A Comprehensive Overview of Common Polymorphic Variants in Genes Related to Polycystic Ovary Syndrome.

Polycystic ovary syndrome (PCOS) is one of the most common endocrine-metabolic disorders in women of reproductive age. It is characterized by an increase in the biosynthesis of androgens, anovulation, and infertility. PCOS has been reported as a polygenic entity in which multiple single nucleotide polymorphisms (SNPs) are associated with the clinical features of the pathology. Herein, we describe the common polymorphic variants in genes related to PCOS, their role in its pathogenesis, and etiology. Whole-genome association studies have been focused on women from Asian and European populations. The most common genes associated with PCOS are DENND1A, THADA, FSHR, and LHCGR. However, other genes have been associated with PCOS such as AMH, AMHR2, ADIPOQ, FTO, HNF1A, CYP19, YAP1, HMGA2, RAB5B, SUOX, INSR, and TOX3. Nevertheless, the relationship between the biological functions of these genes and the development of the pathology is unclear. Studies in each gene in different populations do not always comply with a general pattern, so researching these variants is essential for better understanding of this polygenic syndrome. Future population studies should be carried out to evaluate biological processes, incidence rates, allelic and genotypic frequencies, and genetic susceptibility factors that predispose PCOS.

We are all patient-centred now, aren't we? Lessons from new pharmacy graduates.

INTRODUCTION: Patient-centredness is considered integral to the delivery of modern healthcare. This qualitative, longitudinal study explored the meaning and development of the practice of pharmacy graduates, leading to a focus on patient-centredness. The approach adopted in this study aligned with the principles of hermeneutic phenomenology. METHODS: Twelve pharmacy graduates (seven females) from The University of Queensland were observed at work and interviewed about their experiences of pharmacy practice every six months for two years following graduation. RESULTS: These 12 graduates initially understood and enacted pharmacy practice in a range of ways. A distinguishing characteristic related to how patients/customers featured in their practice. For some, ensuring the efficient supply or administration of correct and safe medicines with instructions was the focus, with patients viewed as source and recipient of information. For others, the focus was communicating effectively with patients/customers to provide individualised advice to avoid medication-related problems. A third group focused on achieving a broader goal, to provide individualised care to optimise health outcomes from medicines. Initial understanding of patient-centredness remained largely unchanged for most participants over the two years, despite the passage of time and experience gained. CONCLUSIONS: This study calls into question an assumption of a common meaning for patient-centredness. The findings highlight the need to question and debate what patient-centredness means in contemporary pharmacy practice, rather than simply being an aspirational or theoretical concept. It is important that pharmacists and educators appreciate the centrality of understanding of practice for development, to optimally facilitate the development of patient-centred pharmacists.

Eficiencia en la prescripción de medicamentos: impacto de un programa de intercambio terapéutico / The efficiency of drug prescription: impact of a therapeutic exchange program

Objetivo Evaluar el impacto de un programa de intercambio terapéutico a omeprazol de los inhibidores de la bomba de protones (IBP).Método Ensayo comunitario que compara el impacto de un programa de intercambio terapéutico en los equipos de atención primaria de una comarca respecto a la no aplicación en una comarca control. Se incluyó a los pacientes con prescripción de un IBP entre mayo de 2008 y junio de 2009. La intervención consistió en sesiones educativas y facilitar a cada médico (n=68) los pacientes con un IBP que pudiera cambiarse a omeprazol. Se obtuvo información de la historia clínica (IBP prescrito, equipo de atención primaria) y de la aplicación de farmacia (coste de la dosis diaria definida de los IBP). A partir del riesgo relativo (RR) se comparó el porcentaje de intercambio terapéutico en cada comarca antes y después de la intervención. También se calculó el porcentaje de omeprazol al final de cada periodo de estudio y los cambios en los costes en IBP. Resultados Hubo más intercambios terapéuticos en el grupo de intervención (RR: 4,2; intervalo de confianza del 95% [IC95%]:3,1-5,8) respecto al control (RR: 1,8; IC95%:1,2-2,6). En el grupo de intervención, el porcentaje de pacientes con omeprazol pasó del 86,2% al 89,3%, y en el control del 84,3% al 84,7%. El coste del grupo IBP disminuyó un 7,6% en el grupo de intervención y aumentó un 2,0% en el control. Conclusiones El programa de intercambio terapéutico se ha mostrado efectivo. Se trata de una intervención sencilla, capaz de modificar las prescripciones y reducir sus costes (AU)

