Publications by authors named "Naveen Mittal"

Article Synopsis
  • Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessive disorder mainly caused by BSEP deficiency, leading to issues like bile formation disruption and severe itching (pruritus).!* -
  • The MARCH-PFIC study was a phase 3, double-blind, placebo-controlled trial involving participants aged 1-17 from 29 centers across 16 countries, focusing on the effects of the drug maralixibat on different types of PFIC.!* -
  • The study aimed to measure changes in pruritus severity and serum bile acid levels over 26 weeks, specifically looking at outcomes in cohorts with varying forms of PFIC, comparing those treated with maralixibat
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Cryptococcosis usually occurs in immunocompromised patients and presents as meningitis and lung disease. Adrenal gland involvement may be observed, yet primary adrenal insufficiency by cryptococcal infection is infrequent. We present a case of a middle-aged immunocompetent man with primary adrenal insufficiency and bilateral adrenal lesions, splenomegaly, and miliary mottling in the lungs on imaging.

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Hypercalcemia-induced pancreatitis is a rare and challenging complication, particularly when secondary to sarcoidosis. This case report discusses the clinical presentation, diagnostic workup, and management of a 61-year-old patient diagnosed with hypercalcemia-induced pancreatitis secondary to sarcoidosis. The abstract highlights the complexities of diagnosing pancreatitis linked to elevated calcium levels and underscores the importance of recognizing underlying conditions such as sarcoidosis in these cases.

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Hypercalcemia is a complex medical condition characterized by elevated levels of serum calcium (>10.5 mg/dL) in the bloodstream, often arising from various underlying etiologies. This condition presents a significant clinical challenge due to its diverse clinical manifestations and potential for serious complications.

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Insulin autoimmune syndrome [IAS, Hirata disease (HD)] is a rare cause of recurrent spontaneous hypoglycemic episodes, characterized by high serum insulin levels and high titers of autoantibodies against endogenous insulin. We report a case of a previously healthy Indian male presenting with recurrent episodes of hypoglycemia with no prior exposure to exogenous insulin. Regular glucose monitoring was done.

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Background And Objective: Hyponatremia is the most common electrolyte abnormality encountered in a hospital setting, and the data regarding the contribution of hyponatremia to overall mortality are conflicting. The study objective was to determine patients' clinical profiles and outcomes with hyponatremia.

Methods:  This prospective cross-sectional study was conducted at Dayanand Medical College and Hospital, Ludhiana, and included 375 adult patients aged more than 18 years with a confirmed diagnosis of hyponatremia.

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Background: Takotsubo cardiomyopathy (TCM) is a rare disease entity characterized by acute, non-ischemic, reversible myocardial dysfunction that mimics acute myocardial infarction. Activation and excessive outflow of sympathetic nervous system are believed to be central to the figure in the disease pathogenesis. Adrenocortical hormones potentiate the systemic actions of sympathetic nervous system and accordingly are essential for regulation of myocardial function.

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Background And Objectives: Diabetes mellitus is associated with poor clinical outcomes in patients with coronavirus disease 2019 (COVID-19). This study aimed to explore the clinical characteristics of patients with type 2 diabetes with COVID-19, and to determine the impact of type 2 diabetes on clinical outcome of patients with COVID-19.

Material And Methods: This single-center, retrospective, observational study enrolled patients admitted from March 2020 to June 2021 with COVID-19.

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Small osteolabral avulsions of the hip can be easily missed, and postreduction stress testing and a computed tomography (CT) scan of the hip should be done to look for these injuries. The usual modality of treatment of these unstable osteolabral avulsions is suture anchors, Herbert screws or spring plates. But when the bony avulsion is small, the use of these implants becomes a tedious job.

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Context: The effects of coronavirus disease 2019 (COVID-19) on the endocrine system remain uncertain.

Objective: Our study aimed to explore the possible effects of COVID-19 on endocrine organs and to determine the impact of glycemic status, 25-hydroxyvitamin D levels, calcium levels, and thyroid dysfunction on the final outcome of patients with COVID-19.

Design And Methods: This single-center, retrospective study evaluated endocrine function abnormalities in 102 patients hospitalized with COVID-19 in the intensive care unit (ICU).

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Objective: To identify key epidemiologic factors relevant to fetal development that are associated with biliary atresia.

Study Design: This population-based registry study examined infants born in Texas between 1999 and 2014. Epidemiologic data relevant to fetal development were compared between cases of biliary atresia identified in the Texas Birth Defects Registry (n = 305) vs all live births (n = 4 689 920), and Poisson regression was used to calculate prevalence ratios (PRs) and 95% CIs.

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Background/purpose: There is a distinct lack of published studies evaluating the reasons for delay in definitive treatment of open fractures. This study aimed to determine the specific factors causing delay in the timely treatment of open fractures from the time of injury and to analyse the quality of treatment performed at the pre-hospital level.

Methods: In total, 250 consecutive patients with open fractures were assessed for time to surgery from injury and admission.

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With the rapidly increasing numbers of children diagnosed with obesity, pediatricians are facing more and more challenges regarding the complex care of these patients. Pediatric nonalcoholic fatty liver disease (NAFLD) is now the most prevalent cause of pediatric chronic liver disease, given its association with obesity. As NAFLD increases a child's risk of developing long-term complications including cirrhosis and hepatocellular carcinoma, efficient diagnosis and effective management is paramount.

