LIVIVO - The Search Portal for Life Sciences

zur deutschen Oberfläche wechseln
Advanced search

Search results

Result 1 - 10 of total 763

Search options

  1. Article ; Online: Patient-perceived dysphagia and voice change post thyroid surgery: a telephone questionnaire.

    Mowat, Andrew / Sandhar, Pardip / Chan, Jacqueline / De, Mriganka

    The Journal of laryngology and otology

    2023  , Page(s) 1–5

    Abstract: Objective: This study analyses the incidence of subjectively experienced dysphagia and voice change in post-thyroidectomy and parathyroidectomy patients without recurrent laryngeal nerve palsy.: Methods: A total of 400 patients were invited to ... ...

    Abstract Objective: This study analyses the incidence of subjectively experienced dysphagia and voice change in post-thyroidectomy and parathyroidectomy patients without recurrent laryngeal nerve palsy.
    Methods: A total of 400 patients were invited to participate in a telephone questionnaire based on the Dysphagia Handicap Index and Voice Handicap Index. At 6-24 months following surgery, participants were divided into: post-thyroid surgery (total, hemi-, parathyroidectomy) groups and controls (other ENT procedures). A total of 254 responses were received (127 following thyroid surgery, 127 controls).
    Results: Twenty-two per cent of post-thyroidectomy patients had a Voice Handicap Index score of more than 3, compared to 15 per cent of parathyroid patients and 4 per cent of controls. The mean Dysphagia Handicap Index score for patients post thyroidectomy and hemi-thyroidectomy was 2.0. Parathyroidectomy patients had a mean Dysphagia Handicap Index score of 1.3, higher than controls at 1.0.
    Conclusion: Dysphagia and voice alteration are common following thyroid surgery, even in the absence of recurrent laryngeal nerve injury. Both deficits occur more frequently following thyroid surgery than parathyroid surgery.
    Language English
    Publishing date 2023-12-07
    Publishing country England
    Document type Journal Article
    ZDB-ID 218299-3
    ISSN 1748-5460 ; 0022-2151
    ISSN (online) 1748-5460
    ISSN 0022-2151
    DOI 10.1017/S0022215123002219
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Ul II Zs.64: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  2. Article ; Online: Rigid bronchoscopy: a consultant survey.

    Mowat, A / Balbirsingh, V / Sandhar, P / Parekh, M / Amlani, A / Young, B / Giblett, N

    Annals of the Royal College of Surgeons of England

    2023  Volume 106, Issue 4, Page(s) 377–384

    Abstract: Introduction: Inhalation of foreign bodies represents a potentially fatal emergency in both adults and children. Chest x-ray, in isolation, is neither sensitive nor specific. Rigid bronchoscopy represents the gold standard to diagnose and retrieve ... ...

    Abstract Introduction: Inhalation of foreign bodies represents a potentially fatal emergency in both adults and children. Chest x-ray, in isolation, is neither sensitive nor specific. Rigid bronchoscopy represents the gold standard to diagnose and retrieve paediatric foreign bodies. Cases are encountered infrequently, creating anxieties about their management. Little is known about the confidence in, and maintenance of, rigid bronchoscopy skills by ear, nose and throat teams.
    Methods: A 15-question survey was completed by 50 practising otolaryngology consultants in England.
    Results: Results show that almost 40% of otolaryngology consultants covering rigid bronchoscopy have not performed bronchoscopy in more than 5 years. Consultants raised concerns about the anaesthetic support and the speed of equipment assembly. Questions on clinical practice showed disparities in practice in the same scenario.
    Conclusions: The authors advocate addressing many of the issues raised by the study with a greater availability of simulation courses and regular scheduled intradepartmental teaching days for all professionals involved. National guidelines on criteria for transfer to tertiary centres would improve the consistency of practice.
    MeSH term(s) Child ; Humans ; Infant ; Bronchoscopy/methods ; Consultants ; Surveys and Questionnaires ; Foreign Bodies/diagnosis ; Otolaryngology ; Retrospective Studies
    Language English
    Publishing date 2023-10-16
    Publishing country England
    Document type Journal Article
    ZDB-ID 80044-2
    ISSN 1478-7083 ; 0035-8843
    ISSN (online) 1478-7083
    ISSN 0035-8843
    DOI 10.1308/rcsann.2023.0067
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Uk I Zs.234: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  3. Article ; Online: Soft hybrid intrinsically motile robot for wireless small bowel enteroscopy.

