High Frequency Oscillatory Ventilation (HFOV) and Inhaled Nitric Oxide (iNO) Use During Neonatal Emergency Transport - Feasibility and Efficacy in India.

A retrospective study of 24 neonates to evaluate the feasibility and efficacy of high frequency oscillatory ventilation (HFOV) and inhaled nitric oxide (iNO) for transferring critically ill neonates to tertiary neonatal intensive care, who were transported by road ambulance was done. Efficacy was measured by clinical improvement, patient safety was assessed by comparing cardiorespiratory indicators before and after transport, and adverse events during transport. Significant oxygenation improvement was observed in neonates transported with HFOV ± iNO compared to earlier ventilator settings.

Aicardi-Goutières syndrome (AGS): recurrent fetal cardiomyopathy and pseudo-TORCH syndrome.

Aicardi-Goutières syndrome (AGS) induces innate immune activation. It can present with cerebral calcifications and hepatosplenomegaly mimicking congenital infections. The present case report discusses the diagnosis and treatment of a case of fetal cardiomyopathy whose postnatal symptoms resembled TORCH (toxoplasmosis, other agents, rubella, cytomegalovirus, herpes and syphilis) infection.

Diagnostic and Therapeutic Roles of the "Omics" in Hypoxic-Ischemic Encephalopathy in Neonates.

Perinatal asphyxia and neonatal encephalopathy remain major causes of neonatal mortality, despite the improved availability of diagnostic and therapeutic tools, contributing to neurological and intellectual disabilities worldwide. An approach using a combination of clinical data, neuroimaging, and biochemical parameters is the current strategy towards the improved diagnosis and prognosis of the outcome in neonatal hypoxic-ischemic encephalopathy (HIE) using bioengineering methods. Traditional biomarkers are of little use in this multifactorial and variable phenotype-presenting clinical condition.

Cow's milk protein allergy in a neonate presenting with methaemoglobinaemia.

Cow's milk protein allergy (CMPA) is the most common food allergy in infants. A previously healthy neonate fed with infant formula presented diarrhoea, vomiting and respiratory distress with cyanosis. Investigations showed thrombocytosis and leucocytosis with lymphocyte predominance.

Human Milk-Derived Fortifier as Rescue Therapy in Very Preterm Infants Intolerant to Cow's Milk-Derived Fortifier.

This was a retrospective, descriptive study where human milk-derived fortifier (HMDF) was used to rescue infants intolerant to cow's milk-derived fortifier (CMDF). Rescue therapy was used for newborns with feed intolerance, systemic symptoms, or thrombocytosis. In a total of 412 very preterm infants (gestational age ≤ 32 wk) admitted to NICU during the study period, 14 infants met the rescue protocol inclusion criteria.

Hypoventilation and progressive encephalopathy in a neonate with MTHFR deficiency.

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive inherited inborn error of metabolism, which presents with various severity depending on the level of residual enzyme activity. In neonates, it can present with recurrent hypoventilation episodes, persistent encephalopathy with or without microcephaly. MTHFR deficiency also results in hyperhomocysteinemia, homocystinuria and hypomethionemia.

Sirolimus in infants with congenital hyperinsulinism (CHI) - a single-centre experience.

Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in neonates and infants. Medical treatment includes the use of high concentrations of glucose and combinations of diazoxide, octreotide and glucagon. We report our experience of using sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, in the treatment of CHI in seven newborns who are poorly responding to standard medical therapy.

Thiamine-Responsive Acute Pulmonary Hypertension of Early Infancy (TRAPHEI)-A Case Series and Clinical Review.

Persistent pulmonary hypertension of the newborn (PPHN) is a syndrome of high pulmonary vascular resistance (PVR) commonly seen all over the world in the immediate newborn period. Several case reports from India have recently described severe pulmonary hypertension among infants in the postneonatal period. These cases typically present with respiratory distress in 1-6-month-old infants, breastfed by mothers on a polished rice-based diet.

Recent approaches in clinical applications of 3D printing in neonates and pediatrics.

Neonates and pediatric populations are vulnerable subjects in terms of health. Proper screening and early optimal treatment would reduce infant and child mortality, improving the quality of life. Researchers and clinicians all over the world are in pursuit of innovations to improve the medical care delivery system.

Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis.

Background: Hyperammonemia and hyperlactatemia in neonates and young children with non-specific biochemical markers poses a diagnostic challenge. An accurate diagnosis is essential for effective management.

Case Reports: We present three infants from unrelated families, one with infantile and two with neonatal hyperammonemic encephalopathy, hypoglycaemia, and hyperlactatemia.