Complex Craniosynostosis in Pitt-Hopkins Syndrome: Case Report in Twins.

INTRODUCTION: Pitt-Hopkins syndrome (PTHS) is a rare genetic syndrome associated with neurodevelopmental disorders and craniofacial dysmorphisms caused by variations in the TCF4 transition factor. The aim of this article was to report the case of two twin infants diagnosed with PTHS, confirmed by the identification of a heterozygous pathogenic variant in the TCF4 gene through DNA extracted from a buccal swab. CASE PRESENTATION: Both infants presented with craniofacial asymmetry with a metopic crest and cranial deformity. During the diagnostic investigation, computed tomography with three-dimensional reconstruction of the skull showed premature fusion of the left coronal and metopic sutures in both twins. They underwent craniofacial reconstruction at the 9th month of age using a combination of techniques. The postoperative outcomes were satisfactory in both cases. CONCLUSION: To the best of our knowledge, this is the first case report to describe the occurrence of complex craniosynostosis (CCS) in children with PTHS. Further studies are needed to determine whether the co-occurrence of PTHS and CCS described here indicates an association or is explained by chance.

Publication Trends of Research on Intrathecal Baclofen Therapy: A Bibliometric Analysis of the Literature.

OBJECTIVE: The objective of this study was to analyze the trends in publications on intrathecal baclofen (ITB) therapy. METHODS: We searched Elsevier's Scopus database in February 2022 to find articles focused on ITB therapy. Data extracted included citation count, publication year, author's country and income category, journal and its 5-year impact factor, research type, disease requiring ITB, and target population. RESULTS: The analysis covered 615 articles from 1985 to 2022. The average citation count per article was 27.47 (95% confidence interval 23.75-31.18) and the mean impact factor was 4.54 (95% confidence interval 3.84-5.24). The majority (76.42%) were primary research, with 8.1% being interventional and 91.9% observational. Even so, one half of the top ten most cited were interventional. Secondary research and case reports made up 12.68% and 10.73% respectively, with narrative reviews making up most of the secondary research (79.48%). Only 1 study conducted a meta-analysis. The United States was the most prolific country. High-income countries published 96.42% of articles. CONCLUSIONS: The rising number of ITB articles and citations indicates growing interest and expanding knowledge in this field. However, there's a notable scarcity of research from low- and middle-income countries, particularly those with high prevalence of ITB-treatable diseases. The need for more evidence to overcome potential barriers to ITB implementation is emphasized. Despite an increasing number of publications, a large proportion presented low levels of evidence, such as case reports and narrative reviews, highlighting the need for more rigorous research methods to solidify the evidence base for ITB therapy.

COVID-19 neuropsychiatric repercussions: Current evidence on the subject.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has affected the entire world, causing the coronavirus disease 2019 (COVID-19) pandemic since it was first discovered in Wuhan, China in December 2019. Among the clinical presentation of the disease, in addition to fever, fatigue, cough, dyspnea, diarrhea, nausea, vomiting, and abdominal pain, infected patients may also experience neurological and psychiatric repercussions during the course of the disease and as a post-COVID-19 sequelae. Thus, headache, dizziness, olfactory and gustatory dysfunction, cerebrovascular disorders, neuromuscular abnormalities, anxiety, depression, and post-traumatic stress disorder can occur both from the infection itself and from social distancing and quarantine. According to current evidence about this infection, the virus has the ability to infect the central nervous system (CNS) via angiotensin-converting enzyme 2 (ACE2) receptors on host cells. Several studies have shown the presence of ACE2 in nerve cells and nasal mucosa, as well as transmembrane serine protease 2, key points for interaction with the viral Spike glycoprotein and entry into the CNS, being olfactory tract and blood-brain barrier, through hematogenous dissemination, potential pathways. Thus, the presence of SARS-CoV-2 in the CNS supports the development of neuropsychiatric symptoms. The management of these manifestations seems more complex, given that the dense parenchyma and impermeability of brain tissue, despite protecting the brain from the infectious process, may hinder virus elimination. Still, some alternatives used in non-COVID-19 situations may lead to worse prognosis of acute respiratory syndrome, requiring caution. Therefore, the aim of this review is to bring more current points related to this infection in the CNS, as well as the repercussions of the isolation involved by the pandemic and to present perspectives on interventions in this scenario.

