Chaodong Wang's research while affiliated with Centro de Pesquisa em Medicina Tropical (CEPEM) and other places

Publications (58)

Article
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Background Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by predominant impairment of upper and lower motor neurons. Over 50 TARDBP mutations have been reported in both familial (FALS) and sporadic ALS (SALS). Some mutations in TARDBP , e.g. A382T and G294V, have genetic founder effects in certain geog...
Article
Full-text available
Background The comprehensive geriatric assessment (CGA) has been proposed as a supplementary tool to reduce perioperative complications of geriatric patients, however there is no universally accepted standardization of CGA for orthopedic surgery. In this study, a novel CGA strategy was applied to evaluate the conditions of older patients undergoing...
Article
Full-text available
Objectives The study aimed to investigate the incidence and risk factors of acute kidney injury (AKI) in elderly patients (aged ≥ 75 years) undergoing major nonvascular abdominal surgery. Methods The study was a retrospective study that evaluated the incidence of AKI in patients within 48 h after major abdominal surgeries. Patients' preoperative c...
Article
Background The diagnosis of cerebral thrombosis origin is challenging and remains unclear. This study aims to identify thrombosis due to cardioembolism (CE) and large artery atherosclerosis (LAA) from a new perspective of distinct metabolites. Methods Distinct metabolites between 26 CE and 22 LAA origin thrombi, which were extracted after successf...
Article
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Objectives To develop and validate a predictive nomogram for idiopathic rapid eye movement (REM) sleep behavior disorder (RBD) in a community population in Beijing, China.Methods Based on the validated RBD questionnaire-Hong Kong (RBDQ-HK), we identified 78 individuals with possible RBD (pRBD) in 1,030 community residents from two communities in Be...
Article
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Objectives To expand the genotypes and phenotypes of sodium voltage-gated channel alpha subunit 1 (SCN1A)-related epilepsy. Methods We retrospectively collected the clinical and genetic information of 22 epilepsy patients (10 males, 12 females; mean: 9.2 ± 3.9 years; 3.9–20.3 years) carrying 22 variants of SCN1A. SCN1A mutations were identified by...
Article
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Detection of oligomeric α-synuclein (o-α-Syn) in red blood cells (RBCs) has been shown to be promising in diagnosing Parkinson’s disease and other synucleinopathies. However, if RBC o-α-Syn derive from plasma and can reflect changes of plasma o-α-Syn remains unclear. In this study, synthetic o-α-Syn was intravenously injected into mice and dynamic...
Article
Self-assembled amino acid derivatives could form well-defined nanostructures which have great application value for drug delivery systems. In particular, D-amino acid derivatives possess tremendous advantages including anti-degradation and good lysosome escape compared with L-amino acid derivatives. In this work, 9-fluorenylmethyloxycarbonyl (Fmoc)...
Article
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Background: Hereditary orotic aciduria (HOA) is a rare genetic disorder of pyrimidine metabolism caused by variations in the uridine monophosphate synthetase (UMPS) gene and inheritance are autosomal recessive. Heterozygous UMPS mutations can also lead to orotic aciduria without clinical consequence. Methods: We conducted molecular genetic analy...
Preprint
Background: The effectiveness of comprehensive geriatric assessment (CGA) has been confirmed to reduce perioperative complications of geriatric patients. But there is no universally accepted standardization of CGA for orthopedic surgery. In this study, a novel CGA strategy was applied to evaluate the conditions of elderly patients undergoing orthop...
Preprint
Background: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by predominant impairment of upper and lower motor neurons. Over 50 TARDBP mutations have been reported in both familial (FALS) and sporadic ALS (SALS). Some mutations in TARDBP, e.g. A382T and G294V, have genetic founder effects in certain geog...
Article
Background and purpose Radiotherapy is a standard treatment for head and neck tumors that significantly increases patients’ long-term survival rates. However, late cerebrovascular complications, especially carotid artery stenosis (CAS), have gained increasing attention. Investigation of biomarkers of radiation-induced CAS may help to elucidate the...
Article
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Background Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with neuronal cell inclusions composed of neurofilaments and other abnormal aggregative proteins as pathological hallmarks. Approximately 90% of patients have sporadic cases (sALS), and at least 4 genes, i.e. C9orf72 , SOD1 , FUS and TARDBP , have been identif...
