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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

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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

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Applications of phototheranostic nanoagents in photodynamic therapy

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Nano Research 2015年第5期8卷 1373-1394页

作者： Jayeeta Bhaumik Amit Kumar Mittal Avik Banedee Yusuf Chisti Uttam Chand Banerjee Department of Pharmaceutical Technology (Biotechnology) National Institute of Pharmaceutical Education and Research Sector 67 S.A.S. Nagar 160062 India Department of radiology Dayanand Medical College and Hospital Ludhiana 141001 India School of Engineering Massey University Private Bag 11 222 Palmerston North New Zealand

Nanotherapeutics 在象癌症那样的疾病的治疗有一个增加的角色。在光力学的治疗(太平洋夏季时间) ，治疗学地不活跃的 photosensitizer 混合物被光有选择地激活生产能够杀死 diseased 房间和病原体的分子。一个 phototheranostic 代理... 详细信息

Nanotherapeutics 在象癌症那样的疾病的治疗有一个增加的角色。在光力学的治疗(太平洋夏季时间) ，治疗学地不活跃的 photosensitizer 混合物被光有选择地激活生产能够杀死 diseased 房间和病原体的分子。一个 phototheranostic 代理人能为指向的交货，光成像和疾病的光力学的治疗与能力被定义为单个 nanoentity。恶意的房间，纸巾和微生物引起的 etiologic 代理人能被太平洋夏季时间有效地指向。光力学的治疗是 noninvasive，或最低限度地侵略，并且当健康织物的损坏被最小化，杀死的效果是局部性的，有很少副作用。癌症，粉刺和另外的疾病的各种各样的形式可以被对待。在里面 photosensitizers 的 vivo 功效被把他们纳入能够指向 diseased 地点的 nanostructures 进一步改进。如此的 photosensitizer-functionalized nanostructures，或 nanotherapeutics，为改进 phototheranostic 性能允许成像和治疗学的代理人的地点特定的交货。这评论在诊断和治疗探索 phototheranostic nanostructures 的潜在的应用。

关键词：光动力疗法应用纳米结构光动力学治疗光学成像治疗剂位点特异性光敏剂

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Long-term follow-up after complete ablation of Barrett's esophagus with argon plasma coagulation

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World Journal of Gastroenterology 2005年第8期11卷 1182-1186页

作者： Ahmed Madisch Stephan Miehike Ekkehard Bayerdoerffer Birgit Wiedemann David Antos Anke Sievert Michael Vieth Manfred Stolte Heinrich Schulz Medical Department Ⅰ Department of Hematology and Oncology Institute of Medical Statistics and Biometry Clinic for Pediatric Diseases Gastroenterologist in private practice Institute of Pathology

AIM: To report the long-term outcome of patients after complete ablation of non-neoplastic Barrett's esophagus (BE) with respect to BE relapse and development of intraepithelial neoplasia or esophageal ***: In 70 patients with histologically proven nonneoplastic BE, complete BE ablation was achieved by argon plasma coagulation (APC) and high-dose proton pump inhibitor therapy (120 mg omeprazole daily). Sixty-six patients (94.4%) underwent further surveillance endoscopy. At each surveillance endoscopy four-quadrant biopsies were taken from the neo-squamous epithelium at 2 cm intervals depending on the pre-treatment length of BE mucosa beginning at the neo-Z-line, and from any endoscopically suspicious ***: The median follow-up of 66 patients was 51 mo (range 9-85 mo) giving a total of 280.5 patient years.A mean of 6 biopsies were taken during surveillance endoscopies. In 13 patients (19.7%) tongues or islands suspicious for BE were found during endoscopy. In 8 of these patients (12.1%) non-neoplastic BE relapse was confirmed histologically giving a histological relapse rate of 3% per year. In none of the patients, intraepithelial neoplasia nor an esophageal adenocarcinoma was *** regression analysis identified endoscopic detection of islands or tongues as the only positive predictor of BE relapse (P = 0.0004).CONCLUSION: The long-term relapse rate of nonneoplastic BE following complete ablation with high-power APC is low (3% per year).

