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1.
Pediatr Surg Int ; 39(1): 115, 2023 Feb 11.
Artigo em Inglês | MEDLINE | ID: mdl-36773206

RESUMO

PURPOSE: To correlate age at hypospadias repair with early post-operative complications and highlight need for adaptation to post-operative care in older children. METHODS: Anecdotal evidence suggests boys with delayed surgery for hypospadias suffer increased rates of early post-operative complication. Hence, a retrospective analysis was conducted of all patients undergoing hypospadias repair between March 2019 and 2022. RESULTS: Ninety eight patients were divided into Group A (< 2years of age at first surgery) or Group B (> 2years). While patients in Group A encountered no early post-operative complications, seven in Group B (11%) suffered a range of complications including dislodged stents (3/7), significant spasmodic pain requiring prolonged hospital stay (2/7) and urinary retention (2/7). More than half of these children required emergency supra-pubic catheter insertion. CONCLUSION: Significantly more children undergoing hypospadias surgery after the age of 2 years suffered complications within the early post-operative period. This resulted in prolonged hospital stays and a number returning to theatre for insertion of a supra-pubic catheter. We recommend a tailored approach to the post-operative care of older children undergoing hypospadias repair, including strict parental education regarding dressing/stent care and medication compliance, as well as efforts to enhance robustness of dressings and stent anchorage in children likely to pull at stents.


Assuntos
Hipospadia , Procedimentos de Cirurgia Plástica , Criança , Masculino , Humanos , Lactente , Adolescente , Pré-Escolar , Hipospadia/cirurgia , Hipospadia/complicações , Estudos Retrospectivos , Uretra/cirurgia , Complicações Pós-Operatórias/etiologia
2.
Neurosurgery ; 91(4): 555-561, 2022 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-35876673

RESUMO

BACKGROUND: The Penumbra SMART COIL System includes a novel generation of embolic coils composed of complex and WAVE shape properties with varying levels of softness. OBJECTIVE: To assess safety and efficacy of the SMART COIL System through a 1-year follow-up in patients with small intracranial aneurysms. METHODS: This subset analysis of the SMART Registry, a prospective, multicenter study, includes patients with small intracranial aneurysms (≤4 mm) treated with the SMART COIL System. Registry end points include retreatment rates through 1 year, procedural device-related serious adverse events, and adequate occlusion postprocedure. RESULTS: Of 905 enrolled patients with aneurysms, 172 (19.0%) had small (≤4 mm) aneurysms (75.6% female; mean age 57.2 ± 13.4 years). 30.8% (53/172) of small aneurysms were ruptured, of which 50.9% (27/53) had Hunt and Hess ≥3. 79.5% (132/166) were wide-necked. Stent-assisted coiling and balloon-assisted coiling were performed in 37.2% (64/172) and 22.1% (38/172) of patients, respectively. The mean packing density for very small aneurysms was 44.9 (SD 25.23). Raymond Class I and Class II were achieved in 89.5% (154/172) postprocedure and 97.2% (137/141) at 1 year. The retreatment rate through 1 year was 5.6% (8/142), and the recanalization rate was 7.1% (10/141). The periprocedural device-related serious adverse event rate was 2.9% (5/172). Intraprocedural aneurysm rupture occurred in 0.8% of patients. CONCLUSION: This analysis suggests that the SMART COIL System is safe and efficacious in small aneurysms with satisfactory occlusion rates and low rates of rupture or rerupture. At 1 year, patients had low retreatment rates and good clinical outcomes.


Assuntos
Aneurisma Roto , Embolização Terapêutica , Aneurisma Intracraniano , Adulto , Idoso , Aneurisma Roto/etiologia , Aneurisma Roto/cirurgia , Embolização Terapêutica/efeitos adversos , Embolização Terapêutica/métodos , Feminino , Humanos , Aneurisma Intracraniano/diagnóstico por imagem , Aneurisma Intracraniano/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Sistema de Registros , Estudos Retrospectivos , Stents/efeitos adversos , Resultado do Tratamento
3.
Brain Inj ; 35(8): 957-963, 2021 07 03.
Artigo em Inglês | MEDLINE | ID: mdl-34184612

