American journal of neurodegenerative disease最新文献

Chordoma is a rare malignant tumour with an incidence of 0.1 case per 1 lakh population per year. The sacrococcygeal region is the most common site to be involved. Herein, we are reporting a case of sacral chordoma, who is a 32-year-old male patient, a known case of post-polio residual paralysis on the left lower limb, who presented with complaint of pain in the lower back and gluteal region for 2 years with swelling in the gluteal region for 1 year, which was gradually increasing in size for 1 year with associated weight loss. MRI revealed an ill-defined lytic expansile altered signal intensity lesion involving S3 to S5 and coccygeal vertebral bodies measuring 13.2 × 16.2 × 14 cm (ap × tr × cc) with adjacent large lobulated heterogeneous soft tissue component and showed multiple coarse calcifications. The lesion anteriorly displaced and abutted the rectum and was deriving its blood supply from branches of bilateral internal iliac arteries. The patient was planned and underwent wide-margin resection (middle sacrectomy with R0 margins with preservation of both S2 and right S3 nerve roots). Histologic Grade was reported to be G2, moderately differentiated, high grade. Pathologic stage classification was reported as pT3a. Postoperatively patient had the same neurological status and was discharged on advice to do full weight bearing walking and self-intermittent catheterisation and laxatives. He was on routine follow up and improved well symptomatically.

Introduction: Assessing vaccine willingness and understanding sources of vaccine hesitancy in individuals with multiple sclerosis (MS) helps healthcare providers approach patients more effectively while respecting their autonomy to encourage coronavirus disease 2019 (COVID-19) vaccination.

Materials and methods: A descriptive-analytical cross-sectional study using a researcher-made checklist was conducted on MS patients referred to Neshat Clinic of Hamadan during the years 2020-2021. The checklist contained questions about demographic information, MS phenotype, duration of illness, expanded disability status scale (EDSS) score, and COVID-19 vaccination status. The expanded disability status scale (EDSS) is the most commonly used instrument for measuring disability in patients with multiple sclerosis (MS). The EDSS scale ranges from 0 to 10 in increments of 0.5 units, denoting advanced points of disability.

Results: Based on the results, 20 individuals (10%) were in the vaccine non-acceptance group, while 181 individuals (90%) were in the vaccine acceptance group. A significant number of relapsing and remitting (RR) type MS patients (90.7%) and all primary progressive (PP) type MS patients (100%) accepted the vaccine. In comparison, vaccine non-acceptance in the secondary progressive (SP) group was relatively higher (20.7%) compared to other types of MS, and this difference was significant (P < 0.05). Additionally, there was a statistically significant relationship between the history of COVID-19 and vaccine acceptance (P < 0.05).

Conclusion: The study results demonstrated a high rate of COVID-19 vaccine acceptance among MS patients. MS phenotype, previous infection experiences, and other influences allow for COVID-19 vaccine acceptance among MS patients. This information can improve health programs and communication strategies for COVID-19 and future possible infectious disease vaccination in individuals with MS.

Introduction: Unstable thoracolumbar burst fractures are routinely encountered in orthopedic practice. Recently, short-segment fixation with pedicle screw augmentation of the fractured vertebra for unstable thoracolumbar burst fractures has gained popularity. Nonetheless, the maintenance of the kyphotic correction during the follow-up period remains controversial. This study aimed to examine the clinical-radiological outcomes, complications, and functional outcomes of fractured vertebrae augmentation with intermediate pedicle screws in short-segment instrumentation in acute thoracolumbar spine fractures.

Methods: This retrospective study was conducted in the Department of Orthopedics, All India Institute of Medical Sciences, Jodhpur, using medical records from January 2021 to October 2022. Parameters such as local kyphosis correction, loss of kyphotic correction at final follow-up, anterior body height correction (%), and loss of correction (%) at final follow-up were measured as primary outcomes. Various other parameters such as operative time, blood loss, length of hospital stay, and visual analog scale were measured as secondary outcomes.

Results: The mean correction obtained via surgery in the immediate postoperative period was 13.7±2.3 degrees. The mean loss of correction at the final follow-up was 4.1±2.0 degrees, and the mean final local kyphotic angle was 7.2±2.4 degrees (P<0.05). The mean correction obtained via surgery in the immediate postoperative period was 37.2%±9.0%. The mean loss of correction at the final follow-up was 10.5%±5.3%, and the mean final anterior vertebral body height maintained was 72%±11.0% (P<0.05).

Conclusion: Short-segment posterior fixation with pedicle screw augmentation achieves good correction of local kyphotic angle and anterior vertebral height in the immediate postoperative period, but some loss of correction at final follow-up is common. In our study, the loss of correction corresponded directly to the load-sharing score.

Alzheimer's disease (AD) is a devastative disease, the 1^st most frequent neurodegenerative disease worldwide. Its prevalence is increasing and early detection methods as well as potential genomic based therapeutics are urgently needed.

