Clinicopathological correlates in the frontotemporal lobar degeneration-motor neuron disease spectrum.

Amyotrophic lateral sclerosis (ALS) is a devastating motor neuron disease (MND) that shares a common clinical, genetic and pathologic spectrum with frontotemporal dementia (FTD). It is highly heterogeneous in its presentation and features. Up to 50% of patients with MND develop cognitive-behavioural symptoms during the course of the disease, meeting criteria for FTD in 10%-15% of cases. In the absence of a precise biomarker, neuropathology is still a valuable tool to understand disease nosology, reach a definite diagnostic confirmation and help define specific subgroups of patients with common phenotypic, genetic and biomarker profiles. However, few neuropathological series have been published, and the frequency of frontotemporal lobar degeneration (FTLD) in MND is difficult to estimate. In this work we describe a large clinicopathological series of MND patients, analysing the frequency of concurrent FTLD changes and trying to define specific subgroups of patients based on their clinical, genetic and pathological characteristics. We performed an observational, retrospective, multicentre case study. We included all cases meeting neuropathological criteria for MND from the Neurological Tissue Bank of the FRCB-IDIBAPS-Hospital Clínic Barcelona Biobank between 1994 and 2022, regardless of their last clinical diagnosis. While brain donation is encouraged in all patients, it is performed in very few, and representativeness of the cohort might not be precise for all patients with MND. We retrospectively reviewed clinical and neuropathological data and describe the main clinical, genetic and pathogenic features, comparing neuropathologic groups between MND with and without FTLD changes and aiming to define specific subgroups. We included brain samples from 124 patients, 44 of whom (35.5%) had FTLD neuropathologic features (i.e. FTLD-MND). Pathologic TDP-43 aggregates were present in 93.6% of the cohort and were more extensive (higher Brettschneider stage) in those with concurrent FTLD (P < 0.001). Motor symptom onset was more frequent in the bulbar region in FTLD-MND cases than in those with isolated MND (P = 0.023), with no differences in survival. We observed a better clinicopathological correlation in the MND group than in the FTLD-MND group (93.8% versus 61.4%; P < 0.001). Pathogenic genetic variants were more common in the FTLD-MND group, especially C9orf72. We describe a frequency of FTLD of 35.5% in our series of neuropathologically confirmed cases of MND. The FTLD-MND spectrum is highly heterogeneous in all aspects, especially in patients with FTLD, in whom it is particularly difficult to define specific subgroups. In the absence of definite biomarkers, neuropathology remains a valuable tool for a definite diagnosis, increasing our knowledge in disease nosology.

Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis.

BACKGROUND AND OBJECTIVE: Between 5% and 10% of amyotrophic lateral sclerosis (ALS) cases have a family history of the disease, 30% of which do not have an identifiable underlying genetic cause after a comprehensive study of the known ALS-related genes. Based on a significantly increased incidence of ALS in a small geographical region from Spain, the aim of this work was to identify novel ALS-related genes in ALS cases with negative genetic testing. METHODS: We detected an increased incidence of both sporadic and, especially, familial ALS cases in a small region from Spain compared with available demographic and epidemiological data. We performed whole genome sequencing in a group of 12 patients with ALS (5 of them familial) from this unique area. We expanded the study to include affected family members and additional cases from a wider surrounding region. RESULTS: We identified a shared missense mutation (c.1586C>T; p.Pro529Leu) in the cyclic AMP regulated phosphoprotein 21 (ARPP21) gene that encodes an RNA-binding protein, in a total of 10 patients with ALS from 7 unrelated families. No mutations were found in other ALS-causing genes. CONCLUSIONS: While previous studies have dismissed a causal role of ARPP21 in ALS, our results strongly support ARPP21 as a novel ALS-causing gene.

Solitude in old age: a scoping review of conceptualisations, associated factors and impacts.

