Search results for " geni"
showing 10 items of 1026 documents
New loci associated with kidney function and chronic kidney disease
2010
Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies have identified common CKD susceptibility variants. The CKDGen consortium performed a meta-analysis of genome-wide association data in 67,093 individuals of European ancestry from 20 predominantly population-based studies in order to identify new susceptibility loci for reduced renal function as estimated by serum creatinine (eGFRcrea), serum cystatin c (eGFRcys) and CKD (eGFRcrea 60 ml/min/1.73 m 2; n = 5,807 individuals with CKD (cases)). Follow-up of the 23 new genome-wide-significant loci (P 5 × 10 8) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or…
Diagnostic laparoscopy in a Gartner's duct cyst
2008
Gartner's duct cysts associated with renal dysgenesis are rare malformations and represent a diagnostic challenge. We report on one such case in which final diagnosis was achieved by laparoscopy and discuss the possible role of minimally invasive surgery in the management of this condition.
Hyperuricaemia and gout in cardiovascular, metabolic and kidney disease
2020
During the last century, there has been an increasing prevalence of hyperuricaemia noted in many populations. While uric acid is usually discussed in the context of gout, hyperuricaemia is also associated with hypertension, chronic kidney disease, hypertriglyceridaemia, obesity, atherosclerotic heart disease, metabolic syndrome, and type 2 diabetes. Here we review the connection between hyperuricaemia and cardiovascular, kidney and metabolic diseases. Contrary to the popular view that uric acid is an inert metabolite of purine metabolism, recent studies suggest serum uric acid may have a variety of pro-inflammatory, pro-oxidative and vasoconstrictive actions that may contribute to cardiomet…
Female Genital Mutilation Consequences and Healthcare Received among Migrant Women: A Phenomenological Qualitative Study
2021
European healthcare systems are increasingly being challenged to respond to female genital mutilation (FGM). This study explores the FGM experiences of migrant women coming from FGM-practicing countries residing in a European host country. A qualitative phenomenological study was carried out and 23 participants were included. Data were collected through 18 face-to-face open-ended interviews and a focus group and were analysed using Giorgi’s four-step phenomenological approach. Three main themes were derived: “FGM consequences”, “healthcare received” and “tackling FGM”. Participants highlighted obstetric, gynaecological and genitourinary consequences such as haemorrhages, perineal tears, cae…
Diagnosis, phenotype, and prevalence of polycystic ovary syndrome.
2006
New diagnostic criteria for polycystic ovary syndrome (PCOS) suggested three main phenotypes: classic (hyperandrogenism and anovulation), ovulatory, and normoandrogenic. However, it is unclear whether the normoandrogenic phenotype actually represents PCOS. Overall, 6% to 8% of reproductive-aged women suffer from PCOS, making this disorder one of the most common endocrine abnormalities.
Genistein and endothelial function in postmenopausal women with metabolic syndrome
2013
BackgroundPrevious data have suggested that genistein could exert beneficial effects on endothelial function and on predictors of cardiovascular risk in healthy postmenopausal women. In a randomized clinical trial, we studied the effects of genistein on endothelial function in postmenopausal women with metabolic syndrome (MS). MethodsTwenty postmenopausal women with MS, according to modified NCEP-ATP III criteria were randomly assigned to receive placebo or genistein (54mg/day) for 6months, along with a Mediterranean-style diet. Postmenopausal women without MS (n=15), served as controls. The primary goal was the assessment of endothelial function by flow-mediated vasodilation (FMD) of brach…
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.
2009
We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at the back, dry lax skin, macrostomia, thin lips, cup-shaped ears, bulbous nose, hypoplastic nipples, and abnormal external genitalia. She also demonstrated conductive hearing impairment and microblepharon. BSS has been reported with ectropion (not present in our patient), but ablepharon and microblepharon (i.e., absent or hypoplastic eyelids) have always been considered as hallmarks of ablepharon macrostomia syndrome (AMS). This is the first report of microblepharon in BSS. Other authors have discussed that BSS and AMS could possibly represent one syndrome, and our …
A Semi-automatic Multi-seed Region-Growing Approach for Uterine Fibroids Segmentation in MRgFUS Treatment
2013
Fibroids are benign tumors growing in the uterus. Most of fibroids do not require treatment unless they are causing symptoms. Traditional surgery treatments, like myomectomy and hysterectomy, are very invasive therapeutic approaches which not always preserves reproductive potential of the woman. MRgFUS, performed with Insightec ExAblate 2100 equipment, is a new and noninvasive technique for uterine fibroids treatment, not requiring hospitalization and recovery time for patients. An initial assessment of MRgFUS treatment is made by computing the ablated volume of uterine fibroid. In this paper a semi-automatic approach, based on region-growing segmentation technique, is proposed. The impleme…
Continent urinary diversion and bladder augmentation in children: the Mainz pouch procedure.
1989
The formation of a bowel reservoir of large capacity at low pressure by using small and large bowel (ileocaecal segment) has proved reliable for achieving continent urinary diversion (n = 80), for bladder augmentation (n = 42) as well as for total bladder replacement (n = 24). Encouraged by the results we obtained in our adult patients, we have used this technique during the last 3.5 years in 29 children. Indications for urinary diversions in children have been: neurogenic bladder with diplegia (n = 8), bladder exstrophy (n = 2), traumatic loss of the bladder (n = 1), urogenital sinus (n = 1) and rhabdomyosarcoma of the prostate or bladder (n = 2). Bladder augmentation was indicated in 6 ch…
Targeting Moderate and Severe Male Stress Urinary Incontinence With Adjustable Male Slings and the Perineal Artificial Urinary Sphincter: Focus on Pe…
2017
Purpose: To analyze perioperative complications and postoperative explantation rates for selected readjustable male sling systems and the perineal single-cuff artificial urinary sphincter (AUS) in a large, contemporary, multi-institutional patient cohort. Methods: Two hundred eighty-two male patients who underwent implantation between 2010 and 2012 in 13 participating institutions were included in the study (n = 127 adjustable male sling [n = 95 Argus classic, n = 32 Argus T], n = 155 AUS). Perioperative characteristics and postoperative complications were analyzed. The explantation rates of the respective devices were assessed using the Fisher exact test and the Mann-Whitney U-test. A Kapl…