To see the other types of publications on this topic, follow the link: Subject with deficiency.
Journal articles on the topic 'Subject with deficiency'
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the top 50 journal articles for your research on the topic 'Subject with deficiency.'
Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.
You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.
Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.
1
Markert, M. Louise, José G. Marques, Bénédicte Neven, et al. "First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases." Blood 117, no. 2 (2011): 688–96. http://dx.doi.org/10.1182/blood-2010-06-292490.
Full textAbstract:
Abstract FOXN1 deficiency is a primary immunodeficiency characterized by athymia, alopecia totalis, and nail dystrophy. Two infants with FOXN1 deficiency were transplanted with cultured postnatal thymus tissue. Subject 1 presented with disseminated Bacillus Calmette-Guérin infection and oligoclonal T cells with no naive markers. Subject 2 had respiratory failure, human herpes virus 6 infection, cytopenias, and no circulating T cells. The subjects were given thymus transplants at 14 and 9 months of life, respectively. Subject 1 received immunosuppression before and for 10 months after transplantation. With follow up of 4.9 and 2.9 years, subjects 1 and 2 are well without infectious complications. The pretransplantation mycobacterial disease in subject 1 and cytopenias in subject 2 resolved. Subject 2 developed autoimmune thyroid disease 1.6 years after transplantation. Both subjects developed functional immunity. Subjects 1 and 2 have 1053/mm3 and 1232/mm3 CD3+ cells, 647/mm3 and 868/mm3 CD4+ T cells, 213/mm3 and 425/mm3 naive CD4+ T cells, and 10 200 and 5700 T-cell receptor rearrangement excision circles per 100 000 CD3+ cells, respectively. They have normal CD4 T-cell receptor β variable repertoires. Both subjects developed antigen-specific proliferative responses and have discon-tinued immunoglobulin replacement. In summary, thymus transplantation led to T-cell reconstitution and function in these FOXN1 deficient infants.
2
Shah, Nirali N., Alexandra F. Freeman, Mark Parta, et al. "Haploidentical Transplantation for DOCK8 Deficiency." Blood 126, no. 23 (2015): 2229. http://dx.doi.org/10.1182/blood.v126.23.2229.2229.
Full textAbstract:
Abstract Background: DOCK8 deficiency- a combined immunodeficiency characterized by recurrent sinopulmonary infections, severe cutaneous DNA viral infections, eczema, food and drug allergies, virally driven malignancies and vasculopathy- results from recessive mutations in Dedicator of Cytokinesis 8 (DOCK8). We have previously reported our experience with allogeneic hematopoietic stem cell transplant (HSCT) for DOCK8 deficiency using matched donors. We now report our recent experience with haploidentical transplantation for this disease. Methods: Six patients with DOCK8 deficiency (median age 19.5 yrs, range 6-25 yrs) received a related donor, haploidentical HSCT. Co-morbitidies, in addition to active infections, included: 1 subject with prior history of Burkitt's lymphoma, cardiomyopathy and renal artery stenosis; 2 subjects with prior histories of stroke and critical basilar artery stenosis; 1 subject with a prior history of Hodgkin lymphoma and bleomycin pulmonary toxicity; and 1 subject with end-stage liver disease from Cryptosporidium who underwent living donor liver transplant from the haploidentical HSCT donor 2 months prior to HSCT. All donors underwent bone marrow harvest for collection of stem cells. Recipients of haploidentical related donor HSCT were conditioned with cyclophosphamide 14.5 mg/kg on days -6 and -5, fludarabine 30 mg/m2/day on days -6 to -2, busulfan 3.2 mg/kg/day on days -4 and -3 (pharmacokinetically targeted to attain an AUC of 4000), and 200 cGy TBI on day -1. Graft-versus host disease (GVHD) prophylaxis consisted of post-transplant cyclophosphamide 50 mg/kg/day on days + 3 and +4 followed by tacrolimus from day +5 to day +180, and mycophenolate mofetil from day +5 to day +35. Results: The median follow-up was 7 mo (range, 1-13 mo). Five patients engrafted with a mean time of 15.8 days (range, 13 to 18 days). One patient who had received a liver transplant 2 months before HSCT had primary graft failure and received a CD34+ selected stem cell boost. All 5 patients who engrafted had > 90% donor chimerism by day 30. All five of these patients have had reversal of the disease phenotype, which correlated with lymphocyte reconstitution. No subject developed steroid-refractory GVHD-2 subjects had no GVHD, 1 had grade 1 skin GVHD only and was treated with topical steroids; 2 developed grade 2 GVHD with skin/GI GVHD and were steroid responsive. Conclusions: There was minimal regimen-related toxicity, and no incidence of steroid-refractory GVHD despite complete donor chimerism. With genetic testing for DOCK8 deficiency becoming more widely available, we anticipate that earlier diagnosis will enable patients to be transplanted earlier in their clinical course, before significant organ damage or the development of viral-driven malignancies, and that the outcome will continue to improve. Despite extensive co-morbidities in this patient population, haploidentical HSCT was a feasible transplant strategy in patients without matched donors and resulted in reconstitution of the deficient lymphocyte compartments leading to complete reversal of the infection susceptibility phenotype in most patients. Disclosures No relevant conflicts of interest to declare.
3
Kashiwagi, Hirokazu, Shigenori Honda, Yoshiaki Tomiyama, et al. "A Novel Polymorphism in Glycoprotein IV (Replacement of Proline-90 by Serine) Predominates in Subjects with Platelet GPIV Deficiency." Thrombosis and Haemostasis 69, no. 05 (1993): 481–84. http://dx.doi.org/10.1055/s-0038-1651637.
Full textAbstract:
SummaryTo clarify the molecular basis of the deficiency of glycoprotein IV (GPIV) of the platelet surface, we analyzed GPIV cDNA synthesized from platelet RNA of five unrelated Japanese subjects whose platelets did not express GPIV.We confirmed the presence of normal-sized GPIV mRNA in platelets from subjects with GPIV deficiency. The sequence of platelet GPIV cDNA from GPIV deficient subject showed three differences when compared with the published sequence; 1) a replacement of a 478CCT codon for proline-90 by TCT for serine, 2) a four-base insertion in the 3′-noncoding region, and 3) a substitution of A for 79C in the 5′-noncoding region. The replacement of Pro90 by Ser predominates in subjects with GPIV deficiency; that is, four out of five platelets with GPIV deficiency contained GPIV mRNA encoding GPIVSer-90, while all platelets from 17 GPIV positive subjects had GPIV mRNA encoding GPIVPro-90. The sequence of platelet GPIV cDNA which did not encode GPIVSer-90 from a subject with GPIV deficiency revealed no abnormality in the coding region. The four-base insertion in the 3′-noncoding region and the substitution of A for 79C in the 5′-noncoding region seems to be unrelated to the expression of GPIV.The substitution of Ser for Pro90 might alter the GPIV structure or impair GPIV biosynthesis, resulting in a lack of detectable GPIV. This hypothesis remains to be tested.
4
WISING, PER J. "Monosymptomatic, Isolated Riboflavin Deficiency (Ariboflavinosis) in a Human Subject." Acta Medica Scandinavica 116, no. 3-4 (2009): 288–93. http://dx.doi.org/10.1111/j.0954-6820.1944.tb11931.x.
Full text
5
Lämmle, Bernhard, Walter A. Wuillemin, Isabelle Huber, et al. "Thromboembolism and Bleeding Tendency in Congenital Factor XII DeficienCy - A Study on 74 Subjects from 14 Swiss Families." Thrombosis and Haemostasis 65, no. 02 (1991): 117–21. http://dx.doi.org/10.1055/s-0038-1647467.
Full textAbstract:
SummaryIn order to assess the clinical implications of hereditary F XII deficietrcy, all available members of Swiss families with F XII deficiency were investigated. Based on the F XII: C values and the family pedigree, the 74 subjects, aged 8-–82 years, were classified as homozygotes/double heterozygotes for F XII deficiency (n = 18), as obligatory (n = 20) or possibly (n = 25) heterozygotes, respectively, and as norrnals (n = 11). None of the 18 subjects with F XII: C <0.01 U/ml and only one possibly heterozygous woman had an abnormal bleeding tendency, confirming the notion that Hageman trait generally does not result in a hemorrhagic diathesis. Two of the 18 subjects with severe F XII deficiency had suffered from venous thromboembolic disease at age <40 years. One heterozygous woman had a leg ulcer probably due to venous thrombosis. Thus, whereas homozygous F XII deficiency may be associated with an increased risk for venous thromboembolic disease, partial F XII deficiency is not, by itself, a strong risk factor for thrombosis.Where as 17 of the 18 subjects with F xII : C <0.01 U/ml had no detectable F XIL Ag, one cross reacting material-positive F XII deficient subject (F XII:Ag = 0.11 U/ml) was identified. The dysfunctional F XII, present in this subject's plasma and tentatively called F XII Bern, is the fourth abnormal F XII molecule identified so far.
6
Wilson, James M., Oleg A. Shchelochkov, Renata C. Gallagher, and Mark L. Batshaw. "Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency." Molecular Genetics and Metabolism 105, no. 2 (2012): 263–65. http://dx.doi.org/10.1016/j.ymgme.2011.10.016.
Full text
7
&NA;. "Journal of Acquired Immune Deficiency Syndrome Volume 9, 1995, Subject Index." Journal of Acquired Immune Deficiency Syndromes & Human Retrovirology 9, no. 5 (1995): 528???532. http://dx.doi.org/10.1097/00042560-199508050-00011.
