Abstract Objective: Hip fractures in older adults have the highest impact on the patient’s health. These injuries result in many complications, reducing functional capability, quality of life, and life expectancy. This study aimed to provide more epidemiological data on the outcomes of these fractures in nonagenarians from a large city treated at a tertiary hospital. Methods: This study consisted of medical record reviews and interviews. Results: In this study, 76 patients underwent 82 surgeries. The mean age of the patients was 92.5 years. Ninety percent of the subjects were female. The patients spent 10.4 days in hospital. Surgery occurred on average 2.3 days after hospitalization. Regarding fractures, 46 were trochanteric (56%), and 34 affected the femoral neck (41.5%). Forty-one surgeries used the short proximal femoral nail (50%), and 18 were partial hip replacements (22%). During hospitalization, 46 patients (55%) had no complications, excluding episodes of delirium, and seven patients (9%) died. Forty-two subjects completed the one-year postoperative follow-up period, with 56% alive and 44% dead. Conclusions: Treating hip fractures in older patients is challenging. Our goal must focus on helping these subjects receive the quickest and least aggressive treatment possible and start mobilization early. We hope the data presented in this study can lead to a better understanding of the characteristics of our nonagenarian population with hip fractures and seek the best possible treatment for them. Objective patient s health complications capability expectancy hospital Methods interviews Results 7 8 925 92 5 92. years female 104 10 4 10. 23 2 3 2. hospitalization 56%, 56 , (56%) 41.5%. 415 41.5% . 41 (41.5%) Fortyone Forty one 50%, 50 50% (50%) 1 22%. 22 22% (22%) 55% 55 (55% delirium 9% 9 (9% died Fortytwo two oneyear year followup follow up period 44 dead Conclusions challenging early them (56% 41.5 (41.5% (50% (22% (55 (9 (56 41. (41.5 (50 (22 (5 ( (41. (2 (41 (4

Resumo Objetivo: As fraturas de quadril em idosos são as que mais impactam na saúde do paciente e estão associadas a muitas complicações, levando a redução da capacidade funcional, da qualidade de vida e da expectativa de vida. O nosso trabalho visa trazer mais dados epidemiológicos sobre os desfechos dessas fraturas em nonagenários em uma grande cidade atendidos em um hospital terciário. Métodos: O trabalho foi realizado através de revisão de prontuários e entrevistas. Resultados: Foram realizadas 82 cirurgias em 76 pacientes nesse período. A média de idade foi de 92,5 anos, 90% eram mulheres e ficaram 10,4 dias internados. A cirurgia foi realizada em média 2,3 dias após a internação. Do total, 46 fraturas foram trocantéricas (56%) e 34 do colo do fêmur (41,5%). Foram realizadas 41 cirurgias com a técnica da haste cefalomedular curta (50%) e 18 artroplastias parcial de quadril (22%). Durante a internação, 46 pacientes (55%) não apresentaram complicações, excluindo episódios de delirium, e 7 pacientes (9% dos casos) evoluíram para óbito. 42 pacientes já fecharam 1 ano após cirurgia: 56% estão vivos e 44% evoluíram para óbito. Conclusões: O tratamento de fraturas de quadril em pacientes idosos é desafiador. O nosso objetivo deve estar focado em ajudar esses idosos a receber um tratamento rápido e menos agressivo possível e a mobilizar precocemente. Esperamos que, com os dados apresentados nesse trabalho, possamos entender melhor acerca das características da nossa população nonagenária vítimas de fratura de quadril e buscar o melhor tratamento possível para esses pacientes. Objetivo complicações funcional terciário Métodos entrevistas Resultados 8 período 925 92 5 92, anos 90 104 10 4 10, internados 23 2 3 2, internação total 56 (56% 41,5%. 415 41,5% . (41,5%) 50% 50 (50% 22%. 22 22% (22%) 55% 55 (55% delirium 9% 9 (9 casos óbito 44 Conclusões desafiador precocemente (56 41,5 (41,5% (50 (22% (55 ( (5 41, (41,5 (22 (41, (2 (41 (4

Abstract Objective: To describe the speech pattern of patients with hereditary Spastic Paraplegia type 4 (SPG4) and correlated it with their clinical data. Methods: Cross-sectional study was carried out in two university hospitals in Brazil. Two groups participated in the study: the case group (n = 28) with a confirmed genetic diagnosis for SPG4 and a control group (n = 17) matched for sex and age. The speech assessment of both groups included: speech task recording, acoustic analysis, and auditory-perceptual analysis. In addition, disease severity was assessed with the Spastic Paraplegia Rating Scale (SPRS). Results: In the auditory-perceptual analysis, 53.5% (n = 15) of individuals with SPG4 were dysarthric, with mild to moderate changes in the subsystems of phonation and articulation. On acoustic analysis, SPG4 subjects’ performances were worse in measurements related to breathing (maximum phonation time) and articulation (speech rate, articulation rate). The articulation variables (speech rate, articulation rate) are related to the age of onset of the first motor symptom. Conclusion: Dysarthria in SPG4 is frequent and mild, and it did not evolve in conjunction with more advanced motor diseases. This data suggest that diagnosed patients should be screened and referred for speech therapy evaluation and those pathophysiological mechanisms of speech involvement may differ from the length-dependent degeneration of the corticospinal tract. Objective SPG (SPG4 Methods Crosssectional Cross sectional Brazil n 28 17 included recording analysis auditoryperceptual auditory perceptual addition SPRS. SPRS . (SPRS) Results 535 53 5 53.5 15 dysarthric subjects maximum time rate rate. symptom Conclusion diseases lengthdependent length dependent tract (SPG 2 1 (SPRS 53.

