Results 31 to 40 of about 1,064,760 (292)
Frontiers in Endocrinology, 2023 BackgroundWhether familial thyroid cancer is more aggressive than sporadic thyroid cancer remains controversial. Additionally, whether the number of affected family members affects the prognosis is unknown.
Zhuyao Li +6 more
doaj +1 more source
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +3 more sources
International Journal of Cardiology Congenital Heart DiseaseIntroduction: The number of adults with congenital heart disease has significantly increased in recent years. While telemedicine has emerged as a promising approach to improve care delivery and patient outcomes, its use for adults with congenital ...
Nunzia Borrelli +8 more
doaj +1 more source
New approaches in detection and treatment of familial hypercholesterolemia [PDF]
, 2015 Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that clinically leads to increased low density lipoprotein-cholesterol (LDL-C) levels. As a consequence, FH patients are at high risk for cardiovascular disease (CVD). Mutations
Hartgers, ML, Hovingh, GK, Ray, KK
core +3 more sources
Pediatric Hematology and Oncology, 1998 Medulloblastomas account for 20% of all primary brain tumors. The vast majority of them are sporadic. Familial medulloblastoma is very rare--only a few cases have been reported worldwide. Most were observed in siblings of the same sex. The affected children presented at various ages and all of them have died, usually within the first 2 years following ...
Moschovi, M +6 more
openaire +3 more sources
Zhongliu Fangzhi YanjiuObjectiveTo analyze the proportion and clinicopathological characteristics of HER2-positive breast cancer patients with BRCA1/2 pathogenic variants, and their response to neoadjuvant anti-HER2 targeted therapy.
Xingyu LIAO +7 more
doaj +1 more source
Eruptive syringoma: A rare case report
Clinical Dermatology Review, 2019 Syringoma is a benign adnexal tumor of intraepidermal portion of the eccrine sweat ducts. Eruptive syringoma is a rare clinical variant characterized by small, flesh-colored papules with both follicular and nonfollicular distribution that occur in ...
Shilpi Sharma +3 more
doaj +1 more source
Frontiers in Pediatrics, 2020 Left ventricular non-compaction (LVNC) is a form of cardiomyopathy characterized by prominent trabeculae and deep intertrabecular recesses which form a distinct “non-compacted” layer in the myocardium.
Hamida Al Hussein +7 more
doaj +1 more source
Turkderm Turkish Archives of Dermatology and Venereology, 2022 The pathogenesis of mycosis fungoides (MF) is poorly understood, and an immunogenetic mechanism has been suggested to play a role. Human leukocyte antigen (HLA) class II alleles DRB1*11 and DQB1*03 were found to be significantly increased for patients ...
Hatice Şanlı +4 more
doaj +1 more source
Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN) [PDF]
, 2017 Primary dyslipidemias are a heterogeneous group of disorders characterized by abnormal levels of circulating lipoproteins. Among them, familial hypercholesterolemia is the most common lipid disorder that predisposes for premature cardiovascular disease ...
Angelico, F. +13 more
core +1 more source