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1
Sokolovsky, N., A. Cook, H. Hunt, P. Giunti, and L. Cipolotti. "A Preliminary Characterisation of Cognition and Social Cognition in Spinocerebellar Ataxia Types 2, 1, and 7." Behavioural Neurology 23, no. 1-2 (2010): 17–29. http://dx.doi.org/10.1155/2010/395045.
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Over the last decade, studies have implicated the cerebellum not only in motor functioning, but also in cognition and social cognition. Although some aspects of cognition have been explored in the five most common forms of Spinocerebellar Ataxia (SCA), social cognition in these patients has rarely been examined. The present study provides a preliminary characterisation of the severity of cognitive and social cognitive impairments in patients with SCA2, SCA1 and SCA7 using an identical battery to the one previously used in SCA3 and SCA6 patients for comparison. The cognitive profiles of SCA1 and SCA7 patients were comparable to that of SCA6 patients; SCA1 patients had relatively intact profiles, while SCA7 patients demonstrated only some selective deficits. In contrast, SCA2 patients showed the greatest impairments, similarly to SCA3 patients. On tests of social cognition, SCA2 and SCA7 patients were impaired on a task of emotion attribution, whereas one SCA1 patient had a Theory of Mind deficit, which has also been documented in SCA3 and SCA6. We provide preliminary evidence that the neuropsychological profiles of SCA patients correspond well with the severity of pathological and clinical features. Moreover, these patients may also have social cognition impairments. Overall, we suggest that there is a degree of heterogeneity in the types of cognitive and social cognitive impairments in SCA patients.
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Moro, Adriana, Renato Puppi Munhoz, Walter Oleschko Arruda, Salmo Raskin, and Hélio Afonso Ghizoni Teive. "Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias." Arquivos de Neuro-Psiquiatria 71, no. 7 (July 2013): 428–30. http://dx.doi.org/10.1590/0004-282x20130056.
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ObjectiveTo investigate the relevance of the clinical finding of bulging eyes (BE) in a large Brazilian cohort of spinocerebellar ataxias (SCA), to assess its importance in clinical differential diagnosis among SCA.MethodsThree hundred sixty-nine patients from 168 Brazilian families with SCA were assessed with neurological examination and molecular genetic testing. BE was characterized by the presence of eyelid retraction. Genetically ascertained SCA3 was detected in 167 patients, SCA10 in 68 patients, SCA2 in 20, SCA1 in 9, SCA7 in 6, and SCA6 in 3 patients.ResultsBE was detected in 123 patients with SCA (33.3%), namely 109 of the 167 SCA3 patients (65.3%) and in 5 of the others SCA patients (1 SCA10 patient, 2 SCA1 patients and 2 SCA2 patients).ConclusionBE was detected in the majority of patients with SCA3 (65.3%) and could be used with a clinical tool for the differential diagnosis of SCA.
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Freund, Aline Andrade, Rosana Hermínia Scola, Hélio A. G. Teive, Raquel Cristina Arndt, Magda Clara Vieira da Costa-Ribeiro, Lupe Furtado Alle, and Lineu Cesar Werneck. "Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals." Arquivos de Neuro-Psiquiatria 67, no. 4 (December 2009): 1124–32. http://dx.doi.org/10.1590/s0004-282x2009000600034.
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The diagnosis and incidence of spinocerebelar ataxias (SCA) is sometimes difficult to analyze due the overlap of phenotypes subtypes and are disorders of mutations caused by CAG trinucleotide repeat expansion. To investigate the incidence of the SCA in Southern Brazil, we analyzed the trinucleotide repeats (CAG)n at the SCA1, SCA2, SCA3, SCA6 and SCA7 loci to identify allele size ranges and frequencies. We examined blood sample from 154 asymptomatic blood donors and 115 individuals with progressive ataxias. PCR products were submitted to capillary electrophoresis. In the blood donors, the ranges of the five loci were: SCA1, 19 to 36 (CAG)n; SCA2, 6 to 28 (CAG)n; SCA3, 12 to 34 (CAG)n; SCA6, 2 to 13 (CAG)n; and SCA7, 2 to 10 (CAG)n. No deviations from Hardy-Weinberg equilibrium were detected. In the ataxia group, we found (CAG)n above the range of the asymptomatic blood donors in SCA3 (21.74%) followed by SCA2 (5.22%), SCA7 (2.61%), SCA6 (0.87%), and no cases of SCA1. The remaining 80 cases (69.56%) have different diagnoses from the type here studied. These data defined the alleles and their frequencies, as well as demonstrated their stability in the population not affected. The molecular diagnosis test confirmed the clinical diagnosis in 28/45 cases and classified another 7/70 from the clinical unclassified ataxias group.
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Lopes-Cendes, Iscia, Carlos E. Steiner, Isabel Silveira, Walter Pinto-Junior, Jayme A. Maciel, and Guy A. Rouleau. "Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1." Arquivos de Neuro-Psiquiatria 54, no. 3 (September 1996): 412–18. http://dx.doi.org/10.1590/s0004-282x1996000300009.
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The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of late onset neurodegenerative disorders. To date, seven different genes causing autosomal dominant SCA have been mapped: SCA1, SCA2, Machado-Joseph disease (MJD)/SCA3, SCA4, SCA5, SCA7 and dentatorubropallidoluysian atrophy (DRPLA). Expansions of an unstable trinucleotide CAG repeat cause three of these disorders: SCA1, MJD/SCA3 and DRPLA. We studied one Brazilian family segregating an autosomal dominant type of SCA. A total of ten individuals were examined and tested for the presence of the SCA1, MJD and DRPLA mutations. Three individuals, one male and two females, were considered affected based on neurological examination; ages at onset were: 32, 36 and 41 years. The first complaint in all three patients was gait ataxia which progressed slowly over the years. Six individuals showed one allele containing an expanded CAG repeat in the SCA1 gene. The mean size of the expanded allele was 48.2 CAG units. Instability of the expanded CAG tract was seen in the two transmissions that were observed in this family. In both occasions there was a contraction of the CAG tract. Our study demonstrates that SCA1 occurs in the Brazilian population. In addition, our results stress the importance of molecular studies in the confirmation of diagnosis and for pre-symptomatic testing in SCAs.
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Gómez, Rocío, Yessica S. Tapia-Guerrero, Bulmaro Cisneros, Lorena Orozco, César Cerecedo-Zapata, Elvia Mendoza-Caamal, Gerardo Leyva-Gómez, Norberto Leyva-García, Luis Velázquez-Pérez, and Jonathan J. Magaña. "Genetic Distribution of Five Spinocerebellar Ataxia Microsatellite Loci in Mexican Native American Populations and Its Impact on Contemporary Mestizo Populations." Genes 13, no. 1 (January 16, 2022): 157. http://dx.doi.org/10.3390/genes13010157.
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Spinocerebellar ataxias (SCAs) conform a heterogeneous group of neurodegenerative disorders with autosomal dominant inheritance. Five of the most frequent SCAs are caused by a CAG repeat expansion in the exons of specific genes. The SCAs incidence and the distribution of polymorphic CAG alleles vary among populations and ethnicities. Thus, characterization of the genetic architecture of ethnically diverse populations, which have undergone recent admixture and demographic events, could facilitate the identification of genetic risk factors. Owing to the great ethnic diversity of the Mexican population, this study aimed to analyze the allele frequencies of five SCA microsatellite loci (SCA1, SCA2, SCA3, SCA6, and SCA7) in eleven Mexican Native American (MNA) populations. Data from the literature were used to compare the allelic distribution of SCA loci with worldwide populations. The SCA loci allelic frequencies evidenced a certain genetic homogeneity in the MNA populations, except for Mayans, who exhibited distinctive genetic profiles. Neither pathological nor large normal alleles were found in MNA populations, except for the SCA2 pre-mutated allele in the Zapotec population. Collectively, our findings demonstrated the contribution of the MNA ancestry in shaping the genetic structure of contemporary Mexican Mestizo populations. Our results also suggest that Native American ancestry has no impact on the origin of SCAs in the Mexican population. Instead, the acquisition of pathological SCA alleles could be associated with European migration.
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Lopes-Cendesi, Iscia, Hélio G. A. Teive, Maria E. Calcagnotto, Jaderson C. da Costa, Francisco Cardoso, Erika Viana, Jaime A. Maciel, et al. "Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients." Arquivos de Neuro-Psiquiatria 55, no. 3B (September 1997): 519–29. http://dx.doi.org/10.1590/s0004-282x1997000400001.
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Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by an unstable triplet repeat and can present as SCA in late onset patients. We investigated the frequency of the SCA1, SCA2, MJD/SCA3 and DRPLA mutations in 328 Brazilian patients with SCA, belonging to 90 unrelated families with various patterns of inheritance and originating in different geographic regions of Brazil. We found mutations in 35 families (39%), 32 of them with a clear autosomal dominant inheritance. The frequency of the SCA1 mutation was 3% of all patients; and 6 % in the dominantly inherited SCAs. We identified the SCA2 mutation in 6% of all families and in 9% of the families with autosomal dominant inheritance. The MJD/SCA3 mutation was detected in 30 % of all patients; and in the 44% of the dominantly inherited cases. We found no DRPLA mutation. In addition, we observed variability in the frequency of the different mutations according to geographic origin of the patients, which is probably related to the distinct colonization of different parts of Brazil. These results suggest that SCA may be occasionally caused by the SCA1 and SCA2 mutations in the Brazilian population, and that the MJD/SCA3 mutation is the most common cause of dominantly inherited SCA in Brazil.
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Kraft, Scott, Sarah Furtado, Ranjit Ranawaya, Jillian Parboosingh, Stacey Bleoo, Karen McElligott, Peter Bridge, Sian Spacey, Shyamal Das, and Oksana Suchowersky. "Adult Onset Spinocerebellar Ataxia in a Canadian Movement Disorders Clinic." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 32, no. 4 (May 2005): 450–58. http://dx.doi.org/10.1017/s0317167100004431.
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ABSTRACT:Background:The spinocerebellar ataxias (SCAs) are a genetically and clinically heterogeneous group of neurodegenerative disorders. Relative frequencies vary within different ethnic groups and geographical locations.Objectives:1) To determine the frequencies of hereditary and sporadic adult onset SCAs in the Movement Disorders population; 2) to assess if the fragile X mental retardation gene 1 (FMR1) premutation is found in this population.Methods:A retrospective chart review of individuals with a diagnosis of adult onset SCA was carried out. Testing for SCA types 1, 2, 3, 6, 7, and 8, Dentatorubral-pallidoluysian atrophy (DRPLA), Friedreich ataxia and the FMR1 expansion was performed.Results:A total of 69 patients in 60 families were identified. Twenty-one (35%) of the families displayed autosomal dominant and two (3.3%) showed autosomal recessive (AR) pattern of inheritance. A positive but undefined family history was noted in nine (15%). The disorder appeared sporadic in 26 patients (43.3%). In the AD families, the most common mutation was SCA3 (23.8%) followed by SCA2 (14.3%) and SCA6 (14.3%). The SCA1 and SCA8 were each identified in 4.8%. FA was found in a pseudodominant pedigree, and one autosomal recessive pedigree. One sporadic patient had a positive test (SCA3).Dentatorubral-pallidoluysian atrophy and FMR1 testing was negative.Conclusion:A positive family history was present in 53.3% of our adult onset SCA patients. A specific genetic diagnosis could be given in 61.9% of dominant pedigrees with SCA3 being the most common mutation, followed by SCA2 and SCA6. The yield in sporadic cases was low. The fragile X premutation was not found to be responsible for SCA.
