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1.
BMC Palliat Care ; 22(1): 135, 2023 Sep 12.
Artículo en Inglés | MEDLINE | ID: mdl-37697339

RESUMEN

BACKGROUND: Palliative care (PC) can reduce symptom distress and improve quality of life for patients and their families experiencing life-threatening illness. While the need for PC in Kenya is high, PC service delivery and research is limited. Qualitative research is needed to explore potential areas for PC research and support needed to enable that research. This insight is critical for informing a national PC research agenda and mobilizing limited resources for conducting rigorous PC research in Kenya. OBJECTIVES: To explore perceptions of priority areas for PC research and support needed to facilitate rigorous research from the perspective of Kenyan PC providers and leaders. METHODS: Focus groups (FGs) were conducted in November and December of 2018 using a semi-structured interview guide. FGs were audio-recorded, transcribed, and analyzed using a thematic content analysis approach. RESULTS: Three FGs were conducted (n = 22 participants). Ten themes related to PC research emerged, including research on: 1) beliefs about death, disease, and treatment to inform PC; 2) awareness about PC, 3) integration of PC within the health system; 4) understanding caregiver experiences and needs; 5) community health volunteers (CHVs) and volunteer programs; 6) evaluation of costs and benefits of PC; 7) treatment approaches, including complementary and alternative medicine (CAM) and advanced diagnostics at end of life; 8) other suggestions for research, 9) populations in need of PC research; and 10) resources for enabling research. CONCLUSIONS: Kenyan PC providers and leaders identified key areas requiring increased scientific inquiry and critical resources needed to enable this research. These findings can help to focus future PC research in Kenya and encourage funding agencies to prioritize the issues identified.


Asunto(s)
Enfermería de Cuidados Paliativos al Final de la Vida , Cuidados Paliativos , Humanos , Kenia , Calidad de Vida , Grupos Focales
2.
BMC Health Serv Res ; 22(1): 402, 2022 Mar 26.
Artículo en Inglés | MEDLINE | ID: mdl-35351113

RESUMEN

BACKGROUND: There are significant challenges in ensuring sufficient clinician participation in quality improvement training. Clinician capability has been identified as a barrier to the delivery of evidence-based care. Clinician training is an effective strategy to address this barrier, however, there are significant challenges in ensuring adequate clinician participation in training. This study aimed to assess the extent of participation by antenatal clinicians in evidence-based training to address alcohol consumption during pregnancy, and to assess differences in participation by profession. METHODS: A 7-month training initiative based on six evidence-based principles was implemented in a maternity service in New South Wales, Australia. Descriptive statistics described participation in training (% attending: any training; six evidence-based principles of training; all principles). Regression analyses examined differences by profession. RESULTS: Almost all antenatal clinicians participated in some training (182/186; 98%); 69% participated in ≥1 h of training (µ = 88.2mins, SD:56.56). The proportion of clinicians participating in training that satisfied each of the six principles ranged from 35% (training from peers and experts) to 82% (training was educational and instructional). Only 7% participated in training that satisfied all principles. A significantly higher proportion of midwifery compared to medical clinicians participated in training satisfying five of the six training principles. CONCLUSIONS: A training initiative based on evidence-based principles resulted in almost all clinicians receiving some training and 69% participating in at least 1 h of training. Variability between professions suggests training needs to be tailored to such groups. Further research is required to determine possible associations with care delivery outcomes. TRIAL REGISTRATION: Australian and New Zealand Clinical Trials Registry, No. ACTRN12617000882325 (date registered: 16/06/2017).


