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https://www.readbyqxmd.com/read/28645308/neonatal-aav-delivery-of-alpha-synuclein-induces-pathology-in-the-adult-mouse-brain
#1
Marion Delenclos, Ayman H Faroqi, Mei Yue, Aishe Kurti, Monica Castanedes-Casey, Linda Rousseau, Virginia Phillips, Dennis W Dickson, John D Fryer, Pamela J McLean
Abnormal accumulation of alpha-synuclein (αsyn) is a pathological hallmark of Lewy body related disorders such as Parkinson's disease and Dementia with Lewy body disease. During the past two decades, a myriad of animal models have been developed to mimic pathological features of synucleinopathies by over-expressing human αsyn. Although different strategies have been used, most models have little or no reliable and predictive phenotype. Novel animal models are a valuable tool for understanding neuronal pathology and to facilitate development of new therapeutics for these diseases...
June 23, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28644950/hematopoietic-cell-transplantation-in-fanconi-anemia-and-dyskeratosis-congenita-a-minireview
#2
REVIEW
Mouhab Ayas
Bone marrow failure syndrome is an epithet of bone marrow failure (all or single-cell lineage) that is attributable to an underlying genetic aberration usually with a constellation of somatic abnormalities. Multiple inheritance patterns have been described in these disorders; many are transmitted in an autosomal recessive pattern, which may consequently lead to a higher prevalence of such illnesses in homogeneous societies such as Saudi Arabia, where consanguineous marriages are not uncommon. At King Faisal Specialist Hospital and Research Center, the most common entity referred for allogeneic hematopoietic cell transplantation (HCT) is Fanconi anemia, followed by pure red aplasia, and, less commonly, dyskeratosis congenita, congenital neutropenia, and others...
June 15, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28644851/comorbidities-in-the-diseasome-are-more-apparent-than-real-what-bayesian-filtering-reveals-about-the-comorbidities-of-depression
#3
Peter Marx, Peter Antal, Bence Bolgar, Gyorgy Bagdy, Bill Deakin, Gabriella Juhasz
Comorbidity patterns have become a major source of information to explore shared mechanisms of pathogenesis between disorders. In hypothesis-free exploration of comorbid conditions, disease-disease networks are usually identified by pairwise methods. However, interpretation of the results is hindered by several confounders. In particular a very large number of pairwise associations can arise indirectly through other comorbidity associations and they increase exponentially with the increasing breadth of the investigated diseases...
June 23, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28643234/body-mass-disorders-in-healthy-short-children-and-in-children-with-growth-hormone-deficiency
#4
Paweł Tomaszewski, Katarzyna Milde, Anna Majcher, Beata Pyrżak, Gul Tiryaki-Sonmez, Brad J Schoenfeld
The aim of the study was to determine the degree of adiposity and the incidence of body mass disorders, including abdominal obesity, in healthy short children and children with growth hormone deficiency. The study included 134 short children (height < 10th percentile) aged 7-15. In this cohort there were 63 (31 boys and 32 girls) children without diagnosed hormonal disorders and 71 patients (35 boys and 36 girls) with growth hormone deficiency. Basic somatic features were assessed and the study participants were categorized according to the percentage of body fat (%FAT), body mass index (BMI), and waist-to-height ratio (WHtR)...
June 23, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28642594/differential-effects-on-gene-transcription-and-hematopoietic-differentiation-correlate-with-gata2-mutant-disease-phenotypes
#5
C-E Chong, P Venugopal, P H Stokes, Y K Lee, P J Brautigan, D T O Yeung, M Babic, G A Engler, S W Lane, M Klingler-Hoffmann, J M Matthews, R J D'Andrea, A L Brown, C N Hahn, H S Scott
Heterozygous GATA2 mutations underlie an array of complex hematopoietic and lymphatic diseases. Analysis of the literature reporting three recurrent GATA2 germline (g) mutations (gT354M, gR396Q, gR398W) revealed different phenotype tendencies. While all three mutants differentially predispose to myeloid malignancies, there was no difference in leukemia-free survival for GATA2 patients. Despite intense interest, the molecular pathogenesis of GATA2 mutation is poorly understood. We functionally characterized a GATA2 mutant allelic series representing major disease phenotypes caused by germline and somatic (s) mutations in zinc finger (ZF) 2...
