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https://www.readbyqxmd.com/read/28933969/psychopharmacological-advances-in-eating-disorders
#1
Hubertus Himmerich, Janet Treasure
Anorexia nervosa (AN), bulimia nervosa (BN) and binge eating disorder (BED) are the primary eating disorders (EDs). The only psychopharmacological treatment options for EDs with approval in some countries include fluoxetine for BN and lisdexamfetamine for BED. Given the high comorbidity and genetic correlations with other psychiatric disorders, it seems possible that novel medications for these conditions might also be effective in EDs. Areas Covered: The current scientific literature has increased our understanding of how medication could be beneficial for patients with EDs on a molecular, functional and behavioral level...
September 21, 2017: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/28933265/the-role-of-vitamin-d-in-multiple-sclerosis-biology-biochemistry-epidemiology-and-potential-roles-in-treatment
#2
Steve Simpson, Ingrid van der Mei, Bruce Taylor
Multiple sclerosis (MS) is a progressive, demyelinating condition of the central nervous system, manifesting in loss or alterations in function of sensory, motor and cognitive function. Of the various environmental and behavioural risk factors identified as playing a role in MS onset and progression, perhaps none has been as consistent as vitamin D. OBJECTIVE: In this review, we will endeavour to present a general background on the role of vitamin D in human health and particularly in MS, as well as the substantial epidemiological evidence in support of vitamin D's role in MS...
September 21, 2017: Medicinal Chemistry
https://www.readbyqxmd.com/read/28932979/tuberculous-meningitis-in-children-and-adults-new-insights-for-an-ancient-foe
#3
REVIEW
Alyssa Mezochow, Kiran Thakur, Christopher Vinnard
PURPOSE OF REVIEW: Tuberculous meningitis is the most devastating manifestation of infection with Mycobacterium tuberculosis and represents a medical emergency. Approximately one half of tuberculous meningitis patients die or suffer severe neurologic disability. The goal of this review will be to review the pathogenic, clinical, and radiologic features of tuberculous meningitis and to highlight recent advancements in translational and clinical science. RECENT FINDINGS: Pharmacologic therapy includes combination anti-tuberculosis drug regimens and adjunctive corticosteroids...
September 20, 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28932614/acute-low-dose-hydralazine-induced-lupus-pneumonitis
#4
Sarah K Holman, Donique Parris, Sarah Meyers, Jason Ramirez
A 35-year-old female was started on hydralazine 10 mg orally three times a day for treatment of postpartum hypertension. Three months later, after multiple unsuccessful courses of prednisone and antibiotics for presumed pneumonia and asthma exacerbations, her respiratory symptoms progressed in severity and she developed resting hypoxia. Previous diagnostic work-up included spirometry with a restrictive pattern, chest CT showing bilateral basilar consolidation, negative BAL, and nonspecific findings on lung biopsy of mild inflammatory cells...
2017: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/28932600/abnormal-n400-semantic-priming-effect-may-reflect-psychopathological-processes-in-schizophrenia-a-twin-study
#5
Anuradha Sharma, Heinrich Sauer, Holger Hill, Claudia Kaufmann, Stephan Bender, Matthias Weisbrod
OBJECTIVE: Activation of semantic networks is indexed by the N400 effect. We used a twin study design to investigate whether N400 effect abnormalities reflect genetic/trait liability or are related to psychopathological processes in schizophrenia. METHODS: We employed robust linear regression to compare N400 and behavioral priming effects across 36 monozygotic twin pairs (6 pairs concordant for schizophrenia/schizoaffective disorder, 11 discordant pairs, and 19 healthy control pairs) performing a lexical decision task...
2017: Schizophrenia Research and Treatment
https://www.readbyqxmd.com/read/28932296/genetic-diagnosis-of-chromosomal-congenital-anomalies-in-albanian-pediatric-patients-by-array-cgh
#6
Anila Babameto-Laku, Dorina Roko, Gentian Vyshka
AIM: The aim of our study was to identify chromosomal imbalances by whole-genome microarray-based comparative genomic hybridization (array CGH) in DNA samples of children in which karyotype results cannot be obtained. The present paper describes the first Albanian experience of an array CGH application. MATERIAL AND METHODS: The cohort included seven children with developmental delay or intellectual disability, facial dysmorphism and congenital anomalies according to clinical criteria, suggestive of chromosomal anomalies...