RESUMO

INTRODUCTION: Traumatic brain injury (TBI) is amongst the leading causes of morbidity and mortality worldwide. The unprecedented emergence of COVID-19 has mandated neurosurgeons to limit viral spread and spare hospital resources whilst trying to adapt management plans for TBI. We aimed to characterize how this affects decision-making on TBI management and drive strategies to cope with future expected waves. METHODS: Retrospective TBI data collection from a single tertiary referral unit was performed between: 01/04/2019 - 30/06/2019 ('Pre-Epidemic') and 01/04/2020 - 30/06/20 ('Epidemic'). Demographics, mechanism of injury, TBI severity, radiological findings, alcohol/anticoagulants/antiplatelets use, and management decisions were extracted. RESULTS: 646 TBI referrals were received in 'Pre-Epidemic' (N = 317) and 'Epidemic' (N = 280) groups. There was reduction in RTA-associated TBI (14.8 vs 9.3%; p = .04) and increase in patients on anticoagulants (14.2 vs 23.6%; p = .003) in the 'Epidemic' group. Despite similarities between other TBI-associated variables, a significantly greater proportion of patients were managed conservatively in local referring units without neurosurgical services (39.1 vs 56.8%; p < .0001), predominantly constituted by mild TBI. CONCLUSION: Despite COVID-19 public health measures, the burden of TBI remains eminent. Increases in local TBI management warrant vigilance from primary healthcare services to meet post-TBI needs in the community.


Assuntos
Concussão Encefálica , Lesões Encefálicas Traumáticas , COVID-19 , Lesões Encefálicas Traumáticas/epidemiologia , Lesões Encefálicas Traumáticas/terapia , Humanos , Estudos Retrospectivos , SARS-CoV-2
4.
Front Neurol ; 12: 637551, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33927680

RESUMO

Introduction: Penumbra SMART COIL® (SMART) System is a novel generation embolic coil with varying stiffness. The study purpose was to report real-world usage of the SMART System in patients with intracranial aneurysms (ICA) and non-aneurysm vascular lesions. Materials and Methods: The SMART Registry is a post-market, prospective, multicenter registry requiring ≥75% Penumbra Coils, including SMART, PC400, and/or POD coils. The primary efficacy endpoint was retreatment rate at 1-year and the primary safety endpoint was the procedural device-related serious adverse event rate. Results: Between June 2016 and August 2018, 995 patients (mean age 59.6 years, 72.1% female) were enrolled at 68 sites in the U.S. and Canada. Target lesions were intracranial aneurysms in 91.0% of patients; 63.5% were wide-neck and 31.8% were ruptured. Adjunctive devices were used in 55.2% of patients. Mean packing density was 32.3%. Procedural device-related serious adverse events occurred in 2.6% of patients. The rate of immediate post-procedure adequate occlusion was 97.1% in aneurysms and the rate of complete occlusion was 85.2% in non-aneurysms. At 1-year, the retreatment rate was 6.8%, Raymond Roy Occlusion Classification (RROC) I or II was 90.0% for aneurysms, and Modified Rankin Scale (mRS) 0-2 was achieved in 83.1% of all patients. Predictors of 1-year for RROC III or retreatment (incomplete occlusion) were rupture status (P < 0.0001), balloon-assisted coiling (P = 0.0354), aneurysm size (P = 0.0071), and RROC III immediate post-procedure (P = 0.0086) in a model that also included bifurcation aneurysm (P = 0.7788). Predictors of aneurysm retreatment at 1-year was rupture status (P < 0.0001). Conclusions: Lesions treated with SMART System coils achieved low long-term retreatment rates. Clinical Trial Registration: https://www.clinicaltrials.gov/, identifier NCT02729740.

5.
HIV Med ; 21(9): 567-577, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32671970

RESUMO

OBJECTIVES: The aim of the study was to systematically review current studies reporting on clinical outcomes in people living with HIV (PLHIV) infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). METHODS: We conducted a systematic review using the Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) guidelines. A comprehensive literature search was conducted in Global Health, SCOPUS, Medline and EMBASE using pertinent key words and Medical Subject Headings (MeSH) terms relating to coronavirus disease 2019 (COVID-19) and HIV. A narrative synthesis was undertaken. Articles are summarized in relevant sections. RESULTS: Two hundred and eighty-five articles were identified after duplicates had been removed. After screening, eight studies were analysed, totalling 70 HIV-infected patients (57 without AIDS and 13 with AIDS). Three themes were identified: (1) controlled HIV infection does not appear to result in poorer COVID-19 outcomes, (2) more data are needed to determine COVID-19 outcomes in patients with AIDS and (3) HIV-infected patients presenting with COVID-19 symptoms should be investigated for superinfections. CONCLUSIONS: Our findings suggest that PLHIV with well-controlled disease are not at risk of poorer COVID-19 disease outcomes than the general population. It is not clear whether those with poorly controlled HIV disease and AIDS have poorer outcomes. Superimposed bacterial pneumonia may be a risk factor for more severe COVID-19 but further research is urgently needed to elucidate whether PLHIV are more at risk than the general population.