Objective To assess the impact of substituting proton pump inhibitors (PPI) for omeprazole. Method We performed a community trial of the impact of a therapeutic exchange program in the primary care teams of a region compared with non-implementation in a control region. The study included patients prescribed a PPI between May 2008 and June 2009. The intervention consisted of providing educational sessions to physicians (n=68), as well as a list of patients receiving a PPI who were suitable for therapeutic exchange. Information was gathered from medical records (PPI prescribed, primary care team) and the pharmacy database (cost of defined daily doses of the PPI). The percentage of therapeutic exchange in each region before and after the intervention was compared through relative risk (RR). The percentage of omeprazole at the end of each study period and changes in PPI costs were also calculated. Results Therapeutic exchange was higher in the intervention group (RR: 4.2; 95%CI: 3.1-5.8) than in the control group (RR: 1.8; 95%CI: 1.2-2.6). The percentage of patients prescribed omeprazole increased from 86.2% to 89.3% in the intervention region and from 84.3% to 84.7% in the control region. The total cost of the PPI group decreased by 7.6% in the intervention region and increased by 2.0% in the control group. Conclusions This study demonstrates the effectiveness of the therapeutic exchange program. This is a simple intervention that is able to modify prescription and reduce its costs (AU)

[The efficiency of drug prescription: impact of a therapeutic exchange program]. / Eficiencia en la prescripción de medicamentos: impacto de un programa de intercambio terapéutico.

OBJECTIVE: To assess the impact of substituting proton pump inhibitors (PPI) for omeprazole. METHOD: We performed a community trial of the impact of a therapeutic exchange program in the primary care teams of a region compared with non-implementation in a control region. The study included patients prescribed a PPI between May 2008 and June 2009. The intervention consisted of providing educational sessions to physicians (n=68), as well as a list of patients receiving a PPI who were suitable for therapeutic exchange. Information was gathered from medical records (PPI prescribed, primary care team) and the pharmacy database (cost of defined daily doses of the PPI). The percentage of therapeutic exchange in each region before and after the intervention was compared through relative risk (RR). The percentage of omeprazole at the end of each study period and changes in PPI costs were also calculated. RESULTS: Therapeutic exchange was higher in the intervention group (RR: 4.2; 95%CI: 3.1-5.8) than in the control group (RR: 1.8; 95%CI: 1.2-2.6). The percentage of patients prescribed omeprazole increased from 86.2% to 89.3% in the intervention region and from 84.3% to 84.7% in the control region. The total cost of the PPI group decreased by 7.6% in the intervention region and increased by 2.0% in the control group. CONCLUSIONS: This study demonstrates the effectiveness of the therapeutic exchange program. This is a simple intervention that is able to modify prescription and reduce its costs.

Impact of curriculum on understanding of professional practice: a longitudinal study of students commencing dental education.

This longitudinal study examines changes in understanding of dental practice among a cohort of students in the early years of a dentistry programme. In their first two professional years, we identified five distinct understandings of dental practice that we have ordered from least to most comprehensive: relieving pain or generally caring for teeth, carrying out particular dental procedures, diagnosing and treating dental problems or diseases, evaluating and responding to oral health, and finally, evaluating oral health and preventing oral disease in the community. At entry into the dental program the most common understandings among both men and women focused on dental procedures or diagnosis and treatment. The largest changes in students' responses at the end of the first and second professional years were generally in line with the emphasis of the curriculum in each of these 2 years, although prevention was not clearly featured. These data suggest that at least some students responded to the curriculum and, hence, highlight the impact of the curriculum on students' emerging understandings. We conclude that curricula can have a key role in the development of understanding of professional practice during professional programmes, although the impact of curricula is not always as expected and merits investigation.

'Carer and gatekeeper' - conflicting demands in nurses' experiences of telephone advisory services.

