Clinical characteristics & severity profile of children with COVID-19 during the second wave pandemic: An experience from tertiary care hospital in Mumbai.

This retrospective observational study was aimed at defining the demographic and clinical characteristics as well as severity profile of COVID-19 disease in children admitted to dedicated COVID-19 tertiary care hospital in Mumbai, India, during the second wave. COVID-19 infection detected in children (1 month-12 years) by the rapid antigen test or reverse transcriptase polymerase chain reaction or TRUENAT from March 1 to July 31, 2021 on throat/nasopharyngeal samples were enrolled and their clinical features and outcomes were studied. During the study period, 77 children with COVID-19 infection were admitted, of whom two-third (59.7%) were <5 yr old. The common presenting symptom was fever (77%), followed by respiratory distress. Comorbidities were noted in 34 (44.2%) children. Most of the patients belonged to the mild severity category (41.55%). While 25.97 per cent of patients presented in severe category and 19.48 per cent were asymptomatic. Admission to intensive care was needed in 20 (25.9%) patients, with 13 patients needing invasive ventilation. Nine patients succumbed while 68 were discharged. The results might help understand the course, severity profile and outcomes of the second wave of the COVID-19 pandemic in the paediatric population.

A case of Ehlers-Danlos syndrome presenting as short stature: a novel mutation in SLC39A13 causing spondylodysplastic Ehlers-Danlos syndrome.

Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by a varying degree of skin hyperextensibility and joint hypermobility. EDS is classified into 13 subtypes according to the most recent classification. These subtypes are clinically and genetically heterogenous. The spondylodysplastic subvariety of EDS (spEDS) is caused by homozygous mutations in B4GALT7, B3GALT6 and SLC39A13. To date, 13 individuals with molecularly diagnosed SLC39A13-related spEDS have been reported. The spEDS caused by biallelic pathogenic SLC39A13 variants are characterized by short stature, protuberant eyes with bluish sclera, finely wrinkled palms, hypermobile joints, hyperextensible skin and characteristic radiological findings. Herein, we report a case of 7-year-old-female child with spEDS associated with novel homozygous (pathogenic/likely pathogenic) missense variation of the SLC39A13 gene.

Different presentation of autoimmune hepatitis in children: Case series.

Autoimmune hepatitis (AIH) is a disorder causing chronic hepatic inflammation. Its clinical presentation is highly variable from the affected child might have only biochemical evidence of liver dysfunction or present in hepatic failure. It is important to distinguish AIH from other forms of chronic hepatitis because a high percentage of cases respond to immunosuppressive therapy. In this article, we describe the clinical presentation, biochemical and histological findings, treatment, and clinical outcome of the four children with AIH in a tertiary care center in Mumbai. Most patients with AIH have high levels of immunoglobulin. All four cases showed high serum Ig G levels and responded to oral prednisolone only. AIH should be excluded for all patients with symptoms or signs of prolonged, relapsing, or severe liver disease so that treatment can be promptly initiated and morbidity can be reduced.

Effectiveness of Supramaximal Angiotensin-converting Enzyme Inhibition in Controlling Proteinuria in Congenital Nephrotic Syndrome with Cytomegalovirus Infection and an NPHS1 Mutation.

Congenital nephrotic syndrome (NS) is characterized by early-onset heavy proteinuria. Most cases of congenital NS are associated with genetic mutations in the podocyte proteins. The causal relationship of perinatal infections with congenital NS has not yet been proven. Inadequate response to the treatment of such infections should prompt us to conduct genetic testing for congenital NS. The heavy proteinuria associated with congenital NS is usually difficult to control with conventional treatment. It often results in progressive kidney disease with a high risk of mortality in early life. Here, we describe an infant who developed congenital NS and was found to have a coexisting Cytomegalovirus infection and an underlying NPSH1 mutation. Proteinuria did not respond to a standard dose of enalapril. A supramaximal dose of enalapril was tried and was effective and safe in controlling the proteinuria. It was associated with improved growth, complete resolution of edema, normal serum albumin, and normal renal function beyond 2 years of age.

A Rare Case of Salmonella meningitis and Hemophagocytic Lymphohistiocytosis.

Enteric fever is a common infectious disease of the tropical world. Common age group involved is children aged between 5 and 10 years. In addition to diarrhea, it may lead to extraintestinal infections including aseptic meningitis, hepatitis, cholecystitis, acute abdomen, intestinal perforation, pneumonia, psychosis, and ataxia. Hematologic complications leading to hemophagocytosis have a prevalence of < 1%. Salmonella meningitis has an incidence of 6% with poor prognosis neurological sequelae. We report a rare case of enteric fever that presented with hemophagocytic syndrome and S. meningitis. Response to third-generation cephalosporins is dramatic, eventually giving good prognosis.

Non-interference of Bovine-Human reassortant pentavalent rotavirus vaccine ROTASIIL® with the immunogenicity of infant vaccines in comparison with a licensed rotavirus vaccine.

