Essential tremor (ET) is a common movement disorder. It is characterized by a distinctive 4-12 Hz action tremor typically affecting bilateral upper limbs. Existing drugs for ET mainly include β-blockers, anticonvulsants, benzodiazepines, etc. However, the efficacy of existing drugs is limited. With the development of the medical research, some progress has been made in the treatment of ET. The review will explore the recent advances in the treatment of ET,such as new drugs, surgical treatment, repetitive transcranial magnetic stimulation, rehabilitation treatment, etc., in order to provide clinical application prospects.

Essential tremor (ET) is one of the most common movement disorders. Its clinical manifestations not only include typical kinetic and/or postural tremors, but also other non-motor symptoms such as cognitive dysfunction, sleep disturbance, and dysosmia. The exact etiology and pathogenesis of ET is still unknown. Approximately 60% of ET patients have a family history, and genetic factor plays an important role in the onset of the disease. Researchers have so far identified 3 genetic loci (ETM 1-3) through family studies, and proposed additional causative genes such as FUS, HTRA2, TENM4, NOS3 and susceptibility genes such as LINGO, SLC1A2, and GABA. This review focuses on the progress made in genetic research on ET.
Essential Tremor ; etiology ; genetics ; Genetic Predisposition to Disease ; Genetic Research ; High-Temperature Requirement A Serine Peptidase 2 ; genetics ; Humans ; Membrane Proteins ; genetics ; Nerve Tissue Proteins ; genetics ; RNA-Binding Protein FUS ; genetics

Objective To investigate the clinical features of constipation in patients with Parkinson 's disease (PD) and explore the relationship between constipation and motor symptoms.Methods The data of 221 PD patients were collected.Patients were evaluated with following scales:Rome Ⅲ criteria for diagnosis of functional constipation,unified Parkinson's disease rating scale part Ⅲ (UPDRS Ⅲ),and simple mental status examination scale (MMSE).Results Among 221 PD patients,132 (59.7％) had constipation,and 48 (36.4％) experienced constipation before motor symptoms.Compared to those without constipation,PD patients with constipation had a higher UPDRS Ⅲ scores,posture/gait scores,and axis scores (P ＜ O.05).The most common symptoms of PD patients with constipation were defecation straining (93.9％).Conclusions PD patients with constipation have severer motor symptoms than those without constipation.Defecation straining is the most common subtypes of PD patients with constipation.

Objective To investigate the change of body mass index (BMI) in Parkinson's disease (PD) and its association with disease severity.Methods SPSS 22.0 was used for data analysis of one hundred and sixty-eight PD patients and one hundred and fifteen healthy controls.Results BMI value was obviously declined in PD (P =0.001).Decrease of BMI in PD was associated with increase of disease duration (r =-0.270,P =0.001),total score of Unified Parkinson~ Disease Rating Scale (UPDRS) (r =-0.195,P =0.008),score of UPDRS part Ⅱ (r =-0.147,P =0.045),score of UPDRS part Ⅲ (r =-0.159,P =0.030),H-Y grading (r =-0.256,P =0.001),and mini-mental state examination (MMSE) (r =0.291,P =O.001).Conclusions BMI declines more obviously in PD patients than in healthy controls.PD Patients with longer disease duration and severe motor symptoms have a higher risk of BMI loss.

Objective To explore the correlated factors and clinical features of cognitive impariment in parkinson's disease (PD).Methods A total of 419 patients with PD were collected from Xiangya Hospital of Centre-South University during Mar 1st,2017 to Nov 30th,2017.The cognitive functions of patients were assessed with the Mini-Mental State Examination (MMSE),and the basic information and the motor symptoms of 419 PD patients were selected at the same time.The PD patients were classified into three groups according to the MMSE score:PD with no cognitive impairment (PD-NC),mild cognitive impairment in PD (PD-MCI),and Dementia in PD (PD-D).The data were analyzed by SPSS 20.0.Results There were 156 patients with PD-MCI (37.2％) and 64 patients with PD-D (15.3％).The difference of sex and disease duration among three groups were not statistically significant (P ＞ 0.05).The significant difference was found among PD-D,PD-MCI,and PD-NC groups in age of onset,age,educational attainment,Unified Parkinson's disease Rating Scale (UPDRS)-Ⅱ score,UPDRS-Ⅲ score and Hoehn-Yahr stage (P ＜ 0.05).There were significant differences among three groups in MMSE score and its items (P ＜ 0.01).Logistics regression analysis found that the age of onset,educational attainment,and Hoehn-Yahr stage were the risk factors of cognitive impairment in PD patients (P ＜ 0.05).Conclusions Cognitive impairment is common in PD patients,and it is relevant to the age of onset,educational attainment and the severity of illness of PD patients.

