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https://www.readbyqxmd.com/read/29029377/gain-of-function-mutations-in-g-protein-coupled-receptor-genes-associated-with-human-endocrine-disorders
#1
REVIEW
Maki Fukami, Erina Suzuki, Maki Igarashi, Mami Miyado, Tsutomu Ogata
The human genome encodes more than 700 G-protein coupled receptors (GPCRs), many of which are involved in hormone secretion. To date, more than 100 gain-of-function (activating) mutations in at least ten genes for GPCRs, in addition to several loss-of-function mutations, have been implicated in human endocrine disorders. Previously reported gain-of-function GPCR mutations comprise various missense substitutions, frameshift mutations, intragenic inframe deletions, and copy-number gains. Such mutations appear in both germline and somatic tumour cells, and lead to various hormonal abnormalities reflecting excessive receptor activity...
October 13, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29024832/somatic-second-hit-mutation-of-rasa1-in-vascular-endothelial-cells-in-capillary-malformation-arteriovenous-malformation
#2
Philip E Lapinski, Abbas Doosti, Valerie Salato, Paula North, Patricia E Burrows, Philip D King
Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant vascular disorder that is associated with inherited inactivating mutations of the RASA1 gene in the majority of cases. Characteristically, patients exhibit one or more focal cutaneous CM that may occur alone or together with AVM, arteriovenous fistulas or lymphatic vessel abnormalities. The focal nature and varying presentation of lesions has led to the hypothesis that somatic "second hit" inactivating mutations of RASA1 are necessary for disease development...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29021766/a-randomized-controlled-trial-on-functional-relaxation-as-an-adjunct-to-psychoeducation-for-stress
#3
Claas Lahmann, Maria Gebhardt, Heribert Sattel, Andreas Dinkel, Christoph Pieh, Thomas Probst
This randomized controlled trial investigated whether adding the psychodynamically based body-oriented psychotherapy "Functional Relaxation" (FR) to psychoeducation (PE) is more effective than PE alone to reduce stress and stress-associated complaints. Eighty-one participants with elevated stress-levels, ≥50 points on the global scale of the Perceived Stress Questionnaire (PSQ), received either 10 sessions of manualized FR + PE (n = 42) or two sessions of manualized PE alone (n = 39) in a group setting. Six FR trainers took part in this study...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/29019474/are-pain-related-temporomandibular-disorders-the-product-of-an-interaction-between-psychological-factors-and-self-reported-bruxism
#4
Maurits Ka van Selms, Konstantin Muzalev, Corine M Visscher, Michail Koutris, Melike Bulut, Frank Lobbezoo
AIMS: To investigate whether pain-related temporomandibular disorders (TMD) are the product of an interaction between psychological factors and self-reported bruxism activities. METHODS: Patients referred to a specialized clinic for complaints of orofacial pain and dysfunction completed a digital questionnaire prior to the first clinical visit. The patient sample was then split into a case group consisting of 268 patients diagnosed with TMD pain according to the Diagnostic Criteria for Temporomandibular Disorders (85...
October 10, 2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/29019422/pharmacotherapy-of-mood-disorders-and-psychosis-in-pre-and-post-natal-women
#5
Beth Smith, Steven L Dubovsky
Untreated mood and psychotic disorders can have substantial adverse impacts on the patient, the fetus and the family, while treatment can ameliorate such problems. To address concerns by clinicians about the risks of psychotropic medications, this review addresses the risk/benefit analysis of somatic therapies for psychiatric disorders during pregnancy and lactation. Areas covered: All available research was reviewed on the impact on pregnancy and breastfeeding of mood and psychotic disorders, and of antidepressants, mood stabilizers, antipsychotic drugs, and electroconvulsive therapy...
October 11, 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/29019415/pain-characteristics-of-older-persons-with-medically-unexplained-symptoms-older-persons-with-medically-explained-symptoms-and-older-persons-with-depression
#6
Denise J C Hanssen, Peter L B J Lucassen, Paul Naarding, Margot W M de Waal, Richard C Oude Voshaar
OBJECTIVES: The main objective of the current study is to compare chronic pain characteristics of older patients with Medically Unexplained Symptoms (MUS), to those of patients with Medically Explained Symptoms (MES), and to those of patients with Major Depressive Disorder (MDD). METHOD: By combining data from the OPUS and NESDO study, we compared pain characteristics of 102 older (>60 years) MUS-patients to 145 older MES-patients and 275 older MDD-patients in a case-control study design...
October 11, 2017: Aging & Mental Health
https://www.readbyqxmd.com/read/29018561/disturbed-eeg-sleep-paranoid-cognition-and-somatic-symptoms-identify-veterans-with-post-traumatic-stress-disorder
#7
Harvey Moldofsky, Lorne Rothman, Robert Kleinman, Shawn G Rhind, J Donald Richardson
BACKGROUND: Chronic post-traumatic stress disorder (PTSD) behavioural symptoms and medically unexplainable somatic symptoms are reported to occur following the stressful experience of military combatants in war zones. AIMS: To determine the contribution of disordered EEG sleep physiology in those military combatants who have unexplainable physical symptoms and PTSD behavioural difficulties following war-zone exposure. METHOD: This case-controlled study compared 59 veterans with chronic sleep disturbance with 39 veterans with DSM-IV and clinician-administered PTSD Scale diagnosed PTSD who were unresponsive to pharmacological and psychological treatments...