Asunto(s)
Partería , Mejoramiento de la Calidad , Consumo de Bebidas Alcohólicas , Australia , Femenino , Humanos , Nueva Gales del Sur , Embarazo
3.
J Intellect Disabil Res ; 66(5): 442-453, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35285998

RESUMEN

BACKGROUND: Health disparities for children with intellectual disabilities can be challenging to measure due to many other factors that can impact health and healthcare use. The aim of the current study was to use longitudinal cohort data to compare children with intellectual disability (ID) in Ireland between 2006 and 2014 on healthcare utilisation and unmet need, at ages 9 and 13, using a propensity score matching (PSM) approach. METHODS: Using data from the Growing up in Ireland study, PSM was used to identify an appropriate control sample to compare with a sample of children with ID (n = 124). Participants were matched on variables that are known to influence healthcare utilisation to reduce the impact of confounding variables between groups so that differences between the groups can be estimated. Logistic regression was used to estimate effects at ages 9 and 13. RESULTS: Children with ID were no more likely to have visited a general practitioner or emergency department in the past 12 months than children without ID. They did have a greater likelihood of visiting a doctor in a hospital in the past 12 months and of having an overnight stay in hospital by age 9. Primary caregivers of children with ID were more likely to report unmet health needs at ages 9 and 13. CONCLUSIONS: This approach is a novel means of comparing healthcare use in this population by balancing the impact of other factors that may result in inequities, to which children with ID may be more vulnerable.


Asunto(s)
Discapacidad Intelectual , Adolescente , Niño , Estudios de Cohortes , Servicio de Urgencia en Hospital , Humanos , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/terapia , Aceptación de la Atención de Salud , Puntaje de Propensión
4.
Diabet Med ; 35(12): 1686-1692, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30175547

RESUMEN

AIM: Attending routine outpatient clinic appointments is a central self-management behaviour of individuals living with Type 1 diabetes. A large number of young adults with Type 1 diabetes disengage from diabetes services, which may contribute to poor psychosocial and diabetes outcomes. The aim of this study is to elicit preferences from young adults with Type 1 diabetes regarding clinic-related services to inform service delivery. METHODS: A discrete choice experiment was developed to understand the preferences of young adults with Type 1 diabetes for clinic-related services. RESULTS: Young adults recruited from young adult Type 1 diabetes clinics in 2016 completed the experiment (n = 105). Young adults with Type 1 diabetes showed a preference for shorter waiting times, seeing a nurse and a consultant, relative to a nurse alone, and a flexible booking system compared with fixed appointment times. Results suggest no preference for a nurse and a doctor, relative to a nurse alone, or other optional services (e.g. seeing dietitians or psychologists), type of HbA1c test and digital blood glucose diaries over paper-based diaries. CONCLUSION: This study highlights aspects of routine clinic appointments that are valued by young adults living with Type 1 diabetes, namely shorter waiting times at clinic, the option to see both a nurse and consultant at each visit and a flexible clinic appointment booking system. These findings suggest young adults with Type 1 diabetes value convenience and should help services to restructure their clinics to be more responsive to the needs of young adults.


Asunto(s)
Conducta de Elección , Diabetes Mellitus Tipo 1/terapia , Prioridad del Paciente , Adolescente , Adulto , Instituciones de Atención Ambulatoria , Glucemia/análisis , Automonitorización de la Glucosa Sanguínea/instrumentación , Automonitorización de la Glucosa Sanguínea/métodos , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/epidemiología , Diabetes Mellitus Tipo 1/psicología , Femenino , Grupos Focales , Humanos , Masculino , Prioridad del Paciente/psicología , Prioridad del Paciente/estadística & datos numéricos , Satisfacción del Paciente/estadística & datos numéricos , Relaciones Profesional-Paciente , Encuestas y Cuestionarios , Factores de Tiempo , Listas de Espera , Adulto Joven
5.
Ir J Med Sci ; 187(2): 301-307, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-28990151

