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1.
Fam Cancer ; 22(2): 135-149, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36029389

RESUMO

In the Republic of Ireland (ROI), BRCA1/BRCA2 genetic testing has been traditionally undertaken in eligible individuals, after pre-test counselling by a Clinical Geneticist/Genetic Counsellor. Clinical Genetics services in ROI are poorly resourced, with routine waiting times for appointments at the time of this pilot often extending beyond a year. The consequent prolonged waiting times are unacceptable where therapeutic decision-making depends on the patient's BRCA status. "Mainstreaming" BRCA1/BRCA2 testing through routine oncology/surgical clinics has been implemented successfully in other centres in the UK and internationally. We aimed to pilot this pathway in three Irish tertiary centres. A service evaluation project was undertaken over a 6-month period between January and July 2017. Eligible patients, fulfilling pathology and age-based inclusion criteria defined by TGL clinical, were identified, and offered constitutional BRCA1/BRCA2 testing after pre-test counselling by treating clinicians. Tests were undertaken by TGL Clinical. Results were returned to clinicians by secure email. Onward referrals of patients with uncertain/pathogenic results, or suspicious family histories, to Clinical Genetics were made by the treating team. Surveys assessing patient and clinician satisfaction were sent to participating clinicians and a sample of participating patients. Data was collected with respect to diagnostic yield, turnaround time, onward referral rates, and patient and clinician feedback. A total of 101  patients underwent diagnostic germline BRCA1/BRCA2 tests through this pathway. Pathogenic variants were identified in 12 patients (12%). All patients in whom variants were identified were appropriately referred to Clinical Genetics. At least 12 additional patients with uninformative BRCA1/BRCA2 tests were also referred for formal assessment by Clinical Geneticist or Genetic Counsellor. Issues were noted in terms of time pressures and communication of results to patients. Results from a representative sample of participants completing the satisfaction survey indicated that the pathway was acceptable to patients and clinicians. Mainstreaming of constitutional BRCA1/BRCA2 testing guided by age- and pathology-based criteria is potentially feasible for patients with breast cancer as well as patients with ovarian cancer in Ireland.


Assuntos
Neoplasias da Mama , Neoplasias Ovarianas , Humanos , Feminino , Testes Genéticos , Projetos Piloto , Irlanda , Estudos de Viabilidade , Proteína BRCA2/genética , Proteína BRCA1/genética , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/genética , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Predisposição Genética para Doença , Mutação em Linhagem Germinativa
2.
Eur J Contracept Reprod Health Care ; 17(1): 50-4, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22200126

RESUMO

OBJECTIVE: To determine whether adolescents who present at a sexual health service aged 13 have more sexual health problems in later years than those who present aged 15. METHODS: A case-note review was done in 2009 to identify sexual health problems for all 13-year-olds who registered with Sandyford sexual health service from April 2003 until December 2004 (group 1). This was compared with selected notes from adolescents who were 15 years old at the time of registration (group 2). RESULTS: Eighty-eight youths aged 13 and 632 aged 15 registered in the aforementioned period. Ninety records of 15-year-olds were selected for comparison. Twenty two of the 86 girls in group 1 and 31 of the 87 girls in group 2 had at least one pregnancy. Twenty-one adolescents in group 1 and 25 of those in group 2 had a sexually transmitted infection. Thirteen youths in group 1 and one in group 2 had suffered a sexual assault. CONCLUSION: Adolescents aged 13 at first registration with this service have more sexual health problems and warrant additional support throughout their teenage years. A very young age at first registration should prompt health professionals to provide additional clinical, emotional and social support.


Assuntos
Conhecimentos, Atitudes e Prática em Saúde , Gravidez na Adolescência/estatística & dados numéricos , Comportamento Sexual , Infecções Sexualmente Transmissíveis/epidemiologia , Adolescente , Serviços de Saúde Comunitária , Feminino , Humanos , Gravidez , Adulto Jovem
3.
J Med Virol ; 83(11): 1983-7, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21915874

RESUMO

HPV surveillance is necessary to monitor the impact and success of HPV immunization programs. This study was designed to evaluate the performance of HPV testing in urine to assess its suitability for epidemiological and surveillance purposes. A total of 90 females and 117 males were recruited from a UK drop-in clinic offering integrated sexual health services. A urine sample and comparator gold-standard sample (cervical liquid-based cytology sample or penile swab) was collected from each subject. HPV detection was performed using a PCR-based assay. Discrepancy between the two overall distributions [urine vs. gold standard (GS)] was measured. At the individual level, sensitivity and specificity of HPV detection in urine versus GS was measured. Prevalence of HPV was higher in urine compared to GS in both females and males. At the individual level, sensitivity of urine versus GS for HPV detection was 90.5% (79.3-96.9) and 55.9% (37.8-72.8) in females and males, respectively. The overall distribution of HPV types in urine was similar to that in gold standard, (P = 0.78; male, P = 0.88; female). Type-specific matches in urine versus GS were achieved in 71% (61-79.5) and 63.2% (54.2-71.4) of samples from females and males, respectively. Urine, particularly from females, is a useful biospecimen for HPV surveillance purposes. Further examination into the usefulness of urine from males, including choice of relevant gold-standard comparator, is required.


