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https://www.readbyqxmd.com/read/29908030/cutaneous-involvement-in-an-8-year-old-boy-with-ras-associated-autoimmune-leucoproliferative-disorder-rald
#1
A Giacaman, A Bauzá Alonso, J A Salinas Sanz, J L Dapena Díaz, R Ramos Asensio, L Ferrés Ramis, M A Durán Pastor, A Martín-Santiago
Ras-associated autoimmune leucoproliferative disorder (RALD) is a nonmalignant syndrome associated with somatic KRAS mutations. We report a patient with RALD and cutaneous lesions, the first such case reported, to our knowledge. An 8-year-old boy presented with erythematous plaques on his face and body, along with lymphadenopathies and spleen enlargement without systemic symptoms. An increased number of monocytes were found in skin biopsy, peripheral blood and bone marrow (BM). Juvenile myelomonocytic leukaemia (JMML) was suspected...
June 16, 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29905621/early-life-somatic-complaints-longitudinal-associations-with-maternal-and-child-psychopathology
#2
Melissa L Engel, Dominika A Winiarski, Brooke L Reidy, Patricia A Brennan
OBJECTIVE: Somatic complaints, often associated with concurrent and future internalizing symptoms and disorders in adult samples, were examined longitudinally from preschool to school age in a sample of children at an increased familial risk for psychopathology. The behavioral correlates and sex differences of somatic complaints and the persistence of these complaints across early childhood were examined. METHOD: A longitudinal sample of 185 mothers completed a laboratory visit when children were preschool aged and an online follow-up when children were school aged...
June 13, 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/29905543/importance-of-isolated-gestational-hypothyroxinemia-in-the-development-of-obstetric-and-somatic-pathologies
#3
N Morchiladze, B Tkeshelashvili, T Gagua, D Gagua
The isolated hypothyroxinemia of pregnancy (IHP) has gained specific attention in the specialized literature during the recent years as the possible factor impeding the intellectual development of fetus and increasing the risk of complications related with pregnancy, delivery and perinatal period. Aim of the study was to define the importance of isolated hypothyroxinemia in the development of obstetric and somatic pathologies in outpatient population of pregnant females. The study of prospective design was performed at the base of "David Gagua Clinic" Ltd...
May 2018: Georgian Medical News
https://www.readbyqxmd.com/read/29900567/somatic-symptoms-of-anxiety-and-suicide-ideation-among-treatment-seeking-youth-with-anxiety-disorders
#4
Erika A Crawford, Taylor A Burke, David Siegel, Shari Jager-Hyman, Lauren B Alloy, Philip C Kendall
OBJECTIVE: The severity of anxiety, in general, has been associated with suicide ideation (SI) among youth, but research has yet to examine the specific anxiety symptoms that may contribute to SI among youth. This study examined the severity of specific anxiety symptom clusters (i.e., tense/restless, somatic/autonomic symptoms, humiliation/rejection, performing in public, separation anxiety, perfectionism, and anxious coping) and SI in youth who met diagnostic criteria for an anxiety disorder...
June 14, 2018: Suicide & Life-threatening Behavior
https://www.readbyqxmd.com/read/29899452/targeted-therapy-in-patients-with-pik3ca-related-overgrowth-syndrome
#5
Quitterie Venot, Thomas Blanc, Smail Hadj Rabia, Laureline Berteloot, Sophia Ladraa, Jean-Paul Duong, Estelle Blanc, Simon C Johnson, Clément Hoguin, Olivia Boccara, Sabine Sarnacki, Nathalie Boddaert, Stephanie Pannier, Frank Martinez, Sato Magassa, Junna Yamaguchi, Bertrand Knebelmann, Pierre Merville, Nicolas Grenier, Dominique Joly, Valérie Cormier-Daire, Caroline Michot, Christine Bole-Feysot, Arnaud Picard, Véronique Soupre, Stanislas Lyonnet, Jeremy Sadoine, Lotfi Slimani, Catherine Chaussain, Cécile Laroche-Raynaud, Laurent Guibaud, Christine Broissand, Jeanne Amiel, Christophe Legendre, Fabiola Terzi, Guillaume Canaud
CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related overgrowth syndromes (PROS). This rare condition has no specific treatment and a poor survival rate. Here, we describe a postnatal mouse model of PROS/CLOVES that partially recapitulates the human disease, and demonstrate the efficacy of BYL719, an inhibitor of PIK3CA, in preventing and improving organ dysfunction...
