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Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare and progressive neurodegenerative disorder, distinguished by extreme clinical heterogeneity that frequently results in diagnostic delays. Whil...

Abstract Background Pediatric connective tissue disease-associated interstitial lung disease (CTD-ILD) is a rare but serious condition with limited clinical data; this study aimed to evaluate its clinical features, treat...

IntroductionSystemic juvenile idiopathic arthritis-associated lung disease (sJIA-LD) is a rare, potentially fatal complication of sJIA, often accompanied by pulmonary hypertension (PHTN) and macrophage activation syndrom...

Abstract Background The genetic basis of autism spectrum disorder (ASD) is complicated by high heritability and substantial heterogeneity, in which de novo variants and polygenic burden from common variants have not been...

Abstract While both common and rare variants contribute to the genetic etiology of complex traits, whether their impacts manifest through the same effector genes and molecular mechanisms is not well understood. Here, we ...

Abstract Background Children with congenital and acquired heart disease (CAHD) are at high risk for venous thromboembolism (VTE). Traditional anticoagulants such as vitamin K antagonists (VKAs) and low-molecular-weight h...

Behcet's disease (BD) is a systemic chronic vasculitis of unknown aetiology characterised by mainly oro-genital ulcers. Renal involvement in BD is seen much less frequently than one would expect in a systemic vasculitis....

Abstract Background Wilson disease (WD) is a rare inherited copper metabolism disorder with variable prevalence worldwide. Many regions lack reliable data, leading to underestimation of burden. WD presents with hepatic, ...

BackgroundBockenheimer disease is a rare subtype of venous malformations that involves all tissue planes of an upper extremity. This condition progresses throughout life and may cause pain, swelling, hematologic complica...

Background: Crohn’s disease (CD) and ulcerative colitis (UC) are the two major relapsing conditions of inflammatory bowel diseases. Case Report: A case of Crohn’s disease with orofacial manifestations in a 10 year ol...

Rosai-Dorfman Disease is a granulomatous disease of unknown etiology that is characterized by painless massive lymphadenopathy. It is also known as Sinus histiocytosis. Acute renal failure with sinus histiocytosis has be...

Type 2N is a relatively rare form of von Willebrand disease (VWD), with a frequency calculated in

Materias / palabras clave: rare disorders; neurodevelopment; sleep disorder; wearables; sleep architecture

The Laurence Moon Bardet Biedl syndrome (LMBBS), is a rare autosomal recessive disorder characterized by obesity, mental retardation, polydactly, hypogonadism and retinitis pigmentosa. Kidney failure, diabetes mellitus, ...

BackgroundHydatid cyst is a zoonotic infection caused by the larval stage of Echinococcus granulosus. While the lungs are frequently affected, rib involvement and chest wall invasion are extremely rare, occurring in less...

Abstract Background The coexistence of renal artery stenosis (RAS) and acute tubulointerstitial nephritis (ATIN) is exceptionally rare. While imaging studies are essential for diagnosing RAS, noninvasive tests such as re...

Adrenal gland tumors are uncommon in dogs, and the simultaneous presence of epithelial and mesenchymal neoplasms within a single adrenal gland is exceptionally rare. We describe a rare case of an adrenocortical adenoma a...

Abstract Nephrotic syndrome is a glomerular disorder characterized by heavy proteinuria and hypoalbuminemia. Autoantibodies against slit diaphragm proteins such as nephrin and podocin have been identified in subsets of p...

RELA-related disease is a rare, autosomal-dominant condition presenting with immune dysregulation and immunodeficiency. RELA encodes the p65 subunit, a component of the canonical NFκB pathway. The underlying pathogenesi...

Abstract Endometriosis is a complex disease that affects 10-15% of women of reproductive age. Familial studies show that relatives of affected patients have a higher risk of developing the disease, implicating a genetic ...

Localized scleroderma is a rare autoimmune disorder affecting the dermis, subcutaneous tissue and deeper structures. The course of localized scleroderma includes three stages: early inflammation, progressive sclerosis an...

Abstract Hepatic Epstein-Barr virus-positive inflammatory follicular dendritic cell sarcoma (EBV+IFDCS) is an extremely rare low-grade malignant tumor. Due to its rarity and lack of specific symptoms, laboratory markers,...

Psychotic manifestations of brain tumours are rare but described in the literature mostly along with other neurological deficits. Memory loss, difficulty in attention and concentration, depression, anxiety, and mood symp...

Pustular rosacea is a rare chronic inflammatory disease whose prevalence increases with age. We report a case of an 8-year-old patient who presented with a 3-year history of recurrent papulopustular facial eruptions asso...