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1
Mironov, S. P., N. A. Es'kin, V. G. Golubev, et al. "Ultrasound Diagnosis of Tendon and Nerve Pathology." N.N. Priorov Journal of Traumatology and Orthopedics 11, no. 3 (2004): 3. http://dx.doi.org/10.17816/vto20041133.
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Ultrasoumd image of tendons and peripheral nerves was described. Sonographic criteria of tendon injury and pathology: dislocation, degenerative changes, ruptures including intratendinous, i.e. longitudinal, partial, total as well as inflammation, tumors and postoperative complications was given. Sonographic peculiarities of diagnosis on injury, compression and constriction of nerve in tunnel osteofibrosis of extremity was presented. Presence of that pathology was confirmed by clinical and electophysiological examination and verified intraoperatively. Ultrasonography may be used for diagnosis of congenital abnormalies, nerve injury and neurogenic tumors. Authors emphasize the importance of participation of experienced examiner in interpretation of ultrasonograms.
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Tijana, Durmic, Djelic Marina, Antic Milena, Gavrilovic Tamara, and Zdravkovic Marija. "O-24 Periodical screening for cardiovascular abnormalies in elite athletes: utility of preparticipation examination." British Journal of Sports Medicine 50, Suppl 1 (2016): A13—A14. http://dx.doi.org/10.1136/bjsports-2016-097120.24.
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Garcia, Joe G. N., Harold L. James, Steve Zinkgraf, and Marc B. Perlman. "Lower Respiratory Tract Abnormalies in Rheumatoid Interstitial Lung Disease: Potential Role of Neutrophils in Lung Injury." American Review of Respiratory Disease 136, no. 4 (1987): 811–17. http://dx.doi.org/10.1164/ajrccm/136.4.811.
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Sycheva, Elena G., Niso M. Nazarova, Olga V. Burmenskaya, Vera N. Prilepskaya, and Dmitry Yu Trofimov. "The occurrence of human papillomavirus types in the formation of neoplastic transformation of the epithelium of the cervix in “lesser abnormalies”." Gynecology 22, no. 1 (2020): 19–22. http://dx.doi.org/10.26442/20795696.2020.1.200015.
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Aim. To assess the frequency of human papillomavirus (HPV) occurrence according to the IARC classification in patients with lesser abnormalie of cervical epithelial lesions and analyze their role in the formation of SIL.
 Materials and methods. The study included 129 HPV-positive women aged 1845 years (average age 34 to 11 years) with cytological conclusion NILM, ASCUS or LSIL. Patients are divided into 3 groups depending on the results of the cytological smear: 1 group (NILM/HPV) 66 (51.2%), 2 group (ASCUS/HPV) 28 (21.7%), 3 group (LSIL/HPV) 35 (27.1%). During dynamic observation for 24 months. A comprehensive clinical-laboratory examination was carried out, including HPV-typing, cytological examination, extended colposcopy every 6 months, sighting biopsy of the cervix (according to the indications).
 Results. According to the results of the pathomorphological study, squamous intraepithelial lesions neoplasia (cervical intraepithelial neoplasia CIN+) was verified in 59 (71.9%) of the results of the study: LSIL (CIN I) 53 (64.6%), HSIL (CIN IIIII) 6 (4.6%). The morphological diagnosis of LSIL (CIN I) was established in 1 group (NILM/HPV+) in 20 (55.6%), 2 groups (ASCUS/HPV+) 9 (32%), 3 group (LSIL/HPV) 24 (68.6%); HSIL (CIN IIIII) in group 1 2 (5.6%), in 2 group 3 (10.7%) and in the 3 group 1 (2.9%).
 Conclusions. In patients with lesser abnormalies of cervical lesions in the formation of CIN+ participated HPV group 1 in 79.1%, groups 2A in 5.5%, groups 2B in 15.4% of cases. The HPV high carcinogenic risk (group 1) was involved in the formation of HSIL (CIN IIIII). The neoplastic transformation of the cervical epithelium of the studied patients was caused by the persistence of HPV 16, 58, 39, 18, 51, 68, 56, 82, 35, 52, 53, 35 types.
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Cicinelli, E., P. C. Mitola, B. Indellicati, et al. "Double Vagina Double Cervix and Uterine Septum Mimicking a Simple Septate Uterus: Role of Cervical Abnormalies at Hysteroscopy with Vaginoscopic Approach as Diagnostic Sign." Journal of Minimally Invasive Gynecology 20, no. 6 (2013): S136. http://dx.doi.org/10.1016/j.jmig.2013.08.467.
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Mossafa, Hossein, Hamid Belaouni, Veronique Saada, Christine Fourcade, J. Pierre Hurst, and Driss Chaoui. "High Frequency of the JAK2 V617F Mutation in Patients with Trisomy of Chromosome 9." Blood 112, no. 11 (2008): 1749. http://dx.doi.org/10.1182/blood.v112.11.1749.1749.
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Abstract The previous studies assessing the relationship of cytogenetic abnormalities to JAK2 status have not shown any significant associations, although numbers have generally been too small to make a definitive comment. We therefore assessed the JAK2 V617F mutation status of 337 patients from 39 centers (175 males, 161 females; median age at time of study 71 years old, range 32–98). Patients were classified as follows: 100 with typical MDS, 10 with 5q- syndrome, 17 with AREB-2, 2 with RARS, 13 with RARS-T, 23 with MPD/MDS, 12 with CMML, 142 with typical MPDs, 5 with hypereosinophilic syndrome (HES), 7 with AML with multi-lineage dysplasia from Ph- MPD, 10 with aCML Ph- or MPD/MDS-u and 25 with typical CML Ph+. Bone marrow or blood derived genomic DNA was screened for the JAK2 mutation. The JAK2 V617F mutation was found in 109/337 pts (32%): typical MPD-Ph− (47%) cases, MDS (4.5%), 5q- syndrome (60%), AREB-2 (64%), CMML (42%), MDS/MPD (36%). A clonal cytogenetic abnormality was detected by R-banding in 159/337 cases (47%). The JAK2 mutation was associated with a chromosomal abnormality in 81/159 cases (51%). The most common chromosome abnormality associated with JAK2 mutation was the gain of chromosome 9 (n= 22, Associated with JAK2 mutation: 19/22 cases 86%). The second most common abnormality was partial deletion of 20q (n=30, Associated with JAK2 mutation: 19/30 cases 63%). The partial or complete loss of chromosome 7 (n=16, Associated with JAK2 mutation: 6/11), deletion of 5q- (n=10, Associated with JAK2 mutation: 6/10), gain of chromosome 8 (n=11, Associated with JAK2 mutation: 7/11), partial deletion of 11q (n=8, Associated with JAK2 mutation: 5/8), partial deletion of 12p (n=6 Associated with JAK2 mutation 4/6), partial deletion of 13q (n=5, Associated with JAK2 mutation: 4/5). Patients with trisomy 9 and JAK2 mutation were classified as follows : polycytemia vera (PV) n=4 (100% JAK2 mutated), essential thrombocytemia (ET) n=3 (100% JAK2 mutated), idiopathic myelofibrosis (IMF), n=2 (100% JAK2 mutated), MPD/MDS, n=3 (67% JAK2 mutated), secondary AML post MDS, n=1 (JAK2 mutated), atypical MPD, n=6 (100% JAK2 mutated), MMCL, n=1(JAK2 mutated). The V617 mutation was not found in the case of de novo AML, and 2 typical MDS cases. 9 males, 10 females, the median age: 68 years old, range 40–98 years old, median white cell count (WCC) 11 G/l, range 2.4–50.7 G/l (13/19 pts> 10G/l), median hemoglobin 13.5 g/dl, range 9–20.2 g/dl (5/19 pts> 17g/dl), median platelet count 667G/l range 9–1769 G/l (9/19 pts> 500 G/l). The BCR/ABL transcript (multiplex PCR) was not detected in all of these cases. In this study the gain of chromosome 9 associated with JAK2 V617F mutation was the most frequent chromosome abnormality (100%) observed in typical MPDs and atypical syndrome such as MDS/MPD. In summary, previous studies assessing the relationship of cytogenetic abnormalies to JAK2 status did not show any significant association (ref). The del(20q), del(13q), trisomy 8 and del(5q) are known to be recurring non-specific cytogenetic abnormalities, and some of them are also detectable in patients with JAK2 mutation positive or negative. We describe here a significant association the JAK2 V617F mutation and trisomy of chromosome 9 that was detected in a cohort of patients with gain of chromosome 9. Clearly, in addition to PV, IMF, and ET these associations were found in other disease entities, high frequency in the case of atypical MPDs particularly in the case of aCML. Previously, Campbell et al. reported 10 patients with a trisomy 9, in typical MPDs, all of them were V617F+. A longer follow-up and morphological diagnosis is however necessary to determine the prognostic signification of JAK2 mutation and +9 in the cases of classic myeloproliferative syndromes and atypical syndrome such as MDS/MPD overlap syndrome.
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Dikarev, A. V., V. G. Dikarev, and N. S. Dikareva. "COMPARATIVE ANALYSIS OF THE FREQUENCY OF CYTOGENETIC ABNORMALIES IN THE ROOT APICAL MERISTEM OF SPRING BARLEY (HORDEUM VULGARE L.) CULTIVAE SEEDLINGS, CONTRASTING IN THEIR LEAD TOLERANCE." PROCEEDINGS ON APPLIED BOTANY, GENETICS AND BREEDING 177, no. 1 (2016): 52–68. http://dx.doi.org/10.30901/2227-8834-2016-1-52-68.
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Kusumawati, Enike Dwi, Syam Rahadi, Sugeng Santoso, and Dyah Lestari Yulianti. "Pengaruh Lama Thawing yang Berbeda pada Suhu 25 oC Terhadap Kualitas Semen Beku Sapi Ongole." Jurnal Ilmu dan Teknologi Peternakan Tropis 6, no. 1 (2019): 119. http://dx.doi.org/10.33772/jitro.v6i1.6538.
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ABSTRAK Penelitian ini bertujuan untuk mengetahui pengaruh lama thawing yang berbeda pada suhu 250C untuk mendapatkan kualitas spermatozoa semen beku sapi ongole yang optimal. Penelitian dilakukan di Laboratorium Fakultas Peternakan Universitas Kanjuruhan Malang. Metode Penelitian yang digunakan adalah metode percobaan dengan menggunakan Rancangan Acak Lengkap (RAL) Faktorial. Setiap perlakuan thawing diberikan ulangan sebanyak 10 sampel semen beku sapi ongole. Hasil penelitian menunjukkan bahwa perlakuan dengan lama thawing 7, 15, 30 detik pada suhu 25oC memberikan perbedaan pengaruh yang sangat nyata (p<0.01) pada motilitas, viabilitas dan abnormalitas spermatozoa semen beku sapi ongole. Motilitas tertinggi diperoleh pada perlakuan P3 dengan rata-rata sebesar 40,8%, viabilitas tertinggi diperoleh pada perlakuan P3 dengan rata-rata sebesar 82,39%, sedangkan abnormalitas terendah diperoleh pada perlakuan P3 dengan rata-rata sebesar 11,95%. Berdasarkan penelitian ini maka dapat disimpulkan bahwa thawing pada suhu 25oC dengan lama waktu 30 detik memberikan kualitas spermatozoa yang paling baik sehingga disarankan untuk melakukan thawing pada suhu 25oC dengan lama waktu 30 detik. Kata kunci: abnormalias, mortalitas, ongole, thawing, viabilitas ABSTRACT This study aims to determine the effect of different thawing time at 250C to get the sperm quality of frozen semen ongole bull. Research conducted at the Laboratory of Animal Husbandry Faculty Kanjuruhan University of Malang. The method of study by using Completely Randomized Design (CRD) factorial. Any treatment given repeated thawing of frozen samples of 10 times. The study show that treatment with time thawing 7 (P1), 15 (P2), 30 (P3) seconds at 25oC gives a very significant difference (P<0.01) on motility, viability and abnormalities of ongole Bull sperm. The highest motility and viability were obtained at P3 (40,8%) and (82,39%), while the lowest abnormalities obtained on P3 (11,95%). Based on this research it can be concluded that thawing at 25oC with 30 seconds to give the best quality sperm that is recommended for thawing. Keywords: abnormality, motility, ongole, thawing, viabilit
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Kusumawati, Enike Dwi, Syam Rahadi, Sutantri Nurwathon, and Dyah Lestari Yulianti. "Kualitas Post Thawing Spermatozoa Kambing Peranakan Etawa (PE) pada Suhu 37oC dengan Waktu yang Berbeda." Jurnal Ilmu dan Teknologi Peternakan Tropis 6, no. 2 (2019): 246. http://dx.doi.org/10.33772/jitro.v6i2.7152.
