Search results for "GENETICS"

METABOLIC SYNDROME FOLLOW-UP IN MENOPAUSE: A MULTIDISCIPLINARY APPROACH TO REDUCE THE CARDIOVASCULAR RISK

2009

PREVALENCE OF THYROID DISEASES IN MENOPAUSAL SICILIAN WOMEN

2009

Prenatal testosterone of progenitors could be involved in the etiology of both anorexia nervosa and autism spectrum disorders of their offspring

2014

Objectives High intrauterine testosterone (T) levels seem to play a role in the development of autism spectrum disorders (ASDs), but their role in anorexia nervosa (AN) is controversial. Parents with masculinized 2D:4D ratios, a marker of the organizational effects of T, may have other relevant biological characteristics, in particular exposing their offspring to high T levels in the prenatal environment. This would increase the likelihood of their offspring developing these disorders. Methods The present study examined whether parents of offspring with AN (n=34; mean age= 51) and ASD (n=36; mean age=45) differ from control parents (n=40; mean age=43) in 2D:4D ratio, as well as by salivary …

New and classical methods to compare oxidative stress levels and parameters of vascular function in rat models of hypertension, diabetes and nitrate …

2020

G.P.5.10 Novel FHL1 mutation in familial mixed reducing body myopathy with rigid spine

2009

Traumatic Venous Aneurysm of the Popliteal Vein with Outcome: A Case Report and Review of the Literature

2001

A case of sudden death due to recurrent pulmonary thromboembolism is described. The fatality took place three and a half weeks following blunt trauma to the left popliteal region. The patient died unexpectedly. Autopsy revealed the source of the emboli as a sacciform venous aneurysm of the popliteal vein, an entity seldom described, but important to consider in cases of soft tissue popliteal masses or unexplained pulmonary embolism, especially in otherwise healthy individuals.

2021

Abstract Background Clinical management ranges from surveillance or curettage to wide resection for atypical to higher-grade cartilaginous tumours, respectively. Our aim was to investigate the performance of computed tomography (CT) radiomics-based machine learning for classification of atypical cartilaginous tumours and higher-grade chondrosarcomas of long bones. Methods One-hundred-twenty patients with histology-proven lesions were retrospectively included. The training cohort consisted of 84 CT scans from centre 1 (n=55 G1 or atypical cartilaginous tumours; n=29 G2-G4 chondrosarcomas). The external test cohort consisted of the CT component of 36 positron emission tomography-CT scans from…

AB0467 EFFECTIVENESS OF GOLIMUMAB AFTER TNF-INHIBITOR FAILURE IN PATIENTS WITH ACTIVE RHEUMATOID ARTHRITIS, PSORIATIC ARTHRITIS, OR AXIAL SPONDYLOART…

2021

Background:Golimumab showed trial efficacy in subjects with active rheumatoid arthritis (RA) previously treated with TNF-inhibitors (TNFi); no trial data are available for psoriatic arthritis (PsA) and axial spondyloarthritis (axSpA).Objectives:To assess the effectiveness of golimumab after TNFi failure in patients with RA, PsA, or axSpA in a real-world setting.Methods:GO-BEYOND-Italy is an ongoing, multicenter, prospective, observational study of RA, PsA, or axSpA patients starting golimumab after TNFi failure. Patients were enrolled between July 2017 and December 2019, and followed for 1 year, with evaluations at 3, 6, and 12 months. This interim analysis estimates the effectiveness after…

The Burden Endured by Caregivers of Patients With Morquio A Syndrome: Results From an International Patient-Reported Outcomes Survey

2019

Abstract This international survey performed by direct personal interview or mail evaluated the global burden among primary caregivers of patients with Morquio A syndrome. Collected outcomes included self-reported time spent on caregiving, proportion of daily activities (from the Mucopolysaccharidosis Health Assessment Questionnaire) requiring caregiver assistance, and how the patient’s age and wheelchair use affect these. In addition, the impact of caregiving on the caregivers’ relationship with family and friends, physical and mental health, and employment status and income was evaluated. Caregiver burden increased with disease progression. Adult patients always using a wheelchair require…

Chromophobe Renal Cell Carcinoma

1996

SUMMARY A case ofchromophobe renal cell carcinoma is reported in a 73 year-old man. Light microscopically, the tumor was composed of polygonal cells with a slightly eosinophilic and a fine reticular pattern, and a reaction of the cytoplasm with Hale's acid iron colloid. Ultrastructural analysis showed membranous microuesicles within the tumor cells, with degenerated mitochondria. Immunohistochemical profile against intermediate filaments was positive to cytokeratin 18 and negative against uimentin. Flow cytometry and cytogenetics revealed a predominant bypertriploid population. Few cases have been published with flow cytometry and cytogenetic findings. We report a new case.