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Disorder of sex development

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https://www.readbyqxmd.com/read/29454168/genetic-and-environmental-influences-on-pubertal-hormones-in-human-hair-across-development
#1
Andrew D Grotzinger, Daniel A Briley, Laura E Engelhardt, Frank D Mann, Megan W Patterson, Jennifer L Tackett, Elliot M Tucker-Drob, K Paige Harden
Puberty is a complex biopsychosocial process that can affect an array of psychiatric and medical disorders emerging in adolescence. Although the pubertal process is driven by neuroendocrine changes, few quantitative genetic studies have directly measured puberty-relevant hormones. Hair samples can now be assayed for accumulation of hormones over several months. In contrast to more conventional salivary measures, hair measures are not confounded by diurnal variation or hormonal reactivity. In an ethnically and socioeconomically diverse sample of 1286 child and adolescent twins and multiples from 672 unique families, we estimated genetic and environmental influences on hair concentrations of testosterone, DHEA, and progesterone across the period of 8-18 years of age...
February 12, 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29453202/management-of-endocrine-disease-hyperandrogenic-states-in-women-pitfalls-in-laboratory-diagnosis
#2
Michel Pugeat, Ingrid Plotton, Aude Brac de la Perrière, Gerald Raverot, Henri Déchaud, Véronique Raverot
Measuring total testosterone level is the first-line approach in assessing androgen excess in women. The main pitfalls in measuring testosterone relate to its low concentration and to the structural similarity between circulating androgens and testosterone, requiring accurate techniques with high specificity and sensitivity. These goals can be achieved by immunoassay using a specific anti-testosterone monoclonal antibody, ideally after an extraction step. Liquid chromatography coupled to tandem mass spectrometry (LC-MS/MS) will be commonly used for measuring testosterone, providing optimal accuracy with a low limit of detection...
February 16, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29451303/sex-specific-manifestation-of-genetic-risk-for-attention-deficit-hyperactivity-disorder-in-the-general-population
#3
Joanna Martin, Mark J Taylor, Mina Rydell, Lucy Riglin, Olga Eyre, Yi Lu, Sebastian Lundström, Henrik Larsson, Anita Thapar, Paul Lichtenstein
BACKGROUND: Attention deficit hyperactivity disorder (ADHD) is more commonly diagnosed in males than in females. A growing body of research suggests that females with ADHD might be underdiagnosed or receive alternative diagnoses, such as anxiety or depression. Other lines of reasoning suggest that females might be protected from developing ADHD, requiring a higher burden of genetic risk to manifest the disorder. METHODS: We tested these two hypotheses, using common variant genetic data from two population-based cohorts...
February 16, 2018: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/29449281/mri-features-of-aquaporin-4-antibody-positive-longitudinally-extensive-transverse-myelitis-insights-into-the-diagnosis-of-neuromyelitis-optica-spectrum-disorders
#4
C G Chee, K S Park, J W Lee, H W Ahn, E Lee, Y Kang, H S Kang
BACKGROUND AND PURPOSE: Longitudinally extensive transverse myelitis is a well-documented spinal manifestation of neuromyelitis optica spectrum disorders, however, other forms of nontumorous myelopathy can also manifest as longitudinally extensive transverse myelitis. Our aim was to evaluate the MR imaging features of aquaporin-4 antibody-positive longitudinally extensive transverse myelitis, which is strongly associated with neuromyelitis optica spectrum disorders. MATERIALS AND METHODS: We evaluated cervicomedullary junction involvement, cord expansion ratios, bright spotty lesions, the number of involved segments, skipped lesions, enhancement patterns, and axial distribution patterns using spinal MR imaging of 41 patients with longitudinally extensive transverse myelitis who underwent aquaporin-4 antibody testing...
