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"Turner Syndrome"

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https://www.readbyqxmd.com/read/29774207/overview-of-social-cognitive-dysfunctions-in-rare-developmental-syndromes-with-psychiatric-phenotype
#1
REVIEW
Aurore Morel, Elodie Peyroux, Arnaud Leleu, Emilie Favre, Nicolas Franck, Caroline Demily
Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29770485/elongated-transverse-aortic-arch-%C3%A4-n-subjects-without-turner-syndrome-a-preliminary-computed-tomography-study
#2
B Ece, H Yiğit, E Ergün, P N Koşar
INTRODUCTION: The purpose of the present study was to investigate the presence of an elongated transverse aortic arch (ETA), which has been reported to be specific for Turner syndrome, in a population without Turner syndrome. MATERIALS AND METHODS: A set of 1012 patients (713 men, 299 women) under 40 years old, who underwent thoracic CT examination in our radiology department between July 2016 and December 2016, were included in the study. CT scans were performed by 16-slice scanners...
May 17, 2018: Clinical Anatomy
https://www.readbyqxmd.com/read/29769512/turner-s-syndrome-with-severe-coarctation-of-the-aorta-a-case-report
#3
N Sheikh, J Arzu
Cardiovascular abnormalities are frequently encountered in patients with Turner's syndrome. A 12-year-old girl with Turner's syndrome (TS) was referred from the endocrinology department for management of hypertension. After Echocardiography and CT angiography, we confirmed that she had severe coarctation of the aorta, just distal to the left subclavian artery. Due to high-pressure gradient in the coarct segment, in presence of hypertension, we made the decision for percutaneous intervention of coarctation of aorta...
April 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29760778/loss-of-dmrt1-gene-in-a-mos-45-xy-9-8-46-xy-r-9-29-47-xy-idic-r-9-%C3%A3-2-1-46-xy-idic-r-9-1-46-xy-1-female-presenting-with-short-stature
#4
Bagas A Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R L Batubara, Alida R Harahap, Nanis S Marzuki
Background: A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. Case presentation: This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29753544/psychosocial-characteristics-of-women-with-a-delayed-diagnosis-of-turner-syndrome
#5
Gabrielle E Reimann, Martha M Bernad Perman, Pei-Shu Ho, Rebecca A Parks, Leora E Comis
OBJECTIVES: To characterize the psychosocial profiles of adult women diagnosed with Turner syndrome before (early diagnosis) and at or after (late diagnosis) 13 years of age. STUDY DESIGN: Women with Turner syndrome ages 22 and older at evaluation (n = 110) participated in a cross-sectional study at the National Institutes of Health. Researchers performed nonparametric and logistic regression analyses to assess early and late diagnosis cohorts on measures of depression, substance use, and perceptions of competence and identity...
May 9, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29750770/genetic-characteristics-of-patients-with-congenital-hyperinsulinism
#6
Mary Ellen Vajravelu, Diva D De León
PURPOSE OF REVIEW: Congenital hyperinsulinism is the most common cause of persistent hypoglycemia in infants and children. Early and appropriate recognition and treatment of hypoglycemia is vital to minimize neurocognitive impairment. RECENT FINDINGS: There are at least 11 known monogenic forms of hyperinsulinism and several associated syndromes. Molecular diagnosis allows for prediction of the effectiveness of diazoxide and the likelihood of focal hyperinsulinism...
May 9, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29747617/pheochromocytoma-as-a-rare-cause-of-hypertension-in-a-46-x-i-x-q10-turner-syndrome-a-case-report-and-literature-review
#7
Ji Yeon Shin, Bo Hyun Kim, Young Keum Kim, Tae Hwa Kim, Eun Heui Kim, Min Jin Lee, Jong Ho Kim, Yun Kyung Jeon, Sang Soo Kim, In Joo Kim
BACKGROUND: Cardiovascular disease (CVD) presents the most serious health problems and contributes to the increased mortality in young women with Turner syndrome. Arterial hypertension in Turner syndrome patients is significantly more prevalent than that in a general age-matched control group. The aetiology of hypertension in Turner syndrome varies, even in the absence of cardiac anomalies and obvious structural renal abnormalities. Pheochromocytoma is an extremely rare cause among various etiologies for hypertension in patients with Turner syndrome...
May 10, 2018: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/29739732/inherited-deletion-of-1q-hyperparathyroidism-and-signs-of-y-chromosomal-influence-in-a-patient-with-turner-syndrome
#8
Alejandro F Siller, Alex Shimony, Marwan Shinawi, Ina Amarillo, Louis P Dehner, Katherine Semenkovich, Ana María Arbeláez
We report a detailed phenotypic, cytogenetic, and molecular characterization of a patient diagnosed prenatally with Turner syndrome (TS). In addition to having typical TS clinical characteristics such as a webbed neck, high arched palate, and coarctation of the aorta, the patient had features less frequently seen in TS, including recurrent parathyroid adenomas, growth along the 75th-90th centiles on the TS height curve despite a minimal treatment with growth hormone, behavioral problems, and evidence of gonadal dysgenesis with testicular-like structures, such as seminiferous tubules lined by Sertoli cells and a contiguous nodule of Leydig cells...
