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Cirugia Y Cirujanos 2020Wallenberg syndrome, or lateral medullar syndrome, is the clinical presentation of the infarct in the territory of posterior inferior cerebellar artery. Its signs and... (Review)
Review
Wallenberg syndrome, or lateral medullar syndrome, is the clinical presentation of the infarct in the territory of posterior inferior cerebellar artery. Its signs and symptoms include vertigo, nystagmus, diplopia, ipsilateral Horner syndrome, facial ruddiness and dry skin, dysphonia, dysphagia, dysarthria, ipsilateral loss of gag reflex, ipsilateral ataxia, ipsilateral impaired taste, ipsilateral facial pain and paresthesia, decreased ipsilateral blink reflex, contralateral hypoalgesia and thermoanaesthesia in the trunk and limbs; and ipsilateral facial hypoalgesia and thermoanaesthesia. Neuroanatomical knowledge is essential to its comprehension, study and diagnosis, because the classic neurological manifestations are easy to explain and understand if function and localization of affected anatomical structures are known as if the posterior cerebral circulation is.
Topics: Cerebellum; Cerebral Infarction; Deglutition Disorders; Dysphonia; Facial Pain; Horner Syndrome; Humans; Lateral Medullary Syndrome; Medulla Oblongata; Nystagmus, Pathologic; Reflex, Abnormal; Sensation Disorders; Vertigo
PubMed: 32539005
DOI: 10.24875/CIRU.19000801 -
JAAPA : Official Journal of the... Aug 2020Low back pain is a frequent complaint of patients seeking care at private offices, ambulatory clinics, and EDs. Key signs and symptoms can guide clinicians in... (Review)
Review
Low back pain is a frequent complaint of patients seeking care at private offices, ambulatory clinics, and EDs. Key signs and symptoms can guide clinicians in differentiating acute and persistent mechanical low back pain from back pain resulting from a specific cause. Awareness of these findings can reduce the number of missed or incorrect diagnoses that lead to poor patient outcomes. The ability to recognize the red flag findings of serious causes of low back pain ensures prompt diagnosis and initiation of appropriate treatment. This article highlights the history and physical examination findings that will improve identification of red flags associated with emergency or serious causes.
Topics: Age Factors; Anticoagulants; Diagnostic Errors; Female; Fever; Humans; Low Back Pain; Lumbar Vertebrae; Male; Motor Disorders; Neoplasms; Reflex, Abnormal; Risk Factors; Thrombophilia
PubMed: 32740106
DOI: 10.1097/01.JAA.0000684112.91641.4c -
World Journal of Urology Oct 2018Spinal cord injury (SCI) usually affects younger age groups with male preponderance. The most common traumatic cause is road traffic accident followed by sports... (Review)
Review
Spinal cord injury (SCI) usually affects younger age groups with male preponderance. The most common traumatic cause is road traffic accident followed by sports accidents and gun-shot injuries. Infections and vascular events make up non-traumatic causes. There is regional variance in incidence and prevalence of SCI. Most systematic reviews have been undertaken from USA, Canada, and Australia with only few from Asia with resultant difficulty in estimation of worldwide figures. Overall, the incidence varies from 12 to more than 65 cases/million per year. The first peak is in young men between 15 and 29 years and second peak in older adults. The average age at injury is 40 years, with commonest injury being incomplete tetraplegia followed by complete paraplegia, complete tetraplegia, and incomplete paraplegia. The bladder function is reliant on both central and peripheral nervous systems for co-ordination of storage and voiding phases. The pathophysiology of bladder dysfunction can be described as an alteration in micturition reflex. It is postulated that a new spinal reflex circuit develops which is mediated by C fibers as response to reorganization of synaptic connections in spinal cord. This is responsible for the development of neurogenic detrusor overactivity (NDO). Various neurotrophic hormones like nerve growth factor affect the morphological and physiological changes of the bladder afferent neurons leading to neuropathic bladder dysfunction. A suprasacral SCI usually results in a voiding pattern consistent with NDO and sphincter dyssynergia. Injury to either the sacral cord or cauda equina results in detrusor hypoactivity/areflexia with sphincter weakness.