Full text
8
&NA;. "Journal of Acquired Immune Deficiency Syndrome Volume 9, 1995, Subject Index." Journal of Acquired Immune Deficiency Syndromes & Human Retrovirology 9, no. 5 (1995): 528???532. http://dx.doi.org/10.1097/00042560-199509050-00011.
Full text
9
Pruszkowski, Tomasz. "Deficiency Judgments as a Mortgage Pricing Factor." International Journal of Management and Economics 53, no. 2 (2017): 57–68. http://dx.doi.org/10.1515/ijme-2017-0012.
Full textAbstract:
Abstract The subject of the deficiency judgments has been poorly examined due to a lack of relevant data and the complexity of the issue. Some comprehensive studies have explored whether allowing deficiency judgments decreases the likelihood of strategic defaults in the U. S. mortgage market. Little, however, has been done to determine whether there is any direct correlation between legal standing allowing recourse and loan pricing. Hence, additional work regarding this subject is needed. This study seeks to fill this gap by exploring the impact of allowing deficiency judgments on mortgage pricing policy in various U. S. states. Seven distinctive mortgage types in two groups of states were compared. We conclude that there is no statistically significant difference between recourse and non-recourse states in terms of mortgage pricing, regardless of mortgage type.
10
Cook, JD, and SR Lynch. "The liabilities of iron deficiency." Blood 68, no. 4 (1986): 803–9. http://dx.doi.org/10.1182/blood.v68.4.803.803.
Full textAbstract:
Abstract Iron has been recognized as a potent hematinic since the inception of hematology as a clinical discipline. Even ancient civilizations believed in the beneficial effects of medicinal iron. Nevertheless, the precise functional liabilities of iron lack remain the subject of continuing debate. The consequences of iron deficiency, particularly from a socioeconomic standpoint, are especially important in light of its high global prevalence. A recent review of the literature indicates that approximately 30% of the estimated world population of nearly 4.5 billion are anemic, and at least half of these, 500 to 600 million people, are believed to have iron deficiency anemia.
11
Cook, JD, and SR Lynch. "The liabilities of iron deficiency." Blood 68, no. 4 (1986): 803–9. http://dx.doi.org/10.1182/blood.v68.4.803.bloodjournal684803.
Full textAbstract:
Iron has been recognized as a potent hematinic since the inception of hematology as a clinical discipline. Even ancient civilizations believed in the beneficial effects of medicinal iron. Nevertheless, the precise functional liabilities of iron lack remain the subject of continuing debate. The consequences of iron deficiency, particularly from a socioeconomic standpoint, are especially important in light of its high global prevalence. A recent review of the literature indicates that approximately 30% of the estimated world population of nearly 4.5 billion are anemic, and at least half of these, 500 to 600 million people, are believed to have iron deficiency anemia.
12
Reitsma, PH, SR Poort, CF Allaart, E. Briet, and RM Bertina. "The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects." Blood 78, no. 4 (1991): 890–94. http://dx.doi.org/10.1182/blood.v78.4.890.890.
Full textAbstract:
Abstract Heterozygosity for protein C deficiency is associated with thromboembolic episodes, but clinical symptoms are nonrandomly distributed among protein C deficient families. This finding has led to the provisional definition of clinically dominant and clinically recessive protein C deficiency. We report here the molecular basis of hereditary, clinically dominant protein C deficiency in a panel of 40 Dutch probands from apparently independent families. All but one subject was a heterozygote for a point mutation in the protein C gene. These 39 subjects shared 15 mutations, six of which occurred in more than one proband (between two and nine). The diversity in the 15 mutations, together with the observation that the most frequent Dutch mutation was also found in a Swedish family with clinically recessive protein C deficiency, makes it unlikely that the molecular basis of protein C deficiency will be different between the clinically dominant and recessive forms. The recurrence of one of the mutations is most likely due to a founder effect, which suggests that when an additional hereditary factor is involved in the clinical severity of protein C deficiency this factor may remain linked to the protein C gene over many generations.
13
Reitsma, PH, SR Poort, CF Allaart, E. Briet, and RM Bertina. "The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects." Blood 78, no. 4 (1991): 890–94. http://dx.doi.org/10.1182/blood.v78.4.890.bloodjournal784890.
Full textAbstract:
Heterozygosity for protein C deficiency is associated with thromboembolic episodes, but clinical symptoms are nonrandomly distributed among protein C deficient families. This finding has led to the provisional definition of clinically dominant and clinically recessive protein C deficiency. We report here the molecular basis of hereditary, clinically dominant protein C deficiency in a panel of 40 Dutch probands from apparently independent families. All but one subject was a heterozygote for a point mutation in the protein C gene. These 39 subjects shared 15 mutations, six of which occurred in more than one proband (between two and nine). The diversity in the 15 mutations, together with the observation that the most frequent Dutch mutation was also found in a Swedish family with clinically recessive protein C deficiency, makes it unlikely that the molecular basis of protein C deficiency will be different between the clinically dominant and recessive forms. The recurrence of one of the mutations is most likely due to a founder effect, which suggests that when an additional hereditary factor is involved in the clinical severity of protein C deficiency this factor may remain linked to the protein C gene over many generations.
14
Berrut, Gilles, Christelle Dibon, Olivier Hanon, Gaëtan Gavazzi, Philippe Chassagne, and Laure de Decker. "Care of elderly subject with iron deficiency anaemia: evaluation of geriatric practice." Gériatrie et Psychologie Neuropsychiatrie du Viellissement 12, S2 (2014): 17–24. http://dx.doi.org/10.1684/pnv.2014.0480.
Full text
15
Kashiwagi, H., Y. Tomiyama, S. Kosugi, et al. "Identification of molecular defects in a subject with type I CD36 deficiency." Blood 83, no. 12 (1994): 3545–52. http://dx.doi.org/10.1182/blood.v83.12.3545.3545.
Full textAbstract:
Abstract We performed a molecular analysis of a subject whose platelets and monocytes did not express any cell surface CD36 (designated as a type I CD36 deficiency). Amplification of the 5′ half of platelet and monocyte CD36cDNA (corresponding to nucleotide [nt] 191–1009 of the published CD36 cDNA sequence [Oquendo et al, Cell, 58:95, 1989]) showed that two different-sized CD36 cDNAs existed. One cDNA was of predicted normal size, whereas the other was about 150 bp smaller than that predicted for normal CD36 cDNA. Amplification of the 3′ region of CD36 cDNA (nt 962–1714) in this subject showed only normal-sized CD36 cDNA. Cloning and nt sequence analysis of the cDNAs showed that the smaller sized CD36 cDNA had 161-bp deletion (from nt 331 to 491), and a dinucleotide deletion starting at nt position 539. The same dinucleotide deletion was also detected in the normal sized CD36 cDNA. Both deletions caused a frameshift leading to the appearance of a translation stop codon. RNA blot analysis and quantitative assay using the reverse transcription- polymerase chain reaction (RT-PCR) showed that the CD36 transcripts in both platelets and monocytes were greatly reduced. Comparison of the determined cDNA sequences with the genomic DNA sequence for the human CD36 gene showed that the dinucleotide deletion was located in exon 5, and that the 161-bp deletion corresponded to a loss of exon 4. PCR- based analysis using genomic DNA showed that this subject was homozygous for the dinucleotide deletion in exon 5. Except for the dinucleotide deletion, we could not find any abnormalities around exon 3, 4, and 5 including the splice junctions. These results suggested that the deletions in CD36 mRNA were likely to be responsible for instability of the transcripts, and the dinucleotide deletion in exon 5 might affect the splicing of exon 4.
16
Kashiwagi, H., Y. Tomiyama, S. Kosugi, et al. "Identification of molecular defects in a subject with type I CD36 deficiency." Blood 83, no. 12 (1994): 3545–52. http://dx.doi.org/10.1182/blood.v83.12.3545.bloodjournal83123545.
Full textAbstract:
We performed a molecular analysis of a subject whose platelets and monocytes did not express any cell surface CD36 (designated as a type I CD36 deficiency). Amplification of the 5′ half of platelet and monocyte CD36cDNA (corresponding to nucleotide [nt] 191–1009 of the published CD36 cDNA sequence [Oquendo et al, Cell, 58:95, 1989]) showed that two different-sized CD36 cDNAs existed. One cDNA was of predicted normal size, whereas the other was about 150 bp smaller than that predicted for normal CD36 cDNA. Amplification of the 3′ region of CD36 cDNA (nt 962–1714) in this subject showed only normal-sized CD36 cDNA. Cloning and nt sequence analysis of the cDNAs showed that the smaller sized CD36 cDNA had 161-bp deletion (from nt 331 to 491), and a dinucleotide deletion starting at nt position 539. The same dinucleotide deletion was also detected in the normal sized CD36 cDNA. Both deletions caused a frameshift leading to the appearance of a translation stop codon. RNA blot analysis and quantitative assay using the reverse transcription- polymerase chain reaction (RT-PCR) showed that the CD36 transcripts in both platelets and monocytes were greatly reduced. Comparison of the determined cDNA sequences with the genomic DNA sequence for the human CD36 gene showed that the dinucleotide deletion was located in exon 5, and that the 161-bp deletion corresponded to a loss of exon 4. PCR- based analysis using genomic DNA showed that this subject was homozygous for the dinucleotide deletion in exon 5. Except for the dinucleotide deletion, we could not find any abnormalities around exon 3, 4, and 5 including the splice junctions. These results suggested that the deletions in CD36 mRNA were likely to be responsible for instability of the transcripts, and the dinucleotide deletion in exon 5 might affect the splicing of exon 4.
