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https://www.readbyqxmd.com/read/29140276/clinical-profile-associated-with-adverse-childhood-experiences-the-advent-of-nervous-system-dysregulation
#1
Jorina Elbers, Cynthia R Rovnaghi, Brenda Golianu, Kanwaljeet J S Anand
BACKGROUND: We report the prevalence of children with multiple medical symptoms in a pediatric neurology clinic, describe their symptom profiles, and explore their association with adverse childhood experiences (ACEs). METHODS: We retrospectively reviewed 100 consecutive patients from an outpatient pediatric neurology clinic. Patients were included if they were ≥5 years old and reported ≥4 symptoms that were unexplained for ≥3-months. Symptom profiles across six functional domains were recorded: (1) executive dysfunction, (2) sleep disturbances, (3) autonomic dysregulation, (4) somatization, (5) digestive symptoms, and (6) emotional dysregulation...
November 15, 2017: Children
https://www.readbyqxmd.com/read/29140111/purging-exhausted-virus-specific-cd8-t-cell-phenotypes-by-somatic-cell-reprogramming
#2
Joshua Chan, Patrick Y Kim, Emiko Kranz, Yoshiko Nagaoka, YooJin Lee, Jing Wen, Heidi J Elsaesser, Meng Qin, David G Brooks, Gene-Errol Ringpis, Irvin S Y Chen, Masakazu Kamata
Cytotoxic T cells are critical in controlling virus infections. However, continuous antigen stimulation and negative regulatory factors cause CD8 T cells to enter a dysfunctional state (T cell exhaustion), resulting in viral persistence. We hypothesized that the exhausted T cell state could be molecularly rejuvenated using a somatic cell reprogramming technology, which is technically able to convert any types of cells to induced pluripotent stem cells (iPSCs), to regenerate functional T cells capable of purging chronic infection...
November 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/29137632/descriptive-study-of-interprofessional-collaboration-between-physicians-and-osteopaths-for-the-pediatric-population-in-quebec-canada
#3
Chantal Morin, Johanne Desrosiers, Isabelle Gaboury
BACKGROUND: Osteopathy is an increasingly popular healthcare approach that uses a wide variety of therapeutic manual techniques to address pain and somatic dysfunction. In Quebec, Canada, osteopathy is the complementary medicine most often recommended by family physicians. However, factors fostering the development of interprofessional collaboration (IPC) between physicians and osteopaths are unknown. This study aimed to describe the current situation in terms of IPC among practitioners working with pediatric patients...
November 14, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/29128673/bi-allelic-irf8-mutation-a-complex-immunodeficiency-syndrome-with-dendritic-cell-deficiency-monocytopenia-and-immune-dysregulation
#4
Venetia Bigley, Sheetal Maisuria, Urszula Cytlak, Laura Jardine, Matthew A Care, Kile Green, Merry Gunawan, Paul Milne, Rachel Dickinson, Sarah Wiscombe, David Parry, Rainer Doffinger, Arian Laurence, Claudia Fonseca Lic, Oda Stoevesandt, Andrew Gennery, Andrew Cant, Reuben Tooze, A John Simpson, Sophie Hambleton, Sinisa Savic, Gina Doody, Matthew Collin
BACKGROUND: Homozygous K108E mutation of interferon regulatory factor 8 (IRF8) is reported to cause dendritic cell and monocyte deficiency. However, more widespread immune dysfunction is predicted from the multiple roles ascribed to IRF8 in immune cell development and function. OBJECTIVE: We sought to describe the effect on hematopoiesis and immunity of compound heterozygous R83C/ R291Q mutation of IRF8, present in a patient with recurrent viral infection, granulo-proliferation and intracerebral calcification...
November 8, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29128371/assessments-of-neurocognitive-and-behavioral-function-in-the-mucopolysaccharidoses
#5
REVIEW
Elsa G Shapiro, Maria L Escolar, Kathleen A Delaney, John J Mitchell
The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders in which accumulation of glycosaminoglycans (GAGs) leads to progressive tissue and organ dysfunction. In addition to a variety of somatic signs and symptoms, patients with rapidly progressing MPS I (Hurler), II, III, and VII can present with significant neurological manifestations, including impaired cognitive abilities, difficulties in language and speech, behavioral abnormalities, sleep problems, and/or seizures. Neurological symptoms have a substantial impact on the quality of life of MPS patients and their families...