November 2016: BJPsych Open
https://www.readbyqxmd.com/read/29018201/activating-de-novo-mutations-in-nfe2l2-encoding-nrf2-cause-a-multisystem-disorder
#8
Peter Huppke, Susann Weissbach, Joseph A Church, Rhonda Schnur, Martina Krusen, Steffi Dreha-Kulaczewski, W Nikolaus Kühn-Velten, Annika Wolf, Brenda Huppke, Francisca Millan, Amber Begtrup, Fatima Almusafri, Holger Thiele, Janine Altmüller, Peter Nürnberg, Michael Müller, Jutta Gärtner
Transcription factor NRF2, encoded by NFE2L2, is the master regulator of defense against stress in mammalian cells. Somatic mutations of NFE2L2 leading to NRF2 accumulation promote cell survival and drug resistance in cancer cells. Here we show that the same mutations as inborn de novo mutations cause an early onset multisystem disorder with failure to thrive, immunodeficiency and neurological symptoms. NRF2 accumulation leads to widespread misregulation of gene expression and an imbalance in cytosolic redox balance...
October 10, 2017: Nature Communications
https://www.readbyqxmd.com/read/29016669/major-depressive-disorder-and-suicide-risk-among-adult-outpatients-at-several-general-hospitals-in-a-chinese-han-population
#9
Haiyan Li, Xinni Luo, Xiaoyin Ke, Qing Dai, Wei Zheng, Chanjuan Zhang, Ryan M Cassidy, Jair C Soares, XiangYang Zhang, Yuping Ning
BACKGROUND: Somatic complaints are often the presenting symptoms of major depressive disorder (MDD) in the outpatient context, because this may go unrecognized. It is well understood that MDD carries an increased risk of suicide. This study aimed to identify the risk factors and association with both MDD and suicidality among Han Chinese outpatients. METHODS: A multicenter study was carried out in 5189 outpatient adults (≥18 years old) in four general hospitals in Guangzhou, China...
2017: PloS One
https://www.readbyqxmd.com/read/28992583/autonomic-dysfunction-of-gastric-motility-in-major-depression
#10
S Haj Kheder, J Heller, J K Bär, A Wutzler, B A Menge, G Juckel
BACKGROUND: Patients suffering from major depressive disorder (MDD) often complain about somatic symptoms. Cardiac complaints have been examined predominantly. However, gastrointestinal complaints are also reported frequently and are associated with worse outcomes. The research concerning changes in gastric motility of these patients is rather sparse. The aim of our study was to determine dysfunction of gastric motility and gastrointestinal symptoms in MDD. The duration and severity of MDD were examined regarding its influence over gastric emptying...
September 28, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28991350/neuroanatomical-structures-in-human-extraocular-muscles-and-their-potential-implication-in-the-development-of-oculomotor-disorders
#11
Ala Paduca, Jan Richard Bruenech
The potential role of sensory feedback from human extraocular muscles has been subjected to considerable speculation in the ophthalmic literature. Extraocular muscles pull against a fairly even load and do not initiate a stretch reflex, even when the eyes are directed toward the boundaries of their respective field of action. These unique working conditions and physiological properties have led to the notion that the sensory signal arising from receptors in extraocular muscles differs from the conventional proprioceptive signal arising from their somatic counterparts...
October 9, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28991148/recollections-of-emotional-abuse-and-neglect-in-childhood-as-risk-factors-for-depressive-disorders-and-the-need-for-psychotherapy-in-adult-life
#12
Eva Neumann
Theoretical and empirical works have pointed out that depression comes along with adverse interpersonal experiences in childhood and adult life. The purpose of this study was to explore whether past and current experiences differ in their relevance for depression. A clinical group of 80 psychotherapy patients diagnosed with a depressive disorder was contrasted with a control group of 111 nondepressed patients from somatic facilities. Child abuse, neglect, and adult attachment dimensions were measured with self-report scales...
October 5, 2017: Journal of Nervous and Mental Disease
https://www.readbyqxmd.com/read/28988793/the-combined-roles-of-nonsomatic-depressive-symptomatology-neurocognitive-function-and-current-substance-use-in-medication-adherence-in-adults-living-with-hiv-infection
#13
Travis M Scott, Desiree Byrd, Miguel Arce Rentería, Kelly Coulehan, Caitlin Miranda, Armando Fuentes, Monica Rivera Mindt
Depression, global neurocognitive (GNC) function, and substance use disorders (SUDs) are each associated with medication adherence in persons living with HIV (PLWH). Because somatic symptoms can inflate depression scores in PLWH, the role of nonsomatic depressive symptomatology (NSDS) should be considered in adherence. However, the combined roles of NSDS, GNC function, and current SUDs in predicting combined antiretroviral therapy (cART) adherence remain poorly understood. Forty PLWH (70% Latina/o; 30% non-Hispanic White) completed psychiatric/SUD, neurocognitive, and self-report cART adherence evaluations...