17
Damazo, Becky, and Jane Moua. "Preventing Iron Deficiency in the Hmong Community." Californian Journal of Health Promotion 1, no. 4 (2003): 15–17. http://dx.doi.org/10.32398/cjhp.v1i4.539.
Full textAbstract:
There is a high prevalence rate of iron deficiency in Hmong children in the USA. An iron deficiency prevention brochure was developed for the Hmong community to educate parents about the subject. The brochure was developed as a result of a Hmong nursing student working closely with a California State University, Chico, faculty member and the county health department.
18
Jung, Moonjung, Jan K. Davidson-Moncada, Chuanfeng Wu, et al. "Specific Impaired CD56+ NK Cell Development in GATA2 Deficiency As Revealed By Ex Vivo NK Expansion." Blood 124, no. 21 (2014): 1419. http://dx.doi.org/10.1182/blood.v124.21.1419.1419.
Full textAbstract:
Abstract Patients with GATA2 deficiency specifically lack CD56bright/CD16- natural killer (NK) cells, while the CD56dim/CD16+ (DP) subset is preserved. CD56bright/CD16- cells have been postulated to be the precursor population for more mature and cytotoxic CD16+NK cells. The mechanism by which an immature population disappears while a putatively more mature population is preserved is not understood. Our group has recently shown that CD16+/CD56dim/- NK cells have a distinct ontogeny, showing little overlap with CD56+/CD16- NK cells, which share clonal derivation with myeloid, T and B lineages (Wu et al, Cell Stem Cell 2014). We hypothesize that the missing CD56bright NK population in GATA2 deficiency is due to a maturation defect in a specific hematopoietic stem/progenitor population, separate from those relatively preserved progenitors producing CD16+ NK cells. We performed ex vivo expansion of NK cells from 4 healthy volunteers and 5 patients with GATA2 mutations and compared phenotypes at baseline and upon expansion. Sorted peripheral blood total NK (TNK) cells (CD3, CD20, CD14 depleted and expressing CD16 and/or CD56) and double negative (DN) cells (CD3-/CD20-/CD14- and CD16-/CD56-) were cultured in the presence of IL2 and irradiated Epstein-Barr virus-transformed lymphoblastoid cells. After 14 days of culture, each cell culture was characterized and re-sorted into TNK cells and DN cells, and cultured for an additional 14 days with restimulation. Subject 1 had GATA2 c.229+1 G>A mutation and presented with pancytopenia, recurrent warts, classic B/NK lymphopenia/monocytopenia and MDS with trisomy 8. Subjects 2 and 5, and subjects 3 and 4 were from the same families, respectively, and all shared the same intron 5 GATA2 c.1017+572C>T mutation. The proband, subject 2 had low grade MDS, recurrent warts and classic B/NK lymphopenia and monocytopenia. However, subjects 3, 4 and 5 had normal peripheral blood counts and bone marrow morphology, with only mild B or NK lymphopenia. TNK cells from subject 1 had profound lack of CD56bright cells at baseline, and showed decreased ex vivo expansion efficiency; 18.5-fold increase at day 14 compared to a 39.4-fold increase for control TNK cells. Even after expansion, the CD56bright population was still absent. When DN cells from subject 1 were placed into culture, they did not give rise to a CD56brightpopulation after 14 or 28 days, while control DN cells did give rise to a clear CD56bright population, also expressing additional NK-defining markers such as NKG2D and NKp46. TNK cells from patients with GATA2 intron 5 mutations had a less striking phenotype and were more variable. Subject 2 had greatly decreased CD56bright NK cells at baseline, in contrast to her asymptomatic father, subject 5, and to subjects 3 and 4 from another family. Ex vivo expansion kinetics for the TNK cells from all 4 subjects were similar to controls. By day 14 in culture, their TNK cells showed preserved generation of CD56bright/+ cells and DP cells. DN cells from subject 2 showed no CD56 expression upon expansion at day 14 and only a minor CD56dim population at day 28. Subjects 3, 4 and 5 showed comparable phenotypes at baseline and upon expansion until day 14 (Figure 1). GATA2 DN cells sorted and expanded twice from DN cells at days 1 and 14, at day 28 had much lower CD56bright NK cells (1.1±0.6% vs. 10.1±3.9%; p<0.05) and higher expression of NKG2D, an activating receptor on NK cells, compared to controls (68.23±9.91% vs. 12.3±4.63%; p=0.0036), suggesting a differentiation block in precursor NK cells. CD107a functional analysis showed impaired NK degranulation capacity upon K562 co-incubation in expanded GATA2 TNK cells and DN cells compared to their controls at day 14 (12.4±0.6 vs. 3.5±0.1 vs. 6.7±0.1 (p<0.001); 8.43±0.38 vs. 4.53±0.09 vs. 1.23±0.03 (p<0.001) fold increase from baseline in control 3, subjects 3 and 4 respectively). Our findings suggest that NK differentiation defects in GATA2 deficiency may be due to a differentiation block from a precursor present in the DN subset which is impaired in giving rise to CD56bright/CD16- cells upon prolonged culture, and also potentially in vivo. The differences between the GATA2c.229+1 G>A and GATA2 c.1017+572C>T (intron 5) samples in both phenotype and expansion characteristics correlate with the clinical severity of patients, and suggest a mutation-specific, dose-dependent role of GATA2 in NK development, as well as other modifying factors. Disclosures Townsley: GSK: Research Funding.
19
Yoshida, Kei, Tatsuhiko Urakami, Remi Kuwabara, and Ichiro Morioka. "Zinc deficiency in Japanese children with idiopathic short stature." Journal of Pediatric Endocrinology and Metabolism 32, no. 10 (2019): 1083–87. http://dx.doi.org/10.1515/jpem-2019-0129.
Full textAbstract:
Abstract Background and methods We investigated the frequency of zinc deficiency in Japanese children with idiopathic short stature, and evaluated whether serum zinc levels correlated with background factors, including age and standard deviation scores (SDSs) for height and serum insulin-like growth factor (IGF)-1 levels. The study subjects consisted of 89 Japanese children. Results The mean serum zinc level was 79 ± 12 (49–108) μg/dL. Of all the children, 48.3% had a low zinc level, in the 60–80 μg/dL range, and 6.7% had zinc deficiency with a zinc level below 60 μg/dL. The majority with a low zinc level and zinc deficiency were asymptomatic other than for short stature. We found no significant correlations of serum zinc with age, or the SDSs for height and serum IGF-1 levels, in either the entire subject population or those with a zinc level below 80 μg/dL. Conclusions We found a low zinc level to be common in Japanese children with idiopathic short stature, whereas actual zinc deficiency was rare. However, other as yet unknown mechanisms not associated with the growth hormone (GH)-IGF-1 axis could be involved in growth retardation in idiopathic short stature.
20
Oppenheim, W. L. "Fibular deficiency and the indications for Syme's amputation." Prosthetics and Orthotics International 15, no. 2 (1991): 131–36. http://dx.doi.org/10.3109/03093649109164648.
Full textAbstract:
Recent literature on the subject is reviewed, and the role of Syme's amputation, reconstructive surgery and prosthetic management is discussed in relation to the severity of the condition. Amputation, which should be performed between 18 months and two years old is specifically recommended for total fibula absence with ankle instability. The operative technique is detailed.
21
Hansson, Johan, Margareta R. Edgren, Suzanne Egyházi, Xiao-Yong Hao, Bengt Mannervik, and Ulrik Ringborg. "Increased Cisplatin Sensitivity of Human Fibroblasts from a Subject with Inherent Glutathione Deficiency." Acta Oncologica 35, no. 6 (1996): 683–90. http://dx.doi.org/10.3109/02841869609083999.
Full text
22
Amiraslanova, M. M., and I. V. Kuznetsova. "21-hydroxylase deficiency and fertility." Medical alphabet, no. 4 (June 12, 2020): 16–26. http://dx.doi.org/10.33667/2078-5631-2020-4-16-26.
Full textAbstract:
21-hydroxylase deficiency is the most common genetically determined adrenal steroidogenesis defect. One of the consequences of the disease developing as a result of this defect, congenital dysfunction of the adrenal cortex (CDAC), is a decrease in fertility in the form of infertility or early pregnancy loss. The problem of reducing the fertility associated with CDAC is still not overcome due to a lack of understanding of the causes of negative pregnancy outcomes or the origin of infertility with preserved ovulatory function of the ovaries. A likely factor in reducing fertility in patients with CDAC is hyperandrogenism. But attempts at his glucocorticoid therapy have not been clinically successful. Thus, the issues of fertility restoration in women with CDAC are still relevant. At the moment, the only method of preventing the usual miscarriage and other complications of pregnancy in patients with CDAC is the use of progestogens, subject to their early, preconception purpose.
23
BARBUR, J. L., M. RODRIGUEZ-CARMONA, J. A. HARLOW, K. MANCUSO, J. NEITZ, and M. NEITZ. "A study of unusual Rayleigh matches in deutan deficiency." Visual Neuroscience 25, no. 3 (2008): 507–16. http://dx.doi.org/10.1017/s0952523808080619.
