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Cureus May 2024Spondylolysis with pseudarthrosis may be treated surgically by repairing the spondylolysis using the smiley face rod (SFR) technique. The SFR technique can avoid...
Spondylolysis with pseudarthrosis may be treated surgically by repairing the spondylolysis using the smiley face rod (SFR) technique. The SFR technique can avoid adjacent segmental disease caused by transforaminal lumbar interbody fusion (TLIF), which is one of the main surgical techniques to treat isthmic lumbar spondylolisthesis. A 59-year-old woman had been playing softball since she was 12 years old and was a member of a prefectural representative team. She sought treatment because of numbness in her left lower limb and difficulty playing softball. Despite conservative treatment for a year, her symptoms did not improve. Physical examination revealed decreased patellar tendon reflexes and numbness and pain from the front of the thigh to the lower leg without muscle weakness. Imaging showed L4 isthmic spondylolisthesis with Meyerding classification grade 2 anterior slip and L5 spondylolysis with pseudarthrosis. We diagnosed L4 radiculopathy caused by L4/5 foraminal stenosis and L4 isthmic spondylolisthesis with L5 spondylolysis. She underwent surgery combining the TLIF of L4/5 and the SFR technique of L5 using dual-headed pedicle screws that can fix two types of rods with L5 pedicle screws. Three months after surgery, fusion between L4/5 and fusion of the L5 pars cleft were confirmed. She resumed sports, and one year postoperatively, she was able to participate in softball games. Two years postoperatively, she could bat, run, and play defense without adjacent segmental disease. Two-segment TLIF increases adjacent segmental disease more than single-segment TLIF. Because the L5 spondylolysis had not slipped, we chose the SFR technique to preserve mobility at L5/S1. The dual-headed pedicle screw fastens two-type rods at the head of the pedicle screw, making it a suitable design for this procedure.
PubMed: 38903306
DOI: 10.7759/cureus.60756 -
Sexually Transmitted Infections Jun 2024This study aimed to describe the clinical features of neurosyphilis in Chinese patients in an attempt to find clinical features that are helpful for the early...
OBJECTIVES
This study aimed to describe the clinical features of neurosyphilis in Chinese patients in an attempt to find clinical features that are helpful for the early identification of neurosyphilis.
METHODS
This retrospective study included people with syphilis who visited Shanghai Skin Disease Hospital between January 2010 and December 2020. Lumbar puncture was performed on those who met the inclusion and exclusion criteria. The diagnosis of neurosyphilis was based on clinical and laboratory findings. The parameters were analysed statistically.
RESULTS
Of the 3524 patients with neurosyphilis, 2111 (59.9%) and 1413 (40.1%) were asymptomatic and symptomatic neurosyphilis, respectively. General paresis was the most common type of symptomatic neurosyphilis (46.8%). The clinical manifestations of symptomatic neurosyphilis include psychiatric and neurotic symptoms, among which general paresis predominantly presented as psychiatric symptoms such as affective (66.7%) and memory disorder (72.9%). Tabes dorsalis is often presented as neurotic symptoms. One hundred fifty patients (10.6%) with symptomatic neurosyphilis presented candy signs, a rare and specific neurosyphilis symptom that is common in general paresis. Girdle sensation was presented in 13 patients, mainly with tabes dorsalis, which had not been reported in previous studies.
CONCLUSIONS
Notably, the candy sign is identified as a specific symptom of general paresis, while girdle sensations are highlighted as a particular symptom of tabes dorsalis. This is the largest study describing the clinical spectrum of neurosyphilis since the onset of the penicillin era and could help doctors learn more about the disease. A comprehensive description of the possible clinical manifestations of late symptomatic neurosyphilis, particularly highlighting rare symptoms, can identify suspicious patients and prevent diagnostic delays.
PubMed: 38902025
DOI: 10.1136/sextrans-2024-056117 -
Skin Research and Technology : Official... Jun 2024Dermatomyositis (DM) manifests as an autoimmune and inflammatory condition, clinically characterized by subacute progressive proximal muscle weakness, rashes or both...
BACKGROUND
Dermatomyositis (DM) manifests as an autoimmune and inflammatory condition, clinically characterized by subacute progressive proximal muscle weakness, rashes or both along with extramuscular manifestations. Literature indicates that DM shares common risk factors with atherosclerosis (AS), and they often co-occur, yet the etiology and pathogenesis remain to be fully elucidated. This investigation aims to utilize bioinformatics methods to clarify the crucial genes and pathways that influence the pathophysiology of both DM and AS.
