Search

Systemic primary carnitine deficiency (PCD) is an autosomal recessive disorder caused by mutations in the SLC22A5 gene that encodes carnitine transporter, OCTN2. Transporter deficiency leads to defective fatty acid oxidation. Signs and symptoms ranging from liver injury in children to cardiomyopathy and skeletal myopathy in adults, manifest during periods of stress and fasting. Though acute liver failure is infrequently described, young children presenting as acute liver failure should be screened for fatty acid oxidation defects including PCD by testing plasma for amino acids and further confirmed by genetic sequencing. Early identification and treatment using L-carnitine is lifesaving. Our patient presented as acute liver failure and diagnosis of PCD was confirmed by metabolic screening and genetic sequencing. He responded to the treatment.

Liver transplantation (LT) has emerged as the best therapeutic modality for end-stage liver disease in pediatric autoimmune liver disease (AILD). We aimed to describe our experience of pediatric living donor liver transplantation for AILD from India over a period of 10 years. We did a retrospective analysis of 244 liver transplants at our center over the last 10 years to identify children with AILD (18 years or younger). We aimed to describe the demographic features, clinical profile, graft survival, patient outcome, and predictors of mortality in our cohort. Between July 2010 and May 2020, 13 liver transplants were performed for AILD out of total 244 children transplanted over the last 10 years at our center. Mean (standard deviation [SD]) age at LT was 12 (± 3.84) years. Leading indications for LT were decompensated liver disease (61.5%), acute-on-chronic liver failure (23.1%), acute liver failure (ALF) (7.7%), and recurrent cholangitis and growth failure (7.7%). Mean Pediatric End-stage Liver Disease (PELD) score/model for end-stage liver disease (MELD) score and international normalized ratio (INR) (SD) at presentation were 24 (± 12.81) and 2.48 (± 1.54), respectively. Median discharge duration was 23 days (interquartile range [IQR] 21-36 days). 30.7% (4/13) of the subjects had no postoperative complications. Diarrhea (15.3%), pneumonia (7.7%), jejunostomy site bleed (7.7%), tacrolimus toxicity (7.7%), and vascular complications (7.7%) were seen, which resolved with satisfactory graft function. Three subjects died post-LT; causes of death included sepsis (n=3), renal dysfunction (n=1), and pneumonia (n=1). Others have been well on follow-up with no graft rejection or need for re-transplantation. Overall, 1-year and 5-year patient survival rates were 76.9% and 70%, respectively. Lower platelet count, autoimmune hepatitis (AIH) 2, and PELD/MELD score were found to be significant predictors of mortality on univariate analysis, which were not significant on multivariate modelling. The complications, graft and patient survival rates in our experience were quite encouraging, and are comparable with the best centers worldwide. After instituting appropriate treatment, early referral of such patients to an equipped center should be facilitated.

The objective of the study is to estimate the incidence of acute liver failure (ALF) in dengue infection, understand the demographic and biochemical profiles, and identify prognostic factors associated with mortality.This is a retrospective observational study. We evaluated the data of all pediatric dengue patients admitted over the last 5 years in our hospital to identify patients who fulfilled the criteria for pediatric ALF (PALF). Demographic profile, and biochemical and radiological parameters were assessed. Their outcomes and mortality data were analyzed to identify prognostic factors.Thirty children with dengue infection were identified to have developed a during the ALF study period which was 29.1% (30/103) of all our ALF admissions. Total of 189 children with dengue infection needed admission during the same period and 15.8% (30/189) of them developed ALF. The mean duration of onset of ALF was 5.4 days after fever onset. Twenty-two patients (73%) survived, and 8 patients expired. High creatinine, low albumin level, and multisystemic involvement were identified as poor prognostic markers in those patients who did not survive.ALF is common in admitted severe dengue patients. A significant proportion of acute liver patients in endemic countries can be attributed to dengue infection. Low serum albumin, high creatinine, and multiorgan dysfunction during acute illness can be used as prognostic markers in these children. Multicentric prospective studies are needed to validate these results.

