eNeurologicalSci最新文献

Introduction

Spinal bulbar muscular atrophy (SBMA) is an X-linked recessive motor neuron disorder caused by the presence of ≥38 CAG repeats in the androgen receptor gene. Existing literature indicates a relationship between CAG repeat number and the onset age of some motor symptoms of SBMA. This review explores the effect of larger versus shorter CAG repeats on the age of weakness onset in male SBMA patients.

Methods

Three databases (October 2021; MEDLINE, SCOPUS, and Web of Science), Cambridge University Press, and Annals of Neurology were searched. 514 articles were initially identified, of which 13 were included for qualitative synthesis.

Results

Eleven of the thirteen articles identified a statistically significant inverse correlation between CAG repeat length and age of weakness onset in SBMA. Five studies indicated that SBMA patients with between 35 and 37 CAG repeats had an older age of weakness onset than patients with over 40 CAG repeats. The minimum number of CAG repeats associated with weakness was in the mid-to-late thirties.

Conclusion

Identification of a relationship between CAG repeat number and age of weakness may enable earlier detection and intervention for SBMA. In the future, studies should use interviews, chart reviews, and standardized scoring methods to reduce effects of retrospective bias.

In our previous study, istradefylline treatment in patients with Parkinson's disease (PD) improved postural abnormalities (PAs), as seen from a decrease in the mean Unified Dystonia Rating Scale (UDRS) total score from week 0 to week 24. A subgroup analysis based on baseline clinical characteristics investigated the association between improvement in the UDRS total score and istradefylline treatment. However, the association between an objective assessment of PAs and improvement in the UDRS total score is unclear. This ad hoc analysis investigated the association between improvement in the UDRS total score after istradefylline treatment and baseline trunk and neck angles, objective assessments of PAs, measured from patients' photographs taken in the previous study. The patients (n = 31) were stratified into groups based on the trunk forward flexion angle (TFFA), trunk lateral flexion angle (TLFA), and neck flexion angle (NFA) values at baseline. From week 0 to week 24, significant improvements in the UDRS total score were found in median percent change (−8.33% [interquartile range: −43.97, 0.00], P = 0.039) in patients with equal to or above the median TFFA values, and in median change (−‍1.50 [−9.25, 0.00], P = 0.015) and median percent change (−13.33% [−50.47, 0.00], P = 0.009) in patients with equal to or above the median TLFA values. Patients with more advanced PAs showed more consistent improvements in the UDRS total score with istradefylline. Baseline TFFA and TLFA values, which are objective values, may be useful to assess the istradefylline effectiveness in patients with PD and PAs.

Background

Acute spontaneous intracerebral haemorrhage is a devastating form of stroke. Prognostication after ICH may be influenced by clinicians' subjective opinions.

Purpose

To evaluate subjective predictions of 6-month outcome by clinicians' for ICH patients in a neurocritical care using the modified Rankin Scale (mRS) and compare these to actual 6-month outcome.

Method

We included clinicians' predictions of 6-month outcome in the first 48 h for 52 adults with ICH and compared to actual 6-month outcome using descriptive statistics and multilevel binomial logistic regression.

Results

35/52 patients (66%) had a poor 6-month outcome (mRS 4–6); 19/52 (36%) had died. 324 predictions were included. For good (mRS 0–3) versus poor (mRS 4–6), outcome, accuracy of predictions was 68% and exact agreement 29%. mRS 6 and mRS 4 received the most correct predictions. Comparing job roles, predictions of death were underestimated, by doctors (12%) and nurses (13%) compared with actual mortality (36%). Predictions of vital status showed no significant difference between doctors and nurses: OR = 1.24 {CI; 0.50–3.05}; (p = 0.64) or good versus poor outcome: OR = 1.65 {CI; 0.98–2.79}; (p = 0.06). When predicted and actual 6-month outcome were compared, job role did not significantly relate to correct predictions of good versus poor outcome: OR = 1.13 {CI;0.67–1.90}; (p = 0.65) or for vital status: OR = 1.11 {CI; 0.47–2.61}; p = 0.81).