Full textAbstract:
Rayleigh match data were modeled with the aim of explaining the locations of match midpoints and matching ranges, both in normal trichromats and in subjects with congenital color deficiency. Model parameters included the wavelength of peak sensitivity of cone photopigments, the effective photopigment optical density, and the noise amplitude in the red-green color channel. In order to avoid the suprathreshold, perceptual effects of extreme L:M cone ratios on color vision, selective post-receptoral amplification of cone signals is needed. The associated noise is also amplified and this causes corresponding changes in red-green threshold sensitivity. We propose that the noise amplitude and hence the size of the matching range in normal trichromats relates to the known inter-subject variation in the relative numbers of L and M cones. If this hypothesis can be shown to account for the extremes of the red-green matching range measured in normal trichromats, it is of interest to establish the extent to which it also predicts the unexpected, small matching ranges that are observed in some subjects with red-green color deficiency. A subset of subjects with deutan deficiency that exhibited less common Nagel matches were selected for genetic analysis of their cone pigment genes in order to confirm the type of deficiency, and to predict the corresponding peak wavelength separation (δλmax) of their two, long-wavelength cone pigments. The Rayleigh match model predicted accurately the midpoint and the range for the spectral differences specified by the genes. The prediction also required plausible selection of effective optical density of the cone pigments and noise. The noise needed varied, but the estimates were confined to lie within the limits established from the matching ranges measured in normal trichromats. The model predicts correctly the small matching ranges measured in some deuteranomalous subjects, principally accounted for by a low estimate of noise level in the red-green channel. The model also predicts the “normal” matches made by some subjects that rely on two hybrid genes and therefore exhibit red-green thresholds outside the normal range, typical of mild deuteranomaly.
24
Tumbelaka, Intan Alita Putri, Hardiono Pusponegoro, and Rinawati Rohsiswatmo. "Correlation between serum ferritin levels and attention-deficit/hyperactivity disorder symptom scores in children based on the Abbreviated Conners Teachers Rating Scale." Paediatrica Indonesiana 52, no. 6 (2012): 329. http://dx.doi.org/10.14238/pi52.6.2012.329-35.
Full textAbstract:
factors causing attentiondefidt /hyperactivity disorder (ADHD)in children. Iron contributes to the regulation of dopamineneurotransmitter activity, thus, iron deficiency has been associatedwith ADHD. Several studies have been conducted in othercountries to assess for a correlation between serum ferritin levelsand ADHD symptom scores, but 'With varied results.Objective To examine the relationship between iron deficiency andADHD symptoms, in particular the correlation between serumferritin levels and Abbreviated Conners Teachers Rating Scale(ACTRS) scores in children v.ith ADHD.Methods T his crosssectional study was performed in childrenaged 5 12 years who were newly diagnosed \\lith ADHD. Subjectswere recruited from the Klinik Anakku Kelapa Gading, theNeurology Outpatient Clinic, the Growth and DevelopmentSocial Pediatrics Outpatient Clinic, and the Integrated ChildClinic of Cipto Mangunkusumo Hospital. ADHD diagnoses wereestablished using Diagnostic and Statistical Manual of MentalDisorders, 4th edition (DSMIV). Subjects' parents and teacherswere asked to complete the ACTRS instrument sheet. Venousblood specimens were obtained for peripheral blood and serumferritin level tests.Results Of the 33 subjects recruited, 23 were male. Subjects' agesranged from 5 12 years, \\lith a median age of onset of 4 (range2 10) years. The combined type of ADHD (with inattention andhyperactivityimpulsivity) was more commonly found (20/33)in our subjects. T he mean serum ferritin was 51.31 (SD 27.7)ng/mL. Using 20 ng/mL as the serum ferritin cutoff value, 5/33subjects were considered to be iron deficient. Median ACTRSscore by parents and teachers were 15 and 15, respectively. Higherscores were found in the combined type subject group than in theinattention type subject group. Median serum ferritin levels ofthe two ADHD type groups were similar. Median ACTRS scoresof parents and teachers tended to be higher in the irondeficientgroup (16 and 16, respectively) than in the normal serum irongroup (14.5 and 12.5, respectively). Serum ferritin level showedno correlation (r=0.243; P=0.086) to the parents' ACTRSscore, and no correlation (r=.057; P=0.377) to the teachers'ACTRS score.Conclusion Serum ferritin level showed no correlation to ACTRSscores of parents and teachers, respectively. However, the medianACTRS score was higher in the irondeficiency group than in thenormal iron status group, suggesting that there may be a qualitativerelationship between iron deficiency and ADHD symptoms.[Paediatr lndanes. 2012;52:329-35].
25
Lynch, Megan, Lei Hua, Chris Mix, and John B. Porter. "Mitapivat (AG-348) in Adults with Pyruvate Kinase Deficiency Who Are Regularly Transfused: A Phase 3, Open-Label, Multicenter, Study (ACTIVATE-T) in Progress." Blood 134, Supplement_1 (2019): 3526. http://dx.doi.org/10.1182/blood-2019-123107.
Full textAbstract:
Background: Pyruvate kinase (PK) deficiency is an under-recognized hereditary disease that causes lifelong hemolytic anemia. Mutations in the PKLR gene lead to reduced red cell PK (PK-R) enzyme activity, resulting in defective glycolysis and decreased lifespan of red blood cells. Mitapivat (AG-348) is a novel, first-in-class, oral, small-molecule allosteric activator of PK-R under clinical testing as the first targeted, disease-altering therapy for PK deficiency. In the DRIVE PK study (NCT02476916; a phase 2, open-label, dose-ranging trial in adults with PK deficiency who are not regularly transfused), twice-daily (BID) dosing with mitapivat for &gt;6 months was well tolerated and induced rapid, durable responses (Grace et al. ASH 2017). As of July 14, 2017, 26 (50%) of 52 enrolled subjects had a maximum hemoglobin (Hb) increase of &gt;1 g/dL. Among these 26 subjects, the mean maximum Hb increase was 3.4 g/dL, and 25 (96%) had ≥1 missense PKLR mutation. Based on these findings, mitapivat has entered phase 3 clinical development. The design of the ongoing phase 3 ACTIVATE-T study and its extension study are reported here, with an update on country/site activation and key early learnings on trial logistics in PK deficiency. Methods: ACTIVATE-T is a global, multicenter, open-label study (NCT03559699) to evaluate the efficacy and safety of mitapivat in regularly transfused adults with PK deficiency. Regularly transfused is defined as ≥6 transfusion episodes in the previous year. Subjects who are homozygous for the R479H mutation or have 2 non-missense mutations (without the presence of another missense mutation) in PKLR will be excluded, as will subjects with an average transfusion frequency of more than once every 3 weeks in the previous year. The study comprises an 8-week screening period, during which each subject's complete transfusion history from the prior 52 weeks is documented, followed by a 16-week dose optimization period and a 24-week fixed-dose period (Figure). During the dose optimization period, each subject will undergo individualized mitapivat dose optimization. All subjects will start on a dose of 5 mg BID, which may be increased twice over the course of 16 weeks (from 5 to 20 mg BID and from 20 to 50 mg BID). In the fixed-dose period, each subject will receive mitapivat at their optimized dose for 24 weeks. During the study, subjects will be transfused when their Hb reaches or falls below their individual transfusion trigger calculated from their transfusion history. The primary endpoint is the proportion of subjects who achieve a reduction in transfusion burden, defined as a reduction of ≥33% in the number of red blood cell units transfused during the 24 weeks of the fixed-dose period compared with the historical transfusion burden standardized to 24 weeks. Secondary endpoints include safety. All subjects who complete the study will have the opportunity to enroll in an open-label extension study (NCT03853798) in which all participants will receive mitapivat for up to 192 weeks. The ACTIVATE-T trial is enrolling globally. Disclosures Lynch: Agios: Employment, Equity Ownership. Hua:Agios Pharmaceuticals, Inc.: Employment, Equity Ownership. Mix:Agios: Employment, Equity Ownership. Porter:Bluebird bio: Consultancy, Honoraria; Silence therapeutics: Honoraria; Vifor: Honoraria; La Jolla: Honoraria; Protagonism: Honoraria; Celgene: Consultancy, Honoraria; Agios: Consultancy, Honoraria.
26
Jagannathan, N., C. Thiruvengadam, P. Ramani, P. Premkumar, A. Natesan, and HJ Sherlin. "Salivary Ferritin as a Predictive Marker of Iron Deficiency Anemia in Children." Journal of Clinical Pediatric Dentistry 37, no. 1 (2012): 25–30. http://dx.doi.org/10.17796/jcpd.37.1.ap20543762015370.
Full textAbstract:
Objectives: The objective of the study was to determine the salivary Ferritin levels in children with iron deficiency anemia and its reliability as a predictive marker of the disease and whether these levels could give a new hypothetical insight on the oral epithelial changes seen in patients with iron deficiency anemia. Study Design: The study comprised of 60 children of which the study group comprised of 30 individuals; aged 8-14 years with iron deficiency anemia. Venous blood was collected and hematological examination was performed to determine the hemoglobin and serum ferritin levels to confirm the diagnosis. Saliva was then collected from 30 children with iron deficiency anemia and an equal number of controls. The ferritin levels in saliva were then analyzed using solid phase ELISA. Result: The mean value of salivary ferritin in iron deficient cases was 153.24±46.58 µg/dl and the mean ferritin levels in control subject were 93.87±30.15 µg/dl. Thus the salivary ferritin was found to be significantly higher in iron deficient subjects compared to the controls. Conclusion: The result of our research affirms the fact that the expression of ferritin in saliva of iron deficiency anemia may be due to the enzymatic functions in the saliva and the endocytosis of ferritin which can possibly elevate the salivary ferritin. The diminished level of cytochrome oxidase, together with its relatively high Ferritin content, depicts the association of oral epithelial changes and ferritin occurring in iron deficiency anemia.
27
Pal, BR, T. Marshall, C. James, and NJ Shaw. "Distribution analysis of vitamin D highlights differences in population subgroups: preliminary observations from a pilot study in UK adults." Journal of Endocrinology 179, no. 1 (2003): 119–29. http://dx.doi.org/10.1677/joe.0.1790119.