    Khan, Hamza / Alijani, Afshin / Mowat, Craig / Cuschieri, Alfred

    Surgical endoscopy

    2022  Volume 36, Issue 6, Page(s) 4624–4630

    Abstract: ... esophageal motility.: Methods: The aim of this communication is to describe the initial prototype, P ... of equivalent diameter to human small intestine, the intrinsic circular clockwise motion of P: Conclusions ... These in-vitro experiments indicate that the P ...

    Abstract Background: Difficulties in establishing diagnosis of small bowel (SB) disorders, prevented their effective treatment. This problem was largely resolved by wireless capsule endoscopy (WCE), which has since become the first line investigation for suspected SB disorders. Several types of WCE pills are now used in clinical practice, despite their limitations and complications. WCE pills are large, rigid and immotile capsules. When swallowed, they provide SB enteroscopy downloaded to a data logger carried by the patient. Most of the complications of WCEs result from lack of intrinsic locomotion: incomplete examination, capsule retention and impaction within strictures. In addition, the rigid nature and size of current generation of WCE pills is accompanied by 0.1% inability to swallow the pill by patients with normal esophageal motility.
    Methods: The aim of this communication is to describe the initial prototype, P
    Results: The shape and attachment of the rubber vibrating legs to vibrating actuators, have been designed specifically to produce a tight clockwise circular motion. When inserted inside a circular tube in vitro of equivalent diameter to human small intestine, the intrinsic circular clockwise motion of P
    Conclusions: These in-vitro experiments indicate that the P
    MeSH term(s) Capsule Endoscopy ; Humans ; Intestinal Diseases ; Intestine, Small/diagnostic imaging ; Intestine, Small/pathology ; Nylons ; Polyvinyl Chloride ; Robotics
    Chemical Substances Nylons ; Polyvinyl Chloride (9002-86-2)
    Language English
    Publishing date 2022-01-31
    Publishing country Germany
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 639039-0
    ISSN 1432-2218 ; 0930-2794
    ISSN (online) 1432-2218
    ISSN 0930-2794
    DOI 10.1007/s00464-021-09007-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 2214: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  4. Article ; Online: Combining stable isotope ratios with elemental concentrations to improve the estimation of terrestrial carnivore diets

    Garth Mowat / Douglas C. Heard / P. Jeff Curtis

    Global Ecology and Conservation, Vol 45, Iss , Pp e02507- (2023)

    2023  

    Abstract: Stable isotopes of animal tissue have been used to estimate diet for many consumer species and places, but the ability to assign contributions to all food items is limited by the number of tracers used, and the separation of the tracer data among the ... ...

    Abstract Stable isotopes of animal tissue have been used to estimate diet for many consumer species and places, but the ability to assign contributions to all food items is limited by the number of tracers used, and the separation of the tracer data among the dietary sources. We tested whether we could detect caribou (Rangifer tarandus) in the diet of individual predators in southwest Canada, where caribou are endangered. The separation between caribou tissue and that of other common prey was minimal using C13 and N15 isotope ratios and our confidence in assigning the caribou diet fraction correctly was low despite testing several fractionation values and priors. We measured the concentration of a suite of elements in the tissue of lichen, large prey and predators to investigate whether we could use an elemental concentration as a diet tracer and better assign the caribou diet fraction, because several of these elements were known to be more abundant in lichen, a major food for caribou in winter. Strontium and cesium had higher concentrations, when normalized by a common salt (we chose calcium), in caribou tissue than the other prey species we measured; this was also true for strontium isotope ratios. The elemental tracers appeared to overestimate caribou in the diet however, we suggest that the addition of either cation could yield finer and more accurate estimates of diet for large terrestrial predators after further investigation. The addition of a strontium isotope ratio tracer to a diet investigation may be equally informative and require less pre-work, because one ratio (Sr87/Sr86) has already been well studied.
    Keywords Caribou ; Cougar ; Diet ; Elemental tracers ; Fractionation ; Stable isotopes ; Ecology ; QH540-549.5
    Subject code 590
    Language English
    Publishing date 2023-09-01T00:00:00Z
    Publisher Elsevier
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