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Coarelli, Giulia, Alexis Brice, and Alexandra Durr. "Recent advances in understanding dominant spinocerebellar ataxias from clinical and genetic points of view." F1000Research 7 (November 12, 2018): 1781. http://dx.doi.org/10.12688/f1000research.15788.1.
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Abstract Spinocerebellar ataxias (SCAs) are rare types of cerebellar ataxia with a dominant mode of inheritance. To date, 47 SCA subtypes have been identified, and the number of genes implicated in SCAs is continually increasing. Polyglutamine (polyQ) expansion diseases (ATXN1/SCA1, ATXN2/SCA2, ATXN3/SCA3, CACNA1A/SCA6, ATXN7/SCA7, TBP/SCA17, and ATN1/DRPLA) are the most common group of SCAs. No preventive or curative treatments are currently available, but various therapeutic approaches, including RNA-targeting treatments, such as antisense oligonucleotides (ASOs), are being developed. Clinical trials of ASOs in SCA patients are already planned. There is, therefore, a need to identify valid outcome measures for such studies. In this review, we describe recent advances towards identifying appropriate biomarkers, which are essential for monitoring disease progression and treatment efficacy. Neuroimaging biomarkers are the most powerful markers identified to date, making it possible to reduce sample sizes for clinical trials. Changes on brain MRI are already evident at the premanifest stage in SCA1 and SCA2 carriers and are correlated with CAG repeat size. Other potential biomarkers have also been developed, based on neurological examination, oculomotor study, cognitive assessment, and blood and cerebrospinal fluid analysis. Longitudinal studies based on multimodal approaches are required to establish the relationships between parameters and to validate the biomarkers identified.
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Orr, Harry T. "Cell biology of spinocerebellar ataxia." Journal of Cell Biology 197, no. 2 (April 16, 2012): 167–77. http://dx.doi.org/10.1083/jcb.201105092.
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Ataxia is a neurological disorder characterized by loss of control of body movements. Spinocerebellar ataxia (SCA), previously known as autosomal dominant cerebellar ataxia, is a biologically robust group of close to 30 progressive neurodegenerative diseases. Six SCAs, including the more prevalent SCA1, SCA2, SCA3, and SCA6 along with SCA7 and SCA17 are caused by expansion of a CAG repeat that encodes a polyglutamine tract in the affected protein. How the mutated proteins in these polyglutamine SCAs cause disease is highly debated. Recent work suggests that the mutated protein contributes to pathogenesis within the context of its “normal” cellular function. Thus, understanding the cellular function of these proteins could aid in the development of therapeutics.
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Park, Hyeyoung, Han-Joon Kim, and Beom S. Jeon. "Parkinsonism in Spinocerebellar Ataxia." BioMed Research International 2015 (2015): 1–11. http://dx.doi.org/10.1155/2015/125273.
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Spinocerebellar ataxia (SCA) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse SCA subtypes. Both levodopa responsive Parkinson disease (PD) like phenotype and atypical parkinsonism have been described especially in SCA2, SCA3, and SCA17 with geographic differences in prevalence. SCA2 is the most frequently reported subtype of SCA related to parkinsonism worldwide. Parkinsonism in SCA2 has unique genetic characteristics, such as low number of expansions and interrupted structures, which may explain the sporadic cases with low penetrance. Parkinsonism in SCA17 is more remarkable in Asian populations especially in Korea. In addition, an unclear cutoff of the pathologic range is the key issue in SCA17 related parkinsonism. SCA3 is more common in western cohorts. SCA6 and SCA8 have also been reported with a PD-like phenotype. Herein, we reviewed the epidemiologic, clinical, genetic, and pathologic features of parkinsonism in SCAs.
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Chae, Keun, Kangling Zhang, Li Zhang, Dimitrios Morikis, Sun Tae Kim, Jean-Claude Mollet, Noelle de la Rosa, Kimberly Tan, and Elizabeth M. Lord. "Two SCA (Stigma/Style Cysteine-rich Adhesin) Isoforms Show Structural Differences That Correlate with Their Levels of in Vitro Pollen Tube Adhesion Activity." Journal of Biological Chemistry 282, no. 46 (September 18, 2007): 33845–58. http://dx.doi.org/10.1074/jbc.m703997200.
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Lily pollen tubes grow adhering to an extracellular matrix produced by the transmitting tract epidermis in a hollow style. SCA, a small (∼9.4 kDa), basic protein plus low esterified pectin from this extracellular matrix are involved in the pollen tube adhesion event. The mode of action for this adhesion event is unknown. We partially separated three SCA isoforms from the lily stigma in serial size exclusion column fractions (SCA1, 9370 Da; SCA2, 9384 Da; SCA3, 9484 Da). Peptide sequencing analysis allowed us to determine two amino acid variations in SCA3, compared with SCA1. For SCA2, however, there are more sequence variations yet to be identified. Our structural homology and molecular dynamics modeling results show that SCA isoforms have the plant nonspecific lipid transfer protein-like structure: a globular shape of the orthogonal 4-helix bundle architecture, four disulfide bonds, an internal hydrophobic and solvent-inaccessible cavity, and a long C-terminal tail. The Ala71 in SCA3, replacing the Gly71 in SCA1, has no predictable effect on structure. The Arg26 in SCA3, replacing the Gly26 in SCA1, is predicted to cause structural changes that result in a significantly reduced volume for the internal hydrophobic cavity in SCA3. The volume of the internal cavity fluctuates slightly during the molecular dynamics simulation, but overall, SCA1 displays a larger cavity than SCA3. SCA1 displays higher activity than SCA3 in the in vitro pollen tube adhesion assay. No differences were found between the two SCAs in a binding assay with pectin. The larger size of the hydrophobic cavity in SCA1 correlates with its higher adhesion activity.
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Susilowati, Mariana, and Cheppy Syukur. "Karakterisasi Beberapa Aksesi Serai Wangi (<i>Cymbopogon nardus</i> L.) Asal Cianjur." Vegetalika 11, no. 4 (November 29, 2022): 305. http://dx.doi.org/10.22146/veg.77033.
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Serai wangi (Cymbopogon nardus L.) merupakan tanaman aromatik yang kaya akan kandungan senyawa kimia penting terutama sitronela. Minyak atsiri dari tanaman serai wangi sering digunakan sebagai bahan baku utama berbagai industri. Perakitan varietas-varietas unggul serai wangi masih sangat diperlukan dalam rangka upaya peningkatan produksi serai wangi nasional. Pemanfaatan aksesi-aksesi dari sentra produksi serai wangi seperti Cianjur diharapkan dapat mendukung program pemuliaan serai wangi secara efektif dan efisien. Informasi genetik dari aksesi-aksesi lokal dapat diketahui melalui kegiatan karakterisasi. Tujuan dari penelitian ini adalah untuk mengetahui karakter morfologi kualitatif dan kuantitatif beberapa aksesi serai wangi hasil eksplorasi dari daerah Cianjur, Jawa Barat. Materi genetik yang digunakan pada penelitian ini adalah 10 aksesi Cianjur (SC1, SC2, SC3, SC4, SC5, SC6, SC7, SC8, SC9, dan SC10). Karakter yang diamati berupa karakter kuantitatif dan kualitatif. Dari hasil analisis menunjukkan bahwa aksesi SC1 merupakan aksesi terbaik dari Cianjur yang memiliki keunggulan pada semua karakter kuantitatif yang diamati terutama karakter panjang daun, tinggi batang, diameter batang, dan aroma daun yang tajam. Sekitar 75% karakter kuantitatif serai wangi Cianjur menunjukkan hasil korelasi antar karakter yang positif. Aksesi-aksesi dari Cianjur memiliki ciri-ciri yang sama yaitu batang berwarna VG 84B, pangkal daun berbentuk cekung, dan permukaan daun berwarna GGN 138C. Aksesi SC1 dan SC5 memiliki hubungan kekerabatan yang jauh dan berpotensi dikembangkan sebagai tetua persilangan.
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Seshagiri, Doniparthi V., Pramod Kumar Pal, Sanjeev Jain, and Ravi Yadav. "Optokinetic nystagmus in patients with SCA." Neurology 91, no. 13 (August 29, 2018): e1255-e1261. http://dx.doi.org/10.1212/wnl.0000000000006250.
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ObjectiveTo characterize the clinical features in patients with spinocerebellar ataxia (SCA) type 1, SCA2, and SCA3 and to evaluate the oculomotor dysfunction by using optokinetic nystagmus (OKN) testing, which may be a sensitive marker.MethodsIn this prospective observational study, all patients underwent detailed neurologic examination with special emphasis on eye movements. OKN was evaluated with a tape. Disease severity was measured with the International Co-Operative Ataxia Rating Scale (ICARS).ResultsA total of 73 genetically confirmed patients were included, of whom 28, 30, and 15 patients were positive for SCA1, SCA2, and SCA3, respectively. Dystonia was more common in patients with SCA3 (46%), and absent ankle jerk was more common in those with SCA2 (21.4%). Brisk deep tendon reflexes were common in patients with SCA1 (46.6%), followed by patients with SCA3 (26.6%) and SCA2 (7.1%). Vertical OKN was impaired in all patients and absent in 86.6% of patients with SCA1, 96% of those with SCA2, and 80% of those with SCA3. Horizontal OKN was absent in 30% of patients with SCA1, 57% of patients with SCA2, and 33% of those with SCA3. Higher motor disability (posture and gait, kinetic functions [Motor Disability] subscore on the ICARS) was associated with higher oculomotor dysfunction measured by OKN-saccades impairment grading but not with the Ocular Disorder subscore of ICARS (ICARS-OD).ConclusionOKN-saccades are a better and sensitive bedside clinical tool to quantify oculomotor dysfunction in neurodegenerative ataxias. Its role needs to be tested further in presymptomatic carriers. The current ICARS-OD scale to grade oculomotor dysfunction in degenerative ataxias need to be modified.
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Rahman, Md Siddiqur, Yoshitaka Nagai, H. Akiko Popiel, Muzahed Uddin Ahmed, Md Jalal Uddin, and Talsushi Toda. "Genetic testing for Spinocerebellar Ataxias (SCA) in Parkinsonism." Bangladesh Journal of Neuroscience 28, no. 1 (November 30, 2013): 16–23. http://dx.doi.org/10.3329/bjn.v28i1.17188.