关键词：氩离子凝固巴雷特食管治疗方法食管癌治疗剂量

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Clinical practice guideline for body composition assessment based on upper abdominal magnetic resonance images annotated using artificial intelligence

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Chinese Medical Journal 2022年第6期135卷 631-633页

作者： Han Lv Mengyi Li Zhenchang Wang Dawei Yang Hui Xu Juan Li Yang Liu Di Cao Yawen Liu Xinru Wu He Jin Peng Zhang Liqin Zhao Rixing Bai Yunlong Yue Bin Li Nengwei Zhang Mingzhu Zou Jinghai Song Weibin Yu Pin Zhang Weijun Tang Qiyuan Yao Liheng Liu Hui Yang Zhenghan Yang Zhongtao Zhang National Clinical Research Center for Digestive Diseases in Beijing Friendship Hospital,Capital Medical University Beijing Quality Control and Improvement Center of Medical Imaging National Health Commission Capacity Building and Continuing Education Center,Chinese College of Metabolic and Bariatric Surgeons Beijing Quality Control and Improvement Center of Metabolic and Bariatric Surgery Department of radiology Beijing Friendship HospitalCapital Medical UniversityBeijing 100050China Department of General Surgery Beijing Friendship HospitalCapital Medical University&National Clinical Research Center for Digestive DiseasesBeijing 100050China School of Biological Science and Medical Engineering Beihang UniversityBeijing 100191China Department of radiology Beijing Tiantan HospitalCapital Medical UniversityBeijing 100070China Department of General Surgery Beijing Tiantan HospitalCapital Medical UniversityBeijing 100070China Department of MR Beijing Shijitan HospitalCapital Medical University/Peking UniversityNinth Clinical Medical CollegeBeijing 100038China Department of General Surgery Beijing Shijitan HospitalCapital Medical University/Peking UniversityNinth Clinical Medical CollegeBeijing 100038China Department of radiology Beijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China Department of General Surgery Beijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China Department of radiology Shanghai Jiao Tong University Affiliated Sixth People's HospitalShanghai 200233China Department of Bariatric and Metabolic Surgery Shanghai Jiao Tong University Affiliated Sixth People's HospitalShanghai 200233China Department of radiology Huashan HospitalFudan UniversityShanghai 200040China Center for Obesity and Metabolic Surgery Huashan HospitalFudan UniversityShanghai 200040China Department of radiology Zhongshan HospitalFudan UniversityShanghai 200032China Department of radiology The Second Affiliated Hospital of Shandong First Medical UniversityTai'anShandong 271000China 不详

Introduction Upper abdominal magnetic resonance(MR)imaging is appropriate for body composition analysis.111 Especially for individuals with obesity,it is of great value to quantify the hepatic proton density fat fraction(PDFF)and the amount of abdominal adipose tissue during clinical evaluation and for research on obesity-related *** results may be used to determine the optimal choice of surgical procedure and evaluate treatment *** artificial intelligence(Al)algorithms and systems have been developed for the automated measurement of body *** basis of Al development and application is to have uniform standards for clinical data acquisition and *** uneven quality ofMR images is one ofthe major obstacles to Al system development and analytical results.A standardized process of MR scanning and clinical data management is urgently needed.

关键词： abdominal obesity artificial

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一名无精症和开咬合畸形男性体内的额外标记染色体15

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Asian Journal of Andrology 2009年第5期11卷 617-622,I0004页

作者： Altug Koc[土耳其] Odul Onur[意大利] Mehmet Ali Ergun[意大利] E. Ferda Pergin[意大利] Department of Medical Genetics Gazi University Faculy of Medicine Ankara 06500 Turkey private practice Tunali Hilmi Cad. 70/18 06680 Kavaklidere Ankara 06680 Turkey

Supernumerary marker chromosome 15 （sSMC[15]） is the most frequent marker chromosome, and it is generally regarded as unimportant if it does not contain the Prader-Willi/Angelman syndrome critical region （PWACR）. The clinical importance of the larger markers in association with the critical region is mentioned in almost all reports related to marker chromosome 15, and smaller markers are solely associated with minor dysmorphic features, azoospermia and recurrent miscarriages. However, these small sSMC（15）s without the PWACR may also determine a specific phenotype. A dysmorphic examination of an azoospermic patient in a genetics clinic was performed and was followed by a peripheral blood lymphocyte chromosomal analysis according to standard cytogenetic methods. Nucleolar region （NOR） banding, C-banding, fluorescence in situ hybridization and a molecular investigation of Y-microdeletions were also performed. The clinical evaluation identified dysmorphic features accompanied with azoospermia and severe ‘Angle Class Ⅱ, Division 1 Open Bite Deformity＇. The molecular cytogenetic study revealed the small sSMC（15）. In addition, a Y-microdeletion analysis showed that the azoospermia was not the result of a deletion. Although the presented case might represent a coincidental example of supernumerary marker 15 and mandibular anomaly association, the condition may also define a specific phenotype that may be more than azoospermia. This condition may be characterized by infertility, malar hypoplasia, mandibular anomaly, keloid formation and minor dysmorphic features.

