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https://www.readbyqxmd.com/read/28333849/autism-spectrum-disorder-in-males-with-sex-chromosome-aneuploidy-xxy-klinefelter-syndrome-xyy-and-xxyy
#1
Nicole R Tartaglia, Rebecca Wilson, Judith S Miller, Jessica Rafalko, Lisa Cordeiro, Shanlee Davis, David Hessl, Judith Ross
OBJECTIVE: Neurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter syndrome, XYY, XXYY) include symptoms seen in autism spectrum disorder (ASD), such as language impairments and social difficulties. We aimed to: (1) evaluate ASD characteristics in research cohorts of SCA males under DSM-IV compared to DSM-5 criteria, and (2) analyze factors associated with ASD diagnoses in SCA. METHODS: Evaluation of participants with XXY/KS (n=20), XYY (n=57) and XXYY (n=21) included medical history, cognitive/adaptive testing, Social Communication Questionnaire, Social Responsiveness Scale, Autism Diagnostic Observation Schedule, Autism Diagnostic Interview-Revised, and DSM ASD criteria...
March 21, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28326560/sex-chromosome-aneuploidy-detection-by-non-invasive-prenatal-testing-helpful-or-hazardous
#2
Rosemary E Reiss, Marie Discenza, Judith Foster, Lori Dobson, Louise Wilkins-Haug
OBJECTIVES: To assess the incidence of sex chromosome aneuploidy (SCA) predicted by non-invasive prenatal testing (NIPT), assess test performance, and compare it with nuchal translucency (NT) screening among patients seen in our prenatal diagnosis center. METHODS: We identified suspected cases of SCA by reviewing results from all NIPT samples sent from our center to commercial laboratories offering analysis by cell-free DNA between December 1, 2012 to July 31, 2015...
March 21, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28326509/the-steroid-response-to-human-chorionic-gonadotropin-hcg-stimulation-in-men-with-klinefelter-syndrome-does-not-change-using-immunoassay-or-mass-spectrometry
#3
L Roli, D Santi, S Belli, S Tagliavini, S Cavalieri, M C De Santis, E Baraldi, F Fanelli, M Mezzullo, A R Granata, U Pagotto, R Pasquali, V Rochira, C Carani, M Simoni, T Trenti
PURPOSE: Liquid-chromatography tandem mass-spectrometry (LC-MS/MS) was developed in parallel to Immunoassays (IAs) and today is proposed as the "gold standard" for steroid assays. Leydig cells of men with Klinefelter syndrome (KS) are able to respond to human chorionic gonadotropin (hCG) stimulation, even if testosterone (T) production was impaired. The aim was to evaluate how results obtained by IAs and LC-MS/MS can differently impact on the outcome of a clinical research on gonadal steroidogenesis after hCG stimulation...
March 21, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28318194/-craniopharyngioma-and-klinefelter-syndrome-during-the-pubertal-transition-a-diagnostic-challenge
#4
Yamile Mocarbel, Graciela Arébalo de Cross, Marie C Lebrethon, Albert Thiry, Albert Beckersd, Hernan Valdes-Socin
Craniopharyngioma is the most common pituitary tumor in childhood. It can compromise the pubertal development because of its evolution or treatment. Syndrome of Klinefelter is the most common cause of hipergonadotrophic hypogonadism in males. The concomitant presentation of both entities is extremely low (1/109) and the pathophysiological association is questionned. We present the case of a 18-year-old Belgian patient. He had a diagnosis of craniopharyngioma in childhood and he presented with panhypopituitarism after radiotherapy and surgical treatment...
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28293480/the-role-of-genes-intelligence-personality-and-social-engagement-in-cognitive-performance-in-klinefelter-syndrome
#5
Anne Skakkebæk, Philip J Moore, Anders Degn Pedersen, Anders Bojesen, Maria Krarup Kristensen, Jens Fedder, Peter Laurberg, Jens Michael Hertz, John Rosendahl Østergaard, Mikkel Wallentin, Claus Højbjerg Gravholt
INTRODUCTION: The determinants of cognitive deficits among individuals with Klinefelter syndrome (KS) are not well understood. This study was conducted to assess the impact of general intelligence, personality, and social engagement on cognitive performance among patients with KS and a group of controls matched for age and years of education. METHODS: Sixty-nine patients with KS and 69 controls were assessed in terms of IQ, NEO personality inventory, the Autism Spectrum Quotient (AQ) scale, and measures of cognitive performance reflecting working memory and executive function...
