Severe night sweating treated by oxybutynin.

Sleep hyperhidrosis is defined as profuse nocturnal sweating that disrupts sleep. Although the mechanism is unknown, some cases are secondary to hot flushes during the menopausal period, medical, mental and sleep disorders, and medication, while dysregulation of thermoregulation during sleep is suspected in primary cases. We present the case of a woman with severe primary sleep hyperhidrosis, occurring nightly for 23 years, which definitively resolved after brief treatment with oxybutynin (a muscarinic receptor-blocking anticholinergic). An ammoniacal odor in the sweat and a sensation of coldness on awakening during sweating episodes suggest that the mechanism of her night sweating was not an exacerbation of thermoregulation during the night but shares the mechanical properties of emotional/psychological sweating. This extreme case of sleep hyperhidrosis was treated with excellent efficacy and minimal side effects using oxybutynin, which could benefit other patients with nighttime discomfort. CITATION: Dias L, Martinot C, Vaillant G, Arnulf I. Severe night sweating treated by oxybutynin. J Clin Sleep Med. 2024;20(1):169-172.

Post cerebral venous thrombosis headache - Prevalence, mechanisms and risk factors.

INTRODUCTION: Headache after cerebral venous thrombosis (post-CVT headache [PCH]) is a common complaint during follow-up. Risk factors and their pathophysiology are not well known. We studied PCH prevalence in CVT patients, its pathophysiology, and possible risk factors. MATERIALS AND METHODS: We performed a retrospective observational study of patients admitted to a tertiary hospital between 2006 and 2019 with CVT and at least one follow-up appointment. We diagnosed PCH when patients reported headaches during the follow-up visit. Recanalization was retrospectively assessed by two neuroradiologists using the first available follow-up MRI/ MRV, and the PRIORITy-CVT study classification. RESULTS: Of 131 patients, sixty (60/131, 45.8 %) reported PCH at the 3-month follow-up. Of these PCH, 9 had previous migraine (9/60, 5.0 %) and 13 previous tension-type headaches (13/60, 21.6 %), before CVT. Forty-four (44/60, 73.3 %) PCH patients had de novo headache: 21 (21/60, 35.0 %) de novo tension-type headaches; 6 (6/60, 10.0 %) de novo migraine; 6 [(6/60, 10.0 %) secondary headache disorders: 3 due to dural arteriovenous fistula, 2 due to intracranial hypertension, and 1 recurrent CVT], and 11 other headache types. Most patients had at least partial recanalization, with no difference in PCH frequency amongst recanalization subgroups (p = 0.598). Premorbid depression (p = 0.009, OR 7.9, 95 % CI 1.6-31.4) increased the odds ratio of PCH, while superior sagittal sinus thrombosis (p = 0.005, OR 0.15, 95 % CI 0.03-0.56) decreased it. DISCUSSION: Our study shows that PCH is a common finding after CVT and elucidates potential risk factors. PCH is common in patients with previous or de novo primary headache. In PCH patients without previous headache, secondary causes of headache, namely related to CVT complications, should be excluded. PCH is also increased in patients with premorbid depression. There was no statistically significant difference in PCH amongst the PRIORITy-CVT recanalization subgroups, but most patients had at least partial recanalization.

Seizures in cerebral venous thrombosis - A retrospective analysis of a tertiary centre cohort.

BACKGROUND: Seizures are common in cerebral venous thrombosis (CVT). The occurrence of acute symptomatic seizures (ASS) has implications for patients' management, with some patients developing unprovoked late seizures (ULS). We aimed to determine risk factors for the development of ASS, ULS, and seizure recurrence (SR) in patients with CVT. METHODS: We performed an observational retrospective analysis of 141 patients with CVT. We recorded the occurrence of seizures, their time relation to the first-symptom onset, and their relation with demographic, clinical, CVT risk factors, and radiological findings. Seizure recurrence (total recurrency, recurrent ASS, and recurrent LS), potential risk factors, and the use of antiepileptic drugs (AED) were also analysed. RESULTS: Thirty-two (22.7%) patients developed seizures: 23 (16.3%) were ASS and 9 (6.3%) ULS. After multivariable logistic regression, seizure patients had more focal deficits (p = 0.033), parenchymal lesion (p < 0.001), sagittal sinus thrombosis (p = 0.007). In ASS, more frequent focal deficits (p = 0.001), encephalopathy (p = 0.001), mutation in V Leiden factor (p = 0.029), and parenchymal brain lesions (p < 0.001) were observed. ULS patients were younger (p = 0.049) and took more hormonal contraceptives (p = 0.047). Thirteen (9.2%) patients suffered SR (2 recurrent ASS only, 2 recurrent LS only, 2 both acute and recurrent LS), which was more frequent in patients with focal deficits (p = 0.013), infarct with haemorrhagic transformation (p = 0.002), or previous ASS (p = 0.001). CONCLUSION: The occurrence of seizures in patients with CVT is related to focal deficits, structural parenchymal lesions, and superior sagittal sinus thrombosis. SR is frequent, even in patients under AED. This shows the important impact that seizures have on CVT and its long-term management.

Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene.

Alzahrani-Kuwahara syndrome (ALKUS) is a neurodevelopmental disorder that includes microcephaly, facial dysmorphism, and variable congenital and eye malformations. We present the first case of ALKUS described in the European population caused by two variants in compound heterozygosity of the gene SMG8. We present a patient with two variants in compound heterozygosity in the SMG8 gene identified by in trio whole exome sequencing based in next generation sequencing (xGEN® Exome Research Panel, Nextseq550 platform). International case reporting (CARE) criteria were followed. Patient written consent was obtained through legal responsible persons. We describe a 27-year-old male, the second child of a healthy and non-consanguineous couple, whose genetic analysis showed two variants in compound heterozygosity, c.1159C > T (p.Arg387*) and c.2407del (p.Arg803Glyfs*10), in the SMG8 gene, both classified as likely pathogenic. As described by Fatema Alzahrani et al. in a series of eight patients, our patient had global developmental delay with impaired intellectual development, facial dysmorphism, and limb disproportion. Additionally, our patient had lower limb spastic paraparesis, marked osteotendinous hyperreflexia with extensor plantar response bilaterally and paretic gait. Our patient resembles the phenotype described by Fatema Alzahrani et al., however, he is the first patient with two SMG8 deleterious variants in compound heterozygosity, and the first to exhibit pyramidal signs and gait disorder as part of the phenotype.

Tocilizumab for severe refractory primary central nervous system vasculitis: A center experience.

BACKGROUND: Primary Central Nervous System Vasculitis (PCNSV) is responsible for 3%-5% of strokes before age 50. It presents with clinical, radiological, and pathological variability. Optimal management is unknown given the absence of randomized clinical trials. AIMS OF THE STUDY: Explore whether tocilizumab, an anti-interleukin-6 monoclonal antibody, is an effective treatment for refractory PCNSV. METHODS: Patients with PCNSV treated with tocilizumab in a single tertiary center were reviewed. RESULTS: Three patients were identified. In two of them, MRI-revealed ischemic lesions. The other presented with a subcortical hemispheric pseudotumoral lesion. Brain biopsy was inconclusive in two patients. Due to a significant number of relapses and clinical deterioration despite other immunosuppressive drugs, tocilizumab was initiated and induced a long remission period up to 44 months. Observed side effects were a fungic infection, neutropenia and thrombocytopenia (both transitory), and a pulmonary embolism in one of the cases. CONCLUSIONS: Tocilizumab might be a therapeutic option for PCNSV (Class IV evidence), given its efficacy and safety. We propose a novel pathway for diagnosis and therapeutics of PCNSV with the purpose of improving the diagnosis, monitoring, and prognosis of this heterogeneous disorder, setting the framework for future use of tocilizumab in this condition.

Acute Inflammation in Cerebrovascular Disease: A Critical Reappraisal with Focus on Human Studies.

Recent attention has been focused on the field of inflammatory biomarkers associated with vascular disorders, regarding diagnosis, prognosis, and possible therapeutical targets. In this study, we aimed to perform a comprehensive review of the literature regarding the use of inflammatory biomarkers in stroke patients. We searched studies that evaluated inflammation biomarkers associated with Cerebrovascular Disease (CVD), namely, ischemic Stroke (IS), Intracerebral Hemorrhage (ICH) and Cerebral Venous Thrombosis (CVT). As of today, neutrophil-lymphocyte ratio (NLR) seems the be the most widely studied and accepted biomarker for cerebrovascular disease due to its easy access and availability. Although demonstrated as a prognostic risk factor, in IS, ICH and CVT, its diagnostic role is still under investigation. Several other prognostic factors could be used or even combined together into a diagnostic or prognostic index. Multiple inflammatory biomarkers appear to be involved in IS, ICH, and CVT. Blood inflammatory cells, easily measured and accessible at admission may provide information regarding accurate diagnosis and prognosis. Although not yet a reality, increasing evidence exists to suggest that these may become potential therapeutic targets, likely influencing or mitigating complications of CVD and improving prognosis. Nevertheless, further larger, well-designed randomized clinical trials are still needed to follow up this hypothesis.

