Search results for "FATE"
showing 10 items of 765 documents
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
2004
AbstractPendred syndrome (PS) is the most common cause of syndromic deafness, accounting for more than 5% of all autosomal-recessive hearing loss cases. It is characterized by bilateral sensorineural hearing loss and by goiter with or without hypothyroidism. Mutations in the SLC26A4 gene cause both classical PS and deafness associated with an enlarged vestibular aqueduct without goiter.To investigate a possible genotype-phenotype correlation in PS, we performed a detailed clinical and genetic study in three adult German sibs with typical PS caused by a common homozygous SLC26A4 mutation, T416P. An audiological long-term follow-up of 23 yr showed that the mutation T416P is associated with a …
Prevalence of idiopathic hirsutism.
1998
Objective: To evaluate the prevalence of idiopathic hirsutism in a large population of hirsute women. Design: 588 hirsute women (mean age 24 6 1, range 15‐36 years) were evaluated as outpatients at the Department of Endocrinology of the University of Palermo, Italy. The diagnosis of idiopathic hirsutism was established in hirsute patients presenting regular ovulatory menstrual cycles and normal serum androgen levels (total testosterone, unbound testosterone and dehydroepiandrosterone sulfate). Methods: Hirsutism was calculated by the Ferriman-Gallwey-Lorenzo index. Serum androgens were evaluated in the follicular phase (days 5 or 6) and normal androgen ranges were calculated as the mean 6 2…
Clinical and endocrine characteristics of the main polycystic ovary syndrome phenotypes
2009
Abstract OBJECTIVE: To evaluate the clinical and endocrine differences between main polycystic ovary syndrome (PCOS) phenotypes. DESIGN: To evaluate clinical and hormone parameters in a large group of consecutive women with PCOS diagnosed according Rotterdam criteria and divided according their phenotype. SETTING: University department of medicine. PATIENT(S): Three hundred eighty-two consecutive women with PCOS and 85 ovulatory controls. INTERVENTION(S): Evaluation of clinical and hormone parameters. MAIN OUTCOME MEASURE(S): Blood levels of gonadotropins, testosterone, sex-hormone-binding globulin, dehydroepiandrosterone sulfate, 17α-hydroxyprogesterone, progesterone, glucose, and insulin,…
Sputum metalloproteinase-9/tissue inhibitor of metalloproteinase-1 ratio correlates with airflow obstruction in asthma and chronic bronchitis
1998
Asthma and chronic bronchitis are inflammatory diseases with extracellular matrix (ECM) remodeling and collagen deposition. Collagen homeostasis is controlled by metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs). We evaluated MMP and TIMP balance in induced sputum of 10 control, 31 untreated asthmatic, and 16 chronic bronchitic subjects. We first performed zymographic analysis to identify the profile of MMPs. Zymography revealed a similar MMPs profile in all populations studied and that MMP-9 was the major enzyme released. We then measured, using enzyme immunoassay, the concentrations of MMP-9 and of its inhibitor TIMP-1 and evaluated whether airflow limitation m…
Accuracy of the water-siphon test associated to barium study in a high prevalence gastro-oesophageal reflux disease population: a novel statistical a…
2010
Abstract RATIONALE, AIMS AND OBJECTIVES: Gastro-oesophageal reflux disease (GORD) is 'a condition which develops when the reflux of gastric content causes troublesome symptoms or complications'. Instrumental diagnostic tests generally used for GORD are 24-hour pH-metry and upper gastrointestinal (GI) endoscopy but barium study associated with provocative manoeuvres such as the water-siphon test (WST), has also been used for GORD. The aim of this paper was to estimate the accuracy of several tests in patients with GORD in a tertiary care setting, focusing on WST, which is rapid and non-invasive, simple to perform and well-tolerated by patients. METHOD: A total of 172 consecutive patients, sy…