OBJECTIVE: This study aimed to map the existing scientific research about solitude in older adults, focusing on its conceptualizations, associated factors, and impacts. METHOD: A scoping review was conducted, searching Scopus, Web of Science, PubMed, and Academic Search Complete databases for publications from 1985 until December 2023. RESULTS: Twenty-four studies were included. The main findings suggest a wide-ranging conceptualisation of solitude, with most studies (n = 16) adopting neutral definitions such as "being alone, without communicating with others"; and a subset of studies adopting definitions that alluded to "positive solitude" (as the choice of being with oneself, underscoring potential benefits). Individual characteristics were identified as key associated factors of solitude. Both positive impacts and negative impacts were reported. CONCLUSION: The variability in conceptualisation and impacts likely stems from methodological and theoretical differences in approaching solitude. This underscores the need for additional research to establish a widely accepted conceptual framework. Such consensus could enhance the understanding of the conditions contributing to positive and negative impacts associated with solitude and inform targeted interventions.

"There's Still Time to be Happy": The Life Trajectories of Portuguese Transgender Women Who Transitioned at 50+ Years.

The process of transitioning involves making changes to align one's life with their authentic gender identity. This study explores the life trajectories of three Portuguese transgender women who transitioned later in life (50+ years old) by identifying key chapters in their life courses. Through inductive thematic analysis, six chapters were identified from the participants' interviews: (1) awareness of "something different in me," (2) locked into suffering, (3) finding comfort in something that is socially recognized, (4) "it is enough": it is time to recognize and embrace the woman I am, (5) living my life as a woman, and (6) building and leaving a legacy. Aging and the process of self-discovery played pivotal roles in participants' process of transitioning. The perception of finitude and the limitations associated with the time of life led them to realize that there was no time to waste and a sense of urgency to live authentically.

O processo de transição envolve mudanças para alinhar a vida com a identidade de género autêntica. Este estudo explora as trajetórias de vida de três mulheres transgénero portuguesas que fizeram a transição mais tardia (depois dos 50 anos), identificando capítulos-chave nos seus percursos de vida. Através da análise temática indutiva, foram identificados seis capítulos a partir das entrevistas dos participantes: (1) consciência de "algo diferente em mim," (2) fechada no sofrimento, (3) encontrar conforto em algo que é socialmente reconhecido, (4) "já chega:" é altura de reconhecer a mulher que sou, (5) viver a minha vida como mulher, e (6) construir e deixar um legado. O envelhecimento e o processo de autodescoberta desempenharam papéis fundamentais no processo de transição das participantes. A perceção da finitude e das limitações associadas ao tempo de vida levou-as a perceber que não havia tempo a perder, dando um sentido de urgência para viver de forma autêntica.

Next-generation sequencing reveals remarkable genetic stability in primary and corresponding recurrent intestinal-type sinonasal adenocarcinoma.

BACKGROUND: Recurrent intestinal-type sinonasal adenocarcinoma (ITAC) can occur several years after primary treatment and with different histology. We aimed to clarify if such recurrences could be second primary tumors and to identify actionable mutations as targets for personalized treatment of recurrent ITAC. METHODS: Twelve pairs of primary and recurrent ITAC were histologically examined and analyzed by next-generation sequencing. RESULTS: Histological differences between primary and recurrent tumor pairs were observed in five cases. Frequent mutations included TP53, APC, TSC2, ATM, EPHA2, BRCA2, LRP1B, KRAS, and KMT2B. There was 86% concordance of somatic mutations between the tumor pairs, while four cases carried additional mutations in the recurrence. CONCLUSIONS: We found all cases to be clonal recurrences and not second primary tumors. Moreover, tumor pairs showed a remarkable genomic stability, suggesting that personalized treatment of a recurrence may be based on actionable molecular genetic targets observed in the primary tumor.

Diagnostic performance of plasma pTau217, pTau181, Aß1-42 and Aß1-40 in the LUMIPULSE automated platform for the detection of Alzheimer disease.

