Lowe Syndrome (Oculo-cerebro-renal Syndrome of Lowe): A Case Report from Eastern India

Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a rare X-linked recessive metabolic disorder that primarily affects eyes, kidneys and brain. It is caused by the deficiency of enzyme phosphatidylinositol 4, 5-bisphosphate 5-phosphatase. The gene coding for this enzyme, OCRL1 and mutations in it are responsible to cause Lowe Syndrome. We report a 6 years old boy from Eastern India, with Lowe Syndrome. Diagnosis was suggested by typical features in the MRI of the brain along with other clinical feature and investigation

Assessment of modifiable risk factors for acute lower Respiratory tract infections in under-five children

Background: Acute lower respiratory tract infection (ALRTI) continues to be the biggest killer worldwide of children under 5 years of age. Objective: The objective of this study is to identify and assess the modifiable risk factors for ALRTI in children under 5 years of age. Materials and Methods: This prospective case–control study was conducted in the pediatrics department of a tertiary care pediatric hospital. A sample size of 106 cases and 106 controls were selected. A detailed general and systemic examination (including respiratory and heart rate measurements, anthropometry, and nutritional assessment) along with the routine hematologicalinvestigations and chest X rays was done in both cases and controls. Other specific investigations were done as per requirement in individual cases, and all the cases were treated as per the standard protocol depending on the type of ALRTI. Chi-square-test was used and p<0.05 was taken as statistically significant. Results: Statistically significant risk factors identified with increased incidence of ALRTI included incomplete immunization for age, low socioeconomic status, families having more than two under-five children at home, family history of moking, respiratory infections, overcrowding, use of biomass as fuel for cooking, lack of ventilation, not having separate kitchen, low birth weight, pre-lacteal feeding, lack of exclusive breastfeeding for 4–6 months, malnutrition, and anemia. Conclusion: The present study identifies various significant risk factors for severe pneumonia in under-five children

Relative importance of inflammatory markers (erythrocyte sedimentation rate, C-reactive protein, procalcitonin, and interleukins-6) in neonatal sepsis

Objective: Early diagnosis and treatment decreases the mortality and morbidity of neonatal sepsis(NS). The aim of this study was to find out the level of different inflammatory markers in neonatal sepsis. Methods: Forty two term neonates with non-sepsis (n = 17), clinical (n = 10) and proven (n = 15) sepsis were evaluated. Blood cultures were obtained and ESR, CRP, procalcitonin, IL-6 levels were measured. Statistical analysis was performed to look for association between NS and different inflammatory markers and to compare the strength of association among the markers. Findings: Among the 42 neonates, CRP level was found to be elevated in 27 neonates, ESR in 22 neonates, both procalcitonoin and IL-6 in 24 neonates respectively. Both sensitivity and specificity of procalcitonin and IL-6 were high compare to CRP. Conclusions: Blood culture significantly increases the proven sepsis status among neonates with suspected sepsis. ESR is a poor predictor of NS. Newer inflammatory markers namely procalcitonin and IL-6 were found to have greater value than CRP, but not ESR

An Atypical Presentation of Wegener's Granulomatosis in a Child

Wegener`s granulomatosis is an autoimmune small vessel necrotising vasculitis associated with both granulomatosis and polyangiitis. While its standard form involves the upper and lower respiratory tracts and kidneys, it may essentially involve any organ. We report a case of a 14 year old girl, admitted with fever, cough, haemoptysis, nose bleeds and following admission developed hoarseness of voice.There was anemia, elevated CRP. Chest X-ray and HRCT chest showed a cavitary consolidation of left upper lobe of the lung. In view of respiratory symptoms, fever, haemoptysis and radiological ndings, the child was started on antitubercular therapy to which she did not respond. Subsequently she developed features of nephtitis and Wegener`s granulomatosis was suspected and conrmed by renal biopsy and positive c-ANCA. She was treated with steroids and cyclophosphamide to which she responded dramatically in our institution. We should suspect Wegener`s granulomatosis in any child presenting with respiratory symptoms, nose bleeds and symptoms of nephritis. Presence of cough, haemoptysis, and fever with obvious consolidation with cavitations may not always be tuberculosis

Conflict of Interest - Serious Issue on Publication Ethics for Indian Medical Journals

