Nutrition and Outcome of 100 Endoscopic Gastrostomy-Fed Citizens with Severe Dementia.

Dementia is a rising public health concern. Feeding and nutritional problems increase as the disease progresses, affecting the clinical course and caregiver burden. While some guidelines advise against percutaneous endoscopic gastrostomy (PEG) and tube feeding in advanced dementia, conflicting evidence exists. This study aims to evaluate the nutritional status and influence of PEG feeding on the outcome and evolution of nutritional/prognosis markers of patients with severe dementia (PWSD) who underwent gastrostomy for nutritional support. We conducted a 16-year retrospective study on 100 PEG-fed PWSD with strong familial support. We evaluated the survival PEG-feeding period, safety, and objective nutritional/prognosis data on the gastrostomy day and after 3 months: Body Mass Index (BMI), Mid Upper Arm Circumference, Tricipital Skinfold, Mid-Arm Muscle Circumference, albumin, transferrin, total cholesterol, and hemoglobin. Most patients presented low values in these nutritional/prognosis parameters. No major life-threatening PEG complications were reported. The mean survival time after gastrostomy was 27.9 months (median of 17 months). Female sex, BMI recovery at 3 months, and higher baseline hemoglobin levels were associated with a reduced risk of death and increased survival time. The study concluded that, in carefully selected PWSD with strong familial support, PEG feeding can improve nutritional status and have a positive impact on survival.

Lisbon Intensive Falls Trampoline Training (LIFTT) Program for people with Parkinson's for balance, gait, and falls: study protocol for a randomized controlled trial.

BACKGROUND: Falling and gait difficulties in people with Parkinson's disease (PD) are associated with impaired reactive postural adjustments and impairments in attentional resources. Combined intensive balance motor and cognitive exercise can be beneficial. However, uncertainties persist regarding the true effects and safety when applying such training. Using trampoline beds may be a favorable safe environment for a highly intensive, cognitive, and balancing training approach. The primary goal of this randomized controlled trial is to assess the effects of an intensive cognitive-motor training program in a safe trampoline environment in addition to usual care on balance impairment, gait, physical capacity, fear of falling, falls frequency and severity, cognition, and clinical impairments in people with mild or moderate PD. METHODS: Sixty participants diagnosed with idiopathic PD, in stage 2-4 Hoehn and Yahr, with a clinical history of gait deficits and a fall history (at least one fall in the last 6 months) will be recruited and randomly allocated to an intervention group receiving cognitive-motor trampoline training or a control group undergoing their usual care. The intervention will consist of 8-week individual training sessions (1-h training, 3 days per week) led by specialized physiotherapists that will provide progressive, challenging training, and guarantee safety. Assessment will be conducted prior to and immediately after the 8-week intervention and at 3 months follow-up after participating in the study. Primary outcome measures will be balance performance (assessed using the Mini-BEST Test and nonlinear analysis) and change in gait parameters (Motor and Cognitive Timed-Up-Go and nonlinear analysis). Secondary outcomes will be change in clinical improvement (Movement Disorder Society Unified Parkinson's Disease Rating Scale), falls (falls weekly registry), fear of falling (assessed using the Falls Efficacy Scale), physical capacity (6-min walk test), and cognition (Montreal Cognitive Assessment). DISCUSSION: This study will provide new evidence on the benefits of intensive cognitive-motor balance training on a trampoline for people living with PD. Better guidance on how professionals can apply safer dual-task balance and gait training in rehabilitation is needed. TRIAL REGISTRATION: ISRCTN Registry ISRCTN13160409 . Retrospectively registered on February 23, 2022.

An Argument in Favor of Deep Brain Stimulation for Uncommon Movement Disorders: The Case for N-of-1 Trials in Holmes Tremor.