June 13, 2018: Nature
https://www.readbyqxmd.com/read/29898625/branched-chain-amino-acids-are-associated-with-metabolic-parameters-in-bipolar-disorder
#6
F T Fellendorf, M Platzer, R Pilz, A Rieger, H P Kapfhammer, H Mangge, N Dalkner, S Zelzer, A Meinitzer, A Birner, S A Bengesser, R Queissner, C Hamm, R Hartleb, E Z Reininghaus
OBJECTIVES: An important aspect of bipolar disorder (BD) research is the identification of biomarkers pertaining to the somatic health state. The branched-chain essential amino acids (BCAAs), viz valine, leucine and isoleucine, have been proposed as biomarkers of an individual's health state, given their influence on protein synthesis and gluconeogenesis inhibition. METHODS: BCAA levels of 141 euthymic/subsyndromal individuals with BD and 141 matched healthy controls (HC) were analyzed by high-pressure lipid chromatography and correlated with clinical psychiatric, anthropometric and metabolic parameters...
June 14, 2018: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/29896680/ebv-in-t-nk-cell-tumorigenesis
#7
Hiroshi Kimura
Epstein-Barr virus (EBV), which is associated with B-cell proliferative disorders, also transforms T- or natural killer (NK)-lineage cells and has been connected with various T- or NK (T/NK)-cell malignancies, such as extranodal NK/T-cell lymphoma-nasal type and aggressive NK-cell leukemia. Chronic active EBV (CAEBV) disease , which occurs most often in children and young adults in East Asia, is an EBV-associated T-/NK-cell lymphoproliferative disease. Patients with CAEBV often progress to overt lymphoma or leukemia over a long-term clinical course...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29896119/cerebral-ischemia-changed-the-effect-of-metabosensitive-muscle-afferents-on-somatic-reflex-without-affecting-thalamic-activity
#8
Caroline Pin-Barre, Christophe Pellegrino, Frédéric Laurin, Jérôme Laurin
The purpose of the present study was to examine the contribution of group III and IV metabosensitive afferents at spinal and supraspinal levels in rats subjected to middle cerebral artery occlusion (MCAO) with reperfusion during the acute phase. Animals were randomized in Control ( n = 23), SHAM ( n = 18), MCAO-D1 ( n = 10), and MCAO-D7 ( n = 20) groups. Rats performed the Electrical Von Frey and the Adhesive removal tests before the surgery and at day 1 (D1), D3, and D7 after MCAO. Animals were subjected to electrophysiological recordings including the responses of group III/IV metabosensitive afferents to combinations of chemical activators and the triceps brachii somatic reflex activity at D1 or D7...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29896052/somatic-symptoms-of-depression-and-anxiety-in-people-with-multiple-sclerosis
#9
Salene M W Jones, Rana Salem, Dagmar Amtmann
Background: People with multiple sclerosis (MS) are at increased risk for depression and anxiety. The symptoms of MS are often similar to the somatic or physical symptoms of depression and anxiety (fatigue, trouble concentrating). This study examined whether MS symptoms and effects biased the assessment of somatic symptoms of anxiety and depression. Methods: People with MS (n = 513) completed a survey about MS symptoms, treatments, and distress. The Patient Health Questionnaire-9 assessed depression, and the patient-report version of the Primary Care Evaluation of Mental Disorders assessed anxiety...
May 2018: International Journal of MS Care
https://www.readbyqxmd.com/read/29895759/classical-risk-factors-and-inflammatory-biomarkers-one-of-the-missing-biological-links-between-cardiovascular-disease-and-major-depressive-disorder
#10
Thomas C Baghai, Gabriella Varallo-Bedarida, Christoph Born, Sibylle Häfner, Cornelius Schüle, Daniela Eser, Peter Zill, André Manook, Johannes Weigl, Somayeh Jooyandeh, Caroline Nothdurfter, Clemens von Schacky, Brigitta Bondy, Rainer Rupprecht
BACKGROUND: Cardiovascular disorders (CVD) and major depressive disorder (MDD) are the most frequent diseases worldwide responsible for premature death and disability. Behavioral and immunological variables influence the pathophysiology of both disorders. We therefore determined frequency and severity of MDD in CVD and studied whether MDD without CVD or other somatic diseases influences classical and inflammatory biomarkers of cardiovascular risk. In addition, we investigated the influence of proinflammatory cytokines on antidepressant treatment outcome...