Assuntos
Síndrome da Imunodeficiência Adquirida/complicações , COVID-19/complicações , Coinfecção , Síndrome da Imunodeficiência Adquirida/mortalidade , Síndrome da Imunodeficiência Adquirida/patologia , Síndrome da Imunodeficiência Adquirida/virologia , COVID-19/mortalidade , COVID-19/patologia , COVID-19/virologia , Progressão da Doença , Feminino , Humanos , MEDLINE , Masculino , Aplicações da Informática Médica , Fatores de Risco
6.
Br J Biomed Sci ; 77(3): 148-151, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32091306

RESUMO

A diagnostic semen analysis should be performed as part of a couple's routine fertility investigations in order to determine sperm quality prior to managing the treatment pathway. The semen analysis report should be considered alongside clinical discussions and a review of both patients' medical history. However, whilst it is part of the standard patient pathway, a regular up-to-date review at each clinical step of a patients' journey is not always performed, which may miss potential clinical changes that could impact the most effective management of the couple. This case study reports the impact on the semen quality of a post-operative infection and hospitalisation of a male patient on a fertility management pathway.


Assuntos
Espermatozoides/fisiologia , Adulto , Fertilidade/fisiologia , Humanos , Infertilidade Masculina/diagnóstico , Masculino , Análise do Sêmen/métodos , Contagem de Espermatozoides
7.
Sci Data ; 6(1): 161, 2019 08 29.
Artigo em Inglês | MEDLINE | ID: mdl-31467271

RESUMO

Sustained, quantitative observations of nearshore waves and sand levels are essential for testing beach evolution models, but comprehensive datasets are relatively rare. We document beach profiles and concurrent waves monitored at three southern California beaches during 2001-2016. The beaches include offshore reefs, lagoon mouths, hard substrates, and cobble and sandy (medium-grained) sediments. The data span two energetic El Niño winters and four beach nourishments. Quarterly surveys of 165 total cross-shore transects (all sites) at 100 m alongshore spacing were made from the backbeach to 8 m depth. Monthly surveys of the subaerial beach were obtained at alongshore-oriented transects. The resulting dataset consists of (1) raw sand elevation data, (2) gridded elevations, (3) interpolated elevation maps with error estimates, (4) beach widths, subaerial and total sand volumes, (5) locations of hard substrate and beach nourishments, (6) water levels from a NOAA tide gauge (7) wave conditions from a buoy-driven regional wave model, and (8) time periods and reaches with alongshore uniform bathymetry, suitable for testing 1-dimensional beach profile change models.

8.
Lancet ; 393(10175): 998-1008, 2019 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-30860055

RESUMO

BACKGROUND: Stent retriever thrombectomy of large-vessel occlusion results in better outcomes than medical therapy alone. Alternative thrombectomy strategies, particularly a direct aspiration as first pass technique, while promising, have not been rigorously assessed for clinical efficacy in randomised trials. We designed COMPASS to assess whether patients treated with aspiration as first pass have non-inferior functional outcomes to those treated with a stent retriever as first line. METHODS: We did a multicentre, randomised, open label, blinded outcome, core lab adjudicated non-inferiority trial at 15 sites (ten hospitals and four specialty clinics in the USA and one hospital in Canada). Eligible participants were patients presenting with acute ischaemic stroke from anterior circulation large-vessel occlusion within 6 h of onset and an Alberta Stroke Program Early CT Score of greater than 6. We randomly assigned participants (1:1) via a central web-based system without stratification to either direct aspiration first pass or stent retriever first line thrombectomy. Those assessing primary outcomes via clinical examinations were masked to group assignment as they were not involved in the procedures. Physicians were allowed to use adjunctive technology as was consistent with their standard of care. The null hypothesis for this study was that patients treated with aspiration as first pass achieve inferior outcomes compared with those treated with a stent retriever first line approach. The primary outcome was non-inferiority of clinical functional outcome at 90 days as measured by the percentage of patients achieving a modified Rankin Scale score of 0-2, analysed by intent to treat; non-inferiority was established with a margin of 0·15. All randomly assigned patients were included in the safety analyses. This trial is registered at ClinicalTrials.gov, number: NCT02466893. FINDINGS: Between June 1, 2015, and July 5, 2017, we assigned 270 patients to treatment: 134 to aspiration first pass and 136 to stent retriever first line. A modified Rankin score of 0-2 at 90 days was achieved by 69 patients (52%; 95% CI 43·8-60·3) in the aspiration group and 67 patients (50%; 41·6-57·4) in the stent retriever group, showing that aspiration as first pass was non-inferior to stent retriever first line (pnon-inferiority=0·0014). Intracranial haemorrhage occurred in 48 (36%) of 134 in the aspiration first pass group, and 46 (34%) of 135 in the stent retriever first line group. All-cause mortality at 3 months occurred in 30 patients (22%) in both groups. INTERPRETATION: A direct aspiration as first pass thrombectomy conferred non-inferior functional outcome at 90 days compared with stent retriever first line thrombectomy. This study supports the use of direct aspiration as an alternative to stent retriever as first-line therapy for stroke thrombectomy. FUNDING: Penumbra.


