A fusion architecture to deliver multipurpose mobile health services.

Mobile Health (mHealth) services typically make use of customized software architectures, leading to development-dependent fragmentation. Nevertheless, irrespective of their specific purpose, most mHealth services share common functionalities, where standard pieces could be reused or adapted to expedite service deployment and even extend the follow-up of appearing conditions under the same service. To harness compatibility and reuse, this article presents a data fusion architecture proposing a common design framework for mHealth services. An exhaustive mapping of mHealth functionalities identified in the literature serves as starting point. The architecture is then conceptualized making use of the Joint Directors of Laboratories (JDL) data fusion model. The aim of the architecture is to exploit the multi-source data acquisition capabilities supported by smartphones and Internet of Things devices, and artificial intelligence-enabled feature fusion. A series of interconnected fusion layers ensure streamlined data management; each layer is composed of microservices which may be implemented or omitted depending on the specific goals of the healthcare service. Moreover, the architecture considers essential features related to authentication mechanisms, data sharing protocols, practitioner-patient communication, context-based notifications and tailored visualization interfaces. The effectiveness of the architecture is underscored by its instantiation for four real cases, encompassing risk assessment for youth with mental health issues, remote monitoring for SARS-CoV-2 patients, liquid intake control for kidney disease patients, and peritoneal dialysis treatment support. This breadth of applications exemplifies how the architecture can effectively serve as a guidance framework to accelerate the design of mHealth services.

Ética de los sentimientos, desarrollo de capacidades, memoria histórica y reconciliación: la fragilidad del personal de salud en el conflicto armado colombiano / Ètica dels sentiments, desenvolupament de capacitats, memòria històrica i reconciliació: la fragilitat del personal de salut al conflicte armat colombià / Ethics of feelings, capacity building, historical memory, and reconciliation: the fragility of health personnel in the Colombian armed conflict

Objetivo: analizar la forma en que los sentimientos y la recuperación de la memoria colectiva, posibilitan la disminución de la fragilidad social y política de los integrantes de la Misión Médica, haciendo factible nuevas maneras de participación, mediante el desarrollo de capacidades deliberativas desde la perspectiva bioética. Metodología: estudio exploratorio con enfoque cualitativo, que toma en cuenta la subjetividad e intersubjetividad de los participantes. Con fuentes de información heterogénea: grupos focales, entrevistas semiestructuradas y cartillas de campo, se constituyó un marco de factores relevantes, que permitieron procesar la información, mediante relaciones y categorizaciones conceptuales,para su posterior triangulación. Resultados: los sentimientos con mayor impacto ético en Misión Médica: incertidumbre, inseguridad ante el trabajo, ansiedad por los hechos de violencia, tristeza, temor, miedo e impotencia; producen efectos emocionales relacionados con el principio de maleficencia. La resiliencia, ha impedido realizar ejercicios de memoria colectiva, a causa del negacionismo y temor a recordar los hechos más significativos, esto les ha impedido el acceso a los mecanismos de Justicia Restaurativa. La ausencia de capacidades para afrontar la situación compromete la autonomía individual, la salud laboral y genera carencias legales no resueltas. Conclusiones: los sentimientos colectivos en el ámbito público del personal sanitario prevalecen sobre los sentimientos individuales basados en vivencias, que afectan la capacidad de deliberación, esto implica promover ejercicios de memoria colectiva, sobre los hechos del conflicto, mediante el desarrollo de capacidades que fortalezcan la legitima defensade su autonomía y el desarrollo de un ejercicio profesional beneficiente, ante situaciones limítrofes de confrontación.(AU)

