Violence, Abuse and Neglect in Older Women in Rural and Remote Areas: A Scoping Review and Prevalence Meta-Analysis.

This systematic review addressed the issue of the abuse and neglect of older women (age 60 and over) in rural and remote areas, examining these phenomena's prevalence, risk and protective factors, consequences, and associated perceptions. Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and the Arksey and O'Malley methodological framework, peer-reviewed articles published until September 2023 were identified in six electronic databases. Out of the manuscripts initially identified (n = 219), 28 articles met the selection criteria. The study's quality was assessed using the Mixed Methods Appraisal Tool. The included studies provided a comprehensive overview of this phenomenon, encompassing data from 6,579 older rural women. Prevalence rates of abuse and neglect exhibited wide variability, with an average of 27.3%. Among the risk factors, financial dependence and incapacity stood out, while higher income and education levels were protective factors, among others. Emotional/psychological abuse emerged as the most common form, with significant impacts on older women's physical and mental health. Cultural norms and gender expectations also influenced perceptions of abuse and victims' coping mechanisms. In a context in which access to specialized resources and services is hampered by significant limitations, community awareness and education prove vital to address this issue, which positions social work as key to addressing these challenges. The prevalence of abuse against older rural women is significant. Emotional abuse stands out as a major issue, underscoring the need for comprehensive interventions accounting for cultural and gender factors.

Professional development and academic satisfaction from a wound programme in Latin America: 10 years of experience.

OBJECTIVE: Latin America had only one Spanish-speaking postgraduate academic programme on managing wounds and ostomies until 2021. Since then, two more programmes have been developed; one in Colombia and another in Mexico. Therefore, studying alumni outcomes becomes highly relevant. We aimed to describe the alumni's professional development and academic satisfaction from a Wound, Ostomy and Burn Therapy postgraduate programme in Mexico City, Mexico. METHOD: An electronic survey was sent to all alumni from January-July 2019 from the School of Nursing of Universidad Panamericana. Employability, academic development and satisfaction following completion of the academic programme were evaluated. RESULTS: From 88 respondents, 77 of whom were nurses, 86 (97.7%) answered that they were working, and 86.4% were working in an area related to the studied programme. Regarding general satisfaction, 88% were totally satisfied/satisfied with the programme and 93.2% would recommend it. CONCLUSION: Alumni from the Wound, Ostomy and Burn Therapy postgraduate programme are satisfied with the academic curriculum and have good professional development, demonstrated by a high employment rate.

Development of an Online Telepharmacy Service in the Philippines and Analysis of Its Usage During the COVID-19 Pandemic.

Background: To augment traditional sources of health information at a time of reduced accessibility, a free online telepharmacy service was developed during the COVID-19 pandemic. Objectives: This study details the process of developing and operating an online telepharmacy service, analyzes its usage, and assesses users' health information-seeking patterns. Methods: The service utilized various platforms for receiving and processing queries, communication, and promotion. Submissions received from March 20 to May 31, 2020 were processed for analysis. Parameters analyzed were time patterns of query submission, response time, service feedback, user and patient demographics, and subjects of inquiry. Results: A total of 271 queries were analyzed. Query frequency decreased over time, consistent with relaxation of quarantine restrictions and increasing availability of information. Peak hours of query influx were outside typical business hours. The majority of users were from the general public (93.8%) and preferred to receive responses through text (61.2%). The majority of users from the general public belonged to the 15- to 25-year-old age group (41.1%) and sought information for oneself. Most submissions mentioned COVID-related topics. From the general public, there was greatest interest in drug indications and vitamins, supplements, and herbal products, and from healthcare professionals, in drug procurement. Users who provided feedback (n = 12) all expressed satisfaction with the service and the information they received. Conclusion: Transition to the "new normal" entails adopting alternative platforms to augment traditional sources of health information. An online telepharmacy service may be utilized to provide and clarify medication information as part of primary care.

Past, Present and Future of Research on Wearable Technologies for Healthcare: A Bibliometric Analysis Using Scopus.

