Pediatric Renal Rickets at a Tertiary Center.

We report clinical and etiological profile of 19 children (10 males) with renal rickets managed in the years 2021-2022. Median (IQR) age of presentation was 60 (18-96) months. The commonest cause was renal tubular acidosis (n=8). Genetic analysis revealed the diagnosis in 83% subjects (5 out of 6 tested).

Clinical, biochemical and outcome profile of dengue fever in hospitalised children in Eastern Uttar Pradesh, India.

Dengue fever is an important cause of acute febrile illness in the postmonsoon season in India. This study was done to record the incidence of dengue in admitted patients with acute febrile illness in a hospital setting. The study also intends to record the clinical, biochemical and outcome profile of paediatric dengue cases admitted in tertiary centres in Eastern Uttar Pradesh, India. It was a prospective case record analysis at a tertiary care research hospital in Eastern Uttar Pradesh. The study recruited fifty-53 children (<18 years) with serology-proven diagnosis of dengue disease. Disease was confirmed by doing Ns1Ag, IgM antibody test by ELISA method. Six hundred children were screened and 53 met the inclusion criteria. The incidence of dengue disease in hospitalised acute febrile illness was 8.8%. There were thirty-one males. The mean age of presentation of the study population was 9.32 ± 5 years with a range of 0.25 - 17 years. Fever (94%), nausea and vomiting (59 %), abdominal pain (55%), persistent vomiting (49%), thrombocytopenia (<100,000 [66%]), and petechiae and purpura (43%) were the important clinical manifestations. Six required intensive care monitoring. There was only one death. Dengue fever is an important cause of acute febrile illness in children. Case fatality rate can be minimised with proper World Health Organisation classification and protocol-based management of cases.

Molecular Study of Childhood Steroid-Resistant Nephrotic Syndrome: A Hospital-Based Study.

Steroid-resistant nephrotic syndrome (SRNS) patients with genetic mutations most commonly have histology of focal segmental glomerulosclerosis (FSGS) and do not respond to immunosuppressive drugs. We report the molecular screening results of 18 pediatric SRNS cases presented to our nephrology clinic. Three pathogenic variants have been detected, two previously reported and one novel variant. The reported pathogenic variants have been detected in NPHS1 and NPHS2 genes. A novel pathogenic variant has been detected in the inverted formin 2 gene ( INF2 ) gene. We did not detect any variant of the WT1 gene. There were 13 males. Mean age of study participants at enrollment was 69 months. There were 12 cases of primary SRNS. The mean duration from onset of symptoms to SRNS diagnosis was 13 months. FSGS and minimal change disease (MCD) were present in the same number of cases. The response rate (complete or partial) to immunosuppressive drugs was seen in only one patient in the genetic SRNS group ( n = 3), while the response rate in nongenetic cases ( n = 15) was 80%. Two nonresponders in the genetic SRNS group had FSGS for histopathology and pathogenic variants (NPHS2 and INF2). The other three nonresponders in the nongenetic SRNS group had both FSGS ( n = 1) and MCD ( n = 2) histopathology. There were two deaths in the study cohort of the nongenetic SRNS group. This study highlights the screening of the SRNS cohort by a panel of extended genes rather focussing on the three most common genes ( NPHS1 , NPHS2 , and WT1 ). This further confirms the molecular etiology of SRNS in three cases and extends the list of pathogenic variants of genetic SRNS in the North Indian population. This is the first study in the eastern part of Uttar Pradesh in India.

Scrub typhus: A rare cause of secondary nephrotic syndrome.

Scrub typhus is an important etiological agent in acute febrile illness in the post-monsoon season in tropical countries. It leads to dreaded complications if left untreated. Acute kidney injury is one such complication. Malaria, syphilis, and HIV have been associated with secondary nephrotic syndrome in pediatric age group. Scrub typhus has been reported only once with nephrotic syndrome. We report a case of scrub typhus-associated nephrotic syndrome with acute kidney injury in a five-year-old female with uneventful outcome.

Clinical Profile and Outcome of COVID-19 Among Immunocompromised Children.

This retrospective study describes the clinical profile, risk of infection and outcome of coronavirus disease-19 in immuno-compromised children. It was found that children on immuno-suppressant medication has 2.89 times increased risk of infection (P=0.01). Disease manifestation was asymptomatic (P=0.01) or mild with predominant gastrointestinal symptoms (P=0.02) without alteration in immunosuppressive treatment regime.