Topics: Accidental Falls; Accidents, Traffic; Afferent Pathways; Athletic Injuries; Humans; Neoplasms; Nerve Fibers, Unmyelinated; Nerve Growth Factors; Reflex, Abnormal; Risk Factors; Spinal Cord Injuries; Spinal Diseases; Urinary Bladder, Neurogenic; Urinary Bladder, Overactive; Urinary Bladder, Underactive; Urodynamics; Violence
PubMed: 29752515
DOI: 10.1007/s00345-018-2301-z -
German Medical Science : GMS E-journal 2015Guillain-Barré syndrome (GBS) is a fulminant polyradiculoneuropathy that is acute, frequently severe and autoimmune in nature. Etiology of GBS is incompletely...
INTRODUCTION
Guillain-Barré syndrome (GBS) is a fulminant polyradiculoneuropathy that is acute, frequently severe and autoimmune in nature. Etiology of GBS is incompletely understood, prognosis is usually good with early detection and prompt treatment. This retrospective study was done to evaluate clinical profile, epidemiological, laboratory, and electrodiagnostic features of patients with GBS and mode of management, complications and prognostic factors.
METHODS
Data of 1,166 patients admitted with GBS or presented to outpatient department (previous medical records) with GBS between January 2003 and January 2014 were analyzed.
RESULTS
No difference in genders noted. Around 35% of patients are above 50 years of age. Poor control of diabetes with mean HbA1c of 8.1 ± 2.11 is found on analysis. Seasonal occurrence in GBS is prominent in winter 484 (41.50%) and mechanically ventilated were 449 (38.50%) patients. 48 (4.11%) deaths were attributed to GBS. Neurological analysis revealed cranial nerve involvement in 407 (34.90%) patients, facial palsy in 401 (34.39%) and ataxia in 88 (7.54%) patients. Most patients in plasma exchange group belonged to the lower socio-economic status. Mean cerebrospinal fluid (CSF) protein levels was (n=962) 113.8 ± 11.8 mg/dl. Conduction block determined indirectly by absent H-reflex was noted in 891 (90.64%) patients. No difference in complications and outcome is found in treatment regimens of intravenous immunoglobulin (IVIG) and plasma exchange.
CONCLUSION
Seasonal occurrence predominantly in winter is noted. Peak flow test may be a predictor of assessing requirement of mechanical ventilation and prognosis. Conduction block is the major abnormality noted in electrophysiological studies and proximal nerve segment assessing with Erb's point stimulation has high predictive value. IVIG treatment is more expensive but is associated with less duration of hospital stay.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Ataxia; Cerebrospinal Fluid Proteins; Child; Child, Preschool; Cranial Nerves; Diabetes Mellitus; Electromyography; Facial Paralysis; Female; Fever; Gastrointestinal Diseases; Guillain-Barre Syndrome; Humans; Immunoglobulins, Intravenous; India; Infant; Infant, Newborn; Male; Middle Aged; Neural Conduction; Plasma Exchange; Reflex, Abnormal; Respiration, Artificial; Respiratory Tract Infections; Retrospective Studies; Seasons; Young Adult
PubMed: 26421004
DOI: 10.3205/000220 -
Brain : a Journal of Neurology Jun 2022CANVAS caused by RFC1 biallelic expansions is a major cause of inherited sensory neuronopathy. Detection of RFC1 expansion is challenging and CANVAS can be associated...
CANVAS caused by RFC1 biallelic expansions is a major cause of inherited sensory neuronopathy. Detection of RFC1 expansion is challenging and CANVAS can be associated with atypical features. We clinically and genetically characterized 50 patients, selected based on the presence of sensory neuronopathy confirmed by EMG. We screened RFC1 expansion by PCR, repeat-primed PCR, and Southern blotting of long-range PCR products, a newly developed method. Neuropathological characterization was performed on the brain and spinal cord of one patient. Most patients (88%) carried a biallelic (AAGGG)n expansion in RFC1. In addition to the core CANVAS phenotype (sensory neuronopathy, cerebellar syndrome and vestibular impairment), we observed chronic cough (97%), oculomotor signs (85%), motor neuron involvement (55%), dysautonomia (50%), and parkinsonism (10%). Motor neuron involvement was found for 24 of 38 patients (63.1%). First motor neuron signs, such as brisk reflexes, extensor plantar responses, and/or spasticity, were present in 29% of patients, second motor neuron signs, such as fasciculations, wasting, weakness, or a neurogenic pattern on EMG in 18%, and both in 16%. Mixed motor and sensory neuronopathy was observed in 19% of patients. Among six non-RFC1 patients, one carried a heterozygous AAGGG expansion and a pathogenic variant in GRM1. Neuropathological examination of one RFC1 patient with an enriched phenotype, including parkinsonism, dysautonomia, and cognitive decline, showed posterior column and lumbar posterior root atrophy. Degeneration of the vestibulospinal and spinocerebellar tracts was mild. We observed marked astrocytic gliosis and axonal swelling of the synapse between first and second motor neurons in the anterior horn at the lumbar level. The cerebellum showed mild depletion of Purkinje cells, with empty baskets, torpedoes, and astrogliosis characterized by a disorganization of the Bergmann's radial glia. We found neuronal loss in the vagal nucleus. The pars compacta of the substantia nigra was depleted, with widespread Lewy bodies in the locus coeruleus, substantia nigra, hippocampus, entorhinal cortex, and amygdala. We propose new guidelines for the screening of RFC1 expansion, considering different expansion motifs. Here, we developed a new method to more easily detect pathogenic RFC1 expansions. We report frequent motor neuron involvement and different neuronopathy subtypes. Parkinsonism was more prevalent in this cohort than in the general population, 10% versus the expected 1% (P < 0.001). We describe, for the first time, the spinal cord pathology in CANVAS, showing the alteration of posterior columns and roots, astrocytic gliosis and axonal swelling, suggesting motor neuron synaptic dysfunction.
