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. RESULTS: Overall breastfeeding initiation rates (i.e. including both partial and full breastfeeding rates counted together) were 97.8%, declined to 95.1% at the age of 3 months, and remained as high as 90.0% at 6 months. At 1 year, 74.7% of children were still partially breastfed. There was no significant benefit of either full or partial breastfeeding over formula feeding for upper respiratory tract infection rates. Fully breastfed children had a significantly lower risk of early exposure to antibiotics when compared with either partially breastfed (odds ratio, OR: 0.74; 95% CI: 0.56, 1.00, P = 0.048) or formula-fed (OR: 0.67; 95% CI: 0.46, 1.0, P = 0.047) children. We found a neutral effect of breastfeeding on the development of allergies. CONCLUSIONS: Although no significant association between either full or partial breastfeeding versus formula feeding and the occurrence of respiratory infections during infancy was found, we demonstrated a significantly lower risk of early exposure to antibiotics in fully breastfed children when compared with those either partially breastfed or formula-fed.

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 ß-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. METHODS: Comprehensive data from 14 Czech patients with LOTS were collated, including results of enzyme assays and genetic analyses. RESULTS: 14 patients (9 females, 5 males) with LOTS were diagnosed between 2002 and 2018 in the Czech Republic (a calculated birth prevalence of 1 per 325,175 live births). The median age of first symptoms was 21 years (range 10-33 years), and the median diagnostic delay was 10.5 years (range 0-29 years). The main clinical symptoms at the time of manifestation were stammering or slurred speech, proximal weakness of the lower extremities due to anterior horn cell neuronopathy, signs of neo- and paleocerebellar dysfunction and/or psychiatric disorders. Cerebellar atrophy detected through brain MRI was a common finding. Residual enzyme activity was 1.8-4.1% of controls. All patients carried the typical LOTS-associated c.805G>A (p.Gly269Ser) mutation on at least one allele, while a novel point mutation, c.754C>T (p.Arg252Cys) was found in two siblings. CONCLUSION: LOTS seems to be an underdiagnosed cause of progressive distal motor neuron disease, with variably expressed cerebellar impairment and psychiatric symptomatology in our group of adolescent and adult patients. The enzyme assay of ß-hexosaminidase A in serum/plasma is a rapid and reliable tool to verify clinical suspicions.

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. In both families we observed age-dependent changes in the disease, with a progression of pain in older patients, a shortening of digits and nail beds on both the hands and feet, kyphoscoliosis and the persistence of Wormian bones in lambdoid sutures. Molecular analyses performed in two patients revealed that they are heterozygotes for a c.6255T>A (p.Cys2085*) variant in the NOTCH2 gene, resulting in a premature stop-codon. Bone mineral density (Z-score < -2) did not improved in a girl treated with calcium and vitamin D supplementation during childhood and bisphosphonate during adolescence. Hajdu-Cheney syndrome is a slowly progressive disease with a frequently unfavourable prognosis in elderly patients, especially for the development of dental anomalies, osteoporosis and the progression of skeletal complications requiring orthopedic surgeries.