Behavioural evidence for enhanced olfactory and trigeminal perception in congenital hearing loss.

Sensory deprivation, especially hearing loss (HL), offers a valuable model for studying neuroplasticity in the human brain and adaptive behaviours that support the daily lives of those with limited or absent sensory input. The study of olfactory function is particularly important as it is an understudied aspect of sensory deprivation. This study aimed to compare the effects of congenital HL on olfactory capacity by using psychophysical tasks.

Effects of asfotase alfa in adults with pediatric-onset hypophosphatasia over 24 months of treatment.

Background: Hypophosphatasia (HPP) is a rare, heritable metabolic disorder caused by deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP). Asfotase alfa (AA) is a human recombinant TNSALP that promotes bone mineralization and is approved to treat eligible patients with HPP.

Methods: This prospective single-center observational study evaluated AA in adults with pediatric-onset HPP over 2 years of treatment (ClinicalTrials.

Metal artifact reduction in ultra-high-resolution cone-beam CT imaging with a twin robotic X-ray system.

Cone-beam computed tomography (CBCT) has been shown to be a powerful tool for 3D imaging of the appendicular skeleton, allowing for detailed visualization of bone microarchitecture. This study was designed to compare artifacts in the presence of osteosynthetic implants between CBCT and multidetector computed tomography (MDCT) in cadaveric wrist scans. A total of 32 scan protocols with varying tube potential and current were employed: both conventional CBCT and MDCT studies were included with tube voltage ranging from 60 to 140 kVp as well as additional MDCT protocols with dedicated spectral shaping via tin prefiltration.

Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.

Context: Many different inherited and acquired conditions can result in premature bone fragility/low bone mass disorders (LBMDs).

Objective: We aimed to elucidate the impact of genetic testing on differential diagnosis of adult LBMDs and at defining clinical criteria for predicting monogenic forms.

Methods: Four clinical centers broadly recruited a cohort of 394 unrelated adult women before menopause and men younger than 55 years with a bone mineral density (BMD) Z-score < -2.

[Clavicle stress fracture following reverse shoulder arthroplasty].

We present a rare case of clavicle fracture following reverse shoulder arthroplasty (RSA). This complication may be caused by the higher tension of the deltoid muscle after RSA, similarly to stress fractures of the acromion. Associated bone disease, i.

Efficacy of Zoledronic Acid in the Treatment of Nonmalignant Painful Bone Marrow Lesions: A Triple-Blind, Randomized, Placebo-Controlled Phase III Clinical Trial (ZoMARS).

Bone marrow lesions (BML) represent areas of deteriorated bone structure and metabolism characterized by pronounced water-equivalent signaling within the trabecular bone on magnetic resonance imaging (MRI). BML are associated with repair mechanisms subsequent to various clinical conditions associated with inflammatory and non-inflammatory injury to the bone. There is no approved treatment for this condition.

Feasibility of simple exercise interventions for men with osteoporosis - A prospective randomized controlled pilot study.

Background: Aging is associated with progressive loss of musculoskeletal performance. Exercise interventions can improve physical function in the elderly but there is a paucity of comparative assessments in order to understand what specific goals can be achieved particularly with less demanding exercise interventions readily accessible for untrained men.

Methods: Prospective randomized, controlled, single center exploratory trial to compare four distinct exercise interventions, i.

Bone turnover and mineral metabolism in adult patients with hypophosphatasia treated with asfotase alfa.

Unlabelled: There is limited understanding of how asfotase alfa affects mineral metabolism and bone turnover in adults with pediatric-onset hypophosphatasia. This study showed that adults with hypophosphatasia treated with asfotase alfa experienced significant changes in biochemical markers of bone and mineral metabolism, possibly reflecting enhanced bone remodeling of previously osteomalacic bone.

Introduction: Hypophosphatasia (HPP), due to a tissue nonspecific alkaline phosphatase (TNSALP) deficiency, can cause impaired bone mineralization and turnover.

Sarcopenia and Malnutrition Screening in Female Osteoporosis Patients-A Cross-Sectional Study.

