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Biomedical Reports Nov 2023Cervical myelopathy is a well-described medulla spinalis syndrome characterized by sensory disorders, such as pain, numbness, or paresthesia in the limbs, and motor... (Review)
Review
Cervical myelopathy is a well-described medulla spinalis syndrome characterized by sensory disorders, such as pain, numbness, or paresthesia in the limbs, and motor disorders, such as muscle weakness, gait difficulties, spasticity, or hyperreflexia. If left untreated, cervical myelopathy can significantly affect the quality of life of patients, while in severe cases, it can cause disability or even quadriplegia. Cervical myelopathy is the final stage of spinal cord insult and can result from transgene dysplasias of the spinal cord, and acute or chronic injuries. Spondylosis is a common, multifactor cause of cervical myelopathy and affects various elements of the spine. The development of spondylotic changes in the spine is gradual during the patient's life and the symptoms are presented at a late stage, when significant damage has already been inflicted on the spinal cord. Spondylosis is widely considered a condition affecting the middle aged and elderly. Given the fact that the population is gradually becoming older, in the near future, clinicians may have to face an increased number of patients with spondylotic myelopathy.
PubMed: 37881604
DOI: 10.3892/br.2023.1666 -
Cureus Aug 2023Acute intermittent porphyria (AIP) is an uncommon metabolic disease that impacts multiple organs and can manifest in many ways. It is often misdiagnosed due to its... (Review)
Review
Acute intermittent porphyria (AIP) is an uncommon metabolic disease that impacts multiple organs and can manifest in many ways. It is often misdiagnosed due to its nonspecific symptoms. Neurovisceral signs and symptoms should alert physicians to consider AIP in the differential after excluding more common causes. Identifying the underlying cause is critical in preventing acute attacks, and trigger avoidance is the optimal approach to managing AIP. Medications that are contraindicated should be reviewed thoroughly. Prompt intravenous hematin administration is the primary treatment for acute attacks, and additional pharmacological therapies may be necessary to treat concurrent symptoms. A severe neurological manifestation of AIP is flaccid paralysis or severe motor weakness, which can develop into total quadriplegia and respiratory insufficiency. A comprehensive rehabilitation program is an integral aspect of the treatment plan. Since the incidence of this disease is low, functional prognosis is not well-known. As a result, it is challenging to determine the most appropriate structure, intensity, and duration of rehabilitation therapy. By extending the treatment plan, individuals with tetraplegia due to AIP can continue to make functional gains years after the onset of weakness. Understanding the disease's functional prognosis will aid in coordinating resources and improving healthcare expenditures.
PubMed: 37772218
DOI: 10.7759/cureus.44260 -
Frontiers in Pediatrics 2023To study the worldwide prevalence and associated factors of epilepsy in children and adolescents with Cerebral Palsy (CP) and to analyze the differences between various... (Review)
Review
OBJECTIVE
To study the worldwide prevalence and associated factors of epilepsy in children and adolescents with Cerebral Palsy (CP) and to analyze the differences between various subgroups.
METHOD
We identified all potential studies on the prevalence of epilepsy in children and adolescents with CP from PubMed, Web of Science, and Embase. The search time was from the establishment of the database to November 2022. Randomized effects meta-analysis models were used to calculate the prevalence of epilepsy in CP. Subgroup analysis and meta-regression were utilized to further explore heterogeneity between articles and prevalence disparities between subgroups. The funnel plot and Egger's test were used to investigate potential publication bias.
RESULTS
Seventy-two articles, comprising 53,969 children and adolescents with CP, were included in this study. The results indicated a total epilepsy prevalence of 38.0% (95% CI: 34.8%-41.2%) in CP. The prevalence of epilepsy was 46.4% (95% CI: 41.4%-51.5%) in clinical sample-based studies and 31.6% (95% CI: 28.7%-34.5%) in population-based studies. Meta-regression demonstrated that the sample source, neonatal seizure, family history of epilepsy, EEG or cranial imaging abnormalities, intellectual/cognitive impairment, and topographical types of CP were heterogeneous contributors to the epilepsy prevalence in CP.
CONCLUSION
Approximately one-third of children and adolescents with CP have epilepsy, and the sample source can significantly impact the total prevalence of epilepsy. Neonatal seizures, family history of epilepsy, EEG abnormalities, cranial imaging abnormalities, severe intellectual disability, and quadriplegia may be contributing factors to epilepsy comorbid in CP. Further study is required to verify the strength of these associations with epilepsy. This study aids in identifying the clinical characteristics of young people with CP at risk of developing epilepsy, which may assist clinicians in the early prevention and diagnosis of epilepsy within this population. https://www.crd.york.ac.uk/PROSPERO/display_record.php?RecordID=367766, identifier CRD42022367766.
PubMed: 37576141
DOI: 10.3389/fped.2023.1189648 -
Journal of Neurointerventional Surgery Aug 2023Locked-in syndrome (LiS) is a rare and devastating condition in patients with acute basilar artery occlusion. However, the benefits of endovascular treatment (EVT) for...
