Epigenetic Abnormalities of 11p15.5 Region in Beckwith-Wiedemann Syndrome - A Report of Eight Indian Cases

Indian Journal of Pediatrics - To report a phenotypic series of eight patients of Beckwith-Wiedemann Syndrome (BWS) with abnormalities of 11p15.5 region to highlight the spectrum of phenotypic...     

Risk factors for suicide attempts among alcohol dependent patients.

Suicidal behavior is a common and important problem among alcohol dependent patients. The study was designed to examine risk factors for attempting suicide in 499 alcohol dependent patients. Those who had attempted suicide (N = 198) were more likely to be female, report a family history of suicidal behavior, report more childhood trauma, report greater levels of aggressive behavior, began heavy drinking earlier, and were more likely to have received antidepressant medication. Logistic regression analysis showed that gender, family history, and childhood sexual abuse history made significant and independent contributions to the risk of a suicide attempt. Thus, developmental, personality, family history, social, and comorbidity risk factors may differentiate alcohol dependent patients who have attempted suicide from those who have not.     

Intuition and problem solving

General practitioners use the hypothetico-deductive method of scientific reasoning to solve problems. In the first few minutes of their consultations physicians form initial hypotheses about their patients' problems. This process has childlike, imaginative qualities based on intuition. It is often outside consciousness and probably based on pattern recognition. It has been neglected from study and analysis because of these `mystical' qualities. Yet it is the key to fast and efficient problem solving. If the process could be understood, its efficiency would be improved. This paper is an attempt to explore the nature of general practitioners' intuition.     

Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment

The COL9A3 gene encodes one of the three alpha chains of Type IX collagen, with heterozygous variants reported to cause multiple epiphyseal dysplasia, and suggested as contributory in some cases of sensorineural hearing loss. Patients with homozygous variants have midface hypoplasia, myopia, sensorineural hearing loss, epiphyseal changes and carry a diagnosis of Stickler syndrome. Variants in COL9A3 have not previously been reported to cause vitreoretinal degeneration and/or retinal detachments. This report describes two families with autosomal dominant inheritance and predominant features of peripheral vitreoretinal lattice degeneration and retinal detachment. Genomic sequencing revealed a heterozygous splice variant in COL9A3 [{"type":"entrez-nucleotide","attrs":{"text":"NG_016353.1","term_id":"283945463"}}NG_016353.1({"type":"entrez-nucleotide","attrs":{"text":"NM_001853.4","term_id":"1432073434"}}NM_001853.4):c.1107 + 1G>C, NC_000020.10({"type":"entrez-nucleotide","attrs":{"text":"NM_001853.4","term_id":"1432073434"}}NM_001853.4):c.1107 + 1G>C, LRG1253t1] in Family 1, and a heterozygous missense variant [{"type":"entrez-nucleotide","attrs":{"text":"NG_016353.1","term_id":"283945463"}}NG_016353.1({"type":"entrez-nucleotide","attrs":{"text":"NM_001853.4","term_id":"1432073434"}}NM_001853.4):c.388G>A p.(Gly130Ser)] in Family 2, each segregating with disease. cDNA studies of the splice variant demonstrated an in-frame deletion in the COL2 domain, and the missense variant occurred in the COL3 domain, both indicating the critical role of Type IX collagen in the vitreous base of the eye.Subject terms: Genetic testing, Medical genetics, Medical genomics     

Food-anticipatory activity and liver per1-luc activity in diabetic transgenic rats

The mammalian Per1 gene is an important component of the core cellular clock mechanism responsible for circadian rhythms. The rodent liver and other tissues rhythmically express Per1 in vitro but typically damp out within a few cycles. In the liver, the peak of this rhythm occurs in the late subjective night in an ad lib-fed rat, but will show a large phase advance in response to restricted availability of food during the day. The relationship between this shift in the liver clock and food-anticipatory activity (FAA), the circadian behavior entrained by daily feeding, is currently unknown. Insulin is released during feeding in mammals and could serve as an entraining signal to the liver. To test the role of insulin in the shift in liver Per1 expression and the generation of FAA, per-luciferase transgenic rats were made diabetic with a single injection of streptozotocine. Following 1 week of restricted feeding and locomotor activity monitoring, liver was collected for per-luc recording. In two separate experiments, FAA emerged and liver Per1 phase-shifted in response to daytime 8-h food restriction. The results rule out insulin as a necessary component of this system.