Steroid Sensitive Nephrotic Syndrome: Revised Guidelines.

JUSTIFICATION: Steroid sensitive nephrotic syndrome (SSNS) is one of the most common chronic kidney diseases in children. These guidelines update the existing Indian Society of Pediatric Nephrology recommendations on its management. OBJECTIVE: To frame revised guidelines on diagnosis, evaluation, management and supportive care of patients with the illness. PROCESS: The guidelines combine evidence-based recommendations and expert opinion. Formulation of key questions was followed by review of literature and evaluation of evidence by experts in two face-to-face meetings. RECOMMENDATIONS: The initial statements provide advice for evaluation at onset and follow up and indications for kidney biopsy. Subsequent statements provide recommendations for management of the first episode of illness and of disease relapses. Recommendations on the use of immunosuppressive strategies in patients with frequent relapses and steroid dependence are accompanied by suggestions for step-wise approach and plan of monitoring. Guidance is also provided regarding the management of common complications including edema, hypovolemia and serious infections. Advice on immunization and transition of care is given. The revised guideline is intended to improve the management and outcomes of patients with SSNS, and provide directions for future research.

Thyroid function in patients with idiopathic nephrotic syndrome.

BACKGROUND: Albumin is the major protein excreted in urine in patients with nephrotic syndrome (NS). However, low-molecular-weight proteins including some binding proteins are also excreted. Thyroid hormone and its binding globulins are excreted in urine in excess in nephrotic syndrome. Therefore, it has been postulated that patients with nephrotic syndrome may show hypothyroidism, subclinical or overt. METHODS: In this prospective observational study, patients of idiopathic nephrotic syndrome aged 1-40 years of both gender were included. Serum T3, T4 and TSH were assayed at diagnosis and repeated at 12 weeks or at remission whichever was earlier. Renal biopsy was performed as required. RESULTS: Among 100 patients taken for analysis (42 children, 58 adult), 30 cases were of first episode, 40 were of frequent relapse/steroid-dependent NS, and 30 patients had steroid-resistant NS (SRNS). Three (3%) cases had overt hypothyroidism and 18 (18%) patients had subclinical hypothyroidism. Most hypothyroid cases belonged to SRNS subgroup. Mean Serum T3, T4 and TSH values showed significant improvement in remission in comparison to nephrosis state (P < 0.01). Serum TSH had significant positive correlation (r = 0.391, P < 0.01) with 24-h proteinuria and negative correlation with serum albumin (r = - 0.303, P < 0.01) in nephrosis. CONCLUSION: Hypothyroidism is common among nephrotic syndrome patients especially in SRNS subgroup. Therefore, routine screening is recommended in steroid-resistant nephrotic syndrome patients.

Ultrafiltered biopulping strategy for the production of good quality pulp and paper from sugarcane bagasse.

This research was carried out with an objective to examine the efficacy of ultrafiltered xylano-pectinolytic enzymes in pulping of sugarcane bagasse. Maximum biopulping was achieved with enzyme dose of xylanase (175 IU / g bagasse) and pectinase (75 IU / g bagasse) at treatment period of 180 min. The temperature, pH, and bagasse to liquid ratio for biopulping experiments were kept constant at 55o C, 8.5, and 1:10 (g/ml), respectively. The ultrafiltered biopulping improved chemical pulping, resulted in 25.11%, 9.17% increase in brightness, unscreened pulp production and 11.81, 59.50, and 49.14% decrease in total solids, rejections. and kappa number, respectively. The bagasse biopulping also resulted in 15% decrease of alkali load to attain similar kappa number and optical properties as obtained under 100% alkali dosage. Ultrafiltered biopulped-unbleached samples showed significant increase in breaking length (13.55%), burst index (40.21%), tear index (19.04%), double fold (42.5%), Gurley porosity (28.21%) and viscosity (13.37%) in comparison with non-enzymatically treated control pulp samples. In comparison with non biotreated-bleached pulp samples, ultrafiltered biopulped-bleached samples also resulted in higher burst index (56.80%), breaking length (17.38%), double fold (39.58%), tear index (3.38%), viscosity (30.68%), and Gurley porosity (52.50%). This environmentally sustainable ultrafiltered biopulping approach for sugarcane bagasse has the potential to decrease the demand of chemicals, ultimately pollution along with enhance the quality of paper.