Currently, wearable technology is present in different fields that aim to satisfy our needs in daily life, including the improvement of our health in general, the monitoring of patient health, ensuring the safety of people in the workplace or supporting athlete training. The objective of this bibliometric analysis is to examine and map the scientific advances in wearable technologies in healthcare, as well as to identify future challenges within this field and put forward some proposals to address them. In order to achieve this objective, a search of the most recent related literature was carried out in the Scopus database. Our results show that the research can be divided into two periods: before 2013, it focused on design and development of sensors and wearable systems from an engineering perspective and, since 2013, it has focused on the application of this technology to monitoring health and well-being in general, and in alignment with the Sustainable Development Goals wherever feasible. Our results reveal that the United States has been the country with the highest publication rates, with 208 articles (34.7%). The University of California, Los Angeles, is the institution with the most studies on this topic, 19 (3.1%). Sensors journal (Switzerland) is the platform with the most studies on the subject, 51 (8.5%), and has one of the highest citation rates, 1461. We put forward an analysis of keywords and, more specifically, a pennant chart to illustrate the trends in this field of research, prioritizing the area of data collection through wearable sensors, smart clothing and other forms of discrete collection of physiological data.

Impact of Fibromyalgia Syndrome on Female Sexual Function: A Systematic Review With Meta-analysis.

OBJECTIVE: The aim of this study was to examine sexual dysfuntion in women diagnosed with FMS compared with healthy controls. METHODS: A systematic review with meta-analysis was performed. The literature search was conducted using PubMed Medline, Scopus, Web of Science, CINAHL, SciELO, and PsycINFO PROQUEST until February 2021. Observational studies with 2 groups (women with FMS and healthy controls) that assessed sexual function were included. Pooled effect was calculated using Cohen standardized mean difference (SMD) and its 95% confidence interval (CI) in a random-effects model. RESULTS: Twelve studies were included comprising 1367 women (766 diagnosed with FMS and 601 healthy controls). The methodological quality of the included studies was moderate, according to the Newcastle-Ottawa Scale. Our findings showed a significant sexual dysfunction in women diagnosed with FMS (SMD = 1.72; 95% CI, 1.18-2.26; p < 0.001). In addition, the secondary outcomes more affected in women with FMS were sexual satisfaction (SMD = -2.09; 95% CI, -2.83 to -1.36; p < 0.001) and the pain during sexual relations (SMD = -1.97; 95% CI, -2.81 to -1.12; p < 0.001). CONCLUSIONS: Women with FMS showed a significant sexual dysfunction and other related sexual difficulties, such as increase in sexual pain and a decreased sexual desire or sexual satisfaction, compared with healthy women.

UJAmI Location: A Fuzzy Indoor Location System for the Elderly.

Due to the large number of elderly people with physical and cognitive issues, there is a strong need to provide indoor location systems that help caregivers monitor as many people as possible and with the best quality possible. In this paper, a fuzzy indoor location methodology is proposed in a smart environment based on mobile devices and Bluetooth Low Energy (BLE) beacons where a set of Received Signal Strength Indicators (RSSI) is received by mobile devices worn by the inhabitants. The use of fuzzy logic and a fuzzy linguistic approach is proposed to deal with the imprecise nature of the RSSI values, which are influenced by external factors such as radio waves, causing significant fluctuations. A case study carried out at the Smart Lab of the University of Jaén (UJAmI Smart Lab) is presented to demonstrate the effectiveness of the proposed methodology, where our proposal is compared with a non-fuzzy logic approach, obtaining an accuracy of 91.63%, approximately 10 points higher than the methodology without using fuzzy logic. Finally, our theoretical proposal is accompanied by a description of the UJAmI Location system, which applies the theory to the functionality of locating elderly people in indoor environments.

