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https://www.readbyqxmd.com/read/29668146/-adolescents-suffering-from-anorexia-nervosa-an-evidence-based-approach-of-the-parent-s-role-in-2018
#1
Sophie Vust, Solange Cook-Darzens, Françoise Lier, Anne-Emmanuelle Ambresin
A new paradigm in the management of adolescents with eating disorders promotes different treatment orientations aiming at increasing therapeutic effectiveness as well as offering a more integrated and coherent care for families. Particular attention is given to the process of refeeding to avoid the severe somatic sequelae of eating disorder and the risk of a chronic course for a disorder which is well known for its « addictive » power and influence. The parents and the need for a strong alliance with the healthcare team stand at the centre of this new paradigm...
April 18, 2018: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29665859/morphology-and-genomic-hallmarks-of-breast-tumours-developed-by-atm-deleterious-variant-carriers
#2
Anne-Laure Renault, Noura Mebirouk, Laetitia Fuhrmann, Guillaume Bataillon, Eve Cavaciuti, Dorothée Le Gal, Elodie Girard, Tatiana Popova, Philippe La Rosa, Juana Beauvallet, Séverine Eon-Marchais, Marie-Gabrielle Dondon, Catherine Dubois d'Enghien, Anthony Laugé, Walid Chemlali, Virginie Raynal, Martine Labbé, Ivan Bièche, Sylvain Baulande, Jacques-Olivier Bay, Pascaline Berthet, Olivier Caron, Bruno Buecher, Laurence Faivre, Marc Fresnay, Marion Gauthier-Villars, Paul Gesta, Nicolas Janin, Sophie Lejeune, Christine Maugard, Sébastien Moutton, Laurence Venat-Bouvet, Hélène Zattara, Jean-Pierre Fricker, Laurence Gladieff, Isabelle Coupier, Georgia Chenevix-Trench, Janet Hall, Anne Vincent-Salomon, Dominique Stoppa-Lyonnet, Nadine Andrieu, Fabienne Lesueur
BACKGROUND: The ataxia telangiectasia mutated (ATM) gene is a moderate-risk breast cancer susceptibility gene; germline loss-of-function variants are found in up to 3% of hereditary breast and ovarian cancer (HBOC) families who undergo genetic testing. So far, no clear histopathological and molecular features of breast tumours occurring in ATM deleterious variant carriers have been described, but identification of an ATM-associated tumour signature may help in patient management. METHODS: To characterise hallmarks of ATM-associated tumours, we performed systematic pathology review of tumours from 21 participants from ataxia-telangiectasia families and 18 participants from HBOC families, as well as copy number profiling on a subset of 23 tumours...
April 17, 2018: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/29664219/unusual-association-of-a-unique-cag-interruption-in-5-of-dm1-ctg-repeats-with-intergenerational-contractions-and-low-somatic-mosaicism
#3
Tome Stéphanie, Dandelot Elodie, Dogan Céline, Bertrand Alexis, Genevieve David, Pereon Yann, Simon Marie, Bonnefont Jean-Paul, Bassez Guillaume, Gourdon Geneviève
Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder associated with high variability of symptoms and anticipation. DM1 is caused by an unstable CTG repeat expansion that usually increases in successive generations and tissues. DM1 family pedigrees have shown that ∼90% and 10% of transmissions result in expansions and contractions of the CTG repeat, respectively. To date, the mechanisms of CTG repeat contraction remain poorly documented in DM1. In this report, we identified two new DM1 families with apparent contractions and no worsening of DM1 symptoms in two and three successive maternal transmissions...
April 17, 2018: Human Mutation
https://www.readbyqxmd.com/read/29660751/-exposure-therapy-with-the-help-of-a-wearable-defibrillator-device-used-in-the-treatment-of-severe-obsessive-compulsive-disorder-and-congenital-lqts-an-example-for-interdisciplinary-treatment
#4
Fabian Sinowatz, Clemens Jilek, Ulrich Voderholzer, Ulrich Cuntz, Martin Greetfeld, Petra Hopfner, Jürgen Pache
We report on a case of a young female suffering from both obsessive-compulsive disorder (OCD) and a severe underlying cardiac disease. Due to the somatic comorbidity, treatment according to guidelines with exposure and reaction prevention was not initially conducted, due to potentially fatal risks to the patient. However, through collaboration with a cardiology clinic, we were able to find an innovative solution which allowed for the continuation of the exposure therapy. This case report demonstrates a successful interdisciplinary collaboration and is intended to sensitize the reader to the need for checking for somatic contraindications before conducting exposure therapy...
