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https://www.readbyqxmd.com/read/28823102/the-etiology-of-primary-hyperhidrosis-a-systematic-review
#1
REVIEW
Moshe Hashmonai, Alan E P Cameron, Cliff P Connery, Noel Perin, Peter B Licht
PURPOSE: Primary hyperhidrosis is a pathological disorder of unknown etiology, affecting 0.6-5% of the population, and causing severe functional and social handicaps. As the etiology is unknown, it is not possible to treat the root cause. Recently some differences between affected and non-affected people have been reported. The aim of this review is to summarize these new etiological data. METHODS: Search of the literature was performed in the PubMed/Medline Database and pertinent articles were retrieved and reviewed...
August 19, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28822849/cyclic-3-5-adenosine-monophosphate-camp-signaling-in-the-anterior-pituitary-gland-in-health-and-disease
#2
REVIEW
Laura C Hernández-Ramírez, Giampaolo Trivellin, Constantine A Stratakis
The cyclic 3',5'-adenosine monophosphate (cAMP) was the first among the so-called "second messengers" to be described. It is conserved in most organisms and functions as a signal transducer by mediating the intracellular effects of multiple hormones and neurotransmitters. In this review, we first delineate how different members of the cAMP pathway ensure its correct compartmentalization and activity, mediate the terminal intracellular effects, and allow the crosstalk with other signaling pathways. We then focus on the pituitary gland, where cAMP exerts a crucial function by controlling the responsiveness of the cells to hypothalamic hormones, neurotransmitters and peripheral factors...
August 16, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28822752/comprehensive-analysis-of-tissue-wide-gene-expression-and-phenotype-data-reveals-tissues-affected-in-rare-genetic-disorders
#3
Ariel Feiglin, Bryce K Allen, Isaac S Kohane, Sek Won Kong
Linking putatively pathogenic variants to the tissues they affect is necessary for determining the correct diagnostic workup and therapeutic regime in undiagnosed patients. Here, we explored how gene expression across healthy tissues can be used to infer this link. We integrated 6,665 tissue-wide transcriptomes with genetic disorder knowledge bases covering 3,397 diseases. Receiver-operating characteristics (ROC) analysis using expression levels in each tissue and across tissues indicated significant but modest associations between elevated expression and phenotype for most tissues (maximum area under ROC curve = 0...
August 14, 2017: Cell Systems
https://www.readbyqxmd.com/read/28822697/head-and-neck-myiasis-a-case-series-and-review-of-the-literature
#4
José Alcides Almeida de Arruda, Leni Verônica de Oliveira Silva, Pedro Urquiza Jayme Silva, Eugênia Leal de Figueiredo, Gerhilde Callou, Ricardo Alves Mesquita, Belmiro Cavalcanti do Egito Vasconcelos
OBJECTIVE: This study describes 9 cases of myiasis affecting the head and neck region and discusses the demographic distribution, treatment, clinical characteristics, and sequelae of the disease in light of the literature. STUDY DESIGN: The study was performed in 2 steps. In the first part, 9 cases seen over a period of 10 years at the Emergency Department of Hospital da Restauração in Brazil were studied. In the second part, a literature search was performed in PubMed for articles on head and neck myiasis published from 1975 to March 2017...
July 5, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28822300/drinking-water-to-reduce-alcohol-craving-a-randomized-controlled-study-on-the-impact-of-ghrelin-in-mediating-the-effects-of-forced-water-intake-in-alcohol-addiction
#5
Anne Koopmann, Katharina Lippmann, Rilana Schuster, Iris Reinhard, Patrick Bach, Georg Weil, Marcella Rietschel, Stephanie H Witt, Klaus Wiedemann, Falk Kiefer
BACKGROUND: Recent data suggest that ghrelin is involved in the pathophysiology of alcohol use disorders, affecting alcohol self-administration and craving. Gastric ghrelin secretion is reduced by stomach distension. We now tested the hypothesis whether the clinically well-known effects of high-volume water intake on craving reduction in alcoholism is mediated by acute changes in ghrelin secretion. METHODS: In this randomized human laboratory study, we included 23 alcohol-dependent male inpatient subjects who underwent alcohol cue exposure...