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ABSTRAKPenelitian ini dilakukan di laboratorium Fakultas Peternakan Universitas Kanjuruhan. Materi Penelitian yang digunakan adalah semen kambing PE beku yang didapatkan dari Balai Besar Inseminasi Buatan (BBIB) Singosari Kabupaten Malang. Metode penelitian yang digunakan adalah metode percobaan dengan rancangan acak lengkap (RAL). Perlakuan thawing menggunakan air dengan suhu 37°C selama 7, 15, dan 30 detik dengan 10 kali ulangan. Variabel yang diamati yaitu motilitas, viabilitas, dan abnormalitas spermatozoa. Hasil penelitian menunjukkan bahwa motilitas dan viabilitas perlakuan pencairan waktu 30 detik pada 37°C (P3) memberikan hasil terbaik adalah motilitas tertinggi 35%, viabilitas tertinggi 65,88%, dan abnormalitas terendah dengan pencairan 30 detik pada 37°C (P3) 18,392% . Namun, perlakuan tidak menunjukkan perbedaan yang signifikan (P>0,05) pada motilitas dan viabilitas tetapi memberikan perbedaan yang sangat signifikan pada abnormalitas (P<0,01). Kesimpulan dari penelitian ini adalah bahwa perlakuan lama thawing mempengaruhi motilitas, viabilitas, dan abnormalitas spermatozoa.Kata Kunci: kambing, motilitas, peranakan etawa, spermatozoa, viabilitasABSTRACTThis study was carried out in the laboratory of Animal Husbandry Faculty Kanjuruhan University. The research material used was frozen sperm PE goat obtained from the Center for Artificial Insemination (BBIB) Singosari Malang. The research method used was an experimental method with a completely randomized design (CRD). The thawing treatment uses water with a temperature of 37 °C for 7, 15, and 30 seconds with 10 replications. The variables observed were motility, viability, and abnormalities of sperm.The result showed that time thawing treatment of 30 seconds at 37°C (P3) was the highest average motility 35%, the highest average viability 65,881%, and the lowest average abnormality with thawing 7 seconds at 37°C (P1) 18,392%. However, the treatment didn’t show significant different (P>0,05) on motility and viability but it gave highly significant different on abnormality (P<0,01). The conclusion of this research is that the treatment of time thawing influence motility, viability and increase abnormality.Keywords: abnormality, etawa filial, goat, motility, sperm, viability
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Bernardi, Simona, Paola Tononi, Sergio Marin Vargas, et al. "Genomic Analisys of Notch Mutations in a Case of Alagille Syndrome with Acute Lymphoblastic Leukemia." Blood 124, no. 21 (2014): 5338. http://dx.doi.org/10.1182/blood.v124.21.5338.5338.
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Abstract Alagille syndrome (ALGS), or arteriohepatic dysplasia, is a congenital multisystem disease due to Notch signalling pathway mutations, most commonly affecting JAGGED-1 (ALGS type 1), and more rarely NOTCH-2 (ALGS type 2), leading to hepatic, lung, renal and ocular dysfunction (chronic cholestasis, peripheral pulmonary artery stenosis, dysplastic kidneys pigmentary retinopathy), and skeletal abnormalies (minor vertebral segmentation, characteristic facies, posterior embryotoxon/anterior segment defects). ALGS is an autosomal dominant disease, but it is characterized also by variable penetrance and clinical expression and somatic/germline mosaicism. A 20-year-old man with ALGS was admitted to the University Hospital of Verona because of pancytopenia. Following analyses led to the diagnosis of Philadelphia chromosome/bcr-abl-negative, CD10-positive, B-lineage acute lymphoblastic leukemia (common B-ALL). In order to identify the genetic components involved in this complex phenotype, we sequenced the exome of a bone marrow sample collected from the patient. By genome interpretation with Knome pipeline applied to the reference genome UCSC hg19, we found missense variants both in NOTCH-2 (E38K) and JAGGED-1 (P871R) genes that are mainly involved in the syndrome, although their effect on protein function was predicted not to be deleterious. However, we detected putative damaging mutations in genes such as PAX5 (R38H) and NOTCH-1 (K1821N), which might be strongly related to the observed disease. In fact, PAX5 is a member of PAX protein family of transcription factors implicated into regulation of early development that binds NOTCH-2 and likely altering its functionality. On the other hand, NOTCH-1 is involved in cell growth and proliferation and thus the predicted alteration of function of the corresponding protein may have an important role in neoplastic transformation. Disclosures Martinelli: Novartis: Consultancy, Speakers Bureau; BMS: Consultancy, Speakers Bureau; Pfizer: Consultancy; ARIAD: Consultancy.
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Bernardi, Simona, Paola Tononi, Sergio Marin Vargas, et al. "Genomic Analysis Of Notch Mutations In a Case Of Alagille Syndrome With Acute Lymphoblastic Leukemia." Blood 122, no. 21 (2013): 4992. http://dx.doi.org/10.1182/blood.v122.21.4992.4992.
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Abstract Alagille syndrome (ALGS), or arteriohepatic dysplasia, is a congenital multisystem disease due to Notch signalling pathway mutations, most commonly affecting JAG1 (ALGS type 1), and more rarely NOTCH2 (ALGS type 2), leading to hepatic, lung, renal and ocular dysfunction (chronic cholestasis, peripheral pulmonary artery stenosis, dysplastic kidneys pigmentary retinopathy), and skeletal abnormalies (minor vertebral segmentation, characteristic facies, posterior embryotoxon/anterior segment defects). ALGS is an autosomal dominant disease, but it is characterized also by variable penetrance and clinical expression and somatic/germline mosaicism. A 20-year-old man with ALGS was admitted to the University Hospital of Verona because of pancytopenia. Following analyses led to the diagnosis of Philadelphia chromosome/bcr-abl-negative, CD10-positive, B-lineage acute lymphoblastic leukemia (common B-ALL). In order to identify the genetic components involved in this complex phenotype, we sequenced the exome of a bone marrow sample collected from the patient. By genome interpretation with Knome pipeline applied to the reference genome UCSC hg19, we found missense variants both in NOTCH2 (E38K) and JAG1 (P871R) genes that are mainly involved in the syndrome, although their effect on protein function was predicted not to be deleterious. However, we detected putative damaging mutations in genes such as PAX5 (R38H) and NOTCH1 (K1821N) which might be strongly related to the observed disease. In fact, PAX5 is a member of PAX protein family of transcription factors implicated into regulation of early development, that binds NOTCH2 and likely altering its functionality. On the other hand, NOTCH1 is involved in cell growth and proliferation and thus the predicted alteration of function of the corresponding protein may have an important role in neoplastic transformation. Disclosures: No relevant conflicts of interest to declare.
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Huber, G. "Abnormales Gewicht als normale Antwort auf eine abnormale Umwelt." B&G Bewegungstherapie und Gesundheitssport 20, no. 06 (2004): 223–27. http://dx.doi.org/10.1055/s-2004-832435.
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Benton, Christopher Brent, Maria Florencia Tanaka, Sherry Pierce, et al. "Characterization of Philadelphia-negative myeloproliferative neoplasm patients with chromosome 12 abnormalities." Journal of Clinical Oncology 31, no. 15_suppl (2013): 7112. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.7112.
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7112 Background: Chromosome 12 (Chr 12) abnormalities have been reported as infrequent events in myelofibrosis (MF). Structural abnormalities at 12q13-15 and 12q24 have been reported in primary MF (PMF), and understanding genes at these loci, such as Hmga2 and Lnk may help in the treatment of Philadelphia-negative (Ph-neg) myeloproliferative neoplasms (MPN). We sought to better characterize Ph-neg MPN patients (pts) with Chr 12 aberrations. Methods: We queried a database of pts with any Ph-neg MPN who were referred to MD Anderson Cancer Center from 1985 to 2012. We identified pts with Chr 12 abnormalities and reviewed available clinical information. We compared characteristics and outcomes of pts who had Chr 12 abnormalities with pts who had no Chr 12 abnormality. Results: Of 1,787 pts with Ph-neg MPN, 36 pts (2%) were found to have a Chr 12 abnormality. Of these, 31 (86%) had MF, 1 (3%) had polycythemia vera (PV), 3 (8%) had hypereosinophilic syndrome, and 1 (3%) had unspecified MPN. Fourteen pts (39%) had successive biopsies demonstrating evolving cytogenetic abnormalities. The percentage of pts with MF was significantly higher among patients with Chr 12 abnormalities (86% vs. 54%, p-value < 0.001). A larger fraction of MF pts with Chr 12 abnormalities had post-PV MF (PPMF) (31% vs. 14%, p-value < 0.001). Age, JAK2 status, and incidence and rate of leukemic transformation from MF were not significantly different between the two groups. Of the 31 Chr 12 pts with MF, 12 (39%) had an abnormality at 12q13, 8 (26%) at 12q24, 6 (19%) had trisomy 12, 5 (16%) at 12q15, and 6 (19%) had another Chr 12 abnormality. Four pts (13%) had a structural abnormality at >1 site along the long arm of Chr 12. Survival of Chr 12 MF pts as a whole or subdivided by chromosomal abnormality was not significantly different than MF pts without Chr 12 abnormalities. Conclusions: Our investigation into pts with Ph-neg MPN harboring Chr 12 abnormalities is the largest of its kind, and shows 3% of MF pts possessed some type of Chr 12 abnormality, most frequently at 12q13. We found that Chr 12 Ph-neg MPN pts were more likely to have MF and PPMF. Further investigation into the functional significance of these structural abnormalities is warranted.
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Silva, G. K. V. P. T., W. A. D. Mahaulpatha, and Anslem De Silva. "Amphibian abnormalities and threats in pristine ecosystems in Sri Lanka." Journal of Threatened Taxa 11, no. 15 (2019): 15004–14. http://dx.doi.org/10.11609/jott.5394.11.15.15004-15014.