April 16, 2018: Psychotherapie, Psychosomatik, Medizinische Psychologie
https://www.readbyqxmd.com/read/29656259/increased-coherence-based-regional-homogeneity-in-resting-state-patients-with-first-episode-drug-naive-somatization-disorder
#5
Yangpan Ou, Feng Liu, Jindong Chen, Pan Pan, Renrong Wu, Qinji Su, Zhikun Zhang, Jingping Zhao, Wenbin Guo
BACKGROUND: Abnormal neural activity has been observed in patients with somatization disorder (SD), especially in brain regions of the default-mode network (DMN). In this study, a coherence-based regional homogeneity (Cohe-ReHo) approach was used to detect abnormal regional synchronization in patients with SD, which might be used to differentiate the patients from the controls. METHODS: We recruited 25 patients with SD and 28 healthy controls. The imaging data of the participants were analyzed using the Cohe-ReHo approach...
April 6, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29653459/-cultural-influence-on-attitude-towards-psychotherapy-a-comparison-of-individuals-of-turkish-origin-with-individuals-without-migration-background
#6
Joachim Bretz, Dilek Sahin, Eva Janina Brandl, Meryam Schouler-Ocak
AIM: The present study compares the attitude towards psychotherapy of persons living in Germany with or without Turkish background. In this context, gender-related, disorder-specific and sociodemographic differences in openness towards psychotherapy are taken into account. METHODS: Individuals of Turkish origin (n=129) and individuals without migration background (n=129) were interviewed with the Questionnaire on Attitudes towards Psychotherapeutic Treatment, the Social Support Questionnaire, a short version of the Symptom-Checklist with the subscales anxiety, depression and somatization, and a sociodemographic questionnaire...
April 13, 2018: Psychotherapie, Psychosomatik, Medizinische Psychologie
https://www.readbyqxmd.com/read/29652306/-assessment-of-clinical-manifestations-and-treatment-of-post-stroke-depression-in-young-patients-with-ischemic-stroke
#7
M L Chukhlovina, A A Chukhlovin
AIM: To consider clinical manifestations and treatment of post-stroke depression in young patients with carotid ischemic stroke. MATERIAL AND METHODS: Forty patients, 24 women and 16 men, aged from 18 to 45 years old, diagnosed with ICD-10 post-stroke depression were examined. All patients underwent neurological examination, brain MRI and MR-angiography of cerebral vessels. The following psychometric tests were used: MMSE, Hamilton depression scale, CES-D depression scale, a questionnaire on nocturnal sleep assessment, and Epworth Sleepiness Scale...
2018: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29652239/ovotesticular-disorder-of-sex-development-ovotestis-in-simpson-golabi-behmel-syndrome-expansion-of-the-clinical-spectrum
#8
Monique E De Paepe, Lawrence Young, Julie R Jones, Umadevi Tantravahi
Simpson-Golabi-Behmel syndrome type I (SGBS, OMIM312870), caused by defects of the GPC3 and GPC4 genes on chromosome Xq26, is an X-linked recessive macrosomia/multiple congenital anomaly disorder characterized by somatic overgrowth, coarse facial features, variable congenital anomalies, increased tumor risk, and mild-to-moderate neurodevelopmental anomalies. We report the postmortem findings in 3 second-trimester male siblings with SGBS who displayed ambiguous genitalia (in all 3) and gonadal dysgenesis (ovotestis) (in 1), thus expanding the SGBS spectrum to include these disorders of sex development...
January 1, 2018: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29651832/psychological-wellbeing-in-parents-of-children-with-phenylketonuria-and-association-with-treatment-adherence
#9
Lidia Borghi, Elisabetta Salvatici, Giuseppe Banderali, Enrica Riva, Marcello Giovannini, Elena Vegni
BACKGROUND: Phenylketonuria (PKU) is a rare metabolic disorder that leads to severe neurological abnormalities unless early treated with a strict phenylalanine (Phe)-restricted diet. The parents' involvement in PKU management is crucial and could lead to psychological distress; however, few studies have explored the parents' psychological wellbeing. The study aimed to: 1) evaluate the presence of psychological distress and impaired quality of life among parents of children with PKU, assessing the load of the diagnosis and the load of the treatment management; 2) explore the associations with their children's blood-Phe levels...
