Search results for "GENI"
showing 10 items of 6843 documents
21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
2005
Congenital adrenal hyperplasia (CAH) comprises autosomal recessive disorders mainly due to defects in the 21-hydroxylase (CYP21) gene.The study aimed to perform molecular characterization in 43 Romanian patients with classical CAH forms diagnosed at the Center for Genetic Diseases of the Pediatric Clinic/University Cluj (38 with 21-hydroxylase deficiency, five with 11beta-hydroxylase deficiency), to determine the frequency of mutations in the CYP21A2 gene and attempt a genotype-phenotype correlation in patients with 21-hydroxylase deficiency.Molecular analysis was performed by direct sequencing of PCR amplified products of the CYP21A2 and CYP11B1 genes.The most frequent mutation in Romanian…
Oral peripheral ameloblastoma: A retrospective series study of 25 cases
2018
Background Peripheral ameloblastoma (PA) is a rare and unusual variant of odontogenic tumor, which was described only in isolated case reports in literature. The objective of this study was to investigate the clinical profile, treatment and outcome of PA in a consecutive case series. Material and Methods A total of 25 patients with histologically confirmed PA from 2001 to 2015 were retrospectively reviewed in our institution. Results Of the 25 patients, 22 males and 3 females were identified (male: female = 7.3:1). The average age was 48.3 years (range 11-81 years) with lingual or palate gingival region being the most common site (76%). The course of disease was less than 6 months in 92.0% …
Kallikrein–kinin system and fibrinolysis in hereditary angioedema due to factor XII gene mutation Thr309Lys
2009
In a subgroup of hereditary angioedema (HAE) patients with normal C1-esterase inhibitor levels, HAE is caused by a Thr309Lys mutation in the coagulation factor XII (F12) gene. The aim of this study was to examine elements of the kallikrein-kinin system ('contact system') and the downstream-linked coagulation, complement and fibrinolytic systems in the plasma of six patients with HAE caused by the Thr309Lys mutation and healthy probands. Blood samples were taken from participants during the symptom-free interval between attacks. Samples were analyzed for activity and concentrations of components of the kallikrein-kinin system and linked enzyme systems. The mean FXII clotting activity was 90%…
Odontogenic tumours in Nigeria : a multicentre study of 582 cases and review of the literature
2018
Background The objective of this study was to classify the various types of odontogenic tumours (OTs) using the newly updated 2017 world health organization (WHO) histological typing and to analyze the prevalence of these tumours among Nigerians as well as to compare the results obtained with reports from world-wide studies. Material and Methods The records of four major tertiary hospitals in Nigeria were reviewed over a 12-year (2004-2015) period. Lesions diagnosed as odontogenic tumours were classified into four groups according to the 2017 WHO histological typing. Data which consisted of age, sex and site were analyzed using SPSS for Window (version 20.0; SPSS Inc., Chicago, IL) and freq…
Hepatic focal nodular hyperplasia: contrast-enhanced ultrasound findings with emphasis on lesion size, depth and liver echogenicity
2010
To correlate contrast-enhanced ultrasound (CEUS) findings of hepatic focal nodular hyperplasia (FNH) with lesion size, depth and liver echogenicity and to compare CEUS with baseline US. Two radiologists evaluated baseline US and CEUS examinations of 92 FNHs (mean size: 3.1 +/- 1.7 cm) in 71 patients (59 women and 12 men) to detect the "spoke-wheel" sign, central scar and feeding vessel. The FNHs were grouped and analysed by dimension, depth and liver echogenicity. At least one sign could be detected at CEUS in 27 out of 36 (75%) FNHs larger than 3 cm and in 17 out of 56 (30%) FNH measuring 3 cm or less (p 0.05) as well as between CEUS or baseline US/CD with regard to lesion size, depth or l…
Prevalence and distribution of odontogenic and nonodontogenic cysts in a Turkish Population
2011
Objective: To determine the relative frequency and distribution of odontogenic and nonodontogenic cysts in a large Turkish population. Study Design A retrospective survey of jaw cysts was undertaken at the Oral Diagnosis and Radiology and Oral and Maxillofacial Surgery Department, Ondokuz Mayıs University Dental School, Samsun, Turkey. Data were retrieved from clinical files, imaging, and histopathology reports from 2000 to 2008; a total of 12,350 patients were included. In each case, we analyzed age, gender, type and number of cysts, and cyst location. Imaging patterns and pathologies associated with cystic lesions were also determined. Results: The prevalence of odontogenic and nonodontog…
Urinary cytology and nuclear matrix protein 22 in the detection of bladder cancer recurrence other than transitional cell carcinoma
2008
OBJECTIVE: To assess the value of nuclear matrix protein-22 (NMP22), compared with urinary cytology, in predicting the recurrence of bladder cancer that is not transitional cell carcinoma (non-TCC). PATIENTS AND METHODS: We tested the sensitivity, specificity and the predictive accuracy of NMP22 in the context of non-TCC bladder cancer recurrence, and compared it to the performance of urinary cytology. The study group comprised 2687 patients with history of non-muscle-invasive bladder cancer from 10 centres across four continents. RESULTS: The mean patient age was 64.8 years and 75.4% were men; of all patients, 513 (19.1%) had positive urinary cytology, 906 (33.7%) had a positive NMP22 test…
Nomograms including nuclear matrix protein 22 for prediction of disease recurrence and progression in patients with Ta, T1 or CIS transitional cell c…
2005
ABSTRACT Purpose: We developed and validated nomograms that accurately predict disease recurrence and progression in patients with Ta, T1, or CIS transitional cell carcinoma (TCC) of the bladder using a large international cohort. Methods: Univariate and multivariate logistic regression models targeted histologically confirmed disease recurrence, and focused on 2,542 patients with bladder TCC from 10 participating centers. Variables consisted of pre-cystoscopy voided urine Nuclear Matrix Protein 22 (NMP22) assay, urine cytology, age and gender. Resulting nomograms were internally validated with bootstrapping. Nomogram performance was explored graphically with Loess smoothing plots. Results:…
URINARY DIVERSION AND ORTHOTOPIC BLADDER SUBSTITUTION IN CHILDREN AND YOUNG ADULTS WITH NEUROGENIC BLADDER: A SAFE OPTION FOR TREATMENT?
2000
Combined pharmacotherapy, clean intermittent catheterization and infection prophylaxis is currently the gold standard of treatment for neurogenic bladder. However, as the adolescent gains independence from parental supervision, the intervals of clean intermittent catheterization compliance with medical treatment and regularity of followup examinations may decrease, and neurological and/or orthopedic status may change. This situation sometimes leads to failure of conservative treatment, resulting in incontinence and/or deterioration of the upper urinary tract. A multidisciplinary team was established at our institution 30 years ago to assess all aspects of care for patients with neurogenic b…
Radical surgery and different types of urinary diversion in patients with rhabdomyosarcoma of bladder or prostate--a single institution experience.
2013
Abstract Purpose In a retrospective study we analyzed the outcome of patients treated for rhabdomyosarcoma (RMS) of the bladder/prostate with special attention to radical surgery. Methods In 25 patients with genitourinary RMS (15 bladder/10 prostate) the median age at diagnosis was 4 years [1] , [2] , [3] , [4] , [5] , [6] , [7] , [8] , [9] , [10] , [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] , and 8 patients had a stage II RMS, 12 stage III and 5 stage IV. In 19/25 (12 bladder/7 prostate), radical surgery and urinary diversion were performed. Urinary diversion comprised 2 continent anal diversions, 11 continent cutaneous diversions, 4 colon conduits and 2 urethral diversions (2 +…