August 15, 2017: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28931501/cancer-predisposition-cascade-screening-for-hereditary-breast-ovarian-cancer-and-lynch-syndromes-in-switzerland-study-protocol
#7
Maria C Katapodi, Valeria Viassolo, Maria Caiata-Zufferey, Christos Nikolaidis, Rosmarie Bührer-Landolt, Nicole Buerki, Rossella Graffeo, Henrik Csaba Horváth, Christian Kurzeder, Manuela Rabaglio, Michael Scharfe, Corinne Urech, Tobias E Erlanger, Nicole Probst-Hensch, Karl Heinimann, Viola Heinzelmann-Schwarz, Olivia Pagani, Pierre O Chappuis
BACKGROUND: Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland, affecting more than 12,000 individuals annually. Hundreds of these patients are likely to carry germline pathogenic variants associated with hereditary breast ovarian cancer (HBOC) or Lynch syndrome (LS). Genetic services (counseling and testing) for hereditary susceptibility to cancer can prevent many cancer diagnoses and deaths through early identification and risk management...
September 20, 2017: JMIR Research Protocols
https://www.readbyqxmd.com/read/28931220/race-ethnicity-and-the-pharmacogenetics-of-reported-suicidality-with-efavirenz-among-clinical-trials-participants
#8
Katie R Mollan, Camlin Tierney, Jacklyn N Hellwege, Joseph J Eron, Michael G Hudgens, Roy M Gulick, Richard Haubrich, Paul E Sax, Thomas B Campbell, Eric S Daar, Kevin R Robertson, Diana Ventura, Qing Ma, Digna R Velez Edwards, David W Haas
Background: We examined associations between suicidality and genotypes that predict plasma efavirenz exposure among AIDS Clinical Trials Group study participants in the United States. Methods: Four clinical trials randomly assigned treatment-naive participants to efavirenz-containing regimens; suicidality was defined as reported suicidal ideation or attempted or completed suicide. Genotypes that predict plasma efavirenz exposure were defined by CYP2B6 and CYP2A6 polymorphisms...
September 1, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28930978/influenza-a-virus-studies-in-a-mouse-model-of-infection
#9
Laura Rodriguez, Aitor Nogales, Luis Martínez-Sobrido
Influenza viruses cause over 500,000 deaths worldwide(1) and are associated with an annual cost of 12 - 14 billion USD in the United States alone considering direct medical and hospitalization expenses and work absenteeism(2). Animal models are crucial in Influenza A virus (IAV) studies to evaluate viral pathogenesis, host-pathogen interactions, immune responses, and the efficacy of current and/or novel vaccine approaches as well as antivirals. Mice are an advantageous small animal model because their immune system is evolutionarily similar to that found in humans, they are available from commercial vendors as genetically identical subjects, there are multiple strains that can be exploited to evaluate the genetic basis of infections, and they are relatively inexpensive and easy to manipulate...
September 7, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28930807/breadth-of-genetic-testing-selected-by-patients-at-risk-of-hereditary-breast-and-ovarian-cancer
#10
J Brian Szender, Jasmine Kaur, Katherine Clayback, Mollie L Hutton, June Mikkelson, Kunle Odunsi, Cara Dresbold
OBJECTIVE: The aim of this study was to evaluate the ability of patients at risk of hereditary breast and ovarian cancer (HBOC) syndrome to select the extent of genetic testing personally preferred and the impact of demographic factors on the breadth of testing pursued. METHODS: A single-institution cohort was enumerated consisting of patients referred for clinical genetic counseling secondary to risk of HBOC syndrome. This was a retrospective study of consecutive patients seen for genetic counseling; all patients completed an epidemiologic questionnaire and provided personal and family medical histories...
