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ATP1A3, the gene encoding the α3-subunit of the Na(+) /K(+) -ATPase pump, has been involved in four clinical neurological entities (1) alternating hemiplegia of childhood (AHC); (2) rapid-onset dystonia parkinsonism (RDP); (3) CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome; and (4) early infantile epileptic encephalopathy. Here, we report on a 34-year-old female presenting with a new ATP1A3-related entity involving a relapsing encephalopathy characterized by recurrent episodes of cerebellar ataxia and altered consciousness during febrile illnesses. The term RECA is suggested - relapsing encephalopathy with cerebellar ataxia. The phenotype of this patient, resembling mitochondrial oxidative phosphorylation defects, emphasizes the possible role of brain energy deficiency in patients with ATP1A3 mutations. Rather than multiple overlapping syndromes, ATP1A3-related disorders might be seen as a phenotypic continuum.Microsatellites are widely used in population genetics to uncover recent evolutionary events. [https://www.selleckchem.com/products/epz011989.html check details] They are typically genotyped using capillary sequencer, which capacity is usually limited to 9, at most 12 loci for each run, and which analysis is a tedious task that is performed by hand. With the rise of next-generation sequencing (NGS), a much larger number of loci and individuals are available from sequencing for example, on a single run of a GS Junior, 28 loci from 96 individuals are sequenced with a 30X cover. We have developed an algorithm to automatically and efficiently genotype microsatellites from a collection of reads sorted by individual (e.g. specific PCR amplifications of a locus or a collection of reads that encompass a locus of interest). As the sequencing and the PCR amplification introduce artefactual insertions or deletions, the set of reads from a single microsatellite allele shows several length variants. The algorithm infers, without alignment, the true unknown allele(s) of each individual from the observed distributions of microsatellites length of all individuals. MicNeSs, a python implementation of the algorithm, can be used to genotype any microsatellite locus from any organism and has been tested on 454 pyrosequencing data of several loci from fruit flies (a model species) and red deers (a nonmodel species). Without any parallelization, it automatically genotypes 22 loci from 441 individuals in 11 hours on a standard computer. The comparison of MicNeSs inferences to the standard method shows an excellent agreement, with some differences illustrating the pros and cons of both methods.Alcohol, the most widely used substance among men who have sex with men (85%), remains an important factor in HIV research among this high-risk population. However, research on alcohol use among Black and Latino men who have sex with men (BLMSM), a population disproportionately affected by HIV in the United States, is limited and inconclusive. This study explored sociodemographic and HIV risk with daily heavy and low-risk drinking patterns among BLMSM. BLMSM ( N = 188) aged 18 to 40 years were recruited through social media, local colleges, heteronormative clubs, private men's groups, gay establishments, and organized events in Los Angeles County. Participants completed self-administered questionnaires. Fisher's exact tests revealed significant relationships between drinking patterns and condomless insertive anal intercourse ( p = .001), race ( p less then .001), age ( p = .02), and perception of alcohol-related HIV risk ( p = .007). The Fisher's exact tests findings for age held true in the multiple regression model ( p = .014). Findings suggest that BLMSM who engage in higher risk drinking also engage in alcohol-related HIV risk. Culturally competent interventions should consider including a combined focus to explore the synergy between risky drinking patterns and HIV risk among BLMSM.Black young gay, bisexual, and other men who have sex with men (YGBMSM) are at high risk for negative health outcomes, though this population is underrepresented in the health literature. An extensive literature review and content analysis of health-related peer-reviewed articles (1988-2013) was conducted that targeted Black YGBMSM, examining five content areas sexual health, health care, substance use, psychosocial functioning, and sociostructural factors. A coding sheet was created to collect information on all content areas and related subtopics and computed descriptive statistics. Out of 54 articles, most were published after 2004 ( N = 49; 90.7%) and addressed some aspect of sexual health ( N = 50; 92.6%). Few articles included content on psychosocial functioning, including bullying/harassment, suicide, and racial/ethnic identity. Data on health care delivery/receipt and health insurance were underrepresented; tobacco use and substance abuse were seldom addressed. Important sociostructural factors, including sexual networks and race-based discrimination, were poorly represented. Last, there was a noteworthy deficit of qualitative studies and research exploring intersectional identity and health. This review concludes that studies on Black YGBMSM health places sex at the forefront to the neglect of other critical health domains. More research is needed on the diverse health issues of a vulnerable and underexamined population.The Sexual Health in Faith Traditions Study evaluated the relationships between religiosity, spirituality, internalized homonegativity, and sexual risk behaviors among a sample of African American men who have sex with men living in the Deep South. Participants were recruited primarily from Black Gay Pride celebrations to complete a self-administered, paper-and-pencil survey. Structural equation modeling was used to determine relationships between key constructs and condom use for insertive ( n = 285) and receptive ( n = 263) anal intercourse in the past 3 months. Almost half of respondents reported using condoms "every time" when engaging in insertive (48.3%) or receptive (45.1%) anal intercourse. Religiosity