80 research outputs found

    Hearing loss in Pompe disease revisited: results from a study of 24 children

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    Little information is available regarding the auditory function in Pompe patients. Hearing loss has been reported in classic infantile patients, but it is still unknown whether central nervous system involvement interferes with auditory function and whether enzyme replacement therapy can improve hearing. Audi

    Unfavourable birth outcomes of the Roma women in the Czech Republic and the potential explanations: a population-based study

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    BACKGROUND: Data on the health status of the Roma people in Central and Eastern Europe are sparse and the reasons for their poor health are not clear. The objective of this study was to quantify the differences in birth outcomes between Roma and non-Roma mothers in the Czech Republic and to investigate the potential causes of such differences. METHOD: A population-based study recruited 8938 non-Roma and 1388 Roma hospitalised singleton births that occurred in two Czech districts (Teplice and Prachatice) between 1995 and 2004. During their stay in hospital, mothers completed a questionnaire on their demographic and socioeconomic characteristics and maternal smoking and alcohol consumption. Data on maternal height and weight and on infants' birth weight and gestational age were taken from hospital records. RESULTS: Birth weight and gestational age of Roma infants was 373 (SE 15) g and 0.92 (0.05) weeks, respectively, lower than in non-Roma infants. Controlling for demographic, socioeconomic and behavioural factors reduced these differences to 133 (18) g and 0.57 (0.06) weeks, respectively (all p-values < 0.001). In terms of binary outcomes, the Roma vs. non-Roma odds ratios were 4.5 (95% CI 3.7–5.4) for low birth weight (< 2500 g), 2.8 (2.2–3.4) for preterm birth (< 37 weeks of gestation), and 2.9 (2.5–3.4) for intrauterine grown retardation (<10(th )percentile of birth weight for gestational age); controlling for all covariates reduced these odds ratios to 1.7 (1.3–2.2), 1.5 (1.1–2.0) and 1.3 (1.0–1.6), respectively. Maternal education made the largest contribution to the ethnic differences; the role of health behaviours was relatively modest. CONCLUSION: There are striking differences in birth outcomes between Roma and non-Roma mothers. The causes of these differences are complex but largely socioeconomic

    Guidelines for the use of diagnostic imaging in musculoskeletal (MSK) pain conditions affecting the lower back, knee and shoulder: a scoping review

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    Musculoskeletal (MSK) pain is one of the most common reasons for primary care consultation, particularly pain in the lower back (LBP), knee, and shoulder. The use of diagnostic imaging for musculoskeletal pain is increasing but it is unclear whether this increase is justified based on clinical practice guideline (CPG) recommendations. Aim To identify and map the content of CPGs that inform the use of diagnostic imaging in those with non-traumatic LBP, knee, and shoulder pain in primary and intermediate care in the UK. Design and Setting A scoping review of CPGs. Methods This scoping review was conducted and is reported in accordance with PRISMA guidance. A broad search strategy included electronic searches of MEDLINE, CINAHL, PsychINFO and SPORTDiscus from 2009 to the 17th April 2019. This was conducted alongside a search of guideline repositories and was combined with a snowball search of Google, relevant professional bodies and use of social media. Results 31 relevant CPGs were included. Routine use of diagnostic imaging for those with non-traumatic LBP, knee or shoulder pain is generally discouraged in primary care or intermediate care. Diagnostic imaging should be reserved for when specific or serious pathology is suspected or where the person is not responding to initial non-surgical management and the imaging result is expected to change clinical management decisions. Conclusion Diagnostic imaging should not be routinely requested in primary or intermediate care for non-traumatic LBP, knee, or shoulder pain. CPGs do not justify the increasing imaging rates in the UK for musculoskeletal pain

    Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy

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    The X-linked genetic Fabry disease causes multiorgan lesions due to intracellular storage of the substrate globotriaosylceramide. Neurological involvement ranges from painful, small fiber neuropathy to cerebrovascular disorders to multifocal aggressive forms. Disease identification through proper differential diagnosis and timely assessment of organ damage should guide a careful treatment planning. Mainstay treatment, include enzyme replacement and support therapy. Neurologists have a pivotal role in early instrumental and clinical detection of organ damage. A panel of experts has developed a set of consensus recommendations to guide the approach of neurologists to Fabry disease

    Accessible health care for Roma: a gypsy’s tale a qualitative in-depth study of access to health care for Roma in Ghent

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    Background: In general, vulnerable populations experience more problems in accessing health care. This also applies to the Roma-population. In the City of Ghent, Belgium, a relativly large group of Roma resides more or less permanently. The aim of this study is to explore the barriers this population encounters in their search for care. Methods: In this qualitative study using in-depth interviews the barriers to health care for the Roma in Ghent are explored. We interviewed 12 Roma and 13 professionals (volunteers, health care providers,.) who had regular contact with the Roma-population in Ghent. For both groups purposive sampling was used to achieve maximal variation regarding gender, age, nationality and legal status. Results: The Roma-population in Ghent encounters various barriers in their search for care. Financial constraints, not being able to reach health care and having problems to get through the complexity of the system are some of the most critical problems. Another important finding is the crucial role of trust between patient and care provider in the care-giving process. Conclusion: Roma share several barriers with other minority groups, such as: financial constraints, mobility issues and not knowing the language. However, more distinctive for this group is the lack of trust in care providers and health care in general. As a result, restraint and lack of communication form serious barriers for both patient and provider in their interaction. In order to ensure equitable access for Roma, more emphasis should be on establishing a relationship of mutual respect and understanding

    A pilot randomized controlled trial comparing bismuth iodine paraffin paste external ear pack and no ear pack after middle ear surgery

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    © 2013, The Author(s). To pilot a substantive randomized control trial comparing post-operative external ear canal pack with no ear pack after middle ear surgery, 32 adults undergoing primary posterior bony canal wall preserving middle ear surgery were randomized to have either a bismuth iodoform paraffin paste pack or no ear pack post-operatively. Outcome measures included clinician- and patient-recorded visual analogue scale scores for ear signs and symptoms at 3weeks and 3months and audiometric findings at 3months post-operatively. There was no statistically significant inter-group difference in 3-week clinician and patient cumulative scores for ear signs and symptoms. There was also no significant difference in graft take rate, appearance of ear canals and audiometric results in either group at 3months. No difference in ear symptoms, clinician findings or hearing was demonstrated between patients with a post-operative pack compared to those without a pack following middle ear surgery in this pilot study

    Vestibular and auditory deficits in fabry disease and their response to enzyme replacement therapy

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    Progressive hearing (pHL) and vestibular (pVL) loss are frequent deficits in Fabry disease (FD). Recently, enzyme replacement therapy (ERT) with human alpha-galactosidase A has become available. Here, we investigate the association between pHL and pVL in FD and their ERT responses. Pure tone audiometry (PTA) and head impulse testing (HIT) were administered at baseline in 47 patients (25 male, 18-60 y; 22 female, 17-74 y), of whom 24 also received caloric irrigation (CI). Of the 47 patients, 38 (24 male) were tested both before and during ERT (follow- up or = 18 months of ERT, pVL was significantly smaller than at baseline (ANOVA for HIT: p 0.05). We conclude that pHL and pVL prevalences are similar in FD. To detect pVL, HIT is more sensitive than CI. We speculate that pHL and pVL emerge from lesions within the vestibulocochlear labyrinth, because no specific patterns of vestibulo-cochlear deficits were observed, as expected if lesions were more proximal along the inferior or superior branch of the vestibulo-cochlear nerve or labyrinthine artery. Finally, ERT stabilizes auditory and even improves vestibular function
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