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Wegener’s granulomatosis (WG) is an uncommon condition characterized by necrotizing granulomatosis of the upper and lower respiratory tract and glomerulonephritis. Clinical symptoms and organ involvement of the disease...

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...

There may be different clinical presentations of kidney involvement in the course of paroxysmal nocturnal hemoglobinuria, within a spectrum of acute kidney injury, generally due to hemolysis, to chronic kidney disease. H...

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...

OBJECTIVE: Mushroom poisoning may cause diverse clinical presentations ranging from mild gastrointestinal symptoms to fulminant hepatic failure requiring liver transplantation. It may lead to high mortality if not interv...

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 ...

Morphea, or localized scleroderma, is a chronic inflammatory condition marked by excessive collagen deposition, resulting in skin thickening and fibrosis. We report the rare case of a 54-year-old woman with en coup de sa...

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 In this study, we described the morphological features and unusual presentations of hydatidosis, fasciolosis, and eosinophilic myositis caused by Sarcocystis species diagnosed at the slaughterhouse lines. Twenty...

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 violence of sexual abuse is more difficult to identify, as in the majority of cases, physical evidence is not present. If teachers were trained to be more sensitive to other symptoms that a sexually abused child show...

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...