Metabolic Evaluation in Children aged 3 months to 2 years with Global Developmental Delay.

Objectives: To study the clinical profile and role of metabolic evaluation in children aged 3 mo to 2 y with global developmental delay (GDD) of unclear etiology.

Methods: In this prospective study, demographic and clinical data along with first line metabolic test results [blood glucose, arterial blood sample analysis, renal function tests, uric acid, serum electrolytes, liver function tests (LFTs), plasma ammonia, arterial blood lactate and pyruvate, urine ketone/ reducing substances] were documented and analyzed. Tandem Mass Spectroscopy (TMS) and Gas Chromatography and Mass Spectrometry (GC-MS) data were also analysed.

Metabolic Bone Disease in Children With Transfusion-Dependent Thalassemia.

Objective: This study aimed to detect metabolic bone disease and endocrinopathies in a cohort of patients with transfusion-dependent thalassemia (TDT).

Methods: This prospective study was conducted between March 2020 - August 2021. Children with TDT older than 5 years, receiving regular blood transfusion, underwent comprehensive endocrine and metabolic bone disease evaluation, which included screening for short stature, delayed puberty, diabetes mellitus, hypothyroidism, adrenal insufficiency and hypoparathyroidism.

Clinical Profile and Outcome of Children with Congenital Obstructive Uropathy.

Objectives: To study the etiology and clinical profile of congenital obstructive uropathy in children, renal status and growth at diagnosis and at follow-up and to determine the predictors for development of chronic kidney disease (CKD).

Methods: An observational (retrospective-prospective) study was conducted at a tertiary care hospital in South India from September 2014 through September 2016. Sixty children diagnosed to have congenital obstructive uropathy with a minimum follow-up period of 5 y were included and followed up prospectively for 2 more years during the study period.

Concomitant Temporomandibular Joint Ankylosis and Maxillomandibular Fusion in a Child with Klippel- Feil Syndrome: A Case Report.

Klippel-Feil syndrome (KFS) is classically characterized by fusion of any of the two of seven cervical vertebrae. It is identified by the presence of a triad of clinical signs including short neck, limitation of head and neck movements and low posterior hairline. Unusual bony malformations leading to facial asymmetry is the most common oral manifestation associated with KFS.

Central nervous system melioidosis in the pediatric age group: review.

Purpose: Melioidosis is a potentially fatal infectious disease caused by Burkholderia pseudomallei. Neurologic involvement in pediatric age group is very rare, and only a handful of cases have been reported in literature. We sought to provide a systematic review of pediatric neurologic melioidosis.

Pediatric melioidosis in Southern India.

Melioidosis in children is increasingly detected from the coastal region of Southern India during monsoon. We present 11 cases of melioidosis, ranging from localized to disseminated, treated successfully, barring one death. It calls for awareness and upgrading laboratory facilities for better diagnosis and management of pediatric melioidosis.

Clinicohematological study of thrombocytosis in children.

Introduction. Primary thrombocytosis is very rare in children; reactive thrombocytosis is frequently observed in children with infections, anemia, and many other causes. Aims and Objectives.

Case report on an infant presenting with hypoglycemia, and milky serum.

A 4-month-old male baby who presented in a moribund condition with seizures was found to have hepatomegaly, hypoglycemia and milky serum. Serum triglycerides were markedly elevated (3 168 mg/dL) with cholesterol being 257 mg/dL and high density lipoprotein levels were low (19 mg/dL). The possibility of glycogen storage disease type I was considered in the diagnosis.

Factor XIII Deficiency in Siblings: Importance of Prophylactic Replacement.

Factor XIII deficiency, an autosomal recessive trait, can result in serious bleeding manifestation. This case report presents two brothers with Factor XIII deficiency. Though the younger sibling had been screened and diagnosed prophylactic replacement therapy had not been initiated unlike the elder brother.

Finlay-Marks syndrome: report of two siblings and review of literature.

Finlay-Marks syndrome (scalp-ear-nipple syndrome), is the infrequently reported association of scalp aplasia, malformed ears, and breast abnormalities varying from small nipples to complete absence of breasts. Other manifestations are variable and some of them resemble ectodermal dysplasia and include dystrophy of nails and teeth, sparse hair, decreased sweating, and cutaneous syndactyly of digits. Renal anomalies have been reported in some patients leading to hypertension and renal insufficiency.

Oxidative stress in sepsis in children.

Background & Objective: Information on oxidative damage during sepsis in children is not available, we undertook this study to assess the levels of certain antioxidants in blood of children with sepsis.

Methods: Study group had 38 children with sepsis (<5 yr) and 39 age-and sex-matched controls admitted to a tertiary care hospital. Red cell glutathione (GSH), superoxide dismutase (SOD) and thiobarbituric acid reactive substance (TBARS) and plasma vitamin C were estimated by standard techniques.

Vaginal endodermal sinus tumor.

Malignant germ cell tumors are rare tumors of childhood accounting less than 3% of pediatric malignancies, and endodermal sinus tumor (EST) is the most common histological subtype. The vagina is an extremely rare site for germ cell tumors (GCT). A one-year female was admitted with history of bleeding per vagina.

Congenital tuberculosis associated with maternal asymptomatic endometrial tuberculosis.

This is a report of a 4-month-old baby girl who presented with respiratory distress, bronchopneumonia, marasmus and hepatosplenomegaly and proved to have congenital tuberculosis on the basis of a strongly positive Mantoux test and liver biopsy findings. Endometrial biopsy in the asymptomatic mother confirmed the source of infection and the perinatal onset of illness. The age range of previously reported cases of congenital tuberculosis is 1-84 days and this case would appear to be the latest presentation of congenital tuberculosis in the literature.