Arquivos de neuro-psiquiatria最新文献

Charcot-Marie-Tooth disease (CMT) is a progressive neurological disorder that typically manifests in early childhood. The natural progression of CMT in Brazilian pediatric and adolescent populations remains unknown.To evaluate the natural disease progression in Brazilian children and adolescents with CMT using the Charcot-Marie-Tooth Pediatric Scale (CMTPedS).A longitudinal observational study was conducted to assess disease progression over a 2-year period through 3 evaluations, spaced 1 year apart, in children and adolescents aged 5 to 18 years with a confirmed CMT diagnosis. Height, weight, body mass index (BMI), fat-free mass, and functionality (assessed via the CMTPedS) were evaluated in each of the three sessions.We included 30 participants of both sexes with a mean age of 11.1 ± 3.2 years. Significant increases in height, weight, and BMI were observed, alongside a decline in the percentage of lean body mass across evaluations. The total score on the CMTPedS increased by 4.5 points throughout 2 years, indicating disease progression, with notable deterioration in functional dexterity, pinprick and vibration sensations, and gait. Significant progression was evident within 1 year, with an average annual deterioration of 2.25 points. The subgroup with CMT type 1A (CMT1A) presented an increase of 4 points in the total score, corresponding to an average annual progression of 2 points. Unlike the overall CMT group, the CMT1 subgroup did not exhibit a decline in the pinprick sensation score.Children and adolescents with CMT exhibit significant disease progression within 2 years, with measurable deterioration observed as early as 1 year. The CMTPedS is a reliable tool to monitor CMT progression in this population.

Restless legs syndrome (RLS) is a neurological disorder characterized by unpleasant sensations in the legs often linked to risk factors such as female gender and obesity.To explore the correlation between lower extremity subcutaneous adipose tissue thickness (ATT) and RLS, regardless of body mass index (BMI).A total of 212 RLS patients and 92 controls were included in this study. The ATT measurements were obtained using a caliper at the midcalf and knee regions and compared between groups. Data analysis was conducted using the IBM SPSS Statistics For Windows (IBM Corp.) software, version 23.0, with multiple logistic regression modeling employed. Values of p < 0.05 were considered statistically significant.The BMI and ATT were significantly higher in female patients (p < 0.001). Notably, patients experienced substantial weight gain in the second decade of symptom onset. Midcalf ATT was significantly lower in RLS patients than controls (p < 0.0005). The likelihood of RLS increased 1.107 times with each unit decrease in midcalf ATT, 1.051 times per increase in year of age, 1.015 times per unit decrease in ferritin level, and 1.072 times per unit decrease in the vitamin D level.The present study suggests a potential role of leg subcutaneous adipose tissue in RLS pathophysiology, regardless of BMI; it may influence RLS symptoms, offering a novel perspective on its etiology. Further research is warranted to validate these observations and investigate the underlying mechanisms.

The cerebellum is a complex structure tightly connected to the cerebral cortex, brainstem, and spinal cord. It plays an important role in movement coordination and motor planning. Lately, it has been also recognized as a key component in cognitive circuits. The specific motor functions of the cerebellum include the control of the initiation, execution, and velocity of movements, as well as the maintenance of balance, motor coordination, and muscle tonus. Cerebellar lesions typically result in ataxia but can also lead to other manifestations, such as abnormal eye movements, severe vertigo, or impaired motor learning. Additionally, the cerebellum plays a key role in cognitive processes, with dysfunction leading to conditions such as the cerebellar cognitive affective syndrome (CCAS). Functional distinctions are evident between the cerebellar vermis, hemispheres, and flocculonodular lobe, each contributing to different motor and cognitive domains. In the current review, we address the current understanding of cerebellar anatomy and physiology, highlighting the most relevant correlations between lesion location and clinical symptomatology for practicing neurologists.

Jan Evangelista Purkyně, born on December 17, 1787, in Bohemia (now part of the Czech Republic), was a prominent scientist renowned for his discoveries in eye, brain, and heart physiology. To honor him 156 years after his death, the present article explores Purkyně's history, from the struggles of his youth to the main legacies he left in medicine, especially neurology.

Stroke is influenced by numerous factors, both modifiable and non-modifiable. Among these, gamma-glutamyl transpeptidase (GGT) serves as a prognostic biomarker in cardiovascular diseases and, within this context, in neurological conditions like stroke.To determine whether an association exists between GGT and both ischemic and hemorrhagic strokes.A systematic and comprehensive literature search was conducted across 5 databases, encompassing studies published from their inception to January 28, 2024, following a population, exposure, comparator, outcome, and study (PECOS) framework. Ten primary studies meeting the eligibility criteria were selected.Our findings, based on a meta-analysis of the ten studies, indicate an increased risk of ischemic and hemorrhagic strokes in patients with elevated GGT levels, after excluding outliers. The analysis demonstrated a significant association, with a relative risk of 1.42 (95%CI: 1.01-1.99; I² = 19%) for hemorrhagic stroke and 1.22 (95%CI: 1.10-1.36; I² = 49%) for ischemic stroke.Our study reveals an elevated risk of stroke in patients with high GGT levels, demonstrating a 42% higher likelihood of hemorrhagic stroke and a 22% increased risk of ischemic stroke.

Tuberculosis (TB), a chronic infection caused by the Mycobacterium tuberculosis complex, has an increased risk of reactivation in conditions that affect the immune system, such as MS, and its treatment with disease-modifying drugs (DMDs). The present is a retrospective study of 2,036 patients diagnosed with MS followed at the Department of Neurology and Neurosurgery of Escola Paulista de Medicina, Universidade Federal de São Paulo, from February 1994 to September 2023. Of that total, 6 were included in this case series, taking different DMDs: fingolimod (n = 2), interferon beta 1a (n = 2), glatiramer acetate (n = 1) and cyclophosphamide (n = 1). In our study, two patients experienced worsening disability during tuberculosis treatment, while three others had increased disability after completing treatment. We reinforce the importance of screening all patients eligible for DMD treatment, especially the highly effective modern ones, and the importance of developing research-based guidelines for screening infectious diseases among patients with MS.

Juvenile systemic lupus erythematosus (jSLE) often involves the central nervous system, with headache being the most common symptom.To describe the frequency, characteristics, and impact on quality of life of headaches in jSLE patients.We conducted a cross-sectional study with jSLE patients under the age of 19 years through chart reviews and questionnaires. The participants underwent clinical and neurological exams, assessments of disease activity and damage, and evaluations of headache characteristics. Quality-of-life impacts were measured using the Brazilian Portuguese version of the Pediatric Quality of Life Inventory (PedsQL), and cognitive function was assessed with the Mini-Mental State Examination.Out of 34 patients enrolled, 17 presented with headaches (which were more prevalent in female subjects). The age of the patients at the time of the evaluation ranged from 8 to 18 years, and the mean age at headache onset was of 11.3 years. Most participants with headaches reported having episodic headaches (76.5%), no perimenstrual crises (73.3%), and a family history of migraines (88.2%). Additionally, most patients reported physical activity (35.3%) and stress (58.8%) as triggers. Patients with headaches had significantly lower PedsQL scores compared with those without headaches, both in health and activities (61.76 versus 73.71 respectively; p = 0.04) and feelings (42.65 versus 60.35 respectively; p = 0.049).Headaches were more prevalent in female jSLE patients, and the most subjects experienced migraines as the primary cause of headache. Patients with headaches presented lower scores on quality-of-life questionnaires. These findings highlight the need for a comprehensive approach to headache management in jSLE to enhance patient well-being.