Search results for " Testing"

Kyphoscoliosis ventilatory insufficiency: noninvasive management outcomes.

2000

Objective: To determine the effects on symptoms, pulmonary function, sleep, and other clinical variables of treating kyphoscoliosis-associated chronic alveolar hypoventilation with nocturnal nasal ventilation. Design: Sixteen patients with kyphoscoliosis were treated with nocturnal nasal ventilation delivered by volume-cycled (seven patients) and pressure-cycled (nine patients) ventilators. Dyspnea, morning headaches, fatigue, hypersomnolence, and perceived sleep quality were assessed. Results: All pretreatment symptoms improved significantly with nasal ventilation. Likewise, Pao 2 (mm Hg), Pao 2 /Fio 2 , Paco 2 (mm Hg), pH, and forced vital capacity (in milliliters and as a percentage of p…

Similar contributions of BRCA1 and BRCA2 germline mutations to early-onset breast cancer in Germany.

2003

This study was undertaken to investigate the prevalence of BRCA1 and BRCA2 germline mutations in 91 German patients unselected for family history, who were diagnosed with breast cancer before the age of 41 years. Clinical information and blood samples were obtained from all patients. A comprehensive BRCA1 and BRCA2 mutational analysis was performed using the protein truncation assay and single-strand conformational polymorphism analysis followed by DNA sequencing of variant signals detected by these assays. Five different deleterious germline mutations including four frameshift mutations and one missense mutation were identified, three in BRCA1 (3.3%) and two mutations (2.2%) in BRCA2. Both…

Refractory Acne and 21-Hydroxylase Deficiency in a Selected Group of Female Patients.

2009

<i>Background:</i> Excessive androgen production, suspected in women when acne is accompanied by hirsutism and menstrual irregularities, may be due to congenital adrenal hyperplasia. This inherited disorder of cortisol biosynthesis is caused in more than 90–95% of all cases by 21-hydroxylase deficiency (21-OHD). The steroid 21-hydroxylase gene <i>(CYP21)</i> has a high degree of variability. <i>Objective:</i> This study was conducted to evaluate <i>CYP21 </i>gene mutations in a selected group of women with papulopustular and comedonal acne refractory to treatment, irregular menses and hirsutism. <i>Methods:</i> 30 out of 61 women e…

Prevalence and pattern of cognitive impairment in systemic lupus erythematosus patients with and without overt neuropsychiatric manifestations

2001

The prevalence and pattern of cognitive impairment in systemic lupus erythematosus (SLE) patients with (NPSLE) and without (nSLE) overt neuropsychiatric manifestations were investigated. Fifty-two nSLE patients, 23 NPSLE patients and 27 healthy controls were evaluated with a battery of standardized neuropsychological and psychological tests. Disease duration, disease activity index, and current corticosteroid therapy were collected. Cognitive impairment was identified in 14 (26.9%) and in 12 (52.2%) of subjects with nSLE and NPSLE, respectively. Both SLE groups showed a significant impairment compared with controls on tasks assessing verbal and non-verbal long-term memory, and visuoconstruc…

A further patient with genitopatellar syndrome requiring multidisciplinary management.

2020

Impact of chromosomal abnormalities on preimplantation embryo development.

2007

Objectives To evaluate the influence of numerical chromosomal abnormalities on preimplantation embryo development. Methods This study includes 6936 embryos from 1245 women undergoing preimplantation genetic diagnosis (PGD). Indications for aneuploidy screening were: recurrent miscarriages, implantation failure, severe male factor, advanced maternal age, and mixed causes. Embryo biopsy was performed on day 3, and embryos were co-cultured until day 5, when embryo transfer was performed. Results In the aneuploidy screening regimen, normal euploid embryos showed significantly higher blastocyst rates (68.2%) compared to chromosomally abnormal (42.8%, p < 0.0001) and mosaic (53.7%, p < 0.0001) em…

Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.

2004

Mucopolysaccharidosis IVA (MPS IVA), a progressive lysosomal storage disease, causes skeletal dysplasia through excessive storage of keratan sulfate (KS). We developed an ELISA-sandwich assay that used a MAb specific to KS. Forty-five blood and 59 urine specimens from MPS IVA patients (ages 1–65 y) were analyzed to determine whether KS concentration is a suitable marker for early diagnosis and longitudinal assessment of disease severity. Blood specimens were obtained from patients categorized as phenotypically severe (n = 36) and milder (n = 9). Urine specimens were also analyzed from patients categorized as severe (n = 56) and milder (n = 12), respectively. Blood KS levels (101–1525 ng/mL)…

Vitrification of preimplantation genetically diagnosed human blastocysts and its contribution to the cumulative ongoing pregnancy rate per cycle by u…

2008

Objective To evaluate the survival rate and clinical results of our vitrification procedure on preimplantation genetic diagnosis (PGD) blastocysts and to calculate its actual contribution to the reproductive outcome per cycle. Design Retrospective clinical study. Setting University Institute IVI, Valencia, Spain. Patient(s) Patients who requested cryotransfer of surplus PGD blastocysts after failed fresh elective transfer. Intervention(s) Retrospectively collected data during 2 years of experience with blastocyst vitrification. Main Outcome Measure(s) Primary outcome measures were the following: blastocyst recovery and survival; cryotransfer cancellation; and the implantation, pregnancy (PR…

Psychological assessment of patients with temporomandibular disorders: confirmatory analysis of the dimensional structure of the Brief Symptoms Inven…

2006

Abstract Objective This article analyzes the psychometric and structural properties of the Brief Symptoms Inventory 18 in a sample of patients with temporomandibular disorders (TMDs), given the convenience of a brief evaluation of distress in these patients. Methods Confirmatory factor analysis was carried out in a sample of 114 patients with TMDs. Two models were tested: the theoretical model with the original structure proposed—which considers three dimensions—and the empirical model obtained through the exploratory factor analysis initially carried out by Leonard R. Derogatis—which consists of the four-factor structure. Results Both models reached satisfactory indexes in confirmatory fac…

Missed opportunities for tuberculosis investigation in a municipal hospital in Ghana: evidence from patient exit interviews

2020

Abstract Background We assessed coverage of symptom screening and sputum testing for tuberculosis (TB) in hospital outpatient clinics in Ghana. Methods In a cross-sectional study, we enrolled adults (≥18 years) exiting the clinics reporting ≥1 TB symptom (cough, fever, night sweats or weight loss). Participants reporting a cough ≥2 weeks or a cough of any duration plus ≥2 other TB symptoms (per national criteria) and those self-reporting HIV-positive status were asked to give sputum for testing with Xpert MTB/RIF. Results We enrolled 581 participants (median age 33 years [IQR: 24–48], 510/581 [87.8%] female). The most common symptoms were fever (348, 59.9%), chest pain (282, 48.5%) and coug…