RESUMEN

BACKGROUND: The transition from medical school to internship can be daunting for newly qualified doctors. High rates of stress and burnout have been reported, with negative impacts on patient care and physician wellbeing. AIMS: We surveyed interns in our hospital group to evaluate rates of stress and burnout, as well as identify the causative factors and propose potential solutions to these. METHODS: A hundred and one interns working in four different hospitals over a 2-year period were invited to participate in an anonymous survey. The survey collected basic demographic details and surveyed aspects of mental health using the burnout scale, Maslach Burnout Inventory (MBI) and the stress scale and 12-item General Health Questionnaire (GHQ-12). Interns were also asked to rate a variety of workplace factors on a Likert scale based on the degree of stress caused. Finally, they were surveyed on their awareness of support services available to them. RESULTS: Our results showed that 37% of interns met the criteria for psychological distress, high levels of emotional exhaustion, high depersonalisation and a low sense of personal accomplishment were reported in 55.4, 51.5 and 41.6%, respectively. Inadequate preparation for practice, financial worries, poor role definition and sleep deprivation were reported as significant stressors. Most were unaware of available support services and expressed interest in leaving Ireland after internship. CONCLUSIONS: Burnout and stress are significant problems amongst doctors in Irish hospitals. Ensuring better preparation for clinical practice and awareness of support services is vital to tackle this issue.


Asunto(s)
Agotamiento Profesional/psicología , Hospitales/normas , Internado y Residencia/normas , Médicos/psicología , Estrés Psicológico/etiología , Adulto , Estudios Transversales , Femenino , Humanos , Irlanda , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios , Adulto Joven
6.
Ir Med J ; 109(2): 359, 2016 Feb 19.
Artículo en Inglés | MEDLINE | ID: mdl-27685692

RESUMEN

There are now over 104,000 people living in Ireland with a cancer diagnosis. Using The Irish Longitudinal Study on Ageing (TILDA), healthcare utilisation of cancer survivors (aged 50 +) was compared with those without a history of cancer across service providers. Our cancer variable was stratified by time since diagnosis (2-5, 6-10, 11+ years) and type (breast, prostate, colorectal and a miscellaneous group of other cancers). While the probability of cancer survivors accessing GP services was not significant different to respondents without a history of cancer, the probability of an outpatient specialist office visit was 19.5, 11.8 and 14.0 percentage points higher, respectively for those 2-5years, 6-10 years and 11 years or more after their cancer diagnosis and was statistically significant. In Ireland, the pattern of GP and specialist use appears less well defined compared to other European countries. This suggests an overarching policy response is required for cancer survivorship care.

7.
BMJ Open ; 5(3): e006189corr1, 2015 Mar 31.
Artículo en Inglés | MEDLINE | ID: mdl-25829368
8.
Res Vet Sci ; 100: 21-30, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25818170

RESUMEN

Bovine viral diarrhoea virus (BVDV) and bovine herpesvirus 1 (BoHV-1) are contagious bovine viral agents. The objectives of this study were to use quarterly bulk milk and 'spot' testing of unvaccinated youngstock to establish the national prevalence of exposure to BVDV and/or BoHV-1 in Irish dairy herds. Seasonality of bulk milk ELISA results was also examined. From a geographically representative population of 305 dairy herds, 88% and 80% of herds yielded mean annual positive bulk milk readings for BVDV and BoHV-1, respectively. Of these, 61% were vaccinated against BVDV and 12% against BoHV-1. A total of 2171 serum samples from weanlings having a mean age of 291 days yielded 543 (25%) seropositive for BVDV, and 117 (5.4%) seropositive for BoHV-1. A significant seasonal trend in bulk milk antibody ELISA readings and herd status was recorded for BVDV, with more herds categorised as positive in the latter half of the year.


