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https://www.readbyqxmd.com/read/27926491/early-pathogenic-event-of-alzheimer-s-disease-documented-in-ipscs-from-patients-with-psen1-mutations
#1
Juan Yang, Hanzhi Zhao, Yu Ma, Guilai Shi, Jian Song, Yu Tang, Song Li, Ting Li, Nan Liu, Fan Tang, Junjie Gu, Lingling Zhang, Zhuohua Zhang, Xiaohui Zhang, Ying Jin, Weidong Le
Alzheimer's disease (AD) is the most common age-related dementia characterized by progressive neuronal loss. However, the molecular mechanisms for the neuronal loss is still debated. Here, we used induced pluripotent stem cells (iPSCs) derived from somatic cells of familial AD patients carrying PSEN1 mutations to study the early pathogenic event of AD. We found that premature neuronal differentiation with decreased proliferation and increased apoptosis occured in AD-iPSC-derived neural progenitor cells (AD-NPCs) once neuronal differentiation was initiated, together with higher levels of Aβ42 and phosphorylated tau...
December 2, 2016: Oncotarget
https://www.readbyqxmd.com/read/27922168/update-of-the-swiss-guidelines-on-post-treatment-lyme-disease-syndrome
#2
Johannes Nemeth, Enos Bernasconi, Ulrich Heininger, Mohamed Abbas, David Nadal, Carol Strahm, Stefan Erb, Stefan Zimmerli, Hansjakob Furrer, Julie Delaloye, Thierry Kuntzer, Ekkehard Altpeter, Mathias Sturzenegger, Rainer Weber, For The Swiss Society For Infectious Diseases And The Swiss Society For Neurology
Lyme borreliosis is caused by Borrelia burgdorferi sensu lato infection, which responds well to antibiotic therapy in the overwhelming majority of cases. However, despite adequate antibiotic treatment some patients report persisting symptoms which are commonly summarised as post-treatment Lyme disease syndrome (PTLDS). In 2005, the Swiss Society of Infectious Diseases published a case definition for PTLDS. We aimed to review the scientific literature with a special emphasis on the last 10 years, questioning whether the definitions from 2005 are still valid in the light of current knowledge...
2016: Swiss Medical Weekly
https://www.readbyqxmd.com/read/27915472/pathomechanism-of-interstitial-cystitis-bladder-pain-syndrome-and-mapping-the-heterogeneity-of-disease
#3
REVIEW
Jia-Fong Jhang, Hann-Chorng Kuo
Interstitial cystitis/bladder pain syndrome (IC/BPS) is a heterogeneous syndrome which is usually characterized by urinary frequency, nocturia, and bladder pain. Several pathomechanisms have been proposed, including uroepithelial dysfunction, mast cell activation, neurogenic inflammation, autoimmunity, and occult urinary tract infections. It is possible that an inflammatory process alters regulation of urothelial homeostasis and results in dysfunction of the bladder epithelium. Different phenotypes of IC/BPS have been explored including Hunner and non-Hunner type IC, hypersensitive bladder, and bladder pain both with and without functional somatic syndrome...
November 2016: International Neurourology Journal
https://www.readbyqxmd.com/read/27899621/cooperative-genomic-alteration-network-reveals-molecular-classification-across-12-major-cancer-types
#4
Hongyi Zhang, Yulan Deng, Yong Zhang, Yanyan Ping, Hongying Zhao, Lin Pang, Xinxin Zhang, Li Wang, Chaohan Xu, Yun Xiao, Xia Li
The accumulation of somatic genomic alterations that enables cells to gradually acquire growth advantage contributes to tumor development. This has the important implication of the widespread existence of cooperative genomic alterations in the accumulation process. Here, we proposed a computational method HCOC that simultaneously consider genetic context and downstream functional effects on cancer hallmarks to uncover somatic cooperative events in human cancers. Applying our method to 12 TCGA cancer types, we totally identified 1199 cooperative events with high heterogeneity across human cancers, and then constructed a pan-cancer cooperative alteration network...
November 29, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27894750/risk-factors-for-autonomic-and-somatic-nerve-dysfunction-in-different-stages-of-glucose-tolerance
#5
Rumyana Dimova, Tsvetalina Tankova, Velina Guergueltcheva, Ivailo Tournev, Nevena Chakarova, Greta Grozeva, Lilia Dakovska
AIM: The present study evaluates autonomic and somatic nerve function in different stages of glucose tolerance and its correlation with different cardio-metabolic parameters. MATERIAL AND METHODS: Four hundred seventy-eight subjects, mean age 49.3±13.7years and mean BMI 31.0±6.2kg/m2, divided according to glucose tolerance: 130 with normal glucose tolerance (NGT), 227 with prediabetes (125 with impaired fasting glucose (IFG) and 102 with isolated impaired glucose tolerance (iIGT)), and 121 with newly-diagnosed T2D (NDT2D), were enrolled...