May 9, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29739177/anesthesia-management-in-a-case-of-turner-syndrome-with-anti-nmda-limbic-encephalitis-and-multiple-co-morbidities-for-repair-of-fracture-femur
#9
Bhavna Gupta, Munisha Agarwal, Rohan Sharma, Vandana Saith
No abstract text is available yet for this article.
May 9, 2018: Korean Journal of Anesthesiology
https://www.readbyqxmd.com/read/29732458/hepatocellular-carcinoma-virilization-and-hilus-cell-hyperplasia-in-a-girl-with-turner-syndrome
#10
Jennifer R Law, Sang Lee, Eizaburo Sasatomi, Christine E Bookhout, Julie Blatt
Patients with Turner syndrome (TS) are known to be at risk for excess androgen production and virilization associated with gonadoblastoma and Y chromosome mosaicism, and excess androgens are a risk factor for the development of hepatocellular carcinoma. However, virilization and hepatocellular carcinoma have not been described in a patient with TS. A 10-year-old with nonmosaic 45,X TS presented with clitoromegaly, accelerated linear growth velocity, advanced bone age, and elevated testosterone levels as well as a second occurrence of hepatocellular carcinoma...
May 1, 2018: Journal of the Endocrine Society
https://www.readbyqxmd.com/read/29731120/clinical-and-echocardiographic-prevalence-and-detection-of-congenital-and-acquired-cardiac-abnormalities-in-girls-and-women-with-the-turner-syndrome
#11
Anji T Yetman, Lois Starr, Jennifer Sanmann, Megan Wilde, Mary Murray, Jonathan W Cramer
The prevalence of congenital and acquired heart disease in patients with the Turner syndrome (TS) is based on historic cohorts who underwent imaging before the advent of modern day echocardiography. Recent small studies suggest a higher prevalence of cardiac defects. We reviewed clinical and echocardiographic data on 564 girls and women with TS to assess the prevalence of cardiac defects. Echocardiographic review on a subset of this population was performed to assess for diagnostic limitations of echocardiography in assessing for congenital and acquired defects in this patient cohort...
April 17, 2018: American Journal of Cardiology
https://www.readbyqxmd.com/read/29704077/executive-functions-in-children-and-adolescents-with-turner-syndrome-a-systematic-review-and-meta-analysis
#12
REVIEW
Claire Mauger, Céline Lancelot, Arnaud Roy, Régis Coutant, Nicole Cantisano, Didier Le Gall
Turner syndrome (TS) is a genetic disorder, affecting 1/2500 to 1/3000 live female births, induced by partial or total deletion of one X chromosome. The neurocognitive profile of girls with TS is characterized by a normal Verbal IQ and weaknesses in visual-spatial, mathematics, and social cognitive domains. Executive functions (EFs) impairments have also been reported in these young patients. However, methodological differences across studies do not allow determination of which EFs are impaired and what is the magnitude of these impairments...
April 27, 2018: Neuropsychology Review
https://www.readbyqxmd.com/read/29699389/a-synopsis-on-current-practice-in-the-diagnosis-and-management-of-patients-with-turner-syndrome-in-turkey-a-survey-of-18-pediatric-endocrinology-centers
#13
Ahmet Uçar, Ayhan Abacı, Özgür Pirgon, Bumin Dündar, Filiz Tütüncüler, Gönül Çatlı, Ahmet Anık, Aylin Kılınç Uğurlu, Atilla Büyükgebiz
Objective: A comprehensive survey was conducted courtesy of the Turkish Turner study group to evaluate the shortcomings of clinical care in patients with Turner syndrome (TS) in Turkey. Methods: A structured questionnaire prepared by the Turner study group in Turkey, which covers relevant aspects of the care of patients with TS, was sent to all pediatric endocrinology centers. Results: Eighteen centers (41%) returned the questionnaire. In the majority of the centers, diagnostic genetic testing, screening for Y chromosomal material, protocols regarding the timing and posology of growth hormone (GH) and estrogen, thrombophilia screening, fertility information, and screening for glucose intolerance, thyroid, and coeliac diseases in patients with TS were in line with the current consensus...
April 27, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29691907/investigation-of-maxillofacial-morphology-and-oral-characteristics-with-turner-syndrome-and-early-mixed-dentition
#14
Nozomi Ahiko, Yoshiyuki Baba, Michiko Tsuji, Reiko Horikawa, Keiji Moriyama
Turner syndrome (TS) is associated with an X chromosome abnormality in women and is characterized by infantilism, congenital webbed neck, and cubitus valgus. The aim of this study was to determine the maxillofacial morphology and oral characteristics of Japanese girls (mean age, 8.5 years) with TS and early mixed dentition. Lateral cephalograms obtained at the first visit were used to analyze maxillofacial morphology. Oral characteristics were identified using orthopantomograms, intraoral photographs, and study casts...