Deep brain stimulation (DBS) is part of state-of-the-art treatment for medically refractory Parkinson's disease, essential tremor or primary dystonia. However, there are multiple movement disorders that present after a static brain lesion and that are frequently refractory to medical treatment. Using Holmes tremor (HT) as an example, we discuss the effectiveness of currently available treatments and, performing simulations using a Markov Chain approach, propose that DBS with iterative parameter optimization is expected to be more effective than an approach based on sequential trials of pharmacological agents. Since, in DBS studies for HT, the thalamus is a frequently chosen target, using data from previous studies of lesion connectivity mapping in HT, we compared the connectivity of thalamic and non-thalamic targets with a proxy of the HT network, and found a significantly higher connectivity of thalamic DBS targets in HT. The understanding of brain networks provided by analysis of functional connectivity may thus provide an informed framework for proper surgical targeting of individual patients. Based on these findings, we argue that there is an ethical imperative to at least consider surgical options in patients with uncommon movement disorders, while simultaneously providing consistent information regarding the expected effectiveness and risks, even in a scenario of surgical-risk aversion. An approach based on n-of-1 DBS trials may ultimately significantly improve outcomes while informing on optimal therapeutic targets and parameter settings for HT and other disabling and rare movement disorders.

Addressing Ageism-Be Active in Aging: Study Protocol.

Ageism refers to stereotyping (how we think), prejudice (how we feel), and discrimination (how we act) against people based on their age. It is a serious public health issue that can negatively impact older people's health and quality of life. The present protocol has several goals: (1) adapt the Ambivalent Ageism Scale for the general Portuguese population and healthcare professionals; (2) assess the factorial invariance of the questionnaire between general population vs. healthcare professionals; (3) evaluate the level of ageism and its predictors in the general population and evaluate the level of ageism and its predictors in healthcare professionals; (4) compare the levels of ageism between groups and the invariance between groups regarding the explanatory model of predictors of ageism. This quantitative, cross-sectional, descriptive, observational study will be developed in partnership with several Healthcare Professional Boards/Associations, National Geriatrics and Gerontology Associations, and the Universities of the Third Age Network Association. The web-based survey will be conducted on a convenience sample recruited via various social media and institutional channels. The survey consists of three questionnaires: (1) Demographic data; (2) Ambivalent Ageism Scale; (3) Palmore-Neri and Cachioni questionnaire. The methodology of this study will include translation, pilot testing, semantic adjustment, exploratory and confirmatory factor analysis, and multigroup analysis of the Ambivalent Ageism Scale. Data will be treated using International Business Machines Corporation (IBM®) Statistical Package for the Social Sciences (SPSS) software and Analysis of Moment Structures (AMOS). Descriptive analysis will be conducted to assess the level of ageism in the study sample. The ageism levels between the two groups will be compared using the t-student test, and two Structural Equation Modeling will be developed to evaluate the predictors of ageism. Assessing ageism is necessary to allow healthcare professionals and policymakers to design and implement strategies to solve or reduce this issue. Findings from this study will generate knowledge relevant to healthcare and medical courses along with anti-ageism education for the Portuguese population.

Endoscopic gastrostomy for nutritional support in post-stroke dysphagia.

INTRODUCTION: Introduction: persistent dysphagia affects 15 % of stroke patients and contributes to malnutrition, aspiration, and death. This study aimed to characterize patients with post-stroke dysphagia who underwent percutaneous endoscopic gastrostomy (PEG), and to assess the impact of PEG feeding on nutritional status and outcome. Methods: an observational and retrospective study using records from patients with post-stroke dysphagia who underwent PEG. Body mass index (BMI), serum albumin, transferrin, and cholesterol were recorded at the time of PEG insertion (T0) and 3 months later (T3). The evolution of these parameters was analyzed and compared to survival. Results: we obtained data from 158 patients (53.2 % males) with a median age of 75 years. Most strokes were ischemic (n = 135, 85.4 %). Median time between stroke and PEG was 2 months. Median survival after gastrostomy was 16 months. At admission, 41.6 % of patients had low BMI, 62.3 % low albumin, 68.6 % low transferrin, and 59.6 % low cholesterol levels. The prevalence of low albumin and low transferrin was higher in the patients who underwent PEG more than 2 months after stroke. A significant increase in albumin and transferrin, and a normalization of cholesterol levels was observed after 3 months of PEG feeding. Mortality was 12.9 %, 27.7 %, and 40 % at 1, 3, and 12 months, respectively. Survival was lower in patients with low albumin, transferrin or total cholesterol at admission. Conclusions: the prevalence of malnutrition is high among patients with post-stroke dysphagia. PEG feeding improves albumin, transferrin, and cholesterol levels. Early post-PEG mortality is high and must be considered on an individual basis.