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Amphibian abnormalities are caused by numerous etiologies prevailing in the environment. Since amphibians are good bio indicators of the environment, amphibian abnormalities are popularly known as a veritable ecological screening tool to assess ecosystem health. The present study was carried out encompassing within and outside the Horton Plains National Park areas, from January to November 2017. Distribution of amphibian morphological abnormalities were assessed in and around the five lentic water bodies through gross visual encounter. Six quadrates of 1m×2m were randomly placed in each sampling site. Frequency and composition of amphibian abnormalities were assessed in a total of 694 amphibians, belonging to four families and 11 species. Thereby, 4.5% and 80.87% abnormality indexes were accounted for respectively within and outside the park, comprehended surficial abnormalities, ectromelia and femoral projection abnormality types. Surficial abnormalities were the most predominant in both localities, generally occurring at the hind limb region of pre-mature stages of Taruga eques. Two lentic water bodies were identified as “abnormality hotspots” within and outside the Horton Plains National park; however, a multiplicity of possible combinations of potential causes of abnormalities were present in the environment. Hence, finding the exact causes of amphibian abnormalities are an extremely difficult exercise in the field.
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Radford, J. A., R. A. Cowan, M. Flanagan, et al. "The significance of residual mediastinal abnormality on the chest radiograph following treatment for Hodgkin's disease." Journal of Clinical Oncology 6, no. 6 (1988): 940–46. http://dx.doi.org/10.1200/jco.1988.6.6.940.
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The chest radiographs (CXRs) of 110 patients with mediastinal Hodgkin's disease (HD) were reviewed to determine the incidence, degree, and significance of mediastinal abnormalities following treatment. Residual mediastinal abnormalities were defined as either minimal or measurable, and occurred in 64% of all patients at the completion of treatment, but were more common in those with bulky mediastinal disease at presentation (40 of 48, 83%). Fifty-one patients with a mediastinal abnormality at the end of treatment had follow-up films available. Partial or complete regression of the abnormality occurred by 1 year in 30 of these patients (59%). Over a median follow-up of 80.5 months, there were more relapses (13 of 70, 19%) in patients with residual abnormalities following treatment than in those where the mediastinum was considered normal (four of 40, 10%). Measurable abnormality was associated with a higher relapse rate (six of 25, 24%) than minimal abnormality (seven of 45, 16%), but none of these differences were statistically significant. the subsequent relapse rate for patients with persisting abnormality at 1 year was 14%, compared with 17% for patients in whom regression had occurred and 14% in whom the mediastinum had always been considered normal. Considering the whole group, the presence of a mediastinal abnormality following treatment did not predict for relapse, but for the 34 patients treated by chemotherapy (CTR) alone, a residual abnormality was associated with a significantly higher relapse rate (P = .029). We conclude that following mediastinal radiotherapy (XRT) administered either alone or combined with CTR, residual mediastinal abnormalities do not indicate the need for further treatment. However, following CTR alone, such abnormalities may signify persisting disease and we recommend that XRT be considered for these patients.
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Haase, Detlef, Ulrich Germing, Julie Schanz, et al. "New and Comprehensive Cytogenetic Prognostication and Categorization in MDS." Blood 108, no. 11 (2006): 248. http://dx.doi.org/10.1182/blood.v108.11.248.248.
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Abstract The International Prognostic Scorig System (IPSS) was established on the basis of a multicentric analysis of 816 pts. with MDS with 327 individuals (40%) showing clonal cytogenetic abnormalities. Analyses of survival and clinical courses were performed for 11 cytogenetic subgroups. Although the IPSS represents a main and meritorious progress in prognostication in MDS it has shortcomings resulting from the limitated number of pts. Thus, little is known about the prognostic impact of rare and combined anomalies and a lot of abnormalities are assigned to the intermediate prognostic group without knowing their actual prognosis. It was our aim to refine the cytogenetic prognostic categorization in MDS. For this purpose we created a multicentric German-Austrian database of 2072 pts. with MDS and successful cytogenetics of whom 1080 individuals (52%) had clonal abnormalities. Of this group 1202 individuals were treated with supportive care only, and had a well-documented follow-up and blast count. For this group we defined 23 cytogenetic prognostic subgroups (at least 5 pts. with the same abnormality) also considering the number of accompanying abnormalities. Every subgroup was categorized in relation to the IPSS-categorization according to blast counts and a comparison of survival times. The following subgroups (all either isolated or with only one additional abnormality except the complex cases) were thus established: 9q- (median survival: not reached (nr), categorization: good); 15q- (nr, good); t(15q) (nr, good); 12p- (108, good); +21 (108, good); 5q- (77.2, good); −X (56.4, good); normal (53.4, good); −Y (39.0, good); t(1q) (34.7, good); t(7q) (34.7, good); t(11q) (32.1, good); −21 (32.0, good); 11q- (26.1, intermediate I); +8 (int I); +19 (19.8, int II); 7q- (19.0, int II); any 3 abnorm. (17.1, int II); complex with 3 abnormalties (17.0, int II); −7 (14.0, int II); complex with more than 3 abnormalities (8.7, poor); t(5q) (4.4, poor). Applying our new categorization the following results were obtained: good risk (n=802 pts., ms: 55.4 mo); int I (n=170, 29.4 mo); int II (n=103, 14.6 mo); poor (n=127, 8.1 mo). The differences between the respective Kaplan-Meier curves were highly significant (p=0.0000). Our findings could be the basis for a new comprehensive cytogenetic scoring system covering most pts. with MDS by a now well-known prognosis.
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Kelman, L. "The Place of Osmophobia and Taste Abnormalities in Migraine Classification: A Tertiary Care Study of 1237 Patients." Cephalalgia 24, no. 11 (2004): 940–46. http://dx.doi.org/10.1111/j.1468-2982.2004.00766.x.
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This study evaluates osmophobia and taste abnormalities in relationship to sensitivity and specificity in the classification of migraine. Consecutive International Headache Society (IHS) classified patients ( n = 1237) were evaluated. Symptoms were graded from 0 to 3. Osmophobia and taste abnormalities were tested for sensitivity and specificity in migraine diagnosis. The patients were 85.4% female and their mean age was 38.1 years. Of 673 patients 24.7% complained of osmophobia, and 24.6% of 505 complained of taste abnormalities. In the absence of nausea and vomiting the combinations of two symptoms gave the following sensitivity and specificity percentages, respectively: photophobia and phonophobia, 10.6 and 84.9; photophobia and osmophobia, 1.1 and 99.0; phonophobia and osmophobia, 1.1 and 98.6; photophobia and taste abnormality, 9.6 and 99.0; phono-phobia and taste abnormality, 9.6 and 98.8; and osmophobia and taste abnormality, 4.2 and 99.4. Osmophobia and taste abnormalities were demonstrated to be very specific in diagnosing migraine IHS 1.1-1.6, but very insensitive.
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Natalia, Diana. "PERANAN TROMBOSIT DALAM PATOGENESIS MALARIA." Majalah Kedokteran Andalas 37, no. 3 (2015): 219. http://dx.doi.org/10.22338/mka.v37.i3.p219-225.2014.
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AbstrakMalaria merupakan penyakit endemik di Indonesia dan mempengaruhi hampir seluruh komponen darah. Anemia dan trombositopenia merupakan komplikasi malaria terkait hematologi yang paling sering, dan mendapat banyak perhatian pada literatur ilmiah karena berhubungan dengan mortalitas. Penurunan jumlah trombosit berkaitan dengan berbagai penyebab diantaranya lisis dimediasi imun, sekuestrasi pada limpa, gangguan pada sumsum tulang dan fagositosis oleh makrofag. Infeksi malaria menyebabkan abnormalitas pada struktur dan fungsi trombosit. Kejadian trombositopenia dapat dijadikan petunjuk penting malaria akut.AbstractMalaria are endemic infection in Indonesia and are commonly associated with hematological abnormalities. Anemia and thrombocytopenia are the most common complication of malaria, and has been reported because its mortality. Thrombocytopenia is caused by immune lysis mechanism, spleen’s sequestration, defect in bone marrow and macrophage phagocytosis. Malaria infection causes the abnormality in the structure and function of platelets. The presence of thrombocytopenia is important as an indicator of acute malaria.
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Panda, Isha, and Sushma Save. "Study of association of mortality with electrolyte abnormalities in children admitted in pediatric intensive care unit." International Journal of Contemporary Pediatrics 5, no. 3 (2018): 1097. http://dx.doi.org/10.18203/2349-3291.ijcp20181550.
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Background: Electrolyte abnormalities are common in critically ill children. In view of importance of electrolyte homeostasis and its significant impact on the final outcome of patient, the present study was undertaken. Objective of this study was to determine the prevalence of electrolyte abnormalities in children admitted in Pediatric Intensive Care Unit at the time of admission and its association with mortality and primary organ system involvement.Methods: The study enrolled all the patients from 29 days to 12 years admitted in PICU of a tertiary care hospital during April 2015 to September 2016 (total 18 months). The children were classified according to presence or absence of electrolyte abnormality. The children were further divided into subgroups based on electrolyte values and mortality and organ system involvement was analyzed in each of the sub groups.Results: The prevalence of electrolyte abnormality in terms of sodium or potassium abnormality in the present study was 44.31% (323 of 729). Hyponatremia (27.43%) was the most common electrolyte abnormality followed by hypokalemia (13.99%). The mortality in children with electrolyte abnormality was found to be 28.8% which was significantly higher than mortality in those without electrolyte abnormality. Maximum children with hyponatremia had central nervous system involvement (48.5%) and those with hypernatremia had gastrointestinal involvement (65.4%). Hypokalemia was most frequently observed with gastrointestinal involvement (54.9%) and hyperkalemia with renal involvement (34.8%).Conclusions: Present study has demonstrated significant association of electrolyte abnormalities at admission in PICU with mortality and primary organ system involvement. Close monitoring and correction of electrolyte abnormalities is essential to reduce morbidity and mortality.
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Patel, K., S. V. Chavda, N. Violaris, and A. L. Pahor. "Incidental paranasal sinus inflammatory changes in a British population." Journal of Laryngology & Otology 110, no. 7 (1996): 649–51. http://dx.doi.org/10.1017/s0022215100134516.
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AbstractA retrospective study was carried out to determine the prevalence of abnormality in the paranasal sinuses in a British population having magnetic resonance imaging (MRI) scans for neurological signs and symptoms. The T2-weighted scans of 130 patients were studied. Abnormalities in the paranasal sinuses show as high signal on the T2-weighted scans and thus are clearly seen. Abnormalities included mucosal thickening, fluid levels, sinus opacification and retention cysts/polyps. Of the patients studied, 49.2 per cent showed one or more abnormality. Mucosal thickening was the most common abnormality noted and the ethmoid sinuses the most commonly affected.
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Maurer, Matthew J., James R. Cerhan, Jerry A. Katzmann, et al. "Monoclonal and polyclonal serum free light chains and clinical outcome in chronic lymphocytic leukemia." Blood 118, no. 10 (2011): 2821–26. http://dx.doi.org/10.1182/blood-2011-04-349134.
