3D Kinematics Quantifies Gait Response to Levodopa earlier and to a more Comprehensive Extent than the MDS-Unified Parkinson's Disease Rating Scale in Patients with Motor Complications.

BACKGROUND: Quantitative 3D movement analysis using inertial measurement units (IMUs) allows for a more detailed characterization of motor patterns than clinical assessment alone. It is essential to discriminate between gait features that are responsive or unresponsive to current therapies to better understand the underlying pathophysiological basis and identify potential therapeutic strategies. OBJECTIVES: This study aims to characterize the responsiveness and temporal evolution of different gait subcomponents in Parkinson's disease (PD) patients in their OFF and various ON states following levodopa administration, utilizing both wearable sensors and the gold-standard MDS-UPDRS motor part III. METHODS: Seventeen PD patients were assessed while wearing a full-body set of 15 IMUs in their OFF state and at 20-minute intervals following the administration of a supra-threshold levodopa dose. Gait was reconstructed using a biomechanical model of the human body to quantify how each feature was modulated. Comparisons with non-PD control subjects were conducted in parallel. RESULTS: Significant motor changes were observed in both the upper and lower limbs according to the MDS-UPDRS III, 40 minutes after levodopa intake. IMU-assisted 3D kinematics detected significant motor alterations as early as 20 minutes after levodopa administration, particularly in upper limbs metrics. Although all "pace-domain" gait features showed significant improvement in the Best-ON state, most rhythmicity, asymmetry, and variability features did not. CONCLUSION: IMUs are capable of detecting motor alterations earlier and in a more comprehensive manner than the MDS-UPDRS III. The upper limbs respond more rapidly to levodopa, possibly reflecting distinct thresholds to levodopa across striatal regions.

Spectrum of cutaneous lesions in a cohort of patients with neurofibromatosis type 2.

BACKGROUND: Neurofibromatosis type 2 (NF2) is a rare autosomal dominant syndrome with a predisposition to the development of central nervous system tumors, ophthalmic manifestations, and dermatological lesions. The latter are present in 70-95% of patients and can precede the evolution of other tumors. However, they are not included in the diagnostic criteria and are frequently undervalued during follow-up. METHODS: An observational cross-sectional study characterizing cutaneous lesions in a cohort of NF2 patients was carried out. Dermatological examinations were performed, and lesions were classified into neural cutaneous tumors (superficial, SNCT, and deep, DNCT), hyperpigmented patches (HyperP), and hypopigmented patches (HypoP). The Dermatology Life Quality Index (DLQI) and EQ-5D questionnaires were applied to evaluate the impact on quality of life. RESULTS: Nineteen patients with a mean age of 36 years were included. Sixteen (84%) patients had cutaneous lesions, mostly developed 10 or more years before the diagnosis. SNCT, DNCT, and HyperP showed similar frequencies (58%). HypoP were observed in only one patient. HyperP developed, on average, earlier than NCT (9.6 vs. 16.5 SNCT, 17.0 DNCT; years). The excised lesions had different histological patterns, including neurofibromas, schwannomas, and a hybrid tumor. Most patients reported a low impact of cutaneous manifestations on the quality of life (DLQI 0 or 1). CONCLUSIONS: Cutaneous lesions are frequent in NF2 and may precede the diagnosis by several years. Their identification is important to establish the diagnosis earlier and potentially reduce morbidity and mortality.

Ruptura esplênica secundária à infeção por Plasmodium falciparum / Splenic rupture secondary to Plasmodium falciparum infection

A ruptura esplênica é uma complicação possível da malária. É importante pela dificuldade diagnóstica, pois um elevado índice de suspeição é necessário para um diagnóstico atempado. Pode condicionar uma hemorragia intraperitoneal e deve ser considerada no diagnóstico diferencial de quadros de dor abdominal, hipotensão e diminuição do hematócrito. Os autores descrevem o caso de um homem de 59 anos, com ruptura esplênica secundária à malária por Plasmodium falciparum, tendo realizado esplenectomia urgente. Com a apresentação do caso, os autores pretendem chamar a atenção para a necessidade de incluir esta afecção no diagnóstico diferencial dos doentes com malária e hipotensão refractária.