Propiedades psicométricas y métodos de medición de la escala de autoinforme sobre el trastorno de déficit de atención e hiperactividad en adultos - tamizaje (ASRS- Tamizaje) en la población de Lima / Psychometric properties and measurement methods of the Adult Attention and Hyperactivity Disorder Self-Report Scale Screener (ASRS-Screener) in the population of Lima

RESUMEN Objetivos : Determinar la distribución de puntajes, confiabilidad, validez y asociación con variables sociodemográficas de la Escala de Autoinforme sobre el Déficit de Atención e Hiperactividad en Adultos-Tamizaje (ASRS-Tamizaje) en la población de Lima y Callao, según dos formas de calificación (binaria y Likert), y establecer la concordancia entre ambas. Material y Métodos : Se realizó un análisis secundario de la base de datos del Estudio Epidemiológico de Salud Mental de Lima Metropolitana y Callao 2012 - Replicación, en una muestra de 4445 personas de 18 o más años de edad (42,6±17,4). Resultados : El promedio de la ASRS-Tamizaje en escala Likert fue 3,74+3,9 (rango 0-21), la consistencia interna mediante coeficiente alfa de Cronbach =0,806 y mediante el coeficiente omega de McDonald =0,869; el análisis factorial mostró que 52,95% de la inercia total era explicado por un solo factor. En escala binaria la media fue 0,89+1,27 (rango 0-6), el alfa de Cronbach =0,599, el omega de McDonald =0,753 y el 52,31% de la inercia fue explicado por dos factores. Con ambas escalas, se halló un coeficiente Kappa =0,734 de concordancia de tamizajes positivos. Las dos formas de la escala se asocian con la edad, en tanto que solo la clasificación binaria lo hace con estado civil y grado de educación. Conclusiones: La ASRS-Tamizaje es un instrumento de consistencia interna aceptable. Su estructura factorial y la prevalencia de tamizajes positivos varían según la forma de medición (Likert o binaria).

SUMMARY Objectives: To determine the distribution of scores, reliability, validity and association with sociodemographic variables of the Self-Report Scale of Attention Deficit Hyperactivity Disorder in adults - Screening (ASRS- Screening) in the population of Lima and Callao, according to two rating scales (binary and Likert), and to establish the concordance between both of them. Material and Methods : Study based on data from the Epidemiological Mental Health Study of Metropolitan Lima 2012 - Replication, in a sample of 4 445 people, 18 years or older (42.6 ± 17.4). Results : The average of the ASRS-Likert screening was 3.74 + 3.9 (range 0-21), internal consistency using Cronbach alpha coefficient = 0.806, McDonald's omega coefficient = 0,869, and factor analysis showed 52.95% of the total inertia explained by a single factor. In binary scale. mean = 0.89 + 1.27 (range 0-6), Cronbach alpha = 0.599, McDonald's omega=0,753, and 52.31% of the inertia was explained by two factors. With both scales, Kappa coefficient showed 0.734 of concordance of positive screenings. The two forms of qualification are associated with age whereas only binary classification was with marital status and educational level. Conclusions : ASRS-Screening is an instrument of acceptable internal consistency. Its factorial structure and the prevalence of positive screenings vary in accordance with the Likert or binary measurement form.

Superdiversity and Disability: Social Changes for the Cohesion of Migrations in Europe.

In recent years, international migration has changed considerably, improving our understanding of the diversity of migrants, something that until recently was viewed as a fixed pattern associated with the ethnic group in question. At the same time, in the international context, the importance and the need to recognize the rights of people with disabilities has grown. Therefore, the purpose of this paper is to provide a more detailed analysis of this phenomenon in Europe, from the perspective of superdiversity, which covers the different variables that come into play, as well as the responses to the diverse needs that are provided through the action protocols in host countries. To address the objective of this research, we present a critical review of the migration policies undertaken at the European level, methodologically approached using the causal inference model. Our findings show a lack of structure of social and professional intervention policies, at the international level, towards refugees with disabilities. We conclude by presenting a series of political guidelines that rely on scientific evidence to improve the lives of migrants with disabilities.

