Results 11 to 20 of about 3,097,861 (268)

Hypereosinophilic syndromes [PDF]

open access: yesOrphanet Journal of Rare Diseases, 2003
Hypereosinophilic syndromes (HES) constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 x 10(9)/L for more than six consecutive months) associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders ...
Roufosse, Florence   +2 more
openaire   +7 more sources

Marfan syndrome: An eyesight of syndrome

open access: yesMeta Gene, 2014
Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1).
Kumar, Ashok, Agarwal, Sarita
openaire   +2 more sources

Pendred Syndrome, or Not Pendred Syndrome? That Is the Question [PDF]

open access: yesGenes, 2021
Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without hypothyroidism. SLC26A4 is the major gene involved, even though ~50% of the patients carry only one pathogenic mutation.
Paola Tesolin   +11 more
openaire   +3 more sources

Myelodysplastic syndromes with nephrotic syndrome [PDF]

open access: yesAmerican Journal of Hematology, 1999
It is sometimes reported that the immunological abnormalities in myelodysplastic syndromes (MDS) induce autoimmune disease (i.e., acute systemic vasculitic syndrome, chronic cutaneous vasculitis, polyneuropathy, relapsing polychondritis, and steroid-responsive pulmonary disorders).
T, Saitoh   +10 more
openaire   +2 more sources

Metabolic Syndrome in Cushing’s Syndrome [PDF]

open access: yesNeuroendocrinology, 2010
Although the concept of metabolic syndrome (MetS) as a disease entity continues to be debated, it provides a means by which patients at risk for diabetes and cardiovascular disease can be identified and categorized with routinely available criteria. Insulin resistance plays a central role in these abnormalities.
Philippe, Chanson, Sylvie, Salenave
openaire   +2 more sources

Eagle syndrome or Stylohyoid syndrome?

open access: yesNeurología (English Edition), 2011
Cantin, LM (reprint author), Univ Talca, Dept Ciencias Basicas & Biomed, Talca, Chile.
Cantin, L.M., Galdames, I.S.
openaire   +2 more sources

Down regulation of Cathepsin W is associated with poor prognosis in pancreatic cancer

open access: yesScientific Reports, 2023
Pancreatic ductal adenocarcinoma (PDAC) is associated with a very poor prognosis. Therefore, there has been a focus on identifying new biomarkers for its early diagnosis and the prediction of patient survival.
Fatemeh Khojasteh-Leylakoohi   +19 more
doaj   +1 more source

Anticardiolipin syndrome: antiphospholipid syndrome [PDF]

open access: yesClinical Medicine, 2001
La detection d'anticorps antiphospholipides est a l'origine du syndrome des antiphospholipides caracterise par des pathologies vasculaires et des fausse-couches chez la femme ...
openaire   +2 more sources

Acute abdomen in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome [PDF]

open access: yesVojnosanitetski Pregled, 2008
Background. Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a malformation of female genital tract (incidence 1 in 4000 female newborn children). It appears as a result of a disorder in the development of Millerian cannals.
Petrić Aleksandra   +5 more
doaj   +1 more source

Integrated multi-omics analysis reveals the functional signature of microbes and metabolomics in pre-diabetes individuals

open access: yesMicrobiology Spectrum
Pre-diabetes (PD) represents a critical stage in the progression toward type 2 diabetes, with significant alterations observed in the human microbial community among pre-diabetic individuals in observational studies.
Yanmin Liu   +15 more
doaj   +1 more source

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