Search results for "bone"
showing 10 items of 2629 documents
Multilayer amniotic membrane transplantation in severe ocular graft versus host disease
2001
To clarify the usefulness of multilayer amniotic membrane transplantation in an unusual case of calcareous corneal degeneration in a patient with graft-versus-host disease.A 20-year-old Caucasian woman had bilateral calcareous corneal degeneration of one year of evolution, secondary to graft-versus-host disease. Treatment for both eyes with topical steroids and antibiotic ointment was not successful. Right eye had a spontaneous corneal perforation, and a three-layer circle amniotic membrane graft was applied to the whole cornea.During a follow-up period of 20 months we observed stability of the corneal epithelium and stroma. The amniotic membrane-covered area showed rapid epithelization, re…
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary toVPS13Bmutations
2013
Over one hundred VPS13B mutations are reported in Cohen syndrome (CS). Most cases exhibit a homogeneous phenotype that includes intellectual deficiency (ID), microcephaly, facial dysmorphism, slender extremities, truncal obesity, progressive chorioretinal dystrophy, and neutropenia. We report on a patient carrying two VPS13B splicing mutations with an atypical phenotype that included microcephaly, retinopathy, and congenital neutropenia, but neither obesity nor ID. RNA analysis of the IVS34+2T_+3AinsT mutation did not reveal any abnormal splice fragments but mRNA quantification showed a significant decrease in VPS13B expression. RNA sequencing analysis up- and downstream from the IVS57+2T>C…
Age-dependence of bone material quality shown by the measurement of frequency of resonance in the ulna
1994
In women before and after the age of peak bone mass, identical values of bone mineral density (BMD) can be obtained. However, there is a much higher incidence of osteoporotic fractures in older women. We investigated whether a deterioration of bone material quality with increasing age might contribute to this phenomenon. Material properties of bone tissue can be characterized by the modulus of elasticity, which is correlated to the square of sound transmission velocity. In this study, sound transmission velocity was determined in cortical bone by measuring the frequency of resonance in the ulna in the direction of the bone's longitudinal axis and correcting the values by multiplying by ulna…
Prospective sonographic detection of spina bifida at 11–14 weeks and systematic literature review
2015
Objective: To conduct a literature review to assess the effectiveness of first trimester ultrasonographic markers of spina bifida (SB) integrating data with our prospective experience. Methods: The analysis of the SB cases that we prospectively detected in the first trimester, between January 2012 and February 2014, and a systematic review of all the papers evaluating the effectiveness of SB ultrasonographic markers at 11–14 weeks, namely brain stem diameter (BS), fourth ventricle/intracranial translucency (IT), cisterna magna (CM), brain stem/occipital bone distance (BSOB), the ratio between BS and BSOB. Some studies assess only the effectiveness of IT, others include more parameters, and …
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…
Trait-specific tracking and determinants of body composition: a 7-year follow-up study of pubertal growth in girls
2008
Abstract Background Understanding how bone (BM), lean (LM) and fat mass (FM) develop through childhood, puberty and adolescence is vital since it holds key information regarding current and future health. Our study aimed to determine how BM, LM and FM track from prepuberty to early adulthood in girls and what factors are associated with intra- and inter-individual variation in these three tissues. Methods The study was a 7-year longitudinal cohort study. BM, LM and FM measured using dual-energy X-ray absorptiometry, self-reported dietary information, leisure time physical activity (LTPA) and other factors were assessed one to eight times in 396 girls aged 10 to 13 years (baseline), and in 2…
Peri‐implant marginal bone loss reduction with platform‐switching components: 5‐Year post‐loading results of an equivalence randomized clinical trial
2019
Abstract Aim To compare the clinical performance and marginal bone levels of implants restored with platform‐switching (PS) or platform‐matching (PM) abutments. Materials and Methods Adult patients missing two or more adjacent teeth in the posterior mandible received 2–4 CAMLOG SCREW‐LINE implants and were randomly allocated to the PM or PS group, receiving the corresponding prosthetic components from surgery onwards. Implants were conventionally loaded with single cemented crowns. Patients were followed annually for 5 years. Outcome measures were marginal bone level changes, implant survival, performance of the prosthetic components and clinical parameters plaque index, sulcus bleeding ind…
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…
Assessment of maximal handgrip strength: How many attempts are needed?
2017
BACKGROUND: Handgrip strength (HGS) is used to identify individuals with low muscle strength (dynapenia). The influence of the number of attempts on maximal HGS is not yet known and may differ depending on age and health status. This study aimed to assess how many attempts of HGS are required to obtain maximal HGS.METHODS: Three cohorts (939 individuals) differing in age and health status were included. HGS was assessed three times and explored as continuous and dichotomous variable. Paired t-test, intraclass correlation coefficients (ICC) and Bland-Altman analysis were used to test reproducibility of HGS. The number of individuals with misclassified dynapenia at attempts 1 and 2 with respe…
Aneurysmal bone cyst of the spine in adult patients: A systematic review and comparison of primary vs secondary lesions.
2021
Background: Spine aneurysmal bone cysts (ABCs) rarely occur in adults. Primary and secondary lesions may show some differences and require appropriate treatments. Objective: To systematically review the literature on adult spine ABCs. Methods: PubMed, EMBASE, Scopus, and Web-of-Science were searched. Clinical-radiological features, treatments, and outcomes were analyzed and compared between primary vs secondary adult spine ABCs. Results: We included 80 studies comprising 220 patients. Primary spine ABCs were more frequent (76.4%). Main symptoms were lower-back-pain (42.8%) and motor deficits (31.2%). Tumors were mostly thoracic (31.4%) or cervical (26.8%), showing lytic (70.4%) and/or cysti…