BACKGROUND: Recently developed blood markers for Alzheimer's disease (AD) detection have high accuracy but usually require ultra-sensitive analytic tools not commonly available in clinical laboratories, and their performance in clinical practice is unknown. METHODS: We analyzed plasma samples from 290 consecutive participants that underwent lumbar puncture in routine clinical practice in a specialized memory clinic (66 cognitively unimpaired, 130 participants with mild cognitive impairment, and 94 with dementia). Participants were classified as amyloid positive (A +) or negative (A-) according to CSF Aß1-42/Aß1-40 ratio. Plasma pTau217, pTau181, Aß1-42 and Aß1-40 were measured in the fully-automated LUMIPULSE platform. We used linear regression to compare plasma biomarkers concentrations between A + and A- groups, evaluated Spearman's correlation between plasma and CSF and performed ROC analyses to assess their diagnostic accuracy to detect brain amyloidosis as determined by CSF Aß1-42/Aß1-40 ratio. We analyzed the concordance of pTau217 with CSF amyloidosis. RESULTS: Plasma pTau217 and pTau181 concentration were higher in A + than A- while the plasma Aß1-42/Aß1-40 ratio was lower in A + compared to A-. pTau181 and the Aß1-42/Aß1-40 ratio showed moderate correlation between plasma and CSF (Rho = 0.66 and 0.69, respectively). The areas under the ROC curve to discriminate A + from A- participants were 0.94 (95% CI 0.92-0.97) for pTau217, and 0.88 (95% CI 0.84-0.92) for both pTau181 and Aß1-42/Aß1-40. Chronic kidney disease (CKD) was related to increased plasma biomarker concentrations, but ratios were less affected. Plasma pTau217 had the highest fold change (× 3.2) and showed high predictive capability in discriminating A + from A-, having 4-7% misclassification rate. The global accuracy of plasma pTau217 using a two-threshold approach was robust in symptomatic groups, exceeding 90%. CONCLUSION: The evaluation of blood biomarkers on an automated platform exhibited high diagnostic accuracy for AD pathophysiology, and pTau217 showed excellent diagnostic accuracy to identify participants with AD in a consecutive sample representing the routine clinical practice in a specialized memory unit.

Characterization of a Preclinical In Vitro Model Derived from a SMARCA4-Mutated Sinonasal Teratocarcinosarcoma.

Sinonasal teratocarcinosarcoma (TCS) is a rare tumor that displays a variable histology with admixtures of epithelial, mesenchymal, neuroendocrine and germ cell elements. Facing a very poor prognosis, patients with TCS are in need of new options for treatment. Recently identified recurrent mutations in SMARCA4 may serve as target for modern therapies with EZH1/2 and CDK4/6 inhibitors. Here, we present the first in vitro cell line TCS627, established from a previously untreated primary TCS originating in the ethmoid sinus with invasion into the brain. The cultured cells expressed immunohistochemical markers, indicating differentiation of epithelial, neuroepithelial, sarcomatous and teratomatous components. Whole-exome sequencing revealed 99 somatic mutations including SMARCA4, ARID2, TET2, CDKN2A, WNT7A, NOTCH3 and STAG2, all present both in the primary tumor and in the cell line. Focusing on mutated SMARCA4 as the therapeutic target, growth inhibition assays showed a strong response to the CDK4/6 inhibitor palbociclib, but much less to the EZH1/2 inhibitor valemetostat. In conclusion, cell line TCS627 carries both histologic and genetic features characteristic of TCS and is a valuable model for both basic research and preclinical testing of new therapeutic options for treatment of TCS patients.

Diagnostic performance of plasma pTau 217, pTau 181, Aß 1-42 and Aß 1-40 in the LUMIPULSE automated platform for the detection of Alzheimer disease.

