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Open Journal of Psychiatry 2024年第4期14卷 319-333页

作者： golder N. Wilson Vijay S. Tonk Department of Pediatrics Texas Tech University Health Sciences Center Lubbock TX USA kinder Genome Genetics Private Practice Dallas TX USA Medical Genetics and the Cytogenomic Laboratory Department of Pediatrics Texas Tech University Health Sciences Center Lubbock TX USA

Introduction: Anxiety disorders have a lifetime prevalence of 34% with a similar level of heritability (31%) yet lack objective markers that could differentiate patients with underlying conditions. Up to 60%-70% of patients with Ehlers-Danlos syndrome have anxiety that meets criteria of generalized anxiety disorder, their clinical-DNA findings worth examining as biomarkers for patients with generalized anxiety. Method: Of the 1899 patients diagnosed with Ehlers-Danlos syndrome, 1261 were systematically evaluated for 80 history and 40 physical findings and separated into 826 who reported anxiety and 435 who did not. The most consistently reported or management-directing 60 of these clinical findings were, along with variations in genes relevant to these disorders, examined for association with anxiety. Results: Among the 30 anxiety- associated findings judged most predictive of Ehlers-Danlos syndrome in patients with anxiety were expected ones of adrenergic stimulation (difficulty concentrating-87% frequency and 1.26 anxiety/no anxiety ratio;chronic fatigue-84%, 1.17;sleep issues 69%, 1.52 that are criteria for generalized anxiety disorder) or of cholinergic suppression (e.g., frequent nausea 64%, 1.26). Less associated but more discriminating for underlying disease were those reflective of neuromuscular impact (e.g., chronic daily headaches 76%, 1.12);hypermobility (e.g., awareness of flexibility 72%, 1.03), or skin changes (e.g., elasticity around jaw 71%, 1.06). Anxiety-associated DNA variants included 54 of 88 in collagen type I/V/VII/IX genes, 14 of 16 in sodium channel SCN9A/10A/ 11A genes, 59 of 85 in POLG/MT-DNA genes, and 21 of 28 in profilaggrin- FLG genes that respectively impacted tissue laxity, sensory neural, autonomic-mitochondrial, and autonomic-inflammatory functions. Conclusion: Analysis of pathogenetic mechanisms in Ehlers-Danlos syndrome selected some 50 clinical-DNA findings useful for its diagnosis in those with generalized anxiety disorders.

关键词： Anxiety Generalized Anxiety Disorder Ehlers-Danlos Syndrome Long COVID19 Joint Hypermobility Dysautonomia DNA Testing Whole Exome Sequencing DNA Variant Qualification

Abnormal colonic cholinergic and nitrergic activities in relation to elastosis in uncomplicated diverticular disease

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World Journal of Gastroenterology 2010年第36期16卷 4625-4626页

作者： Ma.k.golder Center for Academic Surgery Institute of Cell and Molecular ScienceBarts and the London School of Medicine and DentistryQueen Mary UniversityLondon E11BBUnited Kingdom

I read with interest the review on the pathogenesis of diverticular disease by Commane et al in World J Gastroenterol 2009;15(20):***,I would like to discuss several important errors that the authors made whilst citin... 详细信息

关键词： Diverticular disease Neural Acetylcholine Nitric oxide Elastin Protein gene product

Ciprofloxacin degradation in photo-Fenton and photo-catalytic processes: Degradation mechanisms and iron chelation

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Journal of Environmental Sciences 2019年第6期31卷 82-92页

作者： Ardhendu Sekhar Giri Animes kumar golder Department of Chemical Engineering Indian Institute of Science Education and Research Bhopal Department of Chemical Engineering Indian Institute of Technology Guwahati

