Genomic and computational analysis of four novel variants of MPL gene in Congenital Amegakaryocytic Thrombocytopenia.

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, genetic, autosomal recessive disorder characterized by severe thrombocytopenia, due to inefficient bone marrow megakaryopoiesis eventually leading to aplasia. Majority of the cases are due to homozygous or compound heterozygous mutations in MPL gene encoding for thrombopoietin (THPO) receptor protein. CAMT can be diagnosed at early phase of life, with major complication of transfusion dependency and hematopoietic transplantation as only curative treatment.

A novel gut microbiome-immune axis influencing pathology in HCMV infected infants with neonatal cholestasis.

The interplay of active HCMV infection with gut dysbiosis in the immunopathology of cholestasis in neonates and infants remains unexplored. In this study, we evaluated gut microbiome profiles and immune dysfunction in a cohort of HCMV infected cholestatic infants (IgM positive, N = 21; IgM negative, N = 25) compared to healthy infants, N = 10. HCMV infected IgM positive individuals exhibited increased clinical severity in terms of liver dysfunction, altered CD4: CD8 ratio, and elevated Granzyme B levels in cellular immune subsets.

Monogenic inborn errors of immunity in autoimmune disorders.

To estimate the prevalence of monogenic inborn errors of immunity in patients with autoimmune diseases (AID), the study included 56 subjects (male:female ratio: 1.07) with mean age of onset of autoimmunity 7 years (4 months-46 years). 21/56 had polyautoimmunity.

Poliovirus surveillance in patients with primary immunodeficiencies, India.

Individuals with primary immunodeficiencies who are infected with vaccine-derived polioviruses may continue to shed poliovirus for months and go undetected by surveillance programmes of acute flaccid paralysis. These patients therefore pose a risk of initiating poliovirus outbreaks that jeopardize efforts towards global polio eradication. To identify these individuals, we designed a study protocol for the establishment of a network for surveillance of immunodeficiency-related vaccine-derived poliovirus in India.

Clival and Paraclival Lesions: A Pictorial Review.

The clivus is a midline anatomical structure in the central skull base. It is affected by a wide range of non-neoplastic, benign and malignant pathologies, some of which typically affect the clivus because of its strategic location and embryological origins. Clival lesions may often be asymptomatic with occasional complaints like headache or cranial neuropathy in few.

Clinical, immunological and molecular findings of patients with DOCK-8 deficiency from India.

DOCK8 deficiency affects various cell subsets belonging to both the innate and adaptive immune systems. Clinical diagnosis is challenging, as many cases present with severe atopic dermatitis as the only initial manifestation. Though flow cytometry helps in the presumptive diagnosis of DOCK8-deficient patients by evaluating their DOCK8 protein expression, it requires subsequent confirmation by molecular genetic analysis.

Viewpoints from the National Consultation on Addressing Acute Malnutrition on Mainstreaming Community-Based Program for Management of Acute Malnutrition in India.

High burden of acute malnutrition among children less than 5 years is a major public health problem in India. A "Two-days National Consultation on Addressing Acute Malnutrition" was organized to gather experiences and evidence from 13 states of India on prevention and management of acute malnutrition among children and documenting viewpoints from experts and government counterparts on the same. The consultation centered around five key themes of addressing acute malnutrition; 1) capacity building, 2) strengthening screening, 3) nutritional care of wasting, 4) tracking progress, and 5) scale-up.

Treatment of Umbilical Granuloma in Infants With Topical Application of Common Salt: A Scoping Review.

Background: Common salt is a safe, effective and cheap home-made remedy for umbilical granuloma. The aim of this scoping review is to identify and summarize the available evidence and examine the research conducted on salt treatment for umbilical granuloma.

Methods: A literature search was performed in the second week of September, 2022 using Google scholar, PubMed, MEDLINE and EMBASE databases using the keywords 'umbilical granuloma' and 'salt treatment' to identify all English articles pertaining to salt treatment for umbilical granuloma.

Narsoplimab for severe transplant-associated thrombotic microangiopathy.

Background: Transplantation-associated thrombotic microangiopathy (TA-TMA) is an endothelial injury syndrome linked to the overactivation of complement pathways. It manifests with microangiopathic hemolytic anemia, consumptive thrombocytopenia, and microvascular thrombosis leading to ischemic tissue injury. Mannose residues on fungi and viruses activate the mannose-binding lectin complement pathway, and hence activation of the lectin pathway could be one of the reasons for triggering TA-TMA.

A Prospective, Multicenter Study of Developmental Dysplasia of the Hip: What Can Patients Expect After Open Reduction?

Background: Although there are several predominantly single-center case series in the literature, relatively little prospectively collected data exist regarding the outcomes of open hip reduction (OR) for infantile developmental dysplasia of the hip (DDH). The purpose of this prospective, multi-center study was to determine the outcomes after OR in a diverse patient population.

Methods: The prospectively collected database of an international multicenter study group was queried for all patients treated with OR for DDH.

Intestinal Pseudo-Obstruction - An Under-Recognized Presentation of Systemic Lupus Erythematosus.

