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https://www.readbyqxmd.com/read/29344338/current-best-practice-in-the-management-of-turner-syndrome
#1
REVIEW
Roopa Kanakatti Shankar, Philippe F Backeljauw
Turner syndrome (TS) is characterized by partial or complete loss of the second X-chromosome in phenotypic females resulting in a constellation of clinical findings that may include lymphedema, cardiac anomalies, short stature, primary ovarian failure and neurocognitive difficulties. Optimizing health care delivery is important to enable these individuals achieve their full potential. We review the current best practice management recommendations for individuals with TS focusing on the latest consensus opinion in regard to genetic diagnosis, treatment of short stature, estrogen supplementation, addressing psychosocial issues, as well screening for other comorbidities...
January 2018: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29339108/phenotype-in-girls-and-women-with-turner-syndrome-association-between-dysmorphic-features-karyotype-and-cardio-aortic-malformations
#2
Iris Noordman, Anthonie Duijnhouwer, Livia Kapusta, Marlies Kempers, Nel Roeleveld, Michiel Schokking, Dominique Smeets, Kim Freriks, Henri Timmers, Janiëlle van Alfen-van der Velden
INTRODUCTION: Turner syndrome (TS) is a genetic disorder characterized by the (partial) absence or a structural aberration of the second sex chromosome and is associated with a variety of phenotypes with specific physical features and cardio-aortic malformations. The objective of this study was to gain a better insight into the differences in dysmorphic features between girls and women with TS and to explore the association between these features, karyotype and cardio-aortic malformations...
January 12, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29338474/subarachnoid-space-diameter-in-chromosomally-abnormal-fetuses-at-11-13-weeks-gestation
#3
Carolina Ferreira, Ana Lidia Rouxinol-Dias, Teresa Loureiro, Kypros Nicolaides
OBJECTIVES: To examine the subarachnoid space diameters in chromosomally abnormal fetuses at 11-13 weeks' gestation. METHODS: Stored three-dimensional (3D) ultrasound volumes of the fetal head at 11-13 weeks' gestation from 407 euploid and 88 chromosomally abnormal fetuses (trisomy 21, n = 40; trisomy 18, n = 19; trisomy 13, n = 7; triploidy, n = 14; Turner syndrome, n = 8) were analyzed. The subarachnoid space diameters, measured in the sagittal and transverse planes of the fetal head, in relation to biparietal diameter (BPD) in each group of aneuploidies was compared to that in euploid fetuses...
January 16, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29325624/sex-chromosome-aneuploidies
#4
David Skuse, Frida Printzlau, Jeanne Wolstencroft
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes. We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, and XXYY. Despite their prevalence in the general population, these disorders are underdiagnosed and the specific genetic mechanisms underlying their phenotypes are poorly understood. Although there is considerable variation between them in terms of associated functional impairment, each disorder has a characteristic physical, cognitive, and neurologic profile...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29320756/generation-of-an-induced-pluripotent-stem-cell-line-from-an-adult-male-with-45-x-46-xy-mosaicism
#5
Yumei Luo, Detu Zhu, Xiangye Xu, Lingxia Ge, Xiaofang Sun, Guokai Chen, Yaoyong Chen
Turner syndrome (TS) with 45,X/46,XY mosaic karyotype is a rare sex chromosome disorder with an occurrence of 0.15‰ at birth. We report the generation of an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a Chinese adult male with 45,X/46,XY mosaicism. The iPSC line retains the original 45,X/46,XY mosaic karyotype, expresses pluripotency markers and undergoes trilineage differentiation. Therefore, it offers an unprecedented cellular model to investigate the profound symptoms like infertility of TS in the male, and serve as a useful tool to develop therapies for the disease...