Asunto(s)
Diarrea Mucosa Bovina Viral/epidemiología , Virus de la Diarrea Viral Bovina/aislamiento & purificación , Herpesvirus Bovino 1/aislamiento & purificación , Rinotraqueítis Infecciosa Bovina/epidemiología , Animales , Anticuerpos Antivirales/sangre , Diarrea Mucosa Bovina Viral/virología , Bovinos , Ensayo de Inmunoadsorción Enzimática/veterinaria , Femenino , Rinotraqueítis Infecciosa Bovina/virología , Irlanda/epidemiología , Leche/virología , Prevalencia , Estaciones del Año
9.
J Dairy Sci ; 98(4): 2789-800, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25704967

RESUMEN

The objective of the current study was to quantify the effects of exposure to Salmonella, Neospora caninum, and Leptospira interrogans serovar Hardjo (L. hardjo) on dairy farm profitability and to simulate the effect of vaccination for Salmonella and L. hardjo on dairy farm profitability. The production effects associated with exposure to each of these pathogens in study herds were defined under 3 categories: (1) milk production effects, (2) reproduction effects (including culling), and (3) mortality effects. The production effects associated with exposure to Salmonella, N. caninum, and L. hardjo were incorporated into the Moorepark Dairy Systems Model. In the analysis, herds negative for exposure to Salmonella, N. caninum, and L. hardjo were assumed baseline herds, with all results presented relative to this base. In simulations examining the effect of vaccination for Salmonella and L. hardjo on farm profitability, vaccinated herds (vaccination costs included) were considered as baseline herds and results were presented relative to this base. Total annual profits in unvaccinated herds were reduced by €77.31, €94.71, and €112.11 per cow at milk prices of €0.24, €0.29, and €0.34/L, respectively, as a result of exposure to Salmonella. In the current study, herds positive for exposure to Salmonella recorded a 316-kg reduction in milk yield, whereas no association was detected between exposure to N. caninum or L. hardjo and milk production. Exposure to both N. caninum and L. hardjo was associated with compromised reproductive performance. Herds positive for exposure to N. caninum and Salmonella had greater rates of adult cow mortality and calf mortality, respectively. Vaccination for both Salmonella and L. hardjo was associated with improved performance in study herds. Exposure to N. caninum resulted in a reduction in annual farm profits of €11.55, €12, and €12.44 per cow at each milk price, whereas exposure to L. hardjo resulted in a reduction in annual farm profits of €13.83, €13.78, and €13.72 per cow at each milk price. Herds that tested positive for exposure to Salmonella and L. hardjo were compared with herds vaccinated for the respective pathogens. Herds vaccinated for Salmonella generated €67.09, €84.48, and €101.89 per cow more profit at each milk price compared with herds positive for exposure. Similarly, herds vaccinated for L. hardjo generated €9.74, €9.69, and €9.63 per cow more profit compared with unvaccinated exposed herds. However, herds that tested negative for exposure to Salmonella and L. hardjo generated additional profits of €10.22 and €4.09 per cow, respectively, compared with vaccinated baseline herds.


Asunto(s)
Enfermedades de los Bovinos/microbiología , Coccidiosis/veterinaria , Leptospirosis/veterinaria , Salmonelosis Animal/microbiología , Animales , Anticuerpos Antibacterianos , Bovinos , Enfermedades de los Bovinos/economía , Enfermedades de los Bovinos/epidemiología , Coccidiosis/epidemiología , Femenino , Irlanda/epidemiología , Leptospira interrogans/clasificación , Leptospirosis/epidemiología , Leptospirosis/microbiología , Leche/economía , Neospora , Reproducción , Salmonella , Salmonelosis Animal/epidemiología
10.
Animal ; 8(6): 1010-9, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24661904

RESUMEN

A survey of management practices in 309 Irish dairy herds was used to identify risk factors for the presence of antibodies to Salmonella, Neospora caninum and Leptospira interrogans serovar hardjo in extensively managed unvaccinated dairy herds. A previous study documented a herd-level seroprevalence in bulk milk of 49%, 19% and 86% for Salmonella, Neospora caninum and leptospira interrogans serovar hardjo, respectively in the unvaccinated proportion of these 309 herds in 2009. Association analyses in the present study were carried out using multiple logistic regression models. Herds where cattle were purchased or introduced had a greater likelihood of being positive to leptospira interrogans serovar hardjo (P<0.01) and Salmonella (P<0.01). Larger herds had a greater likelihood of recording a positive bulk milk antibody result to leptospira interrogans serovar hardjo (P<0.05). Herds that practiced year round calving were more likely to be positive to Neospora caninum (P<0.05) compared to herds with a spring-calving season, with no difference in risk between herds that practiced split calving compared to herds that practiced spring calving. No association was found between presence of dogs on farms and prevalence of Neospora caninum possibly due to limited access of dogs to infected materials including afterbirths. The information from this study will assist in the design of suitable control programmes for the diseases under investigation in pasture-based livestock systems.