METHOD
Microarray datasets for DM (GSE128470, GSE1551, GSE143323) and AS (GSE100927, GSE28829, GSE43292) were retrieved from the Gene Expression Omnibus (GEO) database. The weighted gene co-expression network analysis (WGCNA) was used to reveal their co-expressed modules. Differentially expression genes (DEGs) were identified using the "limma" package in R software, and the functions of common DEGs were determined by functional enrichment analysis. A protein-protein interaction (PPI) network was established using the STRING database, with central genes evaluated by the cytoHubba plugin, and validated through external datasets. Immune infiltration analysis of the hub genes was conducted using the CIBERSORT method, along with Gene Set Enrichment Analysis (GSEA). Finally, the NetworkAnalyst platform was employed to examine the transcription factors (TFs) responsible for regulating pivotal crosstalk genes.
RESULTS
Utilizing WGCNA analysis, a total of 271 overlapping genes were pinpointed. Subsequent DEG analysis revealed 34 genes that are commonly found in both DM and AS, including 31 upregulated genes and 3 downregulated genes. The Degree Centrality algorithm was applied separately to the WGCNA and DEG collections to select the 15 genes with the highest connectivity, and crossing the two gene sets yielded 3 hub genes (PTPRC, TYROBP, CXCR4). Validation with external datasets showed their diagnostic value for DM and AS. Analysis of immune infiltration indicates that lymphocytes and macrophages are significantly associated with the pathogenesis of DM and AS. Moreover, GSEA analysis suggested that the shared genes are enriched in various receptor interactions and multiple cytokines and receptor signaling pathways. We coupled the 3 hub genes with their respective predicted genes, identifying a potential key TF, CBFB, which interacts with all 3 hub genes.
CONCLUSION
This research utilized comprehensive bioinformatics techniques to explore the shared pathogenesis of DM and AS. The three key genes, including PTPRC, TYROBP, and CXCR4, are related to the pathogenesis of DM and AS. The central genes and their correlations with immune cells may serve as potential diagnostic and therapeutic targets.
Topics: Humans; Computational Biology; Dermatomyositis; Atherosclerosis; Biomarkers; Protein Interaction Maps; Gene Expression Profiling; Databases, Genetic; Gene Regulatory Networks
PubMed: 38899746
DOI: 10.1111/srt.13808 -
BMC Infectious Diseases Jun 2024Phytobacter diazotrophicus (P. diazotrophicus) is an opportunistic pathogen that causes nosocomial outbreaks and sepsis. However, there are no reports of P....
BACKGROUND
Phytobacter diazotrophicus (P. diazotrophicus) is an opportunistic pathogen that causes nosocomial outbreaks and sepsis. However, there are no reports of P. diazotrophicus isolated from human blood in China.
CASE PRESENTATION
A 27-day-old female infant was admitted to our hospital with fever and high bilirubin levels. The clinical features included jaundice, abnormal coagulation, cholestasis, fever, convulsions, weak muscle tension, sucking weakness, ascites, abnormal tyrosine metabolism, cerebral oedema, abnormal liver function, clavicle fracture, and haemolytic anaemia. The strain isolated from the patient's blood was identified as P. diazotrophicus by whole-genome sequencing (WGS). Galactosemia type 1 (GALAC1) was diagnosed using whole-exome sequencing (WES). Based on drug sensitivity results, 10 days of anti-infective treatment with meropenem combined with lactose-free milk powder improved symptoms.
CONCLUSION
P. diazotrophicus was successfully identified in a patient with neonatal sepsis combined with galactosemia. Galactosemia may be an important factor in neonatal sepsis. This case further expands our understanding of the clinical characteristics of GALAC1.
Topics: Humans; Female; China; Galactosemias; Sepsis; Infant, Newborn; Anti-Bacterial Agents; Meropenem; Whole Genome Sequencing; Gammaproteobacteria
PubMed: 38898413
DOI: 10.1186/s12879-024-09458-y -
Frontiers in Neurology 2024Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy, resulting from the degeneration of motor... (Review)
Review
Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy, resulting from the degeneration of motor neurons in the spinal cord. A critical aspect of SMA is its impact on respiratory function. As the disease progresses, respiratory muscles, in particular intercostal muscles, become increasingly affected, leading to breathing difficulties and respiratory failure. Without intervention, many children with SMA type 1 die from respiratory failure before their second year of life. While assisted ventilation has improved survival, it often results in ventilator dependence. The development of new SMN-augmenting therapies has renewed optimism, but their long-term impact on respiratory function is uncertain, and non-invasive respiratory support remains an important part of SMA management. Despite the importance of respiratory support in SMA, knowledge regarding sleep disorders in this population is limited. This review aims to synthesize existing literature on sleep and sleep-related breathing disorders in patients with SMA, with a focus on SMA type 1. We summarize evidence of sleep-disordered breathing and respiratory failure in SMA, as well as outcomes and survival benefits associated with non-invasive or invasive ventilation with or without pharmacological therapies. We also discuss current knowledge regarding the effects of novel disease-modifying therapies for SMA on respiratory function and sleep. In conclusion, optimal care for children with SMA requires a multidisciplinary approach that includes neurology and respiratory specialists. This review highlights the importance of monitoring sleep and respiratory function in SMA, as well as the potential benefits and challenges associated with assisted ventilation combined with new therapies.