关键词： auriculocondylar syndrome azoosperrnia infertility isodicentric 15q open bite deformity small supemumerary marker chromosome 15

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Glycemic and cardiovascular parameters improved in type 2 diabetes with the high nutrient density (HND) diet

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Open Journal of Preventive Medicine 2012年第3期2卷 364-371页

作者： D. M. Dunaief J. Fuhrman J. L. Dunaief G. Ying Center for Preventive Ophthalmology and Biostatistics Perelman School of Medicine University of Pennsylvania Philadelphia PA USA F.M.Kirby Center for Molecular Ophthalmology University of Pennsylvania Philadelphia PA USA private practice Flemington NJ USA private practice Medical Compass MD East Setauket NY USA

Objective: The purpose of this study was to provide an initial assessment of the effectiveness of the high nutrient density (HND) diet on glycemic control and cardiovascular risk factors in participants with type 2 diabetes. Design: This was a retrospective case series study. Participants were 13 adult type 2 diabetic U.S. women and men between the ages of 30 - 80 years old. Glycosylated hemoglobin (HbA1C), lipid profile, blood pressure, BMI, and medication requirements before and after commencement of the HND diet were compared. Results: After a median length on the HND diet of 7 months, the mean HbA1C dropped from 8.2% to 5.8% (p = 0.002), with sixty-two percent of participants reaching normoglycemic levels (HbA1C p = 0.0004 for systolic blood pressure, p = 0.01 for diastolic blood pressure). Triglycerides significantly decreased from a mean of 171 mg/dl to a mean of 103 mg/dl (p = 0.02). The HDL increased significantly from 48.3 mg/dl to 54.6 mg/dl (p = 0.03). The mean number of medications dropped from 4 to 1 (p = 0.0006). Conclusions: The HND diet was very effective in controlling glycemic levels and cardiovascular risk factors in 13 participants with type 2 diabetes. Therefore, there is a well-justified need for further study with the HND diet.

关键词： Type 2 Diabetes Mellitus Lipids Hypertension Nutrition Cardiovascular Disease Lifestyle Medicine HbA1C BMI

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Virtual endoscopy of the urinary tract

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Asian Journal of Andrology 2006年第1期8卷 31-38页

作者： George C.Kagadis Dimitrios Siablis Evangelos N.Liatsikos Theodore Petsas George C. Nikiforidis Department of Medical Physics Department of radiology Department of Urology School of MedicineUniversity of PatrasGR 26500 RionGreece Department of radiology Department of Medical Physics

Technological breakthroughs have advanced the temporal and spatial resolutions of diagnostic imaging, and 3 dimensional （3-D） reconstruction techniques have been introduced into everyday clinical practice. Virtual endoscopy （VE） is a non-invasive technique that amplifies the perception of cross-sectional images in the 3-D space, providing precise spatial relationships of pathological regions and their surrounding structures. A variety of computer algorithms can be used to generate 3-D images, taking advantage of the information inherent in either spiral computed tomography or magnetic resonance imaging （MRI）. VE images enable endoluminal navigation through hollow organs, thus simulating conventional endoscopy. Several clinical studies have validated the diagnostic utility of virtual cystoscopy, which has high sensitivity and specificity rates in the detection of bladder tumor. Published experience in the virtual exploration of the renal pelvis, ureter and urethra is encouraging but still scarce. VE is a safe, non-invasive method that could be applied in the long-term follow-up of patients with ureteropelvic junction obstruction, urinary bladder tumors and ureteral and/or urethral strictures. Its principal limitations are the inability to provide biopsy tissue specimens for histopathologic examination and the associated ionizing radiation hazards （unless MR/is used）. However, in the case of endoluminal stenosis or obstruction, VE permits virtual endoluminal navigation both cephalad and caudal to the stenotic segment. To conclude, VE provides a less invasive method of evaluating the urinary tract, especially for clinicians who are less familiar with cross-sectional imaging than radiologists. （Asian J Androl 2006 Jan; 8： 31-38）