January 5, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29311012/anesthetic-management-of-mosaic-turner-s-syndrome-posted-for-elective-cesarean-delivery-after-spontaneous-pregnancy
#6
K Kalopita, L Michala, C Theofanakis, D Valsamidis
Turner's syndrome, one of the most common sex chromosome abnormalities in females, is caused by loss of part or all of an X chromosome. We report a case of mosaic Turner's syndrome, posted for elective cesarean delivery under low-dose sequential combined spinal epidural anesthesia. The unique features of this case were the combination of an anticipated difficult airway and both short stature and scoliosis in the lumbar region. A titrated combined spinal-epidural technique was performed in order to avoid hemodynamic instability, which could have been exacerbated in the presence of cardiovascular deformities that accompany this syndrome in many cases...
November 26, 2017: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/29306927/a-rare-unbalanced-y-autosome-translocation-in-a-turner-syndrome-patient
#7
Ruen Yao, Ding Yu, Jian Wang, Xiumin Wang, Yiping Shen
BACKGROUND: Y:autosome translocations are reported to be associated with male infertility and azoospermia. Female cases with Y:autosome translocation are extremely rare. CASE PRESENTATION: We report a unique case of a rare unbalanced translocation t(Y;13) in a 12-year-old girl with Turner syndrome. Combined cytogenetic testing helped to demonstrate the detail of rare chromosomal structural rearrangement in this patient. CONCLUSIONS: The presented case showed femaleness phenotype and failure of masculinization with presence of Y chromosome and the SRY gene...
January 8, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29303780/clinical-and-cytogenetic-features-of-516-patients-with-suspected-turner-syndrome-a-single-center-experience
#8
Annelise B Carvalho, Sofia H V Lemos-Marini, Gil Guerra-Junior, Andréa T Maciel-Guerra
BACKGROUND: Clinical suspicion of Turner syndrome (TS) may be challenging. Short stature and absent puberty are not mandatory and the dysmorphic picture is widely variable. The aim of the study was to describe a representative sample of patients with suspected TS in a single center and to verify which set of features may help discriminate those with TS. METHODS: This was a retrospective study of patients with suspected TS evaluated between 1989 and 2012 with the same clinical and cytogenetic protocols...
January 5, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29301184/development-of-disease-specific-growth-charts-in-turner-syndrome-and-noonan-syndrome
#9
REVIEW
Tsuyoshi Isojima, Susumu Yokoya
Many congenital diseases are associated with growth failure, and patients with these diseases have specific growth patterns. As the growth patterns of affected individuals differ from those of normal populations, it is challenging to detect additional conditions that can influence growth using standard growth charts. Disease-specific growth charts are thus very useful tools and can be helpful for understanding the growth pattern and pathogenesis of congenital diseases. In addition, disease-specific growth charts allow doctors to detect deviations from the usual growth patterns for early diagnosis of an additional condition and can be used to evaluate the effects of growth-promoting treatment for patients...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29301182/diagnostic-and-therapeutic-considerations-in-turner-syndrome
#10
REVIEW
Seung Yang
Newly developed genetic techniques can reveal mosaicism in individuals diagnosed with monosomy X. Noninvasive prenatal diagnosis using maternal blood can detect most fetuses with X chromosome abnormalities. Low-dose and ultralow-dose estrogen replacement therapy can achieve a more physiological endocrine milieu. However, many complicated and controversial issues with such treatment remain. Therefore, lifetime observation, long-term studies of health problems, and optimal therapeutic plans are needed for women with Turner syndrome...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29300907/a-6-year-follow-up-of-fracture-incidence-and-volumetric-bone-mineral-density-development-in-girls-with-turner-syndrome
#11
Ondrej Soucek, Eckhard Schönau, Jan Lebl, Johannes Willnecker, Zdenek Hlavka, Zdenek Sumnik
Context: Patients with Turner Syndrome (TS) are at risk of osteoporotic fractures. Objective: The aims of this study were to assess the incidence of clinically significant fractures in girls with TS and prospectively describe the development of volumetric bone mineral density (BMD). Design: Peripheral quantitative computerized tomography (pQCT) of the radius every other year over the 6 years of observation. Setting: Government funded university referral center...