Conclusions

Early prognostication is challenging. Doctors and nurses were most likely to correctly predict poor outcome but tended to err on the side of optimism for mortality, suggesting an absence of clinical nihilism in relation to ICH.

Background

Multiple sclerosis (MS) is an autoimmune demyelinating disease that involves the central nervous system (CNS). Individuals with Multiple Sclerosis (MS) may experience difficulty adapting to their diagnosis as the unpredictable nature of the disease can be challenging to cope with.

Methods

The purpose of this study is twofold. First, we have culturally adapted and analyzed the Arabic version of the Multiple Sclerosis Resiliency Scale (MSRS) psychometric properties. Second, we aimed to explore resilience in a sample of Lebanese patients with MS in the face of the chronic disease and financial hardship that Lebanon is going through to evaluate their strengths and struggles. The sample consisted of 306 participants aged between 18 and 79 diagnosed with MS for at least one year.

Results

After examining criterion validity, construct validity, internal consistency, and test-retest reliability, the Arabic version of the MSRS exhibited good psychometric properties. The study also revealed that resilience increases with age and lower disability scores. Additionally, individuals with higher resilience levels displayed lower levels of depression. The research revealed that MS patients have high resilience, mainly relying on cognitive and emotional strategies, social support from family and friends, MS peer support, and spirituality.

Conclusion

These findings highlight the importance of emotional coping strategies and social support in building resilience among MS patients.

Central hypoventilation syndrome (CHS) is a rare condition resulting from damage to the respiratory centers in the central nervous system (CNS). It can be congenital or acquired and can cause hypoventilation, inadequate gas exchange, and respiratory failure, often during sleep but sometimes even while awake. CHS can lead to respiratory failure and life-threatening complications if not identified promptly. In this report, we present a rare case of a patient with human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS), who developed CHS likely due to an opportunistic infection by cytomegalovirus (CMV) and varicella zoster virus (VZV), manifesting as a lesion in the medullary respiratory nuclei. After treatment with ganciclovir, the patient showed clinical improvement, and his medullary lesion resolved.

Background

Dandy-Walker malformation or syndrome is the most common posterior fossa malformation. It is commonly associated with other congenital anomalies such as cardiac defects; however, association with a giant occipital meningocele is extremely rare, as only around 34 cases have been described.

Case description

We report a case of a 2-month-old female infant who presented with a midline, gigantic mass in the back of the head. It was first discovered on a prenatal ultrasound. The mass measured about 15 × 5 cm, extending to the midback, not changing in size with crying, not attached to the back, and with a positive transillumination test. The diagnosis was confirmed after doing a brain computed tomography, which revealed hypoplasia of the vermis with an enlarged posterior fossa as well as cystic dilation of both ventricles with herniation through a bone defect.

Conclusion

Our case highlights a rare association between giant occipital meningocele and Dandy-Walker syndrome that is rarely discussed or reported in the medical literature. By reporting this extremely rare case of Dandy-Walker syndrome associated with a giant occipital meningocele, we hope to contribute to the creation of a database for future research so that a management protocol can be established for use by clinicians and neurosurgeons for better management of the condition.

COVID-19 is primarily classified as a respiratory disorder; however, various neurological symptoms have been reported in COVID-19 patients. Neurological manifestations may be the initial signs of COVID-19 and can develop in patients of different age groups and with or without underlying disease. COVID-19 causes a broad range of complications in the central nervous system. These include headaches, altered mental status, dizziness, seizures, cerebrovascular events, encephalitis, and other encephalopathies. Moreover, a broad spectrum of peripheral nervous system symptoms such as olfactory and gustatory dysfunctions, neuropathy, visual impairments, neuralgia, cranial nerves palsy, and muscle involvement could manifest as symptoms. Despite various efforts, the exact pathogenesis of the COVID-19 neurological complications has not been clarified yet. Moreover, the reason for the development of neurological manifestation in only some COVID-19 patients has not been determined. This review focuses on the different neurological symptoms associated with COVID-19 and the possible pathological mechanisms hoping to provide new insights for diagnosis, therapies, or other forms of intervention.