BACKGROUND: A newly developed bovine-human reassortant pentavalent vaccine (BRV-PV, ROTASIIL®) was tested for its potential effect on the immunogenicity of concomitantly administered EPI vaccines in infants in a randomized controlled study in India. METHODS: In this Phase III, multicenter, open label, randomized, controlled study, three doses of BRV-PV or two doses of Rotarix® and one dose of placebo were given to healthy infants at 6, 10, and 14 weeks of age. Subjects also received three doses of DTwP-HepB-Hib (diphtheria, tetanus, whole-cell pertussis, hepatitis B, and haemophilus influenzae type b conjugate - pentavalent vaccine) and oral polio vaccine concomitantly at 6, 10, and 14 weeks of age and a single dose of inactivated polio vaccine at 14 weeks of age. Blood samples were collected four weeks after the final vaccination to assess immune responses to all the vaccines administered. For diphtheria, tetanus, hepatitis B, Hib, polio type 1, and polio type 3 antibodies, non-interference was to be supported if the lower limit of the two-sided 90% confidence interval (CI) for the seroprotection rate difference for the BRV-PV group minus the Rotarix® group was >10.0%. For pertussis antibodies, non-interference was to be supported if the lower limit of the two-sided 90% CI for the ratio of geometric mean concentrations (GMCs) was >0.5. RESULTS: A total of 1500 infants were randomized to either BRV-PV (1125 infants) or Rotarix® (375 infants), of which 1341 completed the study as per the protocol. More than 97% of subjects achieved seroprotective antibody titres against diphtheria, tetanus, hepatitis B, Hib, polio type 1, and polio type 3 in both groups. The difference in seroprotection rates between the BRV-PV group and the Rotarix® group for all these antibodies was less than 1%. The ratio of GMCs of anti-pertussis IgG concentrations for the BRV-PV group versus Rotarix® was 1.04 [90% CI: 0.90; 1.19]. CONCLUSION: BRV-PV does not interfere with the immunogenicity of concomitantly administered routine infants vaccines.

A Phase III open-label, randomized, active controlled clinical study to assess safety, immunogenicity and lot-to-lot consistency of a bovine-human reassortant pentavalent rotavirus vaccine in Indian infants.

BACKGROUND: A heat-stable bovine-human rotavirus reassortant pentavalent vaccine (BRV-PV, ROTASIIL®) was developed in India. In this study, the vaccine was tested for safety, immunogenicity and clinical lot-to-lot consistency. METHODS: This was a Phase III, open label, randomized, equivalence design study. The primary objective was to demonstrate lot-to-lot consistency of BRV-PV. Subjects were randomized into four arms, three arms received Lots A, B, and C of BRV-PV and the control arm, received Rotarix®. Three doses of BRV-PV or two doses of Rotarix® and one dose of placebo were given at 6, 10, and 14 weeks of age. Blood samples were collected four weeks after the third dose to assess rotavirus IgA antibody levels. The three lots of BRV-PV were equivalent if the 95% Confidence Intervals (CIs) of the geometric mean concentration (GMC) ratios were between 0.5 and 2. Solicited reactions were collected by using diary cards. RESULTS: The study was conducted in 1500 randomized infants, of which 1341 infants completed the study. The IgA GMC ratios among the three lots were around 1 (Lot A versus Lot B: 1.07; Lot A versus Lot C: 1.06; and Lot B versus Lot C: 0.99). The 95% CIs for the GMC ratios were between 0.78 and 1.36. The IgA GMCs were: BRV-PV group 19.16 (95% CI 17.37-21.14) and Rotarix® group 10.92 (95% CI 9.36-12.74) (GMC ratio 1.75; 90% CI 1.51-2.04). Seropositivity rates were 46.98% (95% CI 43.86-50.11) and 31.12% (95% CI 26.17-36.41). The incidence of solicited reactions was comparable across the four arms. No serious adverse events were associated with the study vaccines, except two gastroenteritis events in the BRV-PV groups. CONCLUSION: Lot-to-lot consistency of BRV-PV was demonstrated in terms of GMC ratios of IgA antibodies. The vaccine safety and immunogenicity profiles were similar to those of Rotarix®. Clinical Trials.Gov [NCT02584816] and Clinical Trial Registry of India [CTRI/2015/07/006034].

A Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report.

Acute Intermittent Porphyria (AIP) usually presents with abdominal pain, peripheral neuropathy and psychiatric manifestations. Incidence of AIP being 5 in 1,00,000. We present a case of an 11-year-old male child with multiple cranial nerve involvement, quadriparesis, focal convulsions, hypertension, hyponatremia with history of recurrent abdominal pain. His complete haemogram, ultrasonography (USG) abdomen, renal function tests were normal, he was also evaluated for tuberculosis which was negative. On further evaluation Electroencephalography (EEG) was suggestive of a generalised seizure disorder, MRI Brain suggestive of Posterior Reversible Encephalopathy Syndrome (PRES), Electromyography revealed a sensory motor axonal polyneuropathy and urine UV fluoresence test was positive for porphobilinogen which clinched the diagnosis of AIP.