September 15, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29111092/quantitative-neuroimaging-in-mucopolysaccharidoses-clinical-trials
#6
REVIEW
Igor Nestrasil, Leonardo Vedolin
The mucopolysaccharidosis (MPS) disorders are rare lysosomal storage disorders caused by mutations in lysosomal enzymes involved in glycosaminoglycan (GAG) degradation. The resulting intracellular accumulation of GAGs leads to widespread tissue and organ dysfunction. In addition to somatic signs and symptoms, patients with MPS can present with neurological manifestations such as cognitive decline, behavioral problems (e.g. hyperactivity and aggressiveness), sleep disturbances, and/or epilepsy. These are associated with significant abnormalities of the central nervous system (CNS), including white and gray matter lesions, brain atrophy, ventriculomegaly, and spinal cord compression...
September 15, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29109730/t-follicular-helper-cells-and-b-cell-dysfunction-in-aging-and-hiv-1-infection
#7
REVIEW
Suresh Pallikkuth, Lesley de Armas, Stefano Rinaldi, Savita Pahwa
T follicular helper (Tfh) cells are a subset of CD4 T cells that provide critical signals to antigen-primed B cells in germinal centers to undergo proliferation, isotype switching, and somatic hypermutation to generate long-lived plasma cells and memory B cells during an immune response. The quantity and quality of Tfh cells therefore must be tightly controlled to prevent immune dysfunction in the form of autoimmunity and, on the other hand, immune deficiency. Both Tfh and B cell perturbations appear during HIV infection resulting in impaired antibody responses to vaccines such as seasonal trivalent influenza vaccine, also seen in biologic aging...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29109664/a-cross-sectional-study-of-psychiatric-disorders-in-medical-sciences-students
#8
Farkhondeh Jamshidi, Sasan Mogehi, Maria Cheraghi, Seiedeh Farzaneh Jafari, Iman Kabi, Leila Rashidi
Introduction: Aim of article was to investigate the prevalence of psychiatric disorders (depression, social dysfunction, anxiety and somatic symptoms) and some of its influencing factors in freshmen at Ahvaz Jundishapur University of Medical Sciences. Methods: This was a cross-sectional study which has conducted among 781 new students of all faculties of University in 2014. A study tool was the General Health Questionnaire (GHQ28). Results: Founding of this study has shown that from 781 students under study (33% male and 67% female)...
September 2017: Materia Socio-medica
https://www.readbyqxmd.com/read/29102870/depression-and-associated-factors-in-nondemented-chinese-patients-with-parkinson-s-disease
#9
Jun Zhu, Liyu Lu, Yang Pan, Bo Shen, Shulan Xu, Yuchao Hou, Xiangrong Zhang, Li Zhang
OBJECTIVES: Depression is more common in Parkinson's disease (PD) than other chronic and disabling disorders. This study aimed to estimate the prevalence and identify potential risk factors influencing depression in 519 consecutive nondemented Chinese PD patients. PATIENTS AND METHODS: Depression was assessed using the Hamilton Rating Scale for Depression (HAMD), PD severity was assessed using Hoehn and Yahr (H&Y) staging, motor symptoms were measured with the Unified PD Rating Scale (UPDRS) part III, and the Non-Motor Symptoms Questionnaire (NMS-Quest) was used to evaluate the global non-motor symptoms (NMS)...
October 31, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29102411/what-can-mitochondrial-dna-analysis-tell-us-about-mood-disorders
#10
REVIEW
Takaoki Kasahara, Tadafumi Kato
Variants in mitochondrial DNA (mtDNA) and nuclear genes encoding mitochondrial proteins in bipolar disorder, depression, or other psychiatric disorders have been studied for decades, since mitochondrial dysfunction was first suggested in the brains of patients with these diseases. Candidate gene association studies initially resulted in findings compatible with the mitochondrial dysfunction hypothesis. Many of those studies, however, were conducted with modest sample sizes (N < 1000), which could cause false positive findings...
