keyword
MENU ▼
Read by QxMD icon Read
search

Turners syndrome

keyword
https://www.readbyqxmd.com/read/29791178/-rare-combination-of-turner-syndrome-and-congenital-adrenal-hyperplasia-with-21-hydroxylase-deficiency-case-report
#1
Ivana Ságová, Matej Stančík, Dušan Pavai, Daniela Kantárová, Anton Vaňuga, Peter Vaňuga
Combination of Turner syndrome (TS) and classic congenital adrenal hyperplasia (CAH) is rare. Globally, the incidence of CAH, autosomal recessive disorder caused by enzyme defect of steroidogenic pathway, is very low (1 : 10 000-16 000). 90 % of CAH cases are caused by 21-hydroxylase gene mutation (CYP21A2). Globally, the incidencie of Turner syndrome reaches 1 : 2 500. Phenotypically, females with TS may render wide spectrum of clinical features. Dominant symptoms are lowered terminal height and gonadal dysgenesia, ultimately leading to absence of puberty and infertility...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29780353/normal-performance-in-non-visual-social-cognition-tasks-in-women-with-turner-syndrome
#2
David Anaki, Tal Zadikov-Mor, Vardit Gepstein, Ze'ev Hochberg
Turner syndrome (TS) is a chromosomal disorder in women resulting from a partial or complete absence of the X chromosome. In addition to physical and hormonal dysfunctions, along with a unique neurocognitive profile, women with TS are reported to suffer from social functioning difficulties. Yet, it is unclear whether these difficulties stem from impairments in social cognition per se or from other deficits that characterize TS but are not specific to social cognition. Previous research that has probed social functioning in TS is equivocal regarding the source of these psychosocial problems since they have mainly used tasks that were dependent on visual-spatial skills, which are known to be compromised in TS...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29779671/resting-state-connectivity-biomarkers-of-cognitive-performance-and-social-function-in-individuals-with-schizophrenia-spectrum-disorder-and-healthy-control-subjects
#3
Joseph D Viviano, Robert W Buchanan, Navona Calarco, James M Gold, George Foussias, Nikhil Bhagwat, Laura Stefanik, Colin Hawco, Pamela DeRosse, Miklos Argyelan, Jessica Turner, Sofia Chavez, Peter Kochunov, Peter Kingsley, Xiangzhi Zhou, Anil K Malhotra, Aristotle N Voineskos
BACKGROUND: Deficits in neurocognition and social cognition are drivers of reduced functioning in schizophrenia spectrum disorders, with potentially shared neurobiological underpinnings. Many studies have sought to identify brain-based biomarkers of these clinical variables using a priori dichotomies (e.g., good vs. poor cognition, deficit vs. nondeficit syndrome). METHODS: We evaluated a fully data-driven approach to do the same by building and validating a brain connectivity-based biomarker of social cognitive and neurocognitive performance in a sample using resting-state and task-based functional magnetic resonance imaging (n = 74 healthy control participants, n = 114 persons with schizophrenia spectrum disorder, 188 total)...
April 13, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29779083/identifying-nonalcoholic-fatty-liver-disease-advanced-fibrosis-in-the-veterans-health-administration
#4
Yuval A Patel, Elizabeth J Gifford, Lisa M Glass, Marsha J Turner, Byungjoo Han, Cynthia A Moylan, Steve Choi, Ayako Suzuki, Dawn Provenzale, Christine M Hunt
BACKGROUND: Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease. Severe NAFLD with advanced fibrosis results in substantial morbidity and mortality. Associated with metabolic syndrome, NAFLD is often initially clinically silent, yet intensive lifestyle intervention with 7% or greater weight loss can improve or resolve NAFLD. Using a Veterans Health Administration (VHA) liver biopsy cohort, we evaluated simple noninvasive fibrosis scoring systems to identify NAFLD with advanced fibrosis (or severe disease) to assist providers...
May 19, 2018: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29777298/aortic-elasticity-deterioration-proves-intrinsic-abnormality-of-the-ascending-aorta-in-pediatric-turner-syndrome-unrelated-to-the-aortic-valve-morphology
#5
Christiane Pees, Julian A Heno, Gabriele Häusler, Diana-Alexandra Ertl, Talin Gulesserian, Ina Michel-Behnke
Turner syndrome (TS) is a common genetic disorder in females with high incidence of ascending aortic dilatation and even dissection occurring as early as in the second decade. Known risk factors (RF) are bicuspid aortic valves (BAV), coarctation of the aorta (CoA), and arterial hypertension. Since 10% of dissections occur in patients without RF, an intrinsic aortic wall abnormality has been postulated. This study aimed to investigate the elasticity of the ascending aorta as a surrogate marker of aortic wall texture...
May 18, 2018: Heart and Vessels
https://www.readbyqxmd.com/read/29774207/overview-of-social-cognitive-dysfunctions-in-rare-developmental-syndromes-with-psychiatric-phenotype
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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/29749079/acute-tau-knockdown-in-the-hippocampus-of-adult-mice-causes-learning-and-memory-deficits
#12
Ramon Velazquez, Eric Ferreira, An Tran, Emily C Turner, Ramona Belfiore, Caterina Branca, Salvatore Oddo
Misfolded and hyperphosphorylated tau accumulates in several neurodegenerative disorders including Alzheimer's disease, frontotemporal dementia with Parkinsonism, corticobasal degeneration, progressive supranuclear palsy, Down syndrome, and Pick's disease. Tau is a microtubule-binding protein, and its role in microtubule stabilization is well defined. In contrast, while growing evidence suggests that tau is also involved in synaptic physiology, a complete assessment of tau function in the adult brain has been hampered by robust developmental compensation of other microtubule-binding proteins in tau knockout mice...
May 10, 2018: Aging Cell
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
31171
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"