Article
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Serine 129-phosphorylated alpha-synuclein (pS-α-syn) is a major form of α-syn relevant to the pathogenesis of Parkinson's disease (PD), which has been recently detected in red blood cells (RBCs). However, alterations of RBC-derived pS-α-syn (pS-α-syn-RBC) in different subtypes and stages of PD remains to be investigated. In the present study, by us...
Article
Hartnup disease cases were rare, and the genotype–phenotype correlation was not fully understood. Here we reported two unrelated young men diagnosed as Hartnup disease, who carried novel compound heterozygote mutations in the SLC6A19 gene and presented with new phenotypes. Other than intermittent encephalopathy and photosensitive rashes, they displ...
Article
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Background Behavioral variant frontotemporal dementia (bvFTD) is a clinically heterogeneous syndrome with high heredity. However, the frequencies of mutations associated with bvFTD have yet to be determined. The aim of the current study was to investigate the frequency of Chinese Han patients harboring genetic bvFTD variants. Methods A total of 49...
Article
Spastic paraplegias (SPGs) are a group of clinically and genetically heterogeneous neurodegenerative diseases. Mutations in 78 genes have been identified in autosomal dominant hereditary SPG (AD-HSP) and autosomal recessive hereditary SPG (AR-HSP). Compared to familial HSP, much less is known about the genetic and clinical profiles of sporadic SPGs...
Article
Background Mutations in the F-box protein 7 (FBXO7) gene is one of the genetic causes of early-onset Parkinson’s disease which usually presents as autosomal recessive early-onset parkinsonian-pyramidal syndrome (PPS). Herein, we report a Chinese PPS family with a novel FBXO7 homozygous mutation. Methods Clinical data of the proband and his affecte...
Article
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Background/purpose: Sporadic early-onset Alzheimer disease (sEOAD) and its visual variant, posterior cortical atrophy (PCA), have a disease onset at less than 65 years of age with no familial aggregation. The etiology and genetic basis of these diseases remain poorly understood. Our study aimed to identify additional mutations or variants associat...
Article
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Amyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disease involving the upper and lower motor neurons of the spinal cord, brainstem, and cerebral cortex. At least 30 genes have been implicated in familial ALS (fALS) and sporadic ALS (sALS). Kaneb et al. (2015) first carried out a large-scale sequencing study in ALS patien...
Article
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Background For elderly patients who are about to undergo surgery, research on the effects of preoperative medication on postoperative outcomes is rare, especially preoperative discontinuation-requiring medication (PDRM) which needed to be discontinued because of its increased risk of postoperative complications.AimTo investigate whether preoperativ...
Article
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary disease characterized by cerebellar ataxia, pyramidal signs in lower limbs, and sensorimotor neuropathy. The disease is caused by bi-allelic mutations of the SACS gene encoding the sacsin protein. Over 200 mutations have been reported worldwide. Here, we report...
Article
Objectives Two configurations of TTTTA/TTTCA expansion inSAMD12 have been identified in familial cortical myoclonic tremor with epilepsy type 1 (FCMTE1). This study investigated the clinical and neurophysiological features of FCMTE1 and their association with TTTTA/TTTCA expansion patterns. Methods In total, 76 patients from 20 Chinese pedigrees w...
Article
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Background With the extended life expectancy of the Chinese population and improvements in surgery and anesthesia techniques, the number of aged patients undergoing surgery has been increasing annually. However, safety, effectiveness, and quality of life of aged patients undergoing surgery are facing major challenges. In order to standardize the pe...
Article
A sensitive, high-throughput method was established for the simultaneous determination of 12 antiepileptics in serum by ultra high performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). The antiepileptics were gabapentin, lamotrigine, pregabalin, lacosamide, levetiracetam, topiramate, oxcarbazepine, clonazepam, sodium valproate, c...
Article
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Diagnosis of multiple system atrophy (MSA) remains a challenge, due to the complexity and overlapping of its symptoms with other Parkinsonian disorders. The critical role of alpha-synuclein (α-syn) in the pathogenesis of MSA makes it an ideal biomarker for the diagnosis of MSA. Although α-syn alterations in cerebrospinal fluid (CSF) and blood plasm...