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Article Synopsis
  • Rhino-orbito-cerebral mucormycosis (ROCM) is a rare but deadly fungal infection primarily affecting immunocompromised people, particularly those with diabetes in India, where limited data exists on patient outcomes.
  • A study analyzed 91 diabetic patients with ROCM from a Punjab hospital, revealing that the average age was 52.6 years, with vision problems being common, and aggressive surgical intervention improved survival rates significantly.
  • The findings indicated that delays in treatment and intracranial spread worsened outcomes, emphasizing the need for early diagnosis and intensive management to reduce the high mortality associated with this disease.
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Acute pancreatitis as an initial manifestation of primary hyperparathyroidism (PHPT) is a rare occurrence and timely diagnosis of PHPT is crucial in preventing repeat attack of pancreatitis. The study aimed at evaluating the clinico-radiological profile of patients admitted with acute pancreatitis as the index presentation of PHPT and to determine the factors associated with development of severe pancreatitis. This series included retrospective analysis of medical records of 30 patients admitted with acute pancreatitis as initial manifestation of PHPT.

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Biallelic STX3 variants were previously reported in five individuals with the severe congenital enteropathy, microvillus inclusion disease (MVID). Here, we provide a significant extension of the phenotypic spectrum caused by STX3 variants. We report ten individuals of diverse geographic origin with biallelic STX3 loss-of-function variants, identified through exome sequencing, single-nucleotide polymorphism array-based homozygosity mapping, and international collaboration.

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Background And Aims: Diabetes Mellitus (DM) is a modifiable and independent risk factor for stroke. As the clinical features, radiological profile, outcome and prognosis of the stroke in type 2 diabetic and non diabetic patients are significantly variable, we proposed to evaluate these variations of stroke in patients with or without Type 2 DM.

Material And Methods: A prospective study was conducted from January, 2011 to June, 2012 on in-hospital admitted diabetic and non diabetic patients presenting with stroke.

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Liver biopsy is the cornerstone of medical decision-making for a wide range of hepatic diseases in children. The indications for liver biopsy vary greatly depending on the ease of diagnosis with non-invasive tests, the need to stage of disease, and the role of histological evaluation in management of liver disease. Multiple methods of liver biopsy are available to the clinician and are utilized based on clinical circumstances, cost, and consideration of contraindications.

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Purpose: Distraction osteogenesis has been used for post-traumatic segmental bone defects. Absent or delayed callus formation in the distraction gap can lead to significant morbidity and affect the clinical outcome. Experimental evidence in animal models has demonstrated that teriparatide enhances the consolidation of regenerate and also strengthens it.

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Parenteral Nutrition (PN) Associated Liver Disease (PNALD) affects up to 60% of neonates; however, techniques for diagnosing and monitoring disease progression remain limited. The neonatal baboon model may provide a unique opportunity to identify serologic markers associated with this disease. The purpose of this study was to investigate if Hyaluronic Acid (HA), TIMP metallopeptidase inhibitor 1 (TIMP1), Amino-terminal Propeptide of Type-III Collagen (PIIINP) and Enhanced Liver Fibrosis (ELF) score associate with histological liver disease in neonatal baboons exposed to PN.

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With recent medical advances, more patients with childhood-onset liver disease and more pediatric liver transplant recipients are surviving into adulthood, generating distinctive challenges to adult primary care providers. Young adults with pediatric liver disease are a unique cohort of patients with different evaluation and monitoring strategies, treatment, complications, and comorbidities. This creates a critical need for successful transition of these patients into adult care, with incorporation of a formal transitional model and multidisciplinary team.

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For children under 12 years of age who have chronic hepatitis C virus (HCV) infection, there are currently no approved treatments with direct-acting antiviral agents. We therefore evaluated the safety and efficacy of ledipasvir-sofosbuvir in HCV-infected children aged 3 to <6 years. In an open-label study, patients 3 to <6 years old chronically infected with HCV genotype 1 (n = 33) or 4 (n = 1) received weight-based doses of combined ledipasvir-sofosbuvir as granules (33.

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Background: Microvillus Inclusion Disease (MVID) was first described in the literature in 1978 with presentation of severe watery diarrhea, failure to thrive, and metabolic acidosis. Mutations in the myosin Vb (MYO5B) gene have been identified as causative for MVID, but other clinical manifestations and associations with novel mutations are lacking.

Methods: We report a full-term infant admitted to the neonatal intensive care unit (NICU) with abdominal distension and inability to sustain full enteral feeds.

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Background: Filling bone defect after debridement of infected nonunion is an orthopedic challenge. Since the volume of autologous bone graft available is limited, allograft, demineralized bone matrix, and calcium phosphate ceramic-based bone graft substitutes have come up as potential autograft expanders. This study was conducted to analyze the use of beta tri-calcium phosphate (B-TCP)-based composite ceramic as autologous bone-graft expander in the management of postinfective segmental gap nonunion of long bones managed with two-stage Masquelet's technique.

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Background: The role of an intact meniscus in providing mechanical stability to the knee of anterior cruciate ligament (ACL) deficient and ACL reconstructed patients has not been well studied.

Methods: This was a prospective cohort study. A total of 205 patients undergoing ACL reconstruction were enrolled, of which 61 had normal menisci, 49 had a tear in the posterior horn of the medial meniscus (PHMM) (tear <40% of width = 19; >40% of width = 30), 35 had a tear in the lateral meniscus (<40% of width = 15; >40% = 20), 13 had a tear in the body and/or anterior horn of the medial meniscus (<40% of width = 6; >40% = 7) and 47 patients had a tear in both menisci.

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