Background: There are several vested interest lies on research publication hence the editorial policy is the sole important factor to control and regulate ethical publications in medical sciences especially on ‘conflict of interest’ issue. Aim: the study was aimed to assess on awareness of ‘conflict of interest’ issue in medical research and publication among the editorial staff, peer reviewers and authors of Indian medical journals. Methods: 61 authors who have published research articles recently in Indian medical journals (2008-2012), 56 peer reviewers who reviewed the manuscripts during same period and 35 editorial board members of various Indian medical journals were assessed by questionnaire and telephone interview regarding their understanding and knowledge on ‘conflict of interest’ issue for ethical publication. Results: Only 12% of the authors knew about the ‘conflict of interest’ issue and 19% of the medical authors have just heard about it! Out of 12% of authors who knew ‘conflict of interest’ issue only 5% provided that statement to the journals. Among the peer reviewers only 30% knew about ‘conflict of interest’ of which 91.5% stated that they do not bother about this issue while reviewing the manuscripts! But interestingly 75% of the peer reviewers confessed that they had a bias on the topics written by their friends or students! Among the editorial board members of Indian medical journals only 25% have any idea on ‘conflict of interest issue’. Conclusions: Results clearly shows poor understanding of ‘conflict of interest’ like important ethical issue among Indian medical scientists or journals. Keywords: authors; conflict of Interest; editorial members; peer reviewers; Indian Medical Journals

Correlation between transcutaneous bilirubin estimation and total serum bilirubin estimation in neonatal hyperbilirubinemia

AIMS: To determine the efficacy of measuring the transcutaneous bilirubin as a screening tool for clinically significant hyperbilirubinaemia in Indian infants. MATERIALS AND METHODS: A cohort of 100 neonates who have clinical jaundice, admitted in NICU of Institute of Child Health, Kolkata from March 2014 to Jan 2015, were included in the study. Both the total serum bilirubin and transcutaneous bilirubin were measured for the above group. Inclusion criteria was neonates who had clinical jaundice and required extimation of serum bilirubin. Exclusion criteria was neonates who would receive phototherapy and/or exchange transfusion. STATISTICAL ANALYSIS: Software used was SPSS. RESULTS: 59 male and 41 female neonates were enrolled. A strong agreement was found between Total serum bilirubin and Transcutaneous bilirubin values. Mean gestational age was 34.91 weeks with a mean birth weight of 2492.2 gms.Mean age at the time of measurement was 86.13 hours. CONCLUSION: The above strong agreement between TSB and TCB was same in the term population as well as the whole population. The results of this study supports Transcutaneous bilirubin as an effective screening tool for estimation of neonatal hyperbilirubinaemia in Indian infants

Congenital rubella syndrome surveillance in India, 2016–21: Analysis of five years surveillance data

Background: In India, facility-based surveillance for congenital rubella syndrome (CRS) was initiated in 2016 to estimate the burden and monitor the progress made in rubella control. We analyzed the surveillance data for 2016–2021 from 14 sentinel sites to describe the epidemiology of CRS. Method: We analyzed the surveillance data to describe the distribution of suspected and laboratory confirmed CRS patients by time, place and person characteristics. We compared clinical signs of laboratory confirmed CRS and discarded case-patients to find independent predictors of CRS using logistic regression analysis and developed a risk prediction model. Results: During 2016–21, surveillance sites enrolled 3940 suspected CRS case-patients (Age 3.5 months, SD: 3.5). About one-fifth (n = 813, 20.6%) were enrolled during newborn examination. Of the suspected CRS patients, 493 (12.5%) had laboratory evidence of rubella infection. The proportion of laboratory confirmed CRS cases declined from 26% in 2017 to 8.7% in 2021. Laboratory confirmed patients had higher odds of having hearing impairment (Odds ratio [OR] = 9.5, 95% confidence interval [CI]: 5.6–16.2), cataract (OR = 7.8, 95% CI: 5.4–11.2), pigmentary retinopathy (OR = 6.7, 95 CI: 3.3–13.6), structural heart defect with hearing impairment (OR = 3.8, 95% CI: 1.2–12.2) and glaucoma (OR = 3.1, 95% CI: 1.2–8.1). Nomogram, along with a web version, was developed. Conclusions: Rubella continues to be a significant public health issue in India. The declining trend of test positivity among suspected CRS case-patients needs to be monitored through continued surveillance in these sentinel sites