RESUMO
Exocrine pancreatic insufficiency, haematological dysfunction, and skeletal abnormalities are the three clinical characteristics of the rare inherited bone marrow failure syndrome (IBMFS), known as Shwachman-Diamond syndrome (SDS). Cirrhosis at a neonatal age is uncommon and is typically not documented, as in neonatal presentation. Here, we present a case of SDS in which bi-cytopenia with macro-nodular cirrhosis emerged before the age of one month. Utilising genetic testing on the infant and both parents, we were able to confirm the diagnosis. We were expecting a higher-level liver transplant set-up, but the infant passed away in the interim. Genetic studies play a significant part in the diagnosis of difficult cases.
RESUMO
Assessment of the nutritional composition of Human Breast Milk (HBM) is important to understand its sufficiency as the sole nutrient source in infants. The present study is aimed to analyze the proximate composition along with total amino acid and fatty acid profile in term and preterm HBM of different socio economic status. This cross sectional study included, 120 lactating mothers with term or preterm gestation from maternity hospitals located in Hyderabad, Telangana. Nutritional proximate, total amino and fatty acid profiles were estimated in pooled human milk collected from each participant within the first week of postpartum. The macronutrient composition in term was similar to that of preterm breast milk. The essential amino acid Leucine was significantly high in preterm (8.91 ± 0.18) when compared to term (8.61 ± 0.23). ω-5 fatty acid Myristoleic acid was significantly high in preterm (0.14 ± 0.02) when compared to term (0.11 ± 0.02), whereas ω-6 fatty acids like Docosadienoic Acid and Eicosadienoic acid were found to be significantly high in term when compared to preterm. Further, it was also found that the mono unsaturated and ω-9 fatty acids were significantly high in lower socio economic group, whereas, poly unsaturated and ω -3 and 6 fatty acids were significantly high in upper socio economic group. The present study concludes that, nutritional composition like essential amino and fatty acids of human milk vary significantly between different gestational age as well as in socio economic groups.