Objectives: To better characterize recent seq studies of AD and site recent relevant literature. Using single-cell RNA sequencing, the characteristics of neuronal cell populations in Alzheimer's disease (AD) have not been completely elucidated.

Methods: We conducted a dynamic and longitudinal bibliometric analysis to investigate existing studies on Single-cell RNA sequencing analysis and Alzheimer's Disease and identify data gaps and possible new research avenues.

Results: All AD papers concentrating on Single-cell RNA sequencing analysis were found using the search terms "Alzheimer's Disease", and "Single-cell RNA sequencing analysis" in the PubMed/MEDLINE database. Only English publications published between 2015 and 2023 were chosen using filters.

Conclusions: Original English-language research publications disclosing Single-cell RNA sequencing analysis and Alzheimer's Disease were examined for inclusion. Two sets of independent reviewers discovered and extracted pertinent data. The bibliometric study was carried out using the R software packages Bibliometrix and Biblioshiny. The narrowed search yielded 158 publications, all published between 2015 and 2023. Yet, after applying filters and considering the inclusion requirements, the search results comprise just 51 original articles out of 158 articles. There were 107 articles eliminated. The importance of the discovery of Single-cell RNA sequencing analysis and Alzheimer's Disease a decade ago only grows with time. Our results have important implications for future studies of AD and may help researchers across the world better understand the global context of the Single-cell RNA sequencing analysis and Alzheimer's Disease link. This study puts emphasis on the critical need for more diverse participant demographics in Alzheimer's disease investigations.

Parkinson's disease may be caused by a single highly deleterious and penetrant pathogenic variant in 5-10% of cases (monogenic). Research into these mutational disorders yields important pathophysiological insights. This article examines the phenotype, genotype, pathophysiology, and geographic and ethnic distribution of genetic forms of disease. Well established Parkinson's disease (PD) causal variants can follow an autosomal dominant (SNCA, LRRK2, and VPS35) and autosomal recessive pattern of inheritance (PRKN, PINK1, and DJ). Parkinson's disease is a worldwide condition, yet the AfrAbia population is understudied in this regard. No prevalence or incidence investigations have been conducted yet. Few studies on genetic risk factors for PD in AfrAbia communities have been reported which supported the notion that the prevalence and incidence rates of PD in AfrAbia are generally lower than those reported for European and North American populations. There have been only a handful of documented genetic studies of PD in AfrAbia and very limited cohort and case-control research studies on PD have been documented. In this article, we provide a summary of prior conducted research on monogenic PD in Africa and highlight data gaps and promising new research directions. We emphasize that monogenic Parkinson's disease is influenced by distinctions in ethnicity and geography, thereby reinforcing the need for global initiatives to aggregate large numbers of patients and identify novel candidate genes. The current article increases our knowledge of the genetics of Parkinson's disease (PD) and helps to further our knowledge on the genetic factors that contribute to PD, such as the lower penetrance and varying clinical expressivity of known genetic variants, particularly in AfrAbian PD patients.

Introduction: Lumbosacral transitional vertebra (LSTV) is the most common congenital anomaly of the lumbosacral junction and is a frequent cause of back pain in young patients with a prevalence of 4.6% to 36% in different regions.

Objective: The objective of this study was to evaluate spinopelvic parameters in patients with lumbosacral transitional vertebra and to compare them with the same parameters of low back ache patients without lumbosacral transitional vertebra.

Methods: This was a cross-sectional and comparative study conducted among low back ache patients presenting to our tertiary care center. Low back ache patients presenting to the outpatient department of AIIMS Jodhpur were screened for LSTV using radiographs. The spinopelvic parameters of those with LSTV were measured using Surgimap software and compared with the parameters of low back ache patients without LSTV. An Independent sample t-test was done and p-values were calculated.

Results: The spinopelvic parameters, pelvic incidence, pelvic tilt and lumbar lordosis differed significantly in the patients with LSTV. Pelvic incidence was higher in the group with LSTV (58.5+9.3) when compared to the group without LSTV (50+8.8) with a p-value (<0.001). Pelvic tilt was higher in the group with LSTV (19.4+8.8) when compared to the group without LSTV (13.6+7.8) with a p-value (0.001). Lumbar lordosis was significantly higher in the group with LSTV (57.6+13.2) when compared to the group without LSTV (50.7+12.2) with a p-value (0.007). No significant differences were obtained in sacral slope and Pelvic-incidence and lumbar lordosis mismatch.

Conclusion: LSTV alters the spinopelvic parameters. Altered spinopelvic parameters predispose to spondylolisthesis, degenerative disc disease, and facet joint arthritis and are important in preoperative planning in spine and pelvic surgeries.