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AbstractFree light chains (FLCs) are the most commonly detected paraproteins in chronic lymphocytic leukemia (CLL). We examined the types of FLC abnormalities and prognostic utility of the FLC assay compared with standard prognostic biomarkers in a prospective cohort of 339 patients with newly diagnosed CLL. Three types of FLC abnormalities were identified: monoclonal elevated FLC (elevated κ and/or λ with abnormal FLC ratio), polyclonal elevated FLC (elevated κ and/or λ with normal FLC ratio), and ratio-only FLC abnormality (normal range κ and λ with abnormal FLC ratio). One hundred sixty-five patients (49%) had a FLC abnormality with approximately equal distribution among monoclonal elevation, polyclonal elevation, and ratio-only abnormality. All FLC abnormalities were associated with poor time to first treatment: monoclonal FLC (hazard ratio [HR], 4.99; 95% confidence interval [CI], 2.94-8.48), polyclonal FLC (HR, 2.40; 95% CI, 1.24-4.64), ratio-only FLC (HR, 2.57; 95% CI, 1.40-4.69). Monoclonal FLC and polyclonal FLC were associated with poor overall survival compared with patients with normal FLC. Results remained significant after adjusting for Rai stage. The FLC assay is a simple, widely available clinical test with similar prognostic utility as routinely used prognostic biomarkers for CLL. Among persons with FLC abnormalities, the type of abnormality affects prognostic significance.
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Cotter, David, Robert Kerwin, Safa Al-Sarraji, et al. "Abnormalities of Wnt signalling in schizophrenia – evidence for neurodevelopmental abnormality." NeuroReport 9, no. 7 (1998): 1379–83. http://dx.doi.org/10.1097/00001756-199805110-00024.
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Tennant, Thelma R., Dezheng Huo, Elizabeth M. Davis, Richard A. Larson, and Michelle M. Le Beau. "Genomic Rearrangements Associated with -5/del(5q) and -7/del(7q) in Myeloid Leukemias." Blood 110, no. 11 (2007): 1813. http://dx.doi.org/10.1182/blood.v110.11.1813.1813.
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Abstract An important aspect of leukemia biology is the elucidation of the spectrum of chromosomal abnormalities and molecular mutations that cooperate in the pathways leading to leukemogenesis. To identify those chromosomal abnormalities that are associated with drug resistance and a poor outcome, we analyzed a cohort of 3,438 pts (primary MDS, 1155; AML de novo, 1832; and therapy-related MDS/t-AML, 451) ascertained between 1970–2007 at the University of Chicago. 866 (25%) had either -5/del(5q) (276, 8%), -7/del(7q) (313, 9%), or both (277, 8%). The incidence of loss of 5q, 7q, or both was 19% in primary MDS, 20% in AML de novo, and 61% in t-MDS/t-AML. Of note, 71% of the karyotypic abnormalities in these pts led to loss of chromosomal material. Balanced rearrangements accounted for 10% of the additional abnormalities, and the remaining 19% led to a gain of material. Abnormalities of chr 5 were associated with karyotypic instability. Pts with -5/del(5q) had an average of 7 karyotypic abnormalities, whereas pts with -7/del(7q) had an average of 3 abnormalities. Pts with both -5/del(5q) and -7/del(7q) had an average of 10 abnormalities. Only 13% of pts with an abnormality of chr 5 had -5/del(5q) as their sole karyotypic abnormality, whereas 41% of pts with an abnormality of chr 7 had -7/del(7q) as their sole karyotypic abnormality. In addition to increased complexity of the karyotype, abnormalities of chr 5 were associated with specific recurring abnormalities: -17/loss of 17p, 39%;-3/loss of 3p or 3q, 30%; -18/loss of 18q, 24%; -12/loss of 12p, 24%; +8, 23%; -13/del(13q), 18%; -20/del(20q), 18% (values refer to the percentage of each abnormality among pts with 5q loss). The relative frequency of these abnormalities in pts with -7/del(7q) ranged from 4–8%, and no specific abnormality was observed in more than 10% of cases with loss of 7q. These observations extend previous studies which demonstrated a high incidence of abnormalities of 17p, TP53 mutations, and complex karyotypes in t-MDS/t-AML characterized by abnormalities of chr 5 (Pedersen-Bjergaard J. NEJM152:1491, 2005). Our observations, together with those in the literature, suggest that different molecular pathways are involved in the pathogenesis of primary MDS/AML and t-MDS/t-AML associated with abnormalities of chr 5 or 7. The subgroup of pts with abnormalities of chr 7 without chr 5 abnormalities typically has mutations of the RAS pathway (KRAS1, NRAS, NF1, PTPN11), methylation of the promoter of CDKN2B/p15, and a poor prognosis. In contrast, pts with loss of 5q, with or without abnormalities of chr 7, are characterized by complex karyotypes, TP53 mutations and -3/loss of 3p or 3q, +8, -12/loss of 12p, -13/del(13q), -17/loss of 17p, -18/loss of 18q, and -20/del(20q), and a poor prognosis. Emerging technologies, such as high throughput genomic analysis, may facilitate further delineation of the genetic pathways leading to myeloid diseases. Recurring Abnormalities in Patients with Abnormalities of Chromosomes 5 and/or 7 Subgroup -3/loss of 3p or 3q +8/+8q -12/loss of 12p -13/del(13q) -17/loss of 17p -18/loss of 18q -20/del(20q) -5/del(5q) (276 pts) 62 (22%) 55 (20%) 30 (11%) 40 (14%) 101 (36%) 59 (21%) 35 (13%) -7/del(7q) (313 pts) 16(5%) 25 (8%) 12 (4%) 11 (3.5%) 15 (5%) 13 (4%) 22 (7%) -5/del(5q) & -7/del(7q) (277 pts) 106 (38%) 71 (26%) 103 (37%) 59 (21%) 116 (42%) 72 (26%) 67 (24%) Total (866 pts) 184 (21%) 151 (17%) 145 (17%) 110 (13%) 232 (27%) 144 (17%) 124 (14%)
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Ogilvie, Caroline Mackie, Celia Donaghue, Susan P. Fox, Zoe Docherty, and Kathy Mann. "Rapid Prenatal Diagnosis of Aneuploidy Using Quantitative Fluorescence-PCR (QF-PCR)." Journal of Histochemistry & Cytochemistry 53, no. 3 (2005): 285–88. http://dx.doi.org/10.1369/jhc.4b6409.2005.
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Molecular cytogenetic aneuploidy testing for pregnant women at increased risk of chromosome abnormality leads to rapid reassurance for those with normal results and earlier decisions on pregnancy management in the case of abnormality. We tested 9080 prenatal samples using a one-tube QF-PCR test for trisomies 13, 18, and 21; the abnormality rate was 5.9%. There were no misdiagnoses for non-mosaic trisomy. A sex chromosome multiplex was developed that detects structural sex chromosome abnormalities as well as aneuploidies. The sex chromosome test was targeted at pregnancies (272) with specific abnormalities suggestive of Turner syndrome; 13.2% showed 45,X, confirmed by follow-up analysis.
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Mushonga, Borden, Sylvine Twiyizeyimna, Gervais Habarugira, et al. "Study of Incidence of Gross Urogenital Lesions and Abnormalities on Does Slaughtered at Nyagatare Slaughterhouse, Eastern Province, Rwanda." Journal of Veterinary Medicine 2017 (December 3, 2017): 1–7. http://dx.doi.org/10.1155/2017/7564019.
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Reproductive and urinary tract abnormalities are a cause of infertility, reproductive inefficiency, and economic losses in goats. The aim of this study was to investigate the occurrence and nature of reproductive and urinary tract abnormalities encountered in female goats slaughtered at Nyagatare abattoir in the Eastern Province of Rwanda. Reproductive and urinary organs from 369 female goat carcasses were opened by incision and then given a thorough macroscopic examination by visually inspecting and palpating for evidence of abnormalities. The results showed that there was an overall occurrence of 7.8% reproductive organ/tract abnormalities and 10.6% urinary organ/tract abnormalities. Ovarian hypoplasia was the reproductive abnormality with the highest overall occurrence (32.3%) and renal calculi were the urinary organ abnormality with the highest occurrence (38.1%). 95.2% of the reproductive organ/tract abnormalities observed usually result in infertility and 91.3% of the urinary organ/tract abnormalities observed result in economic losses through condemnation of kidneys at slaughter. The high incidence of the observed urinary organ/tract abnormalities represents a potential public health challenge. There was no significant difference in the occurrence of reproductive organ/tract abnormalities according to breed (p>0.05, n=31). There was also no significant difference in the occurrence of urinary organ abnormalities according to breed (p>0.05, n=42).
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Andrefani, Fifi, Oktora Dwi Putranti, and Abdurahman Hoda. "PENGARUH LAMA THAWING TERHADAP KUALITAS SPERMATOZOA SEMEN BEKU SAPI BALI (Bos Sondaicus) di DINAS PERTANIAN PROVINSI MALUKU UTARA (Effect of Thawing Time on the Quality of Frozen Semen Spermatozoa of Bali Cattle (Bos Sondaicus) In Agricultural Department of North Maluku)." JANHUS: Jurnal Ilmu Peternakan Journal of Animal Husbandry Science 3, no. 2 (2019): 11. http://dx.doi.org/10.52434/janhus.v3i2.596.
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Abstrak
 
 Penelitian ini dilaksanakan di Dinas Pertanian Provinsi Maluku Utara (Sofifi). Tujuan dari penelitian ini untuk mengetahui pengaruh lama thawing terhadap kualitas semen beku Sapi Bali. Analisis data yang digunakan dalam penelitian ini menggunakan Anlisis Of Variance (ANOVA) satu arah dengan empat macam perlakuan yaitu 15, 30, 45 dan 50 detik menggunakan air ledeng (PDAM) temperature 25‐30oC dan dilakukan 4 kali ulangan. Perlakuan pada penelitian ini yaitu P1: thawing 15 detik, P2: thawing 30 detik, P3: thawing 45 detik, dan P4: thawing 50 detik. Parameter yang diamati pada penelitian ini adalah Motilitas, Viatabilitas, dan Abnormalitas. Hasil menunjukkan nilai terbaik Motilitas pada 15 detik sebesar 86,25%. Viatabilitas sebesar 83,75%. Sedangkan pada Abnormalitas thawing 15 detik memiliki nilai yang lebih rendah sebesar 15,00%. Berdasarkan hasil penelitian dapat disimpulkan bahwa lama thawing 15 detik dan 30 detik mempunyai kualitas sperma yang lebih baik daripada lama thawing 45 dan 50 detik.
 
 Kata Kunci : Thawing, Motilitas, Viatabilitas, dan Abnormalitas.
 
 Abstract
 
 This research was carried out in the agricultural department of North Maluku Province (Sofifi). The purpose of this study was to determine the effect of thawing time on the quality of Bali frozen semen. Analysis of the data used in this study used an one-way analysis of variance (ANOVA) with four types of treatments, namely 15 seconds, 30,45, and 50 seconds using tap water (PDAM) temperature of 25-30°C and carried out 4 replications. This research is: P1: 15 seconds thawing, P2: 30 seconds thawing, P3: 45 seconds thawing, and P4: 50 seconds thawing. The parameters observed in this study were motility, viatability, and abnormalities. The results showed the best value of motility at 15 seconds at 86.25%. Viatability is 83.75%. Whereas the 15 second thawing abnormality has a lower value of 15.00%. Based on the results of the study it can be concluded that the length of thawing 15 seconds and 30 seconds has better sperm quality than the thawing duration of 45 and 50 seconds.
 
 Keywords : Thawing, Motility, Viatability, and Abnormalities.
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Brucknerová, Ingrid, Michal Dubovický, and Eduard Ujházy. "How can the process of postnatal adaptation be changed by the presence of congenital abnormalities of lip and palate." Interdisciplinary Toxicology 10, no. 4 (2017): 168–71. http://dx.doi.org/10.1515/intox-2017-0024.