Background Quality and patient safety are the driving forces for resilient healthcare organizations. However, the healthcare leadership is central to the role of establishing the values of quality and patient safety in the organization. This task becomes extremely challenging when the safety culture has to be built across a large hospital network. Methods A comprehensive patient safety program, the Apollo Quality Program(AQP), structured in the form of a patient-safety dashboard was used as a tool to establish and strengthen the fabric of quality and safety across a large hospital network in India. The dashboard consisted of essential patient safety parameters that were measurable and objective. This dashboard was implemented across 41-hospitals of the network and improvement data monitored. These 41-hospitals varied in size and on basis of their bed strength they were categorized into 3 groups(A,B and C). For this study, the results have been presented from 2011 to 2021. Results The overall AQP scores improved indicating holistic enhancement of patient safety across Apollo Hospitals. Sustained progress, through the last nine years, was observed for various patient safety parameters in the AQP dashboard, across 41-hospitals of the network. Conclusion AQP is an innovative methodology that incorporates all the essential tenets of patient-safety. The programme led to a progressive improvement in patient-safety over the nine-years of its implementation. The enhancement was visible through compliance to the various parameters of AQP. The AQP empowered the leadership to retrospect and analyse each of their units’ performance for patient-safety and quality in systematic manner.

IPVS is considered a last resort or a salvage procedure in the event of recurrent PV thrombosis despite multiple attempts at redo PV anastomosis. We employed the opened umbilical vein approach to place the stent in the PV and deliver anticoagulation through a catheter.From Jan 2017 to Feb 2022, 150 patients underwent pediatric transplantation at department of liver transplant and hepatobiliary surgery unit, Indraprastha Apollo hospitals, New Delhi. Age, weight, PELD Score, diagnosis, portal vein diameter on preoperative CT, Portal flow after stenting, decrease in spleen size after stenting in follow-up CT were collected from a prospectively maintained data base and reviewed.Eight patients underwent IPVS following LDLT (mean age-10.6 ± 2.2 months, mean weight 8.1 ± 1.6, mean PELD score 32.7 ± 7.3). The mean PV diameter on preoperative CT scan was 3.6 mm (range 2.7-5.6 mm). The mean portal flow following stenting was 718.75 cc/min. Percentage reduction in size of the spleen was 26.35% beyond 2nd post-operative week. No patient had recurrent PV thrombosis following IPVS and all maintained an adequate portal flow throughout the immediate postoperative period. Two patients had in-hospital mortality secondary to septic complications.Umbilical vein approach is technically feasible, easy to manipulate the stent and catheter placement after stenting helps to deliver anticoagulants locally.

Objectives: The COVID-19 pandemic has severely impacted health-care delivery globally, especially for non-COVID diseases. These cases received suboptimal attention and care during the pandemic. In this observational cohort study, we have studied the impact of the COVID-19 pandemic on various aspects of medical and surgical practices. Material and Methods: This observational, cross-sectional cohort study was performed on the data of a 710 bedded, multispecialty, and tertiary care corporate hospital of the national capital of India. The data of the pandemic period (April 1, 2020–March 31, 2021) were divided into three main groups and were then compared with the patient data of the preceding non-pandemic year (April 1, 2019–March 31, 2020) of more than six hundred thousand cases. Results: From the data of 677,237 cases in these 2 years, we found a significant effect of COVID-19 pandemic on most spheres of clinical practice (P < 0.05), including outpatient attendance and surgical work. The specialties providing critical and emergency care were less affected. Although the total hospital admissions reduced by 34.07%, these were not statistically significant (P = 0.506), as the number of COVID-19 admissions took place during this time and compensated for the drop. Conclusion: The COVID-19 pandemic has significantly impacted health-care delivery to non-COVID cases across all the major medical and surgical specialties. Still, major urgent surgical and interventional work for cases was undertaken with due precautions, without waiting for the ongoing pandemic to end, as the delay in their treatment could have been catastrophic.

