Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:2.7.10.2 (focal adhesion kinase)
 44,029 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The definition of the age of young offenders was changed by an Act of Parliament (The Crime and Disorder Act 1998), which was implemented by the Home Office on 1 April 2000. This Act brought down the upper-age limit of young offenders from 20 to 17. Our objective was to investigate the sexually transmitted infections (STIs) among this redefined group of young offenders. Among various types of STIs, we observed that a significant number of young prisoners had complaints of testicular lumps (35%), which were not reported in the past. We tried to find out the reason for this common complaint and believe that this was due to extra vigilance, and testicular self-examination in conjunction with sex and relationship programmes which ran alongside other programmes developed as a joint venture by Prisoner Learning and Skills Unit, Prison Health Policy Unit and Sex Education Forum.
Int J STD AIDS 2008 May
PMID:Frequent complaints of testicular lumps by young prisoners. 1848 64

Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depressed nasal bridge, small mouth, long smooth philtrum, and full lower lip. Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior problems, recurrent infections, and eye problems. Other less frequent findings include hearing loss, growth hormone deficiency, hernias, and obesity. Congenital malformations, while rare, can be severe and include structural brain anomalies, cardiovascular malformations, congenital diaphragmatic hernia, intestinal atresia, imperforate anus, and myelomeningocele. Karyotypes are typically normal, and the deletions were detected in these individuals by array comparative genomic hybridization (aCGH). The deletions range in size from 1.7-6.1 Mb and usually result from nonallelic homologous recombination (NAHR) between paralogous low-copy repeats (LCRs). The majority of 15q24 deletions have breakpoints that localize to one of five LCR clusters labeled LCR15q24A, -B, -C, -D, and -E. The smallest region of overlap (SRO) spans a 1.2 Mb region between LCR15q24B to LCR15q24C. There are several candidate genes within the SRO, including CYP11A1, SEMA7A, CPLX3, ARID3B, STRA6, SIN3A and CSK, that may predispose to many of the clinical features observed in individuals with 15q24 deletion syndrome. The deletion occurred as a de novo event in all of the individuals when parents were available for testing. Parental aCGH and/or FISH studies are recommended to provide accurate genetic counseling and guidance regarding prognosis, recurrence risk, and reproductive options. Management involves a multi-disciplinary approach to care with the primary care physician and clinical geneticist playing a crucial role in providing appropriate screening, surveillance, and care for individuals with this syndrome. At the time of diagnosis, individuals should receive baseline echocardiograms, audiologic, ophthalmologic, and developmental assessments. Growth and feeding should be closely monitored. Other specialists that may be involved in the care of individuals with 15q24 deletion syndrome include immunology, endocrine, orthopedics, neurology, and urology. Chromosome 15q24 microdeletion syndrome should be differentiated from other genetic syndromes, particularly velo-cardio-facial syndrome (22q11.2 deletion syndrome), Prader-Willi syndrome, and Noonan syndrome. These conditions share some phenotypic similarity to 15q24 deletion syndrome yet have characteristic features specific to each of them that allows the clinician to distinguish between them. Molecular genetic testing and/or aCGH will be able to diagnose these conditions in the majority of individuals. DISEASE NAME AND SYNONYMS: Chromosome 15q24 deletion syndrome. 15q24 deletion syndrome. 15q24 microdeletion syndrome.
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PMID:Chromosome 15q24 microdeletion syndrome. 2221 33

Alcohol use may have a negative impact on the course of HIV disease and the effectiveness of its treatment. We studied patients with HIV who use alcohol and associated socio-demographic, health and psychosocial factors. Outcomes from this study may help in selecting patients from clinical practice with high-risk alcohol use and who are likely to benefit most from alcohol reduction interventions. In a cross sectional study in three primary health care clinics in Pretoria, South Africa, from January 2012 to June 2012, patients with HIV infection were interviewed and patients' medical files were reviewed to obtain data on levels of alcohol use (Alcohol Use Disorder Identification Test), patients' socio-demographic characteristics, HIV-related information, health related quality of life (WHOQoL-HIVBref), internalized AIDS stigma, symptoms of depression and adherence to antiretroviral therapy. Analyses consisted of descriptive statistics, bi- and multivariate logistic regression models. A total of 2230 patients (1483 [66.5%] female) were included. The median age was 37 years (interquartile range 31-43), 99.5% were black Africans, 1975 (88.6%) had started ART and the median time on ART was 22 months (interquartile range 9-40). No alcohol was used by 64% of patients, 8.9% were low risk drinkers, 25.1% of patients were hazardous or harmful drinkers and 2.0% had possible alcohol dependence. In multivariate analysis high-risk drinking was positively associated with male gender, never being married, tobacco use, a higher score for the 'level of independence'-domain measured with the WHOQoL-HIVBref questionnaire, and with more depressive symptoms compared to low-risk drinking. This study shows a high prevalence of hazardous or harmful drinking in patients with HIV infection (especially men) attending primary health care clinics in South Africa. Routine screening for alcohol use should be introduced in these clinics and harm reduction interventions should be evaluated, taking into account associated factors.
Int J STD AIDS 2017 06
PMID:High-risk alcohol use and associated socio-demographic, health and psychosocial factors in patients with HIV infection in three primary health care clinics in South Africa. 2744 55