Article
Background: Heterozygous mutations in the glucocerebrosidase gene (GBA) have been shown to be an important genetic risk factor for Parkinson's disease (PD) worldwide. However, the penetrance of GBA heterozygote for L444P, the common mutation for Asian population, is not known in older Chinese people. Objectives: To assess the conversion rate to PD...
Article
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Objective: The importance of late-onset cobalamin C (cblC) disorder is underestimated in adults. Improved awareness on its clinical and neuroimaging features helps timely diagnosis and appropriate treatment. Methods: Totally 16 late-onset cblC cases were diagnosed based on clinical, biochemical findings and MMAHC gene mutation analysis. Clinical...
Article
Introduction: Mitochondrial DNA polymerase gamma (pol γ) encoded by POLG plays an indispensable role in the process of mitochondrial DNA replication and repair. The mutation of POLG can result in mitochondrial dysfunction leading to a broad spectrum of disease. Methods: We report a 29-year-old Chinese female presented with levodopa-responsive parki...
Article
Context: Syphilitic meningomyelitis is a rare manifestation of neurosyphilis, not well described in the literature. Methods: We reported a rare case of a 29-year-old female with syphilitic meningomyelitis. Her clinical manifestations and imaging findings were discussed with the related literatures reviewed. Results: The patient presented with progr...
Article
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Over 90% of cases are sporadic (sALS) and 5%–10% are familial (fALS). So far, more than 20 genes/loci have been linked to ALS. C9orf72, SOD1, TARDBP, and FUS are noted as the most common ALS genes; however, mutations of these genes explain <10% of sALS cases. Recently, Rho gu...
Article
For early-onset Alzheimer's disease (EOAD) cases with unclear family history, most cases are sporadic. Some cases are positive in genetic findings, that is, either incomplete penetrance or de novo mutation. We aimed to focus on EOAD cases with de novo mutations. Case reports and literature review were performed. The implication for diagnostic appro...
Article
Introduction: Prediction of depression in patients with Parkinson's disease (PD) remains challenging. We investigated whether the common susceptible genetic variants for PD are associated with the risk and improves prediction of development of depression in PD (dPD). Methods: 1134 individuals with a primary diagnosis of PD were recruited. Demogr...
Data
Testing for marginal effect of each genetic variant on UPDRS total (I+II+III). (XLSX)
Data
Testing for non-parametric analysis of genetic-clinical correlation. (XLSX)
Data
Testing for marginal effect of each genetic variant on UPDRS III. (XLSX)
Article
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Many genetic variants have been linked to familial or sporadic Parkinson’s disease (PD), among which those identified in PARK16, BST1, SNCA, LRRK2, GBA and MAPT genes have been demonstrated to be the most common risk factors worldwide. Moreover, complex gene-gene and gene-environment interactions have been highlighted in PD pathogenesis. Compared t...
Data
Testing for marginal effect of each genetic variant on H-Y. (XLSX)
Article
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It remains a challenge to differentiate human induced pluripotent stem cells (iPSCs) or embryonic stem (ES) cells to Purkinje cells. In this study, we derived iPSCs from human fibroblasts and directed the specification of iPSCs first to Purkinje progenitors, by adding Fgf2 and insulin to the embryoid bodies (EBs) in a time-sensitive manner, which a...
Article
CAG expansion within the exon 1 of ataxin-2 (ATXN2) gene responsible for spinocerebellar ataxia-2 (SCA2) has been reported to cause pure parkinsonism and other neurodegenerative disorders. However, it remains unclear whether CAG expansion is the only cause for SCA2 and its clinical alternatives, and whether extra mutations exist to modify the pheno...
Article
Non-motor symptoms (NMS) are common among patients with Parkinson's disease (PD). However, reports on NMS in Chinese PD population are scarce. Little is known about NMS in patients with Asian specific leucine-rich repeat kinase 2 (LRRK2) variants in G2385R and R1628P. This study aimed to elucidate the clinical characteristics of NMS in Chinese PD p...
Article
Non-motor symptoms (NMS) are important preclinical features of Parkinson's disease (PD) and have become the leading cause of poor quality of life with disease progression. There are little data on how antiparkinsonian medications influence the NMS in PD at early stage. In this study, we explored the distribution of NMS in treated and untreated PD a...
