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https://www.readbyqxmd.com/read/28101307/review-and-recommendations-on-management-of-adult-female-thalassemia-patients-with-hypogonadism-based-on-literature-review-and-experience-of-icet-a-network-specialists
#1
REVIEW
Vincenzo De Sanctis, Ashraf T Soliman, Heba Elsedfy, Alice Albu, Soad Al Jaouni, Salvatore Anastasi, Maria Grazia Bisconte, Duran Canatan, Soteroula Christou, Shahina Daar, Salvatore Di Maio, Mohamed El Kholy, Doaa Khater, Mohamed Elshinawy, Yurdanur Kilinc, Roberto Mattei, Hala H Mosli, Alessandra Quota, Maria Grazia Roberti, Praveen Sobti, Saif Al Yaarubi, Saveria Canpisi, Christos Kattamis
BACKGROUND: Multi-transfused thalassemia major (TM) patients frequently develop severe endocrine complications, mainly due to iron overload, anemia, and chronic liver disease, which require prompt diagnosis, treatment and follow-up by specialists. The most common endocrine complication documented is hypogonadotropic hypogonadism which increases with age and associated comorbidities. It is thus important for physicians to have a clear understanding of the pathophysiology and management of this disorder...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28099628/elevated-plasma-concentrations-of-s100-calcium-binding-protein-b-and-tumor-necrosis-factor-alpha-in-children-with-autism-spectrum-disorders
#2
Selin Aktan Guloksuz, Osman Abali, Esin Aktas Cetin, Sema Bilgic Gazioglu, Gunnur Deniz, Abdurrahman Yildirim, Ivana Kawikova, Sinan Guloksuz, James F Leckman
Objective: To investigate plasma concentrations of S100B (a calcium-binding protein derived primarily from the glia) and inflammatory cytokines in children with autism and the relationship between S100B and cytokine concentrations. Methods: Plasma levels of S100B, tumor necrosis factor alpha (TNF-α), interferon gamma, interleukin (IL)-1β, IL-4, IL-6, IL-10, and IL-17A were measured in 40 unmedicated children with autism and 35 normally developing healthy children...
January 12, 2017: Revista Brasileira de Psiquiatria
https://www.readbyqxmd.com/read/28095810/neonatal-screening-for-congenital-adrenal-hyperplasia-in-southern-brazil-a-population-based-study-with-108-409-infants
#3
Cristiane Kopacek, Simone Martins de Castro, Mayara Jorgens Prado, Claudia Maria Dornelles da Silva, Luciana Amorim Beltrão, Poli Mara Spritzer
BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil...
January 17, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28094446/deep-sequencing-of-a-candidate-region-harboring-the-sox9-gene-for-the-canine-xx-disorder-of-sex-development
#4
J Nowacka-Woszuk, I Szczerbal, H Pausch, S Hundi, M K Hytönen, A Grzemski, K Flisikowski, H Lohi, M Switonski, M Szydlowski
A disorder of sex development (DSD) in dogs with female sex chromosomes (78, XX), a lack of the SRY gene and the presence of testes or ovotestes is commonly diagnosed in numerous breeds. The molecular background of DSD is not fully recognized but has been linked to the copy number variation in the region harboring the SOX9 gene. We applied a genome-wide association study and targeted next-generation sequencing techniques to compare DSD and normal female dogs. The genome-wide association study did not indicate a significant chromosome region...
January 17, 2017: Animal Genetics
https://www.readbyqxmd.com/read/28092092/domains-of-daily-physical-activity-in-children-with-mitochondrial-disease-a-3d-accelerometry-approach
#5
Saskia Koene, Ilse Dirks, Esmee van Mierlo, Pascal R de Vries, Anjo J W M Janssen, Jan A M Smeitink, Arjen Bergsma, Hans Essers, Kenneth Meijer, Imelda J M de Groot
Feasible, sensitive and clinically relevant outcome measures are of extreme importance when designing clinical trials. For paediatric mitochondrial disease, no robust end point has been described to date. The aim of this study was to select the domains of daily physical activity, which can be measured by 3D accelerometry, that could serve as sensitive end points in future clinical trials in children with mitochondrial disorders.In this exploratory observational study, 17 patients with mitochondrial disease and 16 age- and sex-matched controls wore 3D accelerometers at the upper leg, upper arm, lower arm and chest during one weekend...
