Renal Amyloidosis in a Child with Recessive Dystrophic Epidermolysis Bullosa Due to a Novel Variant in Gene.

Secondary amyloidosis may complicate inherited dermatoses, but recessive dystrophic epidermolysis bullosa (RDEB) complicated by renal amyloidosis is rare. We report a case of a 12-year-old male child with RDEB presenting with progressive generalized anasarca for 20 days. Kidney biopsy showed diffuse expansion of mesangial matrix by pale acellular Periodic Acid-Schiff (PAS)-negative amorphous material, which was congophilic on Congo red stain and gave apple green birefringence on polarization and extending along the glomerular basement membrane, suggestive of amyloidosis.

Clinical and molecular characterisation of children with monogenic obesity: a case series.

Introduction: To study the clinical profile and molecular diagnosis of children with severe early-onset non-syndromic monogenic obesity.

Methods: The clinical and molecular data (performed using whole exome sequencing) of 7 children with early-onset (< 5 years) non-syndromic monogenic obesity were extracted from the Obesity Clinic files and analysed retrospectively.

Results: The median (IQR) age at presentation was 18 (10.

Cost and cost-effectiveness of treatments for rheumatic heart disease in low- and middle-income countries: a systematic review protocol.

Objective: This review will synthesize studies on costs, the impact of these costs, and the cost-effectiveness of treatments for rheumatic heart disease (RHD) in low- and middle-income countries.

Introduction: RHD incurs high costs owing to its clinical complexity, surgical treatments, and prolonged hospital stays. Thus, the disease has a substantial economic impact on the health system, patients, and their families.

Estrogen Receptor 1 Gene Polymorphism and its Association with Idiopathic Short Stature in a North Indian Population.

Objective: In the hypothalamic-pituitary-gonadotrophin axis, estrogen plays a key role in the regulation of bone maturation and growth plate closure. This study was designed to explore the link between single nucleotide polymorphisms (SNPs) in the estrogen receptor 1 () gene with idiopathic short stature (ISS) susceptibility in a North Indian population.

Methods: Four SNPs of (rs543650, rs6557177, rs2234693 and rs9340799) were genotyped by Sanger sequencing in ISS patients and controls.

Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.

Background: Neurofibromatosis type 1 (NF1) is a unique, highly penetrant neuro-cutaneous disorder with a wide range of manifestations. Though the clinical diagnosis of NF1 is straight forward, there can be other disorders which mimic NF1, especially its cutaneous features. Here we describe the clinical and mutation spectrum of a series of individuals whose primary diagnosis was NF1 or NF1 related disorders.

Severity Scoring Cutoff for MLPA and Its Diagnostic Yield in 332 North Indian Children with Developmental Delay.

Chromosomal aberrations/rearrangements are the most common cause of intellectual disability (ID), developmental delay (DD), and congenital malformations. Traditionally, karyotyping has been the investigation of choice in such cases, with the advantage of being cheap and easily accessible, but with the caveat of the inability to detect copy number variations of sizes less than 5 Mb. Chromosomal microarray can solve this problem, but again the problems of expense and poor availability are major challenges in developing countries.

Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy.

Chromatinopathy is an emerging category of multiple malformation syndromes caused by disruption in global transcriptional regulation with imbalances in the chromatin states (i.e., open or closed chromatin).

Health-related quality of life and fatigue perception in children with congenital adrenal hyperplasia: A Developing nation perspective.

Introduction: Disease chronicity, lifelong medications, Adrenal crisis, and genital surgeries affect the physical, mental, school and social aspects of a child's life and are a cause of great concern to parents regarding the future of their child with Congenital Adrenal Hyperplasia (CAH). The aim of the study was to assess quality of life (QoL) in children and parents of CAH and comparison with healthy children.

Material And Methods: This was a questionnaire-based cross-sectional study in 28 children with classical CAH attending the Pediatric Endocrine clinic at a tertiary-care center in northern India.

Successful pregnancy outcome in Ehlers-Danlos syndrome, vascular type.

Background: Ehlers-Danlos syndrome (EDS) is a rare connective tissue disorder characterized by tissue fragility, translucent skin and joint hypermobility. Patients with the vascular type of EDS are prone to spontaneous arterial and visceral rupture. Pregnancy for women with vascular EDS can be life-threatening.

Antenatal treatment of fetal goiter: a therapeutic challenge.

Objective: Pre-natal ultrasonography presents an opportunity for in-utero therapy of a fetal goiter. Because of the morbidity associated with a large goiter and the risks of repeated intra-amniotic injections, controversy arose about the precise indications of this mode of treatment. We describe our observations in treating a 22-week-old fetus with a large goiter because of dyshormogenesis, monitored with serial 3D high frequency, high resolution ultrasonography and amniotic hormonal measurements.

Obstetric management of Klippel-Trenaunay syndrome.

Background: Klippel-Trenaunay syndrome is a rare congenital disease characterized by extensive cutaneous vascular malformations, venous varicosities, focal abnormalities of the deep venous system, and underlying soft tissue or bony hypertrophy. Given the rarity of the disease, there is little information available to counsel patients with Klippel-Trenaunay syndrome regarding obstetric outcome.

Cases: We report our experience with 3 patients in whom Klippel-Trenaunay syndrome complicated 4 pregnancies.

Vaginal fetal fibronectin as a predictor of spontaneous preterm delivery after multifetal pregnancy reduction.

Objective: The study was undertaken to assess the validity of vaginal fetal fibronectin assay as a screening test for spontaneous preterm delivery in asymptomatic patients who have undergone multifetal pregnancy reduction (MFPR).

Study Design: A historic cohort of 63 patients who underwent MFPR between 10 and 14 weeks of gestation was identified. All patients underwent serial vaginal fetal fibronectin sampling every 2 to 3 weeks from 22 weeks of gestation until delivery or 32 weeks of gestation.