-
Aging and Disease Feb 2024Neuronal intranuclear inclusion disease (NIID) is a highly clinically heterogeneous neurodegenerative disorder primarily attributed to abnormal GGC repeat expansions in...
Neuronal intranuclear inclusion disease (NIID) is a highly clinically heterogeneous neurodegenerative disorder primarily attributed to abnormal GGC repeat expansions in the NOTCH2NLC gene. This study aims to comprehensively explore its phenotypic characteristics and genotype-phenotype correlation. A literature search was conducted in PubMed, Embase, and the Cochrane Library from September 1, 2019, to December 31, 2022, encompassing reported NIID cases confirmed by pathogenic NOTCH2NLC mutations. Linear regressions and trend analyses were performed. Analyzing 635 cases from 85 included studies revealed that familial cases exhibited significantly larger GGC repeat expansions than sporadic cases (p < 0.001), and this frequency significantly increased with expanding GGC repeats (p trend < 0.001). Age at onset (AAO) showed a negative correlation with GGC repeat expansions (p < 0.001). The predominant initial symptoms included tremor (31.70%), cognitive impairment (14.12%), and muscle weakness (10.66%). The decreased or absent tendon reflex (DTR/ATR) emerged as a notable clinical indicator of NIID due to its high prevalence. U-fiber was observed in 79.11% of patients, particularly prominent in paroxysmal disease-dominant (87.50%) and dementia-dominant cases (81.08%). Peripheral neuropathy-dominant cases exhibited larger GGC repeat expansions (median = 123.00) and an earlier AAO (median = 33.00) than other phenotypes. Moreover, a significant genetic anticipation of 3.5 years was observed (p = 0.039). This study provides a comprehensive and up-to-date compilation of genotypic and phenotypic information on NIID since the identification of the causative gene NOTCH2NLC. We contribute a novel diagnostic framework for NIID to support clinical practice.
PubMed: 38377026
DOI: 10.14336/AD.2024.0131-1 -
World Neurosurgery Mar 2024Spasticity is a form of muscle hypertonia secondary to various diseases, including traumatic brain injury, spinal cord injury, cerebral palsy, and multiple sclerosis.... (Review)
Review
OBJECTIVE
Spasticity is a form of muscle hypertonia secondary to various diseases, including traumatic brain injury, spinal cord injury, cerebral palsy, and multiple sclerosis. Medical treatments are available; however, these often result in insufficient clinical response. This review evaluates the role of epidural spinal cord stimulation (SCS) in the treatment of spasticity and associated functional outcomes.
METHODS
A systematic review of the literature was performed using the Embase, CENTRAL, and MEDLINE databases. We included studies that used epidural SCS to treat spasticity. Studies investigating functional electric stimulation, transcutaneous SCS, and animal models of spasticity were excluded. We also excluded studies that used SCS to treat other symptoms such as pain.
RESULTS
Thirty-four studies were included in the final analysis. The pooled rate of subjective improvement in spasticity was 78% (95% confidence interval, 64%-91%; I = 77%), 40% (95% confidence interval, 7%-73%; I = 88%) for increased H-reflex threshold or decreased Hoffman reflex/muscle response wave ratio, and 73% (65%-80%; I = 50%) for improved ambulation. Patients with spinal causes had better outcomes compared with patients with cerebral causes. Up to 10% of patients experienced complications including infections and hardware malfunction.
CONCLUSIONS
Our review of the literature suggests that SCS may be a safe and useful tool for the management of spasticity; however, there is significant heterogeneity among studies. The quality of studies is also low. Further studies are needed to fully evaluate the usefulness of this technology, including various stimulation paradigms across different causes of spasticity.
Topics: Animals; Humans; Spinal Cord Stimulation; Spinal Cord Injuries; Pain; Muscle Spasticity; Walking; Reflex, Abnormal; Spinal Cord
PubMed: 38181878
DOI: 10.1016/j.wneu.2023.12.158 -
Epilepsy & Behavior : E&B Aug 2023Reading-induced seizures are presumed to be rare phenomena attributed to an epilepsy syndrome not clearly belonging to either focal or generalized epilepsies. The aim of... (Meta-Analysis)
Meta-Analysis
BACKGROUND AND AIM
Reading-induced seizures are presumed to be rare phenomena attributed to an epilepsy syndrome not clearly belonging to either focal or generalized epilepsies. The aim of the article was to summarize knowledge and recent developments in the field of reading-induced seizures by reviewing all cases for which data were reported within the last three decades.