Objectiu: analitzar la manera com els sentiments i la recuperació de la memòria col·lectiva, possibiliten la disminució de la fragilitat social i política dels integrants de la Missió Mèdica, fent factible noves maneres de participació, mitjançant el desenvolupament de capacitats deliberatives des de la perspectiva bioètica. Metodologia: estudi exploratori amb enfocament qualitatiu, que té en compte la subjectivitat i la intersubjectivitat dels participants. Amb fonts d'informació heterogènia: grups focals, entrevistes semiestructurades i cartilles de camp, es va constituir un marc de factors rellevants, que van permetre processar la informació, mitjançant relacions i categoritzacions conceptuals, per triangular-les posteriorment. Resultats: els sentiments amb més impacte ètic a Missió Mèdica: incertesa, inseguretat davant la feina, ansietat pels fets de violència, tristesa, temor, por i impotència; produeixen efectes emocionals relacionats amb el principi de maleficència. La resiliència, ha impedit fer exercicis de memòria col·lectiva, a causa del negacionisme i temor de recordar els fets més significatius, això els ha impedit l'accés als mecanismes de Justícia Restaurativa. L'absència de capacitats per fer fronta la situació compromet l'autonomia individual, la salut laboral i genera mancances legals no resoltes. Conclusions: els sentiments col·lectius en l'àmbit públic del personal sanitari prevalen sobre els sentiments individuals basats en vivències, que afecten la capacitat de deliberació, això implica promoure exercicis de memòria col·lectiva, sobre els fets del conflicte, mitjançant el desenvolupament de capacitats que enforteixin la legítima defensa de la seva autonomia i el desenvolupament d'un exercici professional beneficient, davant de situacions limítrofes de confrontació.(AU)

Objective: to analyze the way in which feelings and the recovery of collective memory make it possible to reduce the social and political fragility of the members of the Medical Mission, making new ways of participation feasible, through the development ofdeliberative capacities from a bioethical perspective. Methodology: exploratory study with qualitative approach, which considers the subjectivity and intersubjectivity of the participants. With heterogeneous sources of information: focus groups, semi-structured interviews and field primers, a framework of relevant factors was constituted, which allowed processing the information, through conceptual relationships and categorizations, for its subsequent triangulation. Results: the feelings with the greatest ethical impact in Mission Medical: uncertainty, insecurity at work, anxiety due to acts of violence, sadness, fear, fear, and impotence; produce emotional effects related to the principle of maleficence. Resilience has prevented them from carrying out collective memory exercises, due to denial and fear of remembering the most significant events, which has prevented them from accessing Restorative Justice mechanisms. The absence of capacities to face the situation compromises individual autonomy, occupational health and generates unresolved legal shortcomings. Conclusions: collective feelings in the public sphere of health personnel prevail over individual feelings based on experiences, which affect the capacity for deliberation, this implies promoting exercises of historical memory on the facts of the conflict, through the development of capacities that strengthen the legitimate defense of their autonomy and the development of a beneficial professional exercise, in the face of borderline situations of confrontation.(AU)

Reducing ageism combining ageing education with clinical practice: A prospective cohort study in health sciences students.

AIM: To analyse the impact of an intervention combining ageing education with clinical practice in nursing homes on a nursing cohort's negative stereotypes and prejudices towards ageing. DESIGN: A prospective cohort study was conducted in September 2019-October 2020 in a population of health sciences students (n = 222). METHODS: Questionnaire of Negative Stereotypes towards Aging (CENVE) and Aging Semantic Differential (DSE) were used to examine negative stereotypes and prejudices towards ageing in the nursing cohort exposed to the ageing education and practice intervention compared to a medical cohort that received no intervention. Group-by-time interaction, controlled by sex and age, for the effect of the intervention on CENVE and DSE scores was determined by mixed-design ANOVA. RESULTS: The nursing cohort significantly reduced negative stereotypes and prejudices towards ageing when compared to the medical cohort in total (F = 26.926; p < 0.001), health factor (F = 16.812; p < 0.001), motivational and social factor (F = 11.266; p = 0.001), and character and personality factor (F = 19.202; p < 0.001) scores of CENVE scale and in DSE (F = 7.826; p = 0.006).

Reducing Negative Aging Stereotypes via Educational Intervention in Older People: A Randomized Controlled Study.