June 23, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28638959/-psychotraumatology-differentiation-extension-and-public-discourse
#6
REVIEW
A Maercker, M Augsburger
The first description of posttraumatic stress disorder (PTSD) in the 1980s marked the origin of psychotraumatology. Based on the variety of developments in the meantime and being relevant for basic research and clinical application, a differentiation of diagnoses according to the new International Classification of Diseases (ICD-11) are presented including PTSD, complex PTSD, prolonged grief disorder and adjustment disorder. In addition, extension towards traumatic and adverse childhood experiences and their significance for lifetime mental and somatic morbidity are described...
June 21, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28638109/voxel-based-morphometric-brain-comparison-between-healthy-subjects-and-major-depressive-disorder-patients-in-japanese-with-the-s-s-genotype-of-5-httlpr
#7
Natsuki Igata, Shingo Kakeda, Keita Watanabe, Satoru Ide, Taro Kishi, Osamu Abe, Ryouhei Igata, Asuka Katsuki, Nakao Iwata, Reiji Yoshimura, Yukunori Korogi
Individuals with s/s genotype of serotonin transporter gene-linked promotor region (5-HTTLPR), which appear with a high frequency in Japanese, exhibit more diagnosable depression in relation to stressful life events than those with the s/l or l/l genotype. We prospectively investigated the brain volume changes in first-episode and medication naïve major depression disorder patients (MDD) with the s/s genotype in Japanese. We assessed the differences between 27 MDD with the s/s genotype and 44 healthy subjects (HS) with the same genotype using a whole-brain voxel-by-voxel statistical analysis of MRI...
June 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28637453/electroacupuncture-at-li11-promotes-jejunal-motility-via-the-parasympathetic-pathway
#8
Xuanming Hu, Mengqian Yuan, Yin Yin, Yidan Wang, Yuqin Li, Na Zhang, Xueyi Sun, Zhi Yu, Bin Xu
BACKGROUND: Gastrointestinal motility disorder has been demonstrated to be regulated by acupuncture treatment. The mechanisms underlying the effects of acupuncture stimulation of abdominal and lower limb acupoints on gastrointestinal motility have been thoroughly studied; however, the physiology underlying the effects of acupuncture on the forelimbs to mediate gastrointestinal motility requires further exploration. The aim of this study was to determine whether electroacupuncture (EA) at LI11 promotes jejunal motility, whether the parasympathetic pathway participates in this effect, and if so, which somatic afferent nerve fibres are involved...
June 21, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28636572/mood-symptoms-in-stabilized-patients-with-schizophrenia-a-bipolar-type-with-predominant-psychotic-features
#9
Konstantinos N Fountoulakis, Dina Popovic, Mariela Mosheva, Melina Siamouli, Katerina Moutou, Xenia Gonda
BACKGROUND: Schizophrenia (SZ) and bipolar disorder (BD) are traditionally distinguished on the basis of progressive deterioration and long-term outcome, but a more dimensional approach is warranted. There are limited data on the occurrence of manic symptoms in patients with schizophrenia. The aim of the current study was to search for patterns in the clinical symptomatology, which may suggest the presence of one or several mood disorders under the label of schizophrenia. SUBJECTS AND METHODS: Hundred-seventy-five patients diagnosed with schizophrenia according to DSM-5 were included in the study...
June 2017: Psychiatria Danubina
https://www.readbyqxmd.com/read/28635960/somatic-mutations-in-clonally-expanded-cytotoxic-t-lymphocytes-in-patients-with-newly-diagnosed-rheumatoid-arthritis
#10
P Savola, T Kelkka, H L Rajala, A Kuuliala, K Kuuliala, S Eldfors, P Ellonen, S Lagström, M Lepistö, T Hannunen, E I Andersson, R K Khajuria, T Jaatinen, R Koivuniemi, H Repo, J Saarela, K Porkka, M Leirisalo-Repo, S Mustjoki
Somatic mutations contribute to tumorigenesis. Although these mutations occur in all proliferating cells, their accumulation under non-malignant conditions, such as in autoimmune disorders, has not been investigated. Here, we show that patients with newly diagnosed rheumatoid arthritis have expanded CD8+ T-cell clones; in 20% (5/25) of patients CD8+ T cells, but not CD4+ T cells, harbour somatic mutations. In healthy controls (n=20), only one mutation is identified in the CD8+ T-cell pool. Mutations exist exclusively in the expanded CD8+ effector-memory subset, persist during follow-up, and are predicted to change protein functions...
