RESUMO
Background: Driving may be adversely affected by any movement disorder, but has been mostly studied in Parkinson's disease (PD). Few studies have addressed driving impairment in patients with Huntington's disease (HD); driving in other movement disorders such as dystonia, blepharospasm and Tourette syndrome (TS) has not been adequately evaluated. Objectives: The aim of this review is to summarize the findings of driving impairment in movement disorders and evaluate the usefulness of clinical tools in guiding clinicians whether to refer patients for driving assessment. Methods: A review of literature was performed on PubMed and articles on driving and movement disorders were identified using a Boolean phrase. Results: We were able to identify 66 articles that fulfilled the target subject: impairment of driving in PD, cervical dystonia, blepharospasm, HD and TS. We also included articles discussing the role of driving rehabilitation in patients with movement disorders. Conclusions: Driving is often impaired in patients with PD and other movement disorders not only due to motor symptoms but also because of cognitive and behavioral co-morbidities. Certain screening tools may be helpful in guiding the clinician in referring the patients for driving assessment.
RESUMO
OBJECTIVES: We aimed to review our "real-world" experience with the vesicular monoamine transporter 2 (VMAT2) inhibitors tetrabenazine, deutetrabenazine, and valbenazine for treatment of Tourette syndrome, focusing on therapeutic benefits, side effect profile, and accessibility for the off-label use of these drugs. METHODS: We performed a retrospective chart review, supplemented with a telephone survey, of all our patients treated for their tics with VMAT2 inhibitors over a period of 4 years from January 2017 until January 2021. RESULTS: We identified 164 patients treated with the various VMAT2 inhibitors (tetrabenazine, n = 135; deutetrabenazine, n = 71; valbenazine, n = 20). Data on the mean treatment duration and daily dosages were collected. The response to VMAT2 inhibitors was assessed by a Likert scale by comparing the symptom severity before initiation and while on treatment. Side effects were mild and mostly consisted of depression as the major side effect but there was no suicidality reported. CONCLUSION: VMAT2 inhibitors are effective and safe in the treatment of tics associated with Tourette syndrome but are not readily accessible by patients in the United States, partly because of lack of approval by the Food and Drug Administration.
Assuntos
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Discinesia Tardia , Tiques , Síndrome de Tourette , Humanos , Estados Unidos , Tetrabenazina/uso terapêutico , Tetrabenazina/farmacologia , Síndrome de Tourette/tratamento farmacológico , Tiques/tratamento farmacológico , Estudos Retrospectivos , Proteínas Vesiculares de Transporte de MonoaminaRESUMO
Uterine leiomyosarcoma distant metastasis is common, and lung metastasis has been reported. However, unique cases have been identified either with late onset of metastatic disease or with large size of lung metastasis. A typical approach to avoid metastasis would be a hysterectomy. Nonetheless, metastatic recurrence is common. We encountered a case at our hospital with leiomyosarcoma metastatic to the lungs. Lung metastasis was noted to be 17 cm in diameter. This size has not yet been reported in the literature to the best of our knowledge.
RESUMO
BACKGROUND Prion disease (PrD) is one of the rapidly progressive dementias. It typically requires several diagnostic criteria to fulfill a probable diagnosis, as definite diagnosis is based on isolated brain biopsy. There has been much debate on a possible infectious etiology of PrD. Viral infections are commonly pathologic in most neurodegenerative conditions. In PrD, misfolded proteins can be contagious and act as infective proteins, regardless of the pathologic agent. There is evidence that COVID-19 can result in neurologic manifestations, and neurodegeneration has been reported in the literature. There are several case reports describing parkinsonism after COVID-19, with Parkinson's disease in particular noted in COVID-19. Few cases of PrD were reported after COVID-19 infection. We identified 1 case of PrD in the setting of COVID-19 at our hospital. CASE REPORT We report the case of a 62-year-old man admitted to Mount Sinai Queens Hospital Center, who presented with rapidly progressive dementia along with difficulty walking and myoclonus. All workup results were negative. He underwent MRI brain, but results were not revealing. Due to the high clinical suspicion, CSF protein 14-3-3 testing was ordered and was positive. Clinically, he experienced worsening neurological function after having been COVID-19-positive on admission. The case fulfilled the probable diagnostic criteria for diagnosing PrD. The patient continued to deteriorate and died due to the rapid progression of his condition. CONCLUSIONS Our case demonstrates the potential correlation of COVID with neurodegenerative conditions, especially prion disorders. While such cases are highly likely to be due to COVID-19, there is no definite evidence beyond coincidental findings. Future studies might be required to establish this correlation.