and spirituality were differentially associated with dimensions of internalized homonegativity. While no significant direct relationships were reported between either religiosity or spirituality and condom use, dimensions of internalized homonegativity mediated significant indirect relationships. Findings suggest that religiosity and spirituality influence African American men who have sex with men's internalized homonegativity and, subsequently, engagement in safer sex behaviors.Men with disabilities experience higher rates of interpersonal violence (IPV) than either women or men without disabilities, yet research exploring this problem is limited. This retrospective descriptive study examines the clinical files of male survivors of IPV with disabilities who received services from the Secret Garden, a disability-specific nonresidential IPV program located in New York City. These data inform the role health care providers may fill in helping address IPV against men with disabilities. Abuse history, medical and mental health service utilization, and the channels through which men accessed IPV assistance were areas of focus for analysis. Data were analyzed descriptively and outcomes reported as frequencies and percentages. Results indicate that more than half of study participants were abused by an intimate partner (66.2%) and nearly two-thirds described an act of physical abuse as the most serious type of abuse perpetrated (71.7%). Nearly half (40.8%) had previous contact with medical providers due to abuse. The high prevalence of physical abuse in this sample has critical physical and mental health implications, and could further exacerbate already precarious health statuses. While nearly half reported previous contact with health care providers due to abuse, only 15.8% were referred for IPV assistance by a health care provider, indicating a missed opportunity to identify signs of abuse and direct survivors to additional resources.The postnatal period in mammals represents a developmental epoch of significant change in the autonomic nervous system (ANS). This study focuses on postnatal development of the area postrema, a crucial ANS structure that regulates temperature, breathing, and satiety, among other activities. We find that the human area postrema undergoes significant developmental changes during postnatal development. To characterize these changes further, we used transgenic mouse reagents to delineate neuronal circuitry. We discovered that, although a well-formed ANS scaffold exists early in embryonic development, the area postrema shows a delayed maturation. Specifically, postnatal days 0-7 in mice show no significant change in area postrema volume or synaptic input from PHOX2B-derived neurons. In contrast, postnatal days 7-20 show a significant increase in volume and synaptic input from PHOX2B-derived neurons. We conclude that key ANS structures show unexpected dynamic developmental changes during postnatal development. These data provide a basis for understanding ANS dysfunction and disease predisposition in premature and postnatal humans.Glycyrrhizin, a major constituent of licorice (Glycyrrhiza glabra) root, has been reported to ameliorate insulin resistance, hyperglycemia, dyslipidemia, and obesity in rats with metabolic syndrome. Liver dysfunction is associated with this syndrome. The objective of this study is to investigate the effect of glycyrrhizin treatment on metabolic syndrome-induced liver damage. After induction of metabolic syndrome in rats by high fructose (60%) diet for 6 weeks, the rats were treated with glycyrrhizin (50 mg/kg body weight, single intra-peritoneal injection). After 2 weeks of treatment, rats were sacrificed to collect blood samples and liver tissues. Compared to normal, elevated activities of serum alanine transaminase, alkaline phosphatase and aspartate transaminase, increased levels of liver advanced glycation end products, reactive oxygen species, lipid peroxidation, protein carbonyl, protein kinase Cα, NADPH oxidase-2, and decreased glutathione cycle components established liver damage and oxidative stress in fructose-fed rats. Activation of nuclear factor κB, mitogen-activated protein kinase pathways as well as signals from mitochondria were found to be involved in liver cell apoptosis. Increased levels of cyclooxygenase-2, tumor necrosis factor, and interleukin-12 proteins suggested hepatic inflammation. Metabolic syndrome caused hepatic DNA damage and poly-ADP ribose polymerase cleavage. Fluorescence-activated cell sorting using annexin V/propidium iodide staining confirmed the apoptotic hepatic cell death. Histology of liver tissue also supported the experimental findings. Treatment with glycyrrhizin reduced oxidative stress, hepatic inflammation, and apoptotic cell death in fructose-fed rats. The results suggest that glycyrrhizin possesses therapeutic potential against hepatocellular damage in metabolic syndrome.<br />The Desmond Tutu Tuberculosis (TB) Centre (DTTC), Stellenbosch University, South Africa.<br />1) To determine whether access to designated funding is associated with the development of expertise in employees, and 2) which other factors are associated with the development of expertise in employees.<br />This was a retrospective study. The target population consisted of all employees at the DTTC during the period 1 January 2004 to 31 December 2011. Improvement in expertise during employment was the primary outcome; the secondary outcome was an increase in educational level linked to the National Qualifications Framework.<br />There was no association between access to funding and expertise development, but an association between the number of months employed and improvement of expertise during employment was observed (OR 1.03, 95%CI 1.02-1.04, P &lt; 0.001), controlling for age at appointment, sex, access to designated funding and education level.<br />The study shows that almost a third of employees increased their expertise, more than 90% had access to designated funding and personnel employed for a longer duration were more likely to experience improvements in expertise.