April 12, 2018: Minerva Pediatrica
https://www.readbyqxmd.com/read/29651821/exploratory-factor-analysis-of-the-beck-anxiety-inventory-and-the-beck-depression-inventory-ii-in-a-psychiatric-outpatient-population
#10
Kounseok Lee, Daeho Kim, Yongrae Cho
BACKGROUND: To further understand the relationship between anxiety and depression, this study examined the factor structure of the combined items from two validated measures for anxiety and depression. METHODS: The participants were 406 patients with mixed psychiatric diagnoses including anxiety and depressive disorders from a psychiatric outpatient unit at a university-affiliated medical center. Responses of the Beck Anxiety Inventory (BAI), Beck Depression Inventory (BDI)-II, and Symptom Checklist-90-Revised (SCL-90-R) were analyzed...
April 16, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29649674/are-there-clinical-and-neurophysiologic-predictive-factors-for-a-positive-response-to-hf-rtms-in-patients-with-treatment-resistant-depression
#11
Anna Poleszczyk, Maria Rakowicz, Tadeusz Parnowski, Jakub Antczak, Łukasz Święcicki
Better selection of patients with treatment-resistant depression for high-frequency repetitive transcranial magnetic stimulation (HF-rTMS) would make the procedure more efficient. The objective of this study was to search for clinical and neurophysiologic predictors of therapeutic response with a special focus on the bipolar population. Forty patients (30 bipolar) underwent 20 daily sessions of HF-rTMS. Clinical outcome measures included the 21-item Hamilton Depression Rating Scale, the Beck Depression Inventory, the Clinical Global Impression, and the Patient Global Impression...
April 3, 2018: Psychiatry Research
https://www.readbyqxmd.com/read/29649018/frequency-of-map2k1-tp53-and-u2af1-mutations-in-braf-mutated-langerhans-cell-histiocytosis-further-characterizing-the-genomic-landscape-of-lch
#12
Lisa M McGinnis, Grant Nybakken, Lisa Ma, Daniel A Arber
Langerhans cell histiocytosis is a proliferative disorder of neoplastic Langerhans cells with activating mutations in the Erk signaling pathway. TP53 and U2AF1 mutations have been implicated in other myelomonocytic malignancies and we hypothesized that mutations in these genes may cosegregate in LCH patients according to BRAF mutation status. Towards this end, we collected cases with a pathologic diagnosis of Langerhans cell histiocytosis from Stanford University Hospital. We analyzed the status of known pathogenic alleles in BRAF, ARAF, TP53, U2AF1, and MAP2K1 on formalin-fixed, paraffin-embedded tissue by direct sequencing...
April 11, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29643265/thirty-day-readmission-rates-and-associated-factors-a-multilevel-analysis-of-practice-variations-in-french-public-psychiatry
#13
Coralie Gandré, Jeanne Gervaix, Julien Thillard, Jean-Marc Macé, Jean-Luc Roelandt, Karine Chevreul
BACKGROUND: Inpatient psychiatric readmissions are often used as an indicator of the quality of care and their reduction is in line with international recommendations for mental health care. Research on variations in inpatient readmission rates among mental health care providers is therefore of key importance as these variations can impact equity, quality and efficiency of care when they do not result from differences in patients' needs. AIMS OF THE STUDY: Our objectives were first to describe variations in inpatient readmission rates between public mental health care providers in France on a nationwide scale, and second, to identify their association with patient, health care providers and environment characteristics...
March 1, 2018: Journal of Mental Health Policy and Economics
https://www.readbyqxmd.com/read/29628193/metabolism-metabolomics-and-inflammation-in-posttraumatic-stress-disorder
#14
REVIEW
Synthia H Mellon, Aarti Gautam, Rasha Hammamieh, Marti Jett, Owen M Wolkowitz
Posttraumatic stress disorder (PTSD) is defined by classic psychological manifestations, although among the characteristics are significantly increased rates of serious somatic comorbidities, such as cardiovascular disease, immune dysfunction, and metabolic syndrome. In this review, we assess the evidence for disturbances that may contribute to somatic pathology in inflammation, metabolic syndrome, and circulating metabolites (implicating mitochondrial dysfunction) in individuals with PTSD and in animal models simulating features of PTSD...
February 22, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29624642/cannabidiol-regulates-behavioural-alterations-and-gene-expression-changes-induced-by-spontaneous-cannabinoid-withdrawal
#15
Francisco Navarrete, Auxiliadora Aracil-Fernández, Jorge Manzanares
BACKGROUND AND PURPOSE: Cannabidiol (CBD) represents a promising therapeutic tool for treating cannabis use disorder (CUD). This study aimed to evaluate the effects of CBD on the behavioural and gene expression alterations induced by spontaneous cannabinoid withdrawal. EXPERIMENTAL APPROACH: Spontaneous cannabinoid withdrawal was evaluated 12 h after cessation of CP-55,940 treatment (0.5 mg·kg-1 /12 h; intraperitoneally (i.p.); 7 days) in C57BL/6J mice. The effects of CBD (5, 10 and 20 mg·kg-1 ; i...