March 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28285751/androgen-treatment-effects-on-motor-function-cognition-and-behavior-in-boys-with-klinefelter-syndrome
#6
Judith L Ross, Harvey Kushner, Karen Kowal, Martha Bardsley, Shanlee Davis, Allan L Reiss, Nicole Tartaglia, David Roeltgen
OBJECTIVES: To examine the effects of early low-dose androgen on motor, cognitive, and behavioral function in prepubertal boys with Klinefelter syndrome (47,XXY). STUDY DESIGN: Double-blind trial of 84 boys, ages 4-12 years, randomized to oxandrolone (Ox; 0.06 mg/kg daily; n = 43) or placebo (Pl; n = 41) for 24 months. Standardized assessments were performed at baseline and every 12 months for 24 months evaluating motor, cognitive, and behavioral function...
March 10, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28284085/detection-of-turner-syndrome-using-x-chromosome-inactivation-specific-differentially-methylated-cpg-sites-a-pilot-study
#7
Qiang Zhang, Xiaohong Guo, Tian Tian, Teng Wang, Qiaoli Li, Lei Wang, Yun Liu, Qinghe Xing, Lin He, Xinzhi Zhao
BACKGROUND: Early diagnosis of Turner syndrome (TS) may improve preventive measures and treatment. X-chromosome inactivation specific differentially methylated CpG sites (XIDMSs) that are high methylated in inactive X chromosomes (Xi) and unmethylated in active X chromosomes (Xa) may be potential makers for TS detection. METHODS: The candidate XIDMSs were screened from 9 male and 12 female DNA samples with normal karyotypes using the Illumina 450k array and validated by bisulfite sequencing PCR and pyrosequencing assay...
March 8, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28275551/combination-of-klinefelter-syndrome-and-celiac-disease-a-case-report
#8
Ahmed Ramiz Baykan
Klinefelter syndrome (KS) is a chromosomal abnormality characterised by a 47, XXY karyotype associated with hypogonadism and infertility. We present a case of a 20-year-old patient who applied to our clinic because of growth deficiency and was concurrently diagnosed with Klinefelter syndrome and celiac disease.
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28258556/klinefelter-syndrome-cardiovascular-abnormalities-and-metabolic-disorders
#9
REVIEW
A E Calogero, V A Giagulli, L M Mongioì, V Triggiani, A F Radicioni, E A Jannini, D Pasquali
Klinefelter syndrome (KS) is one of the most common genetic causes of male infertility. This condition is associated with much comorbidity and with a lower life expectancy. The aim of this review is to explore more in depth cardiovascular and metabolic disorders associated to KS. KS patients have an increased risk of cerebrovascular disease (standardized mortality ratio, SMR, 2.2; 95% confidence interval, CI, 1.6-3.0), but it is not clear whether the cause of the death is of thrombotic or hemorrhagic nature...
March 3, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28249771/effects-of-the-copy-number-of-ribosomal-genes-genes-for-rrna-on-viability-of-subjects-with-chromosomal-abnormalities
#10
N A Lyapunova, L N Porokhovnik, N V Kosyakova, I A Mandron, T G Tsvetkova
The number of active ribosomal genes (AcRG) was evaluated in 172 carriers of chromosomal abnormalities (CA) such as Down's syndrome (DS), Robertsonian translocations (RT), Klinefelter's and Turner's syndromes, trisomy Х, disomy Y, and various structural CA. In controls (n=318), AcRG dosage varied from 119 to 190 copies with a mean of 151 copies per diploid genome. In CA carriers, except for DS newborns, AcRG dosage was not beyond these limits. As shown previously, only within these limits cellular homeostasis and organism's viability can be supported, while genomes beyond these limits are eliminated by embryonic loss...