Topics: Cerebellar Ataxia; Gliosis; Humans; Motor Neurons; Primary Dysautonomias; Reflex, Abnormal
PubMed: 34927205
DOI: 10.1093/brain/awab449 -
JAMA May 2022Many patients with severe stroke have impaired airway protective reflexes, resulting in prolonged invasive mechanical ventilation. (Comparative Study)
Comparative Study Randomized Controlled Trial
Effect of Early vs Standard Approach to Tracheostomy on Functional Outcome at 6 Months Among Patients With Severe Stroke Receiving Mechanical Ventilation: The SETPOINT2 Randomized Clinical Trial.
IMPORTANCE
Many patients with severe stroke have impaired airway protective reflexes, resulting in prolonged invasive mechanical ventilation.
OBJECTIVE
To test whether early vs standard tracheostomy improved functional outcome among patients with stroke receiving mechanical ventilation.
DESIGN, SETTING, AND PARTICIPANTS
In this randomized clinical trial, 382 patients with severe acute ischemic or hemorrhagic stroke receiving invasive ventilation were randomly assigned (1:1) to early tracheostomy (≤5 days of intubation) or ongoing ventilator weaning with standard tracheostomy if needed from day 10. Patients were randomized between July 28, 2015, and January 24, 2020, at 26 US and German neurocritical care centers. The final date of follow-up was August 9, 2020.
INTERVENTIONS
Patients were assigned to an early tracheostomy strategy (n = 188) or to a standard tracheostomy (control group) strategy (n = 194).
MAIN OUTCOMES AND MEASURES
The primary outcome was functional outcome at 6 months, based on the modified Rankin Scale score (range, 0 [best] to 6 [worst]) dichotomized to a score of 0 (no disability) to 4 (moderately severe disability) vs 5 (severe disability) or 6 (death).
RESULTS
Among 382 patients randomized (median age, 59 years; 49.8% women), 366 (95.8%) completed the trial with available follow-up data on the primary outcome (177 patients [94.1%] in the early group; 189 patients [97.4%] in the standard group). A tracheostomy (predominantly percutaneously) was performed in 95.2% of the early tracheostomy group in a median of 4 days after intubation (IQR, 3-4 days) and in 67% of the control group in a median of 11 days after intubation (IQR, 10-12 days). The proportion without severe disability (modified Rankin Scale score, 0-4) at 6 months was not significantly different in the early tracheostomy vs the control group (43.5% vs 47.1%; difference, -3.6% [95% CI, -14.3% to 7.2%]; adjusted odds ratio, 0.93 [95% CI, 0.60-1.42]; P = .73). Of the serious adverse events, 5.0% (6 of 121 reported events) in the early tracheostomy group vs 3.4% (4 of 118 reported events) were related to tracheostomy.
CONCLUSIONS AND RELEVANCE
Among patients with severe stroke receiving mechanical ventilation, a strategy of early tracheostomy, compared with a standard approach to tracheostomy, did not significantly improve the rate of survival without severe disability at 6 months. However, the wide confidence intervals around the effect estimate may include a clinically important difference, so a clinically relevant benefit or harm from a strategy of early tracheostomy cannot be excluded.
TRIAL REGISTRATION
ClinicalTrials.gov Identifier: NCT02377167.