January 17, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28091432/depression-and-posttraumatic-stress-disorder-among-road-traffic-accident-victims-managed-in-a-tertiary-hospital-in-southern-nigeria
#6
J E Asuquo, B E Edet, I E Abang, E A Essien, O G Osakwe, E J Aigbomain, K C Chigbundu
BACKGROUND: Psychological responses to traumatic events vary widely across different cultures but studies in the developing countries are scant. The objective of this study is to determine prevalence of depression and posttraumatic stress disorder (PTSD) among patients involved in road traffic accident (RTA) compared with that of the general population using a matched control group. MATERIALS AND METHODS: The study design was case control and employed the convenient sampling technique...
February 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28089186/predictors-of-same-day-discharge-in-primary-total-joint-arthroplasty-patients-and-risk-factors-for-post-discharge-complications
#7
Alex Sher, Aakash Keswani, Dong-Han Yao, Michael Anderson, Karl Koenig, Calin S Moucha
BACKGROUND: Same-day (<24 h) discharge total joint arthroplasty (TJA) may be a safe and effective option for certain patients with end-stage osteoarthritis. Given the growing pressure to improve quality and lower TJA episode costs, surgeons must identify which TJA patients can be appropriately discharged home quickly and safely. This study identifies characteristics associated with same-day discharge post-TJA as well as assesses risk factors for complications in this select patient population...
December 22, 2016: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28088658/exposure-to-chronic-early-life-stress-lastingly-alters-the-adipose-tissue-the-leptin-system-and-changes-the-vulnerability-to-western-style-diet-later-in-life-in-mice
#8
K Y Yam, E F G Naninck, M R Abbink, S E la Fleur, L Schipper, J C van den Beukel, A Grefhorst, A Oosting, E M van der Beek, P J Lucassen, A Korosi
Early-life stress (ES) increases the vulnerability to develop psychopathologies and cognitive decline in adulthood. Interestingly, this is often comorbid with metabolic disorders, such as obesity. However, it is unclear whether ES leads to lasting metabolic changes and to what extent this is associated with the ES-induced cognitive impairments. Here, we used an established chronic ES mouse model (from postnatal day (P) 2 to P9) to investigate the short- and long-term effects of ES exposure on parameters of the adipose tissue and the leptin system (i...
December 23, 2016: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28087836/neuropathological-consequences-of-gestational-exposure-to-concentrated-ambient-fine-and-ultrafine-particles-in-the-mouse
#9
Carolyn Klocke, Joshua L Allen, Marissa Sobolewski, Margot Mayer-Pröschel, Jason L Blum, Dana Lauterstein, Judith T Zelikoff, Deborah A Cory-Slechta
Increasing evidence indicates that the central nervous system (CNS) is a target of air pollution. We previously reported that postnatal exposure of mice to concentrated ambient ultrafine particles (UFP; ≤100nm) via the University of Rochester HUCAPS system during a critical developmental window of CNS development, equivalent to human 3(rd) trimester, produced male-predominant neuropathological and behavioral characteristics common to multiple neurodevelopmental disorders, including autism spectrum disorder (ASD), in humans...
January 13, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28087634/genome-wide-identification-of-regulatory-elements-in-sertoli-cells
#10
Danielle M Maatouk, Anirudh Natarajan, Yoichiro Shibata, Lingyun Song, Gregory E Crawford, Uwe Ohler, Blanche Capel
A current goal of molecular biology is to identify transcriptional networks regulating cell differentiation. However, identifying functional gene regulatory elements has been challenging in the context of developing tissues where material is limited and cell types are mixed. To identify regulatory sites during sex determination, we subjected Sertoli cells from mouse fetal testes to DNaseI-seq and ChIP-seq for H3K27ac. DNaseI-seq identified putative regulatory sites around Sertoli- and pregranulosa-enriched genes; however, active enhancers marked by H3K27ac were enriched proximal only to Sertoli-enriched genes...