Asunto(s)
Aborto Veterinario/microbiología , Enfermedades de los Bovinos/microbiología , Leptospira interrogans/aislamiento & purificación , Leche/microbiología , Neospora/aislamiento & purificación , Salmonella/aislamiento & purificación , Aborto Veterinario/epidemiología , Animales , Anticuerpos Antibacterianos/sangre , Bovinos , Enfermedades de los Bovinos/epidemiología , Perros , Femenino , Irlanda/epidemiología , Modelos Logísticos , Masculino , Neospora/clasificación , Embarazo , Factores de Riesgo , Encuestas y Cuestionarios
11.
J Public Health (Oxf) ; 36(3): 504-10, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24097191

RESUMEN

BACKGROUND: An ageing population leads to increasing prevalence of age-related chronic conditions that present challenges to the health-care services. Despite this, in countries including Ireland, little is known about the health-care impact of conditions such as osteoarthritis or rheumatoid arthritis amongst older adults. METHODS: A series of count models are developed to investigate the incremental health-care usage of individuals with either osteoarthritis or rheumatoid arthritis on the use of general practitioners (GP) services, outpatients' services, accident and emergency visits and inpatient nights. RESULTS: Both types of arthritic conditions lead to increased usage of GP and outpatients' services but not other hospital services. Differences in entitlements to care, as captured by the presence of a medical card in Ireland, lead to different health-care usage among arthritis sufferers. Translating the additional utilization into cost suggests a combined incremental annual cost of both types of arthritis of €13.6 million. CONCLUSIONS: Osteoarthritis and rheumatoid arthritis present challenges to health-care services in the context of an ageing population. In the case of Ireland the burden falls predominantly on primary health-care and outpatient services. Within the context of changing health-care service provision in Ireland, the results of this study have implications for future planning of service delivery.


Asunto(s)
Artritis Reumatoide/terapia , Atención a la Salud/estadística & datos numéricos , Osteoartritis/terapia , Factores de Edad , Anciano , Anciano de 80 o más Años , Artritis Reumatoide/economía , Femenino , Costos de la Atención en Salud/estadística & datos numéricos , Humanos , Irlanda/epidemiología , Masculino , Persona de Mediana Edad , Osteoartritis/economía
12.
Ir J Med Sci ; 182(4): 595-9, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23463034

RESUMEN

BACKGROUND: Stress and burnout are common among doctors. Excess levels of stress have been shown to have detrimental personal and professional effects as well as a negative influence on patient care. AIM: The aim of our pilot study was to assess the levels of burnout among a cohort of interns. METHODS: A voluntary written self-assessment of burnout levels was distributed to interns in two teaching hospitals. The Maslach Burnout inventory is a 22-question survey assessing the three components of the burnout syndrome-emotional exhaustion (EE), depersonalisation (DP) and personal achievement (PA). RESULTS: Twenty-seven surveys were distributed to interns in two hospitals with a 96.3 % (n = 26) response rate. The mean age was 25.1 years (range 24-31 years). 14 were medical interns, 12 were surgical interns at the time of completion. Overall, the mean EE score was 23.4 (range 11-29), representing moderate levels of EE. The mean DP score was 9.4 (range 4-14), representing moderate levels of DP. The mean PA score was 18.9 (range 12-29), representing high levels of PA. There were no significant differences noted between levels of EE, DP or PA among male or female interns, medical or surgical interns or those who worked in a peripheral or university hospital. CONCLUSION: Burnout is reported among interns in our pilot study. Measures need to be taken to heighten awareness of burnout among doctors and to educate physicians regarding self-awareness and personal health.