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Objective: The study was conducted to find out Spinocerebellar Ataxias (SCA) by genetic analysis from those presenting with parkinsonism in the Neurology department of Mymensingh Medical College.Materials and methods: A sample of about 5ml blood was collected by venipuncture in EDTA tube with informed consent from the patients following institutional ethics committee approval by genetic study from 7 healthy people and 9 patients. The neurological disorder along with a complete physical and/or psychological, as well as family history and demographic data was recorded with a prescribed questionnaire by the neurologists of Mymensingh Medical College. Extraction of genomic DNA from the venous blood using FlexiGene DNA kit (Qiagen, Japan) was performed in Department of Medicine, Bangladesh Agricultural University, Mymensingh 2202, Bangladesh. The extracted DNA was stored and accumulated and then these DNA were sent to Division of Clinical Genetics, Department of Medical Genetics, Osaka University Medical School, Suita, Osaka 565 0871, Japan for PCR and further analysis. PCR amplification of the CAG repeat was performed for the SCA1, SCA2, SCA3, SCA6 loci using primers SCA1N-F1 and SCA1N-R1, SCA2-F1 and SCA2-R1, MJDF1 and MJDR1, SCA6-F1 and SCA6-R1, respectively.Results: SCA1 PCR of both healthy individual and suspected PD patients DNA is about 250 bp (no. of CAG repeats=36). SCA2 PCR products reveal the DNA products of about 150 bp (no. of CAG repeats=23) except one patient that we suspected and it was sequenced and revealed 175bp (no. of CAG repeats=30). SCA3 PCR product size of both healthy individual and patient DNA is within about 250 (no. of CAG=11) to 300 bp (no. of CAG repeats=28) except one patient which is about 320bp and its CAG repeats is about 34. SCA6 PCR product size of both healthy individual and patient DNA is about 150bp (no. of CAG=16).Conclusion: This is the first time from Bangladesh regarding the range of CAG repeats in patients as well as healthy individual.
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Wetchaphanphesat, Suppachok, Anek Mungaomklang, Chutima Papsing, and Teeratorn Pulkes. "Epidemiological, clinical, and genotype characterization of spinocerebellar ataxia type in families in Buriram province, northeast Thailand." Asian Biomedicine 11, no. 6 (December 30, 2017): 469–74. http://dx.doi.org/10.1515/abm-2018-0024.
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AbstractBackgroundIn Thais, the most prevalent type of spinocerebellar ataxia (SCA) is type 3, most commonly known as Machado–Joseph disease (MJD), followed by SCA type 1 (SCA1), SCA2, and SCA6.ObjectivesTo describe the epidemiological, clinical, and genotypic features of SCA in northeastern Thailand and to study 2 associations: between syndromic features and the genotype of SCA, and between health determinants and scores on the scale for the assessment and rating of ataxia (SARA).MethodsWe conducted a cross-sectional study of 24 patients with autosomal dominant SCA from 13 families recruited from Buriram province in northeast Thailand between December 2009 and January 2014. Patients provided a clinical history and were examined by a neurologist. DNA was extracted from the peripheral blood of each patient. We analyzed associations between the type of SCA and sex, age, family history, clinical features, any underlying disease, age at onset, body weight, smoking status, family history, alcohol consumption, head injury history, and SARA.ResultsSeven of the families were positive for SCA1 and 6 for MJD. There were 24 index patients from these autosomal dominant SCA families, including 13 with SCA1 and 11 with MJD. Their average age was 43.7 years (range 20–72 years), whereas their average age at disease onset was 36.9 years (range 18–59 years). Pyramidal signs between MJD and SCA1 were not significantly different. Extrapyramidal features appeared uncommon. Horizontal nystagmus and upward gaze paresis were significantly associated with MJD. There were no significant differences in demographic data between the groups with SARA scores ≥15 or <15.ConclusionsMJD and SCA1 were the 2 adult-onset cerebellar degenerative diseases found in Buriram province. Clinical clues for differentiating between them were upward gaze paresis and horizontal nystagmus, which were significantly more common in MJD.
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Riley, Sean P., Kenneth C. Goh, Timothy M. Hermanas, Marissa M. Cardwell, Yvonne G. Y. Chan, and Juan J. Martinez. "The Rickettsia conorii Autotransporter Protein Sca1 Promotes Adherence to Nonphagocytic Mammalian Cells." Infection and Immunity 78, no. 5 (February 22, 2010): 1895–904. http://dx.doi.org/10.1128/iai.01165-09.
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ABSTRACT The pathogenesis of spotted fever group (SFG) Rickettsia species, including R. conorii and R. rickettsii, is acutely dependent on adherence to and invasion of host cells, including cells of the mammalian endothelial system. Bioinformatic analyses of several rickettsia genomes revealed the presence of a cohort of genes designated sca genes that are predicted to encode proteins with homology to autotransporter proteins of Gram-negative bacteria. Previous work demonstrated that three members of this family, rOmpA (Sca0), Sca2, and rOmpB (Sca5) are involved in the interaction with mammalian cells; however, very little was known about the function of other conserved rickettsial Sca proteins. Here we demonstrate that sca1, a gene present in nearly all SFG rickettsia genomes, is actively transcribed and expressed in R. conorii cells. Alignment of Sca1 sequences from geographically diverse SFG Rickettsia species showed that there are high degrees of sequence identity and conservation of these sequences, suggesting that Sca1 may have a conserved function. Using a heterologous expression system, we demonstrated that production of R. conorii Sca1 in the Escherichia coli outer membrane is sufficient to mediate attachment to but not invasion of a panel of cultured mammalian epithelial and endothelial cells. Furthermore, preincubation of a recombinant Sca1 peptide with host cells blocked R. conorii cell association. Together, these results demonstrate that attachment to mammalian cells can be uncoupled from the entry process and that Sca1 is involved in the adherence of R. conorii to host cells.
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Brown, Alexander S., Pratap Meera, Banu Altindag, Ravi Chopra, Emma M. Perkins, Sharan Paul, Daniel R. Scoles, et al. "MTSS1/Src family kinase dysregulation underlies multiple inherited ataxias." Proceedings of the National Academy of Sciences 115, no. 52 (December 7, 2018): E12407—E12416. http://dx.doi.org/10.1073/pnas.1816177115.
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The genetically heterogeneous spinocerebellar ataxias (SCAs) are caused by Purkinje neuron dysfunction and degeneration, but their underlying pathological mechanisms remain elusive. The Src family of nonreceptor tyrosine kinases (SFK) are essential for nervous system homeostasis and are increasingly implicated in degenerative disease. Here we reveal that the SFK suppressor Missing-in-metastasis (MTSS1) is an ataxia locus that links multiple SCAs. MTSS1 loss results in increased SFK activity, reduced Purkinje neuron arborization, and low basal firing rates, followed by cell death. Surprisingly, mouse models for SCA1, SCA2, and SCA5 show elevated SFK activity, with SCA1 and SCA2 displaying dramatically reduced MTSS1 protein levels through reduced gene expression and protein translation, respectively. Treatment of each SCA model with a clinically approved Src inhibitor corrects Purkinje neuron basal firing and delays ataxia progression in MTSS1 mutants. Our results identify a common SCA therapeutic target and demonstrate a key role for MTSS1/SFK in Purkinje neuron survival and ataxia progression.
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Wang, Jiaqi, Atsuhiko Sugiyama, Hajime Yokota, Shigeki Hirano, Graham Cooper, Hiroki Mukai, Kenji Ohira, et al. "Diagnostic efficacy of the magnetic resonance T1w/T2w ratio for the middle cerebellar peduncle in multiple system atrophy and spinocerebellar ataxia: A preliminary study." PLOS ONE 17, no. 4 (April 15, 2022): e0267024. http://dx.doi.org/10.1371/journal.pone.0267024.
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Background The standardized T1-weighted/T2-weighted (sT1w/T2w) ratio for the middle cerebellar peduncle (MCP) has been reported to be sensitive for detecting degenerative changes in the cerebellar subtype of multiple system atrophy (MSA-C), even in the early stages. We aimed to investigate the diagnostic value of the MCP sT1w/T2w ratio for differentiating between MSA-C and spinocerebellar ataxia (SCA). Methods We included 32 MSA-C, 8 SCA type 3 (SCA3), 16 SCA type 6 (SCA6) patients, and 17 controls, and the MCP sT1w/T2w ratio was analyzed using a region-of-interest approach. The diagnostic performance of the MCP sT1w/T2w ratio in discriminating among MSA-C, SCA3, and SCA6 was assessed and compared with diagnosis based on visual interpretation of MCP hyperintensities and the “hot cross bun” (HCB) sign. Results MCP sT1w/T2w ratio values were markedly lower in patients with MSA-C than in those with SCA3, those with SCA6, and controls (p < 0.001). The MCP sT1w/T2w ratio showed high diagnostic accuracy for distinguishing MSA-C from SCA3 (area under curve = 0.934), SCA6 (area under curve = 0.965), and controls (area under curve = 0.980). The diagnostic accuracy of the MCP sT1w/T2w ratio for differentiating MSA-C from SCA3 or SCA6 (90.0% for MSA-C vs. SCA3, and 91.7% for MSA-C vs. SCA6) was comparable to or superior than that of visual interpretation of MCP hyperintensities (80.0–87.5% in MSA-C vs. SCA3 and 87.6–97.9% in MSA-C vs. SCA6) or the HCB sign (72.5–80.0% in MSA-C vs. SCA3 and 77.1–93.8% in MSA-C vs. SCA6). Conclusions The MCP sT1w/T2w ratio might be a sensitive imaging-based marker for detecting MSA-C-related changes and differentiating MSA-C from SCA3 or SCA6.
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Brouillette, Ashley M., Gülin Öz, and Christopher M. Gomez. "Cerebrospinal Fluid Biomarkers in Spinocerebellar Ataxia: A Pilot Study." Disease Markers 2015 (2015): 1–6. http://dx.doi.org/10.1155/2015/413098.
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Neurodegenerative diseases, including the spinocerebellar ataxias (SCA), would benefit from the identification of reliable biomarkers that could serve as disease subtype-specific and stage-specific indicators for the development and monitoring of treatments. We analyzed the cerebrospinal fluid (CSF) level of tau,α-synuclein, DJ-1, and glial fibrillary acidic protein (GFAP), proteins previously associated with neurodegenerative processes, in patients with the autosomal dominant SCA1, SCA2, and SCA6, and the sporadic disease multiple system atrophy, cerebellar type (MSA-C), compared with age-matched controls. We estimated disease severity using the Scale for the Assessment and Rating of Ataxia (SARA). Most proteins measured trended higher in disease versus control group yet did not reach statistical significance. We found the levels of tau in both SCA2 and MSA-C patients were significantly higher than control. We found thatα-synuclein levels were lower with higher SARA scores in SCA1 and tau levels were higher with greater SARA in MSA-C, although this final correlation did not reach statistical significance after post hoc correction. Additional studies with larger sample sizes are needed to improve the power of these studies and validate the use of CSF biomarkers in SCA and MSA-C.
