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IntroductionWhilst individually rare, affecting only a small percentage of the population, rare diseases as a whole impact around 6% of the global population (with this number likely an underestimate). Rare diseases are ...

The aim of this study was to analyze, through a systematic review and meta-analysis, the perceived quality of life (QoL) of children diagnosed with rare diseases and to examine potential moderating variables. Twenty-four...

Abstract Background Timely diagnosis and therapeutic management of rare diseases (RDs) are greatly hampered by limited clinical information and a lack of reliable epidemiological data. RDs constitute a heterogeneous grou...

Abstract Background The European Reference Network for rare Inherited and Congenital Anomalies (ERNICA) aims to improve care for patients with rare and complex digestive and gastrointestinal diseases across Europe throug...

BackgroundMore than one-fourth of the world’s burden of ARPC1B deficiency (ARPC1BD), a rare immune-actinopathy, is reported from Nepal, a resource-constrained Himalayan country with a single trained immunologist. The d...

Abstract Purpose Accurate measurement is essential for tracking changes in clinical outcomes. Individuals with Smith-Magenis syndrome (SMS) exhibit challenging and unique food-related behaviors. We sought to determine th...

Materias / palabras clave: rare diseases, genetic diseases, oncology, iinfectious diseases, neurology, immunology; Medicine: Internal medicine: Specialties of internal medicine

Materias / palabras clave: rare diseases, orphan drugs; Medicine

Materias / palabras clave: rare diseases, genetics, clinical medicine, clinical and molecular aspects of rare diseases, medicine; Medicine: Internal medicine

The type of mesengial proliferative glomerulonephritis having IgM deposition in DIF examination is called IgM nephropathy. A case performed renal biopsy due to urine findings and diagnosed as IgM nephropathy is presented...

Individuals who exhibit male external genitalia and testicular tissue despite a 46,XX karyotype with SRY-Negative represent an exceptionally rare phenotype of disorders of sex development (DSD), and the underlying mechan...

Gitelman syndrome is an autosomal recessive tubulopathy that is characterized by metabolic alkalosis, hypomagnesemia, hypocalciuria, secondary hyperreninemic hyperaldosteronism and low blood pressure. Acquired Gitelman s...

Uremic pruritus is a common complication of chronic renal failure. It affects approximately half of patients undergoing dialysis treatment. Even if the pruritus is not hazardous alone, it causes physical and mental fatig...

Abstract Background Hypoxia is a key driver of fibrosis and is associated with capillary rarefaction in humans. Objectives Characterize capillary rarefaction in cats with chronic kidney disease (CKD). Animals Archival ki...

Castleman disease (CD) is a rare lymphoproliferative disorder classified into unicentric and multicentric forms, with unicentric disease typically presenting as a localized and benign condition that can be difficult to d...

ObjectiveTo enhance the understanding, diagnosis, and management of retroperitoneal mixed type unicentric Castleman disease.MethodsThis report describes a case of retroperitoneal mixed type unicentric Castleman disease m...

Abstract Rare disease gene discovery is limited by small cohorts and the frequent absence of matched controls. We present the Case-Only Burden Test (COBT), a gene-based burden test for case-only designs accounting for mu...

Myelodysplasia syndromes (MDS) are a heterogenous group of clonal stem cell disorders which generally occur in adults. MDS are rare seen in patients with end-stage renal disease (ESRD). In this study, we presents a 38-ye...

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 ...

Glomerulocysüc kidney disease (GCKD) is an unusual form of cystic renal diseases in childhood characterized pathologically by cystic dilatations in Bowman's space. GCKD may be relatively underreported in children with e...

Primary lymphedema is a rare disease caused by a disorder of lymphatic system. Clinical presentation and age at onset are variable. AA amyloidosis is usually due to chronic inflammatory diseases, malignant tumors or less...

Light chain deposition disease (LCDD) is a rare disease and the most common subtype of monoclonal immunglobulin deposition disease (MCDD). The most commonly affected organ is the kidney, characterized by nodular glomerul...

McArdle Disease (Glycogen Storage Disorder Type V) is one of the most common inherited genetic alterations known to increase the risk of rhabdomyolysis. It is characterized by glycogen phosphorilase deficiency and is gen...

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...