Assuntos
Papillomaviridae/isolamento & purificação , Infecções por Papillomavirus/diagnóstico , Infecções por Papillomavirus/prevenção & controle , Vacinas contra Papillomavirus/imunologia , Vigilância da População/métodos , Urina/virologia , Virologia/métodos , Adolescente , Adulto , Feminino , Humanos , Programas de Imunização , Masculino , Vacinas contra Papillomavirus/administração & dosagem , Reação em Cadeia da Polimerase/métodos , Sensibilidade e Especificidade , Reino Unido , Adulto Jovem
6.
J Fam Plann Reprod Health Care ; 32(2): 95-9, 2006 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16824299

RESUMO

BACKGROUND: Clinical staff offering sexual health services to young people need to balance the rights of the young person to confidentiality and good quality advice with the need to protect their wider interests. The needs of young clients may be complex and raise ethical and medico-legal questions for the staff involved in their care. METHODS: In our large, integrated sexual health service, a 'recording form' was introduced to prompt staff to record data systematically pertinent to consultations in clients under 16 years of age, to understand what kind of presentations dominate in these consultations, and to establish how common child protection concerns are. RESULTS: From April to October 2004, more than 500 forms were completed in our service. The age range for female clients was 12-15 years, with the median age of first sexual intercourse 14 years. Most respondents were in consensual relationships with partners of around their own age, but 10% had been in relationships of less than a week's duration. Most had not told their parents of their sexual activity and did not intend to. Child protection issues did occur, although not commonly. CONCLUSIONS: Most clients initially present requesting emergency contraception or pregnancy testing, and the inference is that unprotected sexual intercourse is common in this group of clients before they seek our services. The data collected give a valuable overview of the type of issues dealt with in the clinical context and can help to target training and teaching, in addition to potentially highlighting child protection issues.


Assuntos
Serviços de Saúde do Adolescente/organização & administração , Confidencialidade , Serviços de Planejamento Familiar/organização & administração , Controle de Formulários e Registros , Encaminhamento e Consulta , Comportamento Sexual , Adolescente , Fatores Etários , Criança , Feminino , Necessidades e Demandas de Serviços de Saúde , Humanos , Masculino , Anamnese , Escócia , Educação Sexual
7.
Eur J Contracept Reprod Health Care ; 12(3): 253-9, 2007 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-17763264

RESUMO

OBJECTIVE: To determine if long-term users of depot medroxyprogesterone acetate injectable contraception (DMPA) were more likely than their peers to have low bone density. DESIGN: Cross-sectional observational study. SETTING: The Domiciliary Family Planning Service, Glasgow, Scotland. SUBJECTS: Clients of the Domiciliary Service who had used DMPA for contraception for longer than 5 years (mean 12 years) were invited to participate and select their own control, a friend or relative who had never used this method of contraception. MAIN OUTCOME MEASURES: Bone density measured at the hip and lumbar spine by dual X-ray absorptiometry (DXA). RESULTS: DMPA users had a significantly lower bone density than controls, 12-13% less at both hip and lumbar spine. This difference remained even when controlling for parity, smoking, family history of kyphosis or hip fracture, and body mass index. CONCLUSIONS: DMPA significantly decreases bone density in a group of long-term users with significant social deprivation. The long-term significance of this remains uncertain.


Assuntos
Densidade Óssea/efeitos dos fármacos , Anticoncepcionais Femininos/efeitos adversos , Acetato de Medroxiprogesterona/efeitos adversos , Absorciometria de Fóton , Adulto , Análise de Variância , Índice de Massa Corporal , Estudos de Casos e Controles , Anticoncepcionais Femininos/farmacologia , Estudos Transversais , Preparações de Ação Retardada , Estradiol/sangue , Serviços de Planejamento Familiar , Feminino , Colo do Fêmur/diagnóstico por imagem , Colo do Fêmur/efeitos dos fármacos , Humanos , Modelos Lineares , Vértebras Lombares/diagnóstico por imagem , Vértebras Lombares/efeitos dos fármacos , Acetato de Medroxiprogesterona/farmacologia , Pessoa de Meia-Idade , Observação , Osteopetrose/induzido quimicamente , Áreas de Pobreza , Escócia , Saúde da População Urbana , População Branca
8.
Eur J Contracept Reprod Health Care ; 10(4): 235-43, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-16448950

RESUMO

OBJECTIVES: To assess young people's recall of school-based sexual health education. METHODS: Clients attending The Place, an open-access sexual health service for young people, were asked to recall whether they had received teaching on key areas of sex education outlined in the Scottish Executive's draft Sexual Health and Relationship Strategy and Greater Glasgow NHS Board's guidelines for sex education in schools.Their responses were analyzed by age, sex, and type of school attended. RESULTS: Although most could remember receiving some teaching about risks of sexual activity, there was little recall of teaching in positive areas of sexual health, such as having good relationships, rights and responsibilities, and being good parents. CONCLUSIONS: Further research is needed to establish why recall of taught sex education is low in this group of clients, and how to improve retention of important sexual education information.


Assuntos
Serviços de Saúde do Adolescente , Educação Sexual , Ensino , Adolescente , Inquéritos Epidemiológicos , Humanos , Rememoração Mental , Instituições Acadêmicas , Escócia , Inquéritos e Questionários , Ensino/métodos
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