Assuntos
COVID-19 , Demência , Doenças Priônicas , Masculino , Humanos , Pessoa de Meia-Idade , Biópsia , HospitalizaçãoRESUMO
BRASH syndrome, characterized by bradycardia, renal failure, atrioventricular (AV) blockage, shock, and hyperkalemia, is an emerging clinical entity that challenges healthcare practitioners. This case report presents a unique instance of BRASH syndrome with an atypical presentation in a 56-year-old woman with a past medical history of hypertension, diabetes, and chronic kidney disease. Initial laboratory results revealed severe normocytic anemia, thrombocytopenia, renal dysfunction, acidosis, and hyponatremia, alongside hyperkalemia and hypothyroidism. An electrocardiogram depicted sinus arrest with atrial escape rhythms, indicative of severe bradycardia. Imaging studies revealed pleural effusion and ground glass opacities. Management involved anti-hyperkalemic measures, discontinuation of AV nodal-blocking agents, thyroid hormone replacement, and vasopressor support. The patient eventually improved following continuous renal replacement therapy (CRRT) and hemodialysis. The diagnosis of BRASH syndrome emerged as the most likely due to recurrent admissions with similar clinical features. BRASH syndrome represents a complex interplay between AV nodal block and hyperkalemia, leading to severe bradycardia and shock, often affecting older patients with limited renal reserve. While the current literature primarily consists of case reports, raising awareness of BRASH syndrome is crucial for timely intervention and improved patient outcomes. Further research is needed to better understand the mechanisms underlying this syndrome.
RESUMO
Point-of-care ultrasound (POCUS) has emerged as a powerful diagnostic tool in healthcare, offering rapid and cost-effective evaluation of cardiovascular and respiratory conditions. This case series highlights the vital role of POCUS in diagnosing life-threatening conditions and emphasizes the need for adequate training in its use. The first case describes a patient with chest pain, where POCUS revealed findings suggestive of thoracic aortic dissection, leading to timely transfer and surgical repair. The second case involves a patient with altered mental status and hypoxia, where POCUS identified a right atrial thrombus leading to thrombectomy. The discussion explores the expanding applications of POCUS in various medical specialties, including critical care and trauma, and its potential to improve patient outcomes. While POCUS has shown great promise, it remains a user-dependent technology, necessitating comprehensive training and collaboration among healthcare professionals to ensure its effective and safe use.
RESUMO
Tracheal stenosis (TS) is an iatrogenic sequela after intubation or tracheostomy that is increasing despite technological improvement and skilled respiratory care in the ICU. According to the studies, the rate of TS varies from 10 to 22%, but only 1-2% of these stenoses are severe and present with inspiratory dyspnea that does not respond to medical management. Bronchoscopy is considered the most appropriate diagnostic test, and laser surgery and tracheobronchial stenting are the most commonly performed procedures for tracheal stenosis. However, alternative treatment options, including cryotherapy for inoperable patients, have yet to be studied widely. As the number of patients requiring ICU admission with mechanical intubation is increasing, it is crucial to acknowledge this complication and consider alternative management options. Here we present a review of the use of cryotherapy for post-intubation tracheal stenosis. Pubmed, Cochrane, and EMBASE databases were inquired for studies performed using the keywords 'airway stricture' OR 'airway obstruction' AND 'post-intubation' OR 'post-extubation' OR 'tracheostomy' AND 'cryotherapy'. After the primary and secondary screening, five studies were included in the analysis. We included 67 patients were included in the analysis, with a mean age of 50.2 (range: 42-55) years. Tracheal stenosis and subglottic stricture were the most common sites of stenosis. Twenty-nine patients were treated with cryotherapy only, while the rest 38 patients had cryotherapy followed by balloon dilation. After the intervention, 48 patients experienced improvement, five experienced no change in the symptoms, 13 patients were asymptomatic before the treatment, and one died. No complication was reported in 65 patients, with only minor complications reported in rest. Although, there is no clear treatment protocol for patients with inoperable tracheal stenosis. Our review demonstrates that cryotherapy for inoperable tracheal stenosis can be an acceptable alternative treatment with significant clinical improvement. Additionally, cryotherapy has fewer adverse effects compared to other treatment options.
