Spinocerebellar ataxia 38 (SCA 38) is a very rare autosomal dominant inherited disorder caused by a mutation in ELOV5 gene, specifically expressed in cerebellar Purkinje cells, encoding an enzyme involved in the synthesis of fatty acids. Seven symptomatic SCA 38 patients of a Sardinian family were administered 15 sessions of cerebellar anodal transcranial direct current stimulation (tDCS) in a cross-over study, employing deltoid cerebellar-only (C-tDCS) and cerebello-spinal (CS-tDCS) cathodal montage. Clinical evaluation was performed at baseline (T0), after 15 sessions of tDCS (T1) and after 1 month of follow-up (T2).
View Article and Find Full Text PDFSpinocerebellar ataxia 38 (SCA 38) is a rare autosomal neurological disease whose clinical features include, among others, severe gait disturbances that have not yet been fully characterized. In this study, we employed a computerized 3D gait analysis to obtain spatio-temporal parameters of gait and the kinematics in the sagittal plane in the hip, knee, and ankle joints of seven individuals with SCA 38, which were then compared with those of twenty unaffected individuals matched for age, sex, and anthropometric features. The results show that, in comparison with unaffected individuals, those with SCA 38 are characterized by a significantly reduced speed, stride length, and duration of the swing phase, as well as an increased step width and stance and double support phase durations.
View Article and Find Full Text PDFIn November 2022, 68% of the population received at least one dose of COVID-19 vaccines. Owing to the ongoing mutations, especially for the variants of concern (VOCs), it is important to monitor the humoral immune responses after different vaccination strategies. In this study, we developed a SARS-CoV-2 variant protein microarray that contained the spike proteins from the VOCs, e.
View Article and Find Full Text PDFAntibody-based testing for emtricitabine (FTC), a critical component of pre-exposure prophylaxis and antiretroviral therapy, would provide low-cost detection for clinical monitoring to improve adherence. We developed a mAb (5D2) to FTC and demonstrated its high specificity and physiologically relevant linear range of detection in a competitive enzyme immunoassay. Thus, this mAb is a key reagent that will enable simple and low-cost lateral flow assays and enzyme immunoassays for adherence monitoring.
View Article and Find Full Text PDFThe blackfin tuna, Thunnus atlanticus, is a small tropical tuna exploited by recreational and commercial fisheries in various parts of its range. Information on stock structure is needed to develop management plans for this species but is currently lacking. In this work, 470 blackfin tuna from nine geographic populations were assayed at 13 homologous microsatellite markers to provide a first assessment of stock structure across the species range.
View Article and Find Full Text PDFThe provision of cardiac surgery services nationwide has been affected by the COVID-19 pandemic. We noticed a high COVID-19 mortality rate in unvaccinated patients who were diagnosed with COVID-19 after recent cardiac surgery. All the patients were tested negative for COVID-19 before surgery.
View Article and Find Full Text PDFThe disease progression of COVID-19 varies from mild to severe, even death. However, the link between COVID-19 severities and humoral immune specificities is not clear. Here, we developed a multiplexed spike variant protein microarray (SVPM) and utilized it for quantifying neutralizing activity, drug screening, and profiling humoral immunity.
View Article and Find Full Text PDFThe discontinuation of the United States Medical Licensing Examination Step 2 Clinical Skills Examination emphasizes the need for other reliable standardized assessments of medical student clinical skills. For 30 years, the California Consortium for the Assessment of Clinical Competence (CCACC) has collaborated in the development of clinical skills assessments and has become a valuable resource for clinicians, standardized patient educators, psychometricians, and medical educators. There are many merits to strong multi-institutional partnerships, including the integration of data across multiple schools to provide feedback to both students and curricula, pooled test performance statistics for analysis and quality assurance, shared best practices and resources, individual professional development, and opportunities for research and scholarship.
View Article and Find Full Text PDFSARS-CoV-2 is quickly evolving from wild-type to many variants and spreading around the globe. Since many people have been vaccinated with various types of vaccines, it is crucial to develop a high throughput platform for measuring the antibody responses and surrogate neutralizing activities against multiple SARS-CoV-2 variants. To meet this need, the present study developed a SARS-CoV-2 variant (CoVariant) array which consists of the extracellular domain of spike variants, e.
View Article and Find Full Text PDFMercury (Hg) concentrations have significantly increased in oceans during the last century. This element accumulates in marine fauna and can reach toxic levels. Seafood consumption is the main pathway of methylmercury (MeHg) toxicity in humans.
