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1.
Obes Surg ; 33(11): 3353-3361, 2023 11.
Article in English | MEDLINE | ID: mdl-37752326

ABSTRACT

BACKGROUND/OBJECTIVE: Nowadays, increasing clinical evidence on metabolic and weight-loss effects of bariatric surgery on improving cardiac structure in obese patients, but its application in improving the cardiac function of HF (heart failure) patients remains controversial. The objective of this meta-analysis was to assess the effects of BS on cardiac function by quantifying the changes of LVEF (left ventricular ejection fraction) and NYHA (New York Heart Association classification) after operations in non-HFpEF (heart failure and preserved ejection fraction) patients. METHODS: Articles were searched using PubMed and Embase from inception to December 9, 2022, and the Minors scale was used for quality assessments. The included patients should be non-HFpEF and clinically severely obese, and their pre-operative and post-operative values of LVEF or NYHA should be reported. RESULT: Nine studies involving 146 patients were eventually included with a final result showing that the cardiac functional parameters were improved in non-HFpEF patients. After a weighted mean follow-up time of 15.8 months, the mean NYHA decreased by 0.59 (I2 = 0; 95% CI 0.27 ~ 0.92; p = 0.003), and the mean LVEF increased by 7.49% (I2 = 0; 95% CI - 9.99 ~ - 4.99; p < 0.00001). CONCLUSION: Bariatric surgery offers beneficial cardiac effects on non-HFpEF patients with obesity but failed to show a significant improvement in the pooled analysis for the changes of cardiac parameters. The improving degree may be related to the baseline BMI, the extent of BMI loss, and the baseline age. Future studies should focus on finding out the influencing factors of effectivenesses and defining the suitable crowd.


Subject(s)
Bariatric Surgery , Heart Failure , Obesity, Morbid , Humans , Stroke Volume , Ventricular Function, Left , Obesity, Morbid/surgery , Obesity/surgery , Prognosis
2.
World J Clin Cases ; 10(19): 6664-6671, 2022 Jul 06.
Article in English | MEDLINE | ID: mdl-35979278

ABSTRACT

BACKGROUND: Mills' syndrome is an extremely rare degenerative motor neuron disorder first described by Mills in 1900, but its nosological status is still not clear. We aimed to analyze the clinical features of Mills' syndrome. CASE SUMMARY: Herein, we present 3 cases with similar features as those described in Mills' original paper and review the related literature. Our patients showed middle- and older-age onset, with only upper motor neuron symptoms evident throughout the course of the disease. Spastic hemiplegia began in the lower extremity with a unique progressive pattern. CONCLUSION: We consider that Mills' syndrome is a unique entity of motor neuron disorder with an N-shaped progression. Clinicians should maintain a high index of suspicion for the diagnosis of Mills' syndrome when the onset involves lower extremity paralysis without evidence of lower motor neuron or sensory involvement.

3.
Front Endocrinol (Lausanne) ; 13: 792439, 2022.
Article in English | MEDLINE | ID: mdl-35299961

ABSTRACT

Aim: Non-alcoholic fatty liver disease (NAFLD) is a health burden worldwide, which is closely related to obesity. The effect of sleeve gastrectomy (SG) on NAFLD is efficient, and the underlying mechanism remains unknown. Our study sought to investigate the mechanism of dual-specificity protein phosphatase 1 (DUSP1) expression regulation following the SG procedure in NAFLD patients and C57BL/6J mice via miR-200c-3p. Methods: The serum was extracted from NAFLD patients who underwent laparoscopic sleeve gastrectomy (LSG) and volunteers. Next, the correlation between miR-200c-3p and DUSP1 was identified in vitro. NAFLD mice were modelled by high-fat diets (HFD). The hepatic tissue expression levels of miR-200c-3p, DUSP1, phospho-extracellular regulated protein kinases1/2 (p-ERK1/2), phospho -p38 mitogen-activated protein kinases (p-p38), and phospho-c-Jun N-terminal kinases (p-JNK) induced by SG procedure were evaluated. Results: The SG procedure contributed to significant weight loss, reduced lipids in NAFLD patients and mice. The increased expression level of miR-200c-3p and reduced expression of DUSP1 were observed in NAFLD patients and mice (p<0.05). The reduced expression levels of miR-200c-3p and increased expression of DUSP1 were observed in patients and mice with NAFLD who underwent SG procedure. DUSP1 is a potential target of miR-200c-3p. Conclusions: A novel mechanism was identified in which miR-200c-3p regulates the MAPK-dependent signals that are linked to the promotion of hepatosteatosis via DUSP1 after sleeve gastrectomy. The findings suggested that miR-200c-3p should be further explored as a potential target for the treatments of NAFLD.


