De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

The contribution of de novo variants as a cause of intellectual disability (ID) is well established in several cohorts reported from the developed world. However, the genetic landscape as well as the appropriate testing strategies for identification of de novo variants of these disorders remain largely unknown in low-and middle-income countries like India. In this study, we delineate the clinical and genotypic spectrum of 54 families (55 individuals) with syndromic ID harboring rare de novo variants.

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.

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Genetic disorders with predominant central nervous system white matter abnormalities (CNS WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 individuals with CNS WMAs from 104 unrelated families. Targeted genetic testing was carried out in 16 families and 13 of them received a diagnosis.

Influenza B infections in children: A review.

Influenza B (IFB) virus belongs to the Orthomyxoviridae family and has two antigenically and genetically distinct lineages; B/Victoria/2/87-like (Victoria lineage) and B/Yamagata/16/88-like (Yamagata lineage). The illness caused by IFB differs from that caused by influenza A. Outbreaks of IFB occur worldwide and young children exposed to IFB are likely to have a higher disease severity compared with adults.

Tuberculosis in a 2.5-month-old infant: congenital or acquired dilemma?

Infants may develop congenital tuberculosis from an infectious mother or acquire the disease postnatally by contact with an infectious adult. Delayed diagnosis is common, especially in infants under 1 year of age, and, if unrecognised, there is an increased risk of death. A 2.

Randomized controlled trial on effectiveness of mHealth (mobile/smartphone) based Preterm Home Care Program on developmental outcomes of preterms: Study protocol.

Aim: To describe a randomized controlled trial protocol designed to evaluate the effectiveness of mobile health based Preterm Home Care Program (mHealthPHCP) known as "NeoRaksha" mobile health application in improving parent-infant-interaction, growth and development of preterms.

Design: A prospective, randomized controlled clinical trial. The protocol is approved and funded by Department of Biotechnology, Government of India on 2 August 2016.

Burkholderia cepacia sepsis among neonates.

Burkholderia cepacia is a rare cause of sepsis in newborns and its transmission involves human contact with heavily contaminated medical devices and disinfectants. The authors aimed to determine epidemiology, clinical features, antibiotic sensitivity pattern, complications and outcome of blood culture proven B. cepacia infections in 12 neonates.

Antenatal bartter syndrome: a review.

Antenatal Bartter syndrome (ABS) is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the loop of Henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. Early onset, unexplained maternal polyhydramnios often challenges the treating obstetrician.

Isolated bilateral severe fetal hydrothorax: complete resolution following a single postnatal thoracocentesis.

Isolated pleural effusion is a rare condition in a fetus or neonate with high mortality. When there are no other findings of hydrops fetalis or documented etiology such as inflammatory, iatrogenic or cardiac problems exist, isolated pleural effusion is considered. Timely diagnosis and management not only avoids mortality but also results in excellent prognosis.

Subdural effusion complicating neonatal meningitis: successful treatment with acetazolamide.

Postmeningitis subdural effusion is rare in neonates when compared to infants and children. For treatment, various modalities are described. Serial subdural punctures and surgical drain placement are advised for cases having a mass effect on imaging.

Neonatal thrombocytopenia associated with maternal pregnancy induced hypertension.

Objective: To evaluate the prevalence of thrombocytopenia in neonates born to mothers with pregnancy induced hypertension (PIH) and identify the associated material and neonatal characteristics.

Methods: In the current, prospective study, platelet counts were assessed serially. Maternal and neonatal characteristic were recorded in pre-designed proforma.

Transcutaneous bilirubin in predicting hyperbilirubinemia in term neonates.

Objective: To assess the utility of 24 and 48 hours transcutaneous bilirubin (TcB) index for predicting subsequent significant hyperbilirubinemia in healthy term neonates.

Methods: TcB indices were obtained for healthy, breastfed, term AGA newborns at 24 +/- 2, 48 +/- 2 and subsequently at intervals of 24 hours. Neonates with illness, on treatment and positive Direct Coomb's test were excluded.

Glomerulocystic disease: a severe form in a monozygous twin.

One of monozygous twins presented with anuria from birth and was diagnosed on renal biopsy with glomerulocystic kidney disease. There was no associated congenital or hereditary disorder. The other twin was normal and ultrasonography of the renal tracts of both infants was normal.

Renal subcapsular abscess.

An 18-day-old neonate presented with fever and abdominal distension. Renal subcapsular abscess was diagnosed with sonography and CT scan. Percutaneous drainage resulted in aspiration of 20 mL of pus, which grew Staphylococcus aureus.