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Abstract Despite modern approaches in molecular biology and genetics, we are still not able to identify the actual cause in more than 50% of all congenital defects. One-half of the unidentified cases is referred to as “multifactorial”. Detailed prenatal investigation of the fetus can discover the presence of congenital abnormality, which can worsen the process of postnatal adaptation. Retrospective analysis of newborns admitted to the Neonatal Department of Intensive Medicine (NDIM) in 2012-2016 with the aim to analyze how the process of postnatal adaptation can be changed by the presence of congenital abnormalities of lip and palate. During a five-year period, 13 newborns were admitted to NDIM (2 premature; 11 term newborns). Chromosomal abnormality was confirmed in one patient (Down syndrome) and in one patient suspicion of Patau syndrome was found. Twelve newborns had complete cheilognathopalatoschisis. Two premature newborns and two term newborns had perinatal asphyxia. In this group of patients, 33% had respiratory insufficiency without the presence of congenital heart abnormality, 66% had congenital heart abnormality with respiratory insufficiency, and 2 patients had feeding problems. Only one patient had a positive family history. The diagnosis of complete cheilognathopalatoschisis was confirmed prenatally only in 9 patients. We confirmed that clinical consequences of congenital abnormalities of lip and palate depend on the nature, localization and range of abnormalities, as well as on the genetic background and accompanying congenital abnormalities. Prenatal confirmation of the presence of congenital abnormalities has an important influence on the postnatal management of a patient.
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Schreiner, Andrew D., William P. Moran, Jingwen Zhang, et al. "Evaluation of liver test abnormalities in a patient-centered medical home: do liver test patterns matter?" Journal of Investigative Medicine 66, no. 8 (2018): 1118–23. http://dx.doi.org/10.1136/jim-2018-000788.
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Abnormal liver tests are extremely common in clinical practice, present with varying patterns and degrees of elevation, and can signal liver injury from a variety of causes. Responding to these abnormalities requires complex medical decision-making and merits investigation in primary care. This retrospective study investigates the association of patterns of liver test abnormality with follow-up in primary care. Using administrative data, this study includes patients with abnormal liver tests seen between 2007 and 2016 in a patient-centered medical home. Liver tests examined include serum bilirubin, aspartate aminotransferase, alanine aminotransferase, and alkaline phosphatase. Patients entered the cohort on the first liver test elevation. The outcome examined was completion of repeat testing, and the proportions of patients without follow-up were compared by patterns of index abnormality. 9545 patients met the inclusion criteria. Of these, 6155 (64.5%) possessed one liver test abnormality and 3390 (35.5%) possessed multiple abnormalities on index testing. Overall 1119 (11.7%) patients did not have repeat testing performed during the study period. A greater proportion of patients with lone abnormalities lacked repeat testing compared with those patients with multiple abnormalities. Differences in repeat testing appeared when comparing clinical patterns of abnormality, with higher proportions of follow-up in patients with testing suggestive of cholestasis. Over 11% of patients with abnormal liver tests did not undergo repeat testing during the study period. Repeat testing occurred more often in patients with multiple abnormalities and in clinical patterns suggestive of cholestasis. This study highlights a potential opportunity to improve quality of care.
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Cioc, Adina M., John E. Wagner, Margaret L. MacMillan, and Betsy Hirsch. "Myelodysplastic Syndrome in Fanconi Anemia: Morphologic and Cytogenetic Findings Are Strongly Correlated." Blood 110, no. 11 (2007): 2458. http://dx.doi.org/10.1182/blood.v110.11.2458.2458.
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Abstract Predisposition to myelodysplastic syndrome (MDS) and acute leukemia is a hallmark of Fanconi anemia (FA). Morphologic criteria for MDS in FA are not well established. The presence of some degree of bone marrow (BM) dysplasia, especially dyserythropoiesis, as background in these patients can confound the diagnosis. Similarly, the significance of cytogenetic abnormalities in patients with the chromosomal instability syndrome of FA has been debated. To address both the morphologic diagnosis of MDS in FA and the relationship between morphologic and cytogenetic (CG) findings, we reviewed 169 BM biopsies and CG results from 118 FA patients referred to University of Minnesota from 1991-2006. Peripheral blood and BM smears, sections, iron and immunoperoxidase stains were reviewed by a single hematopathologist without knowledge of CG. MDS was diagnosed and classified according to WHO criteria. Dyserythropoiesis alone was considered diagnostic of MDS only if present in an arbitrarily determined level of at least 50% of cells, or if more than 15% ring sideroblasts (RS) were identified. A borderline MDS category was also defined. G-banding, FISH, and/or array based CGH were performed for detection and characterization of clonal chromosomal abnormalities. Twenty-two patients (18.6%) had morphologic evidence of MDS: RCMD and RCMD-RS were predominant, with RAEB-1 and 2, MDS-unclassifiable, RA and RARS accounting for the remainder. Of the 22 patients with MDS, 20 (91%) had clonal abnormalities; 2 patients, one with RA and one with RARS, showed normal cytogenetics. Of the abnormalities observed, 80% involved gain of 1q, gain of 3q, and/or loss of 7q, and most patients had more than one abnormality. Six patients had borderline MDS; all but one of these had clonal abnormalities. Eight patients with AML were identified, all of whom showed complex cytogenetic abnormalities. Eighty-six patients showed insufficient abnormalities for MDS, but most had some degree of dyserythropoiesis. Cytogenetics was normal in 75 of these patients (87.2%) and abnormal in 11 (12.8%). Most of these patients had clones with a single abnormality. In summary, 37.3% of all FA patients showed chromosomal abnormalities. The presence of MDS as diagnosed by WHO criteria is strongly correlated with the presence of a clonal chromosomal abnormality. With respect to morphologic findings, the diagnosis of MDS in FA is highly dependent upon the detection of myeloid dysplasia, megakaryocytic dysplasia and/or increased blasts. Dyserythropoiesis per se, even if present in excess of 50% of cells, does not correlate with a clonal cytogenetic abnormality. The finding that most patients with borderline MDS also had CG abnormalities suggests that the clonal abnormalities in such cases may herald evolution to MDS. Interpretation of the finding of a clonal abnormality in FA patients without morphologic evidence of MDS requires consideration of the particular chromosomal abnormality involved, the size of the clone, and the presence or absence of clonal evolution. The strong correlation between morphologic and CG findings has implications for monitoring patients with FA.
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Borthakur, Gautam, Constantine Tam, Hagop Kantarjian, et al. "Chromosome 17 Abnormalities Are Associated with Worse Overall and Relapse Free Survival in Patients with Acute Myelogenous Leukemia and Poor-Risk Cytogenetics." Blood 112, no. 11 (2008): 1501. http://dx.doi.org/10.1182/blood.v112.11.1501.1501.
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Abstract Purpose: Chromosome 17 abnormalities define a group of patients with acute myelogenous leukemia (AML) (Nahi, H. et al. Leukemia and Lymphoma2008;49:508) with poor outcomes. We analyzed the additional impact of chromosome 17 abnormalities (−17, −17p, −17q, der17) among patients with AML and cytogenetic abnormalities traditionally considered to be of adverse prognosis. Patients and Methods: 1086 patients with AML [excluding inv 16, t (8;21), t (15;17), Diploid/-y abnormality] were included in this analysis. Based on cytogenetic abnormalities patients were grouped into: −5,−7,−5and −7, complex. The following parameters were included in uni and multi-variate analysis: age, performance status, WBC, hemoglobin, platelets, marrow blast percentage, bilirubin, creatinine, albumin, LDH, chromosome 17 abnormality (yes/no). Results: Four hundred and fourteen (45%) patients achieved complete remission (CR) or CR with incomplete platelet recovery (CRp) and 267 (64.5%) patients relapsed. Two hundred seventy (24.9%) patients had abnormalities of chromosome 17. Abnormalities of chromosome 17 were associated with lower CR or CRp rate (p=0.02) and higher possibility of having cytogenetic abnormality of −5 or −7 (p&lt;0.0001). Multivariate analysis showed that patients with abnormalities of chromosome 17 had worse overall survival (OS) compared to patients without (p= 0.003)(Fig.1). Multi-variate analysis within cytogenetic subgroups showed that chromosome 17 abnormalities were associated with worse OS in patients with chromosome 5 abnormality(p=.02) (data not shown) and in those with complex cytogenetics (p=.04)(Fig.2) and not in patients with chromosome 7 (p=.17)or combined 5 and 7 abnormalities (p=.33). Similar analysis restricted to patients achieving CR/CRp after induction therapy showed that impact of chromosome 17 abnormalities on relapse free survival (RFS) mirrored their impact on OS. Conclusion: chromosome 17 abnormalities are associated with worse OS and RFS in patients with AML and adverse cytogenetics and have additional negative impact on the outcomes in certain well-known adverse cytogenetic subgroups. Figure 1: Kaplan-Meier estimates of overall survival by status of chromosome 17 Figure 1:. Kaplan-Meier estimates of overall survival by status of chromosome 17 Figure 2: Kaplan-Meier estimates of overall survival by status of chromosome 17 in subgroup of patient, complex Figure 2:. Kaplan-Meier estimates of overall survival by status of chromosome 17 in subgroup of patient, complex
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Hayashi, Y., SC Raimondi, AT Look, et al. "Abnormalities of the long arm of chromosome 6 in childhood acute lymphoblastic leukemia." Blood 76, no. 8 (1990): 1626–30. http://dx.doi.org/10.1182/blood.v76.8.1626.1626.
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Abstract To determine the biologic significance of the structural rearrangements of the long arm of chromosome 6(6q) in acute lymphoblastic leukemia (ALL) at diagnosis, we studied 412 consecutive children whose leukemic cell chromosomes had been completely banded and identified 45 (11%) children with this abnormality. The 45 cases were divided into del(6q) only (n = 11), del(6q) and numerical abnormalities (n = 4), del(6q) and structural abnormalities (n = 23), and 6q translocations (n = 7). The breakpoints of del(6q) were subgrouped: del(6)(q15q21) in 11 cases, del(6) (q13q21) in six, del(6)(q21q23) in four, del(6)(q15) in four, del(6)(q15q23) in three, and other deletions in 10 cases. Notably, all these deletions encompassed the 6q21 band, suggesting that this might be the locus of a recessive tumor suppressor gene, the absence of which contributes to malignant transformation or proliferation. Among the seven children with 6q translocations, a previously unidentified nonrandom translocation, t(6;12)(q21;p13) was noted in two cases with an early pre-B immunophenotype. Clinical features and event-free survival were similar among children with or without 6q abnormalities. Overall, children with 6q abnormalities were less likely than those without the abnormality to have a pre-B immunophenotype (P = .03). T- cell immunophenotypes were equally represented in cases with or without 6q abnormalities. However, all four children with del(6q) and a 12p abnormality had early pre-B ALL and all three children with del(6q) and a 9p abnormality had a T-cell immunophenotype. The lack of specificity for a particular immunophenotype may imply that the gene or genes affected by 6q abnormalities are broadly active in the multistep process of lymphoid leukemogenesis. The relatively high frequency of microscopically visible del(6q) indicates the need for molecular studies to identify cases with submicroscopic deletions.