Fuzzy Protoform for Hyperactive Behaviour Detection Based on Commercial Devices.

Hyperactive behaviour refers to a person making more movement than expected for his or her age and development, acting impulsively, and being easily distracted. There is a need to encourage early and reliable detection through the proposal of new methodologies and systems in the context of hyperactive behaviour to prevent or lessen related problems and disorders. This paper presents a methodology to compute a fuzzy protoform (a linguistic description) as an estimator for hyperactive behaviour. The proposed methodology is developed in a system called Smart HyBeDe, which integrate non-invasive and commercial wearable devices, such as activity bracelets, in order to capture data streams from inertial measurement units and optical heart rate sensors. The generated data by the wearable device are synchronized with a mobile device to process the fuzzy protoform to inform family members and professionals. Three datasets generated by the wearable device in real contexts are presented. These datasets are used to evaluate the impact of wrist choice for the wearable device, multiple fuzzy temporal windows, different aggregation operators, and relevant linguistic terms to define the fuzzy protoform as an estimator for the hyperactive behaviour. The results, analysed by a hyperactive behaviour expert, show that the proposed protoform is a suitable hyperactive behaviour estimator.

Moving Towards Optimized Noncommunicable Disease Management in the ASEAN Region: Recommendations from a Review and Multidisciplinary Expert Panel.

INTRODUCTION: Noncommunicable diseases (NCDs) are the leading cause of morbidity and mortality in the Association of Southeast Asian Nations (ASEAN) member states. Progress has been slow despite the World Health Organization action plan for the prevention and control of NCDs in the region. This paper presents recommendations focused on practical strategies for optimizing NCD management in the ASEAN region. METHODS: A multidisciplinary group of experts from six ASEAN member states convened for two face-to-face meetings to discuss barriers and possible recommendations for optimizing NCD management, focused on cardiovascular diseases and mental disorders, in the region. Multiple approaches, ie, analysis of insights from the meetings and a review of existing literature on NCD programs in the ASEAN region were followed. The proposed recommendations were also based on selected successful interventions in ASEAN member states, thus providing actionable strategies. RESULTS: The gaps identified in NCD management for cardiovascular diseases and mental disorders in the ASEAN region were classified into gaps relating to policies and to clinical and public health practice. The proposed solutions addressing policy gaps include fostering multisectoral public-private partnerships, employing "whole-of-government" and "whole-of-society" approaches and promoting "health-in-all policies approach" to manage issues with financing, accessibility, efficiency and quality of health services. Whereas proposed solutions to bridge clinical and public health practice gaps entail strengthening primary care services, building the capacity of trained healthcare workers and employing collaborative care for holistic management of patients. CONCLUSION: The scale of premature and preventable deaths from NCDs in the ASEAN region remains a serious public health concern and requires a "whole-of-system approach". The interventions proposed in this paper build on regional collaborations and knowledge sharing to help develop a concerted and targeted response to NCDs.

Factors Conditioning Sexual Behavior in Older Adults: A Systematic Review of Qualitative Studies.

The sexual behavior of older adults, especially women, has undergone changes in recent years, though there are still certain stereotypes today related to pathophysiology, beliefs, culture and tradition that negatively affect older adults' sexual activity. The aim of our review is to present the main qualitative studies analyzing how physiological and psychosocial factors affect sexual behavior in older adults. A systematic review of these qualitative studies was carried out. All stages of this review were carried out peer-to-peer in order to guarantee minimized bias. A bibliographical search was completed between February and April 2019, in Web of Science, Scopus, PubMed Medline, PsycINFO ProQuest and CINAHL. To analyze the findings of the selected qualitative studies, a "Thematic Synthesis Analysis" was performed, using Eppi-Reviewer 4 software (UCL Institute of Education, University of London, UK). The quality of the studies was assessed with a CASP-Qualitative-Checklist. A total of 16,608 references were screened and 18 qualitative studies were included in this review. The studies involved 2603 participants across seven countries, most being women (approximately 80%). We identified a wide variety of physiological and psychological factors that can influence the sexual behavior of older adults, such as the presence of pathologies (erectile dysfunction and menopause), the strength of spiritual beliefs, and patriarchal roles upheld by upbringings conveying that women's role is to provide men with sexual pleasure. Biological age in relation to stereotypical models of sexual behavior, emphasized as a risk factor in the contraction of sexual diseases, seems to play a relevant role as a factor limiting sexual behavior in older adults.

