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.

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 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.

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).

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.