METHODS
A scoping systematic review of demographic, clinical, electroencephalography (EEG) and imaging data of cases with reading-induced seizures reported in PubMed and Web of Science between 1991-01-01 and 2022-08-21 and a meta-analysis of the findings.
RESULTS
The review included 101 case reports of epilepsy with reading-induced seizures (EwRIS) from 42 articles. The phenomenon was more prevalent among males (67, 66.3% vs. 34, 33.7%) with an average age of onset of 18.3 ± 7.9 years. When reported, 30.8% of patients had a family history of epilepsy. Orofacial reflex myocloni (ORM) were the most frequent manifestation (68, 67.3% cases), other presentations, mostly in addition to ORM, included visual, sensory or cognitive symptoms, non-orofacial myoclonic seizures, and absence seizures. Within the sample, 75 (74.3%) patients were identified as having primary reading epilepsy (PRE), 13 (12.9%) idiopathic generalised epilepsy (IGE) and 13 (12.9%) focal epilepsies. Advanced EEG and functional imaging data suggest that the basic mechanism of reading-induced seizures is probably similar despite different symptoms and consists of upregulation of the complex cerebral subsystem involved in reading. Ictogenesis and resulting symptomatology may then depend on predominant sensory or proprioceptive stimuli during reading.
CONCLUSION
In most cases, reading-induced seizures were confirmed to belong to a particular epilepsy syndrome of PRE. However, there were substantial subgroups with IGE and focal epilepsies. Most likely, reading-induced seizures occur as an abnormal response to extero- or proprioceptive input into an upregulated cortical network subserving reading. Most recent researchers consider EwRIS a system epilepsy.
Topics: Adolescent; Adult; Child; Humans; Male; Young Adult; Electroencephalography; Epilepsies, Partial; Epilepsy, Absence; Epilepsy, Generalized; Epilepsy, Reflex; Immunoglobulin E; Myoclonus; Seizures
PubMed: 37437391
DOI: 10.1016/j.yebeh.2023.109346 -
Neurological Sciences : Official... Jun 2023To provide new and comprehensive evidence for diagnosis and management of FOSMN syndrome. (Review)
Review
OBJECTIVE
To provide new and comprehensive evidence for diagnosis and management of FOSMN syndrome.
METHODS
We reviewed our database to identify patients with FOSMN syndrome. Online database including PubMed, EMBASE, and OVID were also searched for relevant cases.
RESULTS
We identified a total of 71 cases, including 4 cases from our database and 67 ones from online searching. A predominance of male was observed [44 (62.0%)] with median onset age of 53 (range: 7-75) years old. The median (range) disease duration was 60 (3-552) months at the time of the visit. The initial symptoms could be sensory deficits in face (80.3%) or oral cavity (4.2%), bulbar paralysis (7.0%), dysosmia (1.4%), dysgeusia (4.2%), weakness or numbness of upper limbs (5.6%), or lower limbs (1.4%). Abnormal blink reflex was presented in 64 (90.1%) patients. CSF tests showed elevated protein level in 5 (7.0%) patients. Six (8.5%) patients had MND-related gene mutation. Five (7.0%) patients showed transient responsiveness to immunosuppressive therapy, then deteriorated relentlessly. Fourteen (19.7%) patients died, with an average survival time of around 4 years. Among them, five patients died of respiratory insufficiency.
CONCLUSION
The age of onset, progress of disease course, and prognosis of FOSMN syndrome could be varied significantly. The prerequisites of diagnosis were progressive and asymmetric lower motor neuron dysfunction, with sensory dysfunction which usually showed in face at the onset. Immunosuppressive therapy could be tried in some patients with suspected inflammatory clues. In general, FOSMN syndrome tended to be motor neuron disease with sensory involvement.
Topics: Adolescent; Adult; Aged; Child; Female; Humans; Male; Middle Aged; Young Adult; Blinking; Bulbar Palsy, Progressive; Motor Neuron Disease; Mutation; Neurodegenerative Diseases
PubMed: 36864244
DOI: 10.1007/s10072-023-06703-1 -
Inflammatory Bowel Diseases Nov 2023Total proctocolectomy with ileal pouch anal anastomosis (IPAA) for medically refractory ulcerative colitis or dysplasia may be associated with structural and...