Subject(s)
Laparoscopy , MicroRNAs , Non-alcoholic Fatty Liver Disease , Animals , Dual Specificity Phosphatase 1/genetics , Gastrectomy/methods , Humans , Mice , Mice, Inbred C57BL , MicroRNAs/genetics , MicroRNAs/metabolism , Non-alcoholic Fatty Liver Disease/genetics , Non-alcoholic Fatty Liver Disease/metabolism
4.
World J Clin Cases ; 10(3): 1024-1031, 2022 Jan 21.
Article in English | MEDLINE | ID: mdl-35127916

ABSTRACT

BACKGROUND: Othello syndrome (OS) is characterized by delusional beliefs concerning the infidelity of a spouse or sexual partner, which may lead to extreme behaviors. Impulse control disorders refer to behaviors involving repetitive, excessive, and compulsive activities driven by an intense desire. Both OS and impulse control disorders in Parkinson's disease (PD) may be side effects of dopamine agonists. At present, there are only a few case reports and studies related to PD with concomitant OS and impulse control disorders. CASE SUMMARY: We describe a 70-year-old male patient with PD, OS, and impulse control disorders, who presented with a six-month history of the delusional belief that his wife was having an affair with someone. He began to show an obvious increase in libido presenting as frequent masturbation. He had been diagnosed with PD ten years earlier and had no past psychiatric history. In his fourth year of PD, he engaged in binge eating, which lasted approximately one year. Both OS and hypersexuality were alleviated substantially after a reduction of his pramipexole dosage and a prescription of quetiapine. CONCLUSION: Given its potential for severe consequences, OS should be identified early, especially in patients undergoing treatment with dopamine agonists.

5.
Eur Neurol ; 85(1): 24-30, 2022.
Article in English | MEDLINE | ID: mdl-34689144

ABSTRACT

BACKGROUND: Growing evidence suggests important effects of body mass index (BMI) and metabolic status on neurodegenerative diseases. However, the roles of BMI and metabolic status on cognitive outcomes in Parkinson's disease (PD) may vary and are yet to be determined. METHODS: In total, 139 PD patients from the whole PD cohort in Parkinson's Progression Markers Initiative database underwent complete laboratory measurements, demographic and anthropometric parameters at baseline, and were enrolled in this study. Further, they were categorized into 4 different BMI-metabolic status phenotypes using Adult Treatment Panel-III criteria. Motor and cognition scales at baseline and longitudinal changes after a 48-month follow-up were compared among the 4 groups. Repeated-measure linear mixed models were performed to compare PD-related biomarkers among BMI-metabolic status phenotypes across time. RESULTS: We found that PD patients in the metabolically unhealthy normal weight group showed more cognitive decline in global cognition and visuospatial perception after a 48-month follow-up than those in the other 3 groups (p < 0.05). No difference was found in motor scales among different BMI-metabolic status phenotypes. Finally, compared to the metabolically healthy normal weight group, the metabolically healthy obesity group had lower CSF Aß42 and serum neurofilament levels in repeated-measure linear mixed models adjusting for age, gender, APOE e4 carrier status, and years of education (p = 0.031 and 0.046, respectively). CONCLUSION: The MUNW phenotype was associated with a rapid cognitive decline in PD.