Septic thrombophlebitis of the portal vein or pylephlebitis is a rare cause of morbidity and mortality in children. The common causes include infective intra-abdominal pathology (acute appendicitis or diverticulitis) or inflammatory conditions (acute pancreatitis and inflammatory bowel disease). Management involves a multidisciplinary team approach for favorable outcome. We present a case report of pylephlebitis secondary to perforated appendicitis with incomplete resolution of thrombosis.

Hemophagocytic lymphohistiocytosis (HLH) is a rare, multisystem, potentially fatal clinicopathologic syndrome. HLH presenting predominantly as pediatric acute liver failure (PALF) has been rarely reported. Early recognition is imperative to initiate life-saving treatment but is often hampered due to the rarity of this syndrome, variable clinical presentations, and nonspecific clinical and laboratory findings. In this article, we reported a case of secondary HLH (H1N1 and RSV positive) presenting as PALF from India. A previously healthy 22-month-old boy presented with fever, vomiting, and altered sensorium for 10 days. He had coagulopathy and deranged liver functions. He was evaluated for underlying etiology and managed on lines of PALF. Due to persistent bicytopenia and excessively high ferritin levels, HLH was strongly suspected though he did not fulfill all clinical criteria for the diagnosis of HLH. Presence of seizures and cerebrospinal fluid analysis was suggestive of central nervous system involvement. There was no evidence of primary HLH on genetic evaluation. Real-time polymerase chain reaction amplifications were positive for RSV and influenza A H1N1, confirming the causative triggers. After the administration of immunosuppressants and oseltamivir, the patient's symptoms improved dramatically and he recovered completely. To the best of our knowledge, this is the fourth case reported worldwide till date of successful rescue of ALF in a child associated with HLH completely without resorting to liver transplantation. Clinical vigilance is crucial for possible presence of HLH with varied initial presentations in PALF despite incomplete diagnostic criteria, with detailed etiological workup for commencing life-saving therapy in time.

Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a type of fatty acid oxidation disorder in which long chain fatty acids cannot be transported into mitochondria for further processing and storage in our body. Typically, the patients present with lethargy, hypoglycemia, and raised serum transaminase levels before 2 years of age. Cholestatic jaundice as manifestation of this deficiency has been reported rarely; here, we report an adolescent male with CPT1A deficiency who developed prolonged cholestatic jaundice following a febrile illness.

Background: Progressive familial intrahepatic cholestasis (PFIC) is a group of heterogeneous autosomal recessive disorders attributed to hepatocellular cholestasis, characterized by low serum γ-glutamyl transferase (GGT) levels due to mutation in ATP8B1. Case Presentation: We present a case of 2-year-old male child who experienced persistent marked pruritus, jaundice, and failure to thrive since 3 months of age. He was diagnosed as PFIC on the basis of histology, biochemical, and clinical finding. On genetic analysis by next generation sequencing, a novel homozygous missense variation in exon 19 of the ATP8B1 gene [chr18:g.55335672C>T; Depth: 71x] resulting in the amino acid substitution of Glutamic acid for Glycine at codon 733 [p.Gly733Glu;ENST00000536015.1], which was confirmed by sanger sequencing of parents. Conclusion: We report a case of PFIC type 1 with a novel homozygous missense variation in exon 19 of the ATP8B1 gene with both mother and father as heterozygous carrier. Further confirmation of this variant in ATP8B1 mutation will occur by identification of similar phenotypes with similar mutation.

In tropical countries, like India, various types of infectious diseases like tuberculosis, enteric fever, malaria and dengue are prevalent. Disease trend over time has been gradually shifting from infective to inflammatory frame because of increasing awareness regarding hygiene and increasing immunisation coverage. This case report describes an adolescent boy having a long history of abdominal pain, bleeding per rectum and documented weight loss, presented with an acute episode of fever. But the coexisting infections and/or inflammatory conditions presented challenges to the treating physician in diagnosis and management despite of good clinical experience. In this case, a chronic gastrointestinal infection caused byMycobacterium tuberculosiswith a superadded Salmonella typhi infection was masquerading as inflammatory bowel disease (Crohn’s disease). Utmost caution should be exercised to reach the correct diagnosis and take the necessary steps to manage this type of situation in tropical countries like India.