View Article and Find Full Text PDFWe present a 14-year-old boy with Loey-Dietz syndrome with severe mitral regurgitation, pectus excavatum and scoliosis. The Haller index was 25. The heart was displaced into the left hemithorax.
View Article and Find Full Text PDFBeside oil, oilseed rape () seeds contains nutritional bioactives such as polyphenols and glucosinolates. However, to date their nutritional properties have been overlooked in the new "double zero" breeds. Seed alcoholic extracts from two cultivars most contrasting in their phytochemical contents as measured by mass-spectrometry were given to -mice.
View Article and Find Full Text PDFIntroduction: Preoperative dialysis-dependent renal failure is a strong independent risk factor for in-hospital mortality and morbidity after open heart surgery. This retrospective study analyses the early outcome in dialysis-dependent renal failure patients who underwent elective open-heart surgery in the Institut Jantung Negara (IJN).
Methods: We retrospectively analyse a series of 228 consecutive postoperative patients with dialysis-dependent (end stage renal failure (ESRF)) admitted to the adult cardiothoracic ICU in IJN between January 2012 and December 2016.
Central venous cannulation is a common procedure done for various medical indications. The use of the central venous cannula is associated with various immediate complications such as pneumothorax, vascular injury, and arrhythmia. The following is an unusual case of delayed presentation of a right vertebral artery injury due to central venous cannulation which resulted in a posterior circulation stroke.
View Article and Find Full Text PDFWorld J Otorhinolaryngol Head Neck Surg
June 2017
Objective: Determine if anatomic dimensions of airway structures are associated with airway obstruction in obstructive sleep apnea (OSA) patients.
Methods: Twenty-eight subjects with ( = 14) and without ( = 14) OSA as determined by clinical symptoms and sleep studies; volunteer sample. Skeletal and soft tissue dimensions were measured from radiocephalometry and magnetic resonance imaging.
Background: The female genital tract (FGT) microbiome may affect vaginal pH and other factors that influence drug movement into the vagina. We examined the relationship between the microbiome and antiretroviral concentrations in the FGT.
Methods: Over one menstrual cycle, 20 human immunodeficiency virus (HIV)-infected women virologically suppressed on tenofovir (TFV) disoproxil fumarate/emtricitabine and ritonavir-boosted atazanavir (ATV) underwent serial paired cervicovaginal and plasma sampling for antiretroviral concentrations using high-performance liquid chromatography-tandem mass spectrometry.
Objective: To determine age-based criteria for polycystic ovary morphology.
Design: Cross-sectional, case-control design.
Setting: Outpatient setting.
Genome-wide association studies and replication analyses have identified (n = 5) or replicated (n = 10) DNA variants associated with risk for polycystic ovary syndrome (PCOS) in European women. However, the causal gene and underlying mechanism for PCOS risk at these loci have not been determined. We hypothesized that analysis of phenotype, gene expression and metformin response as a function of genotype would identify candidate genes and pathways that could provide insight into the underlying mechanism for risk at these loci.
View Article and Find Full Text PDFBackground: Pre-exposure prophylaxis (PrEP) with emtricitabine and tenofovir disoproxil fumarate (FTC/TDF) is a novel HIV prevention strategy. Suboptimal PrEP adherence and HIV infection creates an opportunity for continued antiretroviral drug activity during undiagnosed infection. We previously showed that macaques infected with SHIV during PrEP with FTC/TDF display reduced acute plasma viremias and limited virus diversity.
View Article and Find Full Text PDFAims: Variants in genes encoding metformin transport proteins and the ATM gene are associated with metformin response. We hypothesized that these gene variants contribute to variable metformin treatment response in polycystic ovary syndrome.
Materials & Methods: The discovery cohort (n = 38) was studied in an open-label study.
Reprod Biol Endocrinol
October 2015
Background: Polycystic ovary syndrome (PCOS) is a heterogeneous disorder because of the variable criteria used for diagnosis. Therefore, International Classification of Diseases 9 (ICD-9) codes may not accurately capture the diagnostic criteria necessary for large scale PCOS identification. We hypothesized that use of electronic medical records text and data would more specifically capture PCOS subjects.
View Article and Find Full Text PDFBackground: Topically delivered tenofovir (TFV) from intravaginal rings, tablets, or gels is being evaluated for HIV prevention. We previously demonstrated that TFV delivered vaginally by gel protected macaques from vaginal infection with SHIV. Here we investigated efficacy of the TFV gel against vaginal transmission of a TFV-resistant SHIV containing the K65R mutation (SHIV162P3K65R) and its relationship to drug levels in vaginal tissues.
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