OBJECTIVE To study the genetic mutations and clinical profile in children with neonatal diabetes mellitus. METHODS Genetic evaluation, clinical management and follow-up of infants with neonatal diabetes. RESULTS Eleven infants were studied of which eight had permanent neonatal diabetes. Median age at presentation was 8 weeks and mean (SD) birth weight was 2.4 (0.5) kg. Pathogenic genetic mu...

Diabetes adalah suatu keadaan adanya gangguan metabolik yang terjadi jangka panjang/kronis ditandai dengan tingginya kadar glukosa darah disebabkan oleh defisiensi insulin absolut maupun relatif, disfungsi sel β, resistensi atau dapat keduanya. melitus secara diklasifikasikan menjadi beberapa jenis, dan paling umum diketahui diabetes tipe 1 2. Faktor-faktor berhubungan angka kejadian DM diantar...

Antipsychotic drugs are widely used in treating schizophrenia, bipolar disorder, and other psychiatric disorders. Many of these drugs, despite their therapeutic advantages, substantially increase body weight. We assessed the association of alleles of 31 genes implicated in body weight regulation with weight gain among patients being treated with specific antipsychotic medications in the clinica...

We report a rare case of permanent neonatal diabetes (PND) due to insulin (INS) gene mutation in a 51-month-old girl who presented with hyperglycemia in the neonatal period. Mutational analysis of KCNJ11 and INS was performed and this detected a novel heterozygous c.38T>G (p.Leu13Arg) INS de novo mutation. The non-conservative change substitutes the highly conserved L(13) residue within the hyd...

Objective: Type 2 diabetes mellitus (T2DM) is a multifactorial genetic condition caused by the combination of genes and environmental factors. Several variations linked to T2DM have been discovered in recent investigations, particularly genome-wide association studies (GWAS). This study aimed investigate involved T2DM, focusing on NGS analysis studying basis improve diagnosis, prevention, treat...