Subject(s)
Cognitive Dysfunction , Parkinson Disease , Biomarkers , Body Mass Index , Cognitive Dysfunction/complications , Disease Progression , Humans , Parkinson Disease/complications , Parkinson Disease/genetics , Phenotype
6.
Mov Disord ; 37(3): 545-552, 2022 03.
Article in English | MEDLINE | ID: mdl-34820915

ABSTRACT

BACKGROUND: Paroxysmal kinesigenic dyskinesia (PKD) is the most common type of paroxysmal dyskinesias. Only one-third of PKD patients are attributed to proline-rich transmembrane protein 2 (PRRT2) mutations. OBJECTIVE: We aimed to explore the potential causative gene for PKD. METHODS: A cohort of 196 PRRT2-negative PKD probands were enrolled for whole-exome sequencing (WES). Gene Ranking, Identification and Prediction Tool, a method of case-control analysis, was applied to identify the candidate genes. Another 325 PRRT2-negative PKD probands were subsequently screened with Sanger sequencing. RESULTS: Transmembrane Protein 151 (TMEM151A) variants were mainly clustered in PKD patients compared with the control groups. 24 heterozygous variants were detected in 25 of 521 probands (frequency = 4.80%), including 18 missense and 6 nonsense mutations. In 29 patients with TMEM151A variants, the ratio of male to female was 2.63:1 and the mean age of onset was 12.93 ± 3.15 years. Compared with PRRT2 mutation carriers, TMEM151A-related PKD were more common in sporadic PKD patients with pure phenotype. There was no significant difference in types of attack and treatment outcome between TMEM151A-positive and PRRT2-positive groups. CONCLUSIONS: We consolidated mutations in TMEM151A causing PKD with the aid of case-control analysis of a large-scale WES data, which broadens the genotypic spectrum of PKD. TMEM151A-related PKD were more common in sporadic cases and tended to present as pure phenotype with a late onset. Extensive functional studies are needed to enhance our understanding of the pathogenesis of TMEM151A-related PKD. © 2021 International Parkinson and Movement Disorder Society.


Subject(s)
Chorea , Dystonia , Membrane Proteins , Adolescent , Child , Female , Humans , Male , Chorea/genetics , Dystonia/genetics , Membrane Proteins/metabolism , Mutation/genetics , Phenotype
7.
J Gen Virol ; 102(11)2021 11.
Article in English | MEDLINE | ID: mdl-34747688

ABSTRACT

Kaposi's sarcoma-associated herpesvirus (KSHV), an oncogenic virus, has two life cycle modes: the latent and lytic phases. KSHV lytic reactivation is important for both viral propagation and KSHV-induced tumorigenesis. The KSHV replication and transcription activator (RTA) protein is essential for lytic reactivation. Hesperetin, a citrus polyphenolic flavonoid, has antioxidant, anti-inflammatory, hypolipidemic, cardiovascular and anti-tumour effects. However, the effects of hesperetin on KSHV replication and KSHV-induced tumorigenesis have not yet been reported. Here, we report that hesperetin induces apoptotic cell death in BCBL-1 cells in a dose-dependent manner. Hesperetin inhibits KSHV reactivation and reduces the production of progeny virus from KSHV-harbouring cells. We also confirmed that HIF1α promotes the RTA transcriptional activities and lytic cycle-refractory state of KSHV-infected cells. Hesperetin suppresses HIF1α expression to inhibit KSHV lytic reactivation. These results suggest that hesperetin may represent a novel strategy for the treatment of KSHV infection and KSHV-associated lymphomas.


Subject(s)
Antiviral Agents/pharmacology , Herpesviridae Infections/metabolism , Herpesvirus 8, Human/drug effects , Hesperidin/pharmacology , Hypoxia-Inducible Factor 1, alpha Subunit/metabolism , Virus Activation/drug effects , Apoptosis/drug effects , Gene Expression Regulation, Viral/drug effects , Herpesviridae Infections/genetics , Herpesviridae Infections/physiopathology , Herpesviridae Infections/virology , Herpesvirus 8, Human/genetics , Herpesvirus 8, Human/physiology , Humans , Hypoxia-Inducible Factor 1, alpha Subunit/genetics , Viral Proteins/genetics , Viral Proteins/metabolism , Virus Replication/drug effects
8.
World J Clin Cases ; 9(28): 8571-8578, 2021 Oct 06.
Article in English | MEDLINE | ID: mdl-34754870

