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Hemophilia B is an X-linked recessive bleeding disorder caused by deficiency or dysfunction of factor IX. It typically presents with spontaneous or trauma-induced bleeding, hemarthrosis, and soft tissue hematomas. We rep...

Transdifferentiated melanoma is a rare variant of melanoma characterized by phenotypic plasticity, loss of conventional melanocytic markers, and acquisition of features from other tissue lineages, often associated with a...

We describe two Turkish patients with tyrosine kinase 2 (TYK2) deficiency who experienced recurrent infections ranging from viral to bacterial and intracellular pathogens.Case 1An 8-year-old male patient was first admitt...

Abstract Background Neuronal intranuclear inclusion disease (NIID) is an extremely rare, slowly progressive neurodegenerative disorder characterized by episodic neurological and psychiatric symptoms. Diagnosis is challen...

BackgroundX-Linked agammaglobulinemia (XLA) is characterized by absent B cell development due to defects in the BTK gene. Patients with this condition have B cell aplasia as well as agammaglobulinemia and impaired vaccin...

Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency is an uncommon disorder characterized by impaired cortisol synthesis, hyperandrogenism, and mineralocorticoid excess. The coexistence of Leydig cell...

INTRODUCTION: Poisoning cases constitute approximately 0.7-5% of emergency department visits in Türkiye. This study aimed to investigate the demographic, etiological, and clinical characteristics of poisoning cases pres...

Aplasia Cutis Congenita (ACC) is a rare congenital disorder characterised by a lack of skin at birth, most commonly affecting the scalp, though other body areas may also be involved. The lesions typically range from 0.5 ...

Lichen sclerosus is a chronic inflammatory skin disorder that primarily affects the anogenital region, but can also present in extragenital areas. In children, lichen sclerosus most commonly involves the vulvar and peri...

Crohn’s disease is a chronic inflammatory bowel disease in which extraintestinal manifestations may occur before the onset of intestinal symptoms. Ocular manifestations, such as orbital myositis, are extremely rare as ...

Abstract Objective This feasibility study aimed to assess the potential of freely available large language models (LLMs) to support clinical decision-making in obstetrics. Methods Five fictional obstetric patient cases, ...

Abstract Objective This study aims to evaluate the clinical features, efficacy of endoscopic therapy, and long-term prognosis in patients with ectopic papilla of Vater (EPV) located in the duodenal bulb. Methods A retros...

This study presents PrimDx, a diagnostic test that applies machine learning (ML) to whole blood transcriptomic data to improve early detection and diagnosis of primary immunodeficiency (PID). Delays in PID diagnosis are ...

HELIOS is an IKAROS-family zinc-finger transcription factor that plays an important role in regulatory T cell function and conventional T cell homoeostasis. HELIOS shares a conserved N-terminal DNA-binding and C-terminal...

Abstract Background Trauma is among the leading causes of death and disability in Malawi and accounts for a substantial proportion of emergency admissions at tertiary hospitals. However, injured patients presenting for t...

Pityriasis versicolor is a superficial fungal infection of the skin caused by fungi of the genus Malassezia. Typically, patients present with well-defined, hypopigmented, scaly macules, or patches over seborrheic areas. ...

Abstract Background Small cell carcinoma of the ovary (SCCO) is a rare, highly aggressive malignancy comprising pulmonary type (SCCOPT) and hypercalcemic type (SCCOHT). Clinical presentations are nonspecific, and CT feat...

The recognition of disorders of immune dysregulation, particularly those presenting with lymphoproliferation and systemic autoimmunity (International Union of Immunological Societies [IUIS] Group 4.6), has markedly incre...

Abstract Background Chikungunya virus (CHIKV) infection can progress to severe clinical forms requiring intensive care. This study aimed to characterize adult patients admitted to intensive care units (ICUs) with CHIKV d...

Abstract Background Leishmaniasis is a vector-borne parasitic disease caused by Leishmania protozoa. The disease manifests in several clinical presentations including cutaneous, mucocutaneous, and visceral leishmaniasis....

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

Highly pathogenic avian influenza A (H5N1) remains a major zoonotic threat, yet human infections continue to display striking heterogeneity in clinical severity. We report a fatal case of H5N1 pneumonia in an adult patie...

IntroductionHyperinflammatory and hemophagocytic lymphohistiocytosis (HLH)-like presentations are increasingly recognized as clinical “red flags” for inborn errors of immunity (IEI), including severe combined immunod...

BackgroundGATA2 deficiency results from heterozygous pathogenic variants in the GATA2 gene, which encodes a zinc-finger transcription factor essential for hematopoietic stem and progenitor cell development. It is a highl...