Risk factors for idiopathic myelitis at admission and predictors for late diagnostic change.

Immune-mediated myelopathy (IMM) diagnosis is challenging, and its etiology may remain unclear despite extensive investigation. We evaluated diagnostic changes in IMM patients during follow-up. We included 80 patients, 61.3% female, with median follow-up time 62.5 months. Diagnoses at discharge were: 48.8% Multiple Sclerosis-IMM (MS-IMM), 32.5% I-IMM, 11.3% Neuromyelitis Optica Spectrum Disorders-IMM (NMOSD-IMM), 1.3% MOG encephalomyelitis (MOGAD), and 6.2% Others IMM (O-IMM). Twenty-two  patients (27.5%) changed diagnosis (median 15.5  months): 68.8% MS-IMM, 12.5%  NMOSD-IMM, 3.8% MOGAD, 10.0% I-IMM, and 5.0% O-IMM. Most patients that changed diagnosis were I-IMM. Predictive factors for diagnostic change in I-IMM were: autonomous gait (p = 0.029), lesions suggestive of MS (p = 0.039), higher number of lesions (p = 0.043), lesions length < 3 vertebral bodies (p = 0.033), cervical involvement (p = 0.038), and lower EDSS at admission (p = 0.013). Etiologic reclassifications in IMM are common, therefore patients require an appropriate follow-up time to increase diagnostic accuracy.

Cerebral Venous Thrombosis after BNT162b2 mRNA SARS-CoV-2 vaccine.

The development of SARS-CoV-2 vaccines has raised several concerns regarding venous thromboembolism, namely cerebral venous thrombosis. Although cerebral venous thrombosis has been reported after administration of a viral vector vaccine, due to a possible auto-immune mechanism inducing thrombocytopenia, the same has not happened in mRNA vaccines. We report two cases of cerebral venous thrombosis, shortly after administration of mRNA vaccine. In both patients, there was no evidence of thrombocytopenia or antiplatelet antibodies, and alternative causes for cerebral venous thrombosis were found. As such, despite the temporal relation of both cases to vaccine administration, these types of cerebral venous thrombosis do not seem to be pathophysiological different from cerebral venous thrombosis not associated to SARS-CoV-2 vaccination. Continuous pharmacovigilance is necessary to monitor possible new events and clarify this association.

Headache teleconsultation in the era of COVID-19: Patients' evaluation and future directions.

BACKGROUND AND PURPOSE: Literature regarding headache teleconsultation and patient satisfaction is scarce. The SARS-CoV-2 pandemic led to the restructuring of traditional clinical activity by adopting telemedicine. Our objectives were to evaluate patients' satisfaction with headache teleconsultation by telephone during the SARS-CoV-2 pandemic and assess patients' preferred model of appointment (face-to-face, teleconsultation by telephone, or both). METHODS: Patients with a previous diagnosis of primary headache or neuropathies and facial pain disorders, and at least one telephone headache visit during the first wave of COVID-19, filled out an online questionnaire regarding sociodemographic parameters, satisfaction with teleconsultation, and preferred model of appointment. RESULTS: We included 83 patients (valid response rate of 64.3%); most had migraine (83.1%). Regarding teleconsultation, 81.9% considered this model adequate for follow-up, 88.0% were satisfied with the information provided about the disease/treatment, and 73.5% were satisfied with the medication modification. Ninety percent would agree with a new tele-evaluation if stable after the pandemic. The mixed model was the preferred medical consultation type for the postpandemic period (43.4%), followed by face-to-face visits (33.7%). CONCLUSIONS: Patients were satisfied with the headache teleconsultation during the COVID-19 era. However, an exclusive model of telemedicine does not seem suitable for monitoring all patients. A mixed approach could be integrated into clinical practice after the pandemic to optimize health care.

Inflammatory Biomarkers Correlate with Time Evolution in Cerebral Venous Thrombosis.