ABSTRACT

BACKGROUND: Hypereosinophilia (HE) is defined as a peripheral blood eosinophil count of > 1.5 × 109/L and may be associated with tissue damage. The clinical presentations of HE vary; however, myocardial fibrosis and thrombosis can threaten the lives of patients with sustained eosinophilia. Cerebral venous sinus thrombosis (CVST) in the setting of eosinophil-related diseases has seldom been reported. Here, we review the literature on HE with CVST to increase knowledge and encourage early diagnosis. CASE SUMMARY: A previously healthy 41-year-old man was admitted to hospital with diarrhea and abdominal pain. He was treated with antibiotics for suspected acute colitis. Three days later, he experienced headache and vomiting. Brain computed tomography (CT) revealed thrombosis of the left jugular vein to the left transverse sinus vein. Platelet (PLT) count decreased to 60 × 1012/L, and absolute eosinophil count (AEC) increased to 2.41 × 109/L. He was treated with low-molecular-weight heparin. PLT count progressively decreased to 14 × 109/L, and we terminated anticoagulation and performed PLT transfusion. Six days after admission, he complained of a worsening headache. Brain CT revealed right temporal lobe and left centrum semiovale intracerebral hemorrhage, and AEC increased to 7.65 × 109/L. We used prednisolone for HE. The level of consciousness decreased, so emergency hematoma removal and decompressive craniectomy for right cerebral hemorrhage were performed. The patient was alert 2 d after surgery. He was treated with anticoagulation again 2 wk after surgery. Corticosteroids were gradually tapered without any symptomatic recurrence or abnormal laboratory findings. CONCLUSION: HE can induce CVST, and we need to focus on eosinophil counts in patients with CVST.

9.
World J Clin Cases ; 9(19): 5287-5293, 2021 Jul 06.
Article in English | MEDLINE | ID: mdl-34307580

ABSTRACT

BACKGROUND: Hemichorea usually results from vascular lesions of the basal ganglia. Most often, the lesion is contralateral to the affected limb but rarely, it may be ipsilateral. The pathophysiology of ipsilateral hemichorea is still poorly understood. We review the literature on hemichorea due to ipsilateral cerebral infarction and explore possible mechanisms for its occurrence. CASE SUMMARY: A 72-year-old woman presented with complaints of involuntary movements of the muscles of the left side of the face and mild weakness of the right limbs. Her symptoms had started suddenly 1 d earlier. After admission to the hospital, the involuntary movements spread to involve the left limbs also. Magnetic resonance imaging revealed a left thalamic infarction. The patient's hemichorea subsided after treatment with haloperidol (2 mg per time, 3 times/d) for 3 d; the hemiparesis resolved with rehabilitation physiotherapy. She is presently symptom free and on treatment for prevention of secondary stroke. We review the literature on the occurrence of ipsilateral hemichorea following thalamic infarction and discuss the possible pathomechanisms of this unusual presentation. CONCLUSION: Ipsilateral hemichorea following a thalamic stroke is rare but it can be explained by structure of the extrapyramidal system. The thalamus is a relay station that exerts a bilateral control of motor function.

10.
World J Clin Cases ; 9(7): 1720-1727, 2021 Mar 06.
Article in English | MEDLINE | ID: mdl-33728317

ABSTRACT

BACKGROUND: Nonketotic hyperglycemia (NKH) is characterized by hyperglycemia with little or no ketoacidosis. Diverse neurological symptoms have been described in NKH patients, including choreoathetosis, hemiballismus, seizures, and coma in severe cases. Homonymous hemianopia, with or without occipital seizures, caused by hyperglycemia is less readily recognized. CASE SUMMARY: We describe a 54-year-old man with NKH, who reported seeing round, colored flickering lights with right homonymous hemianopia. Cranial magnetic resonance imaging demonstrated abnormalities in the left occipital lobe, with decreased T2 signal of the white matter, restricted diffusion, and corresponding low signal intensity in the apparent diffusion coefficient map. He responded to rehydration and a low-dose insulin regimen, with improvements of his visual field defect. CONCLUSION: Patients with NKH may present focal neurologic signs. Hyperglycemia should be taken into consideration when making an etiologic diagnosis of homonymous hemianopia.

