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Background: Hypertensive disorders during pregnancy pose significant risks to both maternal and fetal health. Maternal hypertension has the potential to affect all the systems of the newborn, including the hematological system. Objective: To identify deviations in hematological parameters and birth outcomes in babies born to mothers with hypertensive disorders of pregnancy. Materials and Methods: An observational case–control study was carried out on neonates born to hypertensive mothers in Niloufer Hospital, Hyderabad, India. The study was done over 18-month period from January 2021 to August 2022. The cases comprised babies born to mothers with hypertensive disorders of pregnancy, while controls were babies of normotensive mothers. The hematological parameters measured included hemoglobin (Hb) level, platelet count, mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV), and white blood cell (WBC) count. Results: The neonates of hypertensive mothers had significantly lower levels of Hb (P = 0.02), WBC (P = 0.001), MCH (P = 0.01), and MCHC (P = 0.004). Also, platelet counts were significantly lower among neonates of hypertensive mothers (P = 0.001). They also had significantly lower birth weights than the controls (P = 0.01). Conclusion: This study pinpointed substantial changes in the hematological profile and birth outcomes of neonates born to mothers with hypertensive disorder of pregnancy. These findings underscored the importance of considering these alterations when interpreting hematological values in these infants, necessitating early detection and comprehensive healthcare strategies for neonates at high risk in India. Future research should consider the long-term outcomes of these hematological parameters to elevate the understanding and guide interventions.

Background and Objective: Niemann-Pick type C is a rare lysosomal storage disorder causing cholesterol intracellular transport deficiency. Typically found in children, it causes neurological deterioration and age-related symptoms. In this article, two cases of Niemann-Pick type C1 with cholestasis and another case with a compound heterozygous mutation that included Niemann-Pick type D are presented. Although neonatal diseases are the most common cause of early cholestasis, this report emphasizes the importance of considering storage disease in cholestasis. Case Report: A 34-day-old female baby born to a third-degree married couple at 38 weeks gestation presented with cholestatic jaundice. Whole-exome sequencing suggested an NPC1 gene mutation and Niemann-Pick type C. A 35-day-old female baby born at 39 weeks gestation presented with ecchymotic patches, decreased feed acceptance, greenish discoloration of the eyes, high-color urine, and firm hepatosplenomegaly. The child was worked up for conjugated hyperbilirubinemia and a liver biopsy in favor of Niemann-Pick disease. Whole exome sequencing showed an NPC1 gene heterozygous mutation, suggesting Niemann-Pick disease types C and D. Conclusion: Pediatricians should consider Niemann-Pick disease in neonates with persistent cholestasis. [ABSTRACT FROM AUTHOR]

Background and Objective: Previously, the coincidence of two different disease phenotypes in a single patient was considered to be a new phenotype or a phenotypic extension of a single known disease. However, with the advent of whole exome sequencing, it has become clear that in many cases it is a new phenotype or phenotypic extension. This case report represents a blended phenotype of Marfan and Larsen syndrome. Up to the time of reporting this case, we could not find a similar case in the sources. Case Report: A full-term male infant delivered vaginally by a primi-mother in a non-consanguineous marriage was transferred to the intensive care unit because of respiratory distress, meningomyelocele and dysmorphism. On clinical examination, the baby had a heart murmur. The baby required oxygen support but no pressure. We slowly weaned off oxygen and gradually started feeding. An ultrasound and echocardiography were performed to rule out malformations. Using molecular and next-generation exome sequencing techniques, the infant was found to have heterozygous variations of the FBN1 gene c.6094A>T p. Thr2032Ser (depth -36x), a novel variant, and the FLNB gene c.2956C>Tp.Arg986Trp (depth -48x), suggesting for neonatal Marfan syndrome (nMFS) and Larsen syndrome phenotype, which was compatible with the phenotypic findings of the neonate. Unfortunately, the infant died because of sepsis and aspiration. Conclusion: In extremely rare cases, there may be more than one syndrome. Under these circumstances, the prognosis is grim, as usual. When the syndromic phenotype varies, advanced genetic testing is preferred. [ABSTRACT FROM AUTHOR]

Introduction: On March, 2020, the World Health Organisation (WHO) declared COVID-19 a pandemic caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). In adults it causes mild to severe infections, but in children it usually causes asymptomatic or mild illness. Being a new pandemic, it is prudent to analyse the clinical profile, laboratory parameters and severity interpreters in children to formulate optimal management protocols. Aim: To determine the clinical and laboratory profile of children hospitalised for Severe Acute Respiratory Infections (SARI) and to evaluate the correlation between clinical severity and laboratory parameters-C-Reactive Protein (CRP), Neutrophil to Lymphocyte Ratio (NLR) and thrombocytopenia. Materials and Methods: The present study was a prospective observational study which was undertaken for the duration of seven months from 1st April to 30th November 2020. The study included children aged 1 month to 12 years with the criteria of SARI and who were Coronavirus Disease-2019 (COVID-19) positive. Test parameters such as Complete Blood Count (CBC), CRP, serum electrolytes and kidney function tests were performed at local laboratory as per standard guidelines. The correlation of laboratory parameters (thrombocytopenia, CRP and NLR) with disease severity was done with Pearson's Rho correlation coefficient. Chi-square test was used for statistical analysis. Results: A total of 118 (10.2%) children were tested positive for COVID-19, 71 (60.17%) were boys and 47 (39.83%) were girls. The commonest clinical symptoms were fever and tachypnea. Gastrointestinal symptoms were found in 54 (45.76%) of the cases. Myocarditis and shock were noticed in 10 (8.47%) children. In 25 (59.52%) of severe COVID-19 cases, NLR was >3.5 and 18 (42.86%) had thrombocytopenia. Seventeen children died of the disease with a mortality rate of 14.41%. Platelet count and NLR ratios were significantly correlated with disease severity (p≤0.05). Conclusion: Markers such as NLR and thrombocytopenia which can be used efficiently to assess the severity even in low resource settings, are relevant to a developing country like India. The ratio of neutrophils to lymphocytes can be used as a prognostic marker in resource-constrained settings. [ABSTRACT FROM AUTHOR]