February 26, 2017: Gene
https://www.readbyqxmd.com/read/28228662/risk-of-gynecomastia-and-breast-cancer-associated-with-the-use-of-5-alpha-reductase-inhibitors-for-benign-prostatic-hyperplasia
#11
Katrina Wilcox Hagberg, Hozefa A Divan, Shona C Fang, J Curtis Nickel, Susan S Jick
BACKGROUND: Clinical trial results suggest that 5-alpha reductase inhibitors (5ARIs) for the treatment of benign prostatic hyperplasia (BPH) may increase the risk of gynecomastia and male breast cancer, but epidemiological studies have been limited. PATIENTS AND METHODS: We conducted a cohort study with nested case-control analyses using the UK Clinical Practice Research Datalink. We identified men diagnosed with BPH who were free from Klinefelter syndrome, prostate, genital or urinary cancer, prostatectomy or orchiectomy, or evidence of gynecomastia or breast cancer...
2017: Clinical Epidemiology
https://www.readbyqxmd.com/read/28217965/copy-number-variations-in-testicular-maturation-arrest
#12
A Halder, P Kumar, M Jain, V K Iyer
Testicular maturation arrest is characterized by interruption of germ cell development and differentiation. Genetic factors play important role in the causation of human disease, including male infertility. The objective was to study copy number variations in testicular maturation arrest using single nucleotide polymorphism (SNP) microarray technique. Conventional cytogenetics, targeted fluorescence in situ hybridization (FISH) and sequence-tagged site (STS) polymerase chain reaction (PCR) were used to confirm some of the SNP microarray findings...
February 19, 2017: Andrology
https://www.readbyqxmd.com/read/28210640/muscle-weakness-a-misleading-presentation-in-children-with-distinctive-syndromic-entities-clinical-case-reports
#13
Ali Al Kaissi, Sergey Ryabykh, Polina Ochirova, Vladimir Kenis, Jochen G Hofstätter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
Marked ligamentous hyperlaxity and muscle weakness/wasting associated with awkward gait are the main deficits confused with the diagnosis of myopathy. Seven children (6 boys and 1 girl with an average age of 8 years) were referred to our department because of diverse forms of skeletal abnormalities. No definitive diagnosis was made, and all underwent a series of sophisticated investigations in other institutes in favor of myopathy. We applied our methodology through the clinical and radiographic phenotypes followed by targeted genotypic confirmation...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28190550/overcoming-nursing-barriers-to-intensive-care-unit-early-mobilisation-a-quality-improvement-project
#14
Oluwatobi O Hunter, Elisabeth L George, Dianxu Ren, Douglas Morgan, Margaret Rosenzweig, Patricia Klinefelter Tuite
OBJECTIVES: To increase adherence with intensive care unit mobility by developing and implementing a mobility training program that addresses nursing barriers to early mobilisation. DESIGN: An intensive care unit mobility training program was developed, implemented and evaluated with a pre-test, immediate post-test and eight-week post-test. Patient mobility was tracked before and after training. SETTING: A ten bed cardiac intensive care unit...
February 9, 2017: Intensive & Critical Care Nursing: the Official Journal of the British Association of Critical Care Nurses
https://www.readbyqxmd.com/read/28137251/autism-spectrum-disorder-associated-with-49-xyyyy-case-report-and-review-of-the-literature
#15
Caroline Demily, Alice Poisson, Elodie Peyroux, Valérie Gatellier, Alain Nicolas, Caroline Rigard, Caroline Schluth-Bolard, Damien Sanlaville, Massimiliano Rossi
BACKGROUND: Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalence of males with more than one extra sex chromosome (e.g. 48,XXYY or 48,XXXY) is less common. However, the literature provides little information about the cognitive and behavioural phenotype and the natural history of the disease. We report the clinical, neurocognitive, social cognitive and psychiatric characterization of a patient with 49,XYYYY syndrome...