February 15, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29439943/cognitive-style-and-mobile-e-learning-in-emergent-otorhinolaryngology-head-and-neck-surgery-disorders-for-millennial-undergraduate-medical-students-randomized-controlled-trial
#5
Li-Ang Lee, Yi-Ping Chao, Chung-Guei Huang, Ji-Tseng Fang, Shu-Ling Wang, Cheng-Keng Chuang, Chung-Jan Kang, Li-Jen Hsin, Wan-Ni Lin, Tuan-Jen Fang, Hsueh-Yu Li
BACKGROUND: Electronic learning (e-learning) through mobile technology represents a novel way to teach emergent otorhinolaryngology-head and neck surgery (ORL-HNS) disorders to undergraduate medical students. Whether a cognitive style of education combined with learning modules can impact learning outcomes and satisfaction in millennial medical students is unknown. OBJECTIVE: The aim of this study was to assess the impact of cognitive styles and learning modules using mobile e-learning on knowledge gain, competence gain, and satisfaction for emergent ORL-HNS disorders...
February 13, 2018: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/29439776/clinical-risk-factors-for-the-development-of-tardive-dyskinesia
#6
REVIEW
Marco Solmi, Giorgio Pigato, John M Kane, Christoph U Correll
BACKGROUND: Tardive dyskinesia (TD) is a severe condition that can affect almost 1 out of 4 patients on current or previous antipsychotic treatment, including both first-generation antipsychotics (FGAs) and second-generation antipsychotics (SGAs). While two novel vesicular monoamine transporter inhibitors, deutetrabenazine and valbenazine, have shown acute efficacy for TD, the majority of patients do not remit, and TD appears to recur once treatment is withdrawn. Hence, prevention of TD remains a crucial goal...
February 5, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29439271/normative-basal-values-of-hormones-and-proteins-of-gonadal-and-adrenal-functions-from-birth-to-adulthood
#7
Flaminia Fanelli, Federico Baronio, Rita Ortolano, Marco Mezzullo, Alessandra Cassio, Uberto Pagotto, Antonio Balsamo
In clinical practice, it is fundamental to compare the results of hormonal examinations obtained in the laboratory with reliable reference values. This is particularly difficult when faced with rare conditions, such as disorders of sex development, where not routinely assayed peptide hormones as well as intermediate steroid metabolites are often needed and local reliable reference values are not available. There are considerable differences among techniques and assays used in clinical and research laboratories...
February 14, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29435580/association-of-prenatal-ultrasonography-and-autism-spectrum-disorder
#8
N Paul Rosman, Rachel Vassar, Gheorghe Doros, James DeRosa, Allison Froman, Audrey DiMauro, Sherry Santiago, Jodi Abbott
Importance: The prevalence of autism spectrum disorder (ASD) has been increasing rapidly, with current estimates of 1 in 68 children affected. Simultaneously, use of prenatal ultrasonography has increased substantially, with limited investigation into its safety and effects on brain development. Animal studies have demonstrated that prenatal ultrasonography can adversely affect neuronal migration. Objective: To quantify prenatal ultrasound exposure by the frequency, timing, duration, and strength of ultrasonographic scans in children with later ASD, developmental delay, and typical development...
February 12, 2018: JAMA Pediatrics
https://www.readbyqxmd.com/read/29434011/a-multidimensional-tool-based-on-the-ehealth-literacy-framework-development-and-initial-validity-testing-of-the-ehealth-literacy-questionnaire-ehlq
#9
Lars Kayser, Astrid Karnoe, Dorthe Furstrand, Roy Batterham, Karl Bang Christensen, Gerald Elsworth, Richard H Osborne
BACKGROUND: For people to be able to access, understand, and benefit from the increasing digitalization of health services, it is critical that services are provided in a way that meets the user's needs, resources, and competence. OBJECTIVE: The objective of the study was to develop a questionnaire that captures the 7-dimensional eHealth Literacy Framework (eHLF). METHODS: Draft items were created in parallel in English and Danish. The items were generated from 450 statements collected during the conceptual development of eHLF...
February 12, 2018: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/29430384/exercise-as-a-prevention-for-substance-use-disorder-a-review-of-sex-differences-and-neurobiological-mechanisms
#10
Wendy J Lynch, Andrea M Robinson, Jean Abel, Mark A Smith
Purpose of Review: This report provides an update on clinical and preclinical findings for the efficacy of exercise to prevent substance use disorder with a focus on recent evidence for sex differences and neurobiological mechanisms. Recent Findings: Exercise/physical activity is associated with decreased drug use in humans. Preclinical results further indicate that exercise decreases vulnerability to drug use and the development of features of substance use disorder, and suggest that females have an enhanced sensitivity to its reward-substitution effects...