Full textAbstract:
There is no consensus between Authors on the definition of a replete or deficient vitamin D state. Our aim was to describe a suitable method that could be used to compare vitamin D data in subject groups with small or large numbers. Two hundred and forty indigenous asymptomatic, non-pregnant adult subjects recruited from a single-consultation outpatient attendance with normal biochemistry, represented a sample of our inner city district population. 25-hydroxyvitamin D (25,OHD3) levels were measured to illustrate the effects of season, sex and ethnic group on vitamin D levels and subjected to distribution analysis. This method quantifies as a percentage the distribution of 25,OHD3 concentrations (observed concentration, OC) in pooled group data. The data can be expressed as distribution frequency domains or cumulative frequency ogives (0-100%) or transformed into discrete linear probits, amenable to regression analysis. An estimate of the OC50 (mid-point) and upper (either OC75 or OC95) or lower (either OC25 or OC5) range or at any other frequency between subject groups can be compared. A marked difference in 25,OHD3 levels between Asian and non-Asian asymptomatic adult subjects was seen during both seasons. 25,OHD3 deficiency was defined as at or below the OC25 for the non-Asian group (for both sexes: winter < 13.36 ng/ml, summer <13.38 ng/ml). The majority of Asians of both sexes were 25,OHD3 deficient (winter 94%, summer 82%). The distribution analysis provides an easy technique to compare 25,OHD3 status of different subject groups, allowing the description of populations using either longitudinal or cross-sectional data. This method may offer a way of describing 25,OHD3 deficiency between observers worldwide.
28
THOMPSON, N. W., B. J. MOCKFORD, T. RASHEED, and K. J. HERBERT. "Functional Absence of Flexor Digitorum Superficialis to the Little Finger and Absence of Palmaris Longus – Is There A Link?" Journal of Hand Surgery 27, no. 5 (2002): 433–34. http://dx.doi.org/10.1054/jhsb.2002.0797.
Full textAbstract:
We examined 150 men and 150 women aged 18–40 years to assess flexor digitorum superficialis function to the little finger and the incidence of palmaris longus absence. All patients had flexor digitorum superficialis function to the little finger assessed by standard and modified tests. The presence or absence of palmaris longus was assessed by clinical inspection. Following modified testing, ten subjects (14 hands) displayed absolute superficialis deficiency to the little finger. Forty-nine subjects had unilateral absence of palmaris longus (16%). This tendon was absent bilaterally in 26 subjects (9%). On combining the clinical findings, one subject had unilateral absence of flexor digitorum superficialis function to the little finger with contralateral absence of palmaris longus, and one subject had bilateral absence of flexor digitorium superficialis function with unilateral absence of palmaris longus. We conclude that there is no link between an absent little finger flexor digitorium superficialis and an absent palmaris longus.
29
Febrianti, Zul, Fadil Oenzil, Firman Arbi, and Gustina Lubis. "Soluble transferrin receptor levels in obese and non obese adolescents." Paediatrica Indonesiana 54, no. 2 (2014): 77. http://dx.doi.org/10.14238/pi54.2.2014.77-81.
Full textAbstract:
Background Iron deficiency in children and adolescents maybe dueto an inadequate supply of iron as well as increased iron requirementsfor growth and developmental processes. The incr easing prevalence ofobesity puts children at risk of iron deficiency. Studies on the effectsof obesity on iron deficiency have focused on low grade systemicinflammation as well as examining soluble transferrin receptor levels(sTfR) as an indicator ofiron deficiency.Objective To compare sT fR levels in obese and non-obeseadolescents, assess for correlations between BMI, sTfR and obesity,and determine the risk of iron deficiency in obese adolescents .Method T his cross sectional study was conducted on 20 obeseand 20 non-obese adolescents aged 15-17 in East Aceh District,from September to December 20 11. Subject were chosen throughcluster sampling. The obese subjects had BMI > 95th percentileand the non-obese subjects had BMI s:851h percentile based onthe 2000 National Center for Health Statistics (NCHS). Exclusioncriteria were blood disorders, chronic diseases, and a history ofbleeding. Data were analyzed by Chi-square test and T test witha significance level of P < 0.05, and Pearson's correlation.Results The mean s TfR levels in obese adolescents was higher thanin non-obese adolescents, [2.59 (SD 0.76) vs 2.14 (SD 0.45) μg/mL(P = 0.030)]. Iron deficiency (sTfR> 2.5 μgimL) was more commonin obese than in non-obese adolescents [ (55% vs . 15%, respectively,(P = 0.019) ]. Analysis of the relationship between obesity accordingto BMI andsTfRrevealedan OR of 6.93; 95% CI 1.53 to3 1.38. Ther elationship between the BMI and sTfR levels indicated a positive,moderate strength of association (r = 0.392) .Conclusion The mean sT fR levels in obese adolescents is significantlyhigher than in non-obese individuals. Obese adolescentshave a 6.93 times higher risk of iron deficiency than non-obeseadolescents. Body mass index has a positive and moderate associationwith sTfR.
30
Yabe, Toshio, Sumiyo Kawamura, Masako Sato, et al. "A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination." Blood 100, no. 4 (2002): 1496–98. http://dx.doi.org/10.1182/blood-2001-12-0252.
Full textAbstract:
HLA class I expression depends on the formation of a peptide-loading complex composed of class I heavy chain; β2-microglobulin; the transporter associated with antigen processing (TAP); and tapasin, which links TAP to the heavy chain. Defects in TAP result in a class I deficiency called the type I bare lymphocyte syndrome (BLS). In the present study, we examined a subject with a novel type I BLS who does not exhibit apparent TAP abnormalities but who has a tapasin defect. The subject's TAPASIN gene has a 7.4-kilobase deletion between introns 3 and 7; an Alu repeat–mediated unequal homologous recombination may be the cause of the deletion. No tapasin polypeptide was detected in the subject's cells. The cell surface class I expression level in tapasin-deficient cells was markedly reduced but the reduction was not as profound as in TAP-deficient cells. These results suggest that tapasin deficiency is another cause of type I BLS.
31
Marencakova, Jitka, Tomas Gryc, and Frantisek Zahalka. "THE EFFECT OF SPEED ON GAIT ASYMMETRY IN SUBJECT WITH CONGENITAL TIBIAL DEFICIENCY: A CASE STUDY." Lékař a technika - Clinician and Technology 49, no. 4 (2020): 112–18. http://dx.doi.org/10.14311/ctj.2019.4.02.
Full textAbstract:
In the case study, gait asymmetry changes in different speed of walking with ankle-foot prosthesis were identified for developmental tibial deficiency. Joint kinematic, spatial-temporal, and kinetic gait parameters were collected using 3D motion capture system and 3D treadmill simultaneously. Mean values, SD, and symmetry index were calculated for selected gait parameters and descriptively analysed. Results show gait asymmetry of all of the measured parameters. Kinematic joint angular ranges increase with increasing walking speed. Inverse dynamic results present changes in step length and duration which enhance changes in ground reaction force characteristics. The symmetry index shows gait asymmetry, which increases with faster gait speed. Further research is needed to verify this suspect gait asymmetry increasing tendency and to generalise results to ankle-foot prosthesis population with congenital tibial deficiency or transtibial amputation.
32
Wadhwa, A., A. Singh, A. Mittal, and S. Sharma. "Dietary Intervention to Control Vitamin A Deficiency in Seven- to Twelve-Year-Old Children." Food and Nutrition Bulletin 15, no. 1 (1994): 1–4. http://dx.doi.org/10.1177/156482659401500101.
Full textAbstract:
The efficacy of a dietary intervention programme to control vitamin A deficiency through inexpensive, locally available sources of β-carotene was evaluated in 121 children 7–12 years old. The subjects were randomly divided into experimental and control groups. A three-day food intake was first recorded for each subject using a 24-hour recall method and repeated at the end of the study on a randomly selected subsample. The intervention period lasted one month, during which carrots, papayas, coriander, and mint were offered daily as sources of β-carotene. There was no significant difference in the dietary intakes of the groups before the study. After the intervention period, the serum vitamin A values of the experimental subjects were significantly higher than those of the controls. These results indicate that consumption of small amounts of inexpensive, readily available vegetable sources of β-carotene could help prevent and control vitamin A deficiency. Nutrition education programmes are needed to encourage the use of these foods for home consumption as well as in feeding programmes for schoolchildren.
33
Vybhavi, Jyothi. "Effect of haemoglobin deficiency on cognitive functions in elderly of Bangalore city." Indian Journal of Clinical Anatomy and Physiology 8, no. 2 (2021): 135–39. http://dx.doi.org/10.18231/j.ijcap.2021.031.
Full textAbstract:
Adequate nutrition is fundamental to healthy ageing. Among older adults with anaemia, approximately one-third have evidence of iron, folate, and/or vitamin B deficiency. Lower haemoglobin levels are common in older adults and frequently are measured in clinical practice.1. To assess haemoglobin levels in elderly. 2. To assess cognitive functions in different levels of haemoglobin. This study involved 80 healthy elderly subjects with consideration of inclusion and exclusion criteria. Written informed consent was taken. For each subject, blood sample of 4ml was collected for Haemoglobin assessment. Anthropometric measurements were taken. 24-hour dietary recall, General history questionnaire and Spreen & Stauss Neuropsychology battery of tests were administered.Results were compiled and statistically analyzed. The results show that Elderly with haemoglobin deficiency had statistically significant low scores in all parameters (P &#60; 0.05), especially with executive function & processing speed.It can be concluded that haemoglobin levels were associated with worse global cognitive function and greater decline in psychomotor speed and executive function.