Assuntos
Isquemia Encefálica/cirurgia , Stents , Trombectomia/métodos , Tromboembolia/cirurgia , Idoso , Método Duplo-Cego , Estudos de Equivalência como Asunto , Feminino , Humanos , Masculino , Trombólise Mecânica/métodos , Pessoa de Meia-Idade , Estudos Prospectivos , Resultado do Tratamento
9.
Br J Biomed Sci ; 75(2): 53-60, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29421949

RESUMO

In order to ensure the quality and integrity of diagnostic semen analysis results, materials used should be tested to ensure that they do not interfere with sperm function. As a toxicity test, complex sperm function testing may be considered controversial, since the fertilizing capacity of single sperm can never be assured. In preference, sperm motility offers a unique means of assessing the toxicity of reagents and materials before they are used in routine practice. Motility is the semen parameter most likely to be influenced by the external environment. Indeed, it is the main reason that laboratories insist on supplying their own approved specimen containers and ensuring that patients, as far as possible, adhere to strict conditions for sample collection and transport prior to testing. This differs to other indirect tests of toxicity such as the mouse embryo assay, whereby the rate of mouse pre-implantation embryo development to the blastocyst stage is compared. This guideline is aimed at health care scientists who deal with andrology in both general pathology and specialised fertility laboratories, and provides a model approach to sperm toxicity testing. For assisted reproduction clinics, the same methodology can be used to test any consumables that are used for sperm processing, and as an indirect guide for any consumables that come into direct contact with oocytes and pre-implantation embryos.


Assuntos
Desenvolvimento Embrionário/genética , Análise do Sêmen/normas , Motilidade dos Espermatozoides/genética , Espermatozoides/metabolismo , Andrologia/normas , Animais , Blastocisto/metabolismo , Feminino , Guias como Assunto , Humanos , Masculino , Camundongos , Oócitos/metabolismo , Manejo de Espécimes , Espermatozoides/crescimento & desenvolvimento , Reino Unido
10.
Br J Biomed Sci ; 74(4): 157-162, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28657490

RESUMO

Uncertainty of measurement has become a paramount factor to consider in pathology. In the UK, consideration of uncertainty of measurement is mandatory for medical laboratories who apply to be accredited against ISO15189:2012 via the United Kingdom Accreditation Service. This guideline intends to help those working within diagnostic andrology to better understand the concept of uncertainty, and how it can be applied to semen analysis and post-vasectomy semen analysis. The various areas where uncertainty may exist are identified, and guidance is provided to minimise this uncertainty. This guidance is produced by the Association of Biomedical Andrologists alongside experts in the field of andrology, in order to aid laboratory scientists in understanding and undertaking important tasks that will improve quality of their service.