December 2017: Current Addiction Reports
https://www.readbyqxmd.com/read/29429640/neurotoxicity-of-manganese-indications-for-future-research-and-public-health-intervention-from-the-manganese-2016-conference
#11
EDITORIAL
Roberto G Lucchini, Michael Aschner, Philip J Landrigan, Joan M Cranmer
Manganese is an essential trace element, but also at high levels a neurotoxicant. Manganese neurotoxicity has been extensively studied since its discovery in highly exposed workers. The International conference MANGANESE2016 held at the Icahn School of Medicine at Mount Sinai in New York provided relevant updates on manganese research in relation to both occupational and environmental exposures. Epidemiological, toxicological and cellular studies reported at the conference have yielded new insights on mechanisms of manganese toxicity and on opportunities for preventive intervention...
January 2018: Neurotoxicology
https://www.readbyqxmd.com/read/29429446/congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency-in-south-africa
#12
Y Ganie, C Aldous, Y Balakrishna, R Wiersma
BACKGROUND: Congenital adrenal hyperplasia (CAH) caused by deficiency of the 21-hydoxylase (21-OH) enzyme is the most common form of CAH worldwide. OBJECTIVE: To evaluate the prevalence of CAH due to 21-OH deficiency, and its clinical presentation and biochemical profiles in affected children. METHODS: We performed a retrospective subset analysis of 44 children with confirmed CAH. RESULTS: All the children had classic CAH...
February 1, 2018: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/29428977/sleep-disorders-associated-with-risk-of-rheumatoid-arthritis
#13
Wei-Sheng Chung, Cheng-Li Lin
BACKGROUND: Immune disorders impair sleep quality and sleep disorders (SDs) may derange immune function. PURPOSE: The study evaluated the incidence and risk of rheumatoid arthritis (RA) in patients with SDs using a nationwide cohort. METHODS: We recognized the patients with SDs from 1998 to 2002 by using the Taiwan National Health Insurance Research Database. One control patient for each SD patient was randomly selected and matched based on the proportion of age, sex, and index year...
February 10, 2018: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/29428194/malignant-transformation-of-taiwanese-patients-with-oral-leukoplakia-a-nationwide-population-based-retrospective-cohort-study
#14
Tung-Yuan Wang, Yu-Wei Chiu, Yi-Tzu Chen, Yu-Hsun Wang, Hui-Chieh Yu, Chuan-Hang Yu, Yu-Chao Chang
BACKGROUND/PURPOSE: Oral leukoplakia (OL) is one of the clinically diagnosed oral potentially malignant disorders (OPMDs) with an increased risk of oral cancer development. In this study, we investigated the malignant transformation of OL in Taiwanese population. METHODS: A retrospective cohort study was analyzed from Taiwan's National Health Insurance Research Database. A comparison cohort was randomly frequency-matched with the OL cohort according to age, sex, and index year...
February 7, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/29428127/dyslipidemia-steatohepatitis-and-atherogenesis-in-lipodystrophic-apoe-deficient-mice-with-seipin-deletion
#15
Jiawei Liao, Xuejing Liu, Mingming Gao, Mengyu Wang, Yuhui Wang, Feng Wang, Wei Huang, George Liu
SEIPIN is an integral membrane protein located in the endoplasmic reticulum, regulating adipocytes differentiation and lipolysis. Deficiency of Seipin in mice causes severe general lipodystrophy, accompanied by insulin resistance, postprandial hypertriglyceridemia and steatohepatitis. In atherosclerosis-prone Ldlr null (Ldlr -/- ) mice, lipodystrophy caused by Seipin deletion even led to severe hypercholesteremia and accelerated atherogenesis, when challenged with an atherogenic diet. However, whether the phenotypes observed in Seipin -/- Ldlr -/- mice were a common consequence due to lipodystrophy, rather than genetic background restricted or diet dependent, was unknown...
