Frequency of Diabetic Retinopathy and Its Association with HbA1c in Children and Adolescents with Type-I Diabetes Mellitus.

Objective: To determine the frequency of diabetic retinopathy and its association with HbA1c in children and adolescents having Type-I Diabetes Mellitus (T1DM).

Study Design: Analytical, cross-sectional study. Place and Duration of the Study: Department of Paediatric Endocrinology and Diabetes, National Institute of Child Health, Karachi, Pakistan, from October 2023 to March 2024.

Response to Recombinant Human Growth Hormone (rhGH) Therapy in Children with Growth Hormone Deficiency.

Objective: To determine the auxological response to recombinant human growth hormone (rhGH) therapy in children with growth hormone deficiency (GHD) presenting at the National Institute of Child Health, Karachi, Pakistan.

Study Design:  Observational study. Place and Duration of the Study: Department of Paediatric Endocrinology, National Institute of Child Health, Karachi, Pakistan, from January 2022 to December 2023.

Frequency of C-peptide and antibody levels (anti GAD, Islet cell antibodies, insulin auto antibodies) in children of Pakistan with Type-1 diabetes.

Background And Objective: The autoimmune mechanism in T1DM causes gradual loss of pancreatic β-cell, which progresses to hyperglycemia and ultimate reliance on consistent insulin therapy. T1DM has been the commonest type of diabetes in children and this study will help in refining indulgent towards the problem and its pathophysiology in our people. The objective was to find out the prevalence of C-peptide and antibody levels (anti GAD, ICA, IAA and IA2) in children and adolescents of Pakistan with T1DM.

Thiamine-Responsive Megaloblastic Anaemia With Hypothyroidism, A Puzzling Association.

Thiamine-responsive megaloblastic anaemia (TRMA) is characterized by the classic trio of diabetes mellitus, sensorineural hearing loss, and megaloblastic anaemia, typically emerging subtly between infancy and adolescence. Administration of high-dose thiamine often yields improvements in anaemia and occasionally in diabetes. Uncommon manifestations include optic atrophy, congenital heart defects, short stature, and stroke.

Celiac And Autoimmune Thyroid Disease In Patients With Anti-Gad Positive Type-1 Diabetes Mellitus.

Background: Type-1 diabetes mellitus (T1DM) and autoimmune thyroid disease can occur concomitantly and patients with TIDM have a high risk of other autoimmune conditions like thyroid disease and celiac disease. This study aimed to analyze the association of anti-GAD positive T1DM with anti-thyroid antibodies and celiac disease.

Methods: This cross-sectional study was conducted at the Department of Paediatric Endocrinology & Diabetes, National Institute of Child Health, Karachi Pakistan from July 2022 to December 2022.

Preference of the patient's family for family-centred care in a paediatric hospital.

Objective: To explore the dimensions of family-centred care preferred by families of paediatric inpatients in a public healthcare setting.

Methods: The qualitative study was conducted at the National Institute of Child Health, Karachi, from October 2021 to August 2022, and comprised family members of the hospitalised children. Data was collected through three focus group discussions that were guided by a semi-structured questionnaire.

Precipitating Factors and Outcome of Diabetic Ketoacidosis among Children and Adolescents with Type-1 Diabetes Mellitus.

Objective: To determine the precipitating factors and outcomes of diabetic ketoacidosis (DKA) among patients with type 1 diabetes mellitus.

Study Design: An analytical study. Place and Duration of the Study: Department of Paediatrics, National Institute of Child Health, Karachi, Pakistan, from July to December 2022.

A Rare Skeletal Dysplasia-Close Mimicker Of Juvenile Idiopathic Arthritis-Progressive Pseudorheumatoid Dysplasia.

Progressive pseudorheumatoid dysplasia or spondyloepiphyseal dysplasia tarda is caused by a mutation in Wnt1 inducible signalling pathway protein 3 (WISP3) and passes in an autosomal recessive manner. Prevalence underestimated as one per million and most of the cases remain undiagnosed or treated as Juvenile Idiopathic Arthritis (JIA). Differentiation between JIA and PPRD is really challenging however, this case is genetically confirmed from our country.

Safety and Efficacy of Zoledronic Acid in children with Osteogenesis Imperfecta.

Objective: To evaluate the efficacy and safety of zoledronic acid in children with osteogenesis imperfecta (OI).

Study Design: Descriptive Study.

Place And Duration Of Study: National Institute of Child Health, Department of Endocrine and Diabetes, Karachi, Pakistan, from January 2011 to December 2020.

Monogenic diabetes in Pakistani infants and children: challenges in a resource poor country.

Objectives: To review the data of infants and children with suspected monogenic diabetes who underwent genetic testing.

Methods: Monogenic diabetes is a rare form of diabetes resulting from mutations in a single gene. It can be caused by dominant as well as recessive modes of inheritance.

Spectrum of Addison's Disease in Children.

Objective: To determine the clinical presentation of Addison's disease in order to increase the awareness of presentation in Pakistani children.

Study Design: Observational study.

Place And Duration Of Study: Department of Diabetes and Endocrinology, National Institute of Child Health, Karachi, Pakistan, from 2015 to 2019.

Comparison of Classical and Non-Classical Turner Syndrome at NICH Karachi.

Objective: To analyse chromosomal abnormalities of the patients who were referred for the screening of short stature and delayed puberty and to verify the association between karyotype and phenotype in confirmed Turner Syndrome (TS) patients.

Study Design: Descriptive study.

Place And Duration Of Study: Department of Pediatric Endocrinology and Diabetes Unit-II, National Institute of Child Health, Karachi, from January 2011 to June 2016.

Frequency, causes and outcome of neonates with respiratory distress admitted to Neonatal Intensive Care Unit, National Institute of Child Health, Karachi.

Objective: To determine the frequency, aetiology and outcome of respiratory distress in neonates in intensive care unit.

Methods: The descriptive cross-sectional study was conducted at the Neonatal Intensive Care Unit, National Institute of Child Health, Karachi, from October 2009 to March 2010. It comprised neonates aged day 0 to 28 who were admitted to Neonatal Intensive Care Unit.