Asunto(s)
Agotamiento Profesional/psicología , Despersonalización , Emociones , Satisfacción en el Trabajo , Cuerpo Médico de Hospitales/psicología , Adulto , Actitud del Personal de Salud , Estudios Transversales , Femenino , Conocimientos, Actitudes y Práctica en Salud , Encuestas Epidemiológicas , Hospitales de Enseñanza , Humanos , Irlanda , Masculino , Proyectos Piloto , Factores de Riesgo , Autoimagen , Estrés Psicológico/etiología , Encuestas y Cuestionarios , Carga de Trabajo/psicología , Adulto Joven
13.
Prev Vet Med ; 109(3-4): 343-8, 2013 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-23117041

RESUMEN

Bulk milk samples were collected from 309 Irish dairy herds at four time points during 2009 and tested for antibodies to Salmonella spp., N. caninum, and L. hardjo, three abortifacient agents in Irish dairy herds. Of the 312 study herds, 49% vaccinated against Salmonella and 76% vaccinated against L. hardjo. In unvaccinated herds, the overall prevalence of antibody positive herds was 49% for Salmonella, 19% for N. caninum and 86% for L. hardjo. There was no association between both testing positive for and incidence of Salmonella or L. hardjo on sample date and calving season. A significant association was found between sample date and both testing positive for [p=<0.0001 OR=2.41 (95% CI 1.54-3.80)] and incidence [p=0.001 OR=3.10 (95% CI 1.72-5.57)] of N. caninum. No association with region of Ireland was found for either testing positive for or incidence of N. caninum, or L. hardjo. There was however a tendency towards a higher incidence of Salmonella in regions of Ireland with higher cattle densities.


Asunto(s)
Enfermedades de los Bovinos/microbiología , Enfermedades de los Bovinos/parasitología , Leptospira interrogans/aislamiento & purificación , Leche/inmunología , Neospora/aislamiento & purificación , Salmonella/aislamiento & purificación , Animales , Anticuerpos Antibacterianos/análisis , Anticuerpos Antiprotozoarios/análisis , Bovinos , Enfermedades de los Bovinos/epidemiología , Coccidiosis/epidemiología , Coccidiosis/parasitología , Coccidiosis/veterinaria , Femenino , Irlanda/epidemiología , Modelos Logísticos , Leche/microbiología , Leche/parasitología , Infecciones por Salmonella/epidemiología , Infecciones por Salmonella/microbiología , Estaciones del Año , Estudios Seroepidemiológicos
14.
Ir J Med Sci ; 180(1): 215-20, 2011 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20878499

RESUMEN

BACKGROUND: Non-technical skills are relevant to surgical performance but are difficult to quantify. The aim of this study was to investigate the relationship between self-efficacy, which is a measure of stress-coping ability, and surgical performance. METHODS: Two hundred and sixteen basic surgical trainees were assessed on their performance of three bench model-type open and laparoscopic surgical tasks. They also completed a 10-item General Self-Efficacy (GSE) questionnaire to assess their stress-coping abilities. Their assessment scores were correlated with the GSE scores. RESULTS: The mean GSE score of 31.39 was higher than the recorded population norms. There was no significant correlation between GSE and surgical performance for open or laparoscopic tasks. CONCLUSION: Junior surgical trainees have high self-belief scores, but these abilities are difficult to measure and quantify. More refined methods may be necessary to measure non-technical skills relevant to surgery.