September 19, 2017: International Journal of Gynecological Cancer
https://www.readbyqxmd.com/read/28929227/genetic-predisposition-in-children-with-cancer-affected-families-acceptance-of-trio-wes
#11
Triantafyllia Brozou, Julia Taeubner, Eunike Velleuer, Martin Dugas, Dagmar Wieczorek, Arndt Borkhardt, Michaela Kuhlen
A considerable percentage of childhood cancers are due to cancer predisposition syndromes (CPS). The ratio of CPSs caused by inherited versus de novo germline mutations and the risk of recurrence in other children are unknown. We initiated a prospective study performing whole-exome sequencing (WES) of parent-child trios in children newly diagnosed with cancer. We initially aimed to determine the interest in and acceptance of trio WES among affected families and to systematically collect demographic, medical, and family history data to analyze whether these point to an underlying CPS...
September 19, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28928611/brugada-syndrome-in-children-stepping-into-unchartered-territory
#12
REVIEW
Shashank P Behere, Steven N Weindling
Brugada syndrome (BrS) is an autosomal dominant inherited channelopathy. It is associated with a typical pattern of ST-segment elevation in the precordial leads V1-V3 and potentially lethal ventricular arrhythmias in otherwise healthy patients. It is frequently seen in young Asian males, in whom it has previously been described as sudden unexplained nocturnal death syndrome. Although it typically presents in young adults, it is also known to present in children and infants, especially in the presence of fever...
September 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28927820/a-novel-role-for-cilia-function-in-atopy-adgrv1-and-dnah5-interactions
#13
Pierre-Emmanuel Sugier, Myriam Brossard, Chloé Sarnowski, Amaury Vaysse, Andréanne Morin, Lucile Pain, Patricia Margaritte-Jeannin, Marie-Hélène Dizier, William O C M Cookson, Mark Lathrop, Miriam F Moffatt, Catherine Laprise, Florence Demenais, Emmanuelle Bouzigon
BACKGROUND: Atopy, an endotype underlying allergic diseases, has a substantial genetic component. OBJECTIVE: Our goal was to identify novel genes associated with atopy in asthma-ascertained families. METHODS: We implemented a three-step analysis strategy in three datasets: The Epidemiological study on the Genetics and Environment of Asthma (EGEA) dataset: 1,660 subjects; The Saguenay-Lac-Saint-Jean (SLSJ) dataset: 1,138 subjects; and The Medical Research Council (MRC) dataset: 446 subjects)...
September 16, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28927137/atypical-chronic-myeloid-leukemia-with-isochromosome-x-p10-a-case-report
#14
Masahide Yamamoto, Sayaka Suzuki, Jun-Ichi Mukae, Keisuke Tanaka, Ken Watanabe, Gaku Oshikawa, Tetsuya Fukuda, Naomi Murakami, Osamu Miura
Atypical chronic myeloid leukemia (aCML) is a rare subtype of myelodysplastic/myeloproliferative neoplasm (MDS/MPN). Although recurrent chromosomal and genetic abnormalities are frequently observed in aCML, none are specific to this type of leukemia. The present study reported a case of aCML associated with i(X)(p10), a rare recurrent chromosomal abnormality of hematological malignancy. A 40-year-old female was referred to the Tokyo Medical and Dental University Hospital (Tokyo, Japan) due to slight leukocytosis and anemia...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28927094/genomic-markers-of-ovarian-adenocarcinoma-and-its-relevancy-to-the-effectiveness-of-chemotherapy
#15
Monika Englert-Golon, Bartosz Burchardt, Bartlomiej Budny, Szymon Dębicki, Blanka Majchrzycka, Elzbieta Wrotkowska, Piotr Jasiński, Katarzyna Ziemnicka, Radosław Słopień, Marek Ruchała, Stefan Sajdak
Ovarian cancer is the eighth most common cancer and the seventh highest cause of cancer-associated mortality in women worldwide. It is the second highest cause of mortality among female reproductive malignancies. The current standard first-line treatment for advanced ovarian cancer includes a combination of surgical debulking and standard systemic platinum-based chemotherapy with carboplatin and paclitaxel. Although a deeper understanding of this disease has been attained, relapse occurs in 70% of patients 18 months subsequent to the first-line treatment...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28926561/mechanisms-of-accelerated-liver-fibrosis-in-hiv-hcv-coinfection
#16
Theofilos Chrysanthidis, Georgia Loli, Simeon Metallidis, Georgios Germanidis
Although there is evidence that HCV progresses rapidly in HIV/HCV coinfected patients in comparison with HCV monoinfected, the HIV-, HCV- and host/genetic-related factors, as well as the exact mechanisms implicated in this process are not fully elucidated. Furthermore, cure of HCV in those coinfected seems possible with the new antiviral drugs, but high cost as well as insufficient identification, linkage with care and treatment hamper the achievement of this goal. Research on the subject, could reveal an important prognostic marker for the effectiveness of persuasion of patients with HIV/HCV coinfection with a predicted accelerated fibrosis course, in order to facilitate and prioritize, not in terms of guidelines but in the real life situation, their treatment with a medically just framework...