Assuntos
Andrologia , Guias de Prática Clínica como Assunto , Incerteza , Humanos , Masculino , Controle de Qualidade , Análise do Sêmen , Motilidade dos Espermatozoides , Reino Unido
11.
J Clin Pathol ; 69(7): 655-60, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27083211

RESUMO

Post-vasectomy semen analysis (PVSA) is the procedure used to establish whether sperm are present in the semen following a vasectomy. PVSA is presently carried out by a wide variety of individuals, ranging from doctors and nurses in general practitioner (GP) surgeries to specialist scientists in andrology laboratories, with highly variable results.Key recommendations are that: (1) PVSA should take place a minimum of 12 weeks after surgery and after a minimum of 20 ejaculations. (2) Laboratories should routinely examine samples within 4 h of production if assessing for the presence of sperm. If non-motile sperm are observed, further samples must be examined within 1 h of production. (3) Assessment of a single sample is acceptable to confirm vasectomy success if all recommendations and laboratory methodology are met and no sperm are observed. Clearance can then be given. (4) The level for special clearance should be <100 000/mL non-motile sperm. Special clearance cannot be provided if any motile sperm are observed and should only be given after assessment of two samples in full accordance with the methods contained within these guidelines. Surgeons are responsible both preoperatively and postoperatively for the counselling of patients and their partners regarding complications and the possibility of late recanalisation after clearance. These 2016 guidelines replace the 2002 British Andrology Society (BAS) laboratory guidelines and should be regarded as definitive for the UK in the provision of a quality PVSA service, accredited to ISO 15189:2012, as overseen by the United Kingdom Accreditation Service (UKAS).


Assuntos
Análise do Sêmen/métodos , Vasectomia/métodos , Humanos , Masculino , Período Pós-Operatório , Reino Unido
12.
Hum Reprod ; 30(8): 1755-62, 2015 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26071417

RESUMO

STUDY QUESTION: What is the recognition of clinical embryology and the current status of clinical embryologists in European countries, regarding educational levels, responsibilities and workload, and need for a formal education in assisted reproductive technology (ART)? SUMMARY ANSWER: It is striking that the profession of clinical embryology, almost 40 years after the introduction of IVF, is still not officially recognized in most European countries. WHAT IS KNOWN ALREADY: Reproductive medicine has developed into a sophisticated multidisciplinary medical branch since the birth of Louise Brown 37 years ago. The European Board & College of Obstetrics and Gynaecology (EBCOG) has recognized reproductive medicine as a subspeciality and has developed a subspeciality training for gynaecologists in collaboration with the European Society for Human Reproduction and Embryology (ESHRE). However, nothing similar exists for the field of clinical embryology or for clinical embryologists. STUDY DESIGN, SIZE, DURATION: A questionnaire about the situation in clinical embryology in the period of 2012-2013 in the respective European country was sent to ESHRE National representatives (basic scientists only) in December 2013. At this time, 28 European countries had at least one basic scientist in the ESHRE Committee of National Representatives. PARTICIPANTS/MATERIALS, SETTING, METHODS: The survey consisted of 46 numeric, dichotomous (yes/no) or descriptive questions. Answers were obtained from 27 out of 28 countries and the data were tabulated. Data about the numbers of 'ESHRE Certified Embryologists' were taken from the ESHRE Steering Committee for Embryologist Certification. MAIN RESULTS AND THE ROLE OF CHANCE: In 2012, more than 7000 laboratory staff from 1349 IVF clinics in 27 European countries performed over 700 000 fresh and frozen ART cycles. Despite this, clinical embryology is only recognized as an official profession in 3 out of 27 national health systems. In most countries clinical embryologists need to be registered under another profession, and have limited possibilities for organized education in clinical embryology. Mostly they are trained for practical work by senior colleagues. ESHRE embryologist certification so far constitutes the only internationally recognized qualification; however this cannot be considered a subspecialization. LIMITATIONS, REASONS FOR CAUTION: Data were obtained through different methods, by involving national embryologist societies and cycle registers, collecting information from centre to centre, and in some cases by individual assessment of the situation. For these reasons, the results should be interpreted with caution. WIDER IMPLICATIONS OF THE FINDINGS: This paper presents the current status of clinical embryology and clinical embryologists in Europe and is an important step towards implementation of clinical embryology as an officially recognized profession. STUDY FUNDING/COMPETING INTERESTS: None. TRIAL REGISTRATION NUMBER: No.