RESUMO
BACKGROUND: Neurological symptoms are common manifestation in acute COVID-19. This includes hyper- and hypokinetic movement disorders. Data on their outcome, however, is limited. METHODS: Cases with new-onset COVID-19-associated movement disorders were identified by searching the literature. Authors were contacted for outcome data which were reviewed and analyzed. RESULTS: Movement disorders began 12.6 days on average after the initial onset of COVID-19. 92% of patients required hospital admission (mean duration 23 days). In a fraction of patients (6 of 27; 22%; 4 males/2 females, mean age 66.8 years) the movement disorder (ataxia, myoclonus, tremor, parkinsonism) was still present after a follow-up period of 7.5 ± 3 weeks. Severe COVID-19 in general and development of encephalopathy were risk factors, albeit not strong predictors, for the persistence. CONCLUSIONS: The prognosis of new-onset COVID-19-associated movement disorder appears to be generally good. The majority recovered without residual symptoms within several weeks or months. Permanent cases may be due to unmasking of a previous subclinical movement disorder or due to vascular/demyelinating damage. Given the relatively low response rate of one third only and the heterogeneity of mechanisms firm conclusions on the (long-term) outome cannot, however, be drawn.
Assuntos
COVID-19 , Transtornos dos Movimentos , Masculino , Feminino , Humanos , Idoso , COVID-19/complicações , Seguimentos , Transtornos dos Movimentos/etiologia , Fatores de Risco , Tremor/complicaçõesRESUMO
Chronic thromboembolic pulmonary hypertension is a deadly condition that results from thrombus organization and formation of fibrous tissue in the large and/or middle-sized pulmonary artery; as a result, pulmonary vascular resistance increases resulting in pulmonary hypertension and right heart failure. Untreated chronic pulmonary embolism causes decompensated right heart failure. Early diagnosis and appropriate treatment are crucial for improving survival. Pulmonary endarterectomy (PEA) is the treatment of choice as it reduces pulmonary vascular resistance. For patients who are not a candidate for PEA, alternative treatment options improve quality of life.
RESUMO
Gastrointestinal stromal tumors (GISTs) tend to be associated with other tumors. In certain familial cancer syndromes, GIST has been associated with breast cancer or other endocrine tumors. Multiple endocrine neoplasia syndrome along with certain other genomic mutations such as succinate dehydrogenase complex mutations described GIST as one of the potential tumors of the syndrome. There has not yet been a definite association between GIST and meningioma. We present a case of a patient with a GIST who was later found to have a meningioma on incidental brain imaging. Despite being a benign tumor not requiring additional intervention, it is quite apparent that providers need to have a low threshold to scan for other tumors if suspicious symptoms arise.
RESUMO
Marijuana is among the most widely used recreational drugs in the United States. The most common side effects of marijuana include mood changes, impaired memory, impaired body movements, and hallucination. Chronic use of marijuana is associated with transaminitis and hepatomegaly. Reported cases of acute hepatitis secondary to heavy marijuana smoking are very rare.
RESUMO
BACKGROUND: Driving ability may be impaired in patients with various movement disorders, but it has not been studied in patients with Tourette syndrome (TS). CASES: We describe a series of 6 patients from our large cohort of TS patients followed in our movement disorders clinic in whom severe tics have had interfered with their driving abilities. The motor tics involved facial muscles and caused visual impairment because of frequent blinking and transient blepharospasm (dystonic tic), but complex limb and truncal tics also seriously impacted their driving. CONCLUSIONS: Although majority of patients with TS have no functional impairment, severe motor tics in some patients may adversely affect their driving ability, potentially causing danger to themselves and others. Screening for such troublesome tics should be considered in patients with TS, particularly in teenagers who are being evaluated for driver's licensing.
RESUMO
Electrophysiology plays a determinant role in Guillain-Barré syndrome (GBS) diagnosis, classification, and prognostication. However, traditional electrodiagnostic (EDX) criteria for GBS rely on motor nerve conduction studies (NCS) and are suboptimal early in the course of the disease or in the setting of GBS variants. Sensory nerve conduction studies, including the sural-sparing pattern and the sensory ratio are not yet included in EDX criteria despite their well-established role in GBS diagnosis. The aim of this review is to discuss the diagnostic value of sensory NCS in GBS, their role in establishing the diagnosis and predicting the outcome according to the various subtypes of the disease.