Background: Numerous causes of low back pain have been identified like spondylosis, spondylolysis, spondylolisthesis, facet lesions, discal abnormalities, vertebral instability, degenerative osteoarthritis, etc., These causes of low back pain are seen commonly in >50 years of age. Lumbosacral transitional vertebra (LSTV) is a common congenital anomaly with multitude of intermediate morphologic manifestations between the typical sacral and lumbar vertebra reported by some authors as a cause of low back pain. There are racial differences reported in the literature on the prevalence of LSTV. There is no common consensus in literature about the association between LSTV and low back pain. There is a paucity of literature on the subject in the Indian population, hence the current study was conducted.

Material and methods: 60 cases of low back pain and 60 controls were included in the study. Patients between 18-50 years of age with low back pain of >12 weeks duration who were fulfilling the inclusion criteria were included in the study. The plain radiographs were screened by two observers (one Orthopaedician and one Radiologist) for the presence or absence of lumbosacral transitional vertebra (LSTV) and classification was determined by consensus. The incidence of LSTV was calculated in both the groups (cases and controls) and evaluated for statistical significance.

Results: Prevalence of lumbosacral transitional vertebra (LSTV) was found to be 38.33% in cases group as compared to control group (21.66%) and was statistically significant (p value <0.05). Prevalence of lumbarisation was higher in case group (10%) in comparison to control group (5.0%) but not found to be statistically significant. Prevalence of sacralisation was also found to be higher in case group (28.33%) as compared to control group (16.67%). This was not found to be statistically significant.

Conclusion: The present study showed a higher prevalence of lumbosacral transitional vertebra (LSTV) in case group (38.33%) as compared to control group (21.66%) which was found to be statistically significant. Prevalence of lumbarisation and sacralisation were both found to be higher in the case group in comparison to control group, but the difference was not statistically significant. However, further studies with larger sample would be needed to conclusively determine any association between low back pain and subtypes of LSTV.

Background: The occurrence of sialorrhea (drooling) in children with cerebral palsy is one of the important complications of this disease, which is associated with the impaired quality of life of patients and also the dissatisfaction of their parents. Botox injection in the salivary glands is one of the treatment methods that has recently received special attention in these patients, but there are still many challenges regarding its effectiveness and safety. We aimed to test the effectiveness and safety of botulinum toxin type A in reducing sialorrhea in children with cerebral palsy.

Methods: This semi-experimental before-after study was performed on 12 children who suffering from sialorrhea. The ethics code of this project is IR.MUI.MED.REC.1400.774 and the clinical trial registry code is IRCT20220516054868N1 (https://www.irct.ir/trial/64393). In each of the parotid and submandibular glands, an amount of 0.5 U/kg of botulinum toxin type A was injected by ultrasound guidance under general anesthesia. Before and 6 months after the intervention, the severity and frequency of drooling were tested by Drooling Frequency and Severity Scale.

Results: We found a decreasing trend in the severity and frequency scores for drooling within one month; however, after that time, until the end of the 24th week, we saw an increasing trend in the intensity and frequency of this complication. Only two-thirds of parents were satisfied with the therapeutic protocol. Side effects related to botox injection were revealed in 25.0% mostly as dysphagia.

Conclusion: Botox injection in salivary glands is not a definitive and stable treatment in the treatment of sialorrhea in children with cerebral palsy.

Amyotrophic lateral sclerosis (ALS), a representative example of motor neuron disease, is a progressive and fatal neurodegenerative disorder. The nucleus accumbens (NA) is the ventral striatum's main part and is considered as a modulator of the human brain's reward network. The purpose of this article is to review the current knowledge regarding NA changes in ALS patients. The NA involvement in ALS includes volumetric, cellular and molecular changes. There are recent imaging and pathological studies revealing NA atrophy in ALS, a finding which seems to be related to neuronal loss and protein deposition in this area. The clinical significance of NA atrophy in these patients is not currently fully understood. Perhaps it could be correlated with apathy, behavioral disturbances and cognitive impairment that ALS patients sometimes manifest.

Surgery of the knee, injury to the infrapatellar branch of the saphenous nerve, traumatic eczematous dermatitis (SKINTED) involving the skin lateral to the surgical incision/scar area is a site- and procedure-specific diagnosis associated with total knee replacement surgery. It results from autonomic denervation following surgical trauma to the nerve and occurs months to years after surgical trauma. It needs to be differentiated from post traumatic eczema/dermatitis, neuropathic dermatitis and contact dermatitis/sensitization due to topical therapies or implant material. Herein, we report a case of 70-year-old woman having no preexisting medical or dermatological disorder of significance presenting with eczematous lesions around both knees lateral to the incision site developing few months after bilateral total knee replacement surgery. Treatment with twice daily application of betamethasone dipropionate 0.05% cream, gabapentine 100 mg/d PO and liberal use of bland emollient cream given over 2 months was remittive without recurrence during more than one year of follow up. Since its exact prevalence, pathophysiology and clinical course remain uncertain its awareness remains relevant to both dermatologists and orthopedic surgeons to address unnecessary anxiety and dissatisfaction of the patient.