Humans ; Spinal Cord Injuries/complications* ; Paralysis/etiology* ; Nervous System Diseases ; Brain

Parkinson's disease (PD) is a common neurodegenerative disease characterized by motor symptoms, including bradykinesia, resting tremor, and progressive rigidity. More recently, non-motor symptoms of PD, such as pain, depression and anxiety, and autonomic dysfunction, have attracted increasing attention from scientists and clinicians. As one of non-motor symptoms, pain has high prevalence and early onset feature. Because the mechanism of PD-related pathological pain is unclear, the clinical therapy for treating PD-related pathological pain is very limited, with a focus on relieving the symptoms. This paper reviewed the clinical features, pathogenesis, and therapeutic strategies of PD-related pathological pain and discussed the mechanism of the chronicity of PD-related pathological pain, hoping to provide useful data for the study of drugs and clinical intervention for PD-related pathological pain.
Humans ; Parkinson Disease/therapy* ; Neurodegenerative Diseases ; Autonomic Nervous System Diseases/complications* ; Anxiety ; Pain/etiology*

Animals ; Caffeine/adverse effects* ; Central Nervous System Stimulants/adverse effects* ; Dose-Response Relationship, Drug ; Female ; Fetal Growth Retardation/chemically induced* ; Immune System Diseases/chemically induced* ; Male ; Organ Size/drug effects* ; Pregnancy ; Pregnancy Complications/immunology* ; Rats ; Spleen/growth & development*

OBJECTIVE: To construct and validate a nomogram for predicting the risk of secondary peripheral neuropathy in patients with advanced lung cancer. METHODS: The sociodemographic and clinical data of 335 patients with advanced lung cancer admitted to Department of Respiratory, the First Affiliated Hospital of Zhejiang University School of Medicine from May 2020 to May 2021 were retrospectively collected. Pearson correlation analysis, univariate and multivariate logistic regression analyses were used to identify the risk factors of secondary peripheral neuropathy in patients with advanced lung cancer. A nomogram was constructed according to the contribution of each risk factor to secondary peripheral neuropathy, and the receiver operating characteristic (ROC) curve, Calibration curve and clinical decision curve were used to evaluate differentiation, calibration, and the clinical utility of the model. The nomogram was further validated with data from 64 patients with advanced lung cancer admitted between June 2021 and August 2021. RESULTS: The incidences of secondary peripheral neuropathy in two series of patients were 34.93% (117/335) and 40.63% (26/64), respectively. The results showed that drinking history ( OR=3.650, 95% CI: 1.523-8.746), comorbid diabetes ( OR=3.753, 95% CI: 1.396-10.086), chemotherapy ( OR=2.887, 95% CI: 1.046-7.970), targeted therapy ( OR=8.671, 95% CI: 4.107-18.306), immunotherapy ( OR=2.603, 95% CI: 1.337-5.065) and abnormal liver and kidney function ( OR=12.409, 95% CI: 4.739-32.489) were independent risk factors for secondary peripheral neuropathy (all P<0.05). A nomogram was constructed based on the above risk factors. The area under the ROC curve (AUC) of the nomogram for predicting the secondary peripheral neuropathy was 0.913 (95% CI: 0.882-0.944); and sensitivity, specificity, positive and negative predictive values were 85.47%, 81.65%, 71.43% and 91.28%, respectively. The Calibration curve and clinical decision curve showed good calibration and clinical utility. External validation results showed that the AUC was 0.764 (95% CI: 0.638-0.869); and sensitivity, specificity, positive and negative predictive values were 79.28%, 85.79%, 73.25% and 85.82%, respectively. CONCLUSIONS Advanced lung cancer patients have a high risk of secondary peripheral neuropathy after anticancer therapy. Drinking history, comorbid diabetes, chemotherapy, targeted therapy, immunotherapy, abnormal liver and kidney function are independent risk factors. The nomogram prediction model constructed in the study is effective and may be used for the risk assessment of secondary peripheral neuropathy in patients with advanced lung cancer.
Humans ; Nomograms ; Retrospective Studies ; Peripheral Nervous System Diseases/etiology* ; Risk Factors ; Lung Neoplasms/complications*

