Sirolimus-induced Hypertriglyceridemia Leads to Acute Pancreatitis and Diabetic Ketoacidosis Post Stem Cell Transplant for Sickle Cell Disease.

Sirolimus (mammalian target of rapamycin inhibitor) is a potent immunosuppressive agent, used in patients receiving hematopoietic stem cell transplant (HSCT) for Graft vs Host disease prophylaxis. Compared to calcineurin inhibitors, sirolimus has no neurotoxicity or nephrotoxicity, but sirolimus causes dose-dependent thrombocytopenia, leukopenia, delayed wound healing, hyperlipidemia, and hypertriglyceridemia. Here we report a case of acute pancreatitis and diabetic ketoacidosis in a patient with sickle cell disease post haploidentical family donor HSCT which was managed conservatively without plasmapheresis.

Insulin Glargine in Type 1 Diabetes Mellitus: A Review of Clinical Trials and Real-world Evidence Across Two Decades.

Background: Over the past two decades, insulin glargine 100 U/mL (Gla-100) has emerged as the "standard of care" basal insulin for the management of type 1 diabetes mellitus (T1DM). Both formulations, insulin glargine 100 U/mL (Gla-100) and glargine 300 U/mL (Gla- 300) have been extensively studied against various comparator basal insulins across various clinical and real-world studies. In this comprehensive article, we reviewed the evidence on both insulin glargine formulations in T1DM across clinical trials and real-world studies.

Effects of Early Initiation of Growth Hormone Therapy on Different Auxological Parameters in Growth Hormone Deficient Children: Experience from an Indian Tertiary Care Center.

Objectives: The aim of the study was to evaluate the efficacy of early initiation versus late growth hormone in improving the predicted adult height in growth hormone deficiency (GHD) children.

Methods: A retrospective study of 550 GHD children with short stature, who had taken rGH for duration of minimum 12 months were included. They were divided into groups of less than 8 years and more than 8 years of age based on the initiation of growth hormone therapy.

Pancreas transplant in type 1 diabetes mellitus: the emerging role of islet cell transplant.

Pancreas transplant, both whole pancreas and islet cell, is a known therapeutic option for treatment of type 1 diabetes mellitus. Islet cell transplant began as an experimental therapy but is emerging to be quite beneficial due to less surgical risk and fewer complications. It is also considered a promising option in pediatric patients.

Use of Growth Hormone Treatment in Skeletal Dysplasia - A Review.

Skeletal dysplasias are the disorders of the skeletal and cartilaginous tissues. Short stature is the hallmark presentation. Achondroplasia is the commonest skeletal dysplasia.

Efficacy and safety of liraglutide in Indian adolescents with obesity.

Aim: The aim of this study was to evaluate the efficacy and safety of liraglutide in adolescents with obesity.

Materials And Methods: Patients ( = 41) received injection liraglutide for at least 12 weeks and their pre-baseline and post-baseline characteristics were recorded and analysed. The key parameters analysed were weight, height, body mass index (BMI), fasting insulin and sugar, 1 h insulin and glucose, 2 h insulin and glucose, HbA1c, cholesterol, triglycerides, serum glutamic oxaloacetic transaminase, serum glutamic pyruvic transaminase, thyroid stimulating hormone and bone.

Feasibility of bisphosphonate therapy in an Indian pediatric patient of fibrodysplasia ossificans progressiva.

Fibrodysplasia ossificans progressiva, also known as myositis ossificans progressiva, is a rare autosomal dominant disorder (1 in 2 million). It produces a catastrophic and crippling illness in young people for which there is no effective treatment. This case report presents a case of 7-year-old child misdiagnosed as osteogenesis imperfecta admitted with severe disability and pain.

A Novel Variant c.847T>C in Gene Leading to Pycnodysostosis: A Case Report.

Pycnodysostosis is a rare genetic disorder with a prevalence of 1.7 per million births; it usually presents with short stature, osteosclerosis, increased bone fragility, and acro-osteolysis of distal phalanges. There are less than 200 cases reported worldwide and very few from South-East Asia.