August 5, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28822277/the-role-of-anxiety-sensitivity-in-reactivity-to-trauma-cues-in-treatment-seeking-adults-with-substance-use-disorders
#6
R Kathryn McHugh, Kim L Gratz, Matthew T Tull
BACKGROUND: Exposure to traumatic events and posttraumatic stress disorder (PTSD) are common among individuals with substance use disorders (SUDs). Although the presence of trauma exposure and/or PTSD among those with SUDs is associated with a range of negative outcomes, much remains to be understood about the factors contributing to these outcomes. Anxiety sensitivity (the tendency to respond fearfully to the signs and symptoms of anxiety) has been linked to greater PTSD symptoms and the use of substances to cope with PTSD symptoms, and is a promising factor for understanding the negative outcomes associated with co-occurring PTSD and SUDs...
July 31, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/28822033/clinical-and-polysomnographic-characteristics-of-excessive-daytime-sleepiness-in-children
#7
Jiwon Lee, Geonyoub Na, Eun Yeon Joo, Munhyang Lee, Jeehun Lee
PURPOSE: This study aimed to delineate the clinical and polysomnography (PSG) characteristics of sleep disorders in children with excessive daytime sleepiness (EDS). METHODS: Between February 2002 and June 2015, 622 pediatric patients with EDS were evaluated with overnight PSG and the Multiple Sleep Latency Test at the Samsung Medical Center. The medical records; questionnaire responses about depression, sleepiness, sleep habits; and sleep study data of 133 patients without obstructive sleep apnea (OSA) were reviewed retrospectively...
August 18, 2017: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/28822021/morus-nigra-and-its-major-phenolic-syringic-acid-have-antidepressant-like-and-neuroprotective-effects-in-mice
#8
Ana Paula Dalmagro, Anderson Camargo, Ana Lúcia Bertarello Zeni
Depression is a disorder with a high incidence that has been increasing worldwide although the pathophysiology remains unclear. Moreover, some studies revealed a higher concentration of glutamate and oxidative stress in the patients' brain, which causes cell death by excitotoxicity. Morus nigra L. is known as black mulberry and its leaves are popularly used to treat affections related to menopause, obesity and high cholesterol. M. nigra leaves are a rich fount of phenolics which well-known by the antioxidant property...
August 18, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28822003/pedophilia-themed-obsessive-compulsive-disorder-assessment-differential-diagnosis-and-treatment-with-exposure-and-response-prevention
#9
Simone Leavell Bruce, Terence H W Ching, Monnica T Williams
Fears of sexually harming children are fairly common among clients suffering from obsessive-compulsive disorder (OCD), yet these symptoms are largely unrecognized and frequently misdiagnosed by mental health professionals. Specifically, clients with pedophilia-themed OCD (P-OCD) experience excessive worries and distressing intrusive thoughts about being sexually attracted to, and sexually violating, children. Expressing these concerns may provoke misjudgments from uninformed mental health professionals that a client is presenting instead with pedophilic disorder...
August 18, 2017: Archives of Sexual Behavior
https://www.readbyqxmd.com/read/28821725/interplay-between-maternal-slc6a4-mutation-and-prenatal-stress-a-possible-mechanism-for-autistic-behavior-development
#10
Calvin P Sjaarda, Patrick Hecht, Amy J M McNaughton, Audrina Zhou, Melissa L Hudson, Matt J Will, Garth Smith, Muhammad Ayub, Ping Liang, Nansheng Chen, David Beversdorf, Xudong Liu
The low activity allele of the maternal polymorphism, 5HTTLPR, in the serotonin transporter, SLC6A4, coupled with prenatal stress is reported to increase the risk for children to develop autism spectrum disorder (ASD). Similarly, maternal Slc6a4 knock-out and prenatal stress in rodents results in offspring demonstrating ASD-like characteristics. The present study uses an integrative genomics approach to explore mechanistic changes in early brain development in mouse embryos exposed to this maternal gene-environment phenomenon...