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Hayashi, Y., SC Raimondi, AT Look, et al. "Abnormalities of the long arm of chromosome 6 in childhood acute lymphoblastic leukemia." Blood 76, no. 8 (1990): 1626–30. http://dx.doi.org/10.1182/blood.v76.8.1626.bloodjournal7681626.
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To determine the biologic significance of the structural rearrangements of the long arm of chromosome 6(6q) in acute lymphoblastic leukemia (ALL) at diagnosis, we studied 412 consecutive children whose leukemic cell chromosomes had been completely banded and identified 45 (11%) children with this abnormality. The 45 cases were divided into del(6q) only (n = 11), del(6q) and numerical abnormalities (n = 4), del(6q) and structural abnormalities (n = 23), and 6q translocations (n = 7). The breakpoints of del(6q) were subgrouped: del(6)(q15q21) in 11 cases, del(6) (q13q21) in six, del(6)(q21q23) in four, del(6)(q15) in four, del(6)(q15q23) in three, and other deletions in 10 cases. Notably, all these deletions encompassed the 6q21 band, suggesting that this might be the locus of a recessive tumor suppressor gene, the absence of which contributes to malignant transformation or proliferation. Among the seven children with 6q translocations, a previously unidentified nonrandom translocation, t(6;12)(q21;p13) was noted in two cases with an early pre-B immunophenotype. Clinical features and event-free survival were similar among children with or without 6q abnormalities. Overall, children with 6q abnormalities were less likely than those without the abnormality to have a pre-B immunophenotype (P = .03). T- cell immunophenotypes were equally represented in cases with or without 6q abnormalities. However, all four children with del(6q) and a 12p abnormality had early pre-B ALL and all three children with del(6q) and a 9p abnormality had a T-cell immunophenotype. The lack of specificity for a particular immunophenotype may imply that the gene or genes affected by 6q abnormalities are broadly active in the multistep process of lymphoid leukemogenesis. The relatively high frequency of microscopically visible del(6q) indicates the need for molecular studies to identify cases with submicroscopic deletions.
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Tethool, Angelina Novita, Abdul Rahman Ollong, and Johan Fredrik Koibur. "Pengaruh Sari Buah Merah (Pandanus conoideus Lam) terhadap Abnormalitas Spermatozoa Ayam Kampung." Jurnal Ilmu Peternakan dan Veteriner Tropis (Journal of Tropical Animal and Veterinary Science) 11, no. 2 (2021): 92. http://dx.doi.org/10.46549/jipvet.v11i2.107.
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Antioxidants are substances that can prevent the occurrence of free radical antioxidation reactions in lipid oxidation. Red fruit (Pandanus conoideus Lam) is one of the plants endemic to Papua which contain high antioxidant. The aim of this research was to determine the abnormality spermatozoa of ayam Kampung which were received red fruit extract treatment. Eight cokcs were divided into 4 treatments, each treatment was repeated 5 times. The treatment consisted of control (P0) without extract, P1 with 0.5 mL extract/kgBW/day, P2 with 1 mL extract/kgBW/day and P3 with 1.5 mL extract/kgBW/day. The results showed that red fruit extract decreased the percentage of abnormality spermatozoa (P<0.05) compare to control (without red fruit extract). Forms of abnormality obtained was abnormalities on the head, namely swelled head, bent head, head detachement, knotted tail and smaller head, middle abnormalities, namely midpiece detachement and bending at midpiece border and abnormalities of the tail, namely bent tail, knotted tail, tail detachement and curled tail.
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Zhu, Yaobin, Yaping Zhang, Nan Ding, et al. "The role of cardiac surgeons in online prenatal counselling for congenital heart disease." Journal of International Medical Research 47, no. 10 (2019): 5270–77. http://dx.doi.org/10.1177/0300060519869079.
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Objective To explore the role of cardiac surgeons in prenatal online counselling for congenital heart disease. Methods From January 2014 to December 2017, the author consulted on 400 cases of foetal cardiovascular abnormalities through the Good Doctor Online and WeChat online platforms. The author made appropriate pregnancy recommendations to patients and families using patient ultrasound reports and medical histories. Followed-up patients who chose to continue their pregnancy received postnatal advice. Results There were 248 simple cardiac abnormalities and 152 complex cardiac abnormalities. Foetal chromosome examination detected 2 cases of trisomy 21 syndrome and 26 normal cases. Two mothers (0.8%) of simple cardiac abnormality foetuses and 103 (67.8%) mothers of complex cardiac abnormality foetuses chose induced abortion. A total of 246 mothers of simple cardiac abnormality foetuses chose to continue pregnancy and had good postnatal prognosis. Twenty-six mothers of complex cardiac abnormality foetuses chose to continue pregnancy; among these, there were 4 intrauterine deaths, 22 births, 4 deaths while awaiting surgery and 18 successful surgeries. Conclusion The Good Doctor Online and WeChat platforms facilitate communication with a wide audience. Cardiac surgeons can reduce the birth incidence and improve prenatal consultations for severe congenital heart disease through these platforms.
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Ono, Manabu, Seiichi Kobayashi, Masakazu Hanagama, et al. "Clinical characteristics of Japanese patients with chronic obstructive pulmonary disease (COPD) with comorbid interstitial lung abnormalities: A cross-sectional study." PLOS ONE 15, no. 11 (2020): e0239764. http://dx.doi.org/10.1371/journal.pone.0239764.
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Smoking-related interstitial lung abnormalities are different from specific forms of fibrosing lung disease which might be associated with poor prognoses. Chronic obstructive pulmonary disease with comorbid interstitial lung abnormalities and that with pulmonary fibrosis are considered different diseases; however, they could share a common spectrum. We aimed to evaluate the clinical characteristics of Japanese patients with chronic obstructive pulmonary disease and comorbid interstitial lung abnormalities. In this prospective observational study, we analyzed data from the Ishinomaki COPD Network Registry. We evaluated the clinical characteristics of patients with chronic obstructive pulmonary disease with and without comorbid interstitial lung abnormalities by comparing the annualized rate of chronic obstructive pulmonary disease exacerbations per patient during the observational period. Among 463 patients with chronic obstructive pulmonary disease, 30 (6.5%) developed new interstitial lung abnormalities during the observational period. After 1-to-3 propensity score matching, we found that the annualized rate of chronic obstructive pulmonary disease exacerbations per patient during the observational period was 0.06 and 0.23 per year in the interstitial lung abnormality and control groups, respectively (P = 0.043). Our findings indicate slow progression of interstitial lung abnormality lesions in patients with pre-existing chronic obstructive pulmonary disease. Further, interstitial lung abnormality development did not significantly influence on chronic obstructive pulmonary disease exacerbation. We speculate that post-chronic obstructive pulmonary disease interstitial lung abnormalities might involve smoking-related interstitial fibrosis, which is different from specific forms of fibrosing lung disease associated with poor prognoses.
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Oscier, David G., Andrew Thompsett, Delin Zhu, and Freda K. Stevenson. "Differential Rates of Somatic Hypermutation in VH Genes Among Subsets of Chronic Lymphocytic Leukemia Defined by Chromosomal Abnormalities." Blood 89, no. 11 (1997): 4153–60. http://dx.doi.org/10.1182/blood.v89.11.4153.
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Abstract Chronic lymphocytic leukemia (CLL) is a B-cell tumor involving small lymphocytes that generally express the CD5 antigen and low levels of surface Ig. Within this definition, there is heterogeneity among cases in cell morphology, karyotypic abnormalities, and clinical course. Trisomy 12, the most frequent karyotypic abnormality, is commonly found in a subset of CLL with atypical morphology. It has also been associated with advanced disease, and possibly with a less favorable prognosis. A further subset of cases with abnormalities involving chromosome 13q14 have typical lymphocyte morphology. Occasionally, the two abnormalities are found together. To assess the clonal history of the cell of origin in disease subsets defined by these two chromosomal abnormalities, we investigated the usage of VH genes and the pattern of somatic mutation in 10 cases of trisomy 12 with atypical morphology and eight cases of 13q14 abnormality with typical morphology. In addition, four cases with both chromosomal abnormalities were analyzed. Results confirm a common usage of the VH1 family in all subsets. However, the patterns of somatic mutation were distinct, with cases of trisomy 12 showing a minimal level of mutation (mean ± SD, 0.34% ± 0.86%) and cases of 13q14 abnormality showing significant levels (6.5% ± 1.67%). The four cases with both abnormalities showed a mixed pattern. All mutated cases had intraclonal homogeneity, and three of 10 had a pattern indicative of antigen selection. These results suggest that the clonal history of the two subsets of CLL may differ.
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Watson, MS, AJ Carroll, JJ Shuster, et al. "Trisomy 21 in childhood acute lymphoblastic leukemia: a Pediatric Oncology Group study (8602)." Blood 82, no. 10 (1993): 3098–102. http://dx.doi.org/10.1182/blood.v82.10.3098.3098.
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Abstract Of 1,036 children with newly diagnosed non-T, non-B acute lymphoblastic leukemia (ALL) and a demonstrated cytogenetic abnormality treated on the frontline Pediatric Oncology Group (POG) therapeutic trial 8602, there were 33 patients with trisomy 21 as the sole abnormality. Of these 33, 14 had Down syndrome (DS). Although the non-DS (NDS) trisomy 21 cases tended to be older than the DS cases, there were no other significant differences in clinicobiologic features nor in treatment outcomes between the DS and NDS groups, nor between the entire trisomy 21 group and the other chromosome abnormality group. Among NDS patients with +21 and one additional abnormality, +X, +16, -20, and structural abnormalities involving 6q or 12p were common findings. Kaplan-Meier event-free survival (EFS) curves showed a 4-year EFS of 80% (SE, 12%) in NDS trisomy 21 cases, 71% (SE, 22%) in DS cases with trisomy 21 as the sole abnormality, and 69% (SE, 2%) in cases with other chromosome abnormalities. Trisomy 21 as a sole acquired abnormality in NDS patients suggests a good prognosis.
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Watson, MS, AJ Carroll, JJ Shuster, et al. "Trisomy 21 in childhood acute lymphoblastic leukemia: a Pediatric Oncology Group study (8602)." Blood 82, no. 10 (1993): 3098–102. http://dx.doi.org/10.1182/blood.v82.10.3098.bloodjournal82103098.
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Of 1,036 children with newly diagnosed non-T, non-B acute lymphoblastic leukemia (ALL) and a demonstrated cytogenetic abnormality treated on the frontline Pediatric Oncology Group (POG) therapeutic trial 8602, there were 33 patients with trisomy 21 as the sole abnormality. Of these 33, 14 had Down syndrome (DS). Although the non-DS (NDS) trisomy 21 cases tended to be older than the DS cases, there were no other significant differences in clinicobiologic features nor in treatment outcomes between the DS and NDS groups, nor between the entire trisomy 21 group and the other chromosome abnormality group. Among NDS patients with +21 and one additional abnormality, +X, +16, -20, and structural abnormalities involving 6q or 12p were common findings. Kaplan-Meier event-free survival (EFS) curves showed a 4-year EFS of 80% (SE, 12%) in NDS trisomy 21 cases, 71% (SE, 22%) in DS cases with trisomy 21 as the sole abnormality, and 69% (SE, 2%) in cases with other chromosome abnormalities. Trisomy 21 as a sole acquired abnormality in NDS patients suggests a good prognosis.
