Sleep quality of patients with diabetes mellitus: association with anxiety trait and state.

Objective: To assess sleep quality and the association of trait and state anxiety in patients with diabetes mellitus.

Method: A cross-sectional, quantitative, and analytical study was conducted between January and April 2022, at the reference center for hypertension and diabetes in Rio Verde, Goiás, with 81 patients. The Pittsburgh Sleep Quality Index and State-Trait Anxiety Inventory were used for data collection.

Brazilian Academy of Neurology practice guidelines for stroke rehabilitation: part I.

The Guidelines for Stroke Rehabilitation are the result of a joint effort by the Scientific Department of Neurological Rehabilitation of the Brazilian Academy of Neurology aiming to guide professionals involved in the rehabilitation process to reduce functional disability and increase individual autonomy. Members of the group participated in web discussion forums with predefined themes, followed by videoconference meetings in which issues were discussed, leading to a consensus. These guidelines, divided into two parts, focus on the implications of recent clinical trials, systematic reviews, and meta-analyses in stroke rehabilitation literature.

Validation of the Brazilian Portuguese version of the Rapid Eye Movement Sleep Behavior Disorder Screening Questionnaire (RBDSQ-BR).

Introduction: A diagnosis of rapid eye movement sleep behavior disorder (RBD) currently requires confirmation with polysomnography (PSG). However, PSG may not be sufficiently available. In these situations, a clinical diagnostic measure might be useful.

Extended Time Window Mechanical Thrombectomy for Acute Stroke in Brazil.

Background: Mechanical thrombectomy (MT) is the standard of care for acute ischemic stroke (AIS) caused by large vessel occlusion of the anterior circulation within 6 hours of symptoms onset and can be performed with an extended window up to 24 hours in selected patients. Nevertheless, the outcomes of MT with extended window are unknown in developing countries.

Objective: Explore the safety and efficacy of MT for AIS performed beyond 6 hours from symptoms onset in Brazil.

Vocal Parameters and Self-Perception in Individuals With Adductor Spasmodic Dysphonia.

Objective: The study aimed to compare and correlate perceptual-auditory analysis of vocal parameters and self-perception in individuals with adductor spasmodic dysphonia before and after the application of botulinum toxin.

Study Design: This is a prospective cohort study.

Methods: Sixteen individuals with a diagnosis of adductor spasmodic dysphonia were submitted to the application of botulinum toxin in the thyroarytenoid muscle, to the recording of a voice signal, and to the Voice Handicap Index (VHI) questionnaire before the application and at two time points after application.

Comparison Between Dysport and Prosigne in the Treatment of Cervical Dystonia.

Unlabelled: Cervical dystonia is the most frequent type of primary focal dystonia and treatment with botulinum toxin (BTX) is currently the criterion standard.

Objective: In this study, we compared the safety and efficacy of the following 2 formulations of BTXs available in Brazil: abobotulinumtoxin A (Dysport) and Lanzhou BTX type A (Prosigne), during a follow-up of 13 months.

Methods: We conducted a prospective, randomized, double blind trial with 1 group being treated with Dysport and the other with Prosigne.

Cross-cultural adaptation and validation of the episodic autobiographic memory interview for Brazilian Portuguese.

Episodic memory enables the storage of personal events with specific temporal and spatial details, and their retrieval through a sensory experience, usually visual, which is called autonoetic consciousness. While, in Brazil, several scales for the evaluation of anterograde episodic memory have been validated, there is not yet an instrument to assess the episodic autobiographical memory. The aim of this study is thus to make a cross-cultural adaptation and validation of the Episodic Autobiographic Memory Interview (EAMI) for Brazilian Portuguese.

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes.

Background: Recently, a number of patients have been described with structural rearrangements at 3q13.31, delineating a novel microdeletion syndrome with common clinical features including developmental delay and other neurodevelopmental disorders (NDD). A smallest region of overlapping deletions (SRO) involved five RefSeq genes, including the transcription factor gene ZBTB20 and the dopamine receptor gene DRD3, considered as candidate genes for the syndrome.

Validation of the Brazilian version of the Clinical Gait and Balance Scale and comparison with the Berg Balance Scale.