April 6, 2018: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29623775/culturally-sensitive-assessment-of-anxious-depressive-distress-in-vietnam-avoiding-category-truncation
#16
Devon E Hinton, Amie Alley Pollack, Bahr Weiss, Lam T Trung
The present study investigated what complaints are prominent in psychologically distressed Vietnamese in Vietnam beyond standard symptoms assessed by Western diagnostic instruments for anxiety and depression. To form the initial Vietnamese Symptom and Cultural Syndrome Addendum (VN SSA), we reviewed the literature, consulted experts, and conducted focus groups. The preliminary VN SSA was then used in a general survey (N = 1004) of five provinces in Vietnam. We found that the VN SSA items were highly and significantly correlated with a measure of anxious-depressive psychopathology (a composite measure of the General Anxiety Disorder-7; Posttraumatic Diagnostic Scale; and Patient Health Questionnaire-9)...
January 1, 2018: Transcultural Psychiatry
https://www.readbyqxmd.com/read/29623195/is-panic-disorder-a-disorder-of-physical-fitness-a-heuristic-proposal
#17
REVIEW
Giampaolo Perna, Daniela Caldirola
Currently, panic disorder (PD) is considered a mental disorder based on the assumptions that panic attacks (PAs) are "false alarms" that arise from abnormally sensitive defense systems in the central nervous system and that PD is treated with therapies specifically acting on anxiety or fear mechanisms. This article aims to propose an alternative perspective based on the results of some experimental studies. Our heuristic proposal suggests not only that PD may be a mental disorder but also that patients with PD have real abnormal body functioning, mainly involving cardiorespiratory and balance systems, leading to a decline in global physical fitness...
2018: F1000Research
https://www.readbyqxmd.com/read/29621832/identifying-associations-between-somatic-mutations-and-clinicopathologic-findings-in-lung-cancer-pathology-reports
#18
Nishant Kumar, Laura J Tafe, John H Higgins, Jason D Peterson, Francise Blumental de Abreu, Sophie J Deharvengt, Gregory J Tsongalis, Christopher I Amos, Saeed Hassanpour
OBJECTIVE: We aim to build an informatics methodology capable of identifying statistically significant associations between the clinical findings of non-small cell lung cancer (NSCLC) recorded in patient pathology reports and the various clinically actionable genetic mutations identified from next-generation sequencing (NGS) of patient tumor samples. METHODS: We built an information extraction and analysis pipeline to identify the associations between clinical findings in the pathology reports of patients and corresponding genetic mutations...
February 2018: Methods of Information in Medicine
https://www.readbyqxmd.com/read/29618800/a-rapid-crispr-cas-based-mutagenesis-assay-in-zebrafish-for-identification-of-genes-involved-in-thyroid-morphogenesis-and-function
#19
A Trubiroha, P Gillotay, N Giusti, D Gacquer, F Libert, A Lefort, B Haerlingen, X De Deken, R Opitz, S Costagliola
The foregut endoderm gives rise to several organs including liver, pancreas, lung and thyroid with important roles in human physiology. Understanding which genes and signalling pathways regulate their development is crucial for understanding developmental disorders as well as diseases in adulthood. We exploited unique advantages of the zebrafish model to develop a rapid and scalable CRISPR/Cas-based mutagenesis strategy aiming at the identification of genes involved in morphogenesis and function of the thyroid...
April 4, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29616714/clinical-profile-of-inpatients-referred-to-a-consultation-liaison-psychiatry-service-an-observational-study-assessing-changes-over-a-10-yearperiod
#20
Roberto Sánchez-González, Eva Baillès-Lázaro, Anna Bastidas-Salvadó, Anna Lligoña, Sandra Herranz-Villanueva, Víctor Pérez-Solá, Luis Pintor-Pérez
OBJECTIVE: Previous research has described the characteristics of Consultation-liaison psychiatry (CLP) services over one or more years. The aim of this paper was to examine the patterns of a large sample of patients receiving CLP service over a 10-year-period (2005–2014) and to determine the possible changes over time of the clinical practice. The sample size of our study, the duration of the observation period and the application of standardized operating procedures for acquiring and coding data, will provide more robust evidence than has been reported by most similar studies published in the last years...
March 2018: Actas Españolas de Psiquiatría
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