    More links

    Kategorien

    Inter-library loan at ZB MED

    Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

  5. Article ; Online: Hemostatic profiles in dogs with sudden acquired retinal degeneration syndrome.

    Lynch, Alex M / Ruterbories, Laura K / Robertson, James B / Lunn, Katharine F / Mowat, Freya M

    Journal of veterinary internal medicine

    2023  Volume 37, Issue 3, Page(s) 948–959

    Abstract: ... 12.7 kdynes/s; range, 11.2-25.4; P = .04) and plasma fibrinogen concentration (median, 463 mg/dL ... range, 391-680; P < .001) compared to controls.: Conclusions and clinical importance ...

    Abstract Background: Sudden acquired retinal degeneration syndrome (SARDS) is a common cause of irreversible blindness in dogs. It bears clinical resemblance to hypercortisolism, which can be associated with hypercoagulability. The role of hypercoagulability in dogs with SARDS is unknown.
    Objective: Determine hemostatic profiles in dogs with SARDS.
    Animals: Prospective pilot study: Dogs with a history of SARDS (n = 12). Prospective case-control study: Dogs with recent onset of SARDS (n = 7) and age-, breed-, and sex-matched controls (n = 7).
    Methods: Prospective pilot study: We performed thromboelastography (TEG). Prospective case-control study: Dogs had CBC, serum biochemistry, urinalysis, TEG, fibrinogen concentration, antithrombin activity, D-dimers, thrombin-antithrombin complexes, and optical platelet aggregometry performed.
    Results: Prospective pilot study: 9/12 dogs with a history of SARDS were hypercoagulable with increased TEG G value and 2/3 had hyperfibrinogenemia. Case-control study: All dogs with SARDS and 5/7 controls were hypercoagulable based on TEG G value. Dogs with SARDS had significantly higher G values (median, 12.7 kdynes/s; range, 11.2-25.4; P = .04) and plasma fibrinogen concentration (median, 463 mg/dL; range, 391-680; P < .001) compared to controls.
    Conclusions and clinical importance: Hypercoagulability was common in both dogs with SARDS and controls, but dogs with SARDS were significantly more hypercoagulable on TEG. The role of hypercoagulability in the pathogenesis of SARDS remains to be determined.
    MeSH term(s) Dogs ; Animals ; Retinal Degeneration/veterinary ; Case-Control Studies ; Hemostatics ; Pilot Projects ; Thrombophilia/complications ; Thrombophilia/veterinary ; Fibrinogen ; Antithrombins ; Thrombelastography/veterinary ; Dog Diseases
    Chemical Substances Hemostatics ; Fibrinogen (9001-32-5) ; Antithrombins
    Language English
    Publishing date 2023-04-19
    Publishing country United States
    Document type Journal Article
    ZDB-ID 92798-3
    ISSN 1939-1676 ; 0891-6640
    ISSN (online) 1939-1676
    ISSN 0891-6640
    DOI 10.1111/jvim.16710
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 4095: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  6. Article ; Online: Quantifying refractive error in companion dogs with and without nuclear sclerosis: 229 eyes from 118 dogs.

    Francis, Jenelle M / Mowat, Freya M / Ludwig, Allison / Hicks, Jacqueline M / Pumphrey, Stephanie A

    Veterinary ophthalmology

    2023  Volume 27, Issue 1, Page(s) 70–78

    Abstract: ... grade.: Results: Age was strongly correlated with NS grade (p < .0001). Age-adjusted analysis of NS ... significantly associated with increasing NS grade (p = .02). VIS was associated weakly with refractive error ...