INTRODUCCIÓN: Introducción: la disfagia persistente afecta al 15 % de los pacientes con accidente cerebrovascular (AVC) y contribuye a producir desnutrición, aspiración y muerte. Este estudio tuvo como objetivo caracterizar a los pacientes con disfagia post-AVC sometidos a gastrostomía endoscópica percutánea (PEG) y evaluar el impacto de la alimentación con PEG sobre el estado nutricional. Métodos: estudio observacional y retrospectivo que utiliza registros de pacientes con disfagia post-AVC sometidos a PEG. El índice de masa corporal (IMC) y los niveles de albúmina, transferrina y colesterol séricos se registraron en el momento de la inserción de la PEG (T0) y 3 meses después (T3). La evolución de estos parámetros se analizó y comparó con la supervivencia. Resultados: se obtuvieron datos de 158 pacientes (53,2 % hombres) con una edad media de 75 años. La mayoría de los AVC fueron isquémicos (n = 135, 85,4 %). El tiempo medio entre el AVC y la PEG fue de 2 meses. La supervivencia media después de la gastrostomía fue de 16 meses. Al ingreso, el 41,6 % de los pacientes presentaba un IMC bajo, el 62,3 % un nivel bajo de albúmina, el 68,6 % un nivel bajo de transferrina y el 59,6 % un nivel bajo de colesterol. La prevalencia de los niveles bajos de albúmina y de transferrina fue mayor en los pacientes que se sometieron a la PEG más de 2 meses después del AVC. Se observó un aumento significativo de la albúmina y la transferrina, y una normalización de los niveles de colesterol, después de 3 meses de alimentación con PEG. La mortalidad fue del 12,9 %, 27,7 % y 40 % a 1, 3 y 12 meses, respectivamente. La supervivencia fue menor en los pacientes con nivel bajo de albúmina, transferrina o colesterol total al ingreso. Conclusiones: la prevalencia de la malnutrición es alta entre los pacientes con disfagia post-AVC. La alimentación con PEG mejora los niveles de albúmina, transferrina y colesterol. La mortalidad temprana post-PEG es alta y debe considerarse de forma individual.

[Portuguese Consensus on the Diagnosis and Management of Lewy Body Dementia (PORTUCALE)]. / Consenso Português para o Diagnóstico e Gestão Clínica da Demência com Corpos de Lewy (PORTUCALE).

Lewy body dementia is a common cause of dementia leading to the progressive deterioration of cognitive function and motor skills, behavioral changes, and loss of autonomy, impairing the quality of life of patients and their families. Even though it is the second leading cause of neurodegenerative dementia, diagnosis is still challenging, due to its heterogenous clinical presentation, especially in the early stages of the disease. Accordingly, Lewy body dementia is often misdiagnosed and clinically mismanaged. The lack of diagnostic accuracy has important implications for patients, given their increased susceptibility to the adverse effects of certain drugs, such as antipsychotics, which may worsen some symptoms associated with Lewy body dementia. Therefore, a specialist consensus based on the analysis of the most updated and relevant literature, and on clinical experience, is useful to all professionals involved in the care of these patients. This work aims to inform and provide recommendations about the best diagnostic and therapeutic approaches in Lewy body dementia in Portugal. Moreover, we suggest some strategies in order to raise the awareness of physicians, policy makers, and the society at large regarding this disease.