Article
Variants of the MAPT gene have been suggested to be associated with Parkinson's disease (PD) and to modify the risk for leucine-rich repeat kinase 2 (LRRK2) Parkinsonism. However, this has not been confirmed in Asians with ethnicity-specific variants of MAPT and LRRK2. In this study, Asian-specific LRRK2 p.G2385R variant and IVS1+124 C>G, a functio...
Article
Clinical profiles of Parkinson's disease (PD) related to LRRK2 (LRRK2-PD), and GBA (GBA-PD) genes have not been reported in Chinese individuals. In this study, we have investigated motor and non-motor aspects in 1638 Chinese PD patients who carried LRRK2 G2385R or R1628P (LRRK2-PD, n = 223), GBA L444P variant (GBA-PD, n = 49), or none of the varian...
Article
Genome-wide association and large-scale replication studies have linked Parkinson's disease (PD) to a locus on 4p15 encompassing a single gene encoding bone marrow stromal cell antigen 1 (BST1). To screen for causative mutations of BST1 in PD, we have directly sequenced all the 9 exons of BST1 in a Chinese cohort consisting of 524 PD cases and 527...
Article
To investigate whether AQP4 autoantibodies (AQP4-Ab) are causative for neuromyelitis optica (NMO), the production of AQP4-Ab and clinical experimental autoimmune encephalomyelitis (EAE) was investigated in mice administered with mouse AQP4 antigen or myelin oligodendrocyte glycoprotein (MOG35-55) alone, and in combination. Eight- to twelve-week-old...
Article
Functional changes in basal ganglia circuitry are responsible for the major clinical features of Parkinson's disease (PD). Current models of basal ganglia circuitry can only partially explain the cardinal symptoms in PD. We used functional MRI to investigate the causal connectivity of basal ganglia networks from the substantia nigra pars compacta (...
Article
Variants in the LRRK2 gene are well-characterized genetic predisposing factors for PD worldwide, and LRRK2-associated PD is often indistinguishable from idiopathic PD (IPD). However, considerable heterogeneity of LRRK2-PD suggests the existence of additional genetic and/or environmental modifiers for LRRK2 carriers, which have yet to be confirmed b...
Article
Full-text available
Abnormalities of α‐synuclein (α‐syn) and NMDA receptors (NMDARs) are implicated in the pathogenesis of Parkinson’s disease. However, how these proteins interact with each other has not been elucidated. Here, the effect of α‐syn on NMDARs was investigated by examining the alterations of surface NMDAR NR1 subunits in MES23.5 dopaminergic cells transf...
Article
A total of 66 samples (from 27 cases with neuromyelitis optica, 26 cases with multiple sclerosis, and 13 cases with optic neuritis) were tested for aquaporin-4 antibody by a cell-based immunofluores-cence assay and an enzyme-linked immunosorbent assay. The sensitivities and specificities of the two assays were similar. We further analyzed an additi...
Article
Parkinson's disease (PD) is a complex neurodegenerative disorder. Although the p.G2385R allele of leucine-rich repeat kinase 2 (LRRK2) has been recently reported as a common genetic variant that increases the risk for typical PD exclusively among Asian population, its genetic modifiers is yet to be studied. Brain-derived neurotrophic factor (BDNF)...
Article
Full-text available
J. Neurochem. (2011) 119, 815–825. Abnormalities of α-synuclein (α-syn) and NMDA receptors (NMDARs) are implicated in the pathogenesis of Parkinson’s disease. However, how these proteins interact with each other has not been elucidated. Here, the effect of α-syn on NMDARs was investigated by examining the alterations of surface NMDAR NR1 subunits i...
Article
Mutations in the parkin gene have been identified as one of the important genetic factors for the etiology of PD. However, pathogenicities of parkin mutations, especially of those heterozygotes, remain controversial, possibly due to confusions caused by the "mixed" effects of all types of mutations. Here we report a study on the independent effects...
Article
Cysteamine is a degradation product of the amino acid cysteine and a reduced form of cystamine. Cysteamine exhibits strong antioxidant activity and has been implicated in the treatment of neurodegenerative disorders such as Huntington's disease. In the present study, we investigated whether cysteamine confers protection against 1-methyl-4-phenyl-1,...