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Gupta, Mukesh Kumar, Raj Kumar Rauniyar, Kaleem Ahmad, Sajid Ansari, and Ashok Raj Pant. "Incidental mucosal abnormalities of paranasal sinus in patients referred for MRI brain for suspected intracranial pathology in Eastern Nepal." Asian Journal of Medical Sciences 5, no. 3 (2014): 40–44. http://dx.doi.org/10.3126/ajms.v5i3.9929.
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Background: Mucosal abnormalities of the paranasal sinuses are frequently encountered as incidental findings during MRI evaluation of brain, however, little is known about their magnitude and spectrum in the Nepalese population. The purpose of this study was to analyze the spectrum of incidental mucosal abnormalities of paranasal sinuses in patients who had undergone MRI of brain for suspected intracranial pathologies. Methods: A retrospective cross-sectional study was conducted on 600 consecutive patients referred for brain MRI with suspicion of intracranial pathologies over a period of two years. The mucosal abnormalities of paranasal sinuses were evaluated and the findings were categorized according to the anatomic location and the imaging features of the abnormality seen on MRI. Results: Of total 600 cases, sinus abnormality was seen in 349(58.2%) patients. The spectrum of sinus abnormalities in 349 patients was as follows: mucosal thickening - 313(89.7%), polyp/retention cyst - 139(39.8%), sinus opacification - 114(32.7%), and fluid level - 23(6.6%). Maxillary sinus was involved in 291(83.4%) followed by ethmoid in 257(73.6%), frontal in 169(48.4%) and sphenoid sinus in 115(33.0%) cases. Conclusion: Incidental mucosal abnormalities of paranasal sinus are common findings on MRI performed for evaluation of intracranial pathologies. Mucosal thickening is the commonest abnormality and the maxillary sinus is the most commonly affected sinus. Such a high prevalence of incidental abnormality suggests some unidentified subtle environmental allergens in this part of Nepal and the condition may reflect initial findings of allergic rhinosinusitis before it progresses to the full-fledged symptomatic stage. Asian Journal of Medical Science, Volume-5(3) 2014: 40-44 http://dx.doi.org/10.3126/ajms.v5i3.9929
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Coon, Eric R., Jacob Wilkes, Susan L. Bratton, and Rajendu Srivastava. "Paediatric overdiagnosis modelled by coronary abnormality trends in Kawasaki disease." Archives of Disease in Childhood 103, no. 10 (2018): 937–41. http://dx.doi.org/10.1136/archdischild-2017-313694.
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ObjectiveCompare trends in coronary artery (CA) abnormality diagnoses to trends in adverse cardiac outcomes among American children with Kawasaki disease (KD) to assess the fit of detection of CA abnormalities to an established model of overdiagnosis.DesignMulticenter retrospective cohort.Setting48 US children’s hospitals in the Paediatric Health Information System database.ParticipantsChildren <18 years receiving care for KD between 2000 and 2014.Main outcome measuresThe main outcomes were rates of CA abnormality diagnoses and adverse cardiac outcomes, measured during a child’s incident KD visit and longitudinally at all subsequent visits to the same hospital, through December 2016. CA abnormalities were considered severe if long-term anticoagulation other than aspirin was prescribed. Trends were tested using mixed effects logistic regression, adjusting for patient demographics.ResultsAmong 17 809 children treated for KD, a CA abnormality was diagnosed in 1435 children (8%), including 1117 considered non-severe and 318 severe. The rate of non-severe CA abnormality diagnoses increased from 45 per 1000 patients with KD in 2000 to 81 per 1000 patients with KD in 2014, representing an adjusted 2.3-fold increased odds (95% CI 1.8 to 3.0) of diagnosis. There was no significant change in diagnoses of severe CA abnormalities. Adverse cardiac outcomes were stable over the study period at 19 per 1000 patients with KD (P=0.24 for trend).ConclusionsThe rising rate of detection of non-severe CA abnormalities accompanied by an unchanging rate of adverse cardiac outcomes among American children with KD fits an overdiagnosis pattern.
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Chauffaille, Maria de Lourdes Lopes Ferrari, Vicente Coutinho, Mihoko Yamamoto, and José Kerbauy. "Combined method for simultaneous morphology, immunophenotype and karyotype (MAC) in leukemias." Sao Paulo Medical Journal 115, no. 1 (1997): 1336–42. http://dx.doi.org/10.1590/s1516-31801997000100004.
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In the present study, a combined method (CM) for attaining simultaneous identification of leukemic cell morphology, karyotype and immunophenotype has been evaluated in 21 patients with acute leukemia and 1 with CML in blast crisis were studied for morphology, citochemistry, immunophenotype and karyotype. Karyotype was performed in a bone marrow sample by using conventional techniques. In each case, direct method (DM) and/or three cultures were tried. The CM consisted in separating a small part of the material resulting from any of the cultures or DM, preparing slides through cytospin and immunophenotyping through APAAP method using the same monoclonal antibodies (MoAb) as for diagnosis. In 14 cases, the metaphases proved positive to the MoAb: in 4, the cells with abnormality had their origin defined; in other 4 the karyotype was normal preventing any identification; 6 cases had minimal abnormalities not visible through CM; and in two cases abnormal karyotypes were detected only in the cultures with GM-CSF. This study showed that CM is feasible in cases where evident numerical or structural chromosomal abnormalties are present.
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Kalok, Aida, Ming Yean Ong, Aqilah Hasrori, et al. "Correlation between Oral Glucose Tolerance Test Abnormalities and Adverse Pregnancy Outcomes in Gestational Diabetes: A Cross-Sectional Study." International Journal of Environmental Research and Public Health 17, no. 19 (2020): 6990. http://dx.doi.org/10.3390/ijerph17196990.
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Gestational diabetes mellitus (GDM) is associated with maternal and neonatal complications. We aimed to evaluate the relationship between the abnormalities of the oral glucose tolerance test (OGTT) and adverse pregnancy outcomes. This was a retrospective study of GDM patients over a five-year period in a Malaysian tertiary center. The diagnosis of GDM was based on the National Institute for Health and Care Excellence (NICE) guideline. The data on patients’ demographics, OGTT results, GDM treatment, and pregnancy outcomes were analyzed. A total of 1105 women were included in the final analysis. The percentage of women with isolated abnormal fasting glucose, isolated two-hour abnormality, and both abnormal values were 4.8%, 87.1%, and 8.1%, respectively. Women with both OGTT abnormalities had a higher risk of preeclampsia (odds ratio (OR) 4.73; 95% confidence interval (CI) 1.45–15.41) and neonatal hypoglycemia (OR 8.78; 95% CI 1.93–39.88). Isolated postprandial abnormality was associated with an 80% lesser risk of neonatal hypoglycemia (OR 0.19; 95% CI 0.04–0.87). Both isolated fasting and multiple OGTT abnormalities were associated with insulin therapy. Multiple OGTT abnormalities were a positive predictor of adverse pregnancy outcomes, while isolated postprandial abnormality was associated with a lesser risk of neonatal complication. Further prospective study is essential to validate these findings.
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Rohdin, Cecilia, Karin Hultin Jäderlund, Ingrid Ljungvall, Kerstin Lindblad-Toh, and Jens Häggström. "High prevalence of gait abnormalities in pugs." Veterinary Record 182, no. 6 (2018): 167. http://dx.doi.org/10.1136/vr.104510.
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The objective of this prospective study was to determine the prevalence of gait abnormalities in a cohort of Swedish pugs by using an owner-based questionnaire targeting signs of gait abnormality and video footage showing the dog’s gait. This study also evaluated associated conditions of abnormal gait, including other health disorders prevalent in the breed. Five hundred and fifty (550) pugs registered in the Swedish Kennel Club, of one, five and eight years of age, in 2015 and 2016, were included in the study. Gait abnormalities were reported in 30.7 per cent of the responses. In the majority of cases, the character of the described gait indicated a neurological cause for the gait abnormality. An association was observed between abnormal gait and age, with gait abnormalities being significantly more common in older pugs (P=0.004). An association was also found between abnormal gait and dyspnoea, with dyspnoea being significantly more common in pugs with gait abnormalities (P<0.0001). This study demonstrated that the prevalence of gait abnormalities was high in the Swedish pug breed and increased with age. Future studies on the mechanisms behind these gait abnormalities are warranted.
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Singh, Rajbeer, Ramkesh Singh Parmar, Stuti Verma, P. D. Meena, Vineet Kumar Pathak, and Ajeet Singh Bhadoria. "Cardiac function abnormalities in rheumatoid arthritis and its association with duration of disease: a hospital-based case control study." International Journal Of Community Medicine And Public Health 8, no. 7 (2021): 3478. http://dx.doi.org/10.18203/2394-6040.ijcmph20212605.
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Background: Rheumatoid Arthritis is associated with many extra-articular manifestations including cardiac abnormalities, which increases the risk of morbidity and premature death. Sub-clinical cardiac abnormalities occur many years before their clinically overt manifestations. The objective of the present study is to compare cardiac function abnormality in rheumatoid arthritis patients and healthy controls by echocardiography and to determine its relation with duration of disease.Methods: A hospital based case control study was conducted at a tertiary care centre of northern India including 70 rheumatoid arthritis patients and 70 controls. All subjects were evaluated by Electrocardiography and Trans-thoracic Echocardiography to determine cardiac function abnormalities.Results: ECG abnormalities were detected in 30% of RA cases as compared to only 7.1% of controls. Most common ECG abnormality was LV diastolic dysfunction (p=0.001), followed by pericardial effusion. A weak positive correlation was found between duration of disease and IVRT (r=0.329, p=0.005) indicating worsening of cardiac function with increasing duration of disease.Conclusions: Echocardiographic abnormalities are fairly common among RA patients with LV diastolic dysfunction being most common. Cardiac abnormalities increase with duration and severity of disease.
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Bhattarai, Manoj, and Sita Pokhrel Ghimire. "Hysterosalpingographic Evaluation of Uterus and Fallopian Tubes of Infertile Women." Journal of Nobel Medical College 6, no. 1 (2017): 63–71. http://dx.doi.org/10.3126/jonmc.v6i1.18089.
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Background: Hysterosalpingography (HSG) is a routinely performed radiological investigation for evaluation of uterine cavity morphology and fallopian tube patency in infertile women. This study was undertaken to describe patterns of HSG findings and to assess any significant difference in uterine and fallopian tube findings in women with primary and secondary infertility in eastern part of Nepal.Material and Methods: Hospital based cross sectional descriptive study was conducted by retrospectively analyzing HSG records of 216 infertile women (both primary and secondary infertility) done from April 2014 to August 2016. Radiological findings in uterus and fallopian tubes were recorded and analyzed. Association between two categorical variables was examined by Chi-square test.Results: Majority of infertile women (53.2%) had primary infertility. Abnormal HSG was seen in 44.9% infertile women and higher in secondary infertility (57.4%) than with primary infertility (33.9%) (OR = 2.63, 95% CI = 1.51 – 4.57, P value = 0.001). Tubal abnormality was common than uterine abnormality (36.1% versus 8.8%, P value= 0.001). Tubal abnormalities were higher in women with secondary infertility than with primary infertility (52.5% versus 21.7%), whereas uterine abnormalities were common with primary infertility compared to secondary infertility (12.2% versus 5.0%) (P value= 0.001).Conclusion: Abnormal HSG was more associated with secondary infertility. Infertility was significantly associated with tubal abnormality than with uterine abnormality. Tubal abnormalities are common in women with secondary infertility whereas uterine abnormalities are common in women with primary infertility and are statistically significant.Journal of Nobel Medical CollegeVolume 6, Number 1, Issue 10 (January-June, 2017), Page: 63-71
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Alamdaran, Seyed Ali, Masoud Mahdavi Rashed, Shima Arjmand, and Reza Rahimzadeh Oskooei. "Mesenteric Vessel Abnormalities Detected With Sonography: A Possible Gateway to the Early Diagnosis of Various Gastrointestinal Anomalies." Journal of Diagnostic Medical Sonography 37, no. 1 (2020): 32–39. http://dx.doi.org/10.1177/8756479320961076.