Bile acid synthetic disorders are rare inborn errors of metabolism, and presentations include neonatal cholestasis, neurological disease or deficiency of fat-soluble vitamins. Affected patients fail to produce standard bile acids but accumulate unusual bile acids and intermediates, resulting in liver failure and complications. Most of them improve with bile acid supplementation, but delaying initiating treatment is detrimental to the outcome.A young child presented to us with recurrent episodes of acute liver failure. In the first episode, both coagulopathy and encephalopathy improved on supportive treatment, but the aetiological evaluation was inconclusive. During the second presentation, whole-exome sequencing was sent, identifying a compound heterozygous novel mutation in the 3-β-hydroxysteroid dehydrogenase type 7 gene leading to bile acid synthetic defect.

Wilson disease (WD) is a disorder of copper metabolism resulting in accumulation of copper in vital organs of the human body, predominantly in the liver and the brain. Acute liver failure in WD has a bad prognosis, especially with a score ≥11 in the revised WD prognostic index; emergency liver transplantation is considered the only life-saving option in this scenario. Here, we reported a girl patient with WD-induced liver failure and poor prognostic score who was rescued by plasmapheresis. She also manifested severe Coombs negative hemolytic anemia and acute kidney injury. This case report highlights the utility of an adjunctive modality besides liver transplantation for the management of fulminant liver failure caused by WD.

How the Apollo Hospitals Group handled the intense spike of Covid-19 cases in India, and what they’ve learned from the thousands of families they’ve treated., Summary “When it comes to the pandemic, we’re going to have to address the issue of human resource exhaustion,” says the Group Medical Director of Apollo Hospitals Group in India. He describes how Apollo has been mitigating the Covid-19 crisis and handling burnout, the importance of collaboration and the sharing of needed resources such as oxygen, and the treatment of everyone as family.

Glycogen storage diseases are a group of heterogeneous metabolic disorders that result from a defect in enzymatic pathway of either glycogen synthesis or glycogen degradation. Here we are reporting a case of glycogen storage diseases type 1 with renal stone as initial manifestation of disease at 2 months of age. There were case reports of recurrent renal calculi in older age group with this disease and considered to be arisen due to metabolic derangements. Although the exact mechanism of renal stones in glycogen storage disease is not clear, in this unique case occurrence of renal stones at 2 months of age suggests that the pathogenesis of renal calculi is probably multifactorial or a part of disease.

Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive disorders of childhood which presents with intermittent or progressive episodes of cholestasis, with jaundice and pruritus as most common presenting symptoms. PFIC type 3 occurs due to mutations in the ABCB4 gene, mutation in this gene has wide spectrum of features which include intrahepatic stones, cholelithiasis, PFIC type 3, and intrahepatic cholestasis of pregnancy. Here, we are reporting a peculiar case of young male adolescent with novel variant compound heterozygote missense mutation in ABCB4 gene who had gall stone as initial symptom, followed by symptoms of PFIC and eventually decompensated chronic liver disease.

To ascertain the knowledge, awareness, and practices pertaining to celiac disease (CD) among the Indian pediatricians. A survey link containing a questionnaire was shared through electronic mail using a pediatric database. The survey was kept active for 6 months; all responses received at the end of the survey were analyzed. Two hundred and seventy one pediatricians out of more than 10,000 chose to respond to the survey. Most pediatricians agreed that more patients with CD are being diagnosed than earlier. The reasons for higher detection of CD were perceived to be higher index of clinical suspicion by pediatricians (86.7%) followed by increased awareness among parents (45.8%). Most pediatricians opined that clinical manifestations which prompted to a diagnosis of CD were failure to thrive (96.2%) and chronic diarrhea (81.4%). Knowledge about atypical manifestations of celiac disease was low. Though knowledge about the common association of CD with type 1 diabetes (62.1%) and autoimmune hepatitis (55.8%) was there, awareness about its association with other uncommon conditions was lacking. Though 68% of the pediatricians were of the opinion that the confirmation of diagnosis by a mucosal biopsy is necessary, 26.5% of respondents believed that only a positive serology was sufficient for a diagnosis. A trial of gluten-free diet (GFD) was thought to be a logical step if serology was positive by 31.3% of respondents. While 87.7% of pediatricians advocated lifelong adherence to GFD, 12.3% felt that GFD could be discontinued in the future. This web-based survey revealed that though pediatricians are seeing increasing number of celiac disease patients, there is a need to increase awareness regarding the disease, its associated conditions, the need for mucosal biopsy to confirm the diagnosis and the necessity of lifelong adherence to GFD.