September 21, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29100547/efficient-generation-of-p53-biallelic-knockout-diannan-miniature-pigs-via-talens-and-somatic-cell-nuclear-transfer
#11
Youfeng Shen, Kaixiang Xu, Zaimei Yuan, Jianxiong Guo, Heng Zhao, Xuezeng Zhang, Lu Zhao, Yubo Qing, Honghui Li, Weirong Pan, Baoyu Jia, Hong-Ye Zhao, Hong-Jiang Wei
BACKGROUND: Pigs have many features that make them attractive as biomedical models for various diseases, including cancer. P53 is an important tumor suppressor gene that exerts a central role in protecting cells from oncogenic transformation and is mutated in a large number of human cancers. P53 mutations occur in almost every type of tumor and in over 50% of all tumors. In a recent publication, pigs with a mutated P53 gene were generated that resulted in lymphoma and renal and osteogenic tumors...
November 3, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29095780/a-stinging-suspicion-something-was-just-not-right-methamphetamine-toxicity-in-infant-mimics-scorpion-envenomation
#12
Holly E Pariury, Aimee M Steiniger, Merlin C Lowe
The sting from Centuroides sculpturatus, commonly known as the bark scorpion, is a serious medical problem and can be potentially fatal to young children. Centuroides sculpturatus envenomation can cause a wide spectrum of symptoms, often including autonomic dysfunction, cranial nerve abnormalities, and somatic motor abnormalities. We discuss a 6-month-old male infant who presented with signs and symptoms consistent with bark scorpion envenomation, later found to be secondary to methamphetamine toxicity. Emergency pediatricians should be aware of the strong similarities between scorpion envenomation and methamphetamine toxicity in pediatric patients residing in or having visited the southwestern region of the United States...
November 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29095328/c9orf72-intermediate-repeat-expansion-in-a-patient-with-psychiatric-disorders-and-progressive-cerebellar-ataxia
#13
Mario Meloni, Rita Farris, Paolo Solla, Marcello M Mascia, Francesco Marrosu, Antonino Cannas
INTRODUCTION: Large expansions of the noncoding GGGGCC repeat (more than 30) in the first intron of the C9ORF72 gene have been demonstrated to cause amyotrophic lateral sclerosis and frontotemporal dementia. Recent papers have investigated the possible pathogenic role and associated clinical phenotypes of hexanucleotide expansions with intermediate repeat lengths ranging between 20 and 29 repeats. CASE REPORT: We report a case of a 71-year-old Sardinian female patient with a long history of psychiatric disorders such as mixed anxiety-depressive disorder associated with somatization disorder and histrionic personality who developed a slowly progressive cerebellar syndrome, mild cognitive impairment, pyramidal signs, and rapid eye movement sleep behavior disorder with imaging abnormalities on the DaTSCAN single-photon emission computed tomography indicating an alteration in the presynaptic dopaminergic system...
November 2017: Neurologist
https://www.readbyqxmd.com/read/29081790/the-melim-minipig-an-original-spontaneous-model-to-explore-cutaneous-melanoma-genetic-basis
#14
REVIEW
Emmanuelle Bourneuf
Melanoma is the deadliest skin cancer and is a major public health concern with a growing incidence worldwide. As for other complex diseases, animal models are needed in order to better understand the mechanisms leading to pathology, identify potential biomarkers to be used in the clinics, and eventually molecular targets for therapeutic solutions. Cutaneous melanoma, arising from skin melanocytes, is mainly caused by environmental factors such as UV radiation; however a significant genetic component participates in the etiology of the disease...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29078732/abnormal-turning-and-its-association-with-self-reported-symptoms-in-chronic-mtbi
#15
Peter C Fino, Lucy Parrington, Merissa Walls, Emily Sippel, Timothy E Hullar, James C Chesnutt, Laurie A King
Turning is common in daily activity and requires rapid, coordinated reorientation of the head and trunk, and pelvis towards the new direction of travel. Yet, turning gait has not been well explored in populations with mild traumatic brain injury (mTBI) who may alter their turning behavior according to self-perceived symptoms or motor dysfunction. The purpose of this study was to examine turning velocities and coordination in adults with chronic mTBI (>3 months post-injury and still reporting balance complaints) during a task simulating everyday ambulation...