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Tanguy Melac, Audrey, Caterina Mariotti, Antoine Filipovic Pierucci, Paola Giunti, Javier Arpa, Sylvia Boesch, Thomas Klopstock, et al. "Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements." Journal of Neurology, Neurosurgery & Psychiatry 89, no. 6 (December 26, 2017): 559–65. http://dx.doi.org/10.1136/jnnp-2017-316964.
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BackgroundSensitive outcome measures for clinical trials on cerebellar ataxias are lacking. Most cerebellar ataxias progress very slowly and quantitative measurements are required to evaluate cerebellar dysfunction.MethodsWe evaluated two scales for rating cerebellar ataxias: the Composite Cerebellar Functional Severity (CCFS) Scale and Scale for the Assessment and Rating of Ataxia (SARA), in patients with spinocerebellar ataxia (SCA) and controls. We evaluated these scales for different diseases and investigated the factors governing the scores obtained. All patients were recruited prospectively.ResultsThere were 383 patients with Friedreich’s ataxia (FRDA), 205 patients with SCA and 168 controls. In FRDA, 31% of the variance of cerebellar signs with the CCFS and 41% of that with SARA were explained by disease duration, age at onset and the shorter abnormal repeat in the FXN gene. Increases in CCFS and SARA scores per year were lower for FRDA than for SCA (CCFS index: 0.123±0.123 per year vs 0.163±0.179, P<0.001; SARA index: 1.5±1.2 vs 1.7±1.7, P<0.001), indicating slower cerebellar dysfunction indexes for FRDA than for SCA. Patients with SCA2 had higher CCFS scores than patients with SCA1 and SCA3, but similar SARA scores.ConclusionsCerebellar dysfunction, as measured with the CCFS and SARA scales, was more severe in FRDA than in patients with SCA, but with lower progression indexes, within the limits of these types of indexes. Ceiling effects may occur at late stages, for both scales. The CCFS scale is rater-independent and could be used in a multicentre context, as it is simple, rapid and fully automated.Trial registration numberClinicalTrials.gov: NCT02069509.
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Morodomi, Yosuke, Roberto Aiolfi, Eric Won, Sachiko Kanaji, Paul Schimmel, Zaverio M. Ruggeri, and Taisuke Kanaji. "Sca-1 As a Marker of Stress-Induced Thrombopoiesis in Mice." Blood 134, Supplement_1 (November 13, 2019): 1068. http://dx.doi.org/10.1182/blood-2019-127446.
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Introduction: It has been shown that megakaryocytes (MKs) can develop from a subset of MK-biased hematopoietic stem cells (HSCs). We also demonstrated that an active form of tyrosyl tRNA synthetase (YRS) has ex-translational activities that stimulate rapid platelet production in thrombocytopenic mice. Remarkably, YRS stimulates the development of MKs expressing the stem cell marker, Sca-1, and the monocyte/macrophage marker, F4/80. Thus, we hypothesized that YRS treatment mimics stress-induced megakaryopoiesis and Sca-1 may be a marker for MKs/platelets derived from MK-biased HSCs under inflammatory stress conditions. Accordingly, YRS does not induce Sca-1+ MKs in type I interferon (IFN-I) receptor knockout mice, suggesting a role of IFNs in the induction of Sca1+ MKs. Methods: We used a transgenic mouse strain expressing EGFP under the transcriptional regulatory elements of the Sca-1 gene (Sca-1-EGFP Tg) as a sensitive marker of Sca-1+ MKs. To compare transcriptional profiles, we sorted from mouse bone marrow (BM) EGFP+F4/80+CD41+mGPIbα+ and EGFP-F4/80-CD41+mGPIbα+ cells - representing Sca-1+ MKs and Sca-1- (conventional) MKs, respectively - and performed RNA-Seq analysis. To investigate the mechanism of Sca-1+ MK induction, mouse BM cells were treated with a synthetic TLR7 agonist and MKs were analyzed by flow cytometry. To elucidate the role of Sca-1+ MKs in thrombopoiesis, we infected Sca-1-EGFP Tg mice with lymphocytic choriomeningitis virus (LCMV) Armstrong strain, and analyzed the percentage of EGFP+ platelets and expression of IFN-stimulated genes. Results: We found that expression of MK-specific mRNAs is ~10-fold higher in Sca1+ than Sca1- MKs. As shown in Figure 1A, Sca1+ MKs highly expressed myeloid-related genes (Mpo, Elane, and Ctsg) and stem cell-related genes (Cd34 and Kit); in contrast, Sca1- MKs highly expressed erythroid lineage genes, consistent with origin from a common megakaryocyte-erythroid progenitor (MEP). Expression of IFN-stimulated genes, such as Ifitm1/2/3, is upregulated in Sca-1+ MKs, suggesting the involvement of IFN-I signaling in Sca-1+ MK induction. TLR7 typically recognizes single-stranded viral RNA and stimulates IFN-I production. When Sca-1-EGFP Tg BM cells were cultured in the presence of Gardiquimoid (1 µg/ml), a synthetic TLR7 agonist, Sca1- MKs were reduced and Sca1+ MKs were markedly increased compared to control vehicle treatment (9442 ± 1465 vs 4201 ± 1100). Notably, the proportion of high-ploidy cells was greater in Sca1+ thanSca1- MKs. Moreover, when Sca-1-EGFP Tg mice were infected with LCMV, which cause IFN-I-dependent thrombocytopenia, the percentage of EGFP+ platelets was markedly increased on day 3 (40.0 ± 3.7%) and peaked at day 7 (89.2 ± 5.4%) post-infection as compared to before (3.0 ± 1.0%) (Figure 1B), with 100-fold increase in the EGFP mean fluorescence intensity. Expression of Ifitm3 in platelets was also increased at day 10 post-infection. These results are consistent with our original hypothesis that YRS mimics inflammatory stress conditions and Sca1+ MKs are induced as a consequence of TLRs activation and IFN-I signaling. Conclusions: Our findings indicate that TLR7 activation and IFN-I signaling shift MK generation from Sca-1- to Sca-1+ progenitors, which rapidly develop to high-ploidy Sca-1+ MKs that may accelerate recovery from thrombocytopenia. Accordingly, under inflammatory stress conditions, such as viral infection, the majority of circulating platelets originate was from Sca-1+ MKs. The high expression of Ifitm proteins, which are known to inhibit cellular entry by viruses, in Sca-1+ MKs/platelets may contribute to their role in host defense. Disclosures Aiolfi: MERU-VasImmune, Inc: Other: Stock option. Kanaji:MERU-VasImmune, Inc: Other: Stock option. Schimmel:aTyr Pharma: Consultancy, Equity Ownership, Patents & Royalties. Ruggeri:MERU-VasImmune Inc.: Equity Ownership, Other: CEO and Founder. Kanaji:MERU-VasImmune, Inc: Other: Stock option.
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Mglinets, A. V., V. S. Bogdanova, and O. E. Kosterin. "Identification of the gene coding for seed cotyledon albumin SCA in the pea (Pisum L.) genome." Vavilov Journal of Genetics and Breeding 26, no. 4 (July 7, 2022): 359–64. http://dx.doi.org/10.18699/vjgb-22-43.
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Albumins SCA and SAA are short, highly hydrophilic proteins accumulated in large quantities in the cotyledons and seed axes, respectively, of a dry pea (Pisum sativum L.) seed. SCA was earlier shown to have two allelic variants differing in mobility in polyacrylamide gel electrophoresis in acid medium. Using them, the corresponding gene SCA was mapped on Linkage Group V. This protein was used as a useful genetic and phylogeographical marker, which still required electrophoretic analysis of the protein while the DNA sequence of the corresponding SCA gene remained unknown. Based on the length, the positive charge under acidic conditions and the number of lysine residues of SCA and SAA albumins, estimated earlier electrophoretically, the data available in public databases were searched for candidates for the SCA gene among coding sequences residing in the region of the pea genome which, taking into account the synteny of the pea and Medicago truncatula genomes, corresponds to the map position of SCA. Then we sequenced them in a number of pea accessions. Concordance of the earlier electrophoretic data and sequence variation indicated the sequence Psat0s797g0160 of the reference pea genome to be the SCA gene. The sequence Psat0s797g0240 could encode a minor related albumin SA-a2, while a candidate gene for albumin SAA is still missing (as well as electrophoretic variation of both latter albumins). DNA amplification using original primers SCA1_3f and SCA1_3r from genomic DNA and restriction by endonuclease HindII made it possible to distinguish the SCA alleles coding for protein products with different charges without sequencing the gene. Thus, the gene encoding the highly hydrophilic albumin SCA accumulated in pea seeds, the alleles of which are useful for classification of pea wild relatives, has now been identified in the pea genome and a convenient CAPS marker has been developed on its basis.
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Necira, Hakima, Mohamed Elhadi Matallah, Soumia Bouzaher, Waqas Ahmed Mahar, and Atef Ahriz. "Effect of Street Asymmetry, Albedo, and Shading on Pedestrian Outdoor Thermal Comfort in Hot Desert Climates." Sustainability 16, no. 3 (February 2, 2024): 1291. http://dx.doi.org/10.3390/su16031291.
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Improving urban walkability in the face of climate change is a critical challenge for urban designers. Street design strategies can mitigate heat stress and enhance pedestrian livability. Most previous studies conducted in hot climates recommend adopting deep canyons to improve summer conditions, overlooking the potential improvement of wide streets as essential structural elements of the urban fabric. This study was conducted in Biskra city, southern Algeria, where several mitigation strategies were applied to ‘Emir Abdelkader Boulevard’, as the main structural street inside the city, to create an optimal street model for arid climates. Five scenarios were developed based on three criteria: (Sc1) asymmetric profile northeast side (NES) > southwest side (SWS); (Sc2) asymmetric profile SWS > NES; (Sc3) cool paving; (Sc4) horizontal shading; and(Sc5) shading with a linear tree arrangement. ENVI-met software version 5.1.1 and the RayMan model were used to estimate the local climate conditions and outdoor thermal comfort levels based on the physiological equivalent temperature (PET). All scenarios reduced PET values across the street, with optimal reductions of −2.0 °C, −3.1 °C, −1.3 °C, −1.7 °C, and −1.2 °C in Sc1, Sc2, Sc3, Sc4, and Sc5, respectively. Concerning pedestrian areas, the optimal results durations were at the southwest side below the arcades’ sidewalks during peak hours: Sc2, Sc3, Sc4, Sc5 (2.2 °C–3 H, 2.3 °C–3 H, 2.4 °C–3 H, 2.5 °C–2 H). Sc1 performed best during daytime hours on the northeast side. The utilizing of these results can strongly help urban planners and landscape architects in creating climate-responsive streets that enhance citizens’ quality of life.
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Nardacchione, A., E. Dragone, L. Orsi, P. Mortara, A. Franco, E. Pavanelli, E. Grosso, G. Matullo, A. Carbonara, and G. Restagno. "Spinocerebellar ataxias: analysis of CAG expansions at SCA1, SCA 2, SCA 3, and SCA 6 loci in Italian families." Neuromuscular Disorders 7, no. 6-7 (September 1997): 469. http://dx.doi.org/10.1016/s0960-8966(97)87332-4.