Since December 2019, a series of highly infectious cases of unexplained pneumonia have been discovered in Wuhan, Hubei Province, which have been confirmed as '2019 corona virus disease' caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). SARS-CoV-2 virus can invade many human systems including the lungs. Patients with central nervous system involvement may show a series of neurological symptoms, which is easy to be misdiagnosed and neglected, thereby increasing the risk of SARS-CoV-2 transmission. Hereditary ataxia is a large group of neurodegenerative diseases with great clinical and genetic heterogeneity and high mortality and disability. In view of the seriousness of the COVID-19 epidemic, a series of prevention and control measures adopted by the government have restricted the follow-up, diagnosis and treatment of patients by the hospitals, which has a great impact on their mental and physical health. In order to standardize the management of patients during the prevention and control of COVID-19 epidemic, the Specialized Committee of Neurogenetics of the Neurophysician Branch of Chinese Medical Doctor Association has formulated this consensus, with an aim to help patients to overcome the difficulties and pass the epidemic prevention period safely.
Betacoronavirus ; China ; epidemiology ; Consensus ; Coronavirus Infections ; complications ; epidemiology ; Epidemics ; Health Status ; Humans ; Mental Health ; Nervous System Diseases ; virology ; Pandemics ; Pneumonia, Viral ; complications ; epidemiology ; Spinocerebellar Degenerations ; complications ; diagnosis ; prevention & control ; therapy

BACKGROUND AND PURPOSE: Restless legs syndrome (RLS) is a common sleep-related neurological disorder that affects the quality of sleep. This study aimed to estimate the prevalence, predictive factors, and natural course of RLS, and its effect on sleep quality in pregnant Thai women. METHODS: A cross-sectional study that included 214 pregnant women was performed. RLS was diagnosed according to the revised criteria of the International RLS Study Group (IRLSSG). General demographic and antenatal-care data were reviewed. Scores on the Thai versions of the Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index, and the IRLSSG Rating Scale were determined. RESULTS: RLS was diagnosed in 24 of the pregnant women (11.2%): 4.2%, 25.0%, and 70.8% in the first, second, and third trimesters, respectively. Multiple logistic regression analysis revealed that a hemoglobin level (Hb) less than 11 g/dL [odds ratio (OR)=3.21, 95% CI=1.27–8.13] and a history of RLS (OR=16.62, 95% CI=1.52–181.32) were associated with RLS during pregnancy. Subjects with RLS significantly had higher Thai-ESS scores (p < 0.01). All subjects with RLS had severe symptoms that subsided within 1 week after delivery. No immediate labor complication was associated with RLS. CONCLUSIONS: Our study has confirmed a high prevalence of RLS and its impacts on sleep in pregnant women. An Hb of less than 11 g/dL and a history of RLS are predictive factors for RLS developing during pregnancy. Pregnancy-related RLS has a benign course and usually disappears within 1 week after delivery.
Anemia ; Asian Continental Ancestry Group* ; Cross-Sectional Studies ; Female ; Humans ; Logistic Models ; Nervous System Diseases ; Obstetric Labor Complications ; Pregnancy ; Pregnancy Trimester, Third ; Pregnant Women ; Prevalence* ; Restless Legs Syndrome* ; Sleep Wake Disorders