    Abstract Objective: To evaluate the relationship between nuclear sclerosis (NS) and refractive error in companion dogs.
    Animals studied: One hundred and eighteen companion dogs.
    Procedures: Dogs were examined and found to be free of significant ocular abnormalities aside from NS. NS was graded from 0 (absent) to 3 (severe) using a scale developed by the investigators. Manual refraction was performed. The effect of NS grade on refractive error was measured using a linear mixed effects analysis adjusted for age. The proportion of eyes with >1.5 D myopia in each NS grade was evaluated using a chi-square test. Visual impairment score (VIS) was obtained for a subset of dogs and compared against age, refractive error, and NS grade.
    Results: Age was strongly correlated with NS grade (p < .0001). Age-adjusted analysis of NS grade relative to refraction showed a mild but not statistically significant increase in myopia with increasing NS grade, with eyes with grade 3 NS averaging 0.58-0.88 D greater myopia than eyes without NS. However, the myopia of >1.5 D was documented in 4/58 (6.9%) eyes with grade 0 NS, 12/91 (13.2%) eyes with grade 1 NS, 13/57 (22.8%) eyes with grade 2 NS, and 7/23 (30.4%) eyes with grade 3 NS. Risk of myopia >1.5 D was significantly associated with increasing NS grade (p = .02). VIS was associated weakly with refractive error, moderately with age, and significantly with NS grade.
    Conclusions: NS is associated with visual deficits in some dogs but is only weakly associated with myopia. More work is needed to characterize vision in aging dogs.
    MeSH term(s) Dogs ; Animals ; Pets ; Sclerosis/pathology ; Sclerosis/veterinary ; Eye/pathology ; Refractive Errors/veterinary ; Refractive Errors/pathology ; Refraction, Ocular ; Myopia/pathology ; Myopia/veterinary ; Dog Diseases/pathology ; Cataract
    Language English
    Publishing date 2023-11-20
    Publishing country England
    Document type Journal Article
    ZDB-ID 2011043-1
    ISSN 1463-5224 ; 1463-5216
    ISSN (online) 1463-5224
    ISSN 1463-5216
    DOI 10.1111/vop.13163
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  7. Article ; Online: Reduced individual treatment delivery has no effect on outcomes in a multidisciplinary pain management program.

    Mowat, Rebecca M / Lewis, Gwyn N / Borotkanics, Robert

    Australian health review : a publication of the Australian Hospital Association

    2021  Volume 46, Issue 1, Page(s) 100–106

    Abstract: ... differences in any outcome measures between the two delivery formats overall. The QE Health Scale (P  < 0.001 ... and HADS depression (P  < 0.05) scores were significantly better for patients with rheumatoid ...