Splenic rupture is a possible complication of malaria. Due to its difficult diagnosis, it is important, because a high level of suspicion is needed for a timely diagnosis. It results in intraperitoneal bleeding and should be considered in the differential diagnosis of abdominal pain, hypotension and low hematocrit. The authors report the case of a 59-year old man with splenic rupture secondary to malarial infection by Plasmodium Falciparum, who was treated with urgent splenectomy. This case is presented to remind the clinicians of include this entity in the differential diagnosis of patients with malaria and refractory hypotension.

Action verbal fluency in Parkinson’s patients / Fluência verbal de ação em pacientes com doença de Parkinson

We compared the performance of 31 non-demented Parkinson´s disease (PD) patients to 61 healthy controls in an action verbal fluency task. Semantic and phonemic fluencies, cognitive impairment and behavioural dysfunction were also assessed. The mean disease duration of PD was 9.8 years (standard deviation (SD) = 6.13). There were no age (U = 899.5, p = 0.616), gender(chi-square = 0.00, p = 1.00) or literacy (U = 956, p = 0.96) differences between the two groups. A significant difference was observed between the two groups in the action verbal fluency task (U = 406.5, p < 0.01) that was not found in the other fluency tasks. The education level was the only biographical variable that influenced the action (verb) fluency outcomes, irrespective of disease duration. Our findings suggest a correlation between the disease mechanisms in PD and a specific verb deficit, support the validity of the action (verb) fluency as an executive function measure and suggest that this task provides unique information not captured with traditional executive function tasks.

Este estudo comparou o desempenho em provas de fluência verbal semântica, fonêmica e de ação, em 31 pacientes com doença de Parkinson (DP), sem demência, e 61 controlos saudáveis. As funções executivas e comportamentais foram igualmente avaliadas. O tempo de evolução foi de 9,8 anos (DP = 6,13). Não foram encontradas diferenças de idade (U = 899,5, p = 0,616), género (X2 = 0,00, p = 1,00) ou literacia (U = 956, p = 0,96) entre os dois grupos. Diferenças significativas foram encontradas na prova de fluência verbal de ação (U = 406,5, p < 0,01) que não se verificaram nas restantes provas. O nível educacional foi a única variável biográfica que influenciou o desempenho das tarefas, independentemente do tempo de evolução da doença. Os resultados sugerem uma correlação entre os mecanismos patológicos da DP e um déficit específico para a evocação de verbos e que a prova de fluência de ação providencia uma informação importante que não é detectada pelos restantes testes executivos.

Referral to rehabilitation in Parkinson's disease: who, when and to what end? / Criterios de encaminhamento para a reabilitacao na doenca de Parkinson: quem, quando e que finalidade?

The current state of evidence in non-pharmacological treatments amounts to an impending paradigm shift in neurology where physicians should be alerted that some rehabilitation interventions are already supported in current therapeutic guidelines. This manuscript aims to overview the best scientific data supporting referral to rehabilitation services in order to help physicians make the best use of the existing evidence for non-pharmacological treatments in the different stages of Parkinson´s disease.

O atual nível de evidência para tratamentos não farmacológicos sugere uma mudança de paradigma na área da neurologia, a qual passa por alertar os médicos neurologistas de que algumas intervenções na área da reabilitação estão já fundamentadas em linhas de orientação terapêutica. Este trabalho tem o objetivo de rever a melhor evidencia cientifica para a definição de critérios de encaminhamento para serviços de reabilitação, procurando auxiliar os médicos neurologistas a obter o melhor beneficio da evidência cientifica atual para tratamentos não farmacológicos nos diferentes estadios da doença de Parkinson.