PURPOSE: Fat embolism syndrome (FES) is systemic manifestation of fat emboli in the circulation seen mostly after long bone fractures. FES is considered a lethal complication of trauma. There are various case reports and series describing FES. Here we describe the clinical characteristics, management in ICU and outcome of these patients in level I trauma center in a span of 6 months. METHODS: In this prospective study, analysis of all the patients with FES admitted in our polytrauma intensive care unit (ICU) of level I trauma center over a period of 6 months (from August 2017 to January 2018) was done. Demographic data, clinical features, management in ICU and outcome were analyzed. RESULTS: We admitted 10 cases of FES. The mean age of patients was 31.2 years. The mean duration from time of injury to onset of symptoms was 56 h. All patients presented with hypoxemia and petechiae but central nervous system symptoms were present in 70% of patients. The mean duration of mechanical ventilation was 11.7 days and the mean length of ICU stay was 14.7 days. There was excellent recovery among patients with no neurological deficit. CONCLUSION FES is considered a lethal complication of trauma but timely management can result in favorable outcome. FES can occur even after fixation of the fracture. Hypoxia is the most common and earliest feature of FES followed by CNS manifestations. Any patient presenting with such symptoms should raise the suspicion of FES and mandate early ICU referral.
Adolescent ; Adult ; Central Nervous System Diseases ; etiology ; Early Diagnosis ; Embolism, Fat ; diagnosis ; etiology ; prevention & control ; Fractures, Bone ; complications ; Humans ; Hypoxia ; etiology ; Intensive Care Units ; statistics & numerical data ; Length of Stay ; statistics & numerical data ; Male ; Patient Outcome Assessment ; Time Factors ; Trauma Centers ; statistics & numerical data ; Young Adult

OBJECTIVE: To explore the clinical, electrophysiological and imaging features of a patient with Krabbe disease caused by GALC mutation. METHODS: A comprehensive analysis including clinical investigation and genetic testing was carried out. RESULTS: The patient presented with peripheral neuropathy with electrophysiological anomaly suggestive of asymmetric demyelinating neuropathy. Brain imaging revealed leukoencephalopathy. Genetic analysis has identified compound heterozygous mutations in exons 5 and 11 of the GALC gene, namely c.461C>A and c.1244G>A. CONCLUSION Krabbe disease is a group of disorders featuring substantial phenotypic heterogeneity. Genetic and enzyme testing has become indispensable for accurate diagnosis for this disease.
DNA Mutational Analysis ; Galactosylceramidase ; genetics ; Genetic Testing ; Humans ; Leukodystrophy, Globoid Cell ; complications ; genetics ; Mutation ; Peripheral Nervous System Diseases ; etiology

BACKGROUND: Diabetic nephropathy (DN) is the most serious microvascular complication of diabetes mellitus and is one of the leading causes of end stage renal failure. In previous studies, the contribution of genetic susceptibility to DN showed inconsistent results. In this study, we investigated the association between the solute carrier family 2 facilitated glucose transporter member 1 (SLC2A1) HaeIII polymorphism and DN in Korean patients with type 2 diabetes mellitus (T2DM) according to disease duration. METHODS: A total of 846 patients with T2DM (mean age, 61.3 ± 12.3 years; mean duration of T2DM, 10.3 ± 7.9 years; 55.3% men) who visited the Chungbuk National University Hospital were investigated. The HaeIII polymorphism of the SLC2A1 gene was determined by the real time polymerase chain reaction method. Genotyping results were presented as GG, AG, or AA. A subgroup analysis was performed according to duration of T2DM (≤ 10 years, < 10 years). RESULTS: The AG + AA genotype showed a significantly higher risk of DN compared with the GG genotype in patients with a type 2 DM duration less than 10 years (12.4% vs. 4.2%; P < 0.001). No significant differences were observed in terms of other diabetic complications, including retinopathy, peripheral neuropathy, cardiovascular disease, cerebrovascular disease or peripheral artery disease, according to the genotypes of the SLC2A1 HaeIII polymorphism. CONCLUSION: The SLC2A1 HaeIII polymorphism was associated with DN in Korean patients with T2DM, particularly in the group with a relatively short disease duration.
Cardiovascular Diseases ; Cerebrovascular Disorders ; Chungcheongbuk-do ; Diabetes Complications ; Diabetes Mellitus ; Diabetes Mellitus, Type 2 ; Diabetic Nephropathies ; Genetic Predisposition to Disease ; Genotype ; Glucose Transport Proteins, Facilitative ; Humans ; Methods ; Peripheral Arterial Disease ; Peripheral Nervous System Diseases ; Polymorphism, Single Nucleotide ; Real-Time Polymerase Chain Reaction ; Renal Insufficiency

Central Nervous System Diseases ; etiology ; Child ; Female ; Humans ; Infant ; Lymphohistiocytosis, Hemophagocytic ; complications ; diagnosis ; genetics ; Magnetic Resonance Imaging ; Male ; Mutation ; Perforin ; genetics