BACKGROUND: Recently developed blood markers for Alzheimer's disease (AD) detection have high accuracy but usually require ultra-sensitive analytic tools not commonly available in clinical laboratories, and their performance in clinical practice is unknown. METHODS: We analyzed plasma samples from 290 consecutive participants that underwent lumbar puncture in routine clinical practice in a specialized memory clinic (66 cognitively unimpaired, 130 participants with mild cognitive impairment, and 94 with dementia). Participants were classified as amyloid positive (A+) or negative (A-) according to CSF Aß1-42/Aß1-40 ratio. Plasma pTau217, pTau181, Aß1-42 and Aß1-40 were measured in the fully-automated LUMIPULSE platform. We used linear regression to compare plasma biomarkers concentrations between A + and A- groups, evaluated Spearman's correlation between plasma and CSF and performed ROC analyses to assess their diagnostic accuracy to detect brain amyloidosis as determined by CSF Aß1-42/Aß1-40 ratio. We analyzed the potential of pTau217 to predict amyloidosis in CSF. RESULTS: Plasma pTau217 and pTau181 concentration were higher in A + than A- while the plasma Aß1-42/Aß1-40 ratio was lower in A + compared to A-. pTau181 and the Aß1-42/Aß1-40 ratio showed moderate correlation between plasma and CSF (Rho = 0.66 and 0.69, respectively). The areas under the ROC curve to discriminate A + from A- participants were 0.94 (95% CI 0.92-0.97) for pTau217, and 0.88 (95% CI 0.84-0.92) for both pTau181 and Aß1-42/Aß1-40. Chronic kidney disease (CKD) was related to increased plasma biomarker concentrations, but ratios were less affected. Plasma pTau217 had the highest fold change (x4.2) and showed high predictive capability in discriminating A + from A-, having 4-7% misclassification rate. The global accuracy of plasma pTau217 using a two-threshold approach was robust in symptomatic groups, exceeding 90%. CONCLUSION: The evaluation of blood biomarkers on an automated platform exhibited high diagnostic accuracy for AD pathophysiology, and pTau217 showed excellent diagnostic accuracy to identify participants with AD in a consecutive sample representing the routine clinical practice in a specialized memory unit.

Loyola Generativity Scale e Generative Behavior Checklist: Um estudo psicométrico com idosos espanhóis LGBT+ / Loyola Generativity Scale and Generative Behavior Checklist: A Psychometric Study with Spanish LGBT+ Older Adults / Loyola Generativity Scale y Generative Behavior Checklist: Un estudio psicométrico con personas mayores españolas LGBT+

Resumo Enquadramento: A generatividade tem sido associada à resiliência e à satisfação com a vida na velhice, incluindo entre a população lésbica, gay, bissexual e transgénero (LGBT+) mais velha. Objetivo: Analisar as propriedades psicométricas da Loyola Generativity Scale (LGS) e da Generative Behavior Checklist (GBC) para idosos espanhóis LGBT + (com mais de 50 anos). Metodologia: Foi realizado um estudo psicométrico com 141 idosos espanhóis LGBT+ com o objetivo de examinar a validade de construto (análise fatorial exploratória), a validade convergente e a fiabilidade (consistência interna) da LGS e da GBC. Resultados: Os métodos de análise paralela e a análise fatorial exploratória sugeriram um modelo de dois fatores para ambos os instrumentos com boa adequação da amostra. A LGS explicou 45,1% da variância e apresentou uma consistência interna de 0,78. O GBC explicou 41,76% da variância e apresentou uma consistência interna de 0,879. Foi encontrada uma correlação positiva e estatisticamente significativa entre a satisfação com a vida e as escalas generativas. Foi também observada uma correlação positiva e significativa (rs = 0,310) entre os dois instrumentos. Conclusão: Ambos os instrumentos demonstraram ser válidos e fiáveis para medir a generatividade em idosos espanhóis LGBT+.

Abstract Background: Generativity has been associated with resilience and life satisfaction in older age, including among lesbian, gay, bisexual, and transgender (LGBT+) older adults. Objective: To examine the psychometric properties of the Loyola Generativity Scale (LGS) and Generative Behavior Checklist (GBC) for Spanish LGBT+ older adults (over the age of 50). Methodology: A psychometric study was conducted with 141 Spanish LGBT+ older adults to examine the construct validity (exploratory factor analysis), convergent validity, and reliability (internal consistency) of the LGS and the GBC. Results: Parallel and exploratory factor analyses suggested a two-factor model with good sample adequacy for both scales. The LGS explained 45.1% of the variance and had an internal consistency of 0.78. The GBC explained 41.76 % of the variance and had an internal consistency of 0.879. A positive and statistically significant correlation was found between life satisfaction and the generative scales. A positive and significant correlation (rs = 0.310) was also observed between both instruments. Conclusion: Both instruments proved valid and reliable for measuring generativity in Spanish LGBT+ older adults.