June 21, 2017: Nature Communications
https://www.readbyqxmd.com/read/28635951/new-insights-into-the-imprinted-meg8-dmr-in-14q32-and-clinical-and-molecular-description-of-novel-patients-with-temple-syndrome
#11
Jasmin Beygo, Alma Küchler, Gabriele Gillessen-Kaesbach, Beate Albrecht, Jonas Eckle, Thomas Eggermann, Alexandra Gellhaus, Deniz Kanber, Ulrike Kordaß, Hermann-Josef Lüdecke, Sabine Purmann, Eva Rossier, Johannes van de Nes, Ilse M van der Werf, Maren Wenzel, Dagmar Wieczorek, Bernhard Horsthemke, Karin Buiting
The chromosomal region 14q32 contains several imprinted genes, which are expressed either from the paternal (DLK1 and RTL1) or the maternal (MEG3, RTL1as and MEG8) allele only. Imprinted expression of these genes is regulated by two differentially methylated regions (DMRs), the germline DLK1/MEG3 intergenic (IG)-DMR (MEG3/DLK1:IG-DMR) and the somatic MEG3-DMR (MEG3:TSS-DMR), which are methylated on the paternal and unmethylated on the maternal allele. Disruption of imprinting in the 14q32 region results in two clinically distinct imprinting disorders, Temple syndrome (TS14) and Kagami-Ogata syndrome (KOS14)...
June 21, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28635509/induced-pluripotent-stem-cell-derived-dopaminergic-neurons-from-adult-common-marmoset-fibroblasts
#12
Scott C Vermilyea, Scott Guthrie, Michael Meyer, Kim Smuga-Otto, Katarina Braun, Sara Howden, James A Thomson, Su-Chun Zhang, Marina Emborg, Dr Thaddeus G Golos
The common marmoset monkey (Callithrix jacchus; Cj) is an advantageous nonhuman primate species for modeling age-related disorders, including Parkinson's disease, due to their shorter lifespan compared to macaques. Cj-derived induced pluripotent stem cells (Cj-iPSCs) from somatic cells are needed for in vitro disease modeling and testing regenerative medicine approaches. Here we report the development of a novel Cj-iPSC line derived from adult marmoset fibroblasts. The Cj-iPSCs showed potent pluripotency properties including development of mesodermal lineages in tumors after injection to immunocompromised mice, as well as ectoderm and endoderm lineages after in vitro differentiation regimens, demonstrating differentiated derivatives of all three embryonic layers...
June 21, 2017: Stem Cells and Development
https://www.readbyqxmd.com/read/28635306/self-injurious-behaviors-in-children-with-autism-spectrum-disorder-enrolled-in-the-study-to-explore-early-development
#13
Gnakub Norbert Soke, Steven A Rosenberg, Cordelia Robinson Rosenberg, Roma A Vasa, Li-Ching Lee, Carolyn DiGuiseppi
We assessed potential factors associated with "current" or "ever" self-injurious behaviors, reported in the Autism Diagnostic Interview-Revised, among children with autism spectrum disorder (n = 692) from the Study to Explore Early Development. Data on factors examined were obtained from questionnaires, standardized clinical instruments, and birth certificates. We employed a log-binomial regression to assess these associations. Although most associations were quite similar for currently and ever exhibiting self-injurious behaviors, a few differences were noted...
June 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28631707/-chondroprotectors-a-range-of-application-in-general-somatic-practice
#14
O A Shavlovskaya
Chondroprotectors (CP) are biological agents that contribute to the regeneration of the cartilage surfaces and articular capsule, participating in the metabolic processes of the articular cartilage. Progressive loss of hyaline cartilage and lower levels of chondroitin sulfate were observed in osteoarthritis (OA) at different sites, including dorsopathy. OA therapy is aimed at slowing disease progression, relieving pain symptoms, and reducing functional disorders. For this purpose, oral or injectable CPs (Chondroguard, Sustaguard) are prescribed...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28630090/t-cell-transcriptomes-from-paroxysmal-nocturnal-hemoglobinuria-patients-reveal-novel-signaling-pathways
#15
Kohei Hosokawa, Sachiko Kajigaya, Keyvan Keyvanfar, Wangmin Qiao, Yanling Xie, Danielle M Townsley, Xingmin Feng, Neal S Young
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired disorder originating from hematopoietic stem cells and is a life-threating disease characterized by intravascular hemolysis, bone marrow (BM) failure, and venous thrombosis. The etiology of PNH is a somatic mutation in the phosphatidylinositol glycan class A gene (PIG-A) on the X chromosome, which blocks synthesis of the glycolipid moiety and causes deficiency in GPI-anchored proteins. PNH is closely related to aplastic anemia, in which T cells mediate destruction of BM...
