Renal Function as a Predictor of Mortality and Functional Outcomes in Acute Stroke: A Prospective Study.

Background: Stroke is a leading cause of global morbidity and mortality, and understanding modifiable predictors of stroke outcomes is crucial. This study explores the relationship between renal function, assessed via estimated glomerular filtration rate (eGFR) and serum creatinine, and stroke mortality and functional outcomes in a cohort of acute stroke patients in India.

Methods: A prospective observational study was conducted from February 2021 to October 2022, including 104 acute stroke patients from MS Ramaiah Medical College and Hospital, Bengaluru, India.

New-Onset Rheumatoid Arthritis in Pregnancy: A Case Report.

Rheumatoid arthritis (RA) is extremely uncommon during pregnancy. The alterations in the immune system that occur to support the developing fetus make the onset of RA during this period unlikely. In this case report, we describe a 26-year-old pregnant woman who presented with bilateral symmetrical pain in her hands, wrists, and ankles at 24 weeks of gestation.

Colchicine Therapy for Glenohumeral Osteoarthritis: A Case Report.

Osteoarthritis management primarily focuses on targeting pain. Conventional modalities for pain management include acetaminophen, non-steroidal anti-inflammatory drugs (NSAIDs), and intra-articular corticosteroid injections. However, these approaches may provide minimal pain relief and can be contraindicated for some patients, highlighting the ongoing need for alternative pain management.

Various Doses of Tanezumab in the Management of Chronic Low Back Pain (CLBP): A Pooled Analysis of 4,514 Patients.

Chronic low back pain (CLBP) is a persistent and debilitating condition characterized by pain and discomfort in the lower back region that lasts more than 12 weeks. This review aims to determine the efficacy and safety of various doses of tanezumab for managing CLBP. The present meta-analysis was reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines and the Cochrane Handbook for Systematic Reviews of Intervention standards.

Identification of Three Novel and One Known Mutation in the Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis.

Objective: Bi-allelic mutations in the cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by nonautoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and neuropsychiatric disorders. Patients presenting with an incomplete phenotype of WS1 were evaluated using homozygosity mapping and subsequent whole-exome sequencing.

Methods: Four unrelated consanguineous Turkish families, including seven affected children, and their unaffected parents and siblings were evaluated.

Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation.

Background: Fanconi Bickel Syndrome is a rare, autosomal recessive, disorder of carbohydrate metabolism. Presence of hypercalciuria is rare.

Case Characteristics: 4.

Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I.

Background And Aims: Vitamin D-dependent rickets type I (VDDR1) is an autosomal recessive disorder caused by mutations in the 25-hydroxyvitamin D 1-alpha-hydroxylase gene (CYP27B1). Mutations in CYP27B1 disrupt or lead to a total loss of the 1-α-hydroxylase activity and require treatment with physiological doses of calcitriol.

Patients And Methods: A genetic analysis of the CYP27B1 gene was conducted in 22 Turkish patients with VDDR1 from 13 families.

A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome.

Background: Alström syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alström syndrome 1 (ALMS1) gene located at 2p13.1.

Dipeptidyl peptidase-4 expression in pancreatic tissue from patients with congenital hyperinsulinism.

Congenital hyperinsulinism (CHI) is caused by unregulated insulin release and leads to hyperinsulinaemic-hypoglycaemia (HH). Glucagon like peptide-1 (GLP-1), glucose-dependent insulinotropic peptide (GIP), peptide YY (PYY) and the enzyme; dipeptidyl peptidase-4 (DPP-4) all regulate appetite and glucose homeostasis. These proteins have been identified as possible contributors to HH but the mechanism remains poorly understood.

A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.

Thiamine-responsive megaloblastic anaemia (TRMA) is a rare syndrome where patients present with early onset diabetes mellitus, megaloblastic anaemia and sensorineural deafness. This report describes a new case of TRMA syndrome in a female patient of Portuguese descent, born to unrelated parents. The patient was found to have a novel homozygous change R397X in exon 4 of the SLC19A2 gene, leading to a premature stop codon.

Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia.

Context: Mutations in the growth hormone releasing hormone receptor (GHRHR) gene are a relatively rare cause of isolated growth hormone deficiency (IGHD).

Objective: This study aimed to understand the biochemical basis of hypoglycemia in the index case and the molecular basis of severe short stature in a large consanguineous family with IGHD.

Patients And Methods: The index case presented with a hypoglycemic convulsion, following which eight members in two related consanguineous Turkish families were identified with IGHD.