BACKGROUND
Locked-in syndrome (LiS) is a rare and devastating condition in patients with acute basilar artery occlusion. However, the benefits of endovascular treatment (EVT) for LiS remain unclear.
OBJECTIVE
To assess the outcomes associated with EVT and identify the factors associated with outcomes of LiS.
METHODS
We used the data of the Endovascular Treatment for Acute Basilar Artery Occlusion Study Registry (BASILAR) from 47 tertiary stroke centers in China. The included patients had LiS and received EVT or standard medical treatment (SMT) alone. The primary outcome was improvement in the modified Rankin Scale (mRS) score at 90 days.
RESULTS
Among the 120 patients with LiS, 92 (76.7%) received EVT and 28 (23.3%) received SMT. Compared with SMT, EVT was associated with improved mRS score (common OR (cOR)=2.68 (95% CI 1.16 to 6.20); p=0.02) and decreased mortality (aOR=0.35 (95% CI 0.13 to 0.90); p=0.03). Moreover, the benefit of EVT for LiS was sustained for at least 1 year (p=0.008). Higher baseline posterior circulation Alberta Stroke Prognosis Early CT Score (pc-ASPECTS, aOR=2.04 (95% CI 1.34 to 3.10); p<0.001) and absence of pneumonia (aOR=0.26 (95% CI 0.08 to 0.90); p=0.03) were significantly associated with favorable functional outcome at 90 days in patients who received EVT, while lower pc-ASPECTS (aOR=0.52 (95% CI 0.36 to 0.76); p<0.001) was associated with increased 90-day mortality.
CONCLUSIONS
This study found that EVT was associated with favorable functional outcomes and decreased mortality among patients with LiS. Baseline pc-ASPECTS and pneumonia were independent predictors of outcomes.
Topics: Humans; Thrombectomy; Locked-In Syndrome; Treatment Outcome; Stroke; Basilar Artery; Arterial Occlusive Diseases; Endovascular Procedures
PubMed: 35985839
DOI: 10.1136/jnis-2022-019112 -
Molecular Genetics & Genomic Medicine Dec 2023Very long-chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs are...
BACKGROUND
Very long-chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs are elongated beyond 28 carbon atoms by ELOVL4 enzyme. Variants in ELOVL4 are associated with three Mendelian disorders: autosomal dominant (AD) Stargardt-like macular dystrophy type 3, AD spinocerebellar ataxia, and autosomal recessive disorder congenital ichthyosis, spastic quadriplegia and impaired intellectual development (ISQMR). Only seven subjects from five unrelated families with ISQMR have been described, all of which have biallelic single-nucleotide variants.
METHODS
We performed clinical exome sequencing on probands from four unrelated families with neuro-ichthyosis.
RESULTS
We identified three novel homozygous ELOVL4 variants. Two of the families originated from the same Saudi tribe and had the exact homozygous exonic deletion in ELOVL4, while the third and fourth probands had two different novel homozygous missense variants. Seven out of the eight affected subjects had profound developmental delay, epilepsy, axial hypotonia, peripheral hypertonia, and ichthyosis. Delayed myelination and corpus callosum hypoplasia were seen in two of five subjects with brain magnetic rosonance imaging and cerebral atrophy in three.
CONCLUSION
Our study expands the allelic spectrum of ELOVL4-related ISQMR. The detection of the same exonic deletion in two unrelated Saudi family from same tribe suggests a tribal founder mutation.
Topics: Humans; Mutation; Macular Degeneration; Retina; Ichthyosis; Ichthyosis, Lamellar; Carbon; Eye Proteins; Membrane Proteins
PubMed: 37592902
DOI: 10.1002/mgg3.2256 -
Biomedicines Mar 2024Neuromodulation is an alternative, minimally invasive treatment option that, at times, is used as a last resort for chronic pain conditions that are often refractory to... (Review)
Review
Neuromodulation is an alternative, minimally invasive treatment option that, at times, is used as a last resort for chronic pain conditions that are often refractory to other treatment modalities. Moreover, it offers promising prospects for individuals grappling with the formidable challenges posed by paraplegia and quadriplegia resulting from spinal cord injuries. This review article provides a comprehensive assessment of current treatment modalities specifically tailored for paraplegic and quadriplegic patients. We aim to evaluate the existing surgical and non-surgical interventions while delving into the role of neuromodulation in the restoration of function for individuals afflicted with these debilitating conditions. Additionally, we review the efficacy, limitations, and comparative outcomes of diverse treatment strategies available for the management of paraplegia and quadriplegia. Emphasizing the critical need for effective interventions beyond the initial 24 h surgical window, we elucidate the challenges associated with conventional therapies and their limited success in achieving comprehensive functional restoration. Central to this review is an in-depth exploration of neuromodulation's transformative potential in ameliorating the deficits caused by spinal cord injuries. With a particular focus on spinal cord stimulation (SCS), we analyze and compare the outcomes of neuromodulation modalities and traditional treatment regimens, shedding light on the promising strides made in fostering sensory perception, motor function, and patient satisfaction.
PubMed: 38672076
DOI: 10.3390/biomedicines12040720