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Turner syndrom

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https://www.readbyqxmd.com/read/29917083/sex-differences-in-reproductive-hormones-during-mini-puberty-in-infants-with-normal-and-disordered-sex-development
#1
T H Johannsen, K M Main, M L Ljubicic, T K Jensen, H R Andersen, M S Andersen, J H Petersen, A-M Andersson, A Juul
CONTEXT: The early activation of the hypothalamic-pituitary-gonadal axis during infancy can be used in the evaluation of infants suspected of disorders of sex development (DSD). However, few data exists on sex-specific reference ranges for these hormones during early life. OBJECTIVE: To evaluate sex-differences in reproductive hormone concentrations in serum from healthy infants in order to define sex-specific cut-off values and to apply these in infants with DSD...
June 15, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29915563/immunological-profile-and-predisposition-to-autoimmunity-in-girls-with-turner-syndrome
#2
Aneta Monika Gawlik, Elzbieta Berdej-Szczot, Dorota Blat, Renata Klekotka, Tomasz Gawlik, Ewa Blaszczyk, Magdalena Hankus, Ewa Malecka-Tendera
Objective: The risk of autoimmune diseases (AD) in patients with Turner Syndrome (TS) is twice higher than in the general female population and four times higher than in the male population. The causes of the increased incidence of AD in TS are still under discussion. We hypothesized the presence of a specific humoral, cellular, and regulatory T cell (Treg) immunity profile which predisposes to AD, disorders of immunity, and disorders of immune regulation. Methods: The study encompassed 37 girls with TS and with no signs of infection...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29915349/development-of-a-computer-aided-tool-for-the-pattern-recognition-of-facial-features-in-diagnosing-turner-syndrome-comparison-of-diagnostic-accuracy-with-clinical-workers
#3
Shi Chen, Zhou-Xian Pan, Hui-Juan Zhu, Qing Wang, Ji-Jiang Yang, Yi Lei, Jian-Qiang Li, Hui Pan
Technologies applied for the recognition of facial features in diagnosing certain disorders seem to be promising in reducing the medical burden and improve the efficiency. This pilot study aimed to develop a computer-assisted tool for the pattern recognition of facial features for diagnosing Turner syndrome (TS). Photographs of 54 patients with TS and 158 female controls were collected from July 2016 to May 2017. Finally, photographs of 32 patients with TS and 96 age-matched controls were included in the study that were further divided equally into training and testing groups...
June 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29914390/slc4a4-compound-heterozygous-mutations-in-exon-intron-boundary-regions-presenting-with-severe-proximal-renal-tubular-acidosis-and-extrarenal-symptoms-coexisting-with-turner-s-syndrome-a-case-report
#4
Shoko Horita, Enver Simsek, Tulay Simsek, Nilgun Yildirim, Hiroyuki Ishiura, Motonobu Nakamura, Nobuhiko Satoh, Atsushi Suzuki, Hiroyuki Tsukada, Tomohito Mizuno, George Seki, Shoji Tsuji, Masaomi Nangaku
BACKGROUND: Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and band keratopathy. To date, almost all mutations have been found to be homozygous mutations located in exons. CASE PRESENTATION: We performed direct nucleotide sequencing analysis of exons and exon-intron boundary regions of the SLC4A4 in a patient presenting with severe renal proximal tubule acidosis, glaucoma and intellectual disability and her parents without these signs...
June 18, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29906696/ictal-signs-in-tuberous-sclerosis-complex-clinical-and-video-eeg-features-in-a-large-series-of-recorded-seizures
#5
Miriam Nella Savini, Alessia Mingarelli, Aglaia Vignoli, Francesca La Briola, Valentina Chiesa, Angela Peron, Roberto Mai, Laura Tassi, Massimo Mastrangelo, Elena Zambrelli, Katherine Turner, Maria Paola Canevini
Epilepsy is the most common neurological symptom in tuberous sclerosis complex (TSC), occurring in 72-85% of affected individuals. Despite the large number of patients reported, their electroclinical phenotype has been rarely described. We analyzed seizure semiology through ictal video-electroencephalography (V-EEG) recordings in a large series of patients. In this multicenter study, we reviewed V-EEGs of 51 patients: ictal recordings were analyzed in correlation with their clinical variables. The median age of epilepsy onset was six months (one day-16 years), with onset in the first year of life in 71% patients (36/51), in 10 of them during the neonatal period...