Assuntos
Médicos , Medicina Reprodutiva/educação , Técnicas de Reprodução Assistida , Sociedades Médicas , Europa (Continente) , Feminino , Humanos , Masculino , Gravidez , Taxa de Gravidez , Sistema de Registros
13.
AJNR Am J Neuroradiol ; 36(1): 108-15, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25355814

RESUMO

BACKGROUND AND PURPOSE: Flow diverters are increasingly used in the endovascular treatment of intracranial aneurysms. Our aim was to determine neurologic complication rates following Pipeline Embolization Device placement for intracranial aneurysm treatment in a real-world setting. MATERIALS AND METHODS: We retrospectively evaluated all patients with intracranial aneurysms treated with the Pipeline Embolization Device between July 2008 and February 2013 in 17 centers worldwide. We defined 4 subgroups: internal carotid artery aneurysms of ≥10 mm, ICA aneurysms of <10 mm, other anterior circulation aneurysms, and posterior circulation aneurysms. Neurologic complications included spontaneous rupture, intracranial hemorrhage, ischemic stroke, permanent cranial neuropathy, and mortality. Comparisons were made with t tests or ANOVAs for continuous variables and the Pearson χ(2) or Fisher exact test for categoric variables. RESULTS: In total, 793 patients with 906 aneurysms were included. The neurologic morbidity and mortality rate was 8.4% (67/793), highest in the posterior circulation group (16.4%, 9/55) and lowest in the ICA <10-mm group (4.8%, 14/294) (P = .01). The spontaneous rupture rate was 0.6% (5/793). The intracranial hemorrhage rate was 2.4% (19/793). Ischemic stroke rates were 4.7% (37/793), highest in patients with posterior circulation aneurysms (7.3%, 4/55) and lowest in the ICA <10-mm group (2.7%, 8/294) (P = .16). Neurologic mortality was 3.8% (30/793), highest in the posterior circulation group (10.9%, 6/55) and lowest in the anterior circulation ICA <10-mm group (1.4%, 4/294) (P < .01). CONCLUSIONS: Aneurysm treatment with the Pipeline Embolization Device is associated with the lowest complication rates when used to treat small ICA aneurysms. Procedure-related morbidity and mortality are higher in the treatment of posterior circulation and giant aneurysms.


Assuntos
Embolização Terapêutica/instrumentação , Procedimentos Endovasculares/instrumentação , Aneurisma Intracraniano/terapia , Idoso , Idoso de 80 Anos ou mais , Embolização Terapêutica/efeitos adversos , Procedimentos Endovasculares/efeitos adversos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos
14.
J Anim Sci ; 92(7): 2896-904, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24802042

RESUMO

Interest in genetic improvement of carcass and tenderness traits of beef cattle using genome-based selection (GS) and marker-assisted management programs is increasing. The success of such a program depends on the presence of linkage disequilibrium between the observed markers and the underlying QTL as well as on the relationship between the discovery, validation, and target populations. For molecular breeding values (MBV) predicted for a target population using SNP markers, reliabilities of these MBV can be obtained from validation analyses conducted in an independent population distinct from the discovery set. The objective of this study was to test MBV predicted for carcass and tenderness traits of beef cattle in a Canadian-based validation population that is largely independent of a United States-based discovery set. The discovery data set comprised of genotypes and phenotypes from >2,900 multibreed beef cattle while the validation population consisted of 802 crossbred feeder heifers and steers. A bivariate animal model that fitted actual phenotype and MBV was used for validation analyses. The reliability of MBV was defined as square of the genetic correlation (R(2) g) that represents the proportion of the additive genetic variance explained by the SNP markers. Several scenarios involving different starting marker panels (384, 3K, 7K, and 50K) and different sets of SNP selected to compute MBV (50, 100, 200, 375, 400, 600, and 800) were investigated. Validation results showed that the most reliable MBV (R(2) g) were 0.34 for HCW, 0.36 for back fat thickness, 0.28 for rib eye area, 0.30 for marbling score, 0.25 for yield grade, and 0.38 for Warner-Bratzler shear force across the different scenarios explored. The results indicate that smaller SNP panels can be developed for use in genetic improvement of beef carcass and tenderness traits to exploit GS benefits.


Assuntos
Cruzamento/normas , Bovinos/genética , Carne/normas , Animais , Cruzamento/métodos , Bovinos/anatomia & histologia , Feminino , Marcadores Genéticos/genética , Masculino , Biologia Molecular/métodos , Biologia Molecular/normas , Músculo Esquelético/anatomia & histologia , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , Característica Quantitativa Herdável , Reprodutibilidade dos Testes
16.
J Dairy Sci ; 95(3): 1559-64, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22365236