关键词： computed tomography three-dimensional imaging virtual endoscopy urethral stricture

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Preparation,characterization and biological properties of a novel bone block composed of platelet rich fibrin and a deproteinized bovine bone mineral

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Fundamental Research 2022年第2期2卷 321-328页

作者： Mengge Feng Yulan Wang Yan Wei Xiaoxin Zhang Leyi Xiao Zijjian Gong Masako Fujioka-Kobayashi Anton Sculean Richard J Miron Scott Froum Yufeng Zhang The State Key Laboratory Breeding Base of Basic Science of Stomatology(Hubei MOST)&Key Laboratory of Oral Biomedicine Ministry of Education School&Hospital of StomatologyWuhan University Department of Oral and Mxillfacial Surgery The Nippon Dental University School of Life Dentistry at TokyoTokyoJapan Department of Periodontology University of BernBernSwitzerland Clinical Assistant Professor State University of New York Story Brook Department of PeriodontologyPrivate Practice New YorkNew YorkUSA Medical Research Institute School of MedicineWuhan UniversityWuhan 430071China

Alveolar bone defects caused by tooth loss often lead to challenges in implant dentistry,with a need for development of optimal bone biomaterials to predictably rebuild these *** address this problem,we fabricated a novel bone block using platelet-rich fibrin(PRF)and Deproteinized Bovine Bone Mineral(DBBM),and characterized their mechanical and biological *** bone block was prepared by mixing DBBM,Liquid-PRF,and Solid-PRF fragments in various combinations as follows:(1)BLOCK-1 made with Solid-PRF fragments+DBBM,(2)BLOCK-2 made with Liquid-PRF+DBBM,(3)BLOCK-3 made with Solid-PRF fragments+Liquid-PRF+*** time for solidification and the degradation properties were subsequently *** electron microscopy(SEM)and tensile tests were carried out to investigate the microstructure and mechanical properties of each *** bioactivity of the three groups towards osteoblast differentiation was also evaluated by culturing cells with the conditioned medium from each of the three groups including cell proliferation assay,cell migration assay,alkaline phosphatase(ALP)staining,and alizarin red staining(ARS),as well as by real-time PCR for genes encoding runt-related transcription factor 2(RUNX2),ALP,collagen type I alphal(COLIv41)and osteocalcin(OCN).BLOCK-3 made with Solid-PRF fragments+Liquid-PRF+DBBM had by far the fastest solidification period(over a 10-fold increase)as well as the most resistance to *** and tensile tests also revealed that the mechanical properties of BLOCK-3 were superior in strength when compared to all other groups and further induced the highest osteoblast migration and osteogenic differentiation confirmed by ALP,ARS and real-time *** bone blocks made through the combination of Solid-PRF fragments+Liquid-PRF+DBBM had the greatest mechanical and biological properties when compared to either used *** clinical studies are warranted to further support the clinical application of PRF bone blocks in bo

关键词： Blood Platelet-rich fibrin Bone formation Dental implant Regeneration

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The Analysis of an HIV and AIDS Empowering Group Work Programme for Adolescents: A Quantitative Evaluation

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World Journal of AIDS 2013年第1期3卷 57-65页

作者： K. Olivier H. Strydom Potchefstroom Campus of the North-West University Po- tchefstroom South Africa. Social Worker in private practice Leeudoringstad South Africa

In this article an HIV and AIDS group work programme empowering adolescents to deal with the possible death of their parents/caregivers will be evaluated in a quantitative fashion. The data were obtained by means of the Child Functioning Inventory High School (CFI-HIGH) developed by Perspective Training College and the Generalized Contentment Scale (GCS) of Hudson (Bloom et al., 1999: 220). The guidelines for selection and inclusion of respondents in the comparison and experimental groups will be discussed, followed by information on the measuring instruments. The article will conclude with conclusions and recommendations.

关键词： Evaluation HIV and AIDS Empowering Group Work Programme Adolescents

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