June 19, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28627265/atm-radiation-and-the-risk-of-second-primary-breast-cancer
#16
Jonine L Bernstein, Patrick Concannon
PURPOSE: It was first suggested more than 40 years ago that heterozygous carriers for the human autosomal recessive disorder Ataxia-Telangiectasia (A-T) might also be at increased risk for cancer. Subsequent studies have identified the responsible gene, Ataxia-Telangiectasia Mutated (ATM), characterized genetic variation at this locus in A-T and a variety of different cancers, and described the functions of the ATM protein with respect to cellular DNA damage responses. However, an overall model of how ATM contributes to cancer risk, and in particular, the role of DNA damage in this process, remains lacking...
June 19, 2017: International Journal of Radiation Biology
https://www.readbyqxmd.com/read/28627093/characterization-of-thrombosis-in-patients-with-proteus-syndrome
#17
Kim M Keppler-Noreuil, Jay N Lozier, Julie C Sapp, Leslie G Biesecker
Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism. Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and caused by a somatic activating mutation in AKT1. We conducted a comprehensive review of the medical histories and hematologic evaluations of 57 patients with Proteus syndrome to identify potential risk factors for thrombosis. We found that six of ten patients, who were deceased, died secondary to deep venous thrombosis and/or pulmonary embolism...
June 19, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28627003/sonographic-screening-for-wilms-tumor-in-children-with-cloves-syndrome
#18
Caitlin M Peterman, R Dawn Fevurly, Ahmad I Alomari, Cameron C Trenor, Denise M Adams, Sophie Vadeboncoeur, Marilyn G Liang, Arin K Greene, John B Mulliken, Steven J Fishman
BACKGROUND: CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. Wilms tumor (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain overgrowth disorders. After identifying WT in a child with CLOVES, we questioned whether ultrasonographic screening was necessary in these patients. METHODS: We retrospectively reviewed patients with CLOVES syndrome in our Vascular Anomalies Center at Boston Children's Hospital between 1998 and 2016 to identify those who developed WT...
June 19, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28626162/intervention-of-the-nuss-procedure-on-the-mental-health-of-pectus-excavatum-patients
#19
Li Luo, Bo Xu, Xinling Wang, Bo Tan, Jing Zhao
Pectus excavatum (PE) is the most common congenital chest wall deformity, but little is known about the influence of the Nuss surgical procedure on mental health of patients with PE. In this study, we aimed to evaluate the influence of the PE Nuss surgical procedure on mental health in Chinese patients and identify the predictors of psychological status for PE. Patients with PE (n = 266) underwent a standard surgical procedure by the same surgeon and did the Symptom Checklist 90 (SCL-90) and the Self-rating Depression Scale (SDS) questionnaires before and 1 year after surgery...
June 16, 2017: Annals of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28619687/use-of-the-central-sensitization-inventory-csi-as-a-treatment-outcome-measure-for-chronic-spinal-pain-disorder-patients-in-a-functional-restoration-program
#20
Randy Neblett, Meredith M Hartzell, Mark Williams, Kelley R Bevers, Tom G Mayer, Robert J Gatchel
BACKGROUND CONTEXT: The Central Sensitization Inventory (CSI) is a valid and reliable patient-reported instrument designed to identify patients whose presenting symptoms may be related to Central Sensitization (CS). Part A of the CSI measures a full array of 25 somatic and emotional symptoms associated with CS, and Part B asks if patients have previously been diagnosed with one or more specific Central Sensitivity Syndromes (CSSs) and related disorders. The CSI has previously been validated in a group of chronic pain patients who were screened by a trained psychiatrist for specific CSS diagnoses...
June 12, 2017: Spine Journal: Official Journal of the North American Spine Society
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