January 13, 2017: Development
https://www.readbyqxmd.com/read/28087404/mood-and-anxiety-disorders-precede-development-of-functional-gastrointestinal-disorders-in-patients-but-not-in-the-population
#11
Michael P Jones, Jan Tack, Lukas Van Oudenhove, Marjorie M Walker, Gerald Holtmann, Natasha A Koloski, Nicholas J Talley
BACKGROUND & AIMS: Understanding the interactions between brain and gastrointestinal disorders requires analysis of the order of disease onset. We analyzed data from 2 independent studies to determine the proportion of individuals with diagnoses of functional gastrointestinal disorders (FGIDs) before diagnoses of mood or anxiety disorders (gut to brain), and vice versa (brain to gut). METHODS: We collected data from a retrospective study of 4966 patients diagnosed with a FGID (irritable bowel syndrome, dyspepsia, or constipation) and mood or anxiety disorder at general practices in the United Kingdom (health care seekers) over an average period of 13...
January 10, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28080108/the-brief-problem-monitor-parent-form-bpm-p-a-short-version-of-the-child-behavior-checklist-psychometric-properties-in-spanish-6-to-8-year-old-children
#12
Eva Penelo, Núria de la Osa, José Blas Navarro, Josep Maria Domènech, Lourdes Ezpeleta
We provide the first validation data on the Spanish version of the Brief Problem Monitor-Parent form (BPM-P), a recently developed abbreviated version of the 120-item Child Behavior Checklist for Ages 6 to 18 (CBCL/6-18) in young schoolchildren. Parents of a community sample of 521 children aged 6-8 answered the CBCL/6-18 yearly, and the 19 BPM-P items were examined; parents also provided different measures of psychopathology. Confirmatory factor analysis of the expected 3-factor model (attention, externalizing, and internalizing) showed adequate fit (root mean square error of approximation, RMSEA ≤ ...
January 12, 2017: Psychological Assessment
https://www.readbyqxmd.com/read/28078633/benzodiazepine-use-and-risk-of-developing-alzheimer-s-disease-a-case-control-study-based-on-swiss-claims-data
#13
Fabienne A Biétry, Alena M Pfeil, Oliver Reich, Matthias Schwenkglenks, Christoph R Meier
BACKGROUND: A possible association between benzodiazepine use and Alzheimer's disease (AD) has been hypothesized in previous studies. OBJECTIVES: Using claims data from the Helsana Group, a large Swiss health insurance provider, we examined the association between previous benzodiazepine use and the risk of AD. METHODS: We conducted a matched case-control study and identified 1438 incident AD cases between 2013 and 2014 based on recorded first-time use of drugs used to treat AD [i...
January 11, 2017: CNS Drugs
https://www.readbyqxmd.com/read/28077750/the-association-between-neurocysticercosis-and-hippocampal-atrophy-is-related-to-age
#14
Oscar H Del Brutto, Naoum P Issa, Perla Salgado, Victor J Del Brutto, Mauricio Zambrano, Julio Lama, Héctor H García
Neurocysticercosis (NCC) has been associated with hippocampal atrophy, but the prevalence and pathogenic mechanisms implicated in this relationship are unknown. Using a population-based, case-control study design, residents in a rural village (Atahualpa) aged ≥ 40 years with calcified NCC were identified as cases and paired to NCC-free individuals (control subjects) matched by age, sex, and level of education. Cases and control subjects underwent magnetic resonance imaging for hippocampal rating according to the Scheltens' scale for medial temporal atrophy and were interviewed to identify those with a clinical seizure disorder...