BACKGROUND
Total proctocolectomy with ileal pouch anal anastomosis (IPAA) for medically refractory ulcerative colitis or dysplasia may be associated with structural and inflammatory complications. However, even in their absence, defecatory symptoms secondary to dyssynergic defecation or fecal incontinence may occur. Although anorectal manometry is well established as the diagnostic test of choice for defecatory symptoms, its utility in the assessment of patients with IPAA is less established. In this systematic review, we critically evaluate the existing evidence for anopouch manometry (APM).
METHODS
A total of 393 studies were identified, of which 6 studies met all inclusion criteria. Studies were not pooled given different modalities of testing with varying outcome measures.
RESULTS
Overall, less than 10% of symptomatic patients post-IPAA were referred to APM. The prevalence of dyssynergic defecation as defined by the Rome IV criteria in symptomatic patients with IPAA ranged from 47.0% to 100%. Fecal incontinence in patients with IPAA was characterized by decreased mean and maximal resting anal pressure on APM, as well as pouch hyposensitivity. The recto-anal inhibitory reflex was absent in most patients with and without incontinence.
CONCLUSION
Manometry alone is an imperfect assessment of pouch function in patients with defecatory symptoms, and confirmatory testing may need to be performed with dynamic imaging.
Topics: Humans; Fecal Incontinence; Proctocolectomy, Restorative; Anastomosis, Surgical; Rectum; Colitis, Ulcerative; Anal Canal; Colonic Pouches
PubMed: 36351035
DOI: 10.1093/ibd/izac234 -
Otology & Neurotology : Official... Aug 2022Psoriatic skin lesions are often seen in the auricle and external auditory canal, but middle ear and inner ear manifestations are not easily identified. Several studies... (Meta-Analysis)
Meta-Analysis
INTRODUCTION
Psoriatic skin lesions are often seen in the auricle and external auditory canal, but middle ear and inner ear manifestations are not easily identified. Several studies have indicated hearing loss and vestibular dysfunction with psoriasis, but the extent of association has not been well defined.
METHODS
A systematic search of PubMed, CINAHL, Scopus, and Cochrane Library was conducted following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Included studies described audiometric or vestibular assessment of psoriasis patients. Meta-analysis was represented with odds ratios (ORs) or mean difference (MD) with 95% confidence intervals.
RESULTS
A total of 13 studies with 589 psoriasis patients and 617 healthy controls were included. Age did not significantly differ between psoriasis patients (47.1 [12.4] yr) and healthy controls (45.4 [11.2] yr). Psoriasis area and severity index score was 9.9 (8.4), and body surface area scores was 7.9 (14.7). Pure-tone audiometry analysis showed higher mean hearing thresholds in psoriasis patients compared with healthy controls across all frequencies, with the greatest difference at 4000 Hz (MD, 7.70 [4.46-10.94]; p < 0.00001). Speech reception thresholds were worse with psoriasis (MD, 3.53 [1.56-5.49]; p < 0.0001). Abnormal stapedial reflex was more common in psoriasis (OR, 5.19 [1.68-15.99]; p = 0.004). Abnormal vestibular testing was more common in psoriasis for caloric testing (OR, 13.12 [2.88-59.84]; p < 0.0001). Two additional studies of 41,681 psoriasis patients and 80,273 healthy controls found that psoriasis patients were at higher risk for sudden sensorineural hearing loss (OR, 1.50 [1.25-1.80]; p < 0.0001).
CONCLUSION
Our study shows that psoriasis is associated with hearing loss and vestibular dysfunction, but clinical significance remains undefined. The trends noted in our study require more investigation, and the pathophysiologic mechanisms need to be defined.
Topics: Audiometry, Pure-Tone; Hearing; Hearing Loss; Hearing Loss, Sensorineural; Humans; Psoriasis
PubMed: 35878629
DOI: 10.1097/MAO.0000000000003597 -
The Canadian Journal of Neurological... Sep 2023Long latency reflexes (LLRs) are impaired in a wide array of clinical conditions. We aimed to illustrate the clinical applications and recent advances of LLR in various...
BACKGROUND
Long latency reflexes (LLRs) are impaired in a wide array of clinical conditions. We aimed to illustrate the clinical applications and recent advances of LLR in various neurological disorders from a systematic review of published literature.