June 12, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29902804/congenital-hyperinsulinism-in-infants-with-turner-syndrome-possible-association-with-monosomy-x-and-kdm6a-haploinsufficiency
#6
Christopher E Gibson, Kara E Boodhansingh, Changhong Li, Laura Conlin, Pan Chen, Susan A Becker, Tricia Bhatti, Vaneeta Bamba, N Scott Adzick, Diva D De Leon, Arupa Ganguly, Charles A Stanley
BACKGROUND: Previous case reports have suggested a possible association of congenital hyperinsulinism with Turner syndrome. OBJECTIVE: We examined the clinical and molecular features in girls with both congenital hyperinsulinism and Turner syndrome seen at The Children's Hospital of Philadelphia (CHOP) between 1974 and 2017. METHODS: Records of girls with hyperinsulinism and Turner syndrome were reviewed. Insulin secretion was studied in pancreatic islets and in mouse islets treated with an inhibitor of KDM6A, an X chromosome gene associated with hyperinsulinism in Kabuki syndrome...
June 14, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29895892/large-scale-mapping-of-cortical-alterations-in-22q11-2-deletion-syndrome-convergence-with-idiopathic-psychosis-and-effects-of-deletion-size
#7
Daqiang Sun, Christopher R K Ching, Amy Lin, Jennifer K Forsyth, Leila Kushan, Ariana Vajdi, Maria Jalbrzikowski, Laura Hansen, Julio E Villalon-Reina, Xiaoping Qu, Rachel K Jonas, Therese van Amelsvoort, Geor Bakker, Wendy R Kates, Kevin M Antshel, Wanda Fremont, Linda E Campbell, Kathryn L McCabe, Eileen Daly, Maria Gudbrandsen, Clodagh M Murphy, Declan Murphy, Michael Craig, Jacob Vorstman, Ania Fiksinski, Sanne Koops, Kosha Ruparel, David R Roalf, Raquel E Gur, J Eric Schmitt, Tony J Simon, Naomi J Goodrich-Hunsaker, Courtney A Durdle, Anne S Bassett, Eva W C Chow, Nancy J Butcher, Fidel Vila-Rodriguez, Joanne Doherty, Adam Cunningham, Marianne B M van den Bree, David E J Linden, Hayley Moss, Michael J Owen, Kieran C Murphy, Donna M McDonald-McGinn, Beverly Emanuel, Theo G M van Erp, Jessica A Turner, Paul M Thompson, Carrie E Bearden
The 22q11.2 deletion (22q11DS) is a common chromosomal microdeletion and a potent risk factor for psychotic illness. Prior studies reported widespread cortical changes in 22q11DS, but were generally underpowered to characterize neuroanatomic abnormalities associated with psychosis in 22q11DS, and/or neuroanatomic effects of variability in deletion size. To address these issues, we developed the ENIGMA (Enhancing Neuro Imaging Genetics Through Meta-Analysis) 22q11.2 Working Group, representing the largest analysis of brain structural alterations in 22q11DS to date...
June 13, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29895017/transition-in-pediatric-and-adolescent-hypogonadal-girls-gynecological-aspects-estrogen-replacement-therapy-and-contraception
#8
Anette Tønnes Pedersen, Line Cleemann, Katharina M Main, Anders Juul
Hypogonadism may be suspected if puberty is delayed. Pubertal delay may be caused by a normal physiological variant, by primary ovarian insufficiency (Turner syndrome), or reflect congenital hypogonadotropic hypogonadism (HH; genetic) or acquired HH (brain lesions). Any underlying chronic disease like inflammatory bowel disease, celiac disease, malnutrition (anorexia or orthorexia), or excessive physical activity may also result in functional HH. Thus, girls with delayed puberty should be evaluated for an underlying pathology before any treatment, including oral contraception, is initiated...
