Search results for "GENETICS"

Enzyme replacement therapy in Fabry disease: Comparison of agalsidase alfa and agalsidase beta

2008

Preface: Approaches of Chinese Medicine to Oncology

2011

Antiketogene Wirkung von Xylit bei alloxandiabetischen Ratten

1963

Bei alloxandiabetischen Ratten mit Ketonurie zeigt Xylit je nach Versuchsbedingungen in 50–80% der Falle eine statistisch gesicherte antiketogene Wirkung.

Regulation of Apoptosis in Endocrine Autoimmunity

2002

Dysregulation of apoptosis is associated with the pathogenesis of organ-specific autoimmune diseases, through altered target organ susceptibility. Apoptosis signaling pathways can be initiated through activation of death receptors such as Fas. A comparative analysis of the expression of Fas and FasL, the antiapoptotic molecule Bcl-2, and apoptosis in both thyrocytes and thyroid-infiltrating lymphocytes (TILs) from patients with either Graves' disease (GD) or Hashimoto's thyroiditis (HT) was performed. GD thyrocytes expressed less Fas than HT thyrocytes, whereas GD TILs had higher levels of Fas and FasL than HT TILs. GD thyrocytes expressed higher levels of Bcl-2 compared with HT thyrocytes.…

Congenital myopathy and epidermolysis bullosa due to PLEC variant

2021

Abstract We report on an adult Turkish patient with mild myopathy with a fiber-type disproportion and mitochondrial disorganization caused by genetic variants in the plectin gene (PLEC). Molecular genetic panel testing revealed two homozygous variants in PLEC (NM_000445.4): c.8306C>G (p.Pro2769Arg) and c.7506 + 5C>G (p. ?) that were classified as variants of unknown significance (class 3) following ACMG guidelines for variant classification in genetic diagnostics. A thorough reassessment of the patient revealed mild skin blistering (epidermolysis bullosa simplex, EBS). This illustrates the importance of deep phenotyping of neuromuscular patients.

FTO and INSIG2 Genotyping Combined with Metabolic and Anthropometric Phenotyping of Morbidly Obese Patients

2013

Obesity is a major health problem worldwide. Associations of obesity with common variants of the fat mass- and obesity-associated gene <i>(FTO) </i>and insulin-induced gene 2 <i>(INSIG2)</i> have been reported in various studies. We aimed to further investigate the association of 2 single nucleotide polymorphisms (SNPs), rs9939609 in <i>FTO</i> and rs7566605 in <i>INSIG2</i>, with body mass index (BMI) and other anthropometric and metabolic parameters in subjects with morbid obesity (BMI ≥40). SNPs rs9939609 and rs7566605 were genotyped in 124 unrelated morbidly obese patients (mean BMI = 50, range 40.1-77.1) from Mainz, Germany, and in 253 no…

AB0996 Rheumathologic Diseases in Adolescence: Psychological Profile of a Difficult Age

2015

Background Chronic disease significantly interfere with the quality of life at every age, expecially in a period of life characterized by the need to assume a role in the society and the research of a specific identity. The personal image is often destroyed by the disease, the long term sequelae of pharmacological treatment. Adolescents are frequently obligated to quit many possibilities of experience with peers. Objectives We realized a plurispecialistic approach to adolescents with rheumatologic diseases, with the figures of neuropsychiatric, psychologists, rheumatologists, endocrinologists, to give an answer to the complex requests of these patients. Methods We evaluated 20 patients with…

SAT0136 Focus on Implementation of Cardiovascular Risk Factor Recording for Patients with Rheumatoid Arthritis in A Rheumatology Outpatient Clinic

2014

Objectives There is a need for implementing the knowledge of cardiovascular (CV) risk in patients with rheumatoid arthritis (RA) into clinical practice. Our aim was to evaluate CV risk factor (CVRF) recording in a rheumatology outpatient clinic (ROC), where the standard was annual CVRF recording. A second aim was to compare CVRF recording between a regular ROC (RegROC) and an arthritis clinic (AC), which consisted of a structured, team-based model. Methods In 2012, 1142 RA patients visited the ROC of the Hospital of Southern Norway. Of these 612 attended RegROC and 530 attended AC. We conducted a search in the patients9 hospital records to identify recording of CVRFs. Results CVRFs were rec…

AB0715 THE PREVALENCE OF FIBROMIYALGIA IN PATIENTS WITH FAMILIAL MEDITERRANEAN FEVER AND THE RELATIONSHIP BETWEEN FATIGUE AND QUALITY OF LIFE

2021

Background:Familial Mediterranean Fever (FMF) can cause various muscle diseases. Because it is a chronic auto inflammatory disease, painful trigger points may be encountered in the examination due to a decrease in the pain threshold (1-3).Objectives:The aim of this study was to determine the prevalence of Fibromiyalgia in patients with FMF, at the same time to identify the relationship between fatigue and quality of life.Methods:Sixtyseven patients (38 female, 29 male) with FMF were enrolled in the study. They were diagnosed with FMF based on the Livneh diagnostic criteria (4). Fibromyalgia involvement of the patients was evaluated according to the Fibromyalgia Impact Questionnaire (FIQ). P…

THU0573 Association Between Sosiodemogapic Data and Perceived Health Status on Sexual Activity in Patients with Axial Spondyloarthritis

2013

Background Axial spondyloarthritis (ax-SpA) is a chronic inflammatory disorder causing signs and symptoms from the axial skeleton, but may also affect peripheral joints, tendons and internal organs. Ax-SpA may give rise to significant loss of function and impaired quality of life. Despite the known importance of sexuality as part of quality of life (Healey 2009), only a few studies have explored sexuality in ax-SpA patients. Objectives To investigate the association between sosiodemograpic data and perceived health status on sexual activity in patients with ax-SpA. Methods Patients with ax-SpA (fulfilling the axial SpA criteria) were consecutively recruited from one clinic in southern and o…