August 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28821528/post-traumatic-stress-disorder-in-adult-victims-of-cluster-munitions-in-lebanon-a-10-year-longitudinal-study
#11
Jawad Fares, Souheil Gebeily, Mohamad Saad, Hayat Harati, Sanaa Nabha, Najwane Said, Mohamad Kanso, Ronza Abdel Rassoul, Youssef Fares
OBJECTIVE: This study aims to explore the short-term and long-term prevalence and effects of post-traumatic stress disorder (PTSD) among victims of cluster munitions. DESIGN AND SETTING: A prospective 10-year longitudinal study that took place in Lebanon. PARTICIPANTS: Two-hundred-and-forty-four Lebanese civilian victims of submunition blasts, who were injured in 2006 and were over 18 years old, were interviewed. Included were participants who had been diagnosed with PTSD according to the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) and the PTSD Checklist - Civilian Version in 2006...
August 18, 2017: BMJ Open
https://www.readbyqxmd.com/read/28821302/participation-of-adults-with-disorders-differences-of-sex-development-dsd-in-the-clinical-study-dsd-life-design-methodology-recruitment-data-quality-and-study-population
#12
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler
BACKGROUND: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality. METHODS/DESIGN: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes...
August 18, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28821263/protocol-for-a-scoping-review-to-map-evidence-from-randomised-controlled-trials-on-paediatric-eye-disease-to-disease-burden
#13
Lucinda J Teoh, Ameenat L Solebo, Jugnoo S Rahi
BACKGROUND: Currently, about 2 per 1000 children in the industrialised world are severely visually impaired or blind (SVI/BL) due to diverse uncommon conditions that are usually present from early infancy. The impact of SVI/BL is lifelong and life-changing. Thus, children are a priority in the WHO-led global initiative against avoidable blindness. The aim of this scoping review is to assess the current evidence base on interventions to prevent or treat the major causes of childhood SVI/BL, specifically the degree of alignment between robust interventional research (RCTs) and the burden (relative frequency) of the key causative disorders, identifying gaps in the evidence base for tackling childhood blindness...
August 18, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28821231/novel-mutations-in-pank2-and-pla2g6-genes-in-patients-with-neurodegenerative-disorders-two-case-reports
#14
Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which indicate an abnormal brain iron accumulation in the basal ganglia. However, the diagnosis of specific types should be based on both clinical findings and molecular genetic testing for genes associated with different types of NBIA, including PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17...
August 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28820908/ribosomopathy-like-properties-of-murine-and-human-cancers
#15
Sucheta Kulkarni, James M Dolezal, Huabo Wang, Laura Jackson, Jie Lu, Brian P Frodey, Atinuke Dosunmu-Ogunbi, Youjun Li, Marc Fromherz, Audry Kang, Lucas Santana-Santos, Panayiotis V Benos, Edward V Prochownik
Ribosomopathies comprise a heterogeneous group of hematologic and developmental disorders, often characterized by bone marrow failure, skeletal and other developmental abnormalities and cancer predisposition. They are associated with mutations and/or haplo-insufficiencies of ribosomal proteins (RPs) and inefficient ribosomal RNA (rRNA) processing. The resulting ribosomal stress induces the canonical p19ARF/Mdm2/p53 tumor suppressor pathway leading to proliferative arrest and/or apoptosis. It has been proposed that this pathway is then inactivated during subsequent neoplastic evolution...
2017: PloS One
https://www.readbyqxmd.com/read/28820871/genetic-predisposition-to-fetal-alcohol-syndrome-association-with-congenital-disorders-of-n-glycosylation
#16
María E de la Morena-Barrio, María J Ballesta-Martínez, Raquel López-Gálvez, Ana I Antón, Vanessa López-González, Laia Martínez-Ribot, José Padilla, Antonia Miñano, Oscar García-Algar, Miguel Del Campo, Javier Corral, Encarna Guillén-Navarro, Vicente Vicente
BACKGROUND: Fetal alcohol syndrome (FAS) is caused by maternal alcohol consumption during pregnancy, although additional factors must be involved, as development and severity are not directly related to alcohol intake. The abnormal glycosylation caused by alcohol might play a role in FAS according to the clinical similarities shared with congenital disorders of glycosylation (CDG). Thus, mutations underlying CDG, affecting genes involved in glycosylation, could also be involved in FAS...
