Galactosemia is an autosomal recessive inheritance and there is cellular deficiency of enzymes leading to defective/impaired metabolism of galactose resulting in toxic byproducts like galactilol, galactose-1-phosphate and galactonate that affect mainly liver, brain, kidneys, lens and gonads. Galactosemia appears as a rare metabolic cause of neonatal cholestasis syndrome (NCS). The classic disease manifestation after the first milk feeding varies in severity from an acute fulminant illness to a more common subacute illness beginning within the first few days of life. Neonatal sepsis is one of the presentations. Galactokinase deficiency results primarily in cataract formation and galactosuria. The preliminary diagnosis of galactosemia in sick neonates and suspected infants is made by Benedict test in several urine specimens and followed by dipstick test to exclude glycosuria. Gold standard test is demonstration of low enzyme activity in erythrocyte. Galactosemia can be detected by newborn screening methods like the Guthrie test using filterpaper blood samples. Classical form of galactosemia should be treated with an absolute galactose restricted diet without waiting for confirmation of the diagnosis. Here we report a case of a 50-dayold boy with features of neonatal cholestasis, diagnosed as galactosemia by using a simple cost effective method. J Enam Med Col 2020; 10(1): 43-48
Background: Major Depressive Disorder (MDD) is associated with reduced lung function.Objectives: To observe & compare FEF25%-75% in Major Depressive Disorder patients with control group.Methods: This prospective study was carried out in the Department of Physiology, Bangabandhu Sheikh Mujib Medical University (BSMMU) from January to December, 2014 to assess the lung function status in newly diagnosed MDD patients. For this, 30 newly diagnosed female MDD patients (group B), aged 20 to 50 years were enrolled from the Department of Psychiatry of BSMMU. For control (group A) age, BMI, and occupation matched 30 apparently healthy females were randomly selected by personal contact. FEF25%-75% of all subjects were assessed by a portable digital spirometer (PONY FX, Cosmed, Italy). For statistical analysis, ANOVA, Independent samplet test were done and p value ?0.05 was considered as level of significance.Results: FEF25%-75%was significantly lower (p?0.001) in all MDD patients than control.Conclusion: From this study it may be concluded that the ventilatory lung function is significantly reduced in newly diagnosed MDD patients.Bangladesh Crit Care J September 2017; 5(2): 126-128
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