Search results for "ABO"
showing 10 items of 13628 documents
MUSCLE BIOENERGETIC ABNORMALITY IN MYOTONIC-DYSTROPHY - A SECONDARY MITOCHONDRIAL DISORDER
1993
International audience; Abstract: The thenar muscles and gastrocnemius of a patient with myotonic dystrophy were investigated, at rest, by phosphorus nuclear magnetic resonance spectroscopy. A decrease in phosphocreatine level and an increase in inorganic phosphate and phosphodiester levels were found in the gastrocnemius, which was clinically spared, whilst the thenar muscles, which were wasted and affected by myotonia, exhibited only an increased inorganic phosphate level and an elevated pH. These findings were comparable with those found in other muscular disorders, such as Duchenne's and Becker's dystrophies, as well as in limb girdle dystrophy. They suggested that the abnormalities obs…
A global DNA repair mechanism involving the Cockayne syndrome B (CSB) gene product can prevent the in vivo accumulation of endogenous oxidative DNA b…
2002
The Cockayne syndrome B (CSB) gene product is involved in the repair of various types of base modifications in actively transcribed DNA sequences. To investigate its significance for the repair of endogenous oxidative DNA damage, homozygous csb(-/-)/ogg1(-/-) double knockout mice were generated. These combine the deficiency of CSB with that of OGG1, a gene coding for the mammalian repair glycosylase that initiates the base excision repair of 7,8-dihydro-8-oxoguanine (8-oxoG). Compared to ogg1(-/-) mice, csb(-/-)/ogg1(-/-) mice were found to accumulate with age severalfold higher levels of oxidited purine modifications in hepatocytes, splenocytes and kidney cells. In contrast, the basal (ste…
Granuloma anulare disseminatum als seltene Nebenwirkung von Allopurinol
1995
During long-term therapy of hyperuricaemia with allopurinol (300 mg/d) two patients developed generalized granuloma annulare. The diagnoses were confirmed by histology; concomitant diseases, especially diabetes mellitus, were not detectable. Following discontinuation of allopurinol therapy, cutaneous granulomas healed without relapse. Hyperuricaemia could be controlled by low-purine diet and medication avoiding allopurinol. The clinical history of our two patients suggested a causal connection between allopurinol therapy and generalized granuloma annulare. For this reason we rate the development of this disease in both cases as a rare but significant side effect of allopurinol. This should …
Development of the first marmoset-specific DNA microarray (EUMAMA): a new genetic tool for large-scale expression profiling in a non-human primate
2007
Abstract Background The common marmoset monkey (Callithrix jacchus), a small non-endangered New World primate native to eastern Brazil, is becoming increasingly used as a non-human primate model in biomedical research, drug development and safety assessment. In contrast to the growing interest for the marmoset as an animal model, the molecular tools for genetic analysis are extremely limited. Results Here we report the development of the first marmoset-specific oligonucleotide microarray (EUMAMA) containing probe sets targeting 1541 different marmoset transcripts expressed in hippocampus. These 1541 transcripts represent a wide variety of different functional gene classes. Hybridisation of …
Impaired geometric properties of tibia in older women with hip fracture history.
2007
This study evaluated side-to-side differences in tibial mineral mass and geometry in women with previous hip fracture sustained on average 3.5 years earlier. Both tibial mineral mass and geometry were found to be reduced in the fractured leg. INTRODUCTION: The purpose of this study was to evaluate side-to-side differences in tibial mineral mass and geometry after hip fracture and to assess the determinants of such differences. METHODS: Thirty-eight 60- to 85-year-old women with a previous hip fracture and 22 same-aged control women without fractures participated in the study. Bone characteristics of the distal tibia and tibial shaft of both legs were assessed using pQCT in order to compare …
Does hysterectomy with ovarian conservation affect bone metabolism and density?
2002
We evaluated whether hysterectomy with ovarian conservation (HYX) has an effect on bone metabolism and density in 176 healthy Caucasian postmenopausal women aged 48-59 years. Bone properties of the hip, spine, radius, tibia, and calcaneus were measured using different bone assessment modalities. In addition, bone turnover was assessed using serum bone-specific alkaline phosphatase (BAP), osteocalcin (OC), and tartrate-resistant acid phosphatase (TRAP) 5b as biomarkers. Our results showed that women having HYX had a significantly lower level of OC ( P = 0.017) and a marginally lower level of TRAP 5b ( P = 0.051) and higher bone mineral density (BMD) of the femoral neck ( P = 0.037) and lumba…
Long Term Leisure Time Physical Activity Has a Positive Effect on Bone Mass Gain in Girls
2009
The purpose of this 7-year prospective longitudinal study was to examine whether the level and consistency of leisure-time physical activity (LTPA) during adolescence affected the bone mineral content (BMC) and bone mineral density (BMD) attained at early adulthood. The study subjects were 202 Finnish girls who were 10 to 13 years of age at baseline. Bone area (BA), BMC, and BMD of the total body (TB), total femur (TF), and lumbar spine (L2–L4) were assessed by dual-energy X-ray absorptiometry (DXA). Scores of LTPA were obtained by questionnaire. Girls were divided into four groups: consistently low physical activity (GLL), consistently high (GHH), and changed from low to high (GLH) and fro…
Mucopolysaccharidoses and other lysosomal storage diseases.
2013
Mucopolysaccharidosis and other lysosomal storage diseases are rare, chronic, and progressive inherited diseases caused by a deficit of lysosomal enzymes. Patients are affected by a wide variety of symptoms. For some lysosomal storage diseases, effective treatments to arrest disease progression, or slow the pathologic process, and increase patient life expectancy are available or being developed. Timely diagnosis is crucial. Rheumatologists, orthopedics, and neurologists are commonly consulted due to unspecific musculoskeletal signs and symptoms. Pain, stiffness, contractures of joints in absence of clinical signs of inflammation, bone pain or abnormalities, osteopenia, osteonecrosis, secon…
Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis
2009
Abstract Background Undiagnosed patients with the attenuated form of mucopolysaccharidosis (MPS) type I often have joint symptoms in childhood that prompt referral to a rheumatologist. A survey conducted by Genzyme Corporation of 60 European and Canadian rheumatologists and pediatric rheumatologists demonstrated that Bone and joint manifestations are prominent among most patients with MPS disorders. These life-threatening lysosomal storage diseases are caused by deficient activity of specific enzymes involved in the degradation of glycosaminoglycans. Patients with attenuated MPS disease often experience diagnostic delays. Enzyme replacement therapy is now commercially available for MPS I (l…
“Constancia”. Dalla Sicilia a New York un esempio metodologico per la valorizzazione delle collezioni ecclesiastiche
2022
Il contributo si offre come proposta metodologica ai fini della valorizzazione delle collezioni diocesane partendo dall’esperienza della mostra “Constancia. Donne al potere nell’impero mediterraneo di Federico II”, curata dagli autori, insieme alla prof. Di Natale, all’Istituto Italiano di Cultura di New York nei mesi di marzo e aprile 2022. Il testo illustra il percorso che ha condotto all’elaborazione del progetto curatoriale, a partire dall’ottavo centenario della morte di Costanza d’Aragona cui sono state correlate altre tre Costanza rispettivamente madre, figlia e nipote di Federico II di Svevia, offrendo così un originale taglio al femminile e un resoconto delle quattro donne al poter…