January 11, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28074329/dietary-adequacy-of-egyptian-children-with-autism-spectrum-disorder-compared-to-healthy-developing-children
#15
Nagwa A Meguid, Mona Anwar, Geir Bjørklund, Adel Hashish, Salvatore Chirumbolo, Maha Hemimi, Eman Sultan
Although the etiology and pathology of autism spectrum disorder (ASD) is still poorly understood, a number of environmental, anthropological, neurobiological and genetic factors have been related to the pathophysiology of ASD, even the impact of oxidative stress response related to the environment and nutrition intake. Usual recommended dietary habits are based on the combination of behavioral and dietary or nutraceutical interventions together with pharmacotherapy. Investigations about a reliable relationship between diet and ASD are still lacking...
January 10, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28073032/diabetes-mellitus-and-first-episode-mania-associated-with-cardiovascular-diseases-in-patients-with-older-age-bipolar-disorder
#16
Pao-Huan Chen, Chi-Kang Chang, Shuo-Ju Chiang, Yen-Kuang Lin, Shang-Ying Tsai, Shou-Hung Huang
Patients with bipolar disorder (BD) are at high risk for developing cardiovascular diseases (CVDs) during aging process. However, investigations are lacking regarding the risk factors for CVDs specific to BD patients. The aim of this study was to examine the relationship between CVDs and traditional risk factors in association with the characteristics of BD in older age. Totally, we recruited 124 patients with BD-I (DSM-IV) who had at least one psychiatric admission and cardiologist-confirmed CVD diagnosis (ICD-9 code 401-414) at mean age of 61...
January 2, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28072568/disorders-of-sex-development
#17
Wieland Kiess, Melanie Penke, Jürgen Kratzsch, Roland Pfaeffle
No abstract text is available yet for this article.
January 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28071936/concussion-baseline-testing-preexisting-factors-symptoms-and-neurocognitive-performance
#18
Eric Hall, Jordan Cottle, Caroline Ketcham, Kirtida Patel, Kenneth P Barnes
CONTEXT:  Neurocognitive test scores are often considered an important aspect of concussion management. To best use these data, clinicians must understand potential factors that may influence baseline performance on these tests. OBJECTIVE:  To determine preexisting factors that may influence performance on the Immediate Post-Concussion Assessment and Cognitive Test (ImPACT). DESIGN:  Cross-sectional study. SETTING:  Research laboratory...
January 10, 2017: Journal of Athletic Training
https://www.readbyqxmd.com/read/28070801/a-comparison-of-sexual-function-in-women-with-polycystic-ovary-syndrome-pcos-whose-mothers-had-pcos-during-their-pregnancy-period-with-those-without-pcos
#19
Mahsa Noroozzadeh, Fahimeh Ramezani Tehrani, Mahnaz Bahri Khomami, Fereidoun Azizi
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women during reproductive ages. Clinical symptoms associated with PCOS, such as hirsutism, acne, alopecia, obesity, and infertility, may lead to emotional morbidity and then impaired sexual function in those affected. During intrauterine development, the fetus may program the development of diseases during adulthood. In this study, we aimed to examine sexual function in women with PCOS, exposed to maternal androgen excess during their prenatal life compared to non-exposed PCOS patients...
January 9, 2017: Archives of Sexual Behavior
https://www.readbyqxmd.com/read/28060873/assessment-of-anterior-cingulate-cortex-acc-and-left-cerebellar-metabolism-in-asperger-s-syndrome-with-proton-magnetic-resonance-spectroscopy-mrs
#20
Aya Goji, Hiromichi Ito, Kenji Mori, Masafumi Harada, Sonoka Hisaoka, Yoshihiro Toda, Tatsuo Mori, Yoko Abe, Masahito Miyazaki, Shoji Kagami
PURPOSE: Proton magnetic resonance spectroscopy (1H MRS) is a noninvasive neuroimaging method to quantify biochemical metabolites in vivo and it can serve as a powerful tool to monitor neurobiochemical profiles in the brain. Asperger's syndrome (AS) is a type of autism spectrum disorder, which is characterized by impaired social skills and restrictive, repetitive patterns of interest and activities, while intellectual levels and language skills are relatively preserved. Despite clinical aspects have been well-characterized, neurometabolic profiling in the brain of AS remains to be clear...
2017: PloS One
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