Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.

Background: Tay-Sachs disease (TSD) is an inherited neurodegenerative disorder caused by a lysosomal β-hexosaminidase A deficiency due to mutations in the HEXA gene. The late-onset form of disease (LOTS) is considered rare, and only a limited number of cases have been reported. The clinical course of LOTS differs substantially from classic infantile TSD.

Associations between breastfeeding rates and infant disease: A survey of 2338 Czech children.

Aim: Evidence has demonstrated that breastfeeding is the optimal nutrition for infants. The present study aims to report possible associations of the duration of full or partial breastfeeding with selected health outcomes during infancy.

Methods: Data from 2304 mothers were obtained by online mother-reported questionnaires at the age of 1 year of the child, providing information on full and partial breastfeeding durations, the frequency of infant upper respiratory tract infections and possible antibiotics use, and the occurrence of allergic diseases.

The Age Dependent Progression of Hajdu-Cheney Syndrome in Two Families.

Hajdu-Cheney syndrome (HCS) is a rare multi-system disease with autosomal dominant inheritance and skeletal involvement, resulting mostly in craniofacial dysmorphy with mid-face hypoplasia, dental anomalies, short stature, scoliosis, shortening of the digits and nail beds, acro-osteolysis and osteoporosis. We report the progression of clinical and radiographic findings in five patients with Hajdu-Cheney syndrome from two families. A custom capture array designed to capture exons and adjacent intron sequences of 230 selected genes were used for molecular analyses, and the pathogenic variants identified were confirmed by PCR and Sanger sequencing.