Guillain–Barré syndrome (GBS) is a rare, but potentially fatal, immune-mediated disease of the peripheral nerves and nerve roots that is usually triggered by infections. The incidence of GBS can therefore increase during outbreaks of infectious diseases, as was seen during the Zika virus epidemics in 2013 in French Polynesia and 2015 in Latin America. Diagnosis and management of GBS can be complicated as its clinical presentation and disease course are heterogeneous, and no international clinical guidelines are currently available. To support clinicians, especially in the context of an outbreak, we have developed a globally applicable guideline for the diagnosis and management of GBS. The guideline is based on current literature and expert consensus, and has a ten-step structure to facilitate its use in clinical practice. We first provide an introduction to the diagnostic criteria, clinical variants and differential diagnoses of GBS. The ten steps then cover early recognition and diagnosis of GBS, admission to the intensive care unit, treatment indication and selection, monitoring and treatment of disease progression, prediction of clinical course and outcome, and management of complications and sequelae.

Charcot-Marie-Tooth (CMT) neuropathies are common disorders of the peripheral nervous system caused by demyelination or axonal degeneration, or a combination of both features. We previously assigned the locus for autosomal dominant intermediate CMT neuropathy type C (DI-CMTC) to chromosome 1p34-p35. Here we identify two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with DI-CMTC. Biochemical experiments and genetic complementation in yeast show partial loss of aminoacylation activity of the mutant proteins, and mutations in YARS, or in its yeast ortholog TYS1, reduce yeast growth. YARS localizes to axonal termini in differentiating primary motor neuron and neuroblastoma cultures. This specific distribution is significantly reduced in cells expressing mutant YARS proteins. YARS is the second aminoacyl-tRNA synthetase found to be involved in CMT, thereby linking protein-synthesizing complexes with neurodegeneration.

Peripheral neuropathy (PN) in inflammatory bowel disease (IBD) patients has been reported as individual cases or small series; however, its clinical and electrodiagnostic features have not been well characterized. We conducted a retrospective review of patients with PN and either Crohn's disease (CD) or ulcerative colitis (UC). Eighteen patients with CD and 15 patients with UC were identified after other PN causes were excluded. Male predominance and mean age of PN presentation in the fifties was seen in both groups. Demyelinating neuropathy (CIDP or MMN) occurred in close to 30% of the patients, in a higher percentage of women, than in the non-demyelinating patients. One-third of CD and UC patients had small-fibre or large-fibre sensory axonal PN, while approximately 40% of the CD and UC patients had large-fibre axonal sensorimotor PN. PN symptoms began earlier in the course of CD than in UC (P < 0.05). Patients with large-fibre axonal PN were older than patients with small-fibre sensory axonal PN (P < 0.05). Close to 60% of each group received immunotherapy with different agents. Half of those treated with CD and 40% with UC had demyelinating PN. Most of the patients who completed immunotherapy in both groups improved; all the patients with demyelinating neuropathy had either moderate or major improvement. The PN syndromes in IBD patients are diverse. Demyelinating forms may occur at any time, but early in the IBD course, pure sensory neuropathy is more common. Response to immunotherapy may occur in both demyelinating and axonal neuropathies.