September 19, 2017: AIDS Reviews
https://www.readbyqxmd.com/read/28926002/polygenic-loading-for-major-depression-is-associated-with-specific-medical-comorbidity
#17
T H McCoy, V M Castro, L Snapper, K Hart, J L Januzzi, J C Huffman, R H Perlis
Major depressive disorder frequently co-occurs with medical disorders, raising the possibility of shared genetic liability. Recent identification of 15 novel genetic loci associated with depression allows direct investigation of this question. In cohorts of individuals participating in biobanks at two academic medical centers, we calculated polygenic loading for risk loci reported to be associated with depression. We then examined the association between such loading and 50 groups of clinical diagnoses, or topics, drawn from these patients' electronic health records, determined using a novel application of latent Dirichilet allocation...
September 19, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28925994/chimeric-antigen-receptor-t-cell-therapy-assessment-and-management-of-toxicities
#18
REVIEW
Sattva S Neelapu, Sudhakar Tummala, Partow Kebriaei, William Wierda, Cristina Gutierrez, Frederick L Locke, Krishna V Komanduri, Yi Lin, Nitin Jain, Naval Daver, Jason Westin, Alison M Gulbis, Monica E Loghin, John F de Groot, Sherry Adkins, Suzanne E Davis, Katayoun Rezvani, Patrick Hwu, Elizabeth J Shpall
Immunotherapy using T cells genetically engineered to express a chimeric antigen receptor (CAR) is rapidly emerging as a promising new treatment for haematological and non-haematological malignancies. CAR-T-cell therapy can induce rapid and durable clinical responses, but is associated with unique acute toxicities, which can be severe or even fatal. Cytokine-release syndrome (CRS), the most commonly observed toxicity, can range in severity from low-grade constitutional symptoms to a high-grade syndrome associated with life-threatening multiorgan dysfunction; rarely, severe CRS can evolve into fulminant haemophagocytic lymphohistiocytosis (HLH)...
September 19, 2017: Nature Reviews. Clinical Oncology
https://www.readbyqxmd.com/read/28925882/why-are-antidepressant-drugs-effective-smoking-cessation-aids
#19
Mohammed Shoaib, Yazead Buhidma
Before the advent of varenicline, antidepressant drugs were reported to exhibit better clinical efficacy than nicotine replacement therapy as smoking cessation aids. The most studied is bupropion, a clinically-effective antidepressant, the first to be marketed throughout Europe for smoking cessation. The mechanisms behind bupropion's efficacy as a smoking cessation compound remains unclear. Since depression and tobacco smoking have a high incidence of co-occurrence, this would implicate an underlying link between these two conditions...
September 15, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28925273/-current-trends-in-gamete-donation-psychosocial-and-ethical-issues
#20
T Rumpíková, I Oborná, H Konečná
OBJECTIVE: To overview contemporary knowledge of legal and psychosocial rules in gamete donation. Previously, anonymous donation was preferred and recommended by experts but currently, with respect to the right to know the genetic origin of individuals, the relation to donor anonymity was reconsidered in many countries. There is a growing tendency to introduce the open identity system in gamete donation. Such system may guarantee that the child born after gamete donation may have receive the identification data of the donor of gametes...
2017: Ceská Gynekologie
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