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Fareed, Jawed, Debra Hoppensteadt, Martin Emanuele, Daneyal Syed, Abro Schuharazad, Walter Jeske, and Rakesh Wahi. "Procoagulant Actions of Circulating Microparticles in Sickle Cell Anemia and Sepsis Associated Coagulopathy and Their Modulation By a Triblock Polymer MST 188." Blood 124, no. 21 (December 6, 2014): 2816. http://dx.doi.org/10.1182/blood.v124.21.2816.2816.
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Abstract Introduction: Circulating microparticles (MPs) represent vesicles and cellular fragments of less than 1um which are generated in microvascular angiopathic conditions in both sickle cell anemia (SCA) and sepsis associated coagulopathy (SAC). MPs mediate pro-coagulant actions via the expression of their surface phospholipids and tissue factor. In SCA, MPS are mainly of erythrocytic origin generated during hemolysis and contribute to thrombin generation. In SAC, MPs are generated through the fragmentation of both blood and endothelial cells and contribute to thrombogenic and inflammatory responses. MST-188 is a triblock polymer with affinity to hydrophobic surfaces which are generated in microangiopathic conditions and may also interact with the phospholipid component of MPs. To test the hypothesis that MST-188 may decrease the pro-coagulant effects of MPs, a functional method to access MPs levels and a thrombin generation assay was used. Materials & Methods: Citrated and EDTA anticoagulated whole blood samples (N =10 -15) were collected from healthy normal individuals, SCA patients and confirmed SAC patients. Individual aliquots of these samples were supplemented with saline and MST 188 at a concentration range of 0.1-10mg/ml. After 30mins of incubation these mixtures were centrifuged at 2,500g and plasma was retrieved and frozen. These samples were analyzed for functional microparticle levels using an annexin binding/chromogenic substrate based method for microparticle mediated thrombin generation (Hyphen Biomedical Paris France). The results are expressed in terms of nM of microparticles present. The same samples were also evaluated for thrombin generation using a commercially available flurometric method (Technoclone Vienna Austria). The results are compiled in the total amount thrombin generated and thrombokinetic profile. Results: In comparison to normal (16.3 ±4.2 nm), the MPs levels were significantly higher in the SCA (34.2±8.4 nm) and SAC patients (22.6±9.1 nm). The functional level of MPs was markedly reduced in the MST 1-88 supplemented normal (9.3 ± 1.6 nm), SCA (18.1± 4.6 nm) and SAC (14.6 ± 3.1 nm). This decrease ranged from 36-48%. In the thrombin generation assays in contrast to normal (250±38 nm) SCA patients (348±58 nM) and is SAC patient’s plasma (368±71 nm) generated higher levels of thrombin. Supplementation of MST 1-88 resulted in significant decrease in thrombin generation in normal (110±14 nm), SCA patient’s plasma (160±21 nm) and SAC patient’s (168±26 nm) groups. The decrease in thrombin generation ranged from 24-55%. These results show that both the microparticle facilitated and tissue factor mediated generation of thrombin is decreased by supplementing MST 1-88. Discussion: Both SCA and SAC are associated with vaso-occlusive complications due to the deposition of fibrin in the microvasculture resulting in the generation of microparticles from cellular deformation and damage. The microparticles further augment thrombogenesis and contribute to vascular complications in SCA and SAC. In this study, both SCA and SAC groups exhibited higher levels of microparticles compared to normals. Supplementation of MST 188 to both groups of blood samples resulted in a marked decrease of functioning microparticles and thrombin generation. This may be due to the interaction of MST 188 with hydrophobic moieties of the microparticles. . Disclosures Emanuele: Mast Therapeutics: Employment.
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Kakraliya, Suresh K., Hanuman S. Jat, Tek B. Sapkota, Ishwar Singh, Manish Kakraliya, Manoj K. Gora, Parbodh C. Sharma, and Mangi L. Jat. "Effect of Climate-Smart Agriculture Practices on Climate Change Adaptation, Greenhouse Gas Mitigation and Economic Efficiency of Rice-Wheat System in India." Agriculture 11, no. 12 (December 14, 2021): 1269. http://dx.doi.org/10.3390/agriculture11121269.
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Conventional rice–wheat (RW) rotation in the Indo-Gangetic Plains (IGP) of South Asia is tillage, water, energy, and capital intensive. Coupled with these, crop residue burning contributes significantly to greenhouse gas (GHG) emission and environmental pollution. So, to evaluate the GHG mitigation potential of various climate-smart agricultural practices (CSAPs), an on-farm research trial was conducted during 2014–2017 in Karnal, India. Six management scenarios (portfolios of practices), namely, Sc1—business as usual (BAU)/conventional tillage (CT) without residue, Sc2—CT with residue, Sc3—reduced tillage (RT) with residue + recommended dose of fertilizer (RDF), Sc4—RT/zero tillage (ZT) with residue + RDF, Sc5—ZT with residue + RDF + GreenSeeker + Tensiometer, and Sc6—Sc5 + nutrient-expert tool, were included. The global warming potential (GWP) of the RW system under CSAPs (Sc4, Sc5, and Sc6) and the improved BAU (Sc2 and Sc3) were 33–40% and 4–26% lower than BAU (7653 kg CO2 eq./ha/year), respectively. This reflects that CSAPs have the potential to mitigate GWP by ~387 metric tons (Mt) CO2 eq./year from the 13.5 Mha RW system of South Asia. Lower GWP under CSAPs resulted in 36–44% lower emission intensity (383 kg CO2 eq./Mg/year) compared to BAU (642 kg CO2 eq./Mg/year). Meanwhile, the N-factor productivity and eco-efficiency of the RW system under CSAPs were 32–57% and 70–105% higher than BAU, respectively, which reflects that CSAPs are more economically and environmentally sustainable than BAU. The wheat yield obtained under various CSAPs was 0.62 Mg/ha and 0.84 Mg/ha higher than BAU during normal and bad years (extreme weather events), respectively. Thus, it is evident that CSAPs can cope better with climatic extremes than BAU. Therefore, a portfolio of CSAPs should be promoted in RW belts for more adaptation and climate change mitigation.
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Jat, Hanuman S., Madhu Choudhary, Suresh K. Kakraliya, Manoj K. Gora, Manish Kakraliya, Vikas Kumar, Priyanka, et al. "A Decade of Climate-Smart Agriculture in Major Agri-Food Systems: Earthworm Abundance and Soil Physico-Biochemical Properties." Agronomy 12, no. 3 (March 9, 2022): 658. http://dx.doi.org/10.3390/agronomy12030658.
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Earthworms (EWs) could be a viable indicator of soil biology and agri-food system management. The influence of climate-smart agriculture (CSA)-based sustainable intensification practices (zero tillage, crop rotations, crop residue retention, and precision water and nutrients application) on earthworms’ (EWs) populations and soil physico-biochemical properties of rice-wheat cropping system in the Indo-Gangetic plains of South Asia was investigated. This study investigates the effect of 10-years adoption of various CSA practices on the abundance of earthworms and physical and biochemical properties of the soil and EWs’ casts (EWC). Five scenarios (Sc) were included: conventionally managed rice-wheat system (farmers’ practices, Sc1), CSA-based rice-wheat-mungbean system with flood irrigation (FI) (Sc2) and subsurface drip irrigation (SDI) (Sc3), CSA-based maize-wheat-mungbean system with FI (Sc4), and SDI (Sc5). Results revealed that EWs were absent under Sc1, while the 10-year adoption of CSA-based scenarios (mean of Sc2–5) increased EWs’ density and biomass to be 257.7 no. m−2 and 36.05 g m−2, respectively. CSA-based maize scenarios (Sc4 and Sc5) attained higher EWs’ density and biomass over rice-based CSA scenarios (Sc2 and Sc4). Also, SDI-based scenarios (Sc3 and Sc5) recorded higher EWs’ density and biomass over FI (Sc2 and Sc4). Maize-based CSA with SDI recorded the highest EWs’ density and EWs’ biomass. The higher total organic carbon in EWC (1.91%) than in the bulk soil of CSA-based scenarios (0.98%) and farmers’ practices (0.65%) suggests the shift of crop residue to a stable SOC (in EWC). EWC contained significant amounts of C and available NPK under CSA practices, which were nil under Sc1. All CSA-based scenarios attained higher enzymes activities over Sc1. CSA-based scenarios, in particular, maize-based scenarios using SDI, improved EWs’ proliferation, SOC, and nutrients storage (in soil and EWC) and showed a better choice for the IGP farmers with respect to C sequestration, soil quality, and nutrient availability.
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Albuquerque, Marcus Vinicius Cristino de, José Luiz Pedroso, Pedro Braga Neto, and Orlando Graziani Povoas Barsottini. "Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias." Arquivos de Neuro-Psiquiatria 73, no. 1 (January 2015): 18–21. http://dx.doi.org/10.1590/0004-282x20140192.
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The spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG repeat expansion and includes cerebellar signs associated with visual loss and ophthalmoplegia. Marked anticipation and dynamic mutation is observed in SCA7. Moreover, phenotype variability and very early onset of symptoms may occur. In this article, a large series of Brazilian patients with different SCA subtypes was evaluated, and we compared the age of onset of SCA7 with other SCA. From the 26 patients with SCA7, 4 manifested their symptoms before 10-year-old. Also, occasionally the parents may have the onset of symptoms after their children. In conclusion, our study highlights the genetic anticipation phenomenon that occurs in SCA7 families. Patients with very early onset ataxia in the context of a remarkable family history, must be considered and tested for SCA7.
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Khwaja, Geeta Anjum, Abhilekh Srivastava, Vijay Vishwanath Ghuge, and Neera Chaudhry. "Writer’s cramp in spinocerebellar ataxia Type 1." Journal of Neurosciences in Rural Practice 7, no. 04 (April 2016): 584–86. http://dx.doi.org/10.4103/0976-3147.186980.
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ABSTRACTDystonia can be encountered in a small subset of patients with spinocerebellar ataxia (SCA), but task specific dystonia is extremely rare. We report a case of a 48-year-old male with confirmed SCA Type 1 (SCA1) with mild progressive cerebellar ataxia and a prominent and disabling Writer’s cramp. This case highlights the ever-expanding phenotypic heterogeneity of the SCA’s in general and SCA1 in particular.
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Riess, Olaf, Franco A. Laccone, Suzana Gispert, Ludger Schöls, Christine Zühlke, Ana Maria Menezes Vieira-Saecker, Susanne Herlt, et al. "SCA2 trinucleotide expansion in German SCA patients." neurogenetics 1, no. 1 (May 1, 1997): 59–64. http://dx.doi.org/10.1007/s100480050009.
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Kumar, Arun, Kulvir Singh Saini, Hemant Dasila, Rakesh Kumar, Kavita Devi, Yashpal Singh Bisht, Manish Yadav, et al. "Sustainable Intensification of Cropping Systems under Conservation Agriculture Practices: Impact on Yield, Productivity and Profitability of Wheat." Sustainability 15, no. 9 (May 1, 2023): 7468. http://dx.doi.org/10.3390/su15097468.