Intestinal pseudo-obstruction (IPO), characterized by obstruction without an identifiable anatomic cause, is a rare and poorly understood entity that may occur as a primary condition or secondary to other autoimmune disorders such as systemic lupus erythematosus (SLE). A12-year-old female child was brought with abdominal distension, vomiting, and fever for 15 days. Examination showed height and weight less than the third centile for age, tachypnea, tachycardia, and hypertension with severe abdominal distension, copious bilious aspirate, and very sluggish bowel sounds.

The Impact of Living with Clubfoot on Children and Their Families: Perspectives from Two Cultural Environments.

Purpose: To study the physical, emotional and social impact of clubfoot on the lives of affected children and their families.

Methods: A purposive sample of children with treated idiopathic clubfoot and their parents was recruited from two geographical locations-the United Kingdom (UK) and India. Children were divided into age groups of 5-7 and 8-11 years.

Neurological and Neuroradiological Patterns with COVID-19 Infection in Children: A Single Institutional Study.

 Varied neurological manifestations in pediatric patients with coronavirus disease 2019 (COVID-19) have been increasingly reported from all across the world in the scientific literature.  We aimed to evaluate pediatric cases with neurological symptoms and neuroimaging findings with COVID-19 infection in our hospital.  Children from 0 to 12 years with laboratory evidence of COVID-19 infection and acute neurological manifestations within 3 months, who have undergone magnetic resonance imaging (MRI) were included in the study.

Global estimates and determinants of antituberculosis drug pharmacokinetics in children and adolescents: a systematic review and individual patient data meta-analysis.

Background: Suboptimal exposure to antituberculosis (anti-TB) drugs has been associated with unfavourable treatment outcomes. We aimed to investigate estimates and determinants of first-line anti-TB drug pharmacokinetics in children and adolescents at a global level.

Methods: We systematically searched MEDLINE, Embase and Web of Science (1990-2021) for pharmacokinetic studies of first-line anti-TB drugs in children and adolescents.

Pediatric Acute Respiratory Distress Syndrome in India: Time for Collaborative Study?

Solomon R. Pediatric Acute Respiratory Distress Syndrome in India: Time for Collaborative Study? Indian J Crit Care Med 2022;26(8):896-897.

SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency.

The energy metabolism of myeloid cells depends primarily on glycolysis. 1,5-Anhydroglucitol (1,5AG), a natural monosaccharide, is erroneously phosphorylated by glucose-phosphorylating enzymes to produce 1,5-anhydroglucitol-6-phosphate (1,5AG6P), a powerful inhibitor of hexokinases. The endoplasmic reticulum transporter (SLC37A4/G6PT) and the phosphatase G6PC3 cooperate to dephosphorylate 1,5AG6P.

Care Practices of Indian Pediatricians for the Screening and Diagnosis of Developmental Dysplasia of the Hip.

Pediatricians play a key role in identifying neonates with hip instability or at risk for developmental dysplasia of the hip (DDH); however, the clinical practices related to screening and further management in India are unknown. A web-based survey was circulated to members of the National Neonatology Forum of India (NNFI). Of the 231 eligible responses, about 92% were from an urban setup.

Subacute Sclerosing Panencephalitis (SSPE): Experience from a Tertiary-Care Pediatric Center.

 Subacute sclerosing panencephalitis (SSPE) is a devastating neurodegenerative disease occurring as a complication of measles infection that is still prevalent in low-resource countries. Clinical and electrographical variability in SSPE can lead to diagnostic delays.  Children diagnosed with SSPE in a tertiary care pediatric hospital in India in a period of 8 years were included in the study.

Role of Cinacalcet in Treating Cardiac Dysfunction Secondary to Hyperparathyroidism: A Case Series.

Cardiovascular disease is a leading cause of death in children with chronic kidney disease (CKD). A strong correlation exists between disturbed calcium-phosphate metabolism and cardiac dysfunction. Studies with use of cinacalcet in CKD are few and limited to older children and adults and in improving growth and bone deformities.

Surveillance for Developmental Dysplasia of the Hip in India: Consensus Guidelines From the Pediatric Orthopaedic Society of India, Indian Academy of Pediatrics, National Neonatology Forum of India, Indian Radiological and Imaging Association, Indian Federation of Ultrasound in Medicine and Biology, Federation of Obstetric and Gynaecological Societies of India, and Indian Orthopaedic Association.

Justification: When developmental dysplasia of the hip (DDH) is diagnosed during infancy, conservative management is often successful, with good long-term outcomes. In India, DDH is often not diagnosed until walking age and there are limited guidelines for its screening.

Process: A multidisciplinary Expert Group consisting of members of the Paediatric Orthopaedic Society of India, Indian Academy of Pediatrics, National Neonatology Forum of India, Indian Radiological and Imaging Association, Indian Federation of Ultrasound in Medicine and Biology, Federation of Obstetric and Gynaecological Societies of India, and Indian Orthopaedic Association worked collaboratively to develop surveillance guidelines for DDH.