Ciprofloxacin(CIP)is a broad spectrum synthetic antibiotic drug of fluoroquinolones *** can act as a bidentate ligand forming iron complexes during its degradation in the photoFenton process(PFP).This work investigates on PFP for the degradation of CIP to understand the formation mechanism and stability of iron complexes under ultraviolet(UV)-light illumination.A comparison was made with the UV-photocatalysis(UV/TiO_2)process where CIP doesn't form a *** PFP,the optimal dose of Fe^(2+)and H_2O_2were found to be 1.25 and10 mmol/L with pH of *** optimal TiO_2dose of 1.25 g/L was determined in the UV/TiO_*** CIP removal and mineralization efficiency of 93.1%and 47.3%were obtained in PFP against 69.7%and 27.6%in the UV/TiO_*** mass spectra could identify seventeen intermediate products including iron-CIP complexes in PFP,and only seven intermediate products were found in the UV/TiO_2process with a majority of common products in both the *** proposed mechanism supported by the mass spectra bridged the routes of CIP cleavage in the PFP and UV/TiO_2process,and the decomposition pathway of Fe^(3+)-CIP chelate complexes in PFP was also *** in PFP and UV/TiO_2processes,the target site of HO~·radical attack was the secondary-N atom present in the piperazine ring of the CIP *** death of Escherichia coli bacteria was 55.7%and 66.8%in comparison to the control media after 45 min of treatment in PFP and UV/TiO_2process,respectively.

关键词： Advanced oxidation processes Antibiotic decomposition Iron chelation Antimicrobial activity

Fabrication of cost effective iron ore slime ceramic membrane for the recovery of organic solvent used in coke production

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International Journal of Coal Science & Technology 2016年第2期3卷 226-234页

作者： V. Singh N. k. Meena A. k. golder C. Das Department of Chemical Engineering Indian Institute ofTechnology Guwahati Guwahati Assam 781039 India

Improvement of coking properties of sub-bituminous coal (A) and bituminous coal (B) was done using blended organic solvents, namely, n-methyl-2-pyrrolidinone (NMP) and ethylenediamine (EDA). Various solvent blends were employed for the coal extraction under the total reflux condition. A low-cost ceramic membrane was fabricated using industrial waste iron ore slime of M/s TATA steel R&D, Jamshedpur (India) to separate out the dissolved coking fraction from the solvent-coal mixture. Membrane separations were carried out in a batch cell, and around 75 % recovered NMP was reused. The fractionated coal properties were determined using proximate and ultimate analyses. In the case of bituminous coal, the ash and sulfur contents were decreased by 99.3 % and 79.2 %, respectively, whereas, the carbon content was increased by 23.9 % in the separated coal fraction. Three different cleaning agents, namely deionized water, sodium dodecyl sulphate and NMP were used to regain the original membrane permeability for the reusing.

关键词：有机溶剂回收铁矿石低成本焦炭生产制备 N-甲基吡咯烷酮十二烷基硫酸钠泥膜

Demon Genes May Deform Common Syndromes: Collagen VI Gene Change in Down Syndrome Unifies the Medical and Molecular Approach to Hypermobility Disorders

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Journal of Biosciences and Medicines 2022年第3期10卷 1-7页

作者： golder N. Wilson Vijay S. Tonk Department of Pediatrics Texas Tech University Health Science Center Lubbock and KinderGenome Medical Genetics Dallas TX USA Departments of Pediatrics Obstetrics & Gynecology and Pathology Texas Tech University Health Science Center Lubbock TX USA

Purpose: To alert the medical community that whole exome sequencing can find accessory gene changes in well-known syndromes that alter preventive health care and management. Meaning: A collagen type VI gene change adds muscle weakness, hypermobility, and dysautonomia concerns to usual management considerations for Down syndrome. Methods: Commercial whole exome sequencing combined with clinical interpretation of DNA sequence change added new considerations to patient management and parental counsel. Results: An 11-year-old child with the trisomy 21 form of Down syndrome who was evaluated for extraordinary joint laxity had a heterozygous collagen type VI aspartic to glutamic acid (COL6A3 c.6360 C>G ***2120Glu) gene change found by whole exome sequencing. The DNA variant was qualified as having strong relevance to the enhanced hypermobility due to prior association of collagen 6 gene changes with myopathy. Conclusions: Dual diagnosis of Ehlers-Danlos syndrome was not assigned because the patient lacked criteria like bruising, unusual scars, or selected dysautonomia symptoms. The concept of a hypermobility spectrum offers advantages for management of its constituent conditions if clinically guided ascertainment and DNA diagnostics are employed.