Sarcopenia and malnutrition are important determinants of increased fracture risk in osteoporosis. SARC-F and MNA-SF are well-established questionnaires for identifying patients at risk for these conditions. We sought to evaluate the feasibility and potential added benefit of such assessments as well as the actual prevalence of these conditions in osteoporosis patients.

Differential impact of osteoporosis, sarcopenia and obesity on physical performance in aging men.

Purpose: Aging and concurrent constitutional changes as sarcopenia, osteoporosis and obesity are associated with progressive functional decline. Coincidence and mutual interference of this risk factors require further evaluation.

Methods: Cross-sectional evaluation of musculoskeletal health in a community-dwelling cohort of men aged 65-90 years.

Impact of whole-body vibration exercise on physical performance and bone turnover in patients with monoclonal gammopathy of undetermined significance.

Objective: Monoclonal Gammopathy of Undetermined Significance (MGUS) is a risk factor for reduced physical performance, osteoporosis, and fractures due to compromised musculoskeletal metabolism. In this condition it is unknown whether whole-body vibration (WBV) exercise favorably alters physical performance and bone metabolism.

Methods: To evaluate the effect of three-months WBV exercise (30 min; 2x/week) including an optional three-month extension on physical performance, bone metabolism and bone mineral density.

Physical Function and Health-Related Quality of Life in Adults Treated With Asfotase Alfa for Pediatric-Onset Hypophosphatasia.

Hypophosphatasia (HPP) is a rare, inherited, metabolic disease characterized by tissue-nonspecific alkaline phosphatase deficiency resulting in musculoskeletal and systemic clinical manifestations. This observational study evaluated the effectiveness of enzyme replacement therapy with asfotase alfa on physical function and health-related quality of life (HRQoL) among adults with pediatric-onset HPP who received asfotase alfa for 12 months at a single center (ClinicalTrial.gov no.

Bone mineral density and fracture risk in adult patients with hypophosphatasia.

Unlabelled: In adult hypophosphatasia (HPP) patients, elevated lumbar spine dual X-ray absorptiometry (DXA) values are associated with markers of disease severity and disease-specific fracture risk while femoral bone mineral density (BMD), being largely unaffected by the disease severity, may still be useful to monitor other causes of increased fracture risk due to low BMD.

Introduction: Hypophosphatasia (HPP) is a rare inherited metabolic disorder due to deficient activity of the tissue-nonspecific alkaline phosphatase (TNAP). Clinical manifestation in adult HPP patients is manifold including an increased risk for fractures, but data regarding clinical significance of DXA measurement and associations with fracture risk and disease severity is scarce.

The Impact of Early Deafness on Brain Plasticity: A Systematic Review of the White and Gray Matter Changes.

Auditory deprivation alters cortical and subcortical brain regions, primarily linked to auditory and language processing, resulting in behavioral consequences. Neuroimaging studies have reported various degrees of structural changes, yet multiple variables in deafness profiles need to be considered for proper interpretation of results. To date, many inconsistencies are reported in the gray and white matter alterations following early profound deafness.

Subtrochanteric and diaphyseal femoral fractures in hypophosphatasia-not atypical at all.

Unlabelled: Risk for subtrochanteric and diaphyseal femoral fractures is considered increased in patients with hypophosphatasia (HPP). Evaluating a large cohort of HPP patients, we could for the first time quantify the prevalcence and identify both morphometric features as well as predisposing factors for this complication of severe HPP.

Introduction: Subtrochanteric and diaphyseal femoral fractures have been associated with both, long-term antiresorptive treatment and metabolic bone disorders, specifically Hypophosphatasia (HPP).

Cellular pharmacodynamic effects of Pycnogenol® in patients with severe osteoarthritis: a randomized controlled pilot study.

Background: The standardized maritime pine bark extract (Pycnogenol®) has previously shown symptom alleviating effects in patients suffering from moderate forms of knee osteoarthritis (OA). The cellular mechanisms for this positive impact are so far unknown. The purpose of the present randomized pilot controlled study was to span the knowledge gap between the reported clinical effects of Pycnogenol® and its in vivo mechanism of action in OA patients.