11.
World J Clin Cases ; 9(3): 623-631, 2021 Jan 26.
Article in English | MEDLINE | ID: mdl-33553400

ABSTRACT

BACKGROUND: Type 1 sialidosis, also known as cherry-red spot-myoclonus syndrome, is a rare autosomal recessive lysosomal storage disorder presenting in the second decade of life. The most common symptoms are myoclonus, ataxia and seizure. It is rarely encountered in the Chinese mainland. CASE SUMMARY: A 22-year-old male presented with complaints of progressive myoclonus, ataxia and slurred speech, without visual symptoms; the presenting symptoms began at the age of 15-year-old. Whole exome sequencing revealed two pathogenic heterozygous missense variants [c.239C>T (p.P80L) and c.544A>G (p.S182G) in the neuraminidase 1 (NEU1) gene], both of which have been identified previously in Asian patients with type 1 sialidosis. All three patients identified in Mainland China come from three unrelated families, but all three show the NEU1 mutations p.S182G and p.P80L pathogenic variants. Increasing sialidase activity through chaperones is a promising therapeutic target in sialidosis. CONCLUSION: Through retrospective analysis and summarizing the clinical and genetic characteristics of type 1 sialidosis, we hope to raise awareness of lysosomal storage disorders among clinicians and minimize the delay in diagnosis.

12.
Food Sci Nutr ; 9(2): 847-854, 2021 Feb.
Article in English | MEDLINE | ID: mdl-33598168

ABSTRACT

Kaposi's sarcoma-associated herpesvirus (KSHV), an oncogenic virus, has two life cycle modes: the latent and lytic phases. KSHV lytic reactivation is known to be important both for viral propagation and for KSHV-induced tumorigenesis. The KSHV replication and transcription activator (RTA) protein is essential for lytic reactivation. Gallic acid (GA), one of the most abundant phenolic acids in the plant kingdom, has been shown potential chemotherapeutic efficacy against microbial and cancer. However, the effects of GA on KSHV replication and KSHV-induced tumorigenesis have not yet been reported. Here, we report that GA induces apoptotic cell death in BCBL-1 cells in a dose-dependent manner. GA inhibits KSHV reactivation and reduces the production of progeny virus from KSHV-harboring cells. GA inhibits RTA transcriptional activities by suppressing its binding to target gene promoters. These results suggest that GA may represent a novel strategy for the treatment of KSHV infection and KSHV-associated lymphomas.

13.
Front Cell Infect Microbiol ; 11: 790243, 2021.
Article in English | MEDLINE | ID: mdl-35096644

ABSTRACT

Kaposi's sarcoma-associated herpesvirus (KSHV) has two life cycle modes: the latent and lytic phases. The endoplasmic reticulum (ER) is the site for KSHV production. Furthermore, ER stress can trigger reactivation of KSHV. Little is known about the nature of the ER factors that regulate KSHV replication. Atlastin proteins (ATLs which include ATL1, ATL2, and ATL3) are large dynamin-related GTPases that control the structure and the dynamics of the ER membrane. Here, we show that ATLs can regulate KSHV lytic activation and infection. Overexpression of ATLs enhances KSHV lytic activation, whereas ATLs silence inhibits it. Intriguingly, we find that silencing of ATLs impairs the response of cells to ER stress, and ER stress can promote the lytic activation of KSHV. Our study establishes that ATLs plays a critically regulatory role in KSHV infection, thus expanding the known scope of biological processes controlled by ATLs to include KSHV infection.


Subject(s)
Herpesviridae Infections , Herpesvirus 8, Human , Endoplasmic Reticulum , Gene Expression Regulation, Viral , Herpesvirus 8, Human/genetics , Humans , Virus Activation/physiology , Virus Replication/physiology
14.
PhytoKeys ; 186: 111-120, 2021.
Article in English | MEDLINE | ID: mdl-35002359

ABSTRACT

Dipterisshenzhenensis, a new species of ferns from Shenzhen, Guangdong, southern China, is identified and described. It closely resembles D.chinensis but possesses several unique traits, such as long rhizome scales, castaneous stipe, and abaxially pale fronds with two fan-shaped fronds connected by a broad wing. Molecular evidence showed that D.shenzhenensis is allied to D.conjugata, whereas it has morphologically significant differences (P < 0.05) on the basis of quantitative trait statistical analysis. Overall, the morphological evidence, taken together with the result of cpDNA indicated that D.shenzhenensis is a distinct species.