PubMed: 38895692
DOI: 10.3389/fneur.2024.1299205 -
Sensors (Basel, Switzerland) Jun 2024We assessed the feasibility of implementing a virtually guided Neuromuscular Electrical Stimulation (NMES) protocol over the tibialis anterior (TA) muscle while...
Using Physiological Markers to Assess Comfort during Neuromuscular Electrical Stimulation Induced Muscle Contraction in a Virtually Guided Environment: Pilot Study for a Path toward Combating ICU-Acquired Weakness.
We assessed the feasibility of implementing a virtually guided Neuromuscular Electrical Stimulation (NMES) protocol over the tibialis anterior (TA) muscle while collecting heart rate (HR), Numeric Pain Rating Scale (NPRS), and quality of contraction (QoC) data. We investigated if HR, NPRS, and QoC differ ON and OFF the TA motor point and explored potential relationships between heart rate variability (HRV) and the NPRS. Twelve healthy adults participated in this cross-sectional study. Three NMES trials were delivered ON and OFF the TA motor point. HR, QoC, and NPRS data were collected. There was no significant difference in HRV ON and OFF the motor point ( > 0.05). The NPRS was significantly greater OFF the motor point ( < 0.05). The QoC was significantly different between motor point configurations ( < 0.05). There was no correlation between the NPRS and HRV ( > 0.05, r = -0.129). We recommend non-electrical methods of measuring muscle activity for future studies. The NPRS and QoC can be administered virtually. Time-domain HRV measures could increase the validity of the protocol. The variables should be explored further virtually to enhance the protocol before eventual ICU studies.
Topics: Humans; Male; Pilot Projects; Adult; Female; Electric Stimulation; Muscle Contraction; Heart Rate; Muscle Weakness; Cross-Sectional Studies; Intensive Care Units; Muscle, Skeletal; Young Adult; Biomarkers
PubMed: 38894392
DOI: 10.3390/s24113599 -
Diagnostics (Basel, Switzerland) May 2024(1) Background: Neurologic and musculoskeletal diseases represent a considerable portion of the underlying etiologies responsible for the widely prevalent symptoms of... (Review)
Review
(1) Background: Neurologic and musculoskeletal diseases represent a considerable portion of the underlying etiologies responsible for the widely prevalent symptoms of pain, weakness, numbness, and paresthesia. Because of the subjective and often nonspecific nature of these symptoms, different diagnostic modalities have been explored and utilized. (2) Methods: Literature review. (3) Results: Nerve and muscle biopsy remains the gold standard for diagnosing many of the responsible neurological and musculoskeletal conditions. However, the need for invasive tissue sampling is diminishing as more investigations explore alternative diagnostic modalities. Because of this, it is important to explore the current role of neurosurgical intervention for nerve and muscle biopsies and its current relevance in the diagnostic landscape of neurological and musculoskeletal disorders. With consideration of the role of nerve and muscle biopsy, it is also important to explore innovations and emerging techniques for conducting these procedures. This review explores the indications and emerging techniques for neurological intervention for nerve and muscle biopsies. (4) Conclusions: The role of neurosurgical intervention for nerve and muscle biopsy remains relevant in diagnosing many neurological and musculoskeletal disorders. Biopsy is especially relevant as a supportive point of evidence for diagnosis in atypical cases. Additionally, emerging techniques have been explored to guide diagnostics and biopsy, conduct less invasive biopsies, and reduce risks of worsening neurologic function and other symptoms secondary to biopsy.
PubMed: 38893695
DOI: 10.3390/diagnostics14111169 -
Diagnostics (Basel, Switzerland) May 2024Parkinson's disease (PD) is an advancing neurodegenerative disorder characterized by spinal anomalies and muscular weakness, which may restrict daily functional...
BACKGROUND
Parkinson's disease (PD) is an advancing neurodegenerative disorder characterized by spinal anomalies and muscular weakness, which may restrict daily functional capacities. A gender-focused examination of these effects could provide valuable insights into customized rehabilitation strategies for both sexes.
PURPOSE
This study investigates the influence of spinal alignment on lower-limb function during the sit-to-stand (STS) movement in patients with Parkinson's disease compared to healthy individuals.