Context Time to detection (TTD) given by continuous monitoring automated blood culture systems (CMABS) have been found to be a predictor of clinical outcome, drug resistance and type of microorganism in cases of bacteremia but the studies evaluating TTD with respect to fungemia are scarce especially from India. Aims To evaluate TTD for yeast isolates in fungal bloodstream infections with respect to the type of yeast isolates, risk factors and outcome and to study yeast susceptibility and distribution of yeast isolates with respect to patient population. Materials and methods All blood culture specimens were processed in CMABS. The TTD for yeast isolates were recorded. The identification of yeast and susceptibility testing was done by automated methods. A correlation of TTD was done with respect to prior/concurrent yeast isolates, use of antifungal, risk factors and clinical outcome. Results Out of 80 yeast isolates, the maximum was C. parapsilosis (26.25%) followed by C. albicans (16.25%) and C. tropicalis (13.75%). A statistically significant difference in the occurrence of yeasts with early TTD (TTD < = 48 hours) and late TTD (TTD > 48 hours) was found. TTD of C. glabrata was significantly longer (p = 0.002) while TTD of C. tropicalis was significantly shorter (p = 0.013). There was an observable favorable outcome in shorter TTD (< = 48 hours). C. albicans and C. tropicalis depicted 100% susceptibility for Azoles, Amphotericin B and Echinocandins. Conclusion TTD may be used as both diagnostic and prognostic adjunct in fungal bloodstream infections. This study is a step towards this novel approach. We also emphasize on the importance of speciation of yeast isolates and susceptibility testing. How to cite this article Butta H, Sardana R, Mendiratta L, Sibal A, Gupta V, Chawla R, Jafri AA. Time to Detection of Yeast Isolates in Pediatric and Adult Patients with Fungemia and its Relevance to Clinical Profile and Outcome. Indian Journal of Critical Care Medicine, January 2019;23(1):27-30.

Clinical practice guidelines for Wilson's disease (WD) have been published by the American Association for the Study of Liver Diseases and European Association for the Study of the Liver in 2008 and 2012, respectively. Their focus was on the hepatic aspects of the disease. Recently, a position paper on pediatric WD was published by the European Society of Pediatric Gastroenterology Hepatology and Nutrition. A need was felt to harmonize guidelines for the hepatic, pediatric, and neurological aspects of the disease and contextualize them to the resource-constrained settings. Therefore, experts from national societies from India representing 3 disciplines, hepatology (Indian National Association for Study of the Liver), pediatric hepatology (Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition), and neurology (Movement Disorders Society of India) got together to evolve fresh guidelines. A literature search on retrospective and prospective studies of WD using MEDLINE (PubMed) was performed. Members voted on each recommendation, using the nominal voting technique. The Grades of Recommendation, Assessment, Development and Evaluation system was used to determine the quality of evidence. Questions related to diagnostic tests, scoring system, and its modification to a version suitable for resource-constrained settings were posed. While ceruloplasmin and 24-h urine copper continue to be important, there is little role of serum copper and penicillamine challenge test in the diagnostic algorithm. A new scoring system – Modified Leipzig score has been suggested with extra points being added for family history and serum ceruloplasmin lower than 5 mg/dl. Liver dry copper estimation and penicillamine challenge test have been removed from the scoring system. Differences in pharmacological approach to neurological and hepatic disease and global monitoring scales have been included. Rising bilirubin and worsening encephalopathy are suggested as indicators predicting need for liver transplant but need to be validated. The clinical practice guidelines provide recommendations for a comprehensive management of WD which will be of value to all specialties.