15.
World J Clin Cases ; 8(21): 5446-5456, 2020 Nov 06.
Article in English | MEDLINE | ID: mdl-33269283

ABSTRACT

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a treatable autosomal recessive inherited metabolic disorder. It results from a deficiency of sterol 27-hydroxylase (CYP27A1), which is a mitochondrial cytochrome P450 enzyme that catalyzes the hydroxylation of cholesterol and modulates cholesterol homeostasis. Patients with CYP27A1 deficiency show symptoms related to excessive accumulation of cholesterol and cholestanol in lipophilic tissues such as the brain, eyes, tendons, and vessels, resulting in juvenile cataracts, tendon xanthoma, chronic diarrhea, cognitive impairment, ataxia, spastic paraplegia, and peripheral neuropathy. CTX is underdiagnosed as knowledge of the disorder is mainly based on case reports. CASE SUMMARY: A Chinese family with CTX consisting of one patient and four heterozygous carriers was studied. The patient is a 47-year-old male, who mainly had psychiatric signs but without some cardinal features of CTX such as cataracts, cerebellar ataxia, pyramidal signs and chronic diarrhea. There was a significant increase in the concentration of free fatty acid compared to normal range. Doppler ultrasound of the urinary system showed multiple left kidney stones, a right kidney cyst, and a hypoechoic area in the bladder, which could move with body position. Sagittal and axial magnetic resonance imaging (MRI) of the right ankle joint showed apparent enlargement of the right Achilles tendon and upper medial malleolus flexor tendon, abnormal thickening of the plantar fat, and a small amount of exudation around the fascia in front of the Achilles tendon. Cerebral MRI suggested white matter (WM) demyelination and slight cerebral atrophy. The diagnosis was confirmed by targeted sequencing, which identified compound heterozygous mutations in exon 2 and intron 7 of the CYP27A1 gene (c.435G>T, c.1263+1G>A). Treatment for 3 wk with a combination of lipid-lowering and antipsychotic therapy improved his psychiatric symptoms and normalized the levels of serum free fatty acid. Sediments in the bladder disappeared after therapy. CONCLUSION: CYP27A1 genetic analysis should be the definitive method for CTX diagnosis. This case suggests that urinary system diseases may be neglected in CTX patients. The clinical, biological, radiological, and genetic characteristics of CTX are summarized to promote early diagnosis and treatment of this disease.

16.
World J Surg Oncol ; 18(1): 232, 2020 Aug 31.
Article in English | MEDLINE | ID: mdl-32862826

ABSTRACT

BACKGROUND: Neoadjuvant therapy can shrink tumors, increase anus preservation rate, and protect anal function. Radical surgery need cut off the diseased bowel, clean up the lymph nodes, and then restore bowel function. It could bring traumatic effect and poor postoperative quality of life to the patient. Local resection requires removal of the diseased bowel with circular negative margin. The surgical trauma is small, and the postoperative quality of life is good. In this meta-analysis, we aimed to evaluate the efficacy and safety between wait and see strategy (WS), radical surgery (RS), and local excision (LE) of rectal cancer patients with clinical complete response (cCR) response after neoadjuvant chemoradiotherapy. METHODS: We searched PubMed, Cochrane Library, CNKI (China National Knowledge Infrastructure), and Wanfang databases to compare wait and see strategy with radical surgery and local excision for rectal cancer with cCR response after neoadjuvant chemoradiotherapy up to March 2020. We collected the data of local recurrence, distant metastasis, cancer-related death, overall survival, and disease-free survival and used RevMan 5.0 to carry out the meta-analysis. Continuous data were evaluated by the standardized mean differences (SMD) with 95% confidence intervals (95% CIs), and dichotomous data were evaluated by relative risks (ORs or RRs) with 95% CIs. We aimed to compare the advantages and disadvantages of the three groups. RESULTS: Eleven English studies with 1131 patients were included. There were 412 patients in WS group, 678 patients in RS group, and 41 patients in LE group. WS group had a higher local recurrence rate than RS group (OR 7.32, 95% CI 3.58 to 14.95, P < 0.001). There was no significant difference in the other data between the three groups. CONCLUSION: Compared with the RS group, the WS group had an increased risk of local recurrence. However, the WS group had a similar DFS and OS compared with the RS group and the local excision group. Hence, we speculated that the WS group would have similar results as the surgery group for patients with cCR status.