Anti-ageism interventions traditionally target younger individuals. We analyzed the effect of an educational intervention that combined an infusion of aging content with videos to reduce negative stereotypes toward aging in a randomized controlled study of 56 community-dwelling older adults. The experimental group received a single one-hour information session and video viewing on ageism; the control group viewed 1 hour of videos unrelated to ageism. Repeated-measures ANOVA indicated that the experimental group reported a significantly reduced Negative Stereotypes Toward Aging Questionnaire (CENVE) total score along with an independent measure of the character-personality factor in this questionnaire 1 week and 1 month after the intervention compared to baseline. The control group showed no changes. This work reports for the first time that a one-hour information session about aging combined with video viewing on ageism can efficiently reduce negative stereotypes of aging in older people in the short and medium term.

Leishmania infantum Specific Humoral and Cellular Immune Responses in Cats and Dogs: A Comparative Cross-Sectional Study.

Dogs are the main reservoir of Leishmania infantum and display different immunological patterns correlating with the progression of infection to disease. Data about feline L. infantum adaptive immune response are scant. This study aimed to compare the prevalence and immune response in cats and dogs from the same endemic area of canine leishmaniosis. Stray cats (109) and rescued dogs (59) from Córdoba (Spain) were enrolled. Data about their exposure to L. infantum were analyzed by detection of parasite DNA, measurements of Leishmania-specific interferon-γ (whole blood assay in 57 cats and 29 dogs), and antibodies (enzyme-linked immunosorbent assay and immunofluorescence antibody test). An overall L. infantum prevalence of 30.5% in dogs and 30% in cats were found according to serology and PCR tests. Prevalence was 44.8% in dogs and 35.1% in cats tested also for interferon-γ production. Dogs showed higher anti-L. infantum antibody levels compared to cats. More than one-third of cats had contact with or were infected by L. infantum and they may contribute to the endemicity of leishmaniosis in the investigated region. The immunopathogenesis of feline L. infantum infection has similarities with dogs but cats show a lower level of adaptive immune response compared to dogs.

Experience in the treatment of esophageal anastomosis dehiscence using self-expanding metallic prosthesis

Introduction: esophageal anastomosis dehiscence is a serious complication after esophageal cancer surgery with high mortality risk. One of the treatment options is self-expanding esophageal prostheses. Our aim was to evaluate the outcome of esophageal prostheses in the management of suture dehiscences after oncologic surgery.Material and methods: we performed a descriptive and retrospective study with patients diagnosed with esophageal anastomosis fistula or dehiscence treated by esophageal prosthesis between the years 2015 and 2021. We considered technical success as the correct positioning of the prosthesis with visualization of anastomotic leak closure after release of the prosthesis during endoscopy, and clinical success the resolution of dehiscence after removal of the prosthesis 8 weeks after positioning.Results: technical success was 95% and clinical success 89%.Conclusion: in our center, esophageal prostheses are a treatment option for fistulas and anastomotic dehiscence after surgery with a high success rate and few complications. (AU)

Achievements and challenges in baccalaureate student nurses' preparation for evidence-based nursing practice: A mixed methods study.

BACKGROUND: Evidence-based nursing (EBN) implementation is still limited. The effect of the incorporation of this competence into the whole nursing curricula as a cross-cutting topic has not yet been assessed. OBJECTIVE: This study aimed to explore the perceptions of final year student nurses of their preparation for EBN practice and its current implementation in the local healthcare system. DESIGN: This study followed a mixed-methods approach. The data collection methods were a self-administered online questionnaire followed by individual in-depth interviews. RESULTS: The majority of participants (93.4%) chose asking a colleague as the main source of information for decision making during their last year of clinical training. However, scientific evidence was considered the most accurate and credible source instead of colleagues. The main barriers impeding EBN practice were revealed to be: not being able to find the required information, lack of time to search, and not feeling able to interpret information found. In the qualitative analysis of the interviews, three categories were identified: 'Towards EBN at a snail's pace'; 'A huge gap between theory and practice'; and 'Where is nursing?' CONCLUSIONS: Although participants in this study consistently attributed more credibility to clinical guidelines, protocols, and scientific publications over colleagues, asking a colleague continues to be the main resource to address clinical doubts. Lack of institutional support, the unresolved theory-practice gap in nursing, and the status of nurses in relation to other healthcare providers were identified as barriers for further EBN implementation.