Resumo Contexto: Há escassez de instrumentos validados para o estudo da religiosidade em amostras brasileiras. Um recente estudo realizado em uma amostra comunitária sugeriu adequada validade para a versão em português brasileiro do índice de Religiosidade de Duke (P-DUREL). Entretanto, as propriedades psicométricas do P-DUREL não foram estudadas em amostras psiquiátricas e/ou de estudantes universitários. Objetivo: Determinar a consistência interna, a confiabilidade teste-reteste e a validade convergente-discriminante do P-DUREL em duas amostras distintas. Métodos: Amostra 1: estudantes universitários (n = 323). Amostra 2: pacientes psiquiátricos (n = 102). Foram aplicados o P-DUREL e o Instrumento de Qualidade de Vida da Organização Mundial da Saú-de -Módulo Espiritualidade, Religiosidade e Crenças Pessoais (WHOQOL-SRPB) em ambas as amostras; os sintomas psicológicos foram medidos por meio do Inventário Beck de Depressão (IDB) e do Inventário Beck de Ansiedade (IAB) na amostra 1 e da Escala Hospitalar de Ansiedade e Depressão (HADS) na amostra 2. Resultados: O P-DUREL teve adequada consistência interna (α de Cronbach > 0,80) e confiabilidade teste-reteste (Coeficiente de Correlação Intraclasse > 0,90) em ambas as amostras. Correlações moderadas entre as subescalas da P-DUREL (0,58 < r < 0,71) foram observadas. Além disso, correlações significantes entre os escores do P-DUREL com o escore geral do WHOQOL-SRPB, bem como com medidas de sintomas psicológicos, foram observadas em ambas as amostras. Conclusão: O presente estudo abre perspectivas para o uso do P-DUREL para a investigação das dimensões da religiosidade em amostras brasileiras com características sociodemográficas diversas. Taunay TCD, et al. / Rev Psiq Clín. 2012;39(4):130-5Palavras-chave: Religiosidade, estudo de validação, Índice de Religiosidade de Duke, saúde mental, sintomas depressivos. AbstractBackground: There is a shortage of validated instruments for the study of religiousness in Brazilian samples. A recent study in a community sample pointed to an adequate validity for the Brazilian Portuguese version of the Duke Religiosity Index (P-DUREL). Nevertheless, no study to date has investigated the psychometric properties of the P-DUREL in psychiatric and/or university student samples. Objective: To determine the internal consistency, the test-retest reliability and the convergent-discriminant validity of the P-DUREL in two distinct samples. Methods: Sample 1: university students (n = 323). Sample 2: psychiatric patients (n = 102). The P-DUREL and the World Health Organization's Quality of Life Instrument--Spirituality, Religion and Personal Beliefs module (WHOQOL-SRPB); psychological distress symptoms were measured by means the Beck Depression Inventory (BDI) and the Beck Anxiety Inventory (BAI) in sample 1, and the Hospital Anxiety and Depression Scale (HADS) in sample 2. Results: The P-DUREL had adequate internal consistency (Cronbach's α > 0.80) and test-retest reliability (Intraclass Correlation Coefficient > 0.90) in both samples. Moderate ...

Neurological disorders, especially PN, are common in our Brazilian cohort of IBD patients. They are diverse, multifactorial, and more common in women. Despite the mild phenotype in most cases, attention should be given by the general practitioner and gastroenterologist since they are frequently undiagnosed. Further studies are necessary to confirm these findings in populations with different genetic and nutritional backgrounds.

Predominant brainstem or cerebellar edema is rare in hypertensive encephalopathy and usually affects patients with secondary hypertension. Despite the severity of the radiologic findings, clinical features of brainstem involvement are uncommon. The authors report the clinical and radiologic features of two patients.

Dominant intermediate Charcot-Marie-Tooth (DI-CMT) neuropathy is a genetic and phenotypic variant of classical CMT, characterized by intermediate nerve conduction velocities and histological evidence of both axonal and demyelinating features. We report two unrelated families with intermediate CMT linked to a novel locus on chromosome 1p34-p35 (DI-CMTC). The combined haplotype analysis in both families localized the DI-CMTC gene within a 6.3-cM linkage interval flanked by markers D1S2787 and D1S2830. The functional and positional candidate genes, Syndecan 3 (SDC3), and lysosomal-associated multispanning membrane protein 5 (LAPTM5) were excluded for pathogenic mutations.

Spinal cord injury (SCI) leads to profound haemodynamic changes. Constant outflows from the central autonomic pattern generators modulate the activity of the spinal sympathetic neurons. Sudden loss of communication between these centers and the sympathetic neurons in the intermediolateral thoracic and lumbar spinal cord leads to spinal shock. After high SCI, experimental data demonstrated a brief hypertensive peak followed by bradycardia with escape arrhythmias and marked hypotension. Total peripheral resistance and cardiac output decrease, while central venous pressure remains unchanged. The initial hypertensive peak is thought to result from direct sympathetic stimulation during SCI and its presence is anaesthetic agent dependent. Hypotension improves within days in most animal species because of reasons not totally understood, which may include synaptic reorganization or hyper responsiveness of alpha receptors. No convincing data has demonstrated that the deafferented spinal cord can generate significant basal sympathetic activity. However, with the spinal shock resolution, the deafferented spinal cord (in lesions above T6) will generate life-threatening hypertensive bouts with compensatory bradycardia, known as autonomic hyperreflexia (AH) after stimuli such as pain or bladder/colonic distension. AH results from the lack of supraspinal control of the sympathetic neurons and altered neurotransmission (e.g. glutamatergic) within the spinal cord. Despite significant progress in recent years, further research is necessary to fully understand the spectrum of haemodynamic changes after SCI.