    Abstract Objective There is little information on how multidisciplinary pain management programs (MPMPs), the gold-standard treatment for people with chronic non-cancer pain, should be structured or delivered. This study compared outcomes from a 3-week in-patient MPMP between those who attended a group-based program that included 8 h of individual therapy each week and those who attended when the amount of individual therapy had been halved. Methods Participants were patients attending an MPMP with a large component of individual sessions (n  = 112; Standard) and patients attending the same MPMP after it switched to predominantly group-based sessions (n  = 117; Revised). The Hospital Anxiety and Depression Scale (HADS) and Queen Elizabeth (QE) Health Scale were administered to participants at baseline and discharge. Regression analysis was used to compare outcomes between the two delivery formats. Results There were no significant differences in any outcome measures between the two delivery formats overall. The QE Health Scale (P  < 0.001) and HADS depression (P  < 0.05) scores were significantly better for patients with rheumatoid arthritis or osteoarthritis who had undertaken the Revised program compared with the Standard program. Conclusions This study provides support that changing the amount of individual therapy within in-patient MPMPs does not change patient outcomes. However, there is evidence that those with rheumatoid arthritis and osteoarthritis respond better to a more group-based approach, suggesting that different populations may be suited to different delivery formats. What is known about the topic? Studies have shown mixed results as to whether group- or individual-based rehabilitation programs are more effective. Previous systematic reviews on physiotherapy- or psychological-based interventions have concluded that individual and group approaches are generally equivalent in terms of patient outcomes. MPMPs are trending towards more group-based delivery of content; however, it is unknown whether the equivalence of efficacy between group and individual formats extends to a chronic pain population receiving multidisciplinary care. What does this paper add? This research specifically adds to the knowledge that almost exclusive group delivery of therapy is just as effective as a program with more individual components in a population of patients participating in an MPMP. There is some evidence that those with rheumatoid arthritis and osteoarthritis in the almost exclusive group delivery program had better outcomes than those in the program with more individual components, indicating that specific conditions may benefit more from a group approach. What are the implications for practitioners? Practitioners can be confident that group delivery is just as effective as individual delivery of program components in an MPMP. Thus, decisions regarding the delivery format can be based on factors such as practical considerations, cost or patient and clinician preference.
    MeSH term(s) Analgesics, Opioid ; Chronic Pain/therapy ; Humans ; Outcome Assessment, Health Care ; Pain Management
    Chemical Substances Analgesics, Opioid
    Language English
    Publishing date 2021-10-13
    Publishing country Australia
    Document type Journal Article
    ZDB-ID 639155-2
    ISSN 1449-8944 ; 0159-5709 ; 0156-5788
    ISSN (online) 1449-8944
    ISSN 0159-5709 ; 0156-5788
    DOI 10.1071/AH21018
    Database MEDical Literature Analysis and Retrieval System OnLINE

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.B 3099: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  8. Book: Liver disorders in childhood

    Mowat, Alex P.

    1994  

    Author's details Alex P. Mowat
    Keywords Liver Diseases / in infancy & childhood ; Leberkrankheit ; Kind
    Subject Kindheit ; Kindesalter ; Kindschaft ; Kinder ; Lebererkrankung ; Leber ; Hepatopathie ; Hepatopathia
    Language English
    Size XII, 491 S. : Ill.
    Edition 3. ed.
    Publisher Butterworth-Heinemann
    Publishing place Oxford u.a.
    Publishing country Great Britain
    Document type Book
    HBZ-ID HT006340327
    ISBN 0-7506-1039-5 ; 978-0-7506-1039-1
    Database Catalogue ZB MED Medicine, Health

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    1994 A 3167 order for loan Magazin

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  9. Article ; Online: Infusion-fill method versus standard auto-fill trial of void protocol following a TVT-exact procedure: A randomised controlled trial.

    Mowat, Alexandra / Brown, Bernadette / Pelecanos, Anita / Mowat, Victoria / Frazer, Malcolm

    The Australian & New Zealand journal of obstetrics & gynaecology

    2018  Volume 58, Issue 5, Page(s) 564–569

    Abstract: ... from recovery was not different between the two groups (odds ratio (OR) 1.3 95% CI: 0.3-5.9, P = 0.71). The rate ... to the standard auto-fill group (OR 4.5 95% CI 1.2-17.4, P = 0.025). This means that three women will undergo ...