Resumen Marco contextual: La generatividad se asocia con la resiliencia y la satisfacción con la vida en la vejez, incluidas las de las personas adultas lesbianas, gays, bisexuales y transexuales (LGBT+). Objetivo: Examinar las propiedades psicométricas de la Loyola Generativity Scale (LGS) y la Generative Behavior Checklist (GBC) en adultos mayores LGBT+ españoles (mayores de 50 años). Metodología: Estudio psicométrico con 141 adultos mayores LGBT+. Se analizó la validez de constructo (análisis factorial exploratorio), la validez convergente y la consistencia interna de cada escala. Resultado: Los análisis factoriales paralelos y exploratorios sugieren un modelo bifactorial para ambas escalas con una buena adecuación a la muestra. La LGS explica el 45,1% de la varianza y tiene una consistencia interna de 0,78. La GBC explica el 41,76% de la varianza y tiene una consistencia interna de 0,879. Se encontró una correlación positiva estadísticamente significativa entre la satisfacción con la vida y las escalas de generatividad. Las dos escalas mostraron una correlación positiva y significativa (rs = 0,310). Conclusión: Ambas escalas han demostrado ser válidas y fiables para medir la generatividad en adultos mayores LGBT+ españoles.

A Sexologia e Seus Especialistas na Mídia Durante a Pandemia da Covid-19 / Sexology and Its Media Experts During the Covid-19 Pandemic / Sexología y Sus Expertos en Medios Durante la Pandemia del Covid-19

No escopo de uma pesquisa de abrangência nacional sobre práticas sexuais e gestão de risco, nos chamou atenção, na procura por materiais de mídia relacionando sexo e sexualidades com a pandemia de Covid-19, a presença majoritária de um grupo de "especialistas" ligados ao campo heterogêneo da Sexologia, tais como psicólogas, psiquiatras, urologistas, sexólogas, educadoras sexuais, associadas/os aos infectologistas. Por meio da pesquisa de palavras-chave, via buscador do Google, inventariamos um número de 44 matérias oriundas de sites de grupos jornalísticos grandes e alternativos, bem como de clínicas, associações profissionais e blogs particulares, publicadas entre março de 2020 a julho de 2021. Dessas, concentramos nossa análise em 30 matérias correspondentes àquelas veiculadas pelos grupos jornalísticos grandes e alternativos. A leitura realizada foi inspirada pela problemática da produção de objetos via práticas enunciativas e materiais, mediante as quais associações entre elementos diversos, perguntas e respostas explicitadas vão estabilizando não só os sentidos, mas os próprios objetos em disputa, no caso aqui observado, as práticas sexuais. Ao final de nosso estudo, percebeu-se que o sexo e a sexualidade produzidos pelos "especialistas" através dos canais de mídia tendem à generalização dos corpos e a descontextualização das práticas.

In the scope of a nationwide survey on sexual practices and risk management, what caught our attention, in the search for media materials relating sex and sexualities to the Covid-19 pandemic, the majority presence of a group of "specialists" linked to the heterogeneous field of Sexology, such as psychologists, psychiatrists, urologists, sexologists, sex educators, associated with infectologists. Through keyword research, via google search, we inventoried a number of 44 articles from large and alternative journalistic groups websites, as well as clinics, professional associations and private blogs, published between March 2020 and July 2021. From these, we focused our analysis on 30 articles corresponding to those published by large and alternative journalistic groups. The reading performed was inspired by the problematic of the production of objects via enunciative and material practices, through which associations between different elements, questions and explicit answers, stabilize not only the senses, but the objects in dispute, in the case observed here, sexual practices. At the end of our study, it was noticed that the sex and sexuality produced by the "specialists" through the media channels tends to the generalization of bodies and the decontextualization of practices.

En el ámbito de una encuesta a nivel nacional sobre prácticas sexuales y gestión de riesgos, lo que llamó nuestra atención, en la búsqueda de materiales mediáticos que relacionan el sexo con la pandemia de la Covid-19, destaca la presencia mayoritaria de un grupo de especialistas vinculados al heterogéneo campo de la Sexología, como psicólogos, psiquiatras, urólogos, sexólogos, y otra. A través de una investigación de palabras clave, a través de una búsqueda en Google, inventariamos una serie de 44 artículos de sitios web de grupos periodísticos grandes y alternativos, así como clínicas, asociaciones profesionales y blogs privados, publicados entre marzo de 2020 y julio de 2021. Enfocamos nuestro análisis en 30 artículos publicados por grandes y alternativos grupos periodísticos. La lectura realizada se inspiró en el problema de la producción de objetos a través de prácticas enunciativas y materiales, a través de las cuales asociaciones entre diferentes elementos, preguntas y respuestas explícitas, estabilizan no sólo los sentidos, sino los objetos en disputa, en el caso, prácticas sexuales. Al final de nuestro estudio, se percibió que el sexo y la sexualidad producidos por los especialistas tienden a la generalización de los cuerpos ya la descontextualización de las prácticas.