November 6, 2016: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/27894462/multiple-somatic-symptoms-in-primary-care-a-field-study-for-icd-11-phc-who-s-revised-classification-of-mental-disorders-in-primary-care-settings
#6
David P Goldberg, Geoffrey M Reed, Rebeca Robles, Julio Bobes, Celso Iglesias, Sandra Fortes, Jair de Jesus Mari, Tai-Pong Lam, Fareed Minhas, Bushra Razzaque, José Ángel Garcia, Marianne Rosendal, C Anthony Dowell, Linda Gask, Joseph K Mbatia, Shekhar Saxena
OBJECTIVE: A World Health Organization (WHO) field study conducted in five countries assessed proposals for Bodily Stress Syndrome (BSS) and Health Anxiety (HA) for the Primary Health Care Version of ICD-11. BSS requires multiple somatic symptoms not caused by known physical pathology and associated with distress or dysfunction. HA involves persistent, intrusive fears of having an illness or intense preoccupation with and misinterpretation of bodily sensations. This study examined how the proposed descriptions for BSS and HA corresponded to what was observed by working primary care physicians (PCPs) in participating countries, and the relationship of BSS and HA to depressive and anxiety disorders and to disability...
December 2016: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/27893148/osteopathic-manipulative-treatment-for-somatic-dysfunction-after-acute-severe-traumatic-brain-injury
#7
Adrienne McCallister, Christopher Brown, Michael Smith, Hugh Ettlinger, Gerard A Baltazar
Somatic dysfunction caused by traumatic brain injury (TBI) may be managed by osteopathic manipulative treatment (OMT). In this case report, the authors describe 2 patients with severe TBI who were each treated with OMT in a level-1 regional trauma center. Both patients received OMT beginning in the acute care phase of injury. Somatic dysfunction improved during the course of treatment, and no adverse effects of OMT were noted. More comprehensive research may clarify the efficacy and adverse effects of OMT as part of multimodal acute care of patients with severe TBI...
December 1, 2016: Journal of the American Osteopathic Association
https://www.readbyqxmd.com/read/27892789/4-vinylcyclohexene-diepoxide-disrupts-sperm-characteristics-endocrine-balance-and-redox-status-in-testes-and-epididymis-of-rats
#8
Isaac A Adedara, Amos O Abolaji, Emmanuel O Ladipo, Ore J Fatunmibi, Ayodeji O Abajingin, Ebenezer O Farombi
OBJECTIVES: Exposure to 4-vinylcyclohexene diepoxide (VCD) was reported to induce testicular germ cell toxicity in rodents. However, there is paucity of information on the precise biochemical and molecular mechanisms of VCD-induced male reproductive toxicity. METHODOLOGY: This study investigated the influence of VCD on testicular and epidydimal functions following oral exposure of Wistar rats to VCD at 0, 100, 250 and 500 mg/kg for 28 consecutive days. RESULTS: Administration of VCD significantly decreased the body weight gain and organo-somatic indices of the testes and epididymis...
November 28, 2016: Redox Report: Communications in Free Radical Research
https://www.readbyqxmd.com/read/27891760/muscle-ras-oncogene-homolog-mras-recurrent-mutation-in-borrmann-type-iv-gastric-cancer
#9
Makiko Yasumoto, Etsuko Sakamoto, Sachiko Ogasawara, Taro Isobe, Junya Kizaki, Akiko Sumi, Hironori Kusano, Jun Akiba, Takuji Torimura, Yoshito Akagi, Hiraku Itadani, Tsutomu Kobayashi, Shinichi Hasako, Masafumi Kumazaki, Shinji Mizuarai, Shinji Oie, Hirohisa Yano
The prognosis of patients with Borrmann type IV gastric cancer (Type IV) is extremely poor. Thus, there is an urgent need to elucidate the molecular mechanisms underlying the oncogenesis of Type IV and to identify new therapeutic targets. Although previous studies using whole-exome and whole-genome sequencing have elucidated genomic alterations in gastric cancer, none has focused on comprehensive genetic analysis of Type IV. To discover cancer-relevant genes in Type IV, we performed whole-exome sequencing and genome-wide copy number analysis on 13 patients with Type IV...