June 12, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29892053/a-systematic-review-and-meta-analysis-of-271-pcdh19-variant-individuals-identifies-psychiatric-comorbidities-and-association-of-seizure-onset-and-disease-severity
#11
REVIEW
Kristy L Kolc, Lynette G Sadleir, Ingrid E Scheffer, Atma Ivancevic, Rachel Roberts, Duyen H Pham, Jozef Gecz
Epilepsy and Mental Retardation Limited to Females (EFMR) is an infantile onset disorder characterized by clusters of seizures. EFMR is due to mutations in the X-chromosome gene PCDH19, and is underpinned by cellular mosaicism due to X-chromosome inactivation in females or somatic mutation in males. This review characterizes the neuropsychiatric profile of this disorder and examines the association of clinical and molecular factors with neuropsychiatric outcomes. Data were extracted from 38 peer-reviewed original articles including 271 individual cases...
June 11, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29891099/-personality-and-somatic-disorders
#12
J-M Darves-Bornoz
In the title of this text, by somatic disorders we mean those physical illnesses clearly related to a non-psychiatric medical field, frequently termed psychosomatic illnesses and somatoform disorders. For forty years, a trend of thought has focused with pertinence on the psychological peculiarities in patients with severe somatic diseases. Moreover, causality was often supposed in the regularly mentioned association between personality features and somatoform disorders. However, the revival of the study of the earlier field of relationships between mind and body by Briquet, Charcot, Janet and Freud in his first period has led to the reassessment of the meaning of these observations...
June 8, 2018: L'Encéphale
https://www.readbyqxmd.com/read/29888425/pathological-gambling-in-parkinson-s-disease-autonomic-measures-and-impaired-decision-making
#13
Laura Angioletti, Chiara Siri, Nicoletta Meucci, Gianni Pezzoli, Michela Balconi
According to the somatic marker hypothesis, autonomic measures and arousal modulation can reveal a difference in subgroups of patients developing impaired decision-making because of addictions. Previously, Pathological Gambling (PG) and Parkinson's Disease (PD) have been associated with differential arousal levels during gambling behavior. However, no research considered the specific autonomic responses of Parkinson's Disease patients with pathological gambling and with a previous history of gambling. Thus, this study investigated Skin Conductance Responses (SCRs), Skin Conductance Level (SCL) and Heart Rate (HR) during the Iowa Gambling Task (IGT) in two groups of PD patients with gambling disorder, active (PD Gamblers; n=14) or remitted (PD Non-Gamblers; n=13) and a control group of patients with Parkinson's Disease only (n=13)...
June 11, 2018: European Journal of Neuroscience
https://www.readbyqxmd.com/read/29883875/low-dose-or-low-dose-rate-ionizing-radiation-induced-health-effect-in-the-human
#14
REVIEW
Feng Ru Tang, Konstantin Loganovsky
The extensive literature review on human epidemiological studies suggests that low dose ionizing radiation (LDIR) (≤100 mSv) or low dose rate ionizing radiation (LDRIR) (<6mSv/H) exposure could induce either negative or positive health effects. These changes may depend on genetic background, age (prenatal day for embryo), sex, nature of radiation exposure, i.e., acute or chronic irradiation, radiation sources (such as atomic bomb attack, fallout from nuclear weapon test, nuclear power plant accidents, 60 Co-contaminated building, space radiation, high background radiation, medical examinations or procedures) and radionuclide components and human epidemiological experimental designs...
June 5, 2018: Journal of Environmental Radioactivity
https://www.readbyqxmd.com/read/29883054/genetic-compensation-of-runx-family-transcription-factors-in-leukemia
#15
REVIEW
Yasuhiko Kamikubo
RUNX1 is a transcription factor belonging to the Core Binding Factor (CBF) family. It is considered to be a master regulator of hematopoiesis and has been regarded as a tumor suppressor because it is essential for definitive hematopoiesis in vertebrates. It is one of the most frequent target genes of chromosomal translocation in leukemia, and germ line mutation of RUNX1 causes familial platelet disorder with associated myeloid malignancies (FPDMM). Somatic cell mutations and chromosomal abnormalities, including those of RUNX1, are observed in myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), and chronic myelomonocytic leukemia (CMML) at a high frequency...