Eco-friendly pulping of wheat straw using crude xylano-pectinolytic concoction for manufacturing good quality paper.

In this study, suitability of xylano-pectinolytic enzymes in pulping of wheat straw has been explored. The suitable biopulping conditions were optimized, with xylanase dose of 400 and pectinase dose of 120 IU/g wheat straw, 1:10 (g/ml) material to liquid ratio, 55 °C temperature, 3 h treatment time, 0.75% Tween 80 and pH 8.5. Enzymatic pretreatment efficiently increased the pulpability of wheat straw, generated pulp with higher yield, lower kappa number (15.67%) and rejections (59.65%) in comparison with chemical pulp. The brightness of pretreated wheat straw pulp with enzyme was 16.04% higher than that of the non-enzyme treated wheat straw pulp. The biopulping resulted in 12% reduction of pulping chemicals along with more residual alkali content, in order to achieve similar optical and chemical properties as obtained by 100% chemically treated pulp. Physical properties of pulp also improved after enzymatic pretreatment, increasing burst index (26.50%), tear index (18.22%) and breaking length (5.56%). The enzyme plus chemical (88% pulping chemicals) treated pulp showed improvement in brightness and whiteness, with reduction in yellowness at all bleaching stages. In comparison with chemically bleached pulp, biopulp with reduced alkali dose (88%) had higher breaking length (6.63%), double fold number (51.28%), tear index (2.83%), burst index (24.31%), along with increased viscosity (6.12%) and Gurley porosity (27.50%). These results clearly suggest that biopulping of wheat straw with xylano-pectinolytic enzymes can reduce chemical loading during soda-anthraquinone pulping and also improve the quality of paper. This is the first report demonstrating the biopulping of wheat straw using crude xylano-pectinolytic enzymes.

Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis.

Lysosomal storage disorders (LSDs) are relatively common slow progressive inborn error of metabolism encountered by clinicians. This work intends to highlight the more common LSDs, their clinical presentation, outcome, and mutation (wherever feasible) collected from the genetic clinic at tertiary care center in Eastern Uttar Pradesh. The data for analysis were collected retrospectively from genetic records from a follow-up clinic. All cases < 18 years of age were analyzed. Cases with LSDs with confirmed enzyme results were enrolled in this study. Clinical profile, screening test results, and outcome were collected. There were 32 cases including 27 males and 5 females in this cohort: 8 Gaucher disease (GD) patient and 24 non-GD patients. GD (type 1) is the commonest LSD in GD group. Anemia, thrombocytopenia, splenomegaly, and hepatomegaly were the consistent finding in patients with GD (type 1). L483P mutation was reported in two GD patients. One GD patient is on enzyme replacement therapy for 2 years and is currently doing well. The commonest disorders in non-GD were mucopolysaccharidosis (MPS) ( n = 11), metachromatic leukodystrophy ( n = 4), I-cell disease ( n = 3), Niemann-Pick A/B ( n = 3). MPS-II is the commonest MPS among non-GD group.

Spectrum of Disproportionate Short Stature at a Tertiary-care Center in Northern India.

Forty cases with disproportionate short stature (median age 3.1 y; 24 males) from genetic clinic of Lok Nayak Hospital, Delhi were assessed in this study. Achondroplasia was the commonest (n=9) skeletal dysplasia; conclusive diagnosis was not possible in six children. Molecular confirmation of clinicoradiological phenotype was done in 18 of 40 cases. Genetic study of all achondroplasia cases revealed c. 1138 G>A, p. Gly380Arg mutation in hot spot.

I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis.

Mucopolysaccharidosis (MPS) and Mucolipidosis (ML) share common phenotypes (coarse facial features, organomegaly, dysostosis multiplex) despite having different molecular basis. Thus, they pose great diagnostic challenge to treating clinicians. Differentiating between the two conditions requires a battery of tests from screening to molecular diagnosis. Besides discussing differential diagnosis of MPS like features with negative urinary Glycosaminoglycans (GAG), the authors also discuss the utility of p-nitrocatechol sulphate based chemical test as an important screening tool, besides establishing molecular basis in index case.