Subject(s)
Neoadjuvant Therapy , Rectal Neoplasms , Chemoradiotherapy , China , Humans , Neoplasm Recurrence, Local/therapy , Prognosis , Quality of Life , Rectal Neoplasms/therapy , Treatment Outcome , Watchful Waiting
17.
Mov Disord ; 35(8): 1428-1437, 2020 08.
Article in English | MEDLINE | ID: mdl-32392383

ABSTRACT

BACKGROUND: Paroxysmal kinesigenic dyskinesia is a spectrum of involuntary dyskinetic disorders with high clinical and genetic heterogeneity. Mutations in proline-rich transmembrane protein 2 have been identified as the major pathogenic factor. OBJECTIVES: We analyzed 600 paroxysmal kinesigenic dyskinesia patients nationwide who were identified by the China Paroxysmal Dyskinesia Collaborative Group to summarize the clinical phenotypes and genetic features of paroxysmal kinesigenic dyskinesia in China and to provide new thoughts on diagnosis and therapy. METHODS: The China Paroxysmal Dyskinesia Collaborative Group was composed of departments of neurology from 22 hospitals. Clinical manifestations and proline-rich transmembrane protein 2 screening results were recorded using unified paroxysmal kinesigenic dyskinesia registration forms. Genotype-phenotype correlation analyses were conducted in patients with and without proline-rich transmembrane protein 2 mutations. High-knee exercises were applied in partial patients as a new diagnostic test to induce attacks. RESULTS: Kinesigenic triggers, male predilection, dystonic attacks, aura, complicated forms of paroxysmal kinesigenic dyskinesia, clustering in patients with family history, and dramatic responses to antiepileptic treatment were the prominent features in this multicenter study. Clinical analysis showed that proline-rich transmembrane protein 2 mutation carriers were prone to present at a younger age and have longer attack duration, bilateral limb involvement, choreic attacks, a complicated form of paroxysmal kinesigenic dyskinesia, family history, and more forms of dyskinesia. The new high-knee-exercise test efficiently induced attacks and could assist in diagnosis. CONCLUSIONS: We propose recommendations regarding diagnostic criteria for paroxysmal kinesigenic dyskinesia based on this large clinical study of paroxysmal kinesigenic dyskinesia. The findings offered some new insights into the diagnosis and treatment of paroxysmal kinesigenic dyskinesia and might help in building standardized paroxysmal kinesigenic dyskinesia clinical evaluations and therapies. © 2020 International Parkinson and Movement Disorder Society.


Subject(s)
Dystonia , China , Dystonia/genetics , Humans , Male , Mutation/genetics , Nerve Tissue Proteins/genetics , Phenotype
18.
CNS Neurosci Ther ; 26(8): 837-841, 2020 08.
Article in English | MEDLINE | ID: mdl-32196977

ABSTRACT

INTRODUCTION: Essential tremor (ET) is one of the most prevalent movement disorders. The genetic etiology of ET has not been well defined although a significant proportion (≥50%) are familial cases. Linkage analysis and genome-wide association studies (GWASs) have identified several risk variants. In recent years, whole-exome sequencing of ET has revealed several specific causal variants in FUS (p.Q290X), HTRA2 (p.G399S), and TENM4 (c.4324 G>A, c.4100C>A, and c.3412G>A) genes. OBJECTIVE: To investigate the genetic contribution of these three genes to ET, the protein-coding sequences of FUS, HTRA2, and TENM4 were analyzed in a total of 238 ET patients and 272 controls from eastern China using direct Sanger sequencing. RESULTS: We identified two synonymous coding single nucleotide polymorphisms (SNPs), rs741810 and rs1052352 in FUS, and three previously reported synonymous SNPs, rs11237621, rs689369, and rs2277277 in TENM4. No nonsynonymous exonic variants were identified in these subjects. We found that the frequency of the rs1052352C allele was significantly higher (P = .001) in the ET group than in the control group. CONCLUSION: Overall, our findings suggest that rs1052352 of FUS might contribute to ET risk in Chinese population.