January 31, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28096991/premature-pubarche-in-a-child-with-abnormal-3%C3%AE-hydroxysteroid-dehydrogenase-function-and-klinefelter-syndrome-the-intriguing-relationship-between-androgen-deficiency-and-excess
#16
Michele Gortakowski, Rushika Conroy, Luisa Aguiar, Holley Allen
Disorders of androgen excess may coexist with disorders of androgen deficiency, such as Klinefelter syndrome, and can create diagnostic and therapeutic challenges.
January 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28090675/cross-sectional-study-shows-that-impaired-bone-mineral-status-and-metabolism-are-found-in-non-mosaic-triple-x-syndrome
#17
Stefano Stagi, Mariarosaria Di Tommaso, Perla Scalini, Elena Sandini, Fabrizio Masoni, Francesco Chiarelli, Alberto Verrotti, Sabrina Giglio, Silvia Romano, Maurizio de Martino
AIM: The effect of a supernumerary X chromosome on bones has not been reported and this study evaluated bone mineral status and metabolism in non-mosaic triple X syndrome. METHODS: This cross-sectional study comprised 19 girls, with a median age of 10.9 years, with nonmosaic triple X syndrome and a control group matched for age and body size. We studied ionised and total calcium, phosphate, parathyroid hormone (PTH), 25-hydroxyvitamin D (25(OH)D), 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase levels and urinary deoxypyridinoline concentrations...
January 15, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28062178/testicular-shear-wave-elastography-in-normal-and-infertile-men-a-prospective-study-on-601-patients
#18
Laurence Rocher, Aline Criton, Jean-Luc Gennisson, Vincent Izard, Sophie Ferlicot, Mickael Tanter, Gerard Benoit, Marie France Bellin, Jean-Michel Correas
Our aim in the study described here was to prospectively establish the feasibility of using and reproducibility of testicular shear-wave elastography in the assessment of testicular stiffness in 62 normal patients and 539 infertile men with obstructive azoospermia (OA), non-Klinefelter syndrome non-obstructive azoospermia (non-KS NOA), Klinefelter syndrome NOA (KS NOA), oligoasthenoteratozoospermia (OAT) or a left varicocele. The feasibility rate was 96.9%, with an intra-class correlation coefficient of 0.85 (95% confidence interval: 0...
April 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/28061524/prevalence-of-small-testicular-hyperechogenic-foci-in-subgroups-of-382-non-vasectomized-azoospermic-men-a-retrospective-cohort-study
#19
J Fedder
Testicular hyperechogenic foci (THF) are associated with Klinefelter's syndrome, cryptorchidism, infertility, and testicular germ cell neoplasia. The aims of the study were to evaluate THF in relation to etiology of azoospermia and to Sertoli cell dysfunction. The structures inside the scrotum of consecutive non-vasectomized, azoospermic were examined by ultrasonography, and hormone (FSH, LH, testosterone, and prolactin), and genetic analyses (karyotype, Y microdeletions, and CFTR mutations) were performed...
March 2017: Andrology
https://www.readbyqxmd.com/read/28029029/obesity-and-hyperglycemia-in-korean-men-with-klinefelter-syndrome-the-korean-endocrine-society-registry
#20
Seung Jin Han, Kyung Soo Kim, Wonjin Kim, Jung Hee Kim, Yong Ho Lee, Ji Sun Nam, Ji A Seo, Bu Kyung Kim, Jihyun Lee, Jin Ook Chung, Min Hee Kim, Tae Seo Sohn, Han Seok Choi, Seong Bin Hong, Yoon Sok Chung
BACKGROUND: The aim of this study was to investigate the prevalence of obesity in Korean men with Klinefelter syndrome (KS) and the associated risk factors for obesity and hyperglycemia. METHODS: Data were collected retrospectively from medical records from 11 university hospitals in Korea between 1994 and 2014. Subjects aged ≥18 years with newly diagnosed KS were enrolled. The following parameters were recorded at baseline before treatment: chief complaint, height, weight, fasting glucose level, lipid panel, blood pressure, testosterone, luteinizing hormone, follicle-stimulating hormone, karyotyping patterns, and history of hypertension, diabetes, and dyslipidemia...
December 2016: Endocrinology and Metabolism
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