Frequency of Withdrawal of Life-Sustaining Therapy for Perceived Poor Neurologic Prognosis.

To measure the frequency of withdrawal of life-sustaining therapy for perceived poor neurologic prognosis among decedents in hospitals of different sizes and teaching statuses. DESIGN: We performed a multicenter, retrospective cohort study. SETTING: Four large teaching hospitals, four affiliated small teaching hospitals, and nine affiliated nonteaching hospitals in the United States. PATIENTS: We included a sample of all adult inpatient decedents between August 2017 and August 2019. MEASUREMENTS AND MAIN RESULTS: We reviewed inpatient notes and categorized the immediately preceding circumstances as withdrawal of life-sustaining therapy for perceived poor neurologic prognosis, withdrawal of life-sustaining therapy for nonneurologic reasons, limitations or withholding of life support or resuscitation, cardiac death despite full treatment, or brain death. Of 2,100 patients, median age was 71 years (interquartile range, 60-81 yr), median hospital length of stay was 5 days (interquartile range, 2-11 d), and 1,326 (63%) were treated at four large teaching hospitals. Withdrawal of life-sustaining therapy for perceived poor neurologic prognosis occurred in 516 patients (25%) and was the sole contributing factor to death in 331 (15%). Withdrawal of life-sustaining therapy for perceived poor neurologic prognosis was common in all hospitals: 30% of deaths at large teaching hospitals, 19% of deaths in small teaching hospitals, and 15% of deaths at nonteaching hospitals. Withdrawal of life-sustaining therapy for perceived poor neurologic prognosis happened frequently across all hospital units. Withdrawal of life-sustaining therapy for perceived poor neurologic prognosis contributed to one in 12 deaths in patients without a primary neurologic diagnosis. After accounting for patient and hospital characteristics, significant between-hospital variability in the odds of withdrawal of life-sustaining therapy for perceived poor neurologic prognosis persisted. CONCLUSIONS: A quarter of inpatient deaths in this cohort occurred after withdrawal of life-sustaining therapy for perceived poor neurologic prognosis. The rate of withdrawal of life-sustaining therapy for perceived poor neurologic prognosis occurred commonly in all type of hospital settings. We observed significant unexplained variation in the odds of withdrawal of life-sustaining therapy for perceived poor neurologic prognosis across participating hospitals.

Long term phonatory function following acoustic neuroma surgery: a cohort study.

Background: Acoustic neuroma (AN) is a well-recognized cause of neurological morbidity, peripheral facial paralysis being one of the most prevalent. Phonatory dysfunction in the late post-operative term has not been properly addressed so far.Objective: The objective of this study is to describe the outcomes of phonatory function on the long-term follow-up of AN surgery and identify its prognostic factors.Material and methods: This cohort study included patients submitted to AN surgery from 1999 to 2014, with a mean follow up of 6.4 ± 4.5 years. To evaluate the phonatory function, we performed a combination of noninvasive acoustic and aerodynamic measurements including vocal intensity and stability, maximum declination rate of the glottal airflow (MDR) and transglottal pressure scale (TP).Results: 101 patients were studied. 25 (24.7%) presented a deficit in phonatory function. Women comprised 56% and the mean age was 42.4 ± 13.8 years (range19-80). 100% presented reduced expiratory airflow capacity with excessive manifestation of the laryngeal musculature (TP > 1,23s ;MDR/z/

Vestibular schwannoma: predictive factors of long-term postoperative neurological outcome.