November 28, 2016: Cancer Medicine
https://www.readbyqxmd.com/read/27869444/-brca1-and-brca2-pathologists-starting-kit
#10
Petr Škapa
Dysfunction of tumor suppressor genes BRCA1 and BRCA2 is involved in the pathogenesis of malignant tumors, especially breast and ovarian carcinoma. BRCA1/2 genes may be inactivated by germinal and somatic mutations or epigenetic changes. Germinal mutations are responsible for the hereditary breast and ovarian carcinoma syndrome. Defects of BRCA1/2 genes lead to the failure of homologous recombination, the basic mechanism for DNA double strand break repair. The resultant genomic instability is associated with a high risk of malignant transformation of the cell, but it also results in a higher sensitivity of tumors to platinum-based chemotherapeutic compounds which damage DNA structure directly...
2016: Ceskoslovenská Patologie
https://www.readbyqxmd.com/read/27865628/the-genesis-and-presentation-of-anxiety-in-disorders-of-autonomic-overexcitation
#11
Andrew P Owens, David A Low, Valeria Iodice, Hugo D Critchley, Christopher J Mathias
INTRODUCTION: We investigated the genesis and presentation of previously-reported anxiety in disorders of autonomic overexcitation in relation to interoception, body vigilance and trauma to test our hypothesis that patients with the postural tachycardia syndrome (PoTS), vasovagal syncope (VVS) and essential hyperhidrosis (EH) represent atypical anxiety phenotypes in whom affective symptoms are more related to apprehension and vigilance of physiological (interoceptive) feedback than neurotic or trauma-related factors...
October 19, 2016: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/27856431/endoplasmic-reticulum-proteostasis-a-key-checkpoint-in-cancer
#12
Scott A Oakes
The unfolded protein response (UPR) is an intracellular signaling network largely controlled by three endoplasmic reticulum (ER) transmembrane proteins-IRE1, PERK, and ATF6-that monitors the protein folding status of the ER and initiates corrective measures to maintain ER homeostasis. Hypoxia, nutrient deprivation, proteasome dysfunction, sustained demands on the secretory pathway or somatic mutations in its client proteins--conditions often encountered by cancer cells-can lead to the accumulation of misfolded proteins in the ER and cause "ER stress...
November 16, 2016: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/27834406/-complaints-of-pain-in-the-orofacial-area-of-non-odontogenic-origin
#13
B Stegenga
Complaints of pain in the orofacial area usually are odontogenic in origin or have to do with temporomandibular dysfunction. Dentists can, nevertheless, be confronted with a number of disorders that are non-odontogenic in nature. In such instances it is not always a matter of nociceptive pain, associated with somatic damage, but the pain can also be the result of nerve damage (neuropathic pain) or of changes that may occur within the central nervous system (central sensitisation). In most of these cases, the pain is chronic in nature...
November 2016: Nederlands Tijdschrift Voor Tandheelkunde
https://www.readbyqxmd.com/read/27814571/telomere-protein-complexes-and-their-role-in-lymphoid-malignancies
#14
Julieta Panero, Patricia Dos Santos, Irma Slavutsky
Telomeres are highly regulated and dynamic complexes that protect the genomic DNA and prevent the end of linear chromosomes from being misrecognized as a broken DNA. Due to the end replication problem, telomeres of somatic cells shorten with each cell division, inducing cell senescence. Telomerase is a reverse transcriptase capable of compensating telomere attrition by adding telomere repeats to the ends of chromosomes. Human telomeres are associated with the shelterin complex which consists of six telomere-associated proteins that specifically bind to telomeric DNA...
January 1, 2017: Frontiers in Bioscience (Scholar Edition)
https://www.readbyqxmd.com/read/27812868/detection-of-dysfunctional-telomeres-in-oncogene-induced-senescence
#15
Priyanka L Patel, Utz Herbig
Expressing oncogenes in normal somatic human cells leads to cellular senescence after just a few cell division cycles. In cells that are more resistant to culture stresses, such as human dermal fibroblasts, this oncogene-induced senescence (OIS) is a result of a DNA damage response (DDR) that is activated due to the formation of DNA lesions at both non-telomeric and telomeric DNA sequences. DNA lesions can be visualized as DDR foci by immunofluorescence microscopy using antibodies against a number of DDR factors, including ϒ-H2AX and 53BP1...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27802556/effect-of-osteopathic-cranial-manipulative-medicine-on-visual-function
#16
Mark E Sandhouse, Diana Shechtman, Gregory Fecho, Elena M Timoshkin
CONTEXT: The effects of osteopathic cranial manipulative medicine (OCMM) on visual function have been poorly characterized in the literature. Based on a pilot study conducted by their research group, the authors conducted a study that examined whether OCMM produced a measurable change in visual function in adults with cranial asymmetry. STUDY DESIGN: Randomized, controlled, double-blinded clinical trial. The intervention and control (sham therapy) were applied during 8 weekly visits, and participants in both groups received 8 weekly follow-up visits...
