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Polycystic kidney disease is one of the most common reasons of end stage renal failure. Polycystic kidney disease may result from many etiological factors, but frequently arises hereditarily. Autosomal dominant polycysti...

Abstract Nuclear pore complexes serve as essential gatekeepers of the nuclear envelope, playing crucial roles in regulating transport across the nuclear envelope and maintaining compartmentalization between the nucleus a...

Abstract Background Hereditary breast and ovarian cancer (HBOC) confers a markedly increased lifetime risk of breast and ovarian cancers. As no effective surveillance method for early detection of ovarian cancer has been...

Abstract Background Hereditary angioedema (HAE) is a rare, potentially life-threatening genetic disorder that is caused by C1-inhibitor (C1INH) deficiency or dysfunction. This scoping review sought to map recent advances...

AIM: We aimed to investigate especially early stage non traditional cardiovascular risk factors in end stage renal failure patients who were in Continued Ambulatory Peritoneal Dialysis (CAPD) programme in our center. M...

OBJECTIVE: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common hereditary kidney disease. We presented the ADPKD patients who were not undergoing replacement therapy. MATERIAL and METHODS: Accordin...

Podocytes are present in the glomerular capillary wall and they are the target cells injured in many diseases. In the past few years genetic studies performed especially in the familial nephrotic syndrome cases have shed...

Autosomal dominant polycystic kidney disease (ADPKD), characterized by the development of multiple cysts in the kidneys and other organs, is the most common hereditary renal disorder and the fourth leading cause of end-s...

Emily Kutrieb,1 Derek Weycker,1 Montserrat Vera-Llonch,2 Arthur Zbrozek,3 Kevin Ottino,1 William R Lumry4 1Avalere Health, Washington, DC, USA; 2Ionis Pharmaceuticals, Boston, MA, USA; 3Ionis Pharmaceuticals, Carlsbad, C...

Abstract Purpose Hereditary Angioedema (HAE) is a rare genetic condition characterised by unpredictable swelling episodes that can affect almost any part of the body, with throat swellings posing a potentially life-threa...

Abstract This update to the 2019 Canadian Hereditary Angioedema (HAE) Guideline broadens its focus to include the management of patients with HAE worldwide, building on its established international framework. It has bee...

Objective: Renal cystic diseases consist of a broad spectrum of hereditary or acquired conditions that may lead to end stage renal disease. We aimed to evaluate our patients diagnosed as renal cystic disease in terms of ...

Esraa Basalem,1 Nooran Badeeb1,2 1Department of Ophthalmology, King Fahad Armed Forces Hospital, Ministry of Defense Health Services, Jeddah, Saudi Arabia; 2Department of Surgery, Ophthalmology Division, College of Medic...

Abstract Hereditary angioedema (HAE) is a rare, potentially life-threatening genetic disorder characterized by recurrent subcutaneous and/or submucosal edema, most commonly caused by deficiency in C1-esterase inhibitor. ...

Alport’s syndrome is a hereditary kidney disease, frequently associated with hearing loss and ocular abnormalities. Type IV collagen is the main constituent of the basement membranes. Mutations in the COL4A3, COL4A4 an...

Abstract Background Circulating creatinine and symmetric dimethylarginine (SDMA) are biomarkers of kidney function that have been used variously to define stable vs progressive chronic kidney disease (CKD). Slope monitor...

Familial Hypomagnesemia- hypercalciuria is a hereditary disease of unknown etiology characterized by persistant Hypomagnesemia, incomplete distal tubuler acidosis, hypercalciuria and nephrocalcinosis. We have reported an...

Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease characterized by recurrent attacks of fever, usually accompanied by sterile polyserositis. Although colchicine is the main medical treatment...

Objective: Familial Mediterranean fever (FMF) is a hereditary disease. It usually affects countries in the Mediterranean region and is common in Turks. This retrospective study was conducted to evaluate phenotype-genotyp...

In this report, by the guidance of Turkish and international literature, the features of FMF disease in Turkish patients and the advances in related with thi disease Turkish Medicine were presented. FMF is an autosomal r...

Gyrus atrophy is a rare autosomal recessive hereditary disease secondary to a mutation of the OAT gene on chromosome 10 which results in a deficiency of the mitochondrial enzyme ornithine aminotransferase that causes a 2...

Introduction: Adrenal hemangiomas are rare benign vascular tumors of the adrenal gland and are most often discovered incidentally during imaging studies performed for unrelated conditions. Case presentation: We report th...

BackgroundAlthough drug rash with eosinophilia and systemic symptoms (DRESS) and anticonvulsant hypersensitivity syndrome are well-known complications of anti-seizure medications (ASMs), lesser-known immunologic complica...

Abstract Background Biallelic SPG7 mutations cause one of the most common forms of hereditary spastic paraplegia (HSP). Several reports have suggested that heterozygous SPG7 variants may also play a role in HSP, but also...