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.

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.

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.