Association between feline immunodeficiency virus and Leishmania infantum infections in cats: a retrospective matched case-control study.

BACKGROUND: Feline leishmaniosis caused by Leishmania infantum is often associated with feline immunodeficiency virus (FIV) infection; however, the role and clinical significance of this coinfection remain unknown. This study aimed to assess whether FIV is associated with L. infantum infection in cats from canine leishmaniosis endemic areas and to report the clinical signs and hematological alterations associated with coinfection. METHODS: A retrospective matched case-control study (ratio 1:2) was conducted. Data of clinical examination and complete blood count (CBC) were selected from a cohort of 705 cats examined for epidemiological studies on feline leishmaniosis conducted between 2012 and 2019. Ninety-one FIV seropositive cases and 182 FIV seronegative control cats were selected. Matching was done according to age, sex, lifestyle and geographic provenience of case cats. Rapid ELISA devices were mainly used to detect anti-FIV antibodies. Anti-Leishmania IgG antibodies were detected by indirect-immunofluorescence test (IFAT). Leishmania DNA was searched in blood, oral and conjunctival swabs by quantitative real-time PCR. RESULTS: Feline immunodeficiency virus seropositive cats had no hematological abnormalities suggestive of an advanced stage of FIV infection and were statistically more frequently IFAT positive, and their risk of being L. infantum antibody positive was 2.8 greater than in the FIV seronegatives. The association of FIV seropositivity with L. infantum antibody positivity was confirmed in the univariable model of logistic regression. A multivariate model found FIV infection and L. infantum PCR positivity as predictors of a positive L. infantum IFAT result. Male outdoor cats from rural or suburban areas were at risk for FIV and L. infantum antibody positivity. Clinical signs more frequently associated with the coinfection were oral lesions, pale mucous membranes and low body condition score (BCS). CONCLUSIONS: This study documents that FIV seropositive cats with no hematological abnormalities suggestive of an advanced stage of FIV infection are more prone to be L. infantum seroreactive by IFAT in endemic areas. Therefore, FIV seropositive cats should be tested for L. infantum antibodies and treated for preventing sand fly bites. Pale mucous membranes, low BCS and oral lesions but no CBC abnormalities were significantly associated with the coinfection.

Experience in the treatment of esophageal anastomosis dehiscence using self-expanding metallic prosthesis.

INTRODUCTION: esophageal anastomosis dehiscence is a serious complication after esophageal cancer surgery with high mortality risk. One of the treatment options is self-expanding esophageal prostheses. Our aim was to evaluate the outcome of esophageal prostheses in the management of suture dehiscences after oncologic surgery. MATERIAL AND METHODS: we performed a descriptive and retrospective study with patients diagnosed with esophageal anastomosis fistula or dehiscence treated by esophageal prosthesis between the years 2015 and 2021. We considered technical success as the correct positioning of the prosthesis with visualization of anastomotic leak closure after release of the prosthesis during endoscopy, and clinical success the resolution of dehiscence after removal of the prosthesis 8 weeks after positioning. RESULTS: technical success was 95% and clinical success 89%. CONCLUSION: in our center, esophageal prostheses are a treatment option for fistulas and anastomotic dehiscence after surgery with a high success rate and few complications.

Serum Sestrin-1 Concentration Is Higher in Frail than Non-Frail Older People Living in Nursing Homes.

Given the increasing prevalence of frailty and its implications for public health, the identification of biomarkers to detect frailty is essential. Sestrin-1 is a protein with a protective role in muscle function. This study aimed to determine whether the serum sestrin-1 concentration differed between frail and non-frail populations and to investigate its association with frailty-related variables in 225 older women and men living in nursing homes (Gipuzkoa, Spain). Serum sestrin-1 concentration was measured by ELISA. Frailty, dependence, anthropometry, physical function, and physical activity were determined by validated tests and tools. The associations between sestrin-1 concentration and the other variables were determined using generalized linear models. The differences between frail and non-frail individuals were analyzed by the Mann-Whitney U-test, and receiver operating characteristic (ROC) curves were constructed to calculate the capability of sestrin-1 to detect frailty. Unexpectedly, frail individuals-according to the Fried Frailty Phenotype or the Clinical Frailty Scale-had higher serum sestrin-1 concentrations than non-frail individuals. Furthermore, the higher serum sestrin-1 concentration was associated with the increased frailty scores and dependence as well as the poorer physical function and the less physical activity. Given the contradictory results regarding serum sestrin-1 and frailty, further investigation is required to propose it as a molecular biomarker of frailty.