Salud comunitaria confinada: reflexiones y experiencias desde la salud pública local / Confined community health: reflections and experiences from the local public health

Este artículo pretende compartir las reflexiones sobre la acción comunitaria en que la Agència de Salut Pública de Barcelona ha estado involucrada en la emergencia de COVID-19. El trabajo realizado puede ordenarse en tres etapas, frecuentemente solapadas: detectar necesidades o problemas, e informar; contactar con las personas participantes y agentes territoriales para valorar qué hacer y cómo hacerlo; y adaptar las intervenciones a la "nueva normalidad" y generar respuestas con los activos comunitarios a las necesidades detectadas. Los problemas emergentes incluyeron: no poder realizar el confinamiento (por falta de casa, condiciones materiales, vivir en situación de violencia); brecha digital (falta de conocimientos, dispositivos, acceso a Wifi); mayor exposición al COVID-19 en los trabajos esenciales pero precarizados, feminizados y racializados (cuidados, limpieza, alimentación), frecuentes en los barrios en que trabajamos; barreras idiomáticas y culturales para seguir las recomendaciones; pérdida de empleo; ingresos insuficientes para cubrir necesidades básicas; dificultades de conciliación; aislamiento social; y deterioro de la salud emocional provocado por la situación. Durante el proceso, algunas intervenciones se adaptaron para continuar de forma telemática, y se intentaron cubrir las necesidades primarias sobre conocimientos y dispositivos de algunas personas participantes a través de las redes solidarias y recursos existentes. La acción comunitaria en salud, desde una mirada crítica, interseccional y local, mediante trabajo intersectorial y la participación de la comunidad, puede contribuir a: facilitar una respuesta adaptada al contexto en caso de crisis sanitaria y mitigar los efectos derivados de esta crisis económica y social

This paper aims to share the reflections related to the community actions in which the Agència de Salut Pública de Barcelona has been involved during the emergency of COVID-19. The tasks carried out can be arranged in three stages, frequently overlapping: detection of needs and problems; contact with key stakeholders to assess what to do and how to do it; adaptation of the interventions to the "new normal" and generation of new responses. The emerging problems included: not being able to do the confinement (due to homelessness, material conditions, living in a situation of violence); digital gap (lack of knowledge, devices, access to Wifi); greater exposure to COVID-19 in the essential but precarious, feminized and racialized jobs (care, cleaning, food shops) that are the most frequent in the neighborhoods in where we work; language and cultural barriers that preclude to follow recommendations; to lose employment; insufficient income to cover basic needs; social isolation; and the deterioration of emotional health caused by the situation. During the process, some interventions were adapted to be delivered on-line. Solidarity networks and local resources were key to meet basic needs, but also other needs related to lack of digital knowledge or device. Community action in health, from a critical, intersectional and local perspective, and with intersectoral work and community participation, can contribute to: facilitate a contextualized response in the event of a health crisis; mitigate the effects derived from its economic and social crisis

Cultural Sensitivity and Global Pharmacy Engagement in Asia: India, Indonesia, Malaysia, Philippines, and Vietnam.

Schools and colleges of pharmacy in the United States increasingly interact with those in Asian countries for various purposes such as education and research. For both those visiting and those hosting, it is important to understand and respect the culture of the other's country to enrich these interactions. This paper, the second of two manuscripts on Asian countries, focuses on India, Indonesia, Malaysia, Philippines, and Vietnam. For each country, the following information is provided: general introduction, health care system, pharmacy practice, and pharmacy education, stereotypes and misconceptions, recommendations for US-based health care professionals, faculty members, and students who visit these Asian countries, and recommendations for them to host visitors from these Asian countries. The aim of this paper is to assist US health care professionals, faculty members, and students in initiating and promoting a culturally sensitive engagement.