Objective: To validate the Clinical Gait and Balance Scale (GABS) for a Brazilian population of patients with Parkinson's disease (PD) and to compare it to the Berg Balance Scale (BBS).

Methods: One hundred and seven PD patients were evaluated by shortened UPDRS motor scale (sUPDRSm), Hoehn and Yahr (HY), Schwab and England scale (SE), Falls Efficacy Scale International (FES-I), Freezing of Gait Questionnaire (FOG-Q), BBS and GABS.

Results: The internal consistency of the GABS was 0.

Validation and internal consistency of Patient Health Questionnaire-9 for major depression in Parkinson's disease.

Background: depression is common in Parkinson's disease (PD), although frequently under-recognised. Among the scales used to investigate depressive features in PD, the Patient Health Questionnaire-9 (PHQ-9) has been largely used, but no specific cut-off scores for depression have been established thus far, which hinders the use of the PHQ-9 in clinical and research settings.

Objective: we assessed the discriminant validity of the PHQ-9 in order to establish the best cut-off score for the diagnosis of major depression in PD patients.

Validity of the Brazilian version of the freezing of gait questionnaire.

Objective: To validate the freezing of gait questionnaire (FOG-Q) for a Brazilian population of Parkinson's disease (PD) patients.

Methods: One hundred and seven patients with a diagnosis of PD were evaluated by shortened UPDRS motor scale (sUPDRm), Hoehn and Yahr (HY), Schwab and England scale (SE), Berg balance scale (BBS), falls efficacy scale international (FES-I), gait and balance scale (GABS), and the FOG-Q Brazilian version.

Results: 47.

Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype.

Huntington's disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical HD phenotype without the expected mutation. The objective of this study was to assess the occurrence of diseases such as Huntington's disease-like 2 (HDL2), spinocerebellar ataxia (SCA) 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and chorea-acanthocytosis (ChAc) among 29 Brazilian patients with a HD-like phenotype.

Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis.

Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder caused by loss of function mutations in the vacuolar protein sorting 13 homolog A (VPS13A) gene that encodes chorein. It is characterized by adult-onset chorea, peripheral acanthocytes, and neuropsychiatric symptoms. In the present study, we performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis, of the VPS13A gene in ChAc patients.

Validity of the PHQ-2 for the screening of major depression in Parkinson's disease: two questions and one important answer.

Introduction: Depression is the most common psychiatric comorbidity in Parkinson's disease (PD), but is often under-diagnosed and under-recognized.

Objectives: To evaluate and compare the psychometric qualities of the Patient Health Questionnaire (PHQ-2) and the depression item of the Unified Parkinson's Disease Rating Scale (UPDRS).

Method: Cross-sectional study conducted at a movement disorders outpatient clinic.

Shape alterations in the striatum in chorea-acanthocytosis.

Chorea-acanthocytosis (ChAc) is an uncommon autosomal recessive disorder due to mutations of the VPS13A gene, which encodes for the membrane protein chorein. ChAc presents with progressive limb and orobuccal chorea, but there is often a marked dysexecutive syndrome. ChAc may first present with neuropsychiatric disturbance such as obsessive-compulsive disorder (OCD), suggesting a particular role for disruption to striatal structures involved in non-motor frontostriatal loops, such as the head of the caudate nucleus.

Use of the frontal assessment battery in evaluating executive dysfunction in patients with Huntington's disease.

The frontal assessment battery (FAB) is a bedside cognitive scale designed to measure executive functions. Huntington's disease (HD) is a neurodegenerative disorder characterized by motor, behavioral, and cognitive dysfunction. The aim of this study was to check the validity of the FAB for the evaluation of cognitive impairment in patients with HD.

Chorea-acanthocytosis: report of two Brazilian cases.

Chorea-acanthocytosis (ChAc) is a neurodegenerative disorder characterized by chorea, neuropsychiatric disturbances and acanthocytosis, caused by mutations of VPS13A. This gene produces the protein chorein which is absent in patients with ChAc on Western blot assay. We report the first two Brazilian patients with ChAc confirmed by chorein detection.