Emicizumab in Children with Severe Hemophilia A.

Objectives: To assess the effectiveness and tolerability of emicizumab prophylaxis in hemophilia A (HA). Emicizumab is a novel therapeutic drug which is the first and only non-factor replacement agent licensed for use in people with HA.

Methods: Pediatric patients aged 1 mo to 12 y with severe HA and frequent / life threatening bleeding events, with or without coagulation protein factor VIII inhibitors were enrolled (n = 18) in this observational pre-post study.

Effect of duration of sodium valproate therapy on bone mineral density and vitamin D levels.

Objective: This study aimed to evaluate the impact of prolonged sodium valproate use on bone mineral density (BMD) and Vitamin D levels in pediatric epilepsy patients.

Methods: In a cross-sectional study conducted at the Epilepsy Clinic of Niloufer Hospital, Hyderabad, India, 50 pediatric patients (aged 4-10 years) were recruited. The cohort comprised 30 epilepsy patients on sodium valproate treatment (cases) and 20 healthy siblings without epilepsy or valproate use (controls).

Unraveling congenital ptosis with the aid of the pediatric perimeter device.

Background: Ocular morbidity with an early onset can have a significant impact on the long-term development of an individual. Hence, careful assessment of visual functions early on is very important. However, testing infants always poses a challenge.

G6036A substitution in mitochondrial COX I gene compromises cytochrome c oxidase activity in thiamine responsive Leigh syndrome patients.

Cytochrome c oxidase (COX) deficiency is known to be associated with Leigh syndrome (LS), however there are limited studies on genetic screening of mitochondrial (mt) DNA encoding COX genes as well as the functional validation of identified variants. In our previous studies, we cared for total 165 LS patients and analyzed the nucleotide variations across entire mt genome. We observed a high level of genetic heterogeneity in these patients.

Novel p.P298L SURF1 mutation in thiamine deficient Leigh syndrome patients compromises cytochrome c oxidase activity.

SURF1 is a nuclear gene and encodes for an important assembly factor for cytochrome c oxidase enzyme. A number of mutations in SURF1 gene render cytochrome c oxidase deficiency, a major causative factor for Leigh syndrome. We screened all the 9 exons and exon-intron boundaries of SURF1 gene in 165 Indian Leigh syndrome patients who were thiamine responsive too.

Abnormalities of the intestinal pacemaker cells, enteric neurons, and smooth muscle in intestinal atresia.

Background: Small bowel atresia is a congenital disorder that carves a substantial morbidity. Numerous postoperative gastrointestinal motility problems occur. The underlying cause of this motility disorder is still unclear.

Genetic heterogeneity of mitochondrial genome in thiamine deficient Leigh syndrome patients.

In our previously published study, we cared for 165 thiamine deficient Leigh syndrome (LS) patients who presented in acute life threatening conditions with severe neurological abnormalities. However the molecular basis for this atypical phenotype was not explored. This study is an effort to undermine the possible molecular defects in mitochondria of those patients and put-forth an explanation towards this clinical presentation.

Immunohistochemical Expression of Ki67 and p53 in Wilms Tumor and Its Relationship with Tumor Histology and Stage at Presentation.

Aim. Evaluate tumor proliferation marker (Ki67) and p53 tumor suppressor marker in Wilms tumor and correlate with histology, anaplasia, and staging. Design.

Efficacy of the seven feature, fifteen point histological scoring system and CD56 in interpretation of liver biopsies in persistent neonatal cholestasis: a five-year study.

Context: Neonatal cholestasis (NC) lasting more than 2 weeks affects one in 2500 live births. Extrahepatic biliary atresia (EHBA) and idiopathic neonatal hepatitis account for about 70% of all cases of NC. Differentiating these two conditions is important as patient management is very different for both the conditions.

Neonatal Meningitis by Multidrug Resistant Elizabethkingia meningosepticum Identified by 16S Ribosomal RNA Gene Sequencing.

Clinical and microbiological profile of 9 neonates with meningitis by Elizabethkingia meningosepticum identified by 16S ribosomal gene sequencing was studied. All the clinical isolates were resistant to cephalosporins, aminoglycosides, trimethoprim-sulfamethoxazole, β -lactam combinations, carbapenems and only one isolate was susceptible to ciprofloxacin. All the isolates were susceptible to vancomycin.

Calretinin immunohistochemistry: A new cost-effective and easy method for diagnosis of Hirschsprung's disease.

Aim: To evaluate the efficacy of calretinin immunostaining in diagnosing Hirschsprung's disease (HD).

Materials And Methods: Sixty cases were studied over a period of 1 year (July 2010-June 2011). There were 36 full-thickness biopsies and 24 resected specimens.

A rare association of congenital diaphragmatic hernia with lower esophageal atresia and perforation.

Congenital diaphragmatic hernia is known to be associated with esophageal atresia, which is a rare association. We report a rare occurrence of congenital diaphragmatic hernia and lower esophageal atresia.

Perinatal management of common neonatal thoracic lesions.

Esophageal atresia, congenital diaphragmatic hernia, bronchopulmonary malformations and cystic lung diseases are the common neonatal thoracic surgical lesions encountered in practice. The availability of antenatal ultrasonography has lead to these lesions being detected before birth. Antenatal diagnosis can be made with a fair degree of accuracy in tertiary fetal medicine centres.

High prevalence of infantile encephalitic beriberi with overlapping features of Leigh's disease.

Infantile encephalitic beriberi (IEBB) is a rare form of thiamine deficiency and is poorly described. A proportion of Leigh's disease (LD) patients have similar clinical picture and response to thiamine as beriberi, leading to confusion in diagnosis and management. Data on IEBB and LD is scarce and status of thiamine deficiency in India is controversial.

Taurine in infant nutrition.

The importance of taurine in diet is poorly understood. The present evidence suggests that it is a conditionally essential aminoacid in man wherein deficiency states may result in adverse changes which will be improved with supplementation. It has a role in fat absorption in preterm infants and children with cystic fibrosis, retinal dysfunction in patients receiving TPN and those with blind loop gut syndromes.