Introduction : Haemoglobinopathies include a group of inherited, chronic haemolytic anaemias which are transfusion dependent. Haemolytic Anaemia is a public health problem and has a high prevalence in Asian countries. Cardiac morbidity and mortality are burdens of these disorders as a result of chronic anaemia and iron overload despite iron chelation therapy. For this reason, it is recommended that regular cardiac evaluation should be done for all patients with haemoglobinopathies. Aim: To study the clinical and laboratory profile of haemoglobinopathies and, the cardiac complications in transfusion-dependent patients by conventional echocardiography. Materials and Methods: This hospital-based, cross-sectional observational study was conducted in Department of Paediatrics at Niloufer Hospital, Hyderabad, Telangana, India, from 2020 March to 2022 February. Diagnosis confirmed clinically or by Laboratory including 2D Echocardiography (ECHO). Variable measures are demographic data of the child, clinical features, laboratory changes, and 2D ECHO changes. Continued variables (quantitative) were analysed calculating mean and standard deviation and performing T-test or Mann-Whitney's test. results: The mean age of children with haemoglobinopathy was 4.8±2.86 years. Patients with serum ferritin >1000 mg/dL had more than 10 transfusions per year in 33 cases. The 2D ECHO was abnormal in 65% of patients, among these 61% of patients showed increased Left Ventricular (LV) mass/m2 in ECHO, and 39% had normal LV mass/m2. The mean ejection fraction in the patients was 64.82%. Pulmonary hypertension was seen in 25% of patients and 42 patients had mild tricuspid regurgitation. conclusion: There is a possibility of reducing the disease burden by health education and avoiding parental consanguinity as almost half of the patients have parental consanguinity. Serial echocardiography is recommended to screen for early discoveries of cardiac abnormalities in asymptomatic children and timely initiation of appropriate therapy. [ABSTRACT FROM AUTHOR]

Background:Dengue is a febrile illness that is a major cause of morbidity and mortality throughout the tropical and subtropical regions. Vitamin D3 was also reported to influence the ex-pression of DENV receptors in immune cells. Few studies have also discussed the role of Vitamin D in reducing the severity of Dengue fever.Material and Methods:The study was conducted at Niloufer hospital, Hyderabad. A Cross-sectional study from November 2019-november 2021.Data were analyzed using Microsoft Excel 2010 and Epi Info 7.2.0.Results:The overall mean of Serum Vitamin D level was 18.58 ng/ml. The mean of Serum Vit-amin D level was 20.38 ng/ml, 16.92 ng/ml. 11 ng/ml, as per increasing severity. With a P-value of 0.0000005, the difference between the mean of Serum Vitamin D levels according to the grading of Dengue Fever was statistically significant.Conclusion:As serum Vitamin D levels decreased, dengue illness severity increased, and the associ-ation between the two was statistically significant. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the effect of therapeutic hypothermia on myocardial dysfunction in term neonates with perinatal asphyxia.Material and Methods: This randomized controlled trial (RCT) conducted in a tertiary care teaching hospital, south India included 120 newborns with perinatal asphyxia that were randomized to two groups (therapeutic hypothermia and normothermia). Cardiac enzyme profile changes between groups were assessed at 0, 24, 72 h CPK-MB and troponin I levels were estimated by immune inhibition and quantitative immunochromatography methods, respectively. Electrocardiography (ECG) and Echocardiography (ECHO) were done at 0 and 72 h to evaluate the cardiac function and pulmonary hypertension. Neurodevelopment was assessed at 6 months of age in both groups using Developmental Assessment Scales for Indian Infants.Results: The median values of CPK-MB in the normothermia and hypothermia groups at 0, 24, and 72 h were 198, 127, and 92 IU/L and 202, 111 and 64 IU/L, respectively. The median values of troponin I in normothermia and hypothermia groups at 0, 24, and 72 hrs were 2.45, 1.53, and 0.9 ng/mL and 1.97, 0.93, and 0.01 ng/mL, respectively. ECG and ECHO findings also suggest lesser myocardial dysfunction in therapeutic hypothermia group compared with the normothermia group.Conclusions: Therapeutic hypothermia significantly decreases the myocardial damage in term asphyxiated neonates. [ABSTRACT FROM AUTHOR]