Family Integrity Among Older Caregivers of Relatives With Dementia / Integridade Familiar em Pessoas Idosas Cuidadores de Familiares com Demência / Integridad Familiar en Cuidadores Ancianos de Familiares con Demencia

The construct of family integrity denotes that older persons' attainment of ego integrity is linked to family relationships. Family integrity is the positive outcome (overall satisfaction with life); disconnection (dissatisfaction) and alienation (estrangement) are the negative outcomes. This study focuses on elderly people who are primary caregivers of relatives with dementia, and examines their experience of events related to that role, which are perceived as being of influence on their sense of family integrity. The sample included 26 participants. Open-ended interviews were conducted. The interview transcripts were submitted to content analysis. The main findings suggest that caregivers who experience family integrity tend to embrace the new life demand associated with the caregiving role, while those tending towards disconnection struggle to maintain their pre-existing goals, and those experiencing alienation tend to feel helpless. Caring for a relative with dementia has an impact on multiple aspects of family life...

O construto integridade familiar significa que o processo de construção da integridade do ego em pessoas idosas está associado às relações familiares. A integridade familiar (satisfação com a vida e relações familiares) é o resultado positivo; desconexão (insatisfação) e alienação (afastamento) constituem resultados negativos. O objetivo deste estudo foi investigar pessoas idosas, cuidadores primários de familiares com demência, examinando a sua experiência de eventos relacionados com esse papel, percebidos como influenciando o seu sentido de integridade familiar. A amostra compreendeu 26 participantes idosos, cuidadores de familiares com demência. Foram realizadas entrevistas abertas com roteiro semiestruturado. As transcrições das entrevistas foram submetidas a análise de conteúdo. Os principais resultados sugerem que os cuidadores no caminho da integridade familiar reveem os seus projetos de vida anteriores, enquanto aqueles em desconexão lutam para manter os projetos anteriores e aqueles na via de alienação tendem a abandonar os projetos. Cuidar de um familiar com demência apresenta múltiplos impactos na vida familiar...

El constructo de la integridad familiar indica que la construcción de la integridad del yo en ancianos está vinculada a las relaciones familiares. La integridad familiar (satisfacción con la vida y las relaciones familiares) es positivo; desconexión (insatisfacción) y la alienación (sensación de lejanía) son negativos. Este estudio centra ancianos cuidadores primarios de familiares con demencia, y examina su experiencia de acontecimientos relacionados con esa función, percibido como influido la construcción de integridad familiar. La muestra consta de 26 participantes. Entrevistas abiertas con rutero semiestructurado se realizaron. Las transcripciones fueran sometidas a análisis de contenido. Los principales resultados indican que los cuidadores en integridad hacen la revisión de proyectos de vida; aquellos en desconexión luchan para mantener los proyectos anteriores; y aquellos en alienación tienden a abandonar los proyectos de vida. El cuidado de un familiar con demencia es una tarea compleja, con múltiples impactos que necesitan más atención...

Dinamizar os parques da cidade através de atividades intergeracionais: o Parque Infante Dom Pedro, cidade de Aveiro, Portugal / Revitalizing city parks through intergenerational activities: the Park Infante Dom Pedro, city of Aveiro, Portugal

Os programas intergeracionais (PI) são ferramentas mobilizadoras da comunidade, baseadas num processo humano básico que combina gerações para alcançar um bem comum. O Parque Infante D. Pedro (Aveiro, Portugal) foi até aos anos 1980/90 um lugar privilegiado de convívio, mas atualmente é um espaço negligenciado. O projeto Parque = Lugar com História(s) e Natureza para Socializar (P=LHNS) dinamizou esse espaço público através da promoção de atividades intra e intergerações.