METHODS
A cross-sectional study was conducted with 43 consecutive patients with PD (25 males and 18 females; average age 73.7 ± 7.1 years) and 42 healthy controls (22 males and 20 females; average age 69.8 ± 6.0 years). Assessments included the International Physical Activity Questionnaire (IPAQ), Hoehn and Yahr staging, and measurements of vertical deviations from several spinal landmarks. Lower-limb muscle power during the STS task was evaluated using the Muscle Quality Index (MQI).
RESULTS
Both absolute (Watts) and relative (Watts/Kg) muscle power in the lower limbs were notably decreased in the PD group compared to the control group. Within the PD cohort, muscle power showed a negative relationship with age and a positive association with the degree of lumbar lordosis (PL-L3). Importantly, gender-specific analysis revealed that male patients with PD had significantly higher lower-limb muscle power compared to female patients with PD, highlighting the need for gender-tailored therapeutic approaches.
CONCLUSIONS
The findings suggest that preserving lumbar lordosis is crucial for maintaining effective lower-limb muscle biomechanics in individuals with Parkinson's disease.
PubMed: 38893669
DOI: 10.3390/diagnostics14111143 -
Journal of Clinical Medicine Jun 2024To show the superiority of eccentric versus concentric strengthening in terms of improving quadriceps strength in knee osteoarthritis (OA), a randomized controlled...
To show the superiority of eccentric versus concentric strengthening in terms of improving quadriceps strength in knee osteoarthritis (OA), a randomized controlled study was conducted to perform 12 sessions of either eccentric or concentric isokinetic muscle strengthening over 6 weeks. We recruited males and females, aged between 40 and 70 years, with predominantly unilateral femorotibial OA. Exclusion criteria were having a prosthesis, inflammatory arthritis or flare-up of OA, symptomatic patellofemoral OA, cardiovascular or pulmonary disease that could be a contraindication to the study treatment, and any pathology that could cause muscle weakness. The primary endpoint was the between-group difference in change in maximum concentric isokinetic knee extension peak torque (PT) at 60°/s on the OA side at 6 weeks. Secondary endpoints were between-group difference in change in concentric hamstring PT at 60°/s; eccentric quadriceps and hamstring PT at 30°/s; 10 m and 200 m walking speeds; pain and functional status (WOMAC score) at 6 weeks and 6 months. The sample consisted of 11 females and 27 males, with a mean age of 57.7 ± 7.52 years and a body mass index (BMI) of 25.95 ± 3.93 kg/m. Quadriceps strength increased more at 6 weeks in the concentric than the eccentric group with no statistical difference. There was a rate of 25% major adverse events in the eccentric group. Eccentric training resulted in a smaller improvement in quadriceps strength than concentric training and was associated with a high risk of muscle injury, particularly to the hamstring muscles.
PubMed: 38893028
DOI: 10.3390/jcm13113318 -
Journal of Clinical Medicine May 2024The most common post-acute consequences of SARS-CoV-2 include lung dysfunction, the impairment of cognitive functions and mental health, as well as the impairment of...
The most common post-acute consequences of SARS-CoV-2 include lung dysfunction, the impairment of cognitive functions and mental health, as well as the impairment of the musculoskeletal system in the form of fatigue and muscle weakness. Post-COVID-19 patients often experience impaired balance and reduced physical capacity. It is important to implement a rehabilitation program that eliminates the side effects of COVID-19 and allows for significant improvement in the patient's functionality. The aim of our study was to assess patient functionality after a 6-week rehabilitation program on balance, foot pressure distribution, and physical capacity in post-COVID-19 patients. The clinical study group consisted of 53 people 3 months after COVID-19 infection, confirmed by a positive PCR test. Exclusion from the study included people with comorbidities that impaired balance and gait. The patients underwent a posturographic assessment-Romberg test, a baropodometric assessment-static and dynamic, and a performance assessment-a 6 min walk test determining shortness of breath on the mMRC scale, blood pressure, heart rate, and saturation. Patients participated in rehabilitation until the sixth week, after which they were assessed again. Comparisons were made using IBM SPSS Statistics 27.0 software using the Wilcoxon pairwise order test, at a significance level of < 0.05. The result of the postural control assessment showed an improvement in the ability to maintain the centre of gravity in terms of the foot support area-statistical decreases were observed in the ellipse area, from 745.28 mm to 453.52 mm ( = 0.009), as well as maximum (from 3133.5 gr/cm to 2994.2 gr/cm; = 0.065) and average load on the left foot (from 1010.1 gr/cm to 969.38 gr/cm; = 0.028). In the 6 min walk test before and after exercise, the heart rate decreased after the therapy (shortness of breath on the mMRC scale also decreased from 79.12 to 74.95). This means that patients achieved better physical fitness and efficiency. Rehabilitation significantly improved balance, as measured by a decrease in ellipse area during the Romberg test
PubMed: 38892974
DOI: 10.3390/jcm13113257