Introduction: Vestibular schwannoma (VS) is a slow-growing, benign tumor that is usually diagnosed when symptoms develop. Surgical management aims to reduce long-term sequelae (LTS) associated with late diagnosis.Objective: Identify predictive factors of LTS after VS surgery and clinical outcome measured by modified Rankin scale (mRS).Methods: This cohort study included patients submitted to VS surgery from 1999 to 2014, with a mean follow-up of 6.4 ± 4.5 years. Disability was assessed across the mRS the primary outcome was defined by scores 3 to 6, which implied poor outcome in neurological recovery. Predictive factors were identified through multivariate logistic regression.Results: A total of 101 patients were included in this study. Fifty-one (50.49%) presented mRS ≥ 3 on the late postoperative period. Men comprise 22.8%, and the mean age was 47.1 ± 16.0 years (range19-80). Patients with mRS ≥ 3 presented larger tumors (3.7 ± 1.1 cm vs. 3.2 ± 1.0 cm, p < .001), less total resection (50% vs. 76.7%, p < .010) and more neurofibromatosis II(NFII) (84.9% vs. 64.3%, p = .023). On multivariate analysis NFII, tumor size and type resection were predictive of degree of autonomy (mRS ≥3: NF II (OR 3.5, 95% CI 1.08-11.36, p = .036) and tumor size (each 1 cm, OR1.51, 95% CI 0.96-2.38, p = .050).Conclusion: Tumor size, presence of NFT II, type of surgical approach and number of surgeries were identified as predictive factors of functional sequelae in long-term follow-up after VS surgery.HighlightsOne-third of our patients presented some degree of disability that impact in autonomy (mRS ≥ 3) in the late postoperative period.Tumor size, NFII, surgical approach were predictive to comprise independency.Considering the cranial nerve monitoring and late diagnosis, our results can give some contribution to understanding the Brazilian profile of VS surgery.Our findings suggests the need to look over what it is well recognized and identify aspects that affect the prognosis such as functional disabilities in VS surgery.

La Musicoterapia Neurológica como modelo de Neurorrehabilitación / Neurologic Music Therapy as a Neurorehabilitation model

Resumen La musicoterapia neurológica (NMT) está siendo implementada en hospitales y centros de neurorrehabilitación alrededor del mundo gracias a la abundante evidencia neurocientífica y al creciente interés por los efectos de la música en el cerebro. Siendo reconocida y avalada por la World Federation for Neurorehabilitation, la musicoterapia neurológica es utilizada como intervención no-farmacológica y no-invasiva para tratar a pacientes con trastornos neurológicos que presentan disfunciones cognitivas, motoras, y/o del lenguaje. Este artículo busca dar a conocer a esta disciplina como un método efectivo y basado en evidencia para tratar los desórdenes neurológicos.

Abstract Neurologic music therapy (NMT) is being implemented in hospitals and neurorehabilitation facilities around the world, thanks to the abundant neuroscience research and to the growing interest in the effects of music on the brain. Recognized and endorsed by the World Federation for Neurorehabilitation, neurologic music therapy is utilized as a non-pharmacological, non-invasive intervention to treat patients with neurologic disease that present cognitive, motor, and/or language impairments. This article aspires to introduce this discipline as an effective, evidence-based method of treatment for neurologic disease.

Severe Neurologic Disorders in 2 Fetuses with Zika Virus Infection, Colombia.

We report the results of pathologic examinations of 2 fetuses from women in Colombia with Zika virus infection during pregnancy that revealed severe central nervous system defects and potential associated abnormalities of the eye, spleen, and placenta. Amniotic fluid and tissues from multiple fetal organs tested positive for Zika virus.

An improved approach for measuring the tonic stretch reflex response of spastic muscles.