34
Massoud, Ramona, Kianoush Khosravi-Darani, Seyed M. H. Bagheri, Amir M. Mortazavian, and Sara Sohrabvandi. "Vitamin B12: From Deficiency to Biotechnological Solution." Current Nutrition & Food Science 15, no. 4 (2019): 318–26. http://dx.doi.org/10.2174/1573401314666171207145429.
Full textAbstract:
Vitamin B12 production by using propionibacteria and enriching food to produce functional foods is an important subject for researches. Some microorganisms have the potential to produce a wide range of components that are health promoting for human. Among them Propionibacteria has been identified as an effective producer of vitamin B12 and anti-microbial compounds such as propionic acid for decades. In this study at first, the structure, health beneficial effects and properties of vitamin B12 as well as scaled up production of vitamin are mentioned. Then biotechnological strategy is described as a solution to overcome vitamin deficiency and production of functional food. Finally, the specification of propionibacteria and its growth condition as well as bacterium ability to produce some other interesting metabolite in human food as byproduct are discussed.
35
Ramadhani, Pradita Putri, Fillah Fithra Dieny, Dewi Kurniawati, et al. "Household food security and diet quality with chronic energy deficiency among preconception women." Jurnal Gizi Indonesia (The Indonesian Journal of Nutrition) 9, no. 2 (2021): 111–22. http://dx.doi.org/10.14710/jgi.9.2.111-122.
Full textAbstract:
Background: Chronic energy deficiency (CED) that occurs at risk preconception women during pregnancy increased low birth weight (LBW) in infants. Household food security and diet quality are factors that cause CED. Therefore, this study aims to determine the relationship between household food security and diet quality with CED preconception women.Materials and Methods: We used a cross-sectional study design. The subject of 70 preconception women aged 16-35 years registered in the religious affairs office in Sumowono and Pringapus Subdistrict were selected by consecutive sampling method. Weight and height were measured to assess body mass index to determine CED. Household food security was measured using the Household Food Security Scale Module (HFSSM). Food intake data were obtained using the Semi-Quantitative Food Frequency Questionnaire (SQ-FFQ) and DQI-I (Diet Quality Index-International) to measure diet quality. Bivariate analyses were tested using Rank Spearman and Pearson Product Moment.Results: The prevalence of subjects with CED risk was 48.6% and subjects with CED was 15.7%. 38.6% of subjects married at the age of 16-20 years, 75.1% of subjects had low household food security and 80% of subjects had low diet quality. There was no significant relationship between household food security and diet quality with CED, namely (p = 0.537) and (p = 0.711). The components of diet quality, namely variation, adequacy, moderation and balance also did not show a significant relationship with CED, respectively with p-value (p = 0.711), (p = 0.523), (p = 0.412), (p = 0.604 )Conclusions: There was no correlation between household food security and CED, also no correlation between diet quality and CED.
36
Mingozzi, Federico, Janneke J. Meulenberg, Daniel J. Hui, et al. "AAV-1–mediated gene transfer to skeletal muscle in humans results in dose-dependent activation of capsid-specific T cells." Blood 114, no. 10 (2009): 2077–86. http://dx.doi.org/10.1182/blood-2008-07-167510.
Full textAbstract:
Abstract In a clinical trial for adeno-associated virus serotype 1 (AAV-1)–mediated gene transfer to muscle for lipoprotein lipase (LPL) deficiency, 1 subject from the high-dose cohort experienced a transient increase in the muscle enzyme creatine phosphokinase (CPK) 4 weeks after gene transfer. Simultaneously, after an initial downward trend consistent with expression of LPL, plasma triglyceride levels returned to baseline. We characterized B- and T-cell responses to the vector and the transgene product in the subjects enrolled in this study. IFN-γ enzyme-linked immunosorbent spot (ELISpot) and intracellular cytokine staining assays performed on peripheral blood mononuclear cells (PBMCs) from the subject who experienced the CPK elevation showed the activation of capsid-specific CD4+ and CD8+ T cells. Four of 8 subjects had detectable T-cell responses to capsid with dose-dependent kinetics of appearance. Subjects with detectable T-cell responses to capsid also had higher anti–AAV-1 IgG3 antibody titer. No subject developed B- or T-cell responses to the LPL transgene product. These findings suggest that T-cell responses directed to the AAV-1 capsid are dose-dependent. Whether they also limit the duration of expression of the transgene at higher doses is unclear, and will require additional analyses at later time points.
37
Remanlay, Henry. "WORKING WITH AUTISM CHILDREN USING ACUPUNCTURE METHOD." Journal Of Vocational Health Studies 2, no. 2 (2019): 91. http://dx.doi.org/10.20473/jvhs.v2.i2.2018.91-94.
Full textAbstract:
Background: Autism is a disorder with symptoms as a failure to develop normal social interaction with other people, impaired of communication and imaginative ability, followed by repetitive and stereotyped movements. Autism is a global issue that may a possible cause of generation lost, and economic burden to a country. Acupuncture as one of TCM (Traditional Chinese Medicine) technique is an option to improve the life quality of children with Autism. Purpose: To determine the syndrome pattern of children with autism and how acupuncture method works for children with autism, from the perspective of TCM. Method: Four examination methods are incorporated into nine ongoing-treatment subjects fit in autism classification from randomized special need cases. Subject characteristics are derived from allo-anamnesis. Needle acupuncture was the method of choice except one subject prefers laser acupuncture. The objective is to eliminate the phlegm, calm the heart fire, and tonify spleen. Result: after 3-5 sessions of treatment, parents reported speech improvement and reduction of compulsive self-stimulation behavior. Four subjects demonstrated speech improvement, 1 subject showed better focus and concentration, 1 subject indicated a reduction of compulsive self-stimulation behavior, 1 subject improved in obedience and improved comprehension was found in 2 subjects. Conclusion: Observation on nine subjects showed in general that they had phlegm harassing the heart and digestion problem due to spleen deficiency. This phlegm disturbed the heart functions, i.e. mental capacity including speech. Results from the treatments showed elimination of phlegm, cooling down the heart fire, and tonification of spleen improved speech, focus, comprehension, obedience, and reduction of compulsive self-stimulation behavior. Further research and study from the Chinese medicine perspective are needed.
38
Stabler, Sally P., Kishlay Anand, Sam Huang, Bernadette Boden-Albala, Robert H. Allen, and Ralph L. Sacco. "Lack of Anemia Despite Marked Elevation of Serum Methylmalonic Acid and Total Homocysteine in a Multiethnic Cohort." Blood 104, no. 11 (2004): 3207. http://dx.doi.org/10.1182/blood.v104.11.3207.3207.
Full textAbstract:
Abstract It is controversial whether asymptomatic patients with metabolic evidence of cobalamin (Cbl) deficiency need vitamin treatment. Patients with clinical abnormalities due to Cbl deficiency which are proven to correct with treatment invariably have elevated serum methylmalonic acid(MMA) and total homocysteine(tHcy). However, many subjects with elevated MMA are found in screening studies of seniors and they often have no classical clinical abnormalities. We correlated hematologic and neurologic findings with elevated MMA and tHcy in subjects enrolled in the Northern Manhattan Study. Eligible subjects were over 40 yr, had not had a stroke and lived in Manhattan. Approximately 3000 subjects had serum MMA, tHcy and other relevant data available. The samples were collected from 1993 to 2001 thus spanning food folate fortification in the United States. We analyzed those in the top 1% MMA and/or tHcy since these subjects had values seen also in clinical Cbl deficiency. There were 30 subjects with MMA 975 to 179,900 nM (normal<271 nM), 15 female, age 56 to 90 yr, and 19% white, 15% black, 60% other including Hispanic. Only 7of 27 had mild anemia (lowest value, 33.6%) and 6 of 27 had elevated MCV>100fL. The male subject with the highest MCV (109.8 fL), had a hematocrit of 42.7 %, MMA 179,900 nM, tHcy 86.3 uM and Cbl 34 pg/mL with no neurologic findings. Neurologic abnormalities were present in 5 of 30. One subject had high grade spastic paraparesis, 3 had peripheral nervous system deficits, and one had central nervous system defects.Serum tHcy and MMA were not higher in those with neurologic abnormalities. The serum creatinine was < 1.3 mg/dL in the 27 with values thus the elevated MMA was not attributable to renal failure. The serum Cbl was < 200 pg/mL in only 6 of 22 and < 350 pg/mL in 16 of 22. The top 1% of tHcy value ranged from 24.9 to 102 uM (normal<14uM) and only 7 of 31 of these subjects had elevated tHcy without associated elevated MMA. Eight of those in the top 1 percentile for tHcy were also in the top 1 percentile for MMA. We conclude 1.Serum MMA is elevated > 975 nM in 1% of a randomly selected urban multiethnic cohort. 2. Hematologic abnormalities were absent or mild in this group with high MMA. 3. Neurologic abnormalities were found consistent with Cbl deficiency in 17 % of those with high MMA. 4. Both MMA and tHcy are usually elevated. 5. Even though the elevations of MMA and tHcy overlapped those found in clinical studies of Cbl deficiciency these randomly discovered subjects were generally asymptomatic, suggesting that the pathophysiology of megaloblastic anemia and combined systems disease still needs to be investigated.
39
Herbeck, Peter. "On finite subject-to-object raising in Spanish." Borealis – An International Journal of Hispanic Linguistics 9, no. 1 (2020): 87–124. http://dx.doi.org/10.7557/1.9.1.5098.