A variable course of Cushing's disease in a 7 year old: diagnostic dilemma.

Background Cushing's syndrome (CS) or hypercortisolism results from disruption of the hypothalamus-pituitary-adrenal (HPA) axis with the resultant increase in the circulating serum and urinary cortisol levels and lack of cortisol circadian rhythm. The resultant effects cause the physical manifestation of hypercortisolism. The appearance of Cushing's disease in children is insidious, the most common features being growth failure, obesity, early puberty and facial appearance.

Real-world efficacy and safety of insulin degludec with mealtime rapid-acting insulin in type 1 diabetes in Indian pediatric population.

Background: Insulin Degludec (IDeg) is a new ultra-long-acting basal insulin that has not been yet evaluated in Indian pediatric population. We aim to evaluate the efficacy and safety of IDeg as basal-bolus therapy in Indian pediatric patients affected by type 1 diabetes mellitus (T1DM).

Methods: A total of 30 pediatric and adolescent patients (17 boys, 13 girls; 22 were pre-pubertal) with T1DM who were on IDeg once daily participated in the study.

Hereditary vitamin D rickets: a case series in a family.

Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by end-organ resistance to 1α,25-dihydroxyvitamin D3 (1,25D3). Clinically, the syndrome is recognized by severe early onset rickets with bowing of the lower extremities, short stature, and often alopecia. Here, we report a case series on three siblings who had HVDRR with varied clinical findings.

Novel mutation c.597_598dup in exon 5 of ABCC8 gene causing congenital hyperinsulinism.

Congenital hyperinsulinism (CHI), a clinically and genetically heterogeneous disease, characterized by the unregulated secretion of insulin from pancreatic β-cells, is the most common cause of persistent hypoglycemia in infancy. Early diagnosis and maintenance of normoglycaemia are essential to prevent adverse neurodevelopmental outcomes. The most common and severe forms of CHI are caused by inactivating mutations in ABCC8 and KCNJ11 genes, encoding the two subunits of the pancreatic β-cell ATP sensitive potassium channel (KATP).

Continuous glucose monitoring system for congenital hyperinsulinemia.

Blood glucose monitoring is a way of testing the concentration of glucose in the blood. The most recent advance is the development of continuous glucose monitoring system (CGMS) which gives 24 hour trend of blood sugar levels thus helping both the patient and the physician in achieving better glycemic control. CGMS in pediatric population is generally used for those on insulin pumps and those who are having fluctuating blood glucose levels.

A single base-pair deletion in the WFS1 gene causes Wolfram syndrome.

Wolfram syndrome is a progressive neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). The majority of cases are caused by mutations in the WFS1 gene. WFS1 is located at 4p16.

Management of lower limb deformities in children with osteogenesis imperfecta.

Osteogenesis imperfecta (OI) often leads to severe lower limb (LL) deformities due to recurrent fractures that significantly hamper ambulation. We describe our management experience of correction of LL deformities in four children with OI. Medical management consisted of peri and postoperative pamidronate therapy, calcium supplementation and rehabilitative care.

Cushing disease presenting as arthritis.

Cushing's syndrome is an endocrine disorder caused by hypercortisolism. Despite its varied clinical spectrum of presentation, Cushing's disease has not been reported to present as arthritis. Moreover, keratilysis exfolitiva has not been described in Cushing disease.

From hyperinsulinaemic hypoglycaemia to ketotic hypoglycaemia: the range of glucose abnormalities in patients born with intrauterine growth retardation.

Introduction: Newborns with intrauterine growth retardation (IUGR) have multiple risk factors for developing hypoglycaemia. Hyperinsulinism, both transient and prolonged, is one of the major risk factors responsible for the hypoglycaemia observed in some newborns with IUGR. Once the child has progressed beyond the infancy period, the most common cause of hypoglycaemia is ketotic hypoglycaemia.