Search results for "Bone disease"

Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1.

2009

Abstract Background/aim To present clinical and genetic characteristics of all Romanian patients with Gaucher disease type 1, in whom specific diagnosis has been confirmed by enzymatic and molecular methods and to analyze their outcome with and without enzymatic replacement therapy (ERT). Patients, methods There are fifty patients (F/M — 1.63/1) with Gaucher disease type 1. Clinical status, haemoglobin, thrombocytes, hepatic/splenic volume, bone mineral density and severity score were assessed at baseline and every six months thereafter. Thirty-nine patients (78%) received imiglucerase (44.4 ± 13.6 U/kg/2 weeks) for 3.1 +/− 1.4 years. Results Based on general prevalence data, our group repr…

The supracondylar approach to the jugular tubercle and hypoglossal canal.

1998

BACKGROUND Circumscribed lesions of the hypoglossal canal and of the jugular tubercle still remain a surgical challenge. So far, transpetrosal, transcondylar suboccipital, and extreme lateral approaches have been used to access this region. These surgical procedures bear a high risk for neurological deficits. Therefore, we introduce a new minimally invasive extradural approach to the hypoglossal canal that also allows access to the lateral aspects of the jugular tubercle. METHODS After a paramedian retromastoid skin incision, a basal suboccipital craniectomy lateral to the foramen magnum toward the jugular tubercle is performed. With this approach the occipital condyle and the lateral osseo…

Bone Mineral Density and Vitamin D Status in Female and Male Patients with Osteoarthritis of the Knee or Hip

2008

<i>Objective:</i> Osteoporosis (OP), osteoarthritis (OA) and vitamin D deficiency are age-related disorders. We investigated the association between bone mineral density (BMD), vitamin D and OA in patients undergoing total hip or knee replacements. <i>Method:</i> In total, 82 women and 35 men with mean ages of 70 and 68 years, respectively, were recruited for the study. The BMD of the lumbar spine and the proximal femur were measured by dual-energy X-ray absorptiometry. The vitamin D status was assessed by 25(OH)D levels, with a cut-off of ≤30 ng·ml<sup>–1</sup>. <i>Results:</i> In total, 84.7% of the patients had a vitamin D deficiency; 20% o…

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.

2003

In individuals with non-neuronopathic Gaucher disease, childhood manifestations are usually predictive of a more severe phenotype. Although children with Gaucher disease are at risk of irreversible disease complications, early intervention with an optimal dose of enzyme therapy can prevent the development of complications and ensure adequate, potentially normal, development through childhood and adolescence. Very few, if any, children diagnosed by signs and symptoms should go untreated. Evidence suggests that disease severity, disease progression and treatment response in different organs where glucocerebroside accumulates are often non-uniform in affected individuals. Therefore, serial mon…

Risk of low bone mineral density and low body mass index in patients with non-celiac wheat-sensitivity: a prospective observation study.

2014

Background Non-celiac gluten sensitivity (NCGS) or ‘wheat sensitivity’ (NCWS) is included in the spectrum of gluten-related disorders. No data are available on the prevalence of low bone mass density (BMD) in NCWS. Our study aims to evaluate the prevalence of low BMD in NCWS patients and search for correlations with other clinical characteristics. Methods This prospective observation study included 75 NCWS patients (63 women; median age 36 years) with irritable bowel syndrome (IBS)-like symptoms, 65 IBS and 50 celiac controls. Patients were recruited at two Internal Medicine Departments. Elimination diet and double-blind placebo controlled (DBPC) wheat challenge proved the NCWS diagnosis. A…

Depth of alveolar bone dehiscences in relation to gingival recessions.

1984

Dehiscence depths were measured in vivo during surgical treatment of 113 teeth with gingival recession in 27 subjects. The average dehiscence depth determined was 5.43 mm with an average recession depth of 2.67 mm. Statistical evidence of a correlation between recession depth and dehiscence depth (average distance between lowest point of recession and dehiscence = 2.8 mm) leaves 16 affected teeth (n = 113) with a distance of 4 mm or more (up to a maximum of 7.5 mm) between the gingival margin and the alveolar crest (facial) unaccounted for. The significance of these deviations from mean values in the etiology and prognosis of recessions is discussed.

Biomedical Applications of Polylactide (PLA) and Its Copolymers.

2018

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Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.

2014

Many neurodegenerative disorders present with sensory loss. In the group of hereditary sensory and autonomic neuropathies loss of nociception is one of the disease hallmarks. To determine underlying factors of sensory neurodegeneration we performed whole-exome sequencing in affected individuals with the disorder. In a family with sensory neuropathy with loss of pain perception and destruction of the pedal skeleton we report a missense mutation in a highly conserved amino acid residue of atlastin GTPase 3 (ATL3), an endoplasmic reticulum-shaping GTPase. The same mutation (p.Tyr192Cys) was identified in a second family with similar clinical outcome by screening a large cohort of 115 patients …

Do we need to change the guideline values for determining low bone mineral density in athletes? [Viewpoint]

2022

Distribution of Cartilage Proteoglycan (Aggrecan) Core Protein and Link Protein Gene Expression during Human Skeletal Development

1991

The distribution of cartilage proteoglycan core protein (aggrecan) and cartilage proteoglycan link protein was investigated by in situ hybridization during different stages of human skeletal development. Aggrecan and link protein expression were confined to chondrocytes of the developing skeleton and other cartilaginous structures. Distribution and intensity of the signal was identical with aggrecan as compared to link protein probes. Parallel to the calcification of cartilaginous matrix, chondrocytes of this area lost the expression of aggrecan and link protein specific mRNA and stayed negative throughout the following stages of skeletal development. Highest expression was found in the low…