We propose a new method for detecting the onset of the stretch reflex response for assessment of spasticity based on the Tonic Stretch Reflex Threshold (TSRT). Our strategy relies on a three-stage approach to detect the onset of the reflex EMG activity: (i) Reduction of baseline activity by means of Empirical Mode Decomposition; (ii) Extraction of the complex envelope of the EMG signal by means of Hilbert Transform (HT) and; iii) A double threshold decision rule. Simulated and real EMG data were used to evaluate and compare our method (TSRT-EHD) against three other popular methods described in the literature to assess TSRT ('Kim', 'Ferreira' and 'Blanchette'). Four different groups of signals containing simulated evoked stretch reflex EMG activities were generated: groups A and B without spontaneous EMG activity at rest and signal-to-noise ratio (SNR) of 10dB and 20dB respectively; groups C and D with spontaneous EMG activity at rest, as observed frequently in spastic muscles, and SNR of 10dB and 20dB respectively. The results with simulated data showed a significantly higher accuracy of TSRT-EHD for detecting the onset of the reflex EMG activity in groups C and D when compared to the other methods. Analyses using real data from five post stroke spastic subjects demonstrated that the TSRTs generated by each method were dramatically different from one another. Nevertheless, only TSRT-EHD provided valid measures across all subjects.

Acupuncture for Symptomatic Treatment of Fatigue in Parkinson's Disease: Trial Design and Implementation.

Background: Acupuncture use is increasing worldwide for many conditions, including movement disorders. Clinical research in acupuncture has also increased to test anecdotal reports of clinical benefits empirically and investigate potential mechanisms. Method: This article describes considerations for designing a double-blinded, randomized, placebo-controlled clinical trial of acupuncture for fatigue in Parkinson's disease (PD) and describes the current authors' experience in the implementation and early conduct of this trial. Relevant literature is also reviewed to provide guidance for other researchers seeking to perform clinical research relevant to PD and related disorders. Results: Trial design should be driven by a well-defined research question and sufficient detail to meet Standards for Reporting Interventions in Clinical Trials of Acupuncture criteria when a trial is complete. Important items for review include: randomization and blinding; recruitment and participant selection; sham methodology choice; staff training; and practical implementation of study procedures. Sample forms used for the current authors' trial are shared. Conclusions: High-quality clinical trials of acupuncture can provide valuable information for clinicians, patients, and policymakers. Acupuncture trials differ in critical ways from pharmaceutical trials and might require additional considerations regarding design and implementation. Adequate preparation for the unique challenges of acupuncture studies can improve trial implementation, design, efficiency, and impact.

Metabolismo da homocisteína em doenças neurológicas / Homocysteine metabolism in neurologic disorders

OBJETIVO: Realizar uma revisão sobre o metabolismo do aminoácido sulfurado homocisteína, analisando como elevações de seus níveis séricos se correlacionam com a fisiopatologia das mais diversas doenças neurológicas, assim como sobre o tratamento da hiper-homocisteinemia. MÉTODO: Revisão não sistemática de artigos que abordassem o papel da homocisteína associado a doenças neurológicas.Foi priorizada a utilização de artigos que apresentassem no título as palavras-chave "homocisteína" ou "hiper-homocisteinemia",associadas a palavras-chave contendo as enfermidades neurológicas de maior prevalência como acidente vascular cerebral, doença de Alzheimer, doença de Parkinson e outras. Foram utilizadas as bases de dados do PubMed, Lilacs e Google Scholar. RESULTADOS: Foram utilizados 35 artigos em inglês e 2 artigos em português para a confecção desta revisão. CONCLUSÃO: A homocisteína se encontra elevada em associação com as mais diversas doenças neurológicas. Contudo, em muitas delas não está estabelecido se esse aumento é um achado secundário ou se representa um papel da homocisteína na patogênese dessas enfermidades. Mais estudos são necessários para estabelecer o papel da homocisteína em situações neurológicas.O tratamento da hiper-homocisteinemia é fácil, sendo feito com reposição de vitamina B12 e, principalmente, de folatos.