关键词： Hypermobility Spectrum Disorders Down Syndrome Ehlers-Danlos Syndrome DNA Variant Qualification Collagen Type VI DNA Change

A time fractional model to represent rainfall process

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Water Science and Engineering 2014年第1期7卷 32-40页

作者： Jacques golder Maminirina JOELSON Marie-Christine NEEL Liliana DI PIETRO Department of Physics University of Avignon Mediterranean Environment and Agro-Hydro System Modelisation Laboratory French National Institute for Agricultural Research

This paper deals with a stochastic representation of the rainfall process. The analysis of a rainfall time series shows that cumulative representation of a rainfall time series can be modeled as a non-Gaussian random walk with a log-normal jump distribution and a time-waiting distribution following a tempered a-stable probability law. Based on the random walk model, a fractional Fokker-Planck equation （FFPE） with tempered a-stable waiting times was obtained. Through the comparison of observed data and simulated results from the random walk model and FFPE model with tempered a-stable waiting times, it can be concluded that the behavior of the rainfall process is globally reproduced, and the FFPE model with tempered a-stable waiting times is more efficient in reproducing the observed behavior.

关键词： rainfall process heavy-tailed probability distribution tempered a-stable probability law log-normal law Hurst exponent continuous time random walk model fractional Fokker-Planck equation

Demographic determinants of risk,colon distribution and density scores of diverticular disease

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World Journal of Gastroenterology 2011年第8期17卷 1009-1017页

作者： Ma.k.golder Irina Chis Ster Pratusha Babu Amita Sharma Muhammad Bayat Abdulkadir Farah Centre for Academic Surgery Institute of Cell and Molecular Science Barts and the London School of Medi-cine and Dentistry Queen Mary University MRC centre for Paediatric Epidemiology and Biostatistics University College Department of Radiology University Hospital Lewisham

AIM:To investigate associations between ethnicity,age and sex and the risk,colon distribution and density scores of diverticular disease(DD).METHODS:Barium enemas were examined in 1000 patients:410 male,590 female;760 whites,62 Asians,44 black africans(BAs),and 134 other blacks(OBs).Risks and diverticula density of left-sided DD(LSDD) and rightsided-component DD(RSCDD = right-sided DD + right and left DD + Pan-DD) were compared using logistic ***:Four hundred and forty-seven patients had DD(322 LSDD and 125 RSCDD).Adjusted risks:(1) LSDD:each year increase in age increased the odds by 6%(95% CI:5-8,SE:0.8%,P kely than males to have RSCDD;BAs were 3.51 times(95% CI:1.70-7.24,SE:1.30,P kely than Whites to have RSCDD;and(3) DD density scores:each year increase in age increased the odds of highdensity scores by 4%(95% CI:1-6,SE:1%,P kely to be of high density than *** further signif icant differences were found in the adjusted ***:Right colonic DD might be more common and has higher diverticula density in the west than previously *** appear predisposed to DD,whereas other ethnic differences appear conserved following migration.

关键词：高密度风险分数结肠 logistic回归人口种族差异 BAS

Genomic Analysis of 727 Patients with Ehlers-Danlos Syndrome I: Clinical Perspective Relates 23 Genes to a Maternally Influenced Arthritis-Adrenaline Disorder

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Journal of Biosciences and Medicines 2019年第12期7卷 181-204页

作者： golder N. Wilson Texas Tech University Health Science Center Lubbock and Kinder Genome Genetics Private Practice Dallas TX USA