August 18, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28820746/no-effects-of-d-cycloserine-enhancement-in-exposure-with-response-prevention-therapy-in-panic-disorder-with-agoraphobia-a-double-blind-randomized-controlled-trial
#17
Mieke Klein Hofmeijer-Sevink, Puck Duits, Marleen M Rijkeboer, Adriaan W Hoogendoorn, Harold J van Megen, Nienke C Vulink, Damiaan A Denys, Marcel A van den Hout, Anton J van Balkom, Danielle C Cath
PURPOSE/BACKGROUND: D-cycloserine (DCS) is a partial N-methyl-D-aspartate receptor agonist that potentially augments response to exposure therapy in anxiety disorders by enhancing extinction learning. This randomized, double-blinded, placebo-controlled augmentation trial examined (1) the effectiveness of adding 125 mg of DCS to exposure therapy (before or directly after the first 6 treatment sessions) in patients with panic disorder with agoraphobia and (2) the effectiveness of DCS augmentation preceding exposure relative to DCS augmentation directly postexposure...
August 18, 2017: Journal of Clinical Psychopharmacology
https://www.readbyqxmd.com/read/28820582/pathogenic-mutations-induce-partial-structural-changes-in-native-%C3%AE-sheet-structure-of-transthyretin-and-accelerate-aggregation
#18
Kwang Hun Lim, Anvesh K R Dasari, Renze Ma, Ivan Hung, Zhehong Gan, Jeffery W Kelly, Michael C Fitzgerald
Amyloid formation of natively folded proteins involves global and/or local unfolding of the native state to form aggregation-prone intermediates. Here we report solid-state NMR structural studies of amyloid derived from wild-type (WT) and more aggressive mutant forms of transthyretin (TTR) to investigate the structural changes associated with effective TTR aggregation. We employed selective 13C-labeling schemes to investigate structural features of β-structured core regions in amyloid states of WT and two mutant forms (V30M and L55P) of TTR...
August 18, 2017: Biochemistry
https://www.readbyqxmd.com/read/28820415/-complications-of-pregnancy-resulting-from-assisted-reproductive-technology
#19
A Aleksanyan
When pregnancy occurs as a result of assisted reproductive technologies (ART), there are more chances of developing complications and adverse outcomes for the mother and fetus compared to spontaneous pregnancies. Taking into account the noted features, the purpose of our study was to determine the nature of the complications of induced pregnancy and their frequency, depending on the causes of infertility. Under our supervision were 86 women with induced single-pregnancy. Two clinical groups were formed depending on the causes of infertility: group I was represented by 53 observations, in which infertility of endocrine genesis took place; Group II included 33 women with tubal peritoneal infertility...
July 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28820402/does-signaling-of-estrogen-related-receptors-affect-structure-and-function-of-bank-vole-leydig-cells
#20
P Pawlicki, A Milon, M Zarzycka, J Galas, W Tworzydlo, A Kaminska, L Pardyak, K Lesniak, A Pacwa, B Bilinska, E Gorowska-Wojtowicz, M Kotula-Balak
To get a deeper insight into the function of estrogen-related receptors (ERRs) and dissect underlying mechanism in Leydig cells, ERRs (type α, β and γ) were blocked or activated in testes of adult bank voles (Myodes glareolus) which show seasonal changes in the intratesticular sex hormones level. Both actively reproducing animals (long day conditions; LD) and those with regression of the reproductive system (short day conditions; SD) received intraperitoneal injections of selective ERRα antagonist 3-[4-(2,4-Bis-trifluoromethylbenzyloxy)-3-methoxyphenyl]-2-cyano-N-(5-trifluoromethyl-1,3,4-thiadiazol-2-yl)acrylamide (XCT 790) or selective ERRβ/ERRγ agonist N-(4-(Diethylaminobenzylidenyl)-N'-(4-hydroxybenzoyl)-hydrazine (DY131) (50 μ/kg bw; six doses every other day)...
June 2017: Journal of Physiology and Pharmacology: An Official Journal of the Polish Physiological Society
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