Biliary Atresia With Extrahepatic Cyst: A Diagnostic Dilemma.

Biliary atresia (BA) is a rare disorder that usually presents with cholestatic symptoms such as jaundice, pale stool, and dark urine shortly after birth. Intracranial hemorrhage is a rare manifestation. BA may sometimes be associated with a cyst in the biliary tree. Differentiating choledochal cyst with BA or cystic biliary atresia can be quite challenging yet very important as they differ significantly in their prognosis and treatment. Furthermore, clear mucoid fluid in the extrahepatic cyst is an unusual occurrence. This case report aims to raise awareness about this rare variant to facilitate appropriate and timely diagnosis and treatment. We report a case of an infant who presented with intracranial hemorrhage and conjugated hyperbilirubinemia. The ultrasonographic and magnetic resonance cholangiopancreatography (MRCP) findings suggested Type I choledochal cyst, but it was later diagnosed as biliary atresia with an extrahepatic cyst and was not corrected by Kasai's operation.

Clinico-Laboratory Profile, Complications and Therapeutic Outcome of Scrub Typhus in Children.

BACKGROUND: Scrub typhus, an important cause of undifferentiated fever, is grossly neglected and often misdiagnosed in low and middle income countries like Nepal. The main aim of this study was to describe the clinico-laboratory profile, drug used in treatment, predictor of PICU admission and therapeutic outcome of serologically confirmed scrub typhus among Nepalese children. METHODS: A prospective observational study was carried out in children aged up to 14 years with serologically (IgM ELISA) diagnosed Scrub typhus, admitted in a tertiary care hospital of central Nepal between Jan 2019 to Dec 2019. RESULTS: All 100 children with scrub typhus presented with fever. Other symptoms and sign were cough (29%), abdominal distension (22%) hepatomegaly (45%), splenomegaly (28%), crepitation (10%) and eschar (6%). Similarly, thrombocytopenia (72%), and increased liver enzymes SGPT (51%) and SGOT (62%) were found. Co-infection with dengue (5%) brucella (5%) and UTI (5%) were seen. Thirty six percent has some form of complication. Fifty eight percent of children were treated with azithromycin and 25% treated with doxycycline. The mean length of hospital stay was 6.68 ±2.97 days with a mean duration of defervescence being 30.07 ± 26.65 hours. The increased risk of PICU admission was found in those children with crepitation in chest (OR: 15.17, 95% CI: 3.4-66.8) during presentation and those children not getting azithromycin as treatment (OR: 3.8, 95% CI: 1.2-11.7) Conclusions: Scrub typhus should be considered as a differential diagnosis in any community acquired acute undifferentiated febrile illness regardless of the presence of an eschar. Sepsis, meningitis and pneumonia are important complications. Child having crepitation on presentation has an increased chance admission in critical care unit. The child receiving azithromycin has less chance to land in PICU.

Combined effect of GSTT1 and GSTM1 polymorphisms on human male infertility in north Indian population.

Genes of different pathways regulate spermatogenesis, and complexity of spermatogenic process indicates that polymorphisms or mutations in these genes could cause male infertility. Detoxification pathway is involved in the regulation of spermatogenesis by reducing oxidative stress and contributes to the maintenance of global methylation in concert with other pathways. Glutathione S-transferases (GSTs) belong to the family of phase II antioxidant enzymes involved in the cellular detoxification of various physiological substances. Glutathione S-transferases act as an antioxidant and protect spermatozoa from oxidative stress. Increase in the levels of reactive oxygen species (ROS) along with reduced activity of GSTs may result in sperm membrane damage and DNA fragmentation. A case-control study was done to elucidate the role of deletion polymorphism of GSTT1 and GSTM1 genes from GSTs family on idiopathic human male infertility. The study comprises 2 groups: 113 nonobstructive azoospermia patients and 91 healthy fertile controls. Genomic DNA was analyzed by polymerase chain reaction for GSTT1 and GSTM1 genes. The study showed statistically significant protective association of GSTT1 null genotype with human male infertility (odds ratio [OR]: 0.3, 95% confidence interval [CI] 0.143-0.9966, P = .048) but not with GSTM1 null genotype (OR: 0.66, 95% CI 0.3653-1.2234, P = .19). Also, combination of null genotypes of GSTM1 and GSTT1 confers protective effect (OR: 0.28, CI 0.0801-0.948; P = .04). Probably, individuals bearing GSTM1 and GSTT1 (-/-) genotypes may have protective effect by gene-gene interaction mechanism. In summary, our study underscores the significance of combined effect of GSTT1 and GSTM1 null genotypes in modulating the risk of male infertility.