A demência com corpos de Lewy é uma causa comum de demência, provocando a perda progressiva de funções cognitivas e capacidades motoras, alterações comportamentais, e perda de autonomia, com compromisso da qualidade de vida dos doentes e seus familiares. Apesar de ser a segunda causa mais frequente de demência neurodegenerativa, o diagnóstico mantém-se um desafio, devido à sua apresentação clínica heterogénea, sobretudo nas fases iniciais da doença. Por conseguinte, a demência com corpos de Lewy é frequentemente mal diagnosticada e clinicamente gerida de forma insuficiente. A falta de acuidade diagnóstica tem implicações significativas para os doentes, dada a maior suscetibilidade aos efeitos adversos de determinados fármacos, tais como os antipsicóticos, que podem agravar alguns sintomas associados à demência com corpos de Lewy. Por conseguinte, um consenso de especialistas, baseado na análise da literatura mais atual e relevante, e na experiência clínica, é útil para todos os profissionais envolvidos no cuidado destes doentes. O objetivo deste trabalho é informar e gerar recomendações acerca das melhores abordagens diagnóstica e terapêutica da demência com corpos de Lewy em Portugal. Além disso, sugerimos estratégias para aumentar a sensibilização dos médicos, dos decisores políticos e da sociedade em geral em relação a esta doença.

Familial cerebral cavernous malformation: Report of a novel KRIT1 mutation in a Portuguese family.

Cerebral cavernous malformations (CCMs) are vascular malformations which may occur in familial forms which have autosomal dominant inheritance. Mutations have been identified in three genes: KRIT1, MGC4607 and PDCD10. We have documented a novel mutation on KRIT1 gene, and the second to be reported in a Portuguese family. This mutation consists in a two nucleotide insertion (c.947_948insAC) within the exon 10, resulting in premature protein termination (p.Leu317Argfs*2). These findings will hopefully contribute to a better clinical, imaging and genetic characterisation of this disease, particularly while trying to identify the factors that influence its treatment and prognosis.

Enteral feeding through endoscopic gastrostomy in amyotrophic lateral sclerosis patients.

BACKGROUND: Dysphagia is common in amyotrophic lateral sclerosis (ALS) and may result in malnutrition. Endoscopic gastrostomy (PEG) is recommended when oral feeding is unsafe. This work aims to assess the effectiveness and safety of PEG feeding on improving nutritional and prognostic parameters in ALS patients. METHODS: Observational and retrospective study using records from ALS patients referred for gastrostomy. Age, gender and mortality data were collected. NRS 2002, body mass index (BMI), serum albumin, transferrin and total cholesterol were recorded at the time of PEG (T0) and repeated after 3 months (T3). The evolution of these parameters was analysed and compared to survival. RESULTS: Data from 37 ALS patients (18 men/19 women) aged 43-88 years (mean: 69 years). All patients presented NRS 2002 ≥ 3 points. On average, patients underwent gastrostomy 11 months after diagnosis. No major procedural complications occurred. Mean survival after diagnosis was 22.2 months. Mortality rate at 3 months was 21.6% with a mean survival after PEG of 11.2 months. Albumin, transferrin and cholesterol levels increased from T0 to T3 without reaching statistical significance. Higher albumin (R = 0.3) and transferrin (R = 0.4) at admission tend to be positively correlated with survival. Mean BMI was similar at the two moments but higher initial values were associated with better outcome (R2 = 0.39, p < 0.05). CONCLUSIONS: PEG is a safe and effective technique for enteral feeding and should be considered early in ALS patients with dysphagia. Higher BMI predicts longer survival. The association between higher serum proteins and survival must be confirmed in further studies.