Citations

... Notably, erythrocytic Pser129 α-synuclein levels are significantly increased in PD patients than in healthy controls. These Elevated levels of Pser129 α-synuclein have been found to be positively correlated with disease duration, Hoehn & Yahr stage (H&Y), and UPDRS III score [128]. Additionally, patients with PD also have higher plasma levels of oligomeric αsynuclein and a panel of posttranslational modified forms of α-synuclein [129]. ...
... Once validated, it would be interesting to know if the protective effects of the NEFH TTTA variant could reduce the influence of pathogenic variants such as C9orf72, and this should be considered in future studies. Similarly, the DNA samples were not screened for previously reported NEFH exonic variants, considered to be a rare cause of sALS, occurring in ~ 1% of sporadic cases [21][22][23][24][25][26][27] . Secondly, end-point survival data was only available for the smaller Duke sALS cohort. ...
... 83 In addition, phenotypes presenting with intermittent dystonia and hereditary spastic paraplegia have been described. 84,85 Other movement disorders related to pigmentary changes Incontinentio pigmenti is a rare X-linked dominant neurocutaneous disorder caused by NEMO gene variants, affecting ectodermal tissues-the skin, skin adnexes, eyes, central nervous system and teeth. 86 Pigmentary skin changes are very typical (Fig. 2D) and commonly occur with a distribution on Blaschko lines, which present lines of normal cell development in the skin. ...
... Genomic DNA was extracted from fresh peripheral blood leukocytes, and whole-exome sequencing (WES) libraries were generated using the Agilent SureSelect Human All Exon V6 Kit (Agilent Technologies, Santa Clara, CA, USA). The detailed procedure has been described in our previous study [27]. ...
... Recently, many methods based on LC-MS/MS have been developed for the simultaneous determination of ASMs. Actually, more than 20 LC-MS/MS-based assays have been reported for the concentration measurement of ASMs, but most methods can only measure several up to 10 or so drugs simultaneously (Dai et al., 2020;Davis et al., 2020;Karinen et al., 2015;Kim et al., 2011;Shibata et al., 2012;Yin et al., 2016). The low analytical performance, high time-consumption, complex sample clean-up methods and large sample volume limit the daily clinical application of the developed methods to a certain extent. ...
... As it is easier to find causative mutations in FALS, whole-exome sequencing (WES) was performed in all the 16 FALS cases whose DNA samples were available. The WES was performed as the methods described previously [33]. Briefly, whole blood-derived DNA was captured to generate a sequencing library using the Agilent SureSelect Human All Exon V6 Kit (Agilent Technologies, Santa Clara, CA). ...
... We summarized the clinical and genetic features of our case and the reported Chinese patients ( Table 1) (2)(3)(4)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17). The majority of the families were from Southeastern China (Figure 3). ...
... -Nucleotide repeat expansions: increment of the number of adjacent repetitions of a determined nucleotide (e.g., triplets) in a given DNA region, leading to different functional results depending on the number of repetitions and other factors. These variants are related to particular syndromes, such as familial cortical myoclonus (12) or Fragile X syndromes (13) and cannot be detected with conventional methods such as gene-panel sequencing or microarrays (14). ...
... More than 10,000 people in the United States turn 65 every day, and the percentage of this population is growing faster than ever before. 1 These older adults account for 40% of all inpatient operations, 2,3 with more than 1 in 7 Medicare beneficiaries undergoing a major operation each year. 4 Older adults are more likely than their younger counterparts to suffer from chronic comorbidities and functional limitations, 5,6 which can lead to the need for operations that are considered to be of higher risk. 7,8 As patients age, the rate of major postoperative complications increases, with this rate being 3 times as high for patients >80 years old when compared to those from 50 to 59 years old. ...
... p < 0.001). Consistent with this result, dead patients had a higher preoperative risk score than alive patients at 30 days [36 (28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42)(43)(44)(45)(46)(47) vs. 18 (14)(15)(16)(17)(18)(19)(20)(21)(22), p < 0.001], 6 months [26 (18-37.5) vs. 18 (14)(15)(16)(17)(18)(19)(20)(21)(22), p < 0.001), and 1 year (25 (18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31) vs. 18 (14)(15)(16)(17)(18)(19)(20)(21)(22), p < 0.001), as shown in Fig. 1. ...