November 1, 2016: Journal of the American Osteopathic Association
https://www.readbyqxmd.com/read/27792795/assessment-of-pain-drawings-and-self-reported-comorbid-pains-as-part-of-the-biopsychosocial-profiling-of-temporomandibular-disorder-pain-patients
#17
Tuija I Suvinen, Pentti Kemppainen, Yrsa Le Bell, Tommi Kauko, Heli Forssell
AIMS: To assess drawings of pain sites and self-reported comorbid pains as a part of the biopsychosocial profiling of tertiary care referral patients with temporomandibular disorder (TMD) pain. METHODS: A total of 135 consecutive patients referred to tertiary care for TMD pain participated. Patients drew all the sites where they had pain on whole-body pain drawings. Other assessments included self-reported comorbid pains in the head and body regions, the Finnish Research Diagnostic Criteria for TMD (RDC/TMD_FIN Axis II), and additional biopsychosocial and treatment-related variables...
October 2016: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/27774607/erythrocytosis-in-hepatocellular-carcinoma-portends-poor-prognosis-by-respiratory-dysfunction-secondary-to-mitochondrial-dna-mutations
#18
Shizhong Ke, Shuzhen Chen, Zihui Dong, Christopher S Hong, Qi Zhang, Liang Tang, Pinghua Yang, Jian Zhai, Hexin Yan, Feng Shen, Zhengping Zhuang, Wen Wen, Hongyang Wang
: Erythrocytosis is a common paraneoplastic syndrome associated with hepatocellular carcinoma (HCC). Although increased erythropoietin (EPO) is found in these patients, the clinical significance and molecular mechanisms underlying this observation are unclear. Here we demonstrated an inverse relationship between EPO production and overall prognosis in our cohort of 664 patients as well as in data from The Cancer Genome Atlas (TCGA). In the subset of HCC patients with erythrocytosis, we identified somatic mutations of mitochondrial DNA, resulting impairment of respiratory metabolism, which sequentially led to depletion of α-ketoglutarate, stabilization of hypoxia inducible factor-α and expression of target genes such as EPO...
October 24, 2016: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/27771352/functional-alterations-of-the-dopaminergic-and-glutamatergic-systems-in-spontaneous-%C3%AE-synuclein-overexpressing-rats
#19
Ezia Guatteo, Francesca Romana Rizzo, Mauro Federici, Alberto Cordella, Ada Ledonne, Laura Latini, Annalisa Nobili, Maria Teresa Viscomi, Filippo Biamonte, Kerstin K Landrock, Alessandro Martini, Daniela Aversa, Chiara Schepisi, Marcello D'Amelio, Nicola Berretta, Nicola B Mercuri
The presence of α-synuclein (α-syn) in Lewy bodies and Lewy neurites is an important characteristic of the neurodegenerative processes of substantia nigra pars compacta (SNpc) dopaminergic (DAergic) neurons in Parkinson's disease (PD) and other synucleinopathies. Here we report that Berlin-Druckrey rats carrying a spontaneous mutation in the 3' untranslated region of α-syn mRNA (m/m rats) display a marked accumulation of α-syn in the mesencephalic area, striatum and frontal cortex, accompanied to severe dysfunctions in the dorsolateral striatum...
October 20, 2016: Experimental Neurology
https://www.readbyqxmd.com/read/27760433/chronic-prostatitis-affects-male-reproductive-health-and-is-associated-with-systemic-and-local-epigenetic-inactivation-of-c-x-c-motif-chemokine-12-receptor-c-x-c-chemokine-receptor-type-4
#20
Undraga Schagdarsurengin, Lisa M Teuchert, Christina Hagenkötter, Nils Nesheim, Temuujin Dansranjavin, Hans-Christian Schuppe, Sabrina Gies, Adrian Pilatz, Wolfgang Weidner, Florian M E Wagenlehner
: Background/Aims/Objectives: Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) has detrimental effects on the quality of life including the aspect of sexual dysfunction. The aim of the study was to identify if there was an adverse effect on the male genital compartment and if there are systemic or compartment-specific local signals for epigenetic dysregulation of inflammatory factors in CP/CPPS patients. METHODS: One hundred five NIH IIIb CP/CPPS patients and 41 healthy men were recruited and underwent investigations of urines, semen and blood...
October 20, 2016: Urologia Internationalis
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