April 25, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29685043/hepatitis-e-virus-in-neurological-disorders-a-case-of-parsonage-turner-syndrome
#15
María Sánchez Azofra, Miriam Romero Portales, Lucia Tortajada Laureiro, Javier García-Samaniego, Pedro Mora Sanz
Hepatitis E virus (HEV) infection is an emerging disease in developed countries with a broad clinical spectrum. In the absence of immunodeficiency or pregnancy, it is a mild and almost asymptomatic condition in most cases. However, extrahepatic manifestations, including neurological conditions, are common and may occasionally lead to permanent neurological sequelae. Herein, we report the case of an immunocompetent patient who was admitted to our hospital with paresthesia and weakness in both the upper extremities associated with anicteric-elevated transaminases...
April 24, 2018: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/29684119/aortic-stiffness-in-adolescent-turner-and-marfan-syndrome-patients
#16
Michal Schäfer, Lorna P Browne, Uyen Truong, James J Jaggers, Max B Mitchell, Ladonna Malone, Gareth Morgan, Kathryn Chatfield, Daniel McLennan, Harma Turbendian, Danial Vargas, Brian Fonseca, Michael DiMaria, Anar Shah, Margaret P Ivy, Alex J Barker, Kendall S Hunter, Neil Wilson, D Dunbar Ivy, David N Campbell
OBJECTIVES: Turner syndrome (TS) and Marfan syndrome (MFS) are partially characterized by aortopathies with a risk of developing severe aortic dilation, stiffness and consequent dissection and aneurysm formation. The incidence of a bicuspid aortic valve (BAV) is also increased in TS. We investigated aortic stiffness in teenage TS and MFS patients and evaluated to what degree stiffness in TS patients is augmented by the presence of a BAV. METHODS: Fifty-seven patients with TS (n = 37) and MFS (n = 20), as well as 22 controls with similar age and size distribution underwent evaluation of thoracic aortic stiffness using phase-contrast magnetic resonance imaging...
April 19, 2018: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29658144/bone-fragility-in-turner-syndrome-fracture-prevalence-and-risk-factors-determined-by-a-national-patient-survey
#17
Halley Wasserman, Philippe F Backeljauw, Jane C Khoury, Heidi J Kalkwarf, Catherine M Gordon
OBJECTIVE: Osteoporosis is considered a comorbidity of adult women with Turner Syndrome (TS). Limited data are available on fracture prevalence in girls and women with this diagnosis. We aimed to determine the prevalence of fractures in individuals with TS in the United States and identify risk factors for fracture. DESIGN: Girls and women with TS were invited to participate in an anonymous, self-report, national survey from November 2016 to March 2017. Non-TS controls were obtained through direct contacts of TS participants...
April 15, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29652668/still-too-little-too-late-ten-years-of-growth-hormone-therapy-baseline-data-from-the-nordinet%C3%A2-international-outcome-study
#18
Michel Polak, Daniel Konrad, Birgitte Tønnes Pedersen, Gediminas Puras, Marta Šnajderová
BACKGROUND: We investigated time trends in age, gender, growth hormone (GH) dose and height standard deviation score (SDS) in children with GH deficiency (GHD), born small for gestational age (SGA) or with Turner syndrome (TS) starting GH treatment. METHODS: Data were obtained from children enrolled in the NordiNet® International Outcome Study (IOS) between 2006 and 2015 in the Czech Republic, France, Germany, Serbia and Montenegro (all indications), and Switzerland and the UK (GHD only)...
April 13, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29624718/editorial-on-brachial-plexitis-or-neuritis-mri-features-of-lesion-distribution-in-parsonage-turner-syndrome
#19
EDITORIAL
Mark A Ferrante
No abstract text is available yet for this article.
April 6, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29615040/multicentre-cross-sectional-clinical-evaluation-study-about-quality-of-life-in-adults-with-disorders-differences-of-sex-development-dsd-compared-to-country-specific-reference-populations-dsd-life
#20
Marion Rapp, Esther Mueller-Godeffroy, Peter Lee, Robert Roehle, Baudewijntje P C Kreukels, Birgit Köhler, Anna Nordenström, Claire Bouvattier, Ute Thyen
BACKGROUND: Previous studies in quality of life (QOL) in individuals with disorders/differences of sex development (DSD) have been restricted to subpopulations of the condition. We describe QOL in adult persons with DSD compared to country specific references and assess the impact of diagnosis. METHODS: The multicentre cross-sectional clinical evaluation (dsd-LIFE) took place in 14 specialized clinics in six European countries. Adolescents (≥16 years) and adults having a DSD condition were included from 02/2014 to 09/2015...
April 3, 2018: Health and Quality of Life Outcomes
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