RESUMO

Data from 879 Holstein cows from 11 tie-stall herds in Pennsylvania were analyzed to determine the effects of nutritional management practices on the level of genetic expression for milk, fat, and protein yields. Environments were defined according to the amount of dry matter refusals at the end of 24h for the average cow (DMR), diet crude protein percentage (CP), and diet NE(L) concentration. Sire predicted transmitting ability (PTA) was available for all cows, whereas 775 cows were genotyped and received a molecular breeding value (MBV) for milk, fat, and protein yields. Milk, fat, and protein yields were regressed on sire PTA and cow MBV independently in addition to combined breeding values (CBV) of sire PTA and cow MBV. Four-trait animal models with fat-corrected milk yield in high and low environments plus either body weight or body condition score in high and low environments treated as separate traits were also evaluated. Regressions on sire PTA (0.31 for fat yield to 0.54 for milk yield) were significantly lower in the 5 herds that had the lowest average DMR than in the 6 herds with highest average DMR (0.82 for fat yield to 1.11 for protein yield). The regressions of milk and protein yield on CBV were also significantly lower in the 5 herds with low NE(L) concentration in the ration than in herds that had high NE(L) concentration. Genetic correlations from animal models showed that large cows were more affected by low DMR, CP, and NE(L) concentration than smaller cows. Efforts to minimize feed wastage must ensure that cows receive adequate nutrient intake to avoid suppression of genetic potential for yield, particularly for larger cows.


Assuntos
Bovinos/genética , Ingestão de Alimentos/genética , Lactação/genética , Proteínas do Leite/análise , Leite/química , Animais , Bovinos/fisiologia , Dieta/veterinária , Ingestão de Alimentos/fisiologia , Gorduras/análise , Feminino , Interação Gene-Ambiente , Genótipo , Lactação/fisiologia , Masculino , Característica Quantitativa Herdável
17.
J Perinatol ; 31(10): 641-6, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21311498

RESUMO

OBJECTIVE: For infants born with extremely low birth weight (ELBW), we examined the (1) correlation between results on the Ages and Stages Questionnaire (ASQ) and the Bayley Scales of Infant Development-II (BSID-II) at 18 to 22 months corrected age; (2) degree to which earlier ASQ assessments predict later BSID-II results; (3) impact of ASQ use on follow-up study return rates. STUDY DESIGN: ASQ data were collected at 4, 8, 12 and 18 to 22 months corrected age. The BSID-II was completed at 18 to 22 months corrected age. ASQ and BSID-II 18 to 22 month sensitivity and specificity were examined. Ability of earlier ASQs to predict later BSID-II scores was examined through linear regression analyses. RESULT: ASQ sensitivity and specificity at 18 to 22 months were 73 and 65%, respectively. Moderate correlation existed between earlier ASQ and later BSID-II results. CONCLUSION: For extremely low birth weight infant assessment, the ASQ cannot substitute for the BSID-II, but seems to improve tracking success.


Assuntos
Desenvolvimento Infantil , Recém-Nascido de Peso Extremamente Baixo ao Nascer , Exame Neurológico , Inquéritos e Questionários , Deficiências do Desenvolvimento/diagnóstico , Humanos , Lactente , Recém-Nascido , Desempenho Psicomotor
18.
J Anim Sci ; 88(2): 517-22, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19897629

RESUMO

The objectives were to estimate genetic parameters needed to elucidate the relationships of a molecular breeding value (MBV) for marbling, intramuscular fat (IMF) of yearling bulls measured with ultrasound, and marbling score (MRB) of slaughtered steers, and to assess the utility of MBV and IMF in predicting the breeding value for MRB. Records for MRB (n = 38,296) and IMF (n = 6,594) were from the American Angus Association database used for national cattle evaluation. A total of 1,006 records of MBV were used in this study. (Co)variance components were estimated with ASREML, fitting an animal model with fixed contemporary groups for MRB and IMF similar to those used in the Angus national genetic evaluation. The overall mean was the only fixed effect included in the model for MBV. Heritability estimates for carcass measures were 0.48 +/- 0.03, 0.31 +/- 0.03, and 0.98 +/- 0.05 for MRB, IMF, and MBV, respectively. Genetic correlations of IMF and MBV with MRB were 0.56 +/- 0.09 and 0.38 +/- 0.10, respectively. The genetic correlation between IMF and MBV was 0.80 +/- 0.22. These results indicate the MBV evaluated may yield a greater genetic advance of approximately 20% when used as an indicator trait for genetic prediction of MRB compared with IMF. However, neither of these indicators alone provides sufficient information to produce highly accurate prediction of breeding value for the economically relevant trait MRB. Given that the goal is a highly accurate prediction of true breeding value for MRB, results of this work point to the need to 1) continue progeny testing, and 2) continue increasing the genetic correlation between the MBV and MRB.