OBJECTIVE: Review the metabolism of sulfur amino acid homocysteineand how elevation of its serum levels is correlated with the pathophysiologyof several neurological diseases, as well as the treatment of hyperhomocysteinemia. METHOD: A non-systematic review of articles discussing the role of homocysteine associated with neurological diseases was performed. The use of articles that presented in the title the keywords "homocysteine" or "hyperhomocysteinemia" associated with keywords containing the most prevalent neurological disorders such as stroke, Alzheimer's disease, Parkinson's disease and others were preferred. The search was underdone through PubMed, Google Scholar and Lilacs databases. RESULTS: There were selected 35 articles in English and 2 articles in Portuguese in this this review. CONCLUSION: High levels of homocysteine are associated with various neurological disorders. However, in many of these are not established whether this increase is a consequence of these disorders or if homocysteine plays a role in the pathogenesis of these diseases. More studies are needed to establish the participation ofhomocysteine in neurological disorders. The treatment of hyperhomocysteinemia is easy, being done with replacement of vitamin B12and especially folate.

Horner-s Syndrome following common carotid artery translocation in a horse: case report / Síndrome de Horner após transposição de carótida em equino: relato de caso

Horner's syndrome (HS) is a sympathetic dysfunction caused by injuries to the sympathetic pathway. A clinical case of HS following common carotid artery transposition and catheterization in a horse is described. The animal presented head and neck sweating with focal skin temperature elevation, facial paralysis and ptosis. Most clinical signs were transient and persisted for two hours following percutaneous catheter removal. Recurrence of clinical signs was observed at subsequent catheterizations. Ptosis endured for 10 months as a consequence of the first catheter placement which demonstrates the importance of careful manipulation of the anatomical structures of the neck when performing any surgical manipulation in this area.(AU)

A síndrome de Horner é uma disfunção do sistema nervoso autônomo simpático, decorrente de qualquer injúria a essa via de transmissão nervosa. Este artigo descreve um caso da síndrome após cirurgia para a transposição da artéria carótida comum. Os sinais clínicos observados foram sudorese de face e pescoço, com hipertermia localizada, paralisia facial e ptose palpebral. A maioria dos sinais foi transitória e se manifestou por até duas horas após a remoção do cateter percutâneo, introduzido na artéria transposta. Como essa manifestação foi recorrente nas venóclises subsequentes e a ptose palpebral perdurou por 10 meses, desde a primeira punção arterial, ressalta-se a importância e o critério quando da necessidade de manipulação cirúrgica dessa região anatômica.(AU)

Horner-s Syndrome following common carotid artery translocation in a horse: case report / Síndrome de Horner após transposição de carótida em equino: relato de caso

Horner's syndrome (HS) is a sympathetic dysfunction caused by injuries to the sympathetic pathway. A clinical case of HS following common carotid artery transposition and catheterization in a horse is described. The animal presented head and neck sweating with focal skin temperature elevation, facial paralysis and ptosis. Most clinical signs were transient and persisted for two hours following percutaneous catheter removal. Recurrence of clinical signs was observed at subsequent catheterizations. Ptosis endured for 10 months as a consequence of the first catheter placement which demonstrates the importance of careful manipulation of the anatomical structures of the neck when performing any surgical manipulation in this area...

A síndrome de Horner é uma disfunção do sistema nervoso autônomo simpático, decorrente de qualquer injúria a essa via de transmissão nervosa. Este artigo descreve um caso da síndrome após cirurgia para a transposição da artéria carótida comum. Os sinais clínicos observados foram sudorese de face e pescoço, com hipertermia localizada, paralisia facial e ptose palpebral. A maioria dos sinais foi transitória e se manifestou por até duas horas após a remoção do cateter percutâneo, introduzido na artéria transposta. Como essa manifestação foi recorrente nas venóclises subsequentes e a ptose palpebral perdurou por 10 meses, desde a primeira punção arterial, ressalta-se a importância e o critério quando da necessidade de manipulação cirúrgica dessa região anatômica...