A novel medical approach for qualifying DNA variants found by whole exome sequencing (WES) facilitates discovery of new gene-disease relationships and emphasizes that DNA change must be correlated with clinical findings before having utility for diagnosis. Delineation of an arthritis-adrenaline disorder (AAD) process qualified variants in 23 genes as diagnostically useful in 727 patients having WES among 1656 with Ehlers-Danlos syndrome (EDS);these results distinguished them from 102 patients who had qualified gene variants among 728 with developmental disability. Excess maternal transmission of AAD by pedigree analysis plus 167 maternally versus 111 paternally transmitted DNA variants and 75 patients with only mitochondrial DNA variants suggest maternal influence on inheritance of AAD and its subsumed EDS types. Genes grouped by impact on different connective tissue elements showed variation in similar numbers of patients with hypermobile or classical EDS, benign joint hypermobility, or predominant dysautonomia: COL7A1, FLG acting on skin in 21 patients;SCN9A/10A/11A, POLG on nerve in 24;COL6A1/A2/A3, COL12 on muscle in 19;COL5A1/A2, FBN1, TGFB2/3, TGFBR1/2 on tissue matrix in 51;COL3A1, VWF on vessel in 18;COL1A1/A2, COL11A1/A2 acting on bone in 15 patients. Each gene group acts through a postulated articulo-autonomic dysplasia cycle to produce reciprocal tissue laxity and dysautonomia findings that transcend EDS types. This same tissue laxity-dysautonomia cycle acts to produce secondary complications in disorders ranging from distinctive connective tissue dysplasias to developmental disorders with hypotonia and acquired conditions with autonomic imbalance. Several altered genes were previously associated with neuromuscular disorders, foreshadowing a large myopathic EDS category that will incorporate many patients with hypermobility. The importance of muscle for joint constraint supports present exercise and future mesenchymal stem cell therapies, whether AAD is g

关键词： Ehlers-Danlos Syndrome Connective Tissue Dysplasia Arthritis-Adrenaline Disorder Articulo-Autonomic Dysplasia Whole Exome Sequencing Collagen Genes

Clinical Analysis Supports Articulo-Autonomic Dysplasia as a Unifying Pathogenic Mechanism in Ehlers-Danlos Syndrome and Related Conditions

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Journal of Biosciences and Medicines 2019年第6期7卷 149-168页

作者： golder N. Wilson Texas Tech University Health Science Center Lubbock and KinderGenome Medical Genetics Private Practice Dallas TX USA

Findings in 1656 patients referred for evaluation of Ehlers-Danlos syndrome, 710 evaluated systematically using novel history and physical forms, defined a characteristic clinical pattern termed arthritis-adrenaline disorder, a genus that provides immediate therapy while delineation of particular tissue laxity/dysautonomia species is underway. Preliminary diagnoses, clinical findings, and laboratory results were entered into an MS Excel? database with IRB approval and correlations or statistical significance analyzed using Excel? functions. Frequencies of 80 findings by history and 40 on physical were similar among EDS groups, females paralleling males with more total history (35 versus 23) and physical (18 versus 15) findings. Finding frequencies in joint-skeletal (6.2 of 15) and dysautonomia (11 of 20) subcategories were substantial regardless of age, EDS diagnosis, or referral source, the latter was shown by 6.4 and 13 average findings for cardiology, 5.3 and 8.3 for orthopedic referrals. Early affliction evidenced by history findings averaging 19.5 in those under 12 increased dramatically to 25 for teens and 32 for adults with plateauing at older ages arguing against degenerative disease. Frequent neuromuscular symptoms in females emphasize surrounding muscle support and protection of joint-connective tissue as a key factor in decreased male severity. The congruent clinical profile suggests operation of an articulo-autonomic dysplasia cycle where lax vessels and lower body pooling elicit sympathetic response, autonomic imbalance in turn affecting small nerve fibers and enhancing connective tissue laxity. Recognition of this arthritis-adrenalin disorder can guide management strategies while underlying causes are pursued, among them, physical therapy, exercise, and vitamin D to build muscle/bone strength;lower gluten/dairy and antihistamine protocols for low bowel motility/mast-cell activation;hydration, salt, and exercise for postural orthostatic tachycardia synd

关键词： Ehlers-Danlos Syndrome Arthritis-Adrenaline Disorder Connective Tissue Dysplasia Hypermobility Dysautonomia Joint Laxity Skin Elasticity IBS POTS MCAD