A further step in the differential diagnosis of refractory abdominal pain: cryptogenic multifocal ulcerous stenosing enteritis.

We present the case of a 45-year-old male smoker, who presented with intermittent abdominal pain related to intake since one year previously. During the study, positive anti-transglutaminase antibodies were detected, leading to a diagnosis of celiac disease, with no improvement of the clinical symptoms despite total suspension of gluten. The study was completed by magnetic resonance (MR) enterography, detecting extensive and ill-defined inflammatory alterations in the jejunum and proximal ileum walls.

Influence of the COVID-19 Pandemic on the Lifestyles of Health Sciences University Students in Spain: A Longitudinal Study.

The COVID-19 pandemic has significantly impacted daily activities worldwide. University students may have experienced substantial changes in daily living as a result of restrictions on university attendance. The return to normalcy may take a long time, and understanding the influence that shifts in daily routines have had on the lifestyles of university students may inform approaches to support overall well-being. We analyzed changes in the lifestyles of students enrolled at a health sciences university during the COVID-19 pandemic. This longitudinal study took place at the Faculty of Medicine and Nursing in the University of the Basque Country in Spain, and the final sample consisted of 113 nursing students, 109 medical students, and 45 physiotherapy students. Our results demonstrate changes in lifestyles of university students during the pandemic. MedDiet adherence scores and the percentage of students with high adherence increased during the pandemic. This increase was due to the increased consumption of vegetables and nuts. In terms of physical activity, the practice of moderate and intense physical activity was maintained. These results provide important information for both public health authorities and educational institutions to guide strategies to maintain the well-being of students and enhance opportunities for young adults to lead a healthy lifestyle.

Her2-Positive and Microsatellite Instability Status in Gastric Cancer-Clinicopathological Implications.

Gastric cancer (GC) is one of the leading causes of cancer-related death. The combination of new molecular classifications with clinicopathological data could contribute to the individualization of patients and to the development of new therapeutic strategies. We examined the various associations in two molecular types of GC: HER2-positive (human epidermal growth factor receptor 2) and microsatellite instability (MSI), assessing their influence on treatment and prognosis. A retrospective study of 142 GC patients was performed with molecular characterization through HER2 overexpression and DNA repair protein expression for MSI. The percentage of HER2-positive tumors was 13.4%, predominantly in men. Correlations were found with intestinal type, metastases, advanced stages and chemotherapy. Almost 75% of HER2-positive patients died. MSI occurred in 16.2%, associated with advanced age, female sex, distal location and intestinal type. These patients had few metastases and low stages. The percentage of deaths was higher among MSI patients who received perioperative chemotherapy. The determination of HER2 and MSI status in GC is important for their association with specific clinicopathological features and for their prognostic and predictive value.

Uterosacral Ligament Hysteropexy for Uterine Didelphys: A Case Report.

Surgical approach to pelvic organ prolapse has traditionally included hysterectomy; however, in the past decade, uterine sparing prolapse surgery (hysteropexy) has become increasingly popular within female pelvic medicine and reconstructive surgery. The current literature demonstrates comparable outcomes for hysteropexy and traditional approach. As these procedures become more common, it is important to consider how to approach patients with unique anatomy such as uterine anomalies who desire uterine sparing surgery. In our case, we describe a woman aged 77 years with uterine didelphys who underwent a successful vaginal uterosacral ligament hysteropexy for stage 2 pelvic organ prolapse and was followed for 12 months postoperatively. Our case demonstrates that vaginal uterosacral ligament hysteropexy is feasible in a patient with uterine didelphys.