March 30, 2018: Gene
https://www.readbyqxmd.com/read/29427184/polyneuropathy-and-myopathy-in-beta-thalassemia-major-patients
#16
P Nemtsas, M Arnaoutoglou, V Perifanis, E Koutsouraki, G Spanos, N Arnaoutoglou, P Chalkia, D Pantelidou, A Orologas
The thalassemias are the most common single gene disorder in the world. Nowadays, the average life expectancy of patients in developed countries has increased significantly, while, there was an increase of complications. We aimed to investigate peripheral neuropathy and myopathy in this patient group using a neurophysiological study. We performed nerve conduction studies and electromyography of upper and lower extremities on 36 beta-thalassemia major (β-thal) patients. The electrophysiological findings were correlated with demographic data and laboratory parameters of the disease...
February 9, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29425919/the-visible-burrow-system-a-behavioral-paradigm-to-assess-sociability-and-social-withdrawal-in-btbr-and-c57bl-6j-mice-strains
#17
Maria Bove, Kevin Ike, Adriaan Eldering, Bauke Buwalda, Sietse F de Boer, Maria Grazia Morgese, Stefania Schiavone, Vincenzo Cuomo, Luigia Trabace, Martien J H Kas
Disrupted sociability and consequent social withdrawal are (early) symptoms of a wide variety of neuropsychiatric diseases, such as schizophrenia, autism spectrum disorders, depressive disorders and Alzheimer's disease. The paucity of objective measures to translationally assess social withdrawal characteristics has been an important limitation to study this behavioral phenotype, both in human and rodents. The aim of the present study was to investigate sociability and social withdrawal in rodents using an ethologically valid behavioral paradigm, the Visible Burrow System (VBS)...
February 6, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29424285/shifting-syndromes-sex-chromosome-variations-and-intersex-classifications
#18
David Andrew Griffiths
The 2006 'Consensus statement on management of intersex disorders' recommended moving to a new classification of intersex variations, framed in terms of 'disorders of sex development' or DSD. Part of the rationale for this change was to move away from associations with gender, and to increase clarity by grounding the classification system in genetics. While the medical community has largely accepted the move, some individuals from intersex activist communities have condemned it. In addition, people both inside and outside the medical community have disagreed about what should be covered by the classification system, in particular whether sex chromosome variations and the related diagnoses of Turner and Klinefelter's syndromes should be included...
February 2018: Social Studies of Science
https://www.readbyqxmd.com/read/29422636/childhood-epilepsy-and-adhd-comorbidity-in-an-indian-tertiary-medical-center-outpatient-population
#19
Anita Choudhary, Sheffali Gulati, Rajesh Sagar, Naveen Sankhyan, Kam Sripada
This study aimed to assess the prevalence of Attention Deficit Hyperactivity Disorder (ADHD) and its characteristics and risk factors in children with epilepsy at a tertiary medical center in New Delhi. Children with active epilepsy, aged 6 to 12 years, were assessed for ADHD using DSM-IV-TR criteria. Epilepsy and psychiatric characteristics, sociodemographic indicators, and use of antiepileptic drugs were analyzed for differences between the ADHD and non-ADHD groups. Among the 73 children with epilepsy, 23% (n = 17) had comorbid ADHD, of whom 59% (n = 10) had predominantly inattentive type, 35% (n = 6) combined type, and 6% (n = 1) predominantly hyperactive-impulsive type...
February 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29422239/disorders-of-puberty
#20
REVIEW
Charles Sultan, Laura Gaspari, Laurent Maimoun, Nicolas Kalfa, Françoise Paris
Over the past 20 years, a clear secular trend toward the earlier onset of puberty has been described. A better knowledge should help clinicians attempting to define both precocious and delayed puberty (PP and DP, respectively). The definition of PP for girls is the appearance of secondary sex characteristics development before the age of 8 years, while DP is based on the absence of thelarche at the age of 13 years. Regarding PP, one should clinically distinguish between true precocious puberty, i.e., complete or central PP, and incomplete PP, which refers to premature thelarche, premature pubarche, and isolated menarche...
November 14, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
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