The Ehlers–Danlos' syndrome (EDS) constitutes a group of connective tissue disorders that are clinically and genetically heterogeneous. Mutations in the TNXB gene have been recognized as pathogenic causing classical-like EDS due to tenascin-X deficiency. Here, we have reported a unique case of compound heterozygous mutation in TNXB gene leading to esophageal stricture and scarred skin in a 7-year-old boy who presented to us with impacted foreign body in esophagus. The child was also having tendency to atrophic skin scarring secondary to trivial trauma.

Background: The healthcare workers (HCWs) have been on the frontline in combating the pandemic and were prioritized for vaccination when COVID-19 vaccines became available. Although vaccines effectively prevent infection in most cases, some cases of post-vaccination infections have been reported, raising concerns about vaccine efficacy. This study investigated the efficacy of COVID-19 vaccines in preventing and reducing the severity of post-vaccination infections (PVI) among HCWs. Methods: This observational study examined 28342 vaccinated HCWs with SARS-CoV-2 (symptomatic severe acute respiratory syndrome coronavirus 2) infections during the initial five months of vaccination (January 16-June 15, 2021). They worked at 43 Apollo Group hospitals in 24 Indian cities. PVI was investigated after recombinant ChAdOx nCOV-19 (Recombinant) or the whole virion inactivated Vero cell vaccines were administered. Various parameters were evaluated such as age, sex, time to infection, type of vaccine, infections after a single and two doses, monthly and regional case distribution, clinical severity of infection, hospitalization and intensive care unit (ICU) requirement, and death. Findings: Symptomatic PVIs occurred in a low percentage of vaccinated cohorts (5⸱07%, p 50 years significantly contracted more infections(p

Liver transplantation in India has grown exponentially in the last decade with 135 centers now performing between 1500-2000 transplants a year, 10% of which are pediatric. Survival rate surpassing 90% has been achieved, and India is now an important regional liver transplant hub in South and South-East Asia. The indications have expanded to include increasing number of liver-based metabolic disorders that may or may not cause liver disease. Recipients, who were previously considered non-transplantable such as those with pre-existing portal vein thrombosis, can be successfully managed with innovative microvascular techniques. The donor pool has grown with the use of marginal grafts and ABO incompatible organs. Financial constraints are being overcome by crowd funding and increasing philanthropic efforts.

Protein-losing enteropathy entails an excessive loss of proteins in intestinal tract due to underlying primary or secondary pathologies. It is suspected in patients with chronic diarrhoea and peripheral oedema. Faecal alpha 1 antitrypsin clearance is the gold standard for diagnosis. Treatment includes a high-protein fat-modified diet, and replacements for micronutrients, electrolytes and vitamin deficiencies. Prognosis is variable depending on the underlying cause.

Cow's milk protein allergy (CMPA) is increasingly being diagnosed in the West, while there is scant data on the subject from India. There is low awareness among pediatricians about its diagnosis and management; leading to improper diagnosis.A group of experts from the pediatric gastroenterology sub-specialty chapter of Indian Academy of Pediatrics (Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition) met at Mumbai on 26 October, 2018 and discussed various issues relating to the subject. A broad consensus was reached and a writing committee was formed. They met again on 11 August, 2019 at Chennai for a detailed discussion. The statement was sent to the entire group by e-mail and their approval obtained.To formulate a consensus statement enable proper diagnosis and management of Cow's milk protein allergy.Cow's milk protein allergy is most common in the first year of life. Gastrointestinal manifestations are usually non-IgE mediated and therefore skin prick test and specific IgE levels are not useful in diagnosis. Clinical response to elimination diet followed by a positive oral food challenge is diagnostic. In patients with only gastrointestinal manifestations, sigmoidoscopy and rectal biopsy may be considered as an alternative. Management involves strict avoidance of all forms of bovine milk protein. For infants who are artificially fed, an extensively hydrolyzed formula is the first choice. Soy formula is an alternative in those above six months of age. Since most infants outgrow the allergy, elimination diet is only for a limited period and re-evaluation should be done periodically.