Full textAbstract:
In this paper, we analyze inflected complements of perceptive, causative and permissive verbs in which the null subject is obligatorily co-referent with the matrix object antecedent. Even though these configurations have mostly received a control or a ‘pseudo-relative’ analysis in Spanish, we argue that the structure is best explained by means of finite ‘subject-to-object’ raising, which has been proposed for languages like Greek, Romanian, Japanese or Korean. The analysis will be argued to capture several intriguing properties of this configuration which have been noted in the literature, such as temporal anaphoricity, direct perception readings, obligatory co-reference, floating quantifiers, emphatic pronouns, and resumptive pronoun strategies. We argue that left-peripheral as well as temporal deficiency of the embedded clause has the consequence that the CP is not a strong phase and cannot legitimate structural nominative case, making A-movement out of the inflected complement possible. Finally, we discuss some related structures that point to the conclusion that ‘finite raising’ exists in the full-fledged pro-drop language Spanish.
40
Merola, Bartolomeo, Matteo Sofia, Salvatore Longobardi, et al. "Impairment of lung volumes and respiratory muscle strength in adult patients with growth hormone deficiency." European Journal of Endocrinology 133, no. 6 (1995): 680–85. http://dx.doi.org/10.1530/eje.0.1330680.
Full textAbstract:
Merola B, Sofia M, Longobardi S, Fazio S, Micco A, Esposito V, Colao A, Biondi B, Lombardi G. Impairment of lung volumes and respiratory muscle strength in adult patients with growth hormone deficiency. Eur J Endocrinol 1995;133:680–5. ISSN 0804–4643 Little is known of the respiratory function in patients with growth hormone (GH) deficiency. The aim of the present study was to evaluate lung volumes and respiratory muscle strength in patients diagnosed as GH deficient in childhood. Ten patients diagnosed as GH deficient in childhood and ten healthy subjects entered the study. For each subject the evaluation of respiratory function followed the same standard approach, consisting of respiratory muscle strength assessment, recording of flowvolume curves, measurement of static lung volumes and lung diffusing capacity. Both maximal inspiratory and expiratory mouth pressures were decreased in GH deficiency. Vital capacity, N2 functional residual capacity and total lung capacity were significantly reduced when compared to healthy subjects. Conversely, the residual volume and diffusing lung capacity to CO did not show any significant change. No significant change of percentage forced expiratory volume in 1 s/forced vital capacity ratio was observed. The decrease of respiratory mouth pressures was not correlated to the decrease of lung volumes. In conclusion, the results of this study show that adult patients affected with childhood onset GH deficiency suffer from impairment of ventilatory function and a decrease of respiratory muscle pressures, probably due to reduction of respiratory muscle strength. Gaetano Lombardi, Via G Santacroce 40/1, 80 129 Naples, Italy
41
Mitchell, Mike, Kaan Kavakli, Miranda Norton, and Steve Austin. "Genotype Analysis of Patients with Hereditary Factor X Deficiency Enrolled in 2 Phase 3 Studies of Pdfx, a New High-Purity Factor X Concentrate." Blood 126, no. 23 (2015): 3511. http://dx.doi.org/10.1182/blood.v126.23.3511.3511.
Full textAbstract:
Abstract Introduction: Hereditary factor X (FX) deficiency is a rare, autosomal recessive bleeding disorder of variable severity, with an estimated prevalence of 1:500,000 to 1:1,000,000. Like hemophilia A and B, patients with severe FX deficiency commonly present with bleeding into joints, muscles, or mucous membranes. However, unlike the X-linked disorders of hemophilia A and B, hereditary FX deficiency occurs equally in both sexes due to the location of the FX gene (F10) on chromosome 13q34. A novel, high-purity, high-potency, plasma-derived FX concentrate (pdFX) has been developed for replacement therapy in patients with hereditary FX deficiency. This analysis examines the genotypic and phenotypic characteristics of subjects with hereditary FX deficiency enrolled in 2 prospective, open-label, multicenter phase 3 studies of pdFX. Methods: In study 1, subjects aged ≥12 years with moderate or severe FX deficiency (basal plasma FX activity [FX:C] of ≥1 and <5 IU/dL or <1 IU/dL, respectively) who required treatment with replacement therapy for ≥1 spontaneous or menorrhagic bleed in the past 12 months received pdFX as on-demand treatment or short-term preventative therapy for 6 months to 2 years. In study 2, subjects aged ≥12 years with mild to severe FX deficiency (basal plasma FX:C of <20 IU/dL) with a history of unusual bleeding received pdFX during and after surgery, until no longer at risk of postoperative bleeding. F10 genotyping was performed for each subject and, for study 1, F10 mutations were compared with bleed frequency to assess potential genotype-phenotype associations. Results: Study 1 enrolled 16 subjects (aged 12-58 years [mean 27.1 years], 62.5% female) from the United Kingdom (n=3), Spain (n=4), the United States (n=2), Turkey (n=6), and Germany (n=1); two patients had moderate and 14 had severe FX deficiency. Among the 16 subjects, 13 separate mutations were identified, of which 6 were novel. Nine mutations were missense mutations, 2 were deletions, 1 was a nonsense mutation, and 1 was a splice-site mutation. Consistent with the low FX:C of <5 IU/dL, all subjects either were homozygous for a single mutation (n=11) or had compound heterozygous mutations (n=5). Study 2 enrolled 2 male subjects (ages 55 years [United States] and 59 years [United Kingdom], respectively), both with mild FX deficiency (basal FX:C of 6 and 8 IU/dL, respectively) and compound heterozygous mutations. Of the 4 mutations identified in these 2 patients, 3 were novel. Of the subjects with moderate or severe FX deficiency (study 1), all 6 Turkish subjects had homozygous mutations resulting in an identical amino acid substitution (p.Gly262Asp). Two subjects in Spain and 1 each in the United States and Germany had mutations resulting in an identical amino acid substitution (p.Gly21Arg); one of these Spanish subjects was a compound heterozygote, with an additional missense mutation of p.Cys246Arg, while the other 3 subjects' mutations were homozygous. Two UK subjects were each homozygous for 2 different missense mutations (p.Phe71Ser and p.Ile451Phe, respectively), and the remaining 4 subjects each had unique compound heterozygous mutations (p.Val298Met and p.Tyr384Leufs*57 [United Kingdom], p.Glu350Lys and p.Gly450Arg [Spain], p.Cys57Phe and c.70+4A>G splice site mutation [Spain], and p.Gln411* and exon 2 deletion [United States], respectively). The basal level of expressed FX protein (FX:Ag) in 1 patient (87 U/dL) was within the normal range (73-127 U/dL), whereas FX:Ag levels in all other patients (range, <1-17 U/dL) were below normal. Due to the small numbers of each type of mutation, no conclusions could be drawn regarding the F10 genetic variants and bleed frequency. Each subject with mild FX deficiency (study 2) had unique compound heterozygous mutations (p.Tyr319His and c.71-1G>C splice site mutation [United Kingdom] and p.Cys90Arg and p.Gln416Leu [United States]). Basal FX:Ag levels in these patients (55 and 48 U/dL, respectively) were close to the normal range. Conclusions: In this analysis, 17 separate F10 mutations were identified in 18 subjects with mild to severe hereditary FX deficiency. Of the mutations identified, 9 are novel and have not previously been characterized. Support: Bio Products Laboratory Ltd. Disclosures Mitchell: Viapath: Employment, Other: employee of Viapath, which received funding from Bio Products Laboratory to perform genetic analysis. Kavakli:Baxter: Other: advisory board member and received educational and investigational support; Bayer: Other: advisory board member and received educational and investigational support; Novo Nordisk: Other: advisory board member and received educational and investigational support; Pfizer: Other: advisory board member and received educational and investigational support; Bio Products Laboratory: Other: received educational and investigational support; CSL Behring: Other: received educational and investigational support; Octapharma: Other: received educational and investigational support. Norton:Bio Products Laboratory: Employment. Austin:SOBI: Other: member of advisory board and received educational support; Pfizer: Other: member of advisory board and received educational support; Novo Nordisk: Other: member of advisory board and received educational support; CSL Behring: Other: member of advisory board and received educational support; Bio Products Laboratory: Other: member of advisory board and received educational support; Bayer: Other: member of advisory board and received educational support; Baxter: Other: member of advisory board and received educational support. Off Label Use: ALN-AT3 is an investigational drug for potential treatment of hemophilia. The data represent phase 1 data..
42
García-Hernández, P., M. Rodero, R. Gisbert-Criado, et al. "The effect of anti-Anisakis simplexantibody levels on C3 and C4 complement components in human sera." Journal of Helminthology 86, no. 2 (2011): 197–201. http://dx.doi.org/10.1017/s0022149x11000241.
Full textAbstract:
AbstractPreviously, anin vitroeffect was observed on the complement system not only of the excretory-secretory products but also of somatic antigens from L3Anisakis simplexlarvae. In the present work the effect of anti-A. simplexspecific antibodies on C3 and C4 levels in human sera was investigated. Up to 309 samples of sera were tested to determine levels of C3 and C4 and anti-A. simplexantibodies, including immunoglobulins IgG, IgM, IgA and IgE. Significant differences were observed between levels of C3 and C4 and all immunoglobulins except for IgE. In the case of immunoglobulins, the probability that an anti-A. simplexpositive subject has a C3 deficiency was 3.8 times higher than a subject without specific antibodies. In conclusion, an association between elevated levels of anti-A. simplexantibodies and C3 and C4 deficiency was demonstrated.
43
Jarolim, P., HL Rubin, V. Brabec, et al. "Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis." Blood 85, no. 3 (1995): 634–40. http://dx.doi.org/10.1182/blood.v85.3.634.bloodjournal853634.