METHODS
We reviewed the literature using appropriately chosen MeSH terms on the database platforms of MEDLINE, Web of Sciences, and Google Scholar for all the articles from 1st January 1975 to 2nd February 2021 using the search terms "long loop reflex", "long latency reflex" and "C-reflex". The included articles were analyzed and reported using synthesis without meta-analysis (SWiM) guidelines.
RESULTS
Based on our selection criteria, 40 articles were selected for the systematic review. The various diseases included parkinsonian syndromes (11 studies, 217 patients), Huntington's disease (10 studies, 209 patients), myoclonus of varied etiologies (13 studies, 127 patients) including progressive myoclonic epilepsy (5 studies, 63 patients) and multiple sclerosis (6 studies, 200 patients). Patients with parkinsonian syndromes showed large amplitude LLR II response. Enlarged LLR II was also found in myoclonus of various etiologies. LLR II response was delayed or absent in Huntington's disease. Delayed LLR II response was present in multiple sclerosis. Among the other diseases, LLR response varied according to the location of cerebellar lesions while the results were equivocal in patients with essential tremor.
CONCLUSIONS
Abnormal LLR is observed in many neurological disorders. However, larger systematic studies are required in many neurological disorders in order to establish its role in diagnosis and management.
Topics: Humans; Myoclonus; Huntington Disease; Reflex; Multiple Sclerosis; Neurology; Reaction Time; Electromyography
PubMed: 35801267
DOI: 10.1017/cjn.2022.270 -
The Journal of Urology Jul 2022The Testicular Workup for Ischemia and Suspected Torsion (TWIST) score is a 7-point tool to evaluate acute scrotal pain. Parameters include testicular swelling (2... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
The Testicular Workup for Ischemia and Suspected Torsion (TWIST) score is a 7-point tool to evaluate acute scrotal pain. Parameters include testicular swelling (2 points), hard testis (2), high-riding testis (1), absent cremasteric reflex (1) and nausea/vomiting (1). This review aimed to determine the diagnostic utility of TWIST and its role in risk stratification.
MATERIALS AND METHODS
A systematic review and meta-analysis of diagnostic test accuracy was conducted. Five risk stratification systems were explored, including the Barbosa (0-2, 3-4, 5-7) and Sheth (0, 1-5, 6-7) scoring systems, to obtain sensitivity, specificity and area under the receiver operating curve.
RESULTS
Thirteen studies were identified, 9 prospective studies proceeded to meta-analysis of diagnostic test accuracy and 5 pediatric studies (1,060 patients, 199 torsions) were included in the primary analysis. The most accurate risk stratification system was Barbosa (0-2, 3-4, 5-7), with an AUC of 0.924 (95% CI: 0.865, 0.956). Barbosa showed favorable sensitivity in low-risk patients (0.984), facilitating rule out of torsion, and favorable specificity (0.975) in high-risk patients, facilitating urgent surgical exploration. Sensitivity and specificity in intermediate-risk patients were 0.922 and 0.682, respectively, indicating a need for further workup with ultrasound. Using this stratification, 65.2% of patients were low-risk, 19.9% were intermediate-risk and 14.9% were high-risk. Per 100 presentations of acute scrotum, there was a missed torsion rate of 1.6/100, ultrasound rate of 19.9/100 and negative exploration rate of 2.5/100.
CONCLUSIONS
TWIST is an effective tool for suspected testicular torsion and is appropriate for widespread adoption. The Barbosa scoring system is reliable and reduces reliance on scrotal ultrasound.
Topics: Child; Humans; Male; Prospective Studies; Risk Factors; Scrotum; Spermatic Cord Torsion; Testis
PubMed: 35238603
DOI: 10.1097/JU.0000000000002496 -
Reviews in the Neurosciences Jun 2022Growing evidence demonstrates the association of encephalitis, meningoencephalitis or encephalomyelitis, with SARS-CoV-2 infection. This study aims to determine the...