Medicines management in the Philippine public sector during the response to Haiyan.

INTRODUCTION: Health service delivery in the Philippines is constantly challenged by disasters and emergencies. This descriptive study documented existing policies for medicines management in the Philippines and then assessed these in the public sector response post-Haiyan. METHOD: We used desk a review of existing laws, regulations and related issuances and a series of interviews of key informants from various national and local health agencies. RESULTS: We found that while numerous national policies covered critical aspects of medicines management, implementation post-Haiyan was problematic at all levels of the decentralized health-care system. We identified issues of quantification, warehousing, distribution, utilization monitoring and disposal. Donated medicines also added additional burden for storage and disposal, especially for expired and unwanted medicines. DISCUSSION: While the process of managing medicines during disasters did not differ greatly from non-emergency situations, the Haiyan experience highlighted the system's weaknesses. With the current gaps in implementation, as well as the logistical obstacles brought about by disasters, there is a need to have integrated mechanisms for medicines management in the Philippines. This assessment provided an important opportunity to review the medicines management policies at national and local levels.

Índice de calidad de vida: Validación en una muestra peruana / Quality of Life Index: Validation in a sample Peruvian

La publicación describe la metodología del cálculo del Índice de Calidad de Vida (ICV) versión española de Mezzich y colaboradores, estimar su confiabilidad y validez, obtención de normas para la población de Lima y análisis de variación de las puntuaciones según las variables demográficas

Índice de calidad de vida: Validación en una muestra peruana / Quality of Life Index: Validation in a sample Peruvian

La presente publicación describe la metodología del cálculo del Índice de Calidad de Vida (ICV) versión española de Mezzich y colaboradores, estimar su confiabilidad y validez, obtención de normas para la población de Lima y análisis de variación de las puntuaciones según las variables demográficas(AU)

Consensus statement: appropriate consumer education and communication programs for weight- loss agents in Asia.

BACKGROUND AND AIM: The increasing prevalence of overweight and obesity worldwide demands increased efforts in the prevention and management of obesity. This article aims to present consensus statements promoting appropriate consumer education and communication programs for weight-loss agents in Asia. METHODS: Panel members from various disciplines developed consensus statements based on an expert meeting on the benefits of consumer education and communication programs for over-the-counter weight-loss agents. Key opinion leaders discussed relevant data that served as the basis of the recommendations. RESULTS: Obesity is a growing epidemic in Asia, turning the region into a potential market for weight-loss products and services. Current trends in direct-to-consumer advertising demonstrate the pervasiveness of false representations lacking adequate substantiation. Relevant issues and recommendations were established. CONCLUSIONS: Public education on weight management is a shared responsibility; there is a need to raise public awareness of obesity and its health-related consequences. Advertising guidelines should ensure responsible direct-to-consumer advertising of weight-loss agents.

Culturally appropriate health education for type 2 diabetes mellitus in ethnic minority groups.