    Abstract Objective: To establish whether the infusion method trial of void (TOV) after a mid-urethral sling procedure, in contrast to the standard auto-fill TOV, permits discharge home from recovery, as these procedures are eminently suited to same day discharge, and the delay in achieving a successful TOV often keeps the patient in hospital overnight.
    Method: A randomised controlled trial performed between December 2014 and April 2016 at the University Hospital, enrolling 40 women undergoing a mid-urethral sling procedure for stress urinary incontinence. The women were randomised to infusion method or auto-fill method TOV. The primary outcome was discharge home from the recovery area of theatre.
    Results: Discharge from recovery was not different between the two groups (odds ratio (OR) 1.3 95% CI: 0.3-5.9, P = 0.71). The rate of TOV being successfully passed in recovery was higher in the infusion-fill group compared to the standard auto-fill group (OR 4.5 95% CI 1.2-17.4, P = 0.025). This means that three women will undergo the infusion-fill to achieve one more successful TOV in recovery.
    Conclusions: The infusion method resulted in more women passing their TOV in recovery but this did not translate into more discharges from recovery.
    MeSH term(s) Administration, Intravesical ; Female ; Humans ; Length of Stay ; Middle Aged ; Patient Discharge ; Postoperative Period ; Recovery Room ; Recovery of Function ; Saline Solution/administration & dosage ; Suburethral Slings ; Time Factors ; Urinary Incontinence, Stress/surgery ; Urination
    Chemical Substances Saline Solution
    Language English
    Publishing date 2018-01-31
    Publishing country Australia
    Document type Comparative Study ; Journal Article ; Randomized Controlled Trial
    ZDB-ID 390815-x
    ISSN 1479-828X ; 0004-8666
    ISSN (online) 1479-828X
    ISSN 0004-8666
    DOI 10.1111/ajo.12780
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 424: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

  10. Article ; Online: Incidence of Duchenne muscular dystrophy in the modern era; an Australian study.

    Kariyawasam, Didu / D'Silva, Arlene / Mowat, David / Russell, Jacqui / Sampaio, Hugo / Jones, Kristi / Taylor, Peter / Farrar, Michelle

    European journal of human genetics : EJHG

    2022  Volume 30, Issue 12, Page(s) 1398–1404

    Abstract: ... 1.69, p = 0.52). The incidence rate ratio of theoretically preventable cases did not significantly ... change between 2002-2007 and 2008-2012 (incidence rate ratio = 2.07, 95% CI 0.58-9.21, p = 0.23). Current ...

    Abstract Duchenne muscular dystrophy (DMD), an X-linked recessive condition is maternally inherited in two-thirds of affected boys. It is important to establish carrier status of female relatives to restore reproductive confidence for non-carriers and facilitate reproductive options and cardiac surveillance for carriers. This study investigates disease incidence within an Australian model of cascade screening and evolving genetic diagnostic technologies. A retrospective population-based cohort study of all genetically and/or histopathologically confirmed males with DMD, born in New South Wales and the Australian Capital Territory was undertaken from 2002-2012. Cases were identified using state-wide molecular laboratory and clinical databases. The annual disease incidence and "theoretically" preventable cases were extrapolated over the study period. Proband genotype/phenotype, pedigree analysis, carrier-risk and extent of cascade screening were also determined. The cumulative incidence of disease was 19.7 per 100,000 male live births and 1 in 5076 live born males were diagnosed with DMD. Differences in disease incidence were not statistically different when compared between 2002-2007 and 2008-2012 (incidence rate ratio = 1.13, 95% CI 0.76-1.69, p = 0.52). The incidence rate ratio of theoretically preventable cases did not significantly change between 2002-2007 and 2008-2012 (incidence rate ratio = 2.07, 95% CI 0.58-9.21, p = 0.23). Current diagnostic and cascade screening models have limitations in their impact on disease incidence, due to a spectrum of logistical, patient and condition related factors. Innovative approaches to reduce DMD incidence may be better achieved by preconception or early pregnancy carrier screening, prenatal exome sequencing and newborn screening.
    MeSH term(s) Humans ; Pregnancy ; Male ; Female ; Muscular Dystrophy, Duchenne/diagnosis ; Muscular Dystrophy, Duchenne/epidemiology ; Muscular Dystrophy, Duchenne/genetics ; Incidence ; Cohort Studies ; Retrospective Studies ; Australia/epidemiology
    Language English
    Publishing date 2022-06-27
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-022-01138-2
    Database MEDical Literature Analysis and Retrieval System OnLINE

    Full text online

    More links

    Kategorien

    In stock of ZB MED Cologne/Königswinter

    Zs.A 3589: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

    Order via subito

    This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

To top