Asunto(s)
Adaptación Psicológica , Laparoscopía , Autoeficacia , Adulto , Femenino , Humanos , Masculino , Psicometría , Estrés Psicológico , Encuestas y Cuestionarios , Adulto Joven
15.
Genet Mol Res ; 9(3): 1815-23, 2010 Sep 14.
Artículo en Inglés | MEDLINE | ID: mdl-20845307

RESUMEN

Sex reversal due to duplication of the Xp21 dosage-sensitive sex reversal locus results in XY females with gonadal dysgenesis. Pure Xp disomy (without a concurrent loss of genetic material) can occur by translocation or interstitial duplication. The case reported here is the rare form with a t(Xp;Yp). The combination of conventional clinical cytogenetic techniques, microsatellite analysis and high-density microarrays identified the X-chromosome breakpoint as centromeric of the NR0B1 gene and its control elements. Cytogenetics and array technology complemented each other in characterizing the translocation event and the extent of the dosage-sensitive sex reversal critical region on the derivative Y-chromosome. The implications of this analysis also lie in genetic counseling that highlight the likely de novo nature of a paternal meiotic event.


Asunto(s)
Cromosomas Humanos X/genética , Cromosomas Humanos Y/genética , Trastornos del Desarrollo Sexual , Preescolar , Femenino , Humanos , Cariotipificación
16.
Acta Paediatr ; 99(5): 784-786, 2010 May.
Artículo en Inglés | MEDLINE | ID: mdl-20105145

RESUMEN

UNLABELLED: 13q deletion is a rare cause of ambiguous genitalia in the male newborn, and can be associated with mental retardation of varying degree, retinoblastoma, and malformations of the brain, eye, genitourinary and gastrointestinal tract, depending on the level of the deletion. We present a male neonate with ambiguous genitalia and IUGR with a 13q33.2 deletion, and a paternal balanced translocation. Microarray analysis found the genes involved to be on chromosome 13 in the region 102989254bp-109214509bp. This deletion encompasses the EFNB2 gene, which has been implicated in genital malformations in 13q deletion cases. CONCLUSIONS: We find a link between haploinsufficiency of the EFNB2 gene and the presence of ambiguous genitalia and hypospadia in patients with a 13q.33 deletion. This work emphasizes the importance of early diagnosis of this condition due to the link with mental retardation and the need for follow up and management.


Asunto(s)
Anomalías Múltiples/genética , Deleción Cromosómica , Cromosomas Humanos Par 13 , Retardo del Crecimiento Fetal/genética , Genitales Masculinos/anomalías , Discapacidad Intelectual/genética , Mapeo Cromosómico , Anomalías Congénitas/genética , Humanos , Recién Nacido , Cariotipificación , Masculino , Análisis por Micromatrices , Translocación Genética
17.
Anim Reprod Sci ; 101(1-2): 153-7, 2007 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-17204381

RESUMEN

The identification of an association between polymorphisms of the prion protein (PrP) gene and susceptibility to scrapie has enabled the development of breeding programmes to increase natural resistance to scrapie. It is, however, imperative to identify if such selection would affect important reproduction and production traits. The objective of this study was to determine if there is a relationship between polymorphisms at codons 136, 154 and 171 of the PrP gene and ovulation rate or litter size in sheep. Data were collected from a mixed-aged flock of Belclare ewes, over a 9-year period. Ovulation rate was determined annually using laparoscopy by counting the number of corpora lutea at each of two consecutive oestrous cycles, one immediately before and one after mating (2418 records from 366 ewes). Litter size was recorded at parturition (875 records from 353 ewes). The five common PrP alleles were present in the population and 14 PrP genotypes were represented among the animals studied. There was no significant overall effect of PrP genotype on ovulation rate or litter size and pairwise comparisons among genotypes did not reveal any significant differences for either trait. These data suggest that breeding programmes based on selection for specific polymorphisms of the PrP gene will not influence ovulation rate or litter size, at least in the breed studied.