Essential tremor(ET)is one of the most common movement disorders, with a prevalence of 4.6% in people over 65 years old.Action tremor of both upper limbs at 4-12 Hz action tremor in both upper limbs is the main clinical feature of ET patients.ET was previously considered to be a benign isolated symptomatic disease, but in recent years, researches have found that ET is a family of diseases with high clinical and genetic heterogeneities.In addition to tremor, it can also be accompanied by soft neurological signs and various non-motor symptoms, leading to different degrees of function impairment in patients.Early comprehensive evaluation and long-term follow-up of patients with ET are essential.The standardized scale is the most important tool for ET assessment.This article reviews various tremor assessment scales.

Parkinson's disease (PD) is a common neurodegenerative disease characterized by bradykinesia,resting tremor,muscle rigidity,and abnormal gait posture.Ocular motor function test plays an important part in neurological examinations.It has been widely accepted that specific ocular motor patterns contribute to diagnosis of Parkinsonian syndrome including progressive supranuclear palsy and multiple system atrophy.However,recent studies have shown that patients of PD may also exhibit specific eye movement disorders,which will be helpful in the early diagnosis,evaluation and differential diagnosis of PD.In 2015,the Movement Disorder Society clinical diagnostic criteria for Parkinson's disease suggested that sustained staring evoked nystagmus could be used as an exclusive criterion for PD.The clinical features,detection methods and clinical significance of oculomotor dysfunction in PD are reviewed in this article.

Objective:To summarize the nursing experience of 3 patients with Balamuthia mandrillaris infection after organ transplantation (1 case of secondary liver transplantation, 2 cases of kidney transplantation). Methods:The personalized nursing care was provided to 3 Balamuthia mandrillaris infected patients admitted to the First Affiliated Hospital of Guangxi Medical University in October 2022 after organ transplantation. The key points of nursing care: understanding the disease and early identification of Balamuthia mandrillaris infection; disinfecting and isolating to prevent cross-infection; closely monitoring the changes in patients′ condition and implementing various treatment and nursing measures. Results:After active treatment and care,1 patient died,1 patient′s condition worsened and his family signed to give up treatment and discharged, and 1 patient was transferred back to the ward after being out of danger and in stable condition.Conclusions:Individualized and comprehensive nursing measures for these 3 Balamuthia mandrillaris infected patients can improve the prognosis and survival rate of patients.

OBJECTIVE: To investigate the mutation of small sequence changes in microRNA-7 gene in Chinese patients with Parkinson's disease (PD). METHODS: We analyzed miR-7 variants in 225 PD patients from Chinese Han group by DNA sequence. RESULTS: None of the patients had miR-7 variants. CONCLUSION MiR-7 variation is not associated with PD in Chinese patients.
Aged ; Base Sequence ; China ; ethnology ; Female ; Humans ; Male ; MicroRNAs ; genetics ; Middle Aged ; Molecular Sequence Data ; Mutation ; Parkinson Disease ; genetics

Background::Genetic variants of dopaminergic transcription factor-encoding genes are suggested to be Parkinson’s disease (PD) risk factors; however, no comprehensive analyses of these genes in patients with PD have been undertaken. Therefore, we aimed to genetically analyze 16 dopaminergic transcription factor genes in Chinese patients with PD.Methods::Whole-exome sequencing (WES) was performed using a Chinese cohort comprising 1917 unrelated patients with familial or sporadic early-onset PD and 1652 controls. Additionally, whole-genome sequencing (WGS) was performed using another Chinese cohort comprising 1962 unrelated patients with sporadic late-onset PD and 1279 controls.Results::We detected 308 rare and 208 rare protein-altering variants in the WES and WGS cohorts, respectively. Gene-based association analyses of rare variants suggested that MSX1 is enriched in sporadic late-onset PD. However, the significance did not pass the Bonferroni correction. Meanwhile, 72 and 1730 common variants were found in the WES and WGS cohorts, respectively. Unfortunately, single-variant logistic association analyses did not identify significant associations between common variants and PD. Conclusions::Variants of 16 typical dopaminergic transcription factors might not be major genetic risk factors for PD in Chinese patients. However, we highlight the complexity of PD and the need for extensive research elucidating its etiology.