October 27, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/29074036/developmental-and-behavioral-aspects-of-mucopolysaccharidoses-with-brain-manifestations-neurological-signs-and-symptoms
#16
REVIEW
Elsa G Shapiro, Simon A Jones, Maria L Escolar
The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders, caused by mutations in lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). The resulting accumulation of GAGs in the body leads to widespread tissue and organ dysfunction. The spectrum, severity, and progression rate of clinical manifestations varies widely between and within the different MPS types. In addition to somatic signs and symptoms, which vary between the different MPS disorders, patients with MPS I, II, III, and VII present with significant neurological signs and symptoms, including impaired cognitive abilities, difficulties in language and speech, and/or behavioral and sleep problems...
August 26, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29072184/dysfunctional-internet-behaviour-symptoms-in-association-with-personality-traits
#17
E Tsiolka, I D Bergiannaki, M Margariti, M Malliori, Ch Papageorgiou
Internet addiction is a matter of great interest for researchers, taking into consideration Internet's rapid spread and its ever growing use in children, adolescents and adults. It has been associated with multiple psychological symptoms and social difficulties, therefore raising even greater concerns for its adverse consequences. The present study that consists part of a broader research, aims to investigate the association between excessive Internet use and personality traits in an adult population. Specifically, the research examined the relation between dysfunctional internet behaviour and personality traits as neuroticism and extraversion, the two personality dimensions that have arisen as the most important ones in all relevant research...
July 2017: Psychiatrikē, Psychiatriki
https://www.readbyqxmd.com/read/29071455/assessment-of-significant-psychological-distress-at-the-end-of-pregnancy-and-associated-factors
#18
L Lorén-Guerrero, A Gascón-Catalán, D Pasierb, M A Romero-Cardiel
The aim of this study is to study the prevalence of mental distress at the end of pregnancy and after birth and the impact of selected socio-demographic and obstetric factors. This is a cross-sectional study. The sample is consisted of 351 puerperal women at the age of 18 and over. Sociodemographic, obstetric variables were collected to detect significant psychological distress; the instrument used was General Health Questionnaire (GHQ-28). Logistic multivariable regressions were used to investigate associations...
October 25, 2017: Archives of Women's Mental Health
https://www.readbyqxmd.com/read/29071403/specific-cell-re-programming-approaches-and-perspectives
#19
Frauke Hausburg, Julia Jeannine Jung, Robert David
Many disorders are manifested by dysfunction of key cell types or their disturbed integration in complex organs. Thereby, adult organ systems often bear restricted self-renewal potential and are incapable of achieving functional regeneration. This underlies the need for novel strategies in the field of cell (re-)programming-based regenerative medicine as well as for drug development in vitro. The regenerative field has been hampered by restricted availability of adult stem cells and the potentially hazardous features of pluripotent embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs)...
October 26, 2017: Advances in Biochemical Engineering/biotechnology
https://www.readbyqxmd.com/read/29057273/correlates-of-calcaneal-quantitative-ultrasound-parameters-in-patients-with-diabetes-the-study-on-the-assessment-of-determinants-of-muscle-and-bone-strength-abnormalities-in-diabetes
#20
Francesco Conti, Stefano Balducci, Luca Pugliese, Valeria D'Errico, Martina Vitale, Elena Alessi, Gerardo Salerno, Carla Iacobini, Stefano Menini, Lucilla Bollanti, Antonio Nicolucci, Giuseppe Pugliese
OBJECTIVE: Quantitative ultrasound (QUS) provides an estimate of bone mineral density (BMD) and also evaluates bone quality, which has been related to increased fracture risk in people with diabetes. This study aimed at assessing the correlates of calcaneal QUS parameters in diabetic subjects encompassing various degrees of micro and macrovascular complications and a wide-range of peripheral nerve function. METHODS: Four hundred consecutive diabetic patients were examined by QUS to obtain values of broadband ultrasound attenuation (BUA), the speed of sound (SOS), quantitative ultrasound index (QUI), and BMD...
2017: Journal of Diabetes Research
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