Efficacy and safety of whole body vibration in maintenance hemodialysis patients - A pilot study.

Objectives: The aim of this study was to assess safety and effectiveness of Whole Body Vibration exercise (WBV) to improve physical performance and parameters of inflammation in patients on maintenance hemodialysis (MHD).

Methods: Prospective, open-label trial in n=14 patients on maintenance hemodialysis. Participants performed WBV twice weekly for 12 weeks before (n=8) or after (n=6) hemodialysis sessions.

Distribution of Constituents and Metabolites of Maritime Pine Bark Extract (Pycnogenol) into Serum, Blood Cells, and Synovial Fluid of Patients with Severe Osteoarthritis: A Randomized Controlled Trial.

The present randomized controlled study aimed to investigate the in vivo distribution of constituents or metabolites of the standardized maritime pine bark extract Pycnogenol. Thirty-three patients with severe osteoarthritis scheduled for a knee arthroplasty were randomized to receive either 200 mg per day Pycnogenol (P+) or no treatment (Co) over three weeks before surgery. Serum, blood cells, and synovial fluid samples were analyzed using liquid chromatography coupled to tandem mass spectrometry with electrospray ionization (LC-ESI/MS/MS).

[Diagnostics in osteology].

Clinical diagnostics in metabolic bone diseases cover a broad spectrum of conventional and state of the art methods ranging from the medical history and clinical examination to molecular imaging. Patient treatment is carried out in an interdisciplinary team due to the multiple interactions of bone with other organ systems. Diagnosis of osteoporosis is supported by high level national guidelines.

[Regulation of bone metabolism in osteoporosis : novel drugs for osteoporosis in development].

Bone is continuously regenerated and remodeled as an adaptation to mechanical load. Bone mass and fracture resistance are maintained by a balanced equilibrium between bone formation and bone resorption. Regeneration and response to mechanical load are, however, impaired in osteoporosis and during aging.

Respiration of amniotic fluid in near-term foetal rabbit.

Objective: To examine the existence of amniotic fluid inhalation in foetal rabbit near term.

Study Design: Rabbit red cells labelled with 51 radio-chromium (Cr51-S1: Injectable solution sodium chromate, volumic activity: 74 MBq/ml; Cis-BioInternational, France) were injected into the amniotic sac of 24 New Zealand White foetal rabbits (mean gestation: 31 days) at day 25 per-laparotomy. At day 26, just prior to caesarean section, human serum albumin labelled with 125 radio-active iode (125I-HSA) (SERALB-125: human serum albumin labelled with radioactive Iode 125, volumic activity: 185 kBq/ml, Cis-BioInternational, France) was injected into each amniotic sac.

The preferential location of the human Y chromosome in somatic metaphase. I. Influence of Y polymorphism.

The location of the Y chromosome in metaphase figures was studied, with respect to its polymorphism, on 700 micrographs from blood lymphocyte cultures from 70 normal male members of seven Canadian family lines whose polymorphic Y chromosomes were inherited in a patrilinear fashion from seventeenth-century French ancestors. Three of these family lines were carriers of a long Y chromosome, two a small one, one had an average length Y and a seventh one had a satellited Y marker. The Y chromosome was peripheral in 75 to 90 per cent of the metaphase plates from each individual investigated.

The influence of the length of the human Y chromosome on spontaneous abortions. A prospective study in family lines with inherited polymorphic Y chromosomes.

Following reports indicating a close association between the presence of a long Y chromosome in males and the risk of spontaneous abortion in their female partners, the incidence of spontaneous fetal loss was investigated in four family lines whose patrilineary ancestors emigrated from France to Canada during the second half of the seventeenth century. In two of the lines the males were carriers of a Yq+, in the other two the males had a Yq- or a normal Y chromosome. Results showed that in one of family lines with a Yq+, 17/26 (65.