RESUMO As paraparesias espásticas hereditárias (PEH) são um grupo de doenças genéticas caracterizado por espasticidade dos membros inferiores com ou sem características neurológicas adicionais. A disfunção da deglutição é pouco estudada nas PEH e sua presença pode levar a complicações respiratórias e nutricionais significativas. Objetivo: O objetivo deste estudo foi avaliar a frequência e a caracterização clínica da disfagia em diferentes tipos de PEH. Métodos: Foi realizado um estudo transversal em dois centros. Os pacientes com PEH confirmados geneticamente foram avaliados pelo Northwestern Dysphagia Patient Check Sheet e pela Escala Funcional de Ingestão Oral. Além disso, a autopercepção da disfagia foi avaliada pelo Eat Assessment Tool-10 e pelo Swallowing Disturbance Questionnaire. Resultados: Trinta e seis pacientes com paraplegia espástica tipo 4 (SPG4), cinco com SPG11, quatro com SPG5, quatro com xantomatose cerebrotendinosa (CTX), três com SPG7 e dois com SPG3A foram avaliados. Disfagia orofaríngea leve a moderada estava presente em 3/5 (60%) dos pacientes com SPG11 e 2/4 (50%) dos pacientes com CTX. Um único SPG4 (2%) e um único SPG7 (33%) apresentaram disfagia orofaríngea leve. Todos os outros pacientes avaliados apresentaram deglutição normal ou funcional. Conclusão: Disfagia orofaríngea clinicamente significativa estava presente apenas nas formas complicadas de PEH. A SPG11 e CTX apresentaram maiores riscos de disfagia, sugerindo que a avaliação da deglutição deve fazer parte do manejo dos pacientes com essas condições.

ABSTRACT Hereditary spastic paraplegias (HSP) are a group of genetic diseases characterized by lower limb spasticity with or without additional neurological features. Swallowing dysfunction is poorly studied in HSP and its presence can lead to significant respiratory and nutritional complications. Objectives: The aim of this study was to evaluate the frequency and clinical characteristics of dysphagia in different types of HSP. Methods: A two-center cross-sectional prevalence study was performed. Genetically confirmed HSP patients were evaluated using the Northwestern Dysphagia Patient Check Sheet and the Functional Oral Intake Scale. In addition, self-perception of dysphagia was assessed by the Eat Assessment Tool-10 and the Swallowing Disturbance Questionnaire. Results: Thirty-six patients with spastic paraplegia type 4 (SPG4), five with SPG11, four with SPG5, four with cerebrotendinous xanthomatosis (CTX), three with SPG7, and two with SPG3A were evaluated. Mild to moderate oropharyngeal dysphagia was present in 3/5 (60%) of SPG11 and 2/4 (50%) of CTX patients. A single SPG4 (2%) and a single SPG7 (33%) patient had mild oropharyngeal dysphagia. All other evaluated patients presented with normal or functional swallowing. Conclusions: Clinically significant oropharyngeal dysphagia was only present in complicated forms of HSP Patients with SPG11 and CTX had the highest risks for dysphagia, suggesting that surveillance of swallowing function should be part of the management of patients with these disorders.

RESUMO A ataxia espástica autossômica recessiva de Charlevoix-Saguenay (ARSACS) é uma doença neurodegenerativa de início precoce causada por mutações no gene SACS que foi inicialmente descrita na região de Quebec, Canadá. A apresentação típica de ARSACS é caracterizada por ataxia, espasticidade, polineuropatia e hipermielinização das fibras nervosas da retina de início infantil. No presente artigo, descrevemos os achados clínicos e neurorradiológicos que levaram à suspeita de ARSACS em duas primas descendentes de alemães naturais do Rio Grande do Sul, Brasil e revisamos os achados de neuroimagem, oftalmológicos e neurofisiológicos de ARSACS. O fenótipo de ataxia-espástica de início infantil precoce apresentado pelas pacientes era similar ao classicamente descrito em Quebec. O sequenciamento do SACS revelou a mutação nova c.5150_5151insA (mudança na matriz de leitura), em homozigose, confirmando o diagnóstico de ARSACS. A ARSACS é uma causa frequente de ataxia/ataxia-espástica de início precoce mundialmente, entretanto sua frequência é desconhecida no Brasil.

ABSTRACT Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal hypermyelination. The clinical picture of patients born outside Quebec, however, is often atypical. In the present article, the authors describe clinical and neuroradiological findings that raised the suspicion of an ARSACS diagnosis in two female cousins with Germanic background from Rio Grande do Sul, Brazil. We present a review on the neuroimaging, ophthalmologic and neurophysiologic clues for ARSACS diagnosis. The early-onset, slowly progressive, spastic-ataxia phenotype of reported patients was similar to ARSACS patients from Quebec. The SACS sequencing revealed the novel homozygous c.5150_5151insA frameshift mutation confirming the ARSACS diagnosis. ARSACS is a frequent cause of early onset ataxia/spastic-ataxia worldwide, with unknown frequency in Brazil.