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Background: In pediatric sonography, mesenteric vessel abnormalities can be used as a sign of malrotation or volvulus. This study was aimed at evaluating the diseases associated with mesenteric vessel abnormalities in children, except for rotational anomalies. Methods: From 2017 to 2020, pediatric patients with abdominal complaints were referred for a full abdominal sonogram and were evaluated for mesenteric vascular abnormalities. During this period, 62 children (aged <12 years), with mesenteric vessel abnormalities, were discovered with sonography. They were also examined for associated anomalies and were followed until a final diagnosis was determined. Results: Mesenteric vessel displacement was reported in 37 patients (60%); in 24 cases, the vein was located to the left of superior mesenteric artery (SMA), and in others (13 cases), in the anterior position. Abnormal pathways in mesenteric vessels were reported in 33 patients (53%); 18 cases showing a right side turn and 15 cases showing a left side turn. The whirlpool sign was seen in 16 patients (27%). These three patterns of vessel abnormality were associated with disorders such as diaphragmatic hernia, bowel obstruction, and space occupying lesions (masses). The location of the mesenteric abnormality was in the proximal part of mesenteric vessels in 45 cases (72.5%) and in its distal part in 17 cases (27.5%). Malrotation (eight cases), obstruction, and volvulus were the most common causes of a distal abnormality. Conclusions: Mesenteric vessel abnormalities, noted with sonography, may not be exclusive to the diagnosis of malrotation and midgut volvulus. In this cohort, bowel obstruction, diaphragmatic hernia, and space occupying lesions were the other most common anomalies associated with mesenteric vessel abnormalities. In reviewing one-third of mesenteric vessels, abnormalities were only seen in the distal part of vessels; therefore, a thorough examination is warranted.
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Papenhausen, Peter, James Tepperberg, and Stuart Schwartz. "Utilization of a SNP Microarray for the Detection and Delineation of Chromosomal Changes In CLL Patients: the Efficacy of Implementing New Technology to An Old Question." Blood 116, no. 21 (2010): 2763. http://dx.doi.org/10.1182/blood.v116.21.2763.2763.
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Abstract Abstract 2763 Chronic Lymphocytic leukemia is the most common form of adult-onset leukemia in the Western world and the preferred method of analysis is to utilize fluorescence in-situ hybridization (FISH) utilizing probes to detect deletions of 11q, 13q and 17p, as well as trisomy 12 and Cyclin D1/IGH fusion. This FISH panel analysis revealed a positive clone in approximately 64% of the samples sent in for analysis. The promise of microarray analysis of CLL clones is the 100x resolution power compared to routine chromosome analysis (only partially effective in detecting clones in 3–5 day mitogen cultures) in identifying significant clonal genetic alterations or compared to the limited DNA probe targets utilized in routine FISH analysis. In order to validate microarray analysis and verify the utility for studying CLL, we have examined the DNA from112 patients, including those with either normal or abnormal results in chromosome analysis and/or FISH using the Affymetrix SNP 6.0 microarray. The studies have yielded a number of interesting and important findings including: (1) Of the 20 normal cases; 1 abnormality was detected by the array analysis; (2) Of the cases with abnormalities detected by FISH, 49 of 92 (52.3%) had an additional finding that could be delineated by array. (3) Those with 1 abnormality, seen in less than 20% of nuclei, had a 33% chance of having a second array abnormality; those with an abnormality in more than 20% of the cells had ∼50% chance of having a second array abnormality; (4) If the single abnormality was a 11q−, 17p− or +12, the individual had a higher chance of having a second abnormality (60-80%), than if the abnormality was a 13q− (∼43% chance of having a second abnormality); (5) Twelve cases had 4 or more additional abnormalities and of these 12 cases 5 had a massive number (>10), most of which involved a deletion of 17p detected by FISH, consistent with the poor prognosis associated with P53 deletions; (6) Of the 49 cases that had additional abnormalities, there were a total of 184 abnormalities not detected by FISH. There are about 18 different alterations that have been seen in multiple patients, including deletions of P16, DCC, MYLB and duplication of MYC; (7) The 13q and 11q deletions were very heterogeneous with each deletion having a different proximal and distal breakpoint. Approximately 1/3 of the 13q deletions included Rb1and all included mir15/16; (8) The 17p deletions all included P53 and 11/12 were terminal deletions; (8) The value of a genotyping array was underscored by delineation of five cases (5.4%) with segmental UPD in the abnormal group. [UPD9q, UPD11q, UPD11q, UPD13q and UPD16q]. In three of these there was also a deletion within the chromosome involved in the UPD; (9) The array could detect every abnormality detected by FISH which was present in at least 16.5% of the cells and about half of the abnormalities present in 5–16.5% of the cells; (10) Based on our rate of detection and pattern of ascertainment, we estimate that only 2.1% of CLL clones will be missed because of low level disease, whereas 32% of cases will have additional abnormalities are detected. These studies clearly show the advantages of genotyping array analysis in the study and staging of patients with CLL. Disclosures: No relevant conflicts of interest to declare.
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Hiari, M., and M. A. Hiari. "Incidental paranasal sinus inflammatory changes in a Jordanian population." Eastern Mediterranean Health Journal 4, no. 2 (1998): 308–11. http://dx.doi.org/10.26719/1998.4.2.308.
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A retrospective study was conducted to determine the prevalence of abnormalities in the paranasal sinuses in Jordanian patients who had undergone magnetic resonance imaging [MRI] scans for neurological signs and symptoms. The T2-weighted axial MRI scans of 280 patients were studied. Of these patients, 64.3% showed one or more abnormality. Mucosal thickening was the most common abnormality observed and the ethmoid sinuses the most commonly affected site. Incidental paranasal sinus inflammatory changes are a common finding in MRI scans performed for patients primarily scanned for neurological diseases. MRI is a sensitive method for assessing soft tissue abnormalities including inflammatory changes
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Setiadi, Eri. "PEMBERIAN MINYAK CUMI PADA PERMUKAAN AIR TERHADAP ABNORMALITAS DALAM PEMELIHARAAN LARVA IKAN KERAPU BEBEK (Cromileptes altivelis)." Jurnal Riset Akuakultur 1, no. 1 (2016): 35. http://dx.doi.org/10.15578/jra.1.1.2006.35-47.
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Pembenihan ikan kerapu bebek (Cromileptes altivelis) di Indonesia telah berhasil dengan baik, namun masih dijumpai tingginya abnormalitas. Penelitian abnormalitas pada stadia perkembangan larva dari yolk sac sampai flexion melalui pewarnaan tulang telah dilakukan. Tujuan penelitian adalah untuk mengetahui pengaruh minyak cumi pada permukaan air terhadap abnormalitas, saat abnormal mulai muncul dan bagian tulang yang rentan terhadap abnormal serta sintasannya. Hasil penelitian dari stadia yolk sac sampai flexion menunjukkan bahwa persentase abnormalitas pada pemeliharaan dengan minyak cumi pada permukaan air lebih rendah (P<0,001) dibandingkan dengan tidak menggunakan minyak cumi pada permukaan air. Abnormal mulai terlihat pada stadia preflexion dan flexion. Tipe-tipe abnormal yang dijumpai adalah lordosis, skoliosis, khiposis, fusi, reduksi, percabangan, dan penambahan. Bagian tulang yang rentan terhadap abnormal ditemukan pada vertebrae bagian tengah (15,21%) dan hypurals (8,50%) pada pemeliharaan dengan minyak cumi, sedangkan tanpa menggunakan minyak cumi dijumpai pada dorsal proximal radials (32,50%) dan vertebrae bagian posterior (31,88%). Sintasan sebesar 7,04% (P<0,0001) dijumpai pada pemeliharaan dengan minyak cumi pada permukaan air, sedangkan tanpa minyak cumi pada permukaan air hanya 2,48%. Penggunaan minyak cumi pada permukaan air dapat menurunkan abnormalitas dan meningkatkan sintasan.The mass seedling production of humpback grouper to (Cromileptes altivelis) has largely been successful in Indonesia. However, the high rate of abnormality of seed produced is the main problem. The rate of abnormality from yolk sac to flexion stages was examined. The purpose of the study was to examine the influence of squid oil at the water surface to the abnormality and determine which part of skeleton was vulnerable to deformation using clearing and staining methods. The result had indicated that larvae reared using squid oil at the water surface showed significantly lower (P<0,001) compared to that without squid oil at the water surface in abnormality. The deformation occurred at preflexion stage in both of squid oil or without squid oil at the water surface was detected. The types of deformities encountered during larval rearing period were as follows: scoliosis, lordosis, khyposis, fusion, shortening, branching, and supernumerary elements. Based on nine of bone elements indicated that larvae reared using squid oil at the water surface showed the rate of abnormality in the middle of vertebrae (15,21%) and hypurals (8,50%) while that without squid oil at the water surface showed the rate of abnormality of the dorsal proximal radials (32,50%) and the vertebrae at the posterior region (31,88%). The survival of larvae reared using squid oil at the water surface was higher (7,04%) (P<0,0001) than without squid oil (2,48%). Squid oil addition at the water surface could reduce the abnormality and increase in the survival rate.
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Mukalla, Zakaria, Ria Nova, Legiran Legiran, and Yangtjik Yangtjik. "Using N-terminal pro-B-type natriuretic peptide to diagnose cardiac abnormalities in children with dyspneaen with dyspnea." Paediatrica Indonesiana 57, no. 3 (2017): 124. http://dx.doi.org/10.14238/pi57.3.2017.124-8.
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Background. Dyspnea could be caused by various reason, one of which is the presence of cardiac abnormality. Physical examination sometimes difficult to distinguish breath caused by heart abnormalities, especially small children, so we need another way to find out.Objective. To evaluate whether the examination of NT-proBNP levels can be used as a screening tool to diagnose cardiac abnormality in children presenting with dyspnea.Methods. A Cross sectional study was conducted from August to October 2015 on pediatric patients aged 1 month to 18 years presenting with dyspnea in pediatric ward Mohammad Hoesin Hospital Palembang. All subjects performed blood sampling for NT-proBNP examination and echocardiography to assess the presence of cardiac abnormalities. The diagnostic value analyzed by ROC curve, and determined the optimal cut-off point, sensitivity and specificity. Result. We obtained 58 subjects with median age 9.5 (1-180) months, consisted of 39 subjects with cardiac abnormalities and 19 subjects without cardiac abnormality. There is a significant difference (p = 0.002) of NT-proBNP levels in both groups with a median 1,775 (189-9,000) pg/ml vs 759 (245-9,000) pg/ml. In ROC curve analysis, AUC value was 0.75, and at the optimal cut-off point 1,235 pg/ml, sensitivity was 74.4% and specificity was 73.7%.Conclusion. The level of NT-proBNP can be used to diagnose cardiac abnormalities in children presenting with dyspnea.