An Overground Robotic Gait Training Program for People With Multiple Sclerosis: A Protocol for a Randomized Clinical Trial.

Maintaining the ability to walk is one of the significant challenges in people with multiple sclerosis (MS) for keeping a good quality of life as the disease and the aging process progresses. Overground robotic (OR) wearable exoskeletons are promising tools for gait rehabilitation, but currently there is no evidence of their clinical effects on patients with MS. The present study aims to determine the effects of an OR intervention in people with MS and moderate to severe walking disabilities and ascertain if benefits are maintained over a follow-up period of 3 months. This randomized controlled trial will include 36 participants with MS. Inclusion criteria are: older than 18 years, definitive diagnosis of MS, 4.5-7 points on the EDSS (Expanded Disability Status Scale), and needing one or two canes or crutches for walking outdoors. Subjects in the control group will receive conventional physiotherapy sessions at ADEMBI (Asociación de Esclerosis Múltiple de Bizkaia) provided to control spasticity, maintain articular range and exercise balance. Subjects in the intervention group will receive the same physiotherapy but also participate in a progressive OR gait training program assisted by the EksoTM exoskeleton. The program consists of twice a week individually supervised sessions in two setting modalities: PreGait and ProStepPlus. The training parameters (duration, speed, cadence, length of steps) will be set during the first session and the progression and intensity of the intervention will be adapted to the tolerance of each participant. The primary outcome of this study is gait speed. Secondary outcomes will include physical and cognitive performance tests, clinical, fatigue and quality of life assessments, and changes in the plasma levels of inflammatory cytokines. The present trial is the first analyzing the effectiveness of an OR intervention for gait training in patients with MS. It will help clarify the applicability of robotic technologies to clinical practice, extending the functionality and quality of life of people with MS to face a successful aging process. (ACTRN12619000014156; https://anzctr.org.au/Trial/Registration/TrialReview.aspx?id=376548).

Hemophagocytic lymphohistiocytosis in a patient with glioblastoma: a case report.

Adult onset hemophagocytic lymphohistiocytosis (HLH) is a rare condition, usually secondary to either a precipitating infective or hematologic malignancy. We present a case of Epstein-Barr virus associated HLH in a 55-year-old female receiving treatment for a glioblastoma (GBM). It is possible that HLH is under recognized, as patients with GBM often have features of a nonspecific systemic inflammatory response syndrome, multiorgan failure and cognitive decline. A high index of suspicion and increased awareness can help improve timeliness of diagnosis. Therapeutically, Epstein-Barr virus associated HLH in patients with solid organ malignancy poses significant challenges. An individualized, multidisciplinary approach is essential when managing adult-onset HLH and providers will need to be mindful of the high mortality rate despite treatment.

Bone Health and Its Relationship with Impact Loading and the Continuity of Physical Activity throughout School Periods.

Bone is influenced by physical activity (PA) throughout life, but childhood and adolescence provide a key opportunity to maximize peak bone mass. Thus, it is important to identify the relationship between PA practiced in childhood and young adulthood to design a promotion plan for bone health. The purpose of this study was to analyze the relationship between different impact-loading PAs (and their continuity throughout school periods from childhood to young adulthood) and bone stiffness index (SI). In this cross-sectional study, which was conducted on 145 university students aged 18-21 years, bone measurements were measured by quantitative ultrasonometry (QUS), and PA information was recalled using a self-administered questionnaire. Associations between the SI and the impact of PA performed during secondary school (p = 0.027), high school (p = 0.002), and university (p = 0.016) periods were observed. The continuity of PA over a longer period of time was related to a higher SI (p = 0.007). Those who practiced PA throughout all school periods had a higher SI than those who practiced during primary school only (p = 0.038) or through primary and secondary schools (p = 0.009). These results suggest that impact-loading PA practiced during different school periods is related to higher values of the SI. Therefore, continuous PA from an early age may be an important contributing factor to achieving and maintaining adequate bone health.