December 28, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29299618/heart-transplantation-in-children-with-turner-syndrome-analysis-of-a-linked-dataset
#12
Joshua D Chew, Jonathan H Soslow, Cary Thurm, Matt Hall, Debra A Dodd, Brian Feingold, Jill Simmons, Justin Godown
Turner syndrome (TS) patients with hypoplastic left heart syndrome (HLHS) have poor single ventricle palliation outcomes; therefore, consideration of other potential management strategies is important. Little is known about heart transplantation (HTx) in this group, as standard HTx databases do not allow for identification of TS. This study describes experiences and outcomes of HTx in TS using a unique linkage between the Scientific Registry of Transplant Recipients and the Pediatric Health Information System databases...
January 3, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29288835/evaluation-of-anterior-segment-parameters-in-patients-with-turner-syndrome-using-scheimpflug-imaging
#13
Merve Inanc, Kemal Tekin, Erdal Kurnaz, Mehmet Citirik, Gülsah Altas, Zehra Aycan
PURPOSE: To compare the anterior segment parameters in patients with Turner syndrome (TS) as measured by the Pentacam HR-Scheimpflug imaging system with those of healthy control subjects. METHODS: This cross-sectional prospective study included 35 patients with TS and 30 age-matched controls. Corneal topographic analysis was performed using the Pentacam HR-Scheimpflug imaging system (Oculus, Wetzlar, Germany). The power of the corneal astigmatism, mean keratometry (Km) values for the both front and back surfaces of the cornea, maximum keratometry (Kmax), central corneal thickness (CCT), corneal volume (CoV), white-to-white diameter (WTW), chamber volume (CaV), angle and anterior chamber depth (ACD) values were recorded...
December 27, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29275412/hypertensive-cerebral-hemorrhage-in-a-patient-with-turner-syndrome-caused-by-deletion-in-the-short-arm-of-the-x-chromosome
#14
Yusuke S Hori, Takahiro Ohkura, Yuki Ebisudani, Michiari Umakoshi, Masato Ishi, Kazunori Oda, Mizuho Aoi, Takushi Inoue, Mahoko Furujo, Hiroyuki Tanaka, Toru Fukuhara
Turner syndrome is a chromosomal disorder usually caused by complete deletion of an X chromosome, with deletion in the short arm of the X chromosome being a rare cause of the condition. Patients with Turner syndrome commonly develop hypertension, and associated vascular complications such as aortic dissection or cerebral hemorrhage have been reported. Cerebral hemorrhage in Turner syndrome is a rare complication, and only a few reports have been published. In these reports, all patients have XO karyotypes or a mosaic type as the cause of Turner syndrome, while no other Turner syndrome types have been documented...
December 23, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29275408/prediction-of-spontaneous-puberty-in-turner-syndrome-based-on-mid-childhood-gonadotropin-concentrations-karyotype-and-ovary-visualization-a-longitudinal-study
#15
Magdalena Hankus, Kamil Soltysik, Kamila Szeliga, Aleksandra Antosz, Agnieszka Drosdzol-Cop, Krzysztof Wilk, Agnieszka Zachurzok, Ewa Malecka-Tendera, Aneta Monika Gawlik
AIMS: To investigate whether karyotype, mid-childhood (6-10 years) follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels, and ultrasound ovary visualization results can be used as indicators of spontaneous puberty in Turner syndrome (TS). METHODS: The analysis was based on clinical and biochemical data from 110 TS girls aged >13 years at the end of the study (1,140 visits between 1996 and 2015). The study population was divided according to karyotype: 45,X and non-45,X...
December 22, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29260011/isolated-pons-involvement-in-posterior-reversible-encephalopathy-syndrome-case-report-and-review-of-the-literature
#16
REVIEW
Mariangela Ferrara, Pietro Di Viesti, Vincenzo Inchingolo, Raffaela Rita Latino, Teresa Popolizio, Salvatore Angelo De Cosmo, Flavia Pugliese, Maurizio Angelo Leone
Background: Posterior Reversible Encephalopathy Syndrome (PRES) is a clinical-radiological syndrome, usually reversible and with a favorable prognosis, which recognizes a variety of etiologies and clinical patterns and is likely due to an impairment in cerebral blood flow autoregulation. It is typically characterized by subcortical, predominantly parieto-occipital, vasogenic brain oedema in patients with acute-subacute neurological symptoms. Infratentorial oedema on neuroimaging has been mostly described in association with the typical supratentorial pattern and seldom as isolated...