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The continuous rice–wheat cropping system in South Asia has caused irreversible environmental damage, raising concerns about the long-term sustainability of the region’s agricultural systems. To address this issue, farm experiments were conducted for two successive years (2019–20 and 2020–21) to assess the impact of different cropping systems under conservation agriculture (CA) practices on the yield, productivity, and profitability of wheat. Results showed that the highest grain yield of wheat was observed in scenarios Sc6, Sc4, and Sc2, which involved full CA permanent-bed soybean (PB)–permanent-bed wheat (PB)–permanent-bed summer moong (PB), full CA permanent-bed maize (PB)–permanent-bed wheat (PB)–permanent-bed summer moong (PB), and partial CA puddled transplanted rice–Happy Seeder wheat–zero-till summer moong (ZT). Additionally, the highest irrigation water productivity (IWP), wheat grain macronutrient uptake, net return, and benefit–cost ratio (B:C ratio) were recorded under Sc6, full CA permanent-bed soybean (PB)–permanent-bed wheat (PB)–permanent-bed summer moong (PB) compared to farmers’ practice puddled transplanted rice (PTR)–conventional-till wheat–summer moong (Sc1) during both years. The system productivity also increased in scenarios Sc2, Sc4, and Sc6 (by 9.72%, 9.65%, and 14.14% in the first year and 10.68%, 14.14%, and 15.55% in the second year) compared to Sc1—farmers’ practice puddled transplanted rice (PTR)–conventional-till wheat–summer moong, Sc3—farmers’ practice fresh-bed maize (FB)–conventional-till wheat–summer moong, and Sc5–farmers’ practice fresh-bed soybean (FB)–conventional-till wheat (CT)–summer moong. The findings suggest that the conservation agriculture soybean–wheat–summer moong (Sc6) on permanent-bed cropping systems with inclusion legumes can be a potential option to enhance yield attributes, productivity, and profitability, as well as the sustainability of natural resources in the region while decreasing environmental footprints.
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Phommavongsa, Sakkouna, Anh Nguyen Phan Hoang, and Manh Vu Quang. "Study on the natural habitats of the giant water bug Lethocerus indicus (Lepeletier et Seville, 1775) (Hemiptera : Belostomatidae) contributing to sustainable management of this rare water insect named in the Red Data Book of Vietnam." Journal of Science Natural Science 66, no. 4F (November 2021): 128–36. http://dx.doi.org/10.18173/2354-1059.2021-0075.
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The study was focused on the natural habitats and distribution of the giant water bug Lethocerus indicus in Lao PDR, with the aims to conserve and breed this rare water insect. The following conclusions were given: Adult giant water bugs were distributed in 5 main natural habitat types, including SC1. Habitat with flowing water such as rivers, streams and canals; SC2. Habitat type with standing or less flowing water such as ponds, lakes and lagoons; SC3. Habitat types such as water rice fields or aquatic plants; SC4. Habitat of standing water or puddles on the edge or inside the rice field; and SC5; and other Habitats include terrestrial, drifting with water, hiding in earthen caves near aquatic habitats. The number of adult giant water bugs decreased in the order of natural habitats studied, as follows SC3 >SC4 >SC2 >SC5 >SC1. The weter rice fields were the most suitable habitat for adult giant water bug. Research results showed that, there are similarities in the distribution of adult male and female in the studied natural habitats. The ratio of adult male to female giant water bug found in the above five studied natural habitats was 1.0 versus 2.3, respectively.
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Milne, W. M. "Comparative performance of spotted clover aphid and spotted alfalfa aphid on annual medic cultivars." Australian Journal of Experimental Agriculture 38, no. 3 (1998): 247. http://dx.doi.org/10.1071/ea97157.
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Summary Twenty-three annual medic cultivars, hybrids and accessions were tested for their suitability as hosts of 2 genetically different biotypes of Therioaphis trifolii (Monell) [spotted alfalfa aphid (SAA) and spotted clover aphid (SCA)] which occur in Australia. Aphids were reared on excised trifoliate leaves on agar containing a soluble fertiliser. Parameters measured were initial host acceptance by adult aphids, mortality of 1st generation nymphs, developmental time of apterous aphids, incidence of alate adults, and 4-day fecundity of apterous adults. Host suitability indices were calculated for the 2 biotypes on each of the accessions. Spotted clover aphid clearly outperformed SAA on the majority of the medics tested. It accepted most host plants more readily, and SCA nymphs nearly always developed more rapidly, suffered lower mortality and produced fewer alatae than those of SAA. A number of cultivars which had been bred for resistance to SAA proved to be highly unsuitable hosts for SAA but relatively suitable hosts for SCA. Spotted clover aphid has the potential to be a serious pest on susceptible medics, and to be able to survive on resistant cultivars until more favoured pasture legumes become available.
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Black, Eric. "Intensive Outpatient Treatment of Depression in a Spinocerebellar Ataxia Type 1 Patient." Case Reports in Psychiatry 2019 (February 11, 2019): 1–3. http://dx.doi.org/10.1155/2019/9186797.
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Objective. Spinocerebellar ataxia type 1 (SCA1) is but one subtype of spinocerebellar ataxia (SCA), each of which can possibly be considered a separate neurological condition (N. Whaley, S. Fujioka, Z. K. Wszolek, 2011). SCA is hereditary, progressive, and degenerative. SCA1 symptoms initially include coordination problems and ataxia. SCA1 can also include speech and swallowing difficulties, spasticity, ophthalmoplegia, cognitive difficulties, and even sensory neuropathy, dystonia, atrophy, and fasciculations. Literature has established that depressive symptoms can be exhibited with spinocerebellar ataxia patients regardless of type (T. Schmitz-Hübsch, 2011). While a higher risk for depression occurs with more severe SCA disease, successful treatment to mitigate symptoms has been documented (N. Okamoto, M. Ogawa, Y. Murata, et al., 2010). In this case a SCA1 patient with advanced neurological disease was enrolled in a psychiatric intensive outpatient (IOP) treatment program in the midwestern United States to address his comorbid depressive symptoms. This treatment option allowed a less restrictive environment while providing a more structured therapeutic setting and social support for the patient, much more so than that which is typically offered in a traditional outpatient setting. Case Report. A patient with relatively advanced SCA1 successfully participated in a psychiatric IOP program or depressive symptoms and benefitted from the program’s structure and additional psychosocial support. Conclusion. Awareness among physicians, particularly psychiatrists and neurologists, regarding IOP programs as a treatment option for comorbid depression in the clinical setting of progressive SCA or other neurological conditions can be beneficial to patients requiring an increased level of psychiatric treatment.
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Rodrigues, Guilherme Riccioppo, Ruth H. Walker, Benedikt Bader, Adrian Danek, Alexis Brice, Cécile Cazeneuve, Odile Russaouen, Iscia Lopes-Cendes, Wilson Marques Jr., and Vitor Tumas. "Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype." Arquivos de Neuro-Psiquiatria 69, no. 3 (June 2011): 419–23. http://dx.doi.org/10.1590/s0004-282x2011000400002.
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Huntington's disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical HD phenotype without the expected mutation. The objective of this study was to assess the occurrence of diseases such as Huntington's disease-like 2 (HDL2), spinocerebellar ataxia (SCA) 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and chorea-acanthocytosis (ChAc) among 29 Brazilian patients with a HD-like phenotype. In the group analyzed, we found 3 patients with HDL2 and 2 patients with ChAc. The diagnosis was not reached in 79.3% of the patients. HDL2 was the main cause of the HD-like phenotype in the group analyzed, and is attributable to the African ancestry of this population. However, the etiology of the disease remains undetermined in the majority of the HD negative patients with HD-like phenotype.
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Durvaux, François, and Marc Durvaux. "SCA-Pitaya." Digital Threats: Research and Practice 1, no. 1 (March 16, 2020): 1–16. http://dx.doi.org/10.1145/3371393.
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Teive, Hélio A. G., Renato Puppi Munhoz, Salmo Raskin, and Lineu César Werneck. "Spinocerebellar ataxia type 6 in Brazil." Arquivos de Neuro-Psiquiatria 66, no. 3b (2008): 691–94. http://dx.doi.org/10.1590/s0004-282x2008000500015.
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Spinocerebellar ataxia type 6 (SCA 6) is an autosomal dominant cerebellar ataxia caused by CAG repeat expansion in the SCA6 gene, a alpha 1A voltage-dependent calcium channel subunit gene on chromosome 19p13. SCA-6 is characterized predominantly by slowly progressive pure cerebellar ataxia with late onset. We report three index patients, with pure, late onset, cerebellar ataxia, belonging to three different Brazilian families, all of them with Japanese ancestry, from Hokkaido island of Japan.
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Abramovskikh, L. E., P. I. Pilipenko, M. I. Voevoda, and Yu V. Maksimova. "Epidemiological features of the distribution of hereditary cerebellar ataxia." Journal of Siberian Medical Sciences 7, no. 3 (2023): 132–44. http://dx.doi.org/10.31549/2542-1174-2023-7-3-132-144.
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Hereditary cerebellar ataxias (HCA) is a heterogeneous group of genetic neurological neurodegenerative diseases with a steadily progressive course. Ataxia is manifested by disturbed equilibrium, speech. Diseases of this group, as a rule, lead to disability of the patient. Advances in the field of molecular genetic research have made it possible to determine the form of HCA in accordance with the type of inheritance, and on this basis a classification of HCA has been formed. Monogenic (autosomal dominant, autosomal recessive, X-linked) and non-traditional types of inheritance of cerebellar ataxias (mitochondrial, expansion of trinucleotide repeats) are distinguished, sporadic forms with an unidentified or unknown type of transmission are also distinguished. Thus, HCA are classified into autosomal dominant spinocerebellar ataxias (SCA), they include 48 forms, some of which are polyglutamine SCA, and autosomal recessive, about 100 nosological entities. In addition, episodic cerebellar ataxia is also classified as an autosomal dominant ataxia. Among autosomal dominant ataxias, SCA3 or Machado-Joseph disease is the most common, followed by SCA2 and SCA6. However, in Russia, the prevalence is different. Among autosomal recessive ataxias, the most common is Friedreich’s ataxia, which also belongs to polyglutamine diseases. It should be taken into account that different methodological approaches lead to great heterogeneity and scattering of results in determining the prevalence of one or another form of hereditary ataxia both within the country and among the countries. The review presents current data on the prevalence of various forms of HCA in different regions of the world and populations. However, there is still a great deal of uncertainty regarding the overall prevalence of certain hereditary forms of cerebellar ataxia.
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Baumann, Christina I., Alexis S. Bailey, Weiming Li, Michael J. Ferkowicz, Mervin C. Yoder, and William H. Fleming. "PECAM-1 is expressed on hematopoietic stem cells throughout ontogeny and identifies a population of erythroid progenitors." Blood 104, no. 4 (August 15, 2004): 1010–16. http://dx.doi.org/10.1182/blood-2004-03-0989.