Asunto(s)
Tamaño de la Camada , Ovulación/genética , Proteínas PrPSc/genética , Ovinos/fisiología , Animales , Femenino , Frecuencia de los Genes , Genotipo , Polimorfismo Genético , Embarazo
18.
Meat Sci ; 75(4): 551-7, 2007 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22064018

RESUMEN

The objective of this study was to determine if there is an association between tenderness in bovine M. longisimus dorsi (LD) and polymorphisms in the bovine calpain I (exons 9 & 14), calpain II (regulatory subunit) or growth hormone (intron 3) genes. Genomic DNA was isolated from bovine LD (n=281) on which quality attributes (Warner Bratzler shear force (WBSF), sarcomere length and composition) were also characterised. DNA polymorphisms were analysed using polymerase chain reaction (PCR) and restriction fragment length polymorphism analysis. Association analyses were performed between genotypes at the four polymorphic loci and day 14 WBSF values. It was found that the calpain 1 exon 9 genotypes had an association with WBSF such that animals with the GA genotype exhibited decreased WBSF and increased tenderness when compared to animals with the GG genotype (P<0.05). This observation concurs with that of earlier studies, suggesting that this polymorphism is a functional marker for beef tenderness.

19.
J Obstet Gynaecol ; 26(8): 791-4, 2006 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-17130033

RESUMEN

We evaluated prospectively, compliance with the Royal College of Obstetricians and Gynaecologists (RCOG) guidelines on termination of pregnancy (TOP) in a cohort of 340 women referred for termination of pregnancy in 2003 at South Tyneside Foundation Trust. The number of referrals represented one-fifth of all births in our unit during the study period. Teenagers were the largest single group of women requesting termination of pregnancy and the majority were nulliparous. There were 85 women who were seeking a repeat termination of pregnancy. The RCOG minimum referral standard was met in 80% of cases. A good number of women were unsure of their menstrual dates and only 5% had used emergency contraception. A total of 96% were either not using contraception, using condoms or taking oral contraceptives irregularly. A total of 50% of the women attended hospital without a Certificate A being completed by the referring practitioner. Surgical termination was preferred over medical termination in the cohort of women who could exercise a choice. It is possible to comply with the RCOG Termination of Pregnancy guidelines to a large extent in a District General Hospital, with some innovation. Close liaison between General Practitioners, Family Planning Clinics and Acute Hospitals is required. The adoption of agreed referral requirements and pathways would help in the delivery of a high quality service as advocated by the guideline.


Asunto(s)
Aborto Inducido/estadística & datos numéricos , Solicitantes de Aborto , Adolescente , Adulto , Femenino , Humanos , Guías de Práctica Clínica como Asunto , Embarazo , Reino Unido
20.
Int J Clin Pract Suppl ; (147): 3-5, 2005 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-15875607

RESUMEN

Ezetimibe is intestinally active cholesterol absorption inhibitor used to reduce low-density lipoprotein-cholesterol levels. This case report describes a novel side effect with this agent: ezetimibe-induced hyperlipidaemia in a patient with statin intolerance and familial combined hyperlipidaemia. Ezetimibe therapy induced an asymptomatic 770% increase in triglycerides (TGs) (3.51-27.1 mmol/l) and a 190% increase in total cholesterol (9.8-18.5 mmol/ 1) secondary to an increase (4.6-25.9 micromol/l; 560%) in hepatic cholesterol (lathosterol) synthesis. This lipid profile resolved 9 months after cessation of ezetimibe therapy. This report shows that ezetimibe may have long-lasting effects in man far exceeding its plasma half-life and that ezetimibe monotherapy can induce a large increase in hepatocyte very-low-density lipoprotein synthesis in rare individuals with a consequent mixed hyperlipidaemia or possibly hypercholesterolaemia depending on the metabolism and clearance of TG-rich lipoproteins.


Asunto(s)
Anticolesterolemiantes/efectos adversos , Azetidinas/efectos adversos , Hiperlipidemias/inducido químicamente , Colesterol/sangre , Ezetimiba , Femenino , Humanos , Hiperlipidemia Familiar Combinada/sangre , Hiperlipidemia Familiar Combinada/tratamiento farmacológico , Persona de Mediana Edad , Triglicéridos/sangre
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