Caracterización de los ancianos frágiles del Policlínico Universitario Cerro en el periodo 2017-2018 / Characterization of fragile elderly adults from Cerro Policlinic in the period 2017-2018

Introducción: la fragilidad constituye un riesgo en los adultos mayores por lo que se requiere de un diagnóstico oportuno para prevenir la discapacidad. Objetivo: caracterizar desde el punto de vista biológico, social y funcional la fragilidad en ancianos de 80 años y más. Métodos: se realizó un estudio descriptivo y transversal en el Policlínico Universitario Cerro, La Habana, en el período de enero de 2017 a enerodel 2018. El universo estuvo constituido por 421 pacientes que cumplieron los criterios de inclusión determinados por los autores; la muestra fue seleccionada por muestreo probabilístico aleatorio simple, quedando conformada por 391 pacientes. Se controlaron variables como: sexo, edad, problemas económicos, uso de medicamentos, movilidad, equilibrio y funcionabilidad. Para la obtención de la información se utilizaron las historias clínicas, así como escalas (Katz, Lawton, Tinneti, Escala Geriátrica de Evaluación Funcional. La información se procesó en una base de datos de Excel. Los resultados se reflejaron en números absolutos, porcientos, representados en tablas y gráficos. Resultados: predominó el sexo femenino (56.01 por ciento), la edad de 80-84 años (41.9 por ciento), recursos económicos regular (76.2 por ciento), más de seis medicamentos (46.5 por ciento) trastornos asociados a la movilidad (mal-76.2 por ciento), equilibrio (regular-35.8 por ciento) inactivos según actividades instrumentadas (98.67 por ciento), dependencia según actividades de la vida diaria (27.3 por ciento). Conclusiones: el sexo predispone a la fragilidad, así como la edad avanzada, bajos ingresos, alto consumo de medicamentos, dificultad en la deambulación y pérdida de la autonomía. La fragilidad genera dependencia en alto grado (AU).

Introduction: frailty constitutes a risk in elderly adults, so an opportune diagnosis is required to prevent disability. Objective: to characterize the fragility in elderly people aged 80 and older from the biological, social and functional point of view. Methods: a descriptive and cross-sectional study was carried out at Cerro Teaching Polyclinic, Havana, from January 2017 to January 2018. The universe consisted of 421 patients who met the inclusion criteria determined by the authors; the sample was selected by simple random probabilistic sampling, consisting of 391 patients. Variables were controlled such as: sex, age, economic problems, use of medications, mobility, balance and functionality. In order to obtain the information, the clinical histories and the following scales were used (Katz, Lawton, Tinneti, Geriatric Functional Evaluation Scale EGEF). The information was processed in an Excel database. The results were reflected in absolute numbers, percentages and they were represented in tables and graphs. Results: the female sex prevailed (56.01 por cent), the 80-84 age group (41.9 por cent), regular economic resources (76.2 por cent), more than six medications (46.5 por cent) disorders associated with mobility (76.2 por cent), balance (regular-35.8 por cent) inactive ones according to organized activities (98.67 por cent), dependence on daily live activities (27.3 por cent). Conclusions: sex predisposes frailty as well as advanced age, low income, high consumption of medications, difficulty walking and loss of autonomy. Fragility generated dependence in a high degree (AU).

New insights into the performance of multigene panel testing: Two novel nonsense variants in BRIP1 and TP53 in a young woman with breast cancer.

Li-Fraumeni syndrome is an autosomal-dominant disorder caused by germline mutations in the tumour suppressor gene TP53. Here we report the case of a family whose index case was a woman diagnosed with bilateral breast cancer at the age of 18 and who had a non-informative result after BRCA1 and BRCA2 testing. After extending the study through multigene panel testing, two clinically relevant variants in the TP53 and BRIP1 genes, respectively, were found. Afterwards, the patient developed a glioblastoma. Both tumours were consistent with Li-Fraumeni syndrome. Thanks to the possibility of studying different genes related with hereditary breast and ovarian cancer, it was possible to find out the gene variant that caused the early onset cancers in the patient. Furthermore, genetic counselling was provided to the index case and her family.