Topics: Airway Management; Female; Humans; Male; Middle Aged; Recovery of Function; Reflex, Abnormal; Respiration, Artificial; Respiratory Tract Diseases; Stroke; Time Factors; Tracheostomy; Treatment Outcome; Ventilator Weaning
PubMed: 35506515
DOI: 10.1001/jama.2022.4798 -
BMJ (Clinical Research Ed.) Oct 2020
Topics: Autonomic Dysreflexia; Autonomic Nervous System; Humans; Long-Term Care; Patient Care Management; Reflex, Abnormal; Self-Management; Spinal Cord Injuries; Thoracic Vertebrae
PubMed: 33008797
DOI: 10.1136/bmj.m3596 -
Clinical Neurophysiology : Official... Jan 2017Fisher syndrome (FS), a variant of Guillain-Barré syndrome (GBS), is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. The lesion sites for... (Review)
Review
Fisher syndrome (FS), a variant of Guillain-Barré syndrome (GBS), is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia. The lesion sites for these unique clinical features include the oculomotor nerves and group 1a neurons in the dorsal root ganglion, and the presence of FS is determined by the expression of ganglioside GQ1b in the human nervous system. Neurophysiological findings suggest that ataxia and areflexia are due to an impaired proprioceptive afferent system. Typically, the soleus H-reflex is absent and a body-sway analysis using posturography shows a 1-Hz peak, which indicates proprioception dysfunction. Sensory nerve action potentials and somatosensory-evoked potentials are abnormal in approximately 30% of FS patients, indicating the occasional involvement of cutaneous (group 2) afferents. During the disease course, approximately 15% of FS patients suffer an overlap of axonal GBS with nerve conduction abnormalities that reflect axonal dysfunction. This review summarizes electrophysiological abnormalities and their clinical significance in FS.
Topics: Ataxia; Electrophysiological Phenomena; Evoked Potentials, Somatosensory; H-Reflex; Humans; Miller Fisher Syndrome; Neural Conduction; Oculomotor Nerve; Proprioception; Reflex, Abnormal
PubMed: 27923188
DOI: 10.1016/j.clinph.2016.11.009 -
Journal of Neurology Dec 2014In the late 1800s, Wilhelm Erb, Joseph Babinski, William Gowers, and others helped develop the neurologic examination as we know it today. Erb was one of the first to... (Review)
Review
In the late 1800s, Wilhelm Erb, Joseph Babinski, William Gowers, and others helped develop the neurologic examination as we know it today. Erb was one of the first to emphasize a detailed and systematic neurologic exam and was co-discoverer of the muscle stretch reflex, Gowers began studying the knee jerk shortly after it was described, and Babinski focused on finding reliable signs that could differentiate organic from hysterical paralysis. These physicians and others emphasized the bedside examination of reflexes, which have been an important part of the neurologic examination ever since. This review will focus on the history of the examination of the following muscle stretch and superficial/cutaneous reflexes: knee jerk, jaw jerk, deep abdominal reflexes, superficial abdominal reflexes, plantar reflex/Babinski sign, and palmomental reflex. The history of reflex grading will also be discussed.
Topics: History, 19th Century; History, 20th Century; History, 21st Century; Humans; Neurologic Examination; Reflex; Reflex, Abdominal; Reflex, Abnormal; Reflex, Babinski; Reflex, Stretch
PubMed: 24695995
DOI: 10.1007/s00415-014-7326-7 -
European Journal of Paediatric... Mar 2018Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and... (Review)
Review
Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) are three distinct, yet partially overlapping clinical syndromes that have long been thought to be allelic disorders. From 2004 to 2012, both autosomal dominant and de novo mutations in ATP1A3 have been detected in patients affected by these three conditions. Growing evidence suggests that AHC, RDP and CAPOS syndrome are part of a large and continuously expanding clinical spectrum and share some recurrent clinical features, such as abrupt-onset, asymmetric anatomical distribution and the presence of triggering factors, which are highly suggestive of ATP1A3 mutations. In this review, we will highlight the main clinical and genetic features of ATP1A3-related disorders focussing on shared and distinct features that can be helpful in clinical practice to individuate mutation carriers.
Topics: Cerebellar Ataxia; Child, Preschool; Dystonic Disorders; Female; Foot Deformities, Congenital; Genetic Association Studies; Hearing Loss, Sensorineural; Hemiplegia; Humans; Mutation; Optic Atrophy; Reflex, Abnormal; Sodium-Potassium-Exchanging ATPase
PubMed: 29291920
DOI: 10.1016/j.ejpn.2017.12.009