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AbstractPlatelet endothelial cell adhesion molecule-1 (PECAM-1) (CD31) is an adhesion molecule expressed on endothelial cells and subsets of leukocytes. Analysis of phenotypically defined hematopoietic stem cells (HSCs) from the yolk sac, fetal liver, and adult bone marrow demonstrates CD31 expression on these cells throughout development. CD31+ c-kit+ cells, but not CD31– c-kit+ cells, isolated from day-9.5 yolk sac give rise to multilineage hematopoiesis in vivo. Further evaluation of the CD31+ lineage marker–negative fraction of adult bone marrow reveals functionally distinct cell subsets. Transplantation of CD31+ Lin– c-kit– cells fails to protect lethally irradiated recipients, while CD31+ Lin– c-kit+ Sca-1– cells (CD31+ Sca-1–) provide radioprotection in the absence of long-term donor-derived hematopoiesis. Although donor-derived leukocytes were not detected in CD31+ Sca-1– recipients, donor-derived erythroid cells were transiently produced during the initial phases of bone marrow recovery. These results demonstrate CD31 expression on hematopoietic stem cells throughout ontogeny and identify a population of CD31+ short-term erythroid progenitors cells that confer protection from lethal doses of radiation.
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Jou, C. Jerry, Jay P. Farber, Chao Qin, and Robert D. Foreman. "Afferent pathways for cardiac-somatic motor reflexes in rats." American Journal of Physiology-Regulatory, Integrative and Comparative Physiology 281, no. 6 (December 1, 2001): R2096—R2102. http://dx.doi.org/10.1152/ajpregu.2001.281.6.r2096.
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The present study used a rat model in which algogenic chemicals were infused into the pericardial sac to evoke spasmlike contractions in paraspinal muscles. The following techniques were used to study the roles of sympathetic (SCA) and vagal cardiac afferents (VCA) in electromyographic (EMG) responses to pericardial algogenic chemicals: chemical stimulation, electrical stimulation, and nerve transection. Activation with bradykinin ( n = 46) produced a significantly higher peak response than infusion of an algogenic mixture ( n = 53) containing chemicals that also activate VCA. Electrical stimulation of SCA produced bilateral EMG activities (7 of 7). Electrical stimulation of VCA did not evoke EMG activity but inhibited the chemically evoked EMG response (12 of 12). The chemically evoked response was decreased after transection of the left sympathetic chain ( n = 22) and was increased after bilateral vagotomy ( n = 19). These results suggest an excitatory and inhibitory role for SCA and VCA, respectively. Therefore, in addition to spinothalamic convergence of somatic and visceral afferents, activation of SCA to generate spasmlike muscle contractions could account in part for anginal pain, and VCA activation could attenuate this effect.
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Irie, Yukino, Koichiro Takemoto, Toshiro Katsuta, Kenji Fukuda, Hiroshi Abe, Mitsutoshi Iwaasa, Toshio Higashi, and Tooru Inoue. "Distal superior cerebellar artery aneurysm located at the newly formed anastomotic site with the long circumferential artery of the posterior cerebral artery: A case report." Interventional Neuroradiology 25, no. 6 (May 16, 2019): 648–52. http://dx.doi.org/10.1177/1591019919850036.
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We describe a case of a distal superior cerebellar artery (SCA) aneurysm that arose from a unique collateral pathway between the SCA and long circumferential artery (LCA) of the posterior cerebral artery (PCA). The patient was a 69-year-old male who was admitted to our facility for an asymptomatic and incidentally identified cerebellar aneurysm. Magnetic resonance imaging showed a saccular aneurysm arising from the right SCA in the quadrigeminal cistern. Digital subtraction angiography revealed an unusually dilated branch from the aneurysmal sac. Furthermore, this branch had retrograde flow from the quadrigeminal segment to the anterior pontomesencephalic segment, was connected to the PCA at the P1 segment, and exited from the P2 segment. We attributed this unusual angioarchitecture to collateral circulation secondary to severe P1 stenosis. Thus, the dilated unusual branch is an LCA of the PCA for supplying the distal PCA with blood flow. As a result, the aneurysm is probably formed at the junction between the SCA and LCA. Endovascular coiling for the aneurysm was successfully performed with preserved collateral system.
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Li, Rui Mei, Rui Jun Duan, Yi Meng Ji, Du Juan Xi, Jiao Liu, Jian Chun Guo, Peng Zhang, and Shao Ping Fu. "Somatic Embryogenesis and Organogenesis of Biofuel Plant Cassava (Manihot esculenta Crantz) Chinese Cultivars." Advanced Materials Research 512-515 (May 2012): 558–61. http://dx.doi.org/10.4028/www.scientific.net/amr.512-515.558.
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2, 4-D and picloram were compared for their ability to the induction of somatic embryogenesis in Chinese cassava (Manihot esculenta Crantz) cultivars SC5, SC6, SC7 and SC8. In all four cultivars tested, both 2, 4-D and picloram had the capacity to induce primary somatic embryos from axillary buds. And the two hormones were also suitable for subculture of somatic embryos of three cultivars SC5, SC6 and SC8. However both 2, 4-D and picloram can not keep the activity of somatic embryos of cultivar SC7. For organogenesis, cotyledon matured for 10~15 days were better than others.
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Kornblau, Steven M., Peter Ruvolo, Rui-Yu Wang, Vivian Ruvolo, Yihua Qiu, Venkata Lokesh Battula, Zhihong Zeng, et al. "Acute Myelogenous Leukemia (AML) Mesenchymal Stromal Cell (MSC) Have Distinct Protein Expression Patterns Compared to Normal MSC." Blood 126, no. 23 (December 3, 2015): 3813. http://dx.doi.org/10.1182/blood.v126.23.3813.3813.
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Abstract Background: AML remains highly fatal, therefore understanding the mechanisms that cause chemoresistance is critical for developing more effective therapies. The leukemia bone marrow microenvironment (BME) and component MSC supports leukemia development and cell survival, implying a key role for MSC in resistance. We hypothesize that differences in the physiology of MSC in the leukemia BME (AML-MSC), relative to normal MSC (NL-MSC), exist and could be therapeutic targets. Methods: To compare the function of AML-MSC from NL-MSC a custom reverse phase protein array (RPPA) was made using cultured MSC from AML (N = 106) and healthy donor MSC (NL; N = 71) and probed with 151 antibodies against 114 total, 36 phospho sites (on 29 proteins) and 1 cleavage site. Both biased clustering and unbiased hierarchical clustering along with principal component analysis were used to analyze data. To examine the influence of age on protein expression, age matched AML and NL MSC were compared. Results: Comparison of protein expression in NL-MSC and AML-MSC identified 5 Sample Clusters (SC1..SC5) based on the differential expression of 83 of 151 proteins, which formed 5 Protein Clusters (PC1..PC5) (P < 0.000001, FDR = 0.0000017)(FIG 1). Distribution of NL-MSC was significantly skewed to SC1 (7 of 8) and SC3 (38 of 52) while AML-MSC dominated SC2 (37 of 45) and SC4 (45 of 59), (Χ2 = 45.3, df=4, P <0.0001). NL-MSC were characterized by low expression of proteins in PC1 and 2 and higher expression within PC 3,4 & 5 with SC1 having more extreme levels than SC3. Protein levels in AML dominant SC4 was opposite of SC1 and SC3 for all 5 PC and was designated as "AML". SC5 was a more extreme version of SC4, for PC2, 4 and 5 but resembled SC3 for PC1 and 3. In contrast, the AML dominant SC2 resembled NL-MSC dominant SC1 and SC3 for PC2, 4 and 5, resembling SC4 only in PC1 and 3. This cluster was designated as "NL-like AML". Proteins with universally higher expression in NL-MSC included: SMADs 1 and 4, STMN1, SIRT1, p-Foxo1/3 (S32), HSP90 and EIF2S1. AML MSC had higher levels of 18 proteins across all groups including CCND1, BCL-XL, STAT5, and PPP2R2A. Salvage cases were more often in SC2 (17 of 36) and SC4 (26 of 45) than in SC3 (3 of 15) (Χ2 = 6.44, df=2, P <0.04). The observed changes were similar within three age groups (<30, 30-49, 50-59) in 22 of 25 universally differentially expressed proteins, demonstrating age independence. MSC cluster membership correlated with cytogenetics: Unfavorable cytogenetics (41 % overall) comprised 30% of NL-Like SC2, 42% of "Normal" SC3 but 52% of "AML" SC4 cases (p= 0.04), and both favorable cytogenetics cases were in SC3. MSC subpopulation type was not associated with overall survival, remission duration, or AML mutation status (FLT3, NPM1, RAS). We confirmed higher differential expression of mRNA (by qRT-PCR) for some (BCL2L1, CCND1) but not all (p21) in 10 AML-MSC and 10 NL-MSC, suggesting that both transcriptional and translational mechanisms are involved. In a separate ASH submission Battula shows that AML-MSC cannot differentiate into adipocytes like NL-MSC. Ingenuity pathway analysis (IPA) of this dataset finds that PC3 members, which are highly expressed in NL-MSC SC1, 3 & 5, but low in AML SC2 & 4, are associated with adipogenesis. Notably PI3K/AKT and JAK/STAT signaling is higher in AML dominant SC4. Hierarchical clustering revealed that 9 proteins showed differential expression between diagnosis and salvage status ( P=0.05) with p-β catenin, p-RPS6, and Galectin 3 higher in salvage samples, while SMAD6, TCF4, LYN, integrin β3, p-EIF4BP1, and p-ELK1 were higher at diagnosis. IPA reveals these proteins are highly associated with osteoblast differentiation, molecular mechanism of cancer and stem cell pluripotency, suggesting potential mechanisms for how alterations in MSC protein expression could affect chemosensitivity. Summary: This study demonstrates that AML-MSC have two dominant protein expression signatures that are distinct from those of NL-MSC, with SC4 being associated with unfavorable cytogenetics and the salvage setting. Up-regulated pathways in AML-MSC are known to impact MSC cell survival and differentiation. Down regulated pathways may explain skewing towards osteogenic and away from adipogenic differentiation by AML-MSC. Experiments targeting MSC and assessing effects on AML blast survival are underway to determine if targeting MSC can reverse chemoresistance. Figure 1. Figure 1. Disclosures Konopleva: Novartis: Research Funding; AbbVie: Research Funding; Stemline: Research Funding; Calithera: Research Funding; Threshold: Research Funding. Andreeff:Oncoceutics, Inc.: Membership on an entity's Board of Directors or advisory committees.
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Iizuka, H., S. Miyachi, T. Ohshima, T. Izumi, A. Tsurumi, and J. Yoshida. "Morphological Study of Aneurysms at the Junction of the Superior Cerebellar Artery." Interventional Neuroradiology 14, no. 3 (September 2008): 259–66. http://dx.doi.org/10.1177/159101990801400306.