BACKGROUND: Ethnic minority groups in upper-middle and high income countries tend to be socio-economically disadvantaged and to have higher prevalence of type 2 diabetes than the majority population. OBJECTIVES: To assess the effectiveness of culturally appropriate diabetes health education on important outcome measures in type 2 diabetes. SEARCH STRATEGY: We searched the The Cochrane Library, MEDLINE, EMBASE, PsycINFO, CINAHL, ERIC, SIGLE and reference lists of articles. We also contacted authors in the field and handsearched commonly encountered journals. SELECTION CRITERIA: RCTs of culturally appropriate diabetes health education for people over 16 years with type 2 diabetes mellitus from named ethnic minority groups resident in upper-middle or high income countries. DATA COLLECTION AND ANALYSIS: Two authors independently assessed trial quality and extracted data. Where there were disagreements in selection of papers for inclusion, all four authors discussed the studies. We contacted study authors for additional information when data appeared to be missing or needed clarification. MAIN RESULTS: Eleven trials involving 1603 people were included, with ten trials providing suitable data for entry into meta-analysis. Glycaemic control (HbA1c), showed an improvement following culturally appropriate health education at three months (weight mean difference (WMD) - 0.3%, 95% CI -0.6 to -0.01), and at six months (WMD -0.6%, 95% CI -0.9 to -0.4), compared with control groups who received 'usual care'. This effect was not significant at 12 months post intervention (WMD -0.1%, 95% CI -0.4 to 0.2). Knowledge scores also improved in the intervention groups at three months (standardised mean difference (SMD) 0.6, 95% CI 0.4 to 0.7), six months (SMD 0.5, 95% CI 0.3 to 0.7) and twelve months (SMD 0.4, 95% CI 0.1 to 0.6) post intervention. Other outcome measures both clinical (such as lipid levels, and blood pressure) and patient centred (quality of life measures, attitude scores and measures of patient empowerment and self-efficacy) showed no significant improvement compared with control groups. AUTHORS' CONCLUSIONS: Culturally appropriate diabetes health education appears to have short term effects on glycaemic control and knowledge of diabetes and healthy lifestyles. None of the studies were long-term, and so clinically important long-term outcomes could not be studied. No studies included an economic analysis. The heterogeneity of studies made subgroup comparisons difficult to interpret with confidence. There is a need for long-term, standardised multi-centre RCTs that compare different types and intensities of culturally appropriate health education within defined ethnic minority groups.

Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis.

PURPOSE: We present the results of carrier studies in 33 relatives of the paternal branch of a spinal muscular atrophy patient with homozygous absence of the SMN1 gene. METHODS AND RESULTS: Once linkage and quantitative analyses were performed, a number of first-, second- and third-degree relatives were identified as carriers given that they shared the at-risk haplotype and showed one SMN1 copy. In the fourth-degree relatives, linkage analysis demonstrated discordance with the quantitative results because the members with one copy were carriers of the mutation, but in a different haplotype background. We concluded that two independent mutations were present in this branch of the family. Furthermore, the combination of both methods of analysis allowed us to identify carriers with two SMN1 genes in one chromosome and none in the remaining chromosome. CONCLUSIONS: Carrier testing in spinal muscular atrophy should be performed by employing both quantitative and linkage analyses in order to guarantee accurate carrier identification.

Hippocampal gene expression profiling in spatial discrimination learning.

Learning and long-term memory are thought to involve temporally defined changes in gene expression that lead to the strengthening of synaptic connections in selected brain regions. We used cDNA microarrays to study hippocampal gene expression in animals trained in a spatial discrimination-learning paradigm. Our analysis identified 19 genes that showed statistically significant changes in expression when comparing Nai;ve versus Trained animals. We confirmed the changes in expression for the genes encoding the nuclear protein prothymosin(alpha) and the delta-1 opioid receptor (DOR1) by Northern blotting or in situ hybridization. In additional studies, laser-capture microdissection (LCM) allowed us to obtain enriched neuronal populations from the dentate gyrus, CA1, and CA3 subregions of the hippocampus from Nai;ve, Pseudotrained, and spatially Trained animals. Real-time PCR examined the spatial learning specificity of hippocampal modulation of the genes encoding protein kinase B (PKB, also known as Akt), protein kinase C(delta) (PKC(delta)), cell adhesion kinase(beta) (CAK(beta), also known as Pyk2), and receptor protein tyrosine phosphatase(zeta/beta) (RPTP(zeta/beta)). These studies showed subregion specificity of spatial learning-induced changes in gene expression within the hippocampus, a feature that was particular to each gene studied. We suggest that statistically valid gene expression profiles generated with cDNA microarrays may provide important insights as to the cellular and molecular events subserving learning and memory processes in the brain.