Assuntos
Eletrodiagnóstico/métodos , Síndrome de Guillain-Barré/diagnóstico , Condução Nervosa , Células Receptoras Sensoriais/fisiologia , Eletrodiagnóstico/normas , Humanos , Nervos Periféricos/fisiopatologiaRESUMO
Tremor is an important and common symptom in patients with multiple sclerosis (MS). It constituted one of the three core features of MS triad described by Charcot in the last century. Tremor could have a drastic impact on patients' quality of life. This paper provides an overview of tremor in MS and future perspectives with a particular emphasis on its epidemiology (prevalence: 25-58%), clinical characteristics (i.e., large amplitude 2.5-7 Hz predominantly postural or intention tremor vs. exaggerated physiological tremor vs. pseudo-rhythmic activity arising from cerebellar dysfunction vs. psychogenic tremor), pathophysiological mechanisms (potential implication of cerebellum, cerebello-thalamo-cortical pathways, basal ganglia, and brainstem), assessment modalities (e.g., tremor rating scales, Stewart-Holmes maneuver, visual tracking, digitized spirography and accelerometric techniques, accelerometry-electromyography coupling), and therapeutic options (i.e., including pharmacological agents, botulinum toxin A injections; deep brain stimulation or thalamotomy reserved for severe, disabling, or pharmaco-resistant tremors). Some suggestions are provided to help overcome the unmet needs and guide future therapeutic and diagnostic studies in this complex disorder.
RESUMO
Background: Most multiple sclerosis (MS) patients will develop walking limitations during the disease. Sustained-release oral fampridine is the only approved drug that will improve gait in a subset of MS patients. Objectives: (1) Evaluate fampridine cortical excitability effect in MS patients with gait disability. (2) Investigate whether cortical excitability changes can predict the therapeutic response to fampridine. Method: This prospective observational study enrolled 20 adult patients with MS and gait impairment planned to receive fampridine 10 mg twice daily for two consecutive weeks. Exclusion criteria included: Recent relapse (<3 months), modification of disease modifying drugs (<6 months), or Expanded Disability Status Scale (EDSS) score >7. Neurological examination, timed 25-foot walk test (T25wt), EDSS, and cortical excitability studies were performed upon inclusion and 14 days after initiation of fampridine. Results: After treatment, the mean improvement of T25wt (ΔT25wt) was 4.9 s. Significant enhancement of intra-cortical facilitation was observed (139% versus 241%, p = 0.01) following treatment. A positive correlation was found between baseline resting motor threshold (rMT) and both EDSS (r = 0.57; p < 0.01) and ΔT25wt (r = 0.57, p = 0.01). rMT above 52% of the maximal stimulator output was found to be a good predictor of a favorable response to fampridine (accuracy: 75%). Discussion: Fampridine was found to have a significant modulatory effect on the cerebral cortex, demonstrated by an increase in excitatory intracortical processes as unveiled by paired-pulse transcranial magnetic stimulation. rMT could be useful in selecting patients likely to experience a favorable response to fampridine.
RESUMO
BACKGROUND: Antidotes stocking is a critical component of hospital care for poisoned patients in emergency. Antidote stocking represents a major health challenge worldwide and in Lebanon. Systematic data monitoring of antidote stocking in Lebanese hospitals is lacking. The objective of this study is to assess the adequacy of antidotes stocking in Lebanese hospitals according to type and quantity and explore the characteristics associated with their differential availability. METHODS: Data collection to assess antidote availability and its correlate was undertaken through a self-administered questionnaire. The questionnaires were distributed by the unit of surveillance at the Ministry of Public Health to eligible hospitals providing emergency care services. The list of essential antidotes was adapted from the World Health Organization (WHO) list and the British Columbia Drug and Poison Information Centre. RESULTS: Among the 85 Lebanese hospitals surveyed none had in stock all the 35 essential antidotes required. The frequency of stocking by type of antidote varied from a minimum of 1.2 % of the hospitals having a (cyanide kit) to 100 % availability of (atropine and calcium gluconate). Teaching hospitals and those with a large bed-capacity reported a higher number of available antidotes for both immediate and non-immediate use than non-teaching hospitals while controlling for the hospital geographical region and public vs private sector. CONCLUSION: The Lebanese hospitals have a suboptimal stock of essential antidotes supply. It is recommended that the Lebanese Ministry of Public Health monitors closely on the hospital premises the adequacy and availability of essential antidotes stock.