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Superior cerebellar artery (SCA) aneurysms sometimes involve the origin of the SCA making treatment difficult. We focused on the morphological characteristics of SCA aneurysms and adjacent vascular structures to apply clinical decision-making for the treatment strategy. Sixty-nine SCA aneurysms, including 34 ruptured and 35 unruptured ones, had been treated for over 12 years. Multiple aneurysms were associated in 30 patients. The pattern of the neck position of aneurysms was classified into three types: Type A: no SCA-involved type; Type B: half involved type with SCA originating from the aneurysmal neck; Type C: pure SCA aneurysm with all the neck mounting on SCA. Morphological and clinical analysis was done between ruptured and unruptured aneurysms and among the three types. There was no difference in patient profile between ruptured and unruptured aneurysms. The angle formed by the posterior cerebral artery and SCA on the aneurysm side was obtuse in 62 (90%) patients. From the morphological point of view the SCA-involved type (types B + C) was significantly more prevalent in ruptured aneurysms (77%). Bleb formation was particular in ruptured aneurysms. As for the treatment, the risk of SCA occlusion and incomplete and attempted operation was particularly high in cases with SCA-involved type. Although SCA aneurysms may grow due to the hemodynamic stress at the opened bifurcation between the PCA and SCA, the neck shifting to the origin of SCA, particularly in ruptured lesions, may suggest some other etiological mechanism. SCA-involved type aneurysms had a high treatment risk of SCA occlusion and tended to incomplete treatment to avoid such ischemic complications.
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Stevanin, G., A. Dürr, G. David, O. Didierjean, G. Cancel, S. Rivaud, A. Tourbah, J. M. Warter, Y. Agid, and A. Brice. "Clinical and molecular features of spinocerebellar ataxia type 6." Neurology 49, no. 5 (November 1997): 1243–46. http://dx.doi.org/10.1212/wnl.49.5.1243.
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The mutation involved in spinocerebellar ataxia type 6 (SCA6) is a small CAG expansion in the alpha-1A subunit of the voltage-dependent calcium channel gene. We looked for this mutation in 91 families with autosomal-dominant cerebellar ataxias and found that SCA6 is a minor locus in our series (2%) and is rare in France (1%). Furthermore, we did not detect the SCA6 mutation on 146 sporadic cases with isolated cerebellar ataxia or olivopontocerebellar atrophy. The normal and expanded alleles ranged from 4 to 15 and 22 to 28 CAG repeats, respectively, and age at onset was correlated to CAG repeat length (r = -0.87). In contrast with other SCA, the expanded allele was stable during transmission. Clinically, SCA6 patients (n = 12) presented with moderate to severe cerebellar ataxia with a lower frequency of associated signs compared with other SCA and a mean age at onset of 45± 14 years (range, 24 to 67). MRI showed extensive cerebellar atrophy but not of the brainstem or cerebral cortex.
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Ndidi, Uche Samuel, Corynne Stephanie Ahouefa Adanho, Rayra Pereira Santiago, Sètondji Cocou Modeste Alexandre Yahouédéhou, Sânzio Silva Santana, Vitor Valério Mafili, Thassila Nogueira Pitanga, et al. "Effect of N(Epsilon)-(carboxymethyl)lysine on Laboratory Parameters and Its Association withβSHaplotype in Children with Sickle Cell Anemia." Disease Markers 2019 (September 15, 2019): 1–8. http://dx.doi.org/10.1155/2019/1580485.
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The present study aimed to investigate the association of Nε-carboxymethyllysine (CML) with laboratory parameters andβShaplotypes in pediatric sickle cell anemia (SCA) patients with or without hydroxyurea (HU) therapy. We included 55 children with SCA (SCAtotal), where 27 were on HU treatment (SCA-HU+) and 28 without HU treatment (SCA-HU-). Laboratory characteristics were determined using electronic methods while CML was measured using competitive ELISA.βShaplotypes were determined by RFLP-PCR. Significant increases in MCV and MCH and significant decreases in leukocytes, eosinophils, basophils, atypical lymphocytes, lymphocytes, and monocytes were found in SCA-HU+compared to SCA-HU-. SCA-HU+presented significant reduction in aspartate transaminase and lactate dehydrogenase and increase in creatinine levels compared to SCA-HU-. CML levels were significantly higher in both SCA-HU+and SCA-HU-compared to the healthy control. In addition, a negative correlation was found between CML and alanine transaminase in SCA-HU+and SCAtotal(p<0.01). A significant association was found between CML levels andβShaplotypes. The results suggest that CML has a role to play in SCA complications, independent of HU therapy.
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Atallah, Atallah A., Osama M. Morsy, Wael Abbas, and El-Sayed G. Khater. "Microstructural, Physicochemical, Microbiological, and Organoleptic Characteristics of Sugar- and Fat-Free Ice Cream from Buffalo Milk." Foods 11, no. 3 (February 8, 2022): 490. http://dx.doi.org/10.3390/foods11030490.
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Ice cream is a popular dessert product across the world. Structure, body, taste, and odor properties are created by adding non-milk ingredients and milk ingredients. The main aim of the study is to decrease the caloric value of ice cream by using sugar and fat replacements. Ice cream treatments were investigated based on microstructural, chemical, physical, microbiological, sensory, and calorific values. Four different ice creams were used (control ice cream (SC1), ice cream with stevia (SC2), ice cream with sucralose (SC3), and ice cream with sorbitol (SC4)). The chemical properties in all treatments of ice cream were significantly recorded (p < 0.05). The highest sucrose and fat levels were detected in the SC1 treatment compared with the other treatments (p < 0.05). The lowest fat and sugar amounts were observed in the SC2, SC3, and SC4 treatments (p < 0.05). The highest viscosity, overrun, and hardness values (p < 0.05) were detected in the control ice cream. Total aerobic mesophilic bacterial counts were not significantly recorded between different ice cream treatments (p < 0.05). The sensory scores were not significantly affected by sweeteners and bulk agents in the different treatments. The highest calorific value was calculated in the SC1 samples (p < 0.05). On the other hand, the lowest calorific value was calculated in SC2, followed by the SC3 and SC4 treatments. In scanning electron microscopy (SEM), the gel exhibited a homogeneous structure with a fine network within the SC2, SC3, and SC4 treatments, as it contained a cohesive structure with small-sized pores.
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Spangrude, G. J., Y. Aihara, I. L. Weissman, and J. Klein. "The stem cell antigens Sca-1 and Sca-2 subdivide thymic and peripheral T lymphocytes into unique subsets." Journal of Immunology 141, no. 11 (December 1, 1988): 3697–707. http://dx.doi.org/10.4049/jimmunol.141.11.3697.
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Abstract Stem cell Ag 1 and 2 (Sca-1 and Sca-2), so named due to their expression by mouse bone marrow stem cells, were evaluated for expression by populations of cells within the thymus. Immunohistochemical analysis demonstrated that Sca-1 was expressed by cells in the thymic medulla and by some subcapsular blast cells, as well as by the thymic blood vessels and capsule. Sca-2 expression, which was limited to the thymic cortex, could be associated with large cycling thymic blast cells. Both Sca-1 and Sca-2 were expressed on a sub-population of CD4-CD8- thymocytes, and this subpopulation was entirely contained within the Ly-1lo progenitor fraction of cells. Sca-1 expression by a phenotypically mature subset of CD4+CD8- thymocytes was also noted. Conversely, Sca-2 expression was observed on a phenotypically immature or nonmature subpopulation of CD4-CD8- thymocytes. MEL-14, an antibody that defines functional expression of a lymphocyte homing molecule, identified a small population of thymocytes that contained all four major thymic subsets. Sca-2 split the MEL-14hi thymocyte subset into two Sca-2+ non-mature/immature phenotype fractions and two Sca-2- mature phenotype fractions. In peripheral lymphoid organs, Sca-1 identified a sub-population of mature T lymphocytes that is predominantly CD4+CD8-, in agreement with the thymic distribution of Sca-1. Peripheral T cells of the CD4-CD8+ phenotype were predominantly Sca-1-. In contrast, Sca-2 did not appear to stain peripheral T lymphocytes, but recognized only a subset of B lymphocytes which could be localized by immunohistochemistry to germinal centers. Thus, expression of Sca-1 is observed throughout T cell ontogeny, whereas Sca-2 is expressed by some subsets of thymocytes, including at least one half of thymic blasts, but not by mature peripheral T lymphocytes.
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Liu, Jinming, Zhongwen Ou, Jinchuan Mo, Yuzhuo Chen, Tong Guo, and Wei Deng. "Effectiveness of Saturated Coral Aggregate and Shrinkage Reducing Admixture on the Autogenous Shrinkage of Ultrahigh Performance Concrete." Advances in Materials Science and Engineering 2017 (2017): 1–11. http://dx.doi.org/10.1155/2017/2703264.
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The use of saturated coral aggregate (SCA) as practical replacement of quartz sand has been shown to effectively mitigate the autogenous shrinkage in ultrahigh performance concrete (UHPC). The autogenous deformation, the compressive strength, the flexural strength, and the hydration property development of paste with different shrinkage means were tested. Three different methods were evaluated to mitigate the autogenous shrinkage: SCA, shrinkage reducing admixture (SRA), and the mixture of SCA and SRA (SRA-SCA). It was found that SCA and SRA have all the effective ways to reduce the shrinkage deformation, and SRA-SCA was the most effective in mitigating the shrinkage. The autogenous shrinkage of UHPC was restrained, when the SCA dosage was 44%, the SRA dosage was 0.8%, the SCA content was 26%, the SRA dosage was 2.4%, the SCA content was 18%, the SRA content was 2.4%, or the SCA dosage was 26%. The mechanical properties were deteriorated by the addition of SCA, while the compressive strength was still higher than 90 MPa at 28 days even though the replacement ratio of SCA was up to 50%. Furthermore, internal curing by means of SCA was proved to be a successful way to mitigate autogenous shrinkage, after the tests.
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Wan, He, Peng Yi, Juanping Qu, Xianzhong Bu, Wei Yang, and Hui Li. "Adsorption Behaviors of Straight-Chain Alkanes on a Molybdenite [001]/[100] Surface: A Molecular Dynamics Study." Minerals 11, no. 5 (May 4, 2021): 489. http://dx.doi.org/10.3390/min11050489.
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Straight-chain alkanes (SCA) as collectors can effectively enhance the floatability of molybdenite. In a previous study, SCA were found to have an excellent adsorption effect on the molybdenite [001] surface (MS001), but they exhibited no adsorption behavior on the molybdenite [100] surface (MS100). However, other studies have shown that SCA could adsorb on MS100. In this paper, the underlying cause of this contradictory conclusion was identified by molecular dynamics simulation. The results show that SCA could adsorb both MS001 and MS100. However, at low SCA dosages, SCA have a strong interaction with MS001 but desorb quickly on MS100. This leads to the selective adsorption of SCA on MS001. As SCA’s concentration gradually increases, the selective adsorption behavior of SCA on MS001 will be disrupted. Excessive SCA concentration will lead to its adsorption at MS100.