Intergenerational programmes (IP) are a useful community mobilising tool, established in a basic human process that connects generations for a common good. The Infante D. Pedro Park (Aveiro, Portugal) was a privileged place for conviviality until the 1980/90, but currently it is a neglected place. The project Park = Place with Stories and Nature for Socializing (P=LHNS) has revitalized this public space by promoting intra and intergenerational activities.

Apoio psicoeducativo a cuidadores familiares e formais de pessoas idosas com demência / Psycho-educational support to family and formal caregivers of older people with dementia

O aumento da incidência da demência coloca vários desafios às redes de suporte familiar e formal da pessoa doente. A sintomatologia da demência impõe aos cuidadores familiares e formais exigências que afetam o seu bem-estar. As abordagens psicoeducativas afiguram-se como intervenções promissoras na redução do stress e burnout destes cuidadores. Este artigo descreve a experiência de dois programas de apoio psicoeducativo para cuidadores familiares e formais de pessoas com demência. Os principais resultados são descritos, apresentando implicações para o desenvolvimento de novas práticas de intervenção na rede de suporte.

The growing incidence of dementia poses several challenges to the social support networks of people with dementia. Managing the symptoms of the disease is highly demanding and affects the well-being of the caregivers. Psycho-educational approaches have the potential to reduce the stress and burnout related to dementia caregiving demands. This paper describes the experience of two psycho-educational programs for family and formal caregivers. Main results are reported and recommendations for further intervention developments are identified.

Síndrome de Freeman-Sheldon. Revisión bibliográfica / Freeman-Sheldon syndrome. A bibliographic review

Se realiza una revisión bibliográfica actualizada sobre las peculiaridades clínicas de la displasia craneocarpotarsal o síndrome de Freeman-Sheldon. Los hallazgos característicos de este síndrome se presentan en el nacimiento, con predominio de anomalías musculoesqueléticas, cuyos signos relevantes fueron la microstomía, la hipoplasia del tercio medio de la cara y el surco en forma de H en el mentón, signo patognómico. El diagnóstico de esta afección se efectúa por los hallazgos faciales y de los miembros; de mucha utilidad resultaron los estudios radiográficos de cráneo, la biopsia del músculo buccinador y los estudios electromiográficos. El tratamiento quirúrgico se indica para mejorar la apariencia facial y la función de las manos y de los pies. Se profundiza en los aspectos clínicos, diagnóstico y terapéuticos de esta enfermedad

Niveles de inmunoglobulinas IgA e IgM en recién nacidos y correlación con infección congénita / IgA and IgM inmunoglobulin levels in neonates and their correlation with congenital infection

Se realizó un estudio analítico y prospectivo en 600 recién nacidos, de los niveles sanguíneos de IgM e IgA y su relación con el riesgo de infección congénita. Se encontró elevada la IgM en 10 neonatos (1,7 por ciento) y la IgA en 18 (3 por ciento). Se halló una buena correlación (OR) y significancia estadítica de IgM e IgA elevadas en los neonatos cuyas madres tuvieron líquido amniótico calientes y/o fétido, ruptura de las membranas de más de 24 horas y fiebre intraparto. También hubo una buena correlación (OR) y significancia de las Igs elevadas en neonatos con bronconeumonía y sepsis generalizada congénita. De los cultivos bacteriológicos existió una buena correlación (OR) y significancia estadística en el hemocultivo y exudado faríngeo y las Igs elevadas y el residuo gástrico con la IgM elevadas. Las bacterias grampositivas y gramnegativas aisladas en los neonatos tuvieron buena correlación (OR) y significancia estadística, excepto para la IgA en las bacterias gramnegativas. Los 4 neonatos fallecidos por infección congénita tuvieron IgM elevadas

Mioblastoma de células granulosas de la base de la lengua en el recién nacido / Granular cell myoblastoma of the base of the tongue in the newborn infant

Se realiza una revisión bibliográfica del mioblastoma de células granulosas de la lengua, sus características clínicas y diagnóstico diferencial. Se hace énfasis en la posibilidad real de su presentación frente a un síndrome de dificultad respiratoria del recién nacido. Se presenta a un enfermo con estas características, el cual fue intervenido quirúrgicamente por un grupo multidisciplinario en nuestra institución. El paciente tuvo una evolución posoperatoria libre de complicaciones y se le dio de alta curado