2018: Endocrine Development
https://www.readbyqxmd.com/read/29892954/analyses-of-karyotype-by-g-banding-and-high-resolution-microarrays-in-a-gender-dysphoria-population
#9
Rosa Fernández, Antonio Guillamón, Esther Gómez-Gil, Isabel Esteva, Mari Cruz Almaraz, Joselyn Cortés-Cortés, Beatriz Lamas, Estefanía Lema, Eduardo Pásaro
Gender Dysphoria is characterized by a marked incongruence between the cerebral sex and biological sex. To investigate the possible influence of karyotype on the etiology of Gender Dysphoria we carried out the cytogenetic analysis of karyotypes in 444 male-to-females (MtFs) and 273 female-to-males (FtMs) that attended the Gender Identity Units of Barcelona and Málaga (Spain) between 2000 and 2016. The karyotypes from 23 subjects (18 MtFs and 5 FtMs) were also analysed by Affymetrix CytoScan™ high-density (HD) arrays...
May 2018: Genes & Genomics
https://www.readbyqxmd.com/read/29891725/pembrolizumab-exposure-response-assessments-challenged-by-association-of-cancer-cachexia-and-catabolic-clearance
#10
David Turner, Anna G Kondic, Keaven M Anderson, Andrew Robinson, Edward B Garon, Jonathan W Riess, Lokesh Jain, Kapil Mayawala, Jiannan Kang, Scot W Ebbinghaus, Vikram Sinha, Dinesh P de Alwis, Julie A Stone
PURPOSE: To investigate the relationship of pembrolizumab pharmacokinetics (PK) and overall survival (OS) in patients with advanced melanoma and non-small cell carcinoma (NSCLC). EXPERIMENTAL DESIGN: PK dependencies in OS were evaluated across three pembrolizumab studies of either 200mg or 2-10 mg/kg Q3W. Kaplan-Meier (K-M) plots of OS, stratified by dose, exposure, and baseline clearance were assessed per indication and study. A Cox Proportional Hazards model was implemented to explore imbalances of typical prognostic factors in high/low NSCLC CL</SPAN>0 <SPAN style="font-family: Arial, sans-serif;"> subgroups...
June 11, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29886602/-consensus-statement-on-diagnosis-and-management-of-patients-with-turner-syndrome-in-children
#11
(no author information available yet)
No abstract text is available yet for this article.
June 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29886601/-pay-great-attention-to-the-diagnosis-and-treatment-of-turner-syndrome
#12
Y Liang, X P Luo
No abstract text is available yet for this article.
June 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29886498/transition-of-care-from-childhood-to-adulthood-turner-syndrome
#13
Gerard Conway
Girls with Turner syndrome (TS) require special consideration during transition from childhood to adult care. During the transition years, treatment for short stature will be completed and sexual development induced in parallel with the peer group. The timing of sexual development may have later repercussions with respect to psychosocial development and partnership status. Late presentation of TS, which is so common, can result in additional difficulties with the transition process.
2018: Endocrine Development
https://www.readbyqxmd.com/read/29883053/mucus-t-helper-2-biomarkers-predict-chronic-rhinosinusitis-disease-severity-and-prior-surgical-intervention
#14
Justin H Turner, Ping Li, Rakesh K Chandra
BACKGROUND: Chronic rhinosinusitis (CRS) is a diverse clinical syndrome with a heterogeneous pathophysiology. Early attempts to identify CRS endotypes and biomarkers have largely relied on analysis of surgically obtained tissue, thus limiting their practical utility. This study examined the ability of mucus T helper 2 (Th2) biomarkers to predict CRS disease severity and clinical characteristics. METHODS: CRS (n = 90) and healthy control subjects (n = 17) were prospectively enrolled prior to surgical intervention and mucus levels of interleukin (IL)-4, IL-5, and IL-13 were determined using a multiplex cytometric bead assay...
June 8, 2018: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/29879705/the-mosaicism-ratio-of-45-x-may-explain-the-phenotype-in-a-case-of-mixed-gonadal-dysgenesis
#15
Megumi Hatano, Ryuji Fukuzawa, Yukihiro Hasegawa
Some patients with mixed gonadal dysgenesis (MGD), whose prototypical karyotype is 45,X/46,XY, are known to manifest complications characteristic of Turner syndrome. We report a 16-year-old social male with MGD presenting with coarctation of the aorta, one of the common complications for Turner syndrome. At birth, the patient was found to have hypospadias, bifid scrotum, and cryptorchidism. Chromosomal analysis of his lymphocytes revealed the karyotype 45,X[7]/46,X,dic(Y;22)(p11.3;q13.3)[23] (named 45,X/46,X+Y fragment in this article)...