'Carer and gatekeeper' - conflicting demands in nurses' experiences of telephone advisory services Millions of calls are made to the telephone advisory services in primary health care in Sweden. The patients seem happy with the advice and counselling they receive, but little has been written about nurses' experiences of performing telephone advisory services. Yet, the nurses are expected to be patient, sensitive and have a broad knowledge of medicine, nursing and pedagogy. The aim of this study was to describe how nurses experience the patient encounter when performing telephone advisory services. A strategic sample of five nurses were interviewed and asked to describe how they experienced the central aspects of the patient encounter by telephone. The transcribed interviews were analysed by the Empirical Phenomenological Psychological method. The nurses' experience of the patient encounter when performing telephone advisory services can be characterized in terms of the conflicting demands of being both carer and gatekeeper. The constituents of these conflicting demands were: reading between the lines while pressed for time; educating patients for self-care while fearful of misinterpreting the situation; encountering patients' satisfaction and dissatisfaction. The conflicting demands of being both professional carer and gatekeeper caused stress among the nurses. The organization of the telephone advisory services seems to hinder high-quality care.

Understanding medical practice: different outcomes of a pre-medical program.

This qualitative research study addresses the issue of how effective pre-medical programs are in preparing students for medical practice. Students nearing completion of a pre-medical program were interviewed and observed when consulting with patients in teaching hospitals, with the focus on how they understood and carried out medical practice. The study highlights significant differences in the outcome of the pre-medical program with respect to students' understanding of medical practice. Case studies are used to illustrate these differences. The results demonstrate that reaching a diagnosis and having a firm base in knowledge about symptoms and sicknesses are important to the students' understanding of medical practice. However, there are differences in the emphasis given to these issues and, more particularly, in the extent to which other aspects are taken into account. The students' understanding of medical practice range from something the doctor does to the patient's body to contributing to the person's health and life quality through cooperation and mutual respect. Implications for medical education arising from the study are addressed, underlining the need for a clear and explicit focus on developing students' understanding of medical practice throughout the pre-medical program.

Hepatitis C. Tratamiento con Interferón y ribavirina en pacientes con trastornos tiroideos / Hepatitis C. Treatment with interferon and ribavirin in patients with thyroid disorders

La hepatitis C es un problema importante de salud en todo el mundo, existen alrededor de 150 millones de sujetos que la padecen. En 85 por ciento de los casos transcurre como hepatitis crónica con daño hepático lento pero progresivo, 35 por ciento sufre cirrosis hepática y 15 por ciento, hepatocarcinoma. Se presenta el caso de tres pacientes del sexo femenino con hepatitis C, que previamente padecían disfunción tiroidea (dos con hipotiroidismo y una con hipertiroidismo) atendidas en el Hospital de ISSSTECALI de Tijuana, Baja California. Las pacientes recibieron tratamiento antiviral (interferón + ribavirina) con duración de un año. Se realizaron pruebas de función hepática, biometría hemática, plaquetas, y se puso especial atención a las pruebas de función tiroidea, ya que se sabe que el interferón induce anormalidades en ésta. A las seis semanas de iniciado el tratamiento antiviral la paciente con hipertiroidismo sufrió descontrol de la función tiroidea; sin embargo, al ajustar su tratamiento antitiroideo se logró compensar y de esta manera completar el tratamiento antiviral durante un año. Por otro lado, a la octava semana de terapéutica fue necesario aumentar el tratamiento sustitutivo por descompensación en una de las pacientes con hipotiroidismo, quien también logró completar el tratamiento antiviral durante un año. Las tres pacientes respondieron al tratamiento antiviral combinado con ausencia del RNA viral desde los seis meses de tratamiento, así como al finalizar el año; por otro lado, las enzimas hepáticas también se normalizaron desde el cuarto mes de tratamiento.

Medical Practice as Characterised by Beginning Medical Students.

What does medical practice mean to students entering undergraduate medical education? What do these students see as central to the work of a medical doctor? What do they regard as difficult challenges they are likely to face in medical practice? What implications do their perspectives on these questions have for medical education?In the qualitative research study reported in this article, students beginning undergraduate medical education characterised medical practice in a variety of ways. In brief, they characterised medical practice as: (a) helping or saving; (b) diagnosing or treating using required procedures; (c) locating the problem and informing the patient; (d) while diagnosing and treating, interacting in a supportive way; (e) seeking a way forward together; or (f) enabling the patient to better deal with his or her life situation. Some differences based on gender and method of admission to medical education are noted.Implications for medical education include the need to address: variation in characterising medical practice; ways in which medical knowledge and medical care are viewed; non-biomedical aspects as mainstream in the medical curriculum; concerns about difficult human encounters in medical practice; and development of professional identity.