Full textAbstract:
To elucidate the molecular basis of band 3 deficiency in a recently defined subset of patients with autosomal dominant hereditary spherocytosis (HS), we screened band 3 cDNA for single-strand conformation polymorphism (SSCP). In 5 of 17 (29%) unrelated HS subjects with band 3 deficiency, we detected substitutions R760W, R760Q, R808C, and R870W that were all coinherited with the HS phenotype. The involved arginines are highly conserved throughout evolution. To examine whether or not the product of the mutant allele is inserted into the membrane, we studied one HS subject who was doubly heterozygous for the R760Q mutation and the K56E (band 3sMEMPHIS) polymorphism that results in altered electrophoretic mobility of the band 3 Memphis proteolytic fragments. We detected only the band 3MEMPHIS in the erythrocyte membrane indicating that the protein product of the mutant, R760Q, band 3 allele is absent from the red blood cell membrane. These findings suggest that the R760Q substitution, and probably the other arginine subsitutions, produce band 3 deficiency either by precluding incorporation of the mutant protein into the red blood cell membrane or by leading to loss of mutant protein from differentiating erythroid precursors.
44
Hu, Ling, Wanqun Chen, Ming Cheng, et al. "MUC1 and MUC5AC Acting on Helicobacter pylori-Related Deficiency and Solid Syndrome of Spleen and Stomach." Evidence-Based Complementary and Alternative Medicine 2018 (2018): 1–8. http://dx.doi.org/10.1155/2018/9761919.
Full textAbstract:
To investigate the relationship of MUC1, MUC5AC, and the syndrome of spleen and stomach, 109 subjects (34 peptic ulcer (PU), 62 chronic gastritis (CG), and 13 healthy volunteers (CON)) were included. All the subjects included were surveyed with questionnaire to classify them into damp-heat syndrome of spleen and stomach (DHSS), spleen-qi deficiency syndrome (SQD), and CON, examined by gastric endoscope, and biopsied. Rapid urease and methylene blue staining (MBS) were performed on every subject to diagnose for Helicobacter pylori (Hp) infection, and both were defined as Hp-positive. Hematoxylin and eosin (HE) staining was performed on every specimen to explore the histomorphology, inflammatory degree, and inflammatory activity of different groups; then Elivision™ plus kit was used to test the expression of MUC1 and MUC5AC. All the results of digital images were reviewed by two experts blindly. The inflammatory degree with Hp infection was higher than those uninfected or CON, but no significant difference was found between DHSS and SQD. And the expressions of MUC5AC with positive Hp was higher than those with negative Hp or CON regardless of the deficiency and solid syndrome of spleen-stomach but not for MUC1. We speculate that the deficiency and solid syndrome of spleen-stomach is a condition like Tai Ji symbol of dynamic equilibrium, showing the higher expression of MUC5AC but no change of MUC1 in the circumstance of Hp infection.
45
Angelini, Corrado, Elena Pennisi, Sara Missaglia, and Daniela Tavian. "Metabolic lipid muscle disorders: biomarkers and treatment." Therapeutic Advances in Neurological Disorders 12 (January 2019): 175628641984335. http://dx.doi.org/10.1177/1756286419843359.
Full textAbstract:
Lipid storage myopathies (LSMs) are metabolic disorders of the utilization of fat in muscles due to several different defects. In this review, a molecular update of LSMs is presented and recent attempts of finding treatment options are discussed. The main topics discussed are: primary carnitine deficiency, riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency, neutral lipid storage disorders and carnitine palmitoyl transferase deficiency. The most frequent presentations and genetic abnormalities are summarized. We present their diagnosis utilizing biomedical and morphological biomarkers and possible therapeutic interventions. The treatment of these metabolic disorders is a subject of active translational research but appears, in some cases, still elusive.
46
Bo Jansen, Rasmus, and Ole Lander Svendsen. "The Effect of Oral Loading Doses of Cholecalciferol on the Serum Concentration of 25-OH-Vitamin-D." International Journal for Vitamin and Nutrition Research 84, no. 1-2 (2014): 45–54. http://dx.doi.org/10.1024/0300-9831/a000192.
Full textAbstract:
Background/Objectives: Severe vitamin D deficiency can be treated with oral loading doses of cholecalciferol. Our objective was to develop an algorithm to accurately calculate the amount of cholecalciferol needed for a loading dose, and what factors should be taken into account.Methods: Two studies were conducted on subjects with Vitamin D deficiency. Study 1 was observational, retrospective and included 88 subjects treated with a daily supplementation of cholecalciferol. 60 of these furthermore received a loading dose, calculated by an algorithm.Study 2 was prospective and included 29 subjects treated with a cholecalciferol loading dose, calculated by an algorithm developed based on data from study 1, which included BMI.Results: Baseline 25OH-vit.D was below 25 nmol/L (study 1) and 23 nmol/L (study 2). Subjects were given a single loading dose of cholecalciferol, averaging 172,000 IU (study 1) and 212,000 IU (study 2), based on their baseline 25OH-vit.D level.25OH-vit.D increased by 35 nmol/L (study 1) and 56 nmol/L (study 2)(range 113.0, SD 29.79) respectively. In study 2 the increase lead to an end 25OH-vit.D of 79 nmol/L - not significantly different from the target value of 80 nmol/L (P = 0.46). The increase in 25OH-vit.D in study 1 was significantly lower than in study 2 (P<0.001).Conclusion: When calculating loading doses of cholecalciferol, taking subject BMI into account gives a better estimate of the loading dose of vitamin D3 needed to treat vitamin D deficiency. It does not, however, remove the large interindividual variation in dose-response.
47
Kang, Namkil. "Anaphora and Merge." Studies in English Language Teaching 9, no. 1 (2021): p15. http://dx.doi.org/10.22158/selt.v9n1p15.
Full textAbstract:
The ultimate goal of this paper is to show that binding can be captured in terms of Merge and Transfer. It is well-known that the phi-deficiency view of anaphora is taken to be the predominant view in the Minimalist literature and that an anaphor is assumed to be a nominal that lacks one or more phi-features. We examine the phi-deficiency view of anaphora and argue that animate features, phi-features, and R-features are necessary. Korean ku-casin “he-self” and English himself underspecified for R-features are subject/object/indirect object-oriented and are strictly local anaphors. On the other hand, Korean caki “self” underspecified for phi-features is subject/object-oriented and both locally and non-locally bound. Korean caki-casin “self-self” underspecified for both features (phi-features and R-features) are subject-oriented and strictly a local anaphor. Finally, within the Minimalist work, we show that binding can be captured by animate features, phi-features, R-features, Merge, and Transfer. Transfer provides the governing category and semantic computations, by which binding can be captured.
48
Kondratenko, I. V., S. S. Vakhlayrskaya, and D. V. Rogozhin. "DEFICIENCY OF LRBA: BIBLIOGRAPHICAL REVIEW AND CASE REPORT." Pediatria. Journal named after G.N. Speransky 100, no. 2 (2021): 192–203. http://dx.doi.org/10.24110/0031-403x-2021-100-2-192-203.
Full textAbstract:
Since the description of the first primary immunodeficiencies (PIDs) in the 50–60s of the last century, they have been the subject of intensive research aimed at elucidating their etiology and finding effective treatments. The development of next-generation sequencing (NGS) methods made it possible to reveal the genetic basis of many new forms of PID, which were previously attributed to various syndromes due to their clinical and immunological characteristics. An example of such a PID is the LRBA (the lipopolysaccharide-responsive and beige-like anchor protein) deficiency, sometimes called LATAIE [LRBA deficiency with autoantibodies, regulatory T (Treg) cell defects, autoimmune infiltration, and enteropathy]. The article provides information on the main role of the LRBA molecule in the functions of immunocompetent cells, describes immunological disorders and clinical manifestations of LRBA deficiency and the principles of treatment of diseases. Two own observations of LRBA deficiency are presented.
49
Barham, Peter. "Mental deficiency and the democratic subject: Matthew Thomson,The Problem of Mental Deficiency: Eugenics, Democracy and Social Policy in Britain, c. 1870-1959." History of the Human Sciences 12, no. 1 (1999): 111–14. http://dx.doi.org/10.1177/09526959922120180.
Full text
50
Malczewska, Jadwiga, Beata Szczepańska, Romuald Stupnicki, and Witold Sendecki. "The Assessment of Frequency of Iron Deficiency in Athletes from the Transferrin Receptor-Ferritin Index." International Journal of Sport Nutrition and Exercise Metabolism 11, no. 1 (2001): 42–52. http://dx.doi.org/10.1123/ijsnem.11.1.42.
Full textAbstract:
The transferrin receptor-ferritin index (sTfR/logFerr) was determined in 131 male and 121 female athletes in order to assess the frequency of iron deficiency (threshold value of that index taken as 1.8). Blood was drawn for determining morphological indices as well as sTfR, ferritin, iron, total iron binding capacity (TIBC), and haptoglobin. A significantly (p < .01) higher incidence of iron deficiency was observed in women (26%) than in men (11%). The iron deficiency was latent, since no subject was found to be anemic. The plasma iron was significantly lower and TIBC higher (p < .001) in both iron-deficient subgroups than in the non-deficient ones. This confirmed the latent character of iron deficiency. Some hematological indices (Hb, MCH, MCHC, MCV) were significantly lower in iron-deficient female athletes than in male athletes, which suggested a more profound iron deficiency in the former. The sTfR/logFerr index might thus be useful in detecting iron deficiency in athletes, especially in those with erythropoiesis disorders, since physical loads may affect the widely used ferritin levels.