EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.

Mutations in ATP6V1B2, which encodes the B2 subunit of the vacuolar H + ATPase have previously been associated with Zimmermann-Laband syndrome 2 (ZLS2) and deafness-onychodystrophy (DDOD) syndrome. Recently epilepsy has also been described as a potentially associated phenotype. Here we further uncover the role of ATP61VB2 in epilepsy and report autosomal dominant inheritance of a novel missense variant in ATP6V1B2 in a large Polish family with relatively mild gingival and nail problems, no phalangeal hypoplasia and with generalized epilepsy. In light of our findings and review of the literature, we propose that the ATP6V1B2 gene should be considered in families with autosomal dominant epilepsy both with or without intellectual disability, and that presence of subtle gingival and nail problems may be another characteristic calling card of affected individuals with ATP6V1B2 mutations.

Quality of Life of Peri and Postmenopausal Women attending Outpatient Department of Obstretics and Gynecology of A Tertiary Care Hospital.

BACKGROUND: Many women experience menopausal symptoms during menopausal transition and postmenopausal years. This natural phenomenon often results in various psychological, somatic and urinary symptoms which impair the overall quality of life of women. This study aimed to access the quality of life of women during perimenopausal and early postmenopausal years attending outpatient department of OBGYN at Kathmandu Medical College Teaching Hospital. METHODS: A descriptive cross-sectional study of 240 perimenopausal women of aged 45-60 years attending gynaecological outpatient clinic was carried out between 15th January to 13th April 2017. Data were collected using Women Health Questionnaire, containing 37 questions by interview technique and analyzed using chi-square test to assess the association between sociodemographic information and the quality of life. RESULTS: The median age of onset of menopause was 50 years and 50.8% of respondents were having good quality of life. Sociodemographic variables such as age of women, marital status, educational level, last menstrual period and regular menstrual period were statistically significant with the quality of life of peri and postmenopausal women. CONCLUSIONS: Menopausal symptoms are common but due to lack of awareness, they do not seek medical advice. Hence priority lies on generating awareness among women about menopause and menopausal symptoms and establishment of dedicated elderly clinic to help these women live a healthy and comfortable life.

Cerebral Artery Aneurysm Masquerading as Ptosis in a Child.

An 8-year-old female presented to Eye OPD of Dhulikhel Hospital, Kathmandu University Hospital, with drooping of the right upper lid and inability to move right eye ball since 3 days. She had no history of trauma or fall injury. On ocular examination, visual acuity was 6/6 on both eyes and there was severe ptosis on the right eye in which eyeball remained abducted with restriction of ocular motility on all gazes. The pupil was dilated and 6mm on the right eye in room light. Posterior segment examination was normal. MRI angiography was done which revealed a right Posterior cerebral artery aneurysm.