Clinical practice guidelines for Wilson's disease (WD) have been published by the American Association for the Study of Liver Diseases and European Association for the Study of the Liver in 2008 and 2012, respectively. Their focus was on the hepatic aspects of the disease. Recently, a position paper on pediatric WD was published by the European Society of Pediatric Gastroenterology Hepatology and Nutrition. A need was felt to harmonize guidelines for the hepatic, pediatric, and neurological aspects of the disease and contextualize them to the resource-constrained settings. Therefore, experts from national societies from India representing 3 disciplines, hepatology (Indian National Association for Study of the Liver), pediatric hepatology (Indian Society of Pediatric Gastroenterology, Hepatology and Nutrition), and neurology (Movement Disorders Society of India) got together to evolve fresh guidelines. A literature search on retrospective and prospective studies of WD using MEDLINE (PubMed) was performed. Members voted on each recommendation, using the nominal voting technique. The Grades of Recommendation, Assessment, Development and Evaluation system was used to determine the quality of evidence. Questions related to diagnostic tests, scoring system, and its modification to a version suitable for resource-constrained settings were posed. While ceruloplasmin and 24-h urine copper continue to be important, there is little role of serum copper and penicillamine challenge test in the diagnostic algorithm. A new scoring system - Modified Leipzig score has been suggested with extra points being added for family history and serum ceruloplasmin lower than 5 mg/dl. Liver dry copper estimation and penicillamine challenge test have been removed from the scoring system. Differences in pharmacological approach to neurological and hepatic disease and global monitoring scales have been included. Rising bilirubin and worsening encephalopathy are suggested as indicators predicting need for liver transplant but need to be validated. The clinical practice guidelines provide recommendations for a comprehensive management of WD which will be of value to all specialties.

To document the prevalence of non-alcoholic fatty liver disease (NAFLD) and metabolic parameters among normalweight and overweight schoolchildren. Cross-sectional study. Thirteen private schools in urban Faridabad, Haryana. 961 school children aged 5-10 years. Ultrasound testing was done, and 215 with fatty liver on ultrasound underwent further clinical, biochemical and virological testing. Prevalence of fatty liver on ultrasound, and NAFLD and its association with biochemical abnormalities and demographic risk factors. On ultrasound, 215 (22.4%) children had fatty liver; 18.9% in normal-weight and 45.6% in overweight category. Presence and severity of fatty liver disease increased with body mass index (BMI) and age. Among the children with NAFLD, elevated SGOT and SGPT was observed in 21.5% and 10.4% children, respectively. Liver enzyme derangement was significantly higher in overweight children (27% vs 19.4% in normal-weight) and severity of fatty liver (28% vs 20% in mild fatty liver cases). Eleven (8.1%) children with NAFLD had metabolic syndrome. Higher BMI (OR 35.9), severe fatty liver disease (OR 1.7) and female sex (OR 1.9) had strong association with metabolic syndrome. 22.4% of normal-weight and overweight children aged 5-10 years had fatty liver. A high proportion (18.9%) of normal-weight children with fatty liver on ultrasound indicates the silent burden in the population.

Background and aims During the COVID-19 vaccination program in India, the healthcare workers were given the first priority. There are concerns regarding the occurrence of breakthrough infections after vaccination. We aimed to investigate the effictiveness of COVID-19 vaccines in preventing and reducing the severity of post-vaccination infections. Methods This retrospective test-negative case-control study examined 28342 vaccinated healthcare workers for symptomatic SARS-CoV-2 infections between January 16 to June 15, 2021. They worked at 43 Apollo Group hospitals in 24 Indian cities. These cohorts received either ChAdOx nCOV-19 (Recombinant) or the whole virion inactivated Vero cell vaccines. Various demographic, vaccination related and clinical parameters were evaluated. Results Symptomatic symptomatic post-vaccination infections occurred in a small number of vaccinated cohorts (5.07%, p 50 years contracted more infections (p