Increased DHEAs levels in PCO syndrome: evidence for the existence of two subgroups of patients
1986
In 49 patients affected by PCO syndrome the serum levels of dehydroepiandroster-one-sulphate (DHEAs) were determined and correlated with the cfinical presentation and the endocrine pattern. Twenty-three patients (47%) had high DHEAs levels (h-DHEAs patients). They presented a milder clinical presentation (low incidence of amenorrhea) than PCO patients with normal DHEAs levels (n-DHEAs patients). In h-DHEAs patients the finding of a normal DHEAs. response to ACTH and of slightly increased 17OHP serum levels suggested that the elevation of serum DHEAs was not due to an adrenal enzymatic deficiency but to a tonic hyperstimulation of the adrenals. Two subgroups of h-DHEAs patients were identifi…
Reassessment of adrenal androgen secretion in women with polycystic ovary syndrome
1995
Objective To reevaluate the clinical significance of elevations of adrenal androgens in polycystic ovary syndrome (PCOS). Methods Thirty women with PCOS and ten ovulatory controls were evaluated. Serum dehydroepiandrosterone (DHEA) sulfate and 11β-hydroxyandrostenedione were measured before and after 3 and 6 months of GnRH agonist (GnRH-A) therapy. All controls and 15 women with PCOS received intravenous ACTH before and after GnRH-A therapy. Results Twenty-one (70%) of the women with PCOS had elevations of DHEA sulfate, and 16 (53%) had elevations in 11/3-hydroxyandrostenedione. Only two women with PCOS had normal values of both adrenal androgens. After GnRH-A therapy, only 11 subjects (37%…
The ratio of androstenedione: 11β-hydroxyandrostenedione is an important marker of adrenal androgen excess in women
1992
To determine if the ratio of serum androstenedione (A):11 beta-hydroxyandrostenedione (OHA) would be helpful in differentiating adrenal from ovarian hyperandrogenism.Prospective study of outpatients being evaluated for hyperandrogenism.Normal women (n = 27), those with hyperandrogenic chronic anovulation (n = 25), and 7 with adult onset of congenital adrenal hyperplasia (CAH) because of 21-hydroxylase deficiency.Fasting serum between 8:00 A.M. and 9:00 A.M. Patients with hyperandrogenic chronic anovulation and CAH received dexamethasone (DEX) 2 mg for 7 days.Serum testosterone (T), unbound T, dehydroepiandrosterone sulfate (DHEAS), A, and 11 beta-OHA by radioimmunoassay.Serum 11 beta-OHA an…
Extracorporeal circuit heparinization in selective low density lipoprotein apheresis: changes in patient hemostasis and low molecular weight heparin …
1993
Treatment by low density lipoprotein (LDL) apheresis using dextran sulfate columns (DSC) leads to hemostasis alterations with prolonged activated partial thromboplastin time (APTT) of more than 120 seconds. In order to explain this hypocoagulability, we studied hemostasis parameters both in patients and in the extracorporeal circulation (ECC). Hemostasis changes are first related to unfractionated heparin (UFH)—needed to avoid circuit coagulation—which leads to high residual heparinemia in the patient (more than 3 times the recommended level for therapeutic use). Second, the hypocoagulability is induced by a coagulation factor decrease (primarily factors V, VIH, and X) mainly due to an adso…
Lower insulin sensitivity differentiates hirsute from non-hirsute Sicilian women with polycystic ovary syndrome
2006
Objective: It is well known that hyperandrogenism and insulin-resistance with or without compensatory hyperinsulinism are closely associated, but the Rotterdam Consensus has concluded that principally obese women with polycystic ovary syndrome (PCOS) should be evaluated for the metabolic syndrome. Our aim was to study insulin sensitivity in PCOS women with hirsutism regardless of obesity. Methods: Clinical characteristics, sex hormones and fasting- and after OGTT-glycemia and insulinemia, homeostatic model of insulin resistance (HOMA IR), and Matsuda index of insulin sensitivity were analyzed in 130 women with PCOS. Hirsutism has been evaluated through the Ferriman–Gallwey (FG) map scoring …