August 23, 2017: Journal of the Association of Nurses in AIDS Care: JANAC
https://www.readbyqxmd.com/read/28987576/genetic-parameters-for-health-traits-using-data-collected-from-genomic-information-nucleus-herds
#14
M Abdelsayed, M Haile-Mariam, J E Pryce
As with many other countries, data availability has been a limitation in Australia for developing breeding values for health traits. A genomic information nucleus of approximately 100 herds across the country, selected on the basis of their record keeping, has recently been established in Australia and is known as Ginfo. The objective of this study was to evaluate the feasibility of developing genomic breeding values for health traits using farmer-collected data from Ginfo herds. Having this genotyped population opens up opportunities to develop new genomic breeding values, such as dairy health traits...
October 4, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28985689/effect-of-age-period-and-birth-cohort-on-the-frequency-of-glucose-6-phosphate-dehydrogenase-deficiency-in-sardinian-adults
#15
Giovanni M Pes, Alessandra Errigo, Angela Bitti, Maria Pina Dore
BACKGROUND: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited disorder common in Sardinia. In this study the frequency variation of G6PD-deficiency across age groups and birth cohorts were investigated using Age-Period-Cohort analysis. METHODS: Data were collected from the clinical records of 11,252 patients (6,975 women, age range 17-94 years) who underwent endoscopy between 2000 and 2016 at a teaching hospital (University of Sassari), Italy. G6PD status was assessed by enzymatic assay based on G6PD/6GPD ratio...
October 6, 2017: Annals of Medicine
https://www.readbyqxmd.com/read/28985552/differential-symptomatology-and-functioning-in-borderline-personality-disorder-across-age-groups
#16
Álvaro Frías, Carol Palma, Laia Solves, Bárbara Martínez, Ana Salvador
There is increasing research aimed at addressing whether patients with borderline personality disorder (BPD) may exhibit variations in symptomatology and functioning according to their chronological age. The current study consisted of 169 outpatients diagnosed with BPD, who were divided into four age groups as follows: 16-25 years (n = 41), 26-35 years (n = 43), 36-45 years (n = 45), and 46 and more years (n = 40). Age groups were compared for symptomatology, normal personality traits, psychiatric comorbidities, functioning, and treatment-related features...
September 28, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28983794/somatic-hypermutation-defects-in-common-variable-immune-deficiency
#17
REVIEW
María Belén Almejun, Mercedes Borge
Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by impaired antibody production and recurrent infections. In the last 20 years, several groups have reported that B cells from CVID patients have an impaired somatic hypermutation (SHM). The reported frequency of this defect among CVID patient cohorts is highly variable and so is the methodology used to evaluate this process. Interestingly, the low level of SHM on B cells from CVID patients has been correlated with the presence of infectious and non-infectious complications...
October 5, 2017: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/28982680/chronic-psychosocial-stress-disturbs-long-bone-growth-in-adolescent-mice
#18
S Foertsch, M Haffner-Luntzer, J Kroner, F Gross, K Kaiser, M Erber, S O Reber, A Ignatius
Although a strong association between psychiatric and somatic disorders is generally accepted, little is known regarding the interrelation between mental and skeletal health. While depressive disorders were shown to be strongly associated with osteoporosis and increased fracture risk, evidence from post-traumatic stress disorder (PTSD) patients is less consistent. Therefore, the present study investigated the influence of chronic psychosocial stress on bone using a well-established murine model for PTSD. 7-week-old C57BL/6N mice were subjected to chronic subordinate colony housing (CSC) for 19 days, whereas control mice were singly housed...
October 5, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28982204/-psychiatric-and-somatic-comorbidities-of-eating-disorders-and-obesity-in-female-adolescent-and-adult-inpatients
#19
Julia Muehleck, Felicitas Richter, Luise Adametz, Bernhard Strauß, Uwe Berger
Objective The main aim of this study was to determine the prevalence of somatic and psychiatric comorbidities in female inpatients diagnosed with an eating disorder or obesity. Methods Statutory health insurance data (11 - 25 years, N = 1269) was analysed. Results The most frequent comorbidities for both groups were affective, neurotic, stress-related and somatoform as well as personality disorders and diseases of the digestive system. Conclusion Close to half of the patients diagnosed with an eating disorder suffered from psychiatric comorbidities...
October 2017: Psychiatrische Praxis
https://www.readbyqxmd.com/read/28977442/genetic-modifiers-of-mendelian-disease-huntington-s-disease-and-the-trinucleotide-repeat-disorders
#20
Peter A Holmans, Thomas H Massey, Lesley Jones
In the decades since the genes and mutations associated with the commoner Mendelian disorders were first discovered, technological advances in genetic analysis have made finding genomic variation a much less onerous task. Recently, the global efforts to collect subjects with Mendelian disorders, to better define the disorders and to empower appropriate clinical trials, along with improved genetic technologies, have allowed the identification of genetic variation that does not cause disease, but substantially modifies disease presentation...
October 1, 2017: Human Molecular Genetics
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