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.

Neurofibromatosis type 1 (NF1) presenting with dichotomous pubertal presentation: A case series.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that is caused by a mutation in the NF1 gene, which is located on chromosome 17q11.2, which encodes for a protein known as "Neurofibromin", which acts as an inhibitor of oncogene RAS. This gene mutation causes tumours to grow on nerves which results in other systemic abnormalities such as skin changes, bone and eye abnormalities, hormonal imbalances, and diversity in achievement of puberty with neurologic complications.

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.

Soluble and insoluble expression of recombinant human interleukin-2 protein using pET expression vector in .

Interleukin-2 has emerged as a potent protein-based drug to treat various cancers, AIDS, and autoimmune diseases. Despite its immense requirement, the production procedures are inefficient to meet the demand. Therefore, efficient production procedures must be adopted to improve protein yield and decrease procedural loss.

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.

Computational investigation of pyrazinamide drugs and its transition metal complexes using a DFT approach.

Pyrazinamide, an antituberculosis but documented toxic drug, is subjected to computational investigation along with the metal complexes via a DFT approach to predict the structure-activity and structure-toxicity relationship. 6-31G(d,p) basis set was used for Zn, Ni, Mn, Fe, and Co, while the SDD basis set was applied to Cu, Cr, Cd, and Hg. Several reactivity parameters and charge distribution were calculated and the reactivity profile was estimated.

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.

Novel IL-12Rβ1 deficiency-mediates recurrent cutaneous leishmaniasis.

Background: The IL-12/IFN-γ axis plays a vital role in the control of intramacrophagic pathogens including Leishmania infections.

Objective: The aim of this study was to investigate genetic defects in the IL-12/IFN-γ axis in cutaneous leishmaniasis patients, using immunological and genetic evaluation.

Methods: Enzyme-linked immunosorbent assay was used to quantify IFN-γ , while flow cytometry was performed to analyze surface IL-12Rβ1/IL-12Rβ2 expression and phosphorylation of signal transducers as well as the activator of transcription 4 (pSTAT4).

Van Wyk Grumbach Syndrome.

Van Wyk Grumbach syndrome is well known for protracted hypothyroidism, characterised by multicystic ovaries (normal size ovaries contain many follicles of various sizes), isosexual precocious puberty and delayed skeletal growth. A series of ten children with Van Wyk Grumbach syndrome is been presented with their clinical features, biochemical and radiological profile and management. Patients showed a noteworthy improvement upon thyroxine therapy.

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.