June 8, 2018: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29877636/the-assessment-of-skeletal-status-in-young-patients-with-turner-syndrome-by-2-densitometric-techniques-phalangeal-quantitative-ultrasound-and-dual-energy-x-ray-absorptiometry
#16
Beata Wikiera, Agata Mierzwicka, Aleksander Basiak, Jowita Halupczok-Żyła, Diana Jędrzejuk, Magdalena Cabała, Anna Noczyńska, Marek Bolanowski, Kornel Mikołajczyk, Zenon P Halaba
BACKGROUND: Studies using dual energy X-ray absorptiometry (DXA) demonstrate a reduction in bone mineral density (BMD) in children and adolescents with Turner syndrome (TS). However, these studies do not take into account changes in bone size, which influence BMD in the case of short-statured patients. Phalangeal quantitative ultrasound (phQUS) measurements have shown an ability to reveal changes due to skeletal growth, aging, and bone and mineral disorders. There is limited data on bone mineral status in girls with TS assessed by 2 different techniques, i...
June 4, 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29875428/the-impact-of-variant-classification-on-the-clinical-management-of-hereditary-cancer-syndromes
#17
Scott A Turner, Smita K Rao, R Hayes Morgan, Cindy L Vnencak-Jones, Georgia L Wiesner
PURPOSE: The reclassification of genetic variants poses a significant challenge for laboratories and clinicians. Variant review has resulted in the reclassification of variants of unknown significance as well as the reclassification of previously established pathogenic and likely pathogenic variants. These reclassifications have the potential to alter the clinical management of patients with hereditary cancer syndromes. METHODS: Results were reviewed for 1694 patients seen for hereditary cancer evaluation between August 2012 and May 2017 to determine the frequency and types of variant reclassification...
June 6, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29866389/cardiovascular-risk-in-turner-syndrome
#18
REVIEW
Beatriz Donato, Maria João Ferreira
Turner syndrome is a relatively common genetic disorder of female development, characterized by partial or complete absence of an X chromosome, with a variable clinical presentation. Congenital or acquired cardiovascular disease is highly prevalent and a major cause of early death in this syndrome. The most feared complication is aortic dissection, which can occur at a very young age and requires careful assessment of its risk factors. A systematic literature search identified sixty relevant publications. These were reviewed with regard to the increased risk of cardiovascular disease in women with Turner syndrome, especially in pregnancy...
June 1, 2018: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/29850420/syndromes-with-aortic-involvement-pictorial-review
#19
REVIEW
Evan J Zucker
A variety of syndromes are associated with thoracoabdominal aortic pathologies. While these diseases are collectively rare, the presence of advanced or unusual aortic disease at a young age should raise suspicion of an underlying syndrome. Similarly, patients with a known syndrome require close monitoring in anticipation of future aortic disease. In this article, the syndromes most commonly encountered in clinical practice are reviewed, including Marfan syndrome (MFS) and other connective tissue disorders, Turner syndrome (TS), autosomal dominant polycystic kidney disease (ADPKD), neurofibromatosis (NF), Williams syndrome (WS), Alagille syndrome (AGS), and DiGeorge syndrome (DGS)...
April 2018: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/29846955/orthopedic-orthodontic-treatment-of-the-patient-with-turner-s-syndrome-review-of-the-literature-and-case-report
#20
Angela Pia Cazzolla, Lorenzo Lo Muzio, Olga Di Fede, Vitantonio Lacarbonara, Andrea Colaprico, Nunzio F Testa, Troiano Giuseppe, Khrystyna Zhurakivska, Giuseppe Marzo, Maria Grazia Lacaita
AIMS: Turner syndrome (TS) patients have phenotypical variable presentations and they are more susceptible to endocrine, auto-immune, and structural anomalies. Typical clinical characteristics are short stature and premature ovarian insufficiency. Patients with TS show a typical cranial-facial morphology with bi-maxillary bi-retrusion, high-arched palate, micrognathia, and class II malocclusion. Aim of our study is to present the orthopedic-orthodontic treatment approach of a young TS patient and data of stability after 7 years...
May 30, 2018: Special Care in Dentistry
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