OBJECTIVES: We aimed to analyse the relationship between specific inflammatory biomarkers' levels and the temporal pattern of cerebral venous thrombosis (CVT) symptoms. MATERIALS AND METHODS: We performed a retrospective study of adult CVT patients admitted between Jan 01 2006 and Dec 31 2019. We excluded patients with infection at admission, autoimmune, inflammatory or haematological disorders. We evaluated serum inflammatory biomarkers at admission: C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), absolute neutrophil count, absolute lymphocyte count, platelet count, monocyte count, neutrophile-to-lymphocyte ratio (NLR), lymphocyte-to-monocyte ratio (LMR), platelet-to-lymphocyte ratio (PLR), bilirubin and monocyte-to-HDL ratio (M-HDLR). These were evaluated according to the time from symptom onset (acute, subacute or chronic). RESULTS: We included 78 patients with CVT (mean age 41 ± 13 years). Neutrophil count (p = 0.017), monocyte (p = 0.024), CRP (p = 0.004), NLR (p<0.001) and LMR (p = 0.004) showed significant variation with CVT duration. Acute onset CVT exhibited higher absolute neutrophil count and NLR but lower LMR. The subacute group had higher monocyte values, and the chronic phase patients displayed higher LMR, but lower CRP. ESR, PLR and M-HDLR showed a tendency to decrease in the chronic phase. We did not observe any statistical difference between the duration of symptoms and levels of bilirubin. CONCLUSIONS: CVT patients present a differential inflammatory pattern along the time course of the disease: higher NLR and lower LMR in acute phase, and higher LMR and lower CRP level during the chronic phase. These differences may help to ascertain the onset of poorly defined symptoms and provide input regarding anticoagulation management.

Spinal cord infarction in children: Can gymnastics be a cause?

INTRODUCTION: Spinal cord infarction (SCI) in children is rare and difficult to diagnose. Fibrocartilaginous embolism (FCE) is probably the underlying cause for some unexplained cases of spinal cord infarcts. Abrupt back pain followed by a progressive syndrome of myelopathy appears to be the typical presentation, with a close temporal relationship between the onset of symptoms and preceding minor trauma. Supportive care and rehabilitation are essential in the treatment of children with SCI. CASE REPORT: A previously healthy 12-year-old girl who practiced acrobatic gymnastics was admitted to a rehabilitation centre 14 days after being diagnosed with an acute anterior SCI with no identified cause. Sensory modality of pin prick and light touch were impaired, with the former more significantly affected. She was not able to run and had difficulty on monopodal standing and performing motor sequencing. Additionally, she mentioned ineffective cough along with flatus incontinence and normal bladder function. After a 4-week multidisciplinary rehabilitation program her neurologic deficits improved. DISCUSSION: Given the patient's age and clinical presentation, a literature review led to the consideration of FCE as the most likely definitive diagnosis. It should be recognized as a cause of SCI especially in those involved in sport activities, even if previous trauma is denied.

Avaliação funcional da pessoa pós fratura do colo do fémur / Functional evaluation of the person after a femoral neck fracture

As fraturas do colo do fémur, são um dos problemas músculo esqueléticos mais comuns na pessoa idosa, constituem um problema a nível mundial com consequências no sistema de cuidados de saúde e na pessoa individualmente e conduzem ao aumento da dependência da pessoa nas atividades de vida diária (AVDs). Assim, com o presente estudo pretendemos avaliar o grau de dependência da pessoa após fratura do colo do fémur aquando da alta hospitalar, bem como analisar alguns fatores que poderão estar relacionados com a dependência da pessoa, conhecer as alterações funcionais e evidenciar a necessidade de cuidados de enfermagem de reabilitação no processo de reabilitação da pessoa. Para atingir estes objetivos, procedemos à realização de um estudo de natureza quantitativa, com características descritivo-correlacional, com uma amostra não probabilística constituída por trinta indivíduos que cumpriram cumulativamente os seguintes critérios: doentes internados nos serviços de Ortotraumatologia do Hospital de Santo André EPE- Leiria, com fratura do colo do fémur e sem deterioração intelectual grave na escala de Pfeiffer. Como instrumento de colheita de dados utilizamos o questionário composto por questões que nos permitem resultados que caracterizam a amostra, e pelas seguintes escalas: Índice de Barthel, Escala de Apoio Social e Escala de avaliação cognitiva de Pfeiffer. Os resultados obtidos permitem-nos concluir que as pessoas com melhor função cognitiva apresentam menor dependência nos itens do Índice de Barthel: alimentação; higiene pessoal; uso do sanitário e transferências e no total do Índice de Barthel. Quanto ao apoio social constatamos que as pessoas com menor dependência no banho apresentam menor necessidade de apoio instrumental e apoio total, as pessoas com maior dependência no uso do vaso sanitário expõem maior necessidade de apoio emocional, e as que apresentam maior dependência nas dejeções, maior necessidade de apoio informacional.