Search results for "Cohort Study"
showing 10 items of 3811 documents
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
2018
ObjectiveTo describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified.MethodsPatients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease in Spain (n = 53) were screened for BIN1 mutations. Clinical, histologic, radiologic, and genetic features were analyzed.ResultsEighteen patients from 13 families carried the p.Arg234Cys variant; 16 of them were homozygous for it and 2 had compound heterozygous p.Arg234Cys/p.Arg145Cys mutations. Both BIN1 variants have only been identified in Roma, causing 100% of CNM in this ethnic group in our cohort. The haplotype analysis confi…
Recurrent episodes of skin angioedema and severe attacks of abdominal pain induced by oral contraceptives or hormone replacement therapy
2003
Abstract Purpose Recurrent angioedema, characterized by skin swelling, colicky attacks of abdominal pain, and life-threatening laryngeal edema, can be either hereditary or acquired. According to anecdotal reports, it may be associated with use of oral contraceptives and hormone replacement therapy. We investigated potential interactions between these medications and various types of recurrent angioedema in a large cohort of women. Methods Women with recurrent angioedema (n = 516) underwent a thorough medical evaluation. They were then classified by type of angioedema, using standard criteria. Results Of the 516 women, 228 (44%) had used oral contraceptives or hormone replacement therapy, in…
Can We Define the Risk of Lymph Node Metastasis in Early-Stage Cervical Cancer Patients? A Large-Scale, Retrospective Study
2017
BACKGROUND: Sentinel lymph node (SLN) biopsy has emerged as one of the most appreciated techniques for reducing the rate of complete lymph node dissection (LND) performed in patients with early-stage cervical cancer (ECC). However, its performances are still a matter of debate and, to improve them, international guidelines recommend performing at least unilateral LND in case of SLN mapping. In a prior study, we identified a group of patients without evidence of lymph node metastasis (LNM). Our objective is to define a precise risk of LNM for each ECC patient in order to significantly tailor surgery for ECC. METHODS: Clinical and pathological data of ECC patients were retrospectively collect…
Body shape trajectories and risk of breast cancer: results from the SUN ('Seguimiento Universidad De Navarra') Project.
2021
AbstractObjective:The aim of this study was to assess body shape trajectories in childhood and midlife in relation to subsequent risk of breast cancer (BC) in a Mediterranean cohort.Design:The ‘Seguimiento Universidad de Navarra’ (SUN) Project is a dynamic prospective cohort study of university graduates initiated in 1999. With a group-based modelling approach, we assessed body shape trajectories from age 5 to 40 years. Multivariable Cox regression models were used to estimate the hazard ratio (HR) for BC after the age of 40 years according to the body shape trajectory.Setting:City of Pamplona, in the North of Spain.Participants:6498 women with a mean age of 40 years (sd9).Results:We identi…
Does the level of serum antimüllerian hormone predict ovulatory function in women with polycystic ovary syndrome with aging?
2012
Abstract OBJECTIVE: To determine possible prediction of regular menses with aging in anovulatory women with polycystic ovary syndrome (PCOS). DESIGN: Cohort. SETTING: Academic practice. PATIENT(S): A total of 54 anovulatory women with PCOS and 28 age- and weight-matched control subjects. INTERVENTION(S): Blood and ovarian ultrasound at baseline and after 5 years. MAJOR OUTCOME MEASURE(S): Serum antimüllerian hormone (AMH), gonadotropins, androgens, insulin sensitivity, and ovarian ultrasound. RESULT(S): After 5 years, there was a significant decrease in AMH in women with PCOS and control subjects (10 of 54 anovulatory women became ovulatory after 5 years). There was a significant negative c…
AMH MEASUREMENT VERSUS OVARIAN ULTRASOUND IN THE DIAGNOSIS OF POLYCYSTIC OVARY SYNDROME IN DIFFERENT PHENOTYPES.
2015
This study was designed to assess the value of serum anti-Müllerian hormone (AMH) in the diagnosis of polycystic ovary syndrome (PCOS) in various phenotypes and to assess ovarian ultrasound parameters.We performed a retrospective matched controlled study of 113 females with various PCOS phenotypes and 47 matched controls. The diagnostic utility of AMH measurement and ovarian ultrasound were compared. Using receiver operating characteristic (ROC) curve analyses, the threshold for AMH (4.7 ng/mL) and ultrasound parameters (follicle number per ovary [FNPO]22 and ovarian volume [OV]8 cc) were established.In the entire cohort, AMH had a low sensitivity of 79%; while FNPO and OV were 93% and 68%,…
The impact of orthognathic surgery on quality of life in individuals with oral clefts
2021
Summary Background/objectives To evaluate the relationships between individual, environmental, clinical factors and oral health-related quality of life (OHRQoL) in patients with cleft lip and palate (CLP) following orthognathic surgery. Materials and methods A follow-up study was conducted involving 69 adults with unilateral and bilateral CLP under orthodontic treatment. Interviews and oral examinations were conducted prior to orthognathic surgery (T0) to evaluate age, gender, psychological well-being, dental caries, malocclusion, social support, social networks, family income and education and OHRQoL. All participants were reviewed after 6 months (T1) to re-assess psychological well-being,…
Factors associated with epiphora following orbital‐sparing maxillectomy via modified Weber–Ferguson incision with lower blepharoplasty
2021
Purpose The aims of the study were to estimate the frequency of epiphora and to identify factors associated with epiphora after orbital-sparing maxillectomy via modified Weber-Ferguson incision with lower blepharoplasty (OSOSM-MWFILB). Methods We performed a retrospective cohort study enrolling a sample derived from the patient population undergoing OSM-MWFILB over a 7-year period. The predictor variables were grouped into demographic, related health status, anatomic, tumor-specific, and therapeutic categories. The primary outcome variable was the presence of postmaxillectomy epiphora (PME). Descriptive, univariate, and multivariate regression mixed-effect models were computed. Results The …
Clinical profiles and quality of care of subjects with type 2 diabetes according to their cardiovascular risk: an observational, retrospective study
2021
Abstract Background The European Society of Cardiology (ESC) recently defined cardiovascular risk classes for subjects with diabetes. Aim of this study was to explore the distribution of subjects with type 2 diabetes (T2D) by cardiovascular risk groups according to the ESC classification and to describe the quality indicators of care, with particular regard to cardiovascular risk factors. Methods The study is based on data extracted from electronic medical records of patients treated at the 258 Italian diabetes centers participating in the AMD Annals initiative. Patients with T2D were stratified by cardiovascular risk. General descriptive indicators, measures of intermediate outcomes, inten…
Within subject variability of HDL-cholesterol in HIV-infected patients
2019
Background and objective: Within-subject variability of cardiovascular risk factors may influence the development of cardiovascular disease. We aimed to improve knowledge on HDL-cholesterol variability and its clinical significance in HIV-infected patients, a population at high risk of cardiovascular disease.Methods: This was a cohort study to quantify the variability of HDL-cholesterol between two consecutive visits and to determine factors associated with such variability, in a group of HIV-infected patients.Results: A total of 307 patients were included, mean ± standard deviation of their age was 45.1 ± 8.5 years, and 225 of them (73.3%) were male. The absolute difference (after squaring…