Assuntos
Bovinos/genética , Carne/normas , Tecido Adiposo/anatomia & histologia , Tecido Adiposo/diagnóstico por imagem , Animais , Bovinos/anatomia & histologia , Marcadores Genéticos/genética , Variação Genética/genética , Genótipo , Masculino , Modelos Genéticos , Músculo Esquelético/anatomia & histologia , Músculo Esquelético/diagnóstico por imagem , Músculo Esquelético/metabolismo , Fenótipo , Característica Quantitativa Herdável , Ultrassonografia
19.
Genet Mol Res ; 8(4): 1360-6, 2009 Nov 17.
Artigo em Inglês | MEDLINE | ID: mdl-19937580

RESUMO

The association between two single nucleotide polymorphisms (SNPs), T945M and UCP1SNP1, with hot carcass weight (HCW, kg, N = 618), longissimus dorsi muscle area (REA, cm(2), N = 633), and backfat thickness (BF, mm, N = 625), measured in Nellore cattle in Brazil, was evaluated. Likelihood ratio tests were used to evaluate reduced (fixed effects of general mean, contemporary group, yearling weight, age at slaughter, and random effect of infinitesimal genetic value) and full model (reduced model effects plus quantitative trait locus effects). Additive and dominance effects were tested for each SNP. Genotypic and gene frequencies were also obtained for the SNPs and a descriptive phenotype analysis was made. Mean values for HCW, REA and BF were equal to 288.13 +/- 0.55 kg, 73.14 +/- 0.27 cm(2), and 4.28 +/- 0.07 mm, respectively; the coefficients of variation were 4.74, 9.24, and 42.43%, respectively. Gene frequencies for T945M and UCP1SNP1 were f(C) = 0.89, f(T) = 0.11, f(C) = 0.81, and f(G) = 0.19. The SNP T945M had a genotypic frequency of only three animals for TT genotype. Additive effects were observed for T945M on REA and BF, while UCP1SNP1 affected HCW and BF. Based on the significant additive effects of the SNPs and the gene frequencies that we found, we can expect genetic gains with marker assisted selection.


Assuntos
Bovinos/genética , Polimorfismo de Nucleotídeo Único , Animais , Marcadores Genéticos , Fenótipo
20.
Br J Ophthalmol ; 93(3): 305-9, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-19019935

RESUMO

BACKGROUND/AIMS: This study evaluated the short-term safety and feasibility of epiretinal strontium-90 brachytherapy delivered concomitantly with intravitreal bevacizumab for the treatment of subfoveal CNV due to AMD for 12 months. A 3-year follow-up is planned. METHODS: In this prospective, non-randomised, multicentre study, 34 treatment-naïve patients with predominantly classic, minimally classic and occult subfoveal CNV lesions received a single treatment with 24 Gy beta radiation (strontium-90) and two injections of the anti-VEGF antibody bevacizumab. Adverse events were observed. BCVA was measured using standard ETDRS vision charts. RESULTS: Twelve months after treatment, no radiation-associated adverse events were observed. In the intent-to-treat (ITT) population, 91% of patients lost <3 lines (15 ETDRS letters) of vision at 12 months, 68% improved or maintained their BCVA at 12 months, and 38% gained >/=3 lines. The mean change in BCVA observed at month 12 was a gain of 8.9 letters. CONCLUSION: The safety and efficacy of intraocular, epiretinal brachytherapy delivered concomitantly with anti-VEGF therapy for the treatment of subfoveal CNV secondary to AMD were promising in this small study population. Long-term safety will be assessed for 3 years. This regimen is being evaluated in a large, multicentre, phase III study.


Assuntos
Inibidores da Angiogênese/uso terapêutico , Anticorpos Monoclonais/uso terapêutico , Neovascularização de Coroide/radioterapia , Degeneração Macular/radioterapia , Compostos Radiofarmacêuticos/uso terapêutico , Radioisótopos de Estrôncio/uso terapêutico , Idoso , Idoso de 80 Anos ou mais , Anticorpos Monoclonais Humanizados , Bevacizumab , Braquiterapia/métodos , Neovascularização de Coroide/complicações , Neovascularização de Coroide/tratamento farmacológico , Terapia Combinada , Feminino , Humanos , Degeneração Macular/complicações , Degeneração Macular/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Estudos Prospectivos , Segurança , Resultado do Tratamento , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual
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