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Diagnostic and therapeutic pitfalls in the management of pediatric patients with 3?-hydroxysteroid dehydrogenase type 2 (3?-HSD2) deficiency - a single center experience

Abstract: Congenital adrenal hyperplasia (CAH) due to 3?-hydroxysteroid dehydrogenase type 2 deficiency (3?-HSD2D) is an exceptionally rare disorder affecting adrenal…

Date: 2025-09-25

Unveiling new insights: a comprehensive questionnaire-based single-center study of sebaceous nevus

Abstract: Sebaceous nevus (SN) is a rare, benign, congenital tumor. There is limited information on its clinical features, familial influences, quality of life (QoL) impact, and…

Date: 2025-09-25

Leveraging anatomy to improve safety and efficacy in temple augmentations—a case series of 20 patients

Abstract: Temple augmentation has become a cornerstone in full-face aesthetic rejuvenation, yet traditional techniques often face limitations, including aesthetic limitations and…

Date: 2025-09-25

H3K27me3 and HOXA9 expression predict prognosis in pediatric acute myeloid leukemia: an epigenetic-transcriptional correlation study

Abstract: Epigenetic dysregulation plays a central role in pediatric acute myeloid leukemia (AML), yet its clinical relevance remains underexplored. This study primarily aimed to…

Date: 2025-09-25

Clinical, immunological, molecular characteristics and outcomes of stem cell transplantation in ZAP70 deficiency: a single-center experience

Abstract: Zeta-chain-associated protein kinase 70 ( ZAP70 ) deficiency is a rare autosomal recessive T + B + NK + combined immunodeficiency characterized by heterogeneous clinical…

Date: 2025-09-25

Application of drug-induced sleep endoscopy in infants with dynamic upper airway collapse

Abstract: The study aimed to evaluate the utility and safety of drug-induced sleep endoscopy (DISE) in infants with suspected dynamic upper airway collapse. Infants with suspected…

Date: 2025-09-25

Evaluating stress and it associated factors in mothers of preterm infants in NICU: a cross-sectional study

Abstract: Providing care of preterm infants in the NICU is a significant source of psychological and emotional stress for both infants and parents. The purpose of the study was to…

Date: 2025-09-25

Clinical and immunological characterization of a Netherton syndrome infant with a large SPINK gene cluster deletion and a c.1258A>G polymorphism in SPINK5

Abstract: Netherton syndrome (NS) is a rare autosomal recessive disorder caused by mutations in the SPINK5 gene, which encodes the serine protease inhibitor LEKTI. It is…

Date: 2025-09-25

TACI and BTK gene analysis in predominantly antibody deficiencies among the primary immunodeficiency disorder patients in Bangladesh

Abstract: Common variable immune deficiency disorder (CVID) and X-linked agammaglobulinemia (XLA) are the most prevalent predominantly antibody deficiencies (PADs). Analysis of…

Date: 2025-09-25

Can the triglyceride–glucose index identify prediabetes in children and adolescents with obesity? a cross-sectional study

Abstract: This study aims to evaluate the triglyceride–glucose (TyG) index as a biomarker for identifying prediabetes mellitus (PDM) in children and adolescents with obesity and…

Date: 2025-09-25