June 8, 2018: Cancer Science
https://www.readbyqxmd.com/read/29881312/women-s-experiences-with-postpartum-anxiety-disorders-a-narrative-literature-review
#16
REVIEW
Elena Ali
Purpose: Postpartum anxiety disorders are common and may have significant consequences for mothers and their children. This review examines the literature on women's experiences with postpartum generalized anxiety disorder (GAD), postpartum panic disorder (PD), obsessive compulsive disorder (OCD), and posttraumatic stress disorder (PTSD). Methods: MEDLINE (Ovid), CINAHL, PsycINFO, and reference lists were searched. Qualitative and quantitative studies assessing women's experiences with GAD, postpartum PD, OCD, and PTSD were included...
2018: International Journal of Women's Health
https://www.readbyqxmd.com/read/29878827/gender-differences-in-depression-among-veterans-with-spinal-cord-injury
#17
Catherine S Wilson, Stephanie L Nassar, Lisa Ottomanelli, Scott D Barnett, Eni Njoh
PURPOSE: Little is known about gender differences in depression among veterans with spinal cord injury (SCI). Accordingly, the main objectives of this study were (a) to examine demographic and clinical characteristics of veterans with SCI; (b) to investigate gender differences in lifetime depression and depressive symptom severity, including probable major depressive disorder (MDD); and (c) to identify contributory factors (e.g., pain, life satisfaction) for gender differences in depression...
May 2018: Rehabilitation Psychology
https://www.readbyqxmd.com/read/29876601/-prevalence-of-sleep-related-breathing-disorders-of-inpatients-with-psychiatric-disorders
#18
M Behr, J Acker, S Cohrs, M Deuschle, H Danker-Hopfe, R Göder, C Norra, K Richter, D Riemann, C Schilling, H-G Weeß, T C Wetter, L M Wollenburg, T Pollmächer
BACKGROUND: Sleep-related breathing disorders seriously impair well-being and increase the risk for relevant somatic and psychiatric disorders. Moreover, risk factors for sleep-related breathing disorders are highly prevalent in psychiatric patients. The aim of this study was for the first time in Germany to study the prevalence of obstructive sleep apnea syndrome (OSAS) as the most common form of sleep-related breathing disorder in patients with psychiatric disorders. METHODS: In 10 psychiatric hospitals in Germany and 1 hospital in Switzerland, a total of 249 inpatients underwent an 8‑channel sleep polygraphy to investigate the prevalence of sleep apnea in this group of patients...
June 6, 2018: Der Nervenarzt
https://www.readbyqxmd.com/read/29875707/all-unhappy-childhoods-are-unhappy-in-their-own-way-differential-impact-of-dimensions-of-adverse-childhood-experiences-on-adult-mental-health-and-health-behavior
#19
Anna L Westermair, Anne M Stoll, Wiebke Greggersen, Kai G Kahl, Michael Hüppe, Ulrich Schweiger
Adverse childhood experiences have consistently been linked with poor mental and somatic health in adulthood. However, due to methodological restraints of the main lines of research using cumulative or selective models, little is known about the differential impact of different dimensions of adverse childhood experiences. Therefore, we gathered data from 396 psychiatric in-patients on the Adverse Childhood Experiences (ACE) questionnaire, extracted dimensions using factor analysis and compared this dimensional model of adverse childhood experiences to cumulative and selective models...
2018: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29875420/written-pretest-information-and-germline-brca1-2-pathogenic-variant-testing-in-unselected-breast-cancer-patients-predictors-of-testing-uptake
#20
Martin P Nilsson, Erik D Nilsson, Barbro Silfverberg, Åke Borg, Niklas Loman
PURPOSE: This study aimed to evaluate predictors of testing uptake among unselected breast cancer patients who were offered germline BRCA1/2 testing in a prospective study. METHODS: Pretest information was provided by a standardized invitation letter instead of in-person counseling. Data was abstracted from medical records. Using multivariate logistic regressions, predictors of testing uptake were analyzed. RESULTS: The overall uptake of testing was 67% (539 of 805 patients)...
June 6, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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