March 2017: ENeurologicalSci
https://www.readbyqxmd.com/read/29259966/x-linked-hypophosphatemic-rickets-del-2-q37-1-q37-3-deletion-syndrome-and-mosaic-turner-syndrome-mos-45-x-46-x-del-2-q37-1-q37-3-in-a-3-year-old-female
#17
Alaina P Vidmar, Brian Miyazaki, Pedro A Sanchez-Lara, Pisit Pitukcheewanont
There are currently no published cases that report concomitant Turner syndrome (TS), 2q37 deletion syndrome and X-linked hypophosphatemic rickets (XLH). Interestingly, since the clinical phenotypes of TS and 2q37 deletion syndrome overlap, the correct diagnosis may be missed without a standardized approach to genetic testing consisting of both karyotype and microarray. Both chromosome anomalies have been associated with short stature and a variety of skeletal abnormalities however to date no reports have associated these syndromes in association with a phosphate regulating endopeptidase homolog, X-linked (PHEX) gene deletion resulting in XLH...
November 2017: Journal of Bone Metabolism
https://www.readbyqxmd.com/read/29248931/molecular-detection-and-incidence-of-y-chromosomal-material-in-patients-with-turner-syndrome
#18
Aleksandra Rojek, Monika Obara-Moszynska, Zofia Kolesinska, Barbara Rabska-Pietrzak, Marek Niedziela
The presence of a Y chromosome in patients with Turner syndrome (TS) is a risk factor for the development of gonadal tumor and/or virilization. With conventional cytogenetic analysis, some cells containing a Y chromosome can be missed. The aim of this study was to determine the presence and incidence of Y chromosome-derived material in TS patients using PCR and the markers SRY, DYZ1, DYZ3, DYS132, ZFY, and TSPY. Fifty-five TS patients (aged 5.5-26.75 years) were analyzed. A total of 17/55 (30.9%) were Y-positive, but only 7/17 had a Y chromosome in their karyotype and underwent gonadectomy...
December 16, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29246465/resource-use-and-morbidities-in-pediatric-cardiac-surgery-patients-with-genetic-conditions
#19
Jamie Furlong-Dillard, David Bailly, Venugopal Amula, Jacob Wilkes, Susan Bratton
OBJECTIVE: To evaluate and describe resource use and perioperative morbidities among those patients with genetic conditions undergoing cardiac surgery. STUDY DESIGN: Using the Pediatric Health Information System database, we identified patients ≤18 years old with cardiac surgery classified by Risk Adjustment for Congenital Heart Surgery (RACHS) during 2003-2014. A total of 95 253 patients met study criteria and included no genetic conditions (84.6%), trisomy 21 (9...
December 12, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29245097/inverted-v-shaped-high-tibial-osteotomy-for-severe-tibia-vara-associated-with-turner-syndrome-a-case-report-and-review-of-literature
#20
Daisuke Abe, Satoshi Hamai, Ken Okazaki, Masato Yoshimoto, Takashi Komatsu, Yasuharu Nakashima
INTRODUCTION: Severe cases of genu varum represent a major challenge in obtaining normal configuration of the proximal tibia and overall limb alignment. PRESENTATION OF CASE: We performed inverted V-shaped high tibial osteotomy (HTO) by using a locking plate for recurrent severe bilateral tibia vara in a 15-year-old female patient with Turner syndrome. Preoperative medial proximal tibial angle (MPTA) and standing femorotibial angle (FTA) of the right/left legs were 67°/69° and 197°/203°, respectively...
December 8, 2017: International Journal of Surgery Case Reports
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