Subject(s)
Asian People/genetics , Essential Tremor/genetics , Genetic Testing/methods , High-Temperature Requirement A Serine Peptidase 2/genetics , Membrane Glycoproteins/genetics , RNA-Binding Protein FUS/genetics , Adolescent , Adult , Aged , Child , Essential Tremor/diagnosis , Essential Tremor/epidemiology , Female , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide/genetics , Young Adult
19.
Nat Commun ; 11(1): 265, 2020 01 14.
Article in English | MEDLINE | ID: mdl-31937783

ABSTRACT

Glucose electrolysis offers a prospect of value-added glucaric acid synthesis and energy-saving hydrogen production from the biomass-based platform molecules. Here we report that nanostructured NiFe oxide (NiFeOx) and nitride (NiFeNx) catalysts, synthesized from NiFe layered double hydroxide nanosheet arrays on three-dimensional Ni foams, demonstrate a high activity and selectivity towards anodic glucose oxidation. The electrolytic cell assembled with these two catalysts can deliver 100 mA cm-2 at 1.39 V. A faradaic efficiency of 87% and glucaric acid yield of 83% are obtained from the glucose electrolysis, which takes place via a guluronic acid pathway evidenced by in-situ infrared spectroscopy. A rigorous process model combined with a techno-economic analysis shows that the electrochemical reduction of glucose produces glucaric acid at a 54% lower cost than the current chemical approach. This work suggests that glucose electrolysis is an energy-saving and cost-effective approach for H2 production and biomass valorization.


Subject(s)
Glucaric Acid/analysis , Glucose/chemistry , Hydrogen/analysis , Biomass , Catalysis , Chlorides/chemistry , Conservation of Energy Resources , Electrodes , Electrolysis , Ferric Compounds/chemistry , Glucaric Acid/chemistry , Hydrogen/chemistry , Hydroxides/chemistry , Nanostructures/chemistry , Nickel/chemistry , Oxidation-Reduction , Urea/chemistry
20.
Surg Laparosc Endosc Percutan Tech ; 29(6): 417-425, 2019 Dec.
Article in English | MEDLINE | ID: mdl-31592881

ABSTRACT

BACKGROUND: Single-incision laparoscopic right hemicolectomy (SILS) has been promoted in clinic since 2008, but a systematic review of comparing SILS and traditional laparoscopic right hemicolectomy (TLS) with long-term follow-up is rare. Here, in this study, comparison of SILS and TLS with long-term follow-up was evaluated by a meta-analysis method. METHODS: All studies about SILS and TLS for right hemicolectomy from 2010 to 2018 were searched from databases including Medline, Embase, Cochrane Library, and Wanfang. Operation index, recovery, and midterm follow-up data were evaluated by fixed-effects models, random-effects models, and Begg test. RESULTS: We collected 22 studies with 2218 patients. SILS groups contained 1038 (46.7%) patients, and 1180 (53.3%) patients were observed in the TLS group. Patients' baseline data were similar in the 2 groups. Compared with TLS, SILS had shorter operation duration [standardized mean difference (SMD): -0.35, 95% confidence interval (CI): -0.61 to -0.08, P<0.001, χ=49.40], shorter hospitalization time (SMD: -0.27, 95% CI: -0.37 to -0.16, P<0.001, χ=9.17), slightly less blood loss (SMD: -0.23, 95% CI: -0.36 to -0.10; P<0.001; χ=5.36), and smaller incision length (SMD: -2.19, 95% CI: -3.66 to -0.71, P<0.001; χ=316.1). No statistical differences were observed in other figures. CONCLUSION: SILS is more convenient and has better efficacy than TLS and could provide a promising surgical approach for right colon diseases.


Subject(s)
Colectomy/methods , Colon/surgery , Colonic Diseases/surgery , Laparoscopy/methods , Humans
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