Growing evidence demonstrates the association of encephalitis, meningoencephalitis or encephalomyelitis, with SARS-CoV-2 infection. This study aims to determine the profile and possible mechanisms behind CNS inflammatory diseases in the context of Covid-19. We conducted a systematic review of case reports on Covid-19-related encephalitis, meningoencephalitis, acute necrotizing encephalitis, and acute disseminated encephalomyelitis in adults, published before January 2021. A total of 182 cases (encephalitis = 109, meningoencephalitis = 26, acute disseminated encephalomyelitis = 35, acute necrotizing (hemorrhagic) encephalitis = 12) were included. While cerebrospinal fluid (CSF) pleocytosis and increased protein level was present in less than 50%, magnetic resonance imaging (MRI) and electroencephalogram (EEG) were abnormal in 78 and 93.2% of all cases, respectively. Viral particles were detected in cerebrospinal fluid of only 13 patients and autoantibodies were present in seven patients. All patients presented with altered mental status, either in the form of impaired consciousness or psychological/cognitive decline. Seizure, cranial nerve signs, motor, and reflex abnormalities were among associated symptoms. Covid-19-associated encephalitis presents with a distinctive profile requiring thorough diagnosis and thereby a comprehensive knowledge of the disease. The clinical profile of brain inflammation in Covid-19 exhibits majority of abnormal imaging and electroencephalography findings with mild/moderate pleocytosis or proteinorrhachia as prevalent as normal cerebrospinal fluid (CSF). Oligoclonal bands and autoantibody assessments are useful in further evaluating neuro-covid patients, as supported by our pooled evidence. Despite the possibility that direct viral invasion cannot be easily estimated, it is still more likely that immune-mediated or autoimmune reactions play a more important role in SARS-CoV-2 neuroinflammation.
Topics: Adult; Brain Diseases; COVID-19; Encephalitis; Encephalomyelitis, Acute Disseminated; Humans; Leukocytosis; Meningoencephalitis; Neuroinflammatory Diseases; SARS-CoV-2
PubMed: 34536341
DOI: 10.1515/revneuro-2021-0082 -
Critical Care Medicine Oct 2021An automated infrared pupillometer measures quantitative pupillary light reflex using a calibrated light stimulus. We examined whether the timing of performing... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
An automated infrared pupillometer measures quantitative pupillary light reflex using a calibrated light stimulus. We examined whether the timing of performing quantitative pupillary light reflex or standard pupillary light reflex may impact its neuroprognostic performance in postcardiac arrest comatose patients and whether quantitative pupillary light reflex may outperform standard pupillary light reflex in early postresuscitation phase.
DATA SOURCES
PubMed and Embase databases from their inception to July 2020.
STUDY SELECTION
We selected studies providing sufficient data of prognostic values of standard pupillary light reflex or quantitative pupillary light reflex to predict neurologic outcomes in adult postcardiac arrest comatose patients.
DATA EXTRACTION
Quantitative data required for building a 2 × 2 contingency table were extracted, and study quality was assessed using standard criteria.
DATA SYNTHESIS
We used the bivariate random-effects model to estimate the pooled sensitivity and specificity of standard pupillary light reflex or quantitative pupillary light reflex in predicting poor neurologic outcome during early (< 72 hr), middle (between 72 and 144 hr), and late (≧ 145 hr) postresuscitation periods, respectively. We included 39 studies involving 17,179 patients. For quantitative pupillary light reflex, the cut off points used in included studies to define absent pupillary light reflex ranged from 0% to 13% (median: 7%) and from zero to 2 (median: 2) for pupillary light reflex amplitude and Neurologic Pupil index, respectively. Late standard pupillary light reflex had the highest area under the receiver operating characteristic curve (0.98, 95% CI [CI], 0.97-0.99). For early standard pupillary light reflex, the area under the receiver operating characteristic curve was 0.80 (95% CI, 0.76-0.83), with a specificity of 0.91 (95% CI, 0.85-0.95). For early quantitative pupillary light reflex, the area under the receiver operating characteristic curve was 0.83 (95% CI, 0.79-0.86), with a specificity of 0.99 (95% CI, 0.91-1.00).
CONCLUSIONS
Timing of pupillary light reflex examination may impact neuroprognostic accuracy. The highest prognostic performance was achieved with late standard pupillary light reflex. Early quantitative pupillary light reflex had a similar specificity to late standard pupillary light reflex and had better specificity than early standard pupillary light reflex. For postresuscitation comatose patients, early quantitative pupillary light reflex may substitute for early standard pupillary light reflex in the neurologic prognostication algorithm.
Topics: Adult; Heart Arrest; Humans; Prognosis; Reflex, Pupillary; Sensitivity and Specificity; Time
PubMed: 34259437
DOI: 10.1097/CCM.0000000000005045