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Turner syndrome

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https://www.readbyqxmd.com/read/28921168/chromosomal-abnormalities-affect-the-surgical-outcome-in-infants-with-hypoplastic-left-heart-syndrome-a-large-cohort-analysis
#1
Dala Zakaria, Xinyu Tang, Rupal Bhakta, Nahed O ElHassan, Parthak Prodhan
Patients with hypoplastic left heart syndrome (HLHS) can have associated genetic abnormalities. This study evaluated the incidence of genetic abnormalities among infants with HLHS and the short-term outcomes of this population during the first hospitalization. This is a retrospective analysis of the multi-center Pediatric Heath Information System database of infants with HLHS who underwent Stage I Norwood, Hybrid, or heart transplant during their first hospitalization from 2004 through 2013. We compared clinical data between infants with and without genetic abnormality, among the three most common chromosomal abnormalities, and between survivors and non-survivors...
September 18, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28904980/enterovirus-human-rhinovirus-a-rare-cause-of-acute-respiratory-distress-syndrome
#2
Parita Soni, Anand Rai, Nidhi Aggarwal, Stephan Kamholz, Taek Yoon, Yizhak Kupfer
A 22-year-old Asian woman presented with respiratory distress, cough, and wheezing for 1 week. Prior history included asthma and Turner syndrome. On presentation to the emergency department, the patient was hypotensive, tachycardic, tachypneic, with an oxyhemoglobin saturation in the mid 80% range while breathing ambient air. Chest radiograph revealed pulmonary vascular congestion and a left lower lobe infiltrate. Endotracheal intubation, mechanical ventilation, and vasopressors were initiated. Empiric therapy for community-acquired pneumonia was administered utilizing broad-spectrum intravenous antibiotics...
July 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28902629/individualised-growth-response-optimisation-igro-tool-an-accessible-and-easy-to-use-growth-prediction-system-to-enable-treatment-optimisation-for-children-treated-with-growth-hormone
#3
REVIEW
Jane Loftus, Anders Lindberg, Ferah Aydin, Roy Gomez, Mohamad Maghnie, Raoul Rooman, Heinz Steinkamp, Helmuth Doerr, Michael Ranke, Cecilia Camacho-Hubner
BACKGROUND: Growth prediction models (GPMs) exist to support clinical management of children treated with growth hormone (GH) for growth hormone deficiency (GHD), Turner syndrome (TS) and for short children born small for gestational age (SGA). Currently, no prediction system has been widely adopted. CONTENT: The objective was to develop a stand-alone web-based system to enable the widespread use of an 'individualised growth response optimisation' (iGRO) tool across European endocrinology clinics...
September 13, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28884231/infant-brachial-neuritis-following-a-viral-prodrome-a-case-in-a-6-month-old-child-and-review-of-the-literature
#4
Oliver D Mrowczynski, Sara T Langan, Elias B Rizk
INTRODUCTION: Brachial neuritis, commonly known as Parsonage-Turner syndrome, affects two to three people per 100,000 and presents with pain and weakness of the arm and shoulder. Brachial neuritis is uncommon in infants. METHODS: Here, we present the case of a 6-month old female, who presented with right upper extremity weakness and paresis following a viral prodrome. We also present a summary of all reported cases of brachial neuritis in infants. RESULTS: This is the youngest case of brachial neuritis diagnosed at our institution...
September 7, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28869935/fetal-aneuploidy-a-comparison-of-dichorionic-twins-and-monochorionic-twins
#5
Xiaomei Shi, Lin Li, Xuan Huang, Baojiang Chen, Yi Zhou, Qun Fang
OBJECTIVE: To assess the clinical characteristics of fetal aneuploidy between dichorionic twins (DCT) and monochorionic twins (MCT) undergoing invasive prenatal diagnosis. METHODS: Twin fetuses undergoing invasive prenatal diagnosis were enrolled in this study. All twin fetuses were classified into 2 groups according to chorionicity. The rates of fetal aneuploidy in different groups were compared. RESULT: This study included 1,714 fetuses (857 sets of twin pairs); among them, 1,190 were DCT and 524 were MCT...
September 5, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28862878/turner-syndrome-growing-pressure-for-more-multidisciplinary-clinics-for-adults-and-earlier-diagnosis-in-children
#6
Gerard S Conway
No abstract text is available yet for this article.
October 2017: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/28853127/winging-of-the-scapula-diagnosed-as-parsonage-turner-syndrome-a-case-report
#7
Christine Carroll, Bill Bass
A 24-year-old active duty female Soldier complained of right shoulder burning, stinging, electrical shock-like pain with radiation to the right hand after completing a ruck march. She also complained of swelling and feelings of her cold right hand. Examination showed a deficit in the deltoid, upper trapezius, supraspinatus, and also right winging of the scapula. She also exhibited weakness to right arm, weak right hand grip, and decreased sensation over the dorsal right hand. The right hand was also noticed to be colder to touch than the left one...
July 2017: U.S. Army Medical Department Journal
https://www.readbyqxmd.com/read/28821302/participation-of-adults-with-disorders-differences-of-sex-development-dsd-in-the-clinical-study-dsd-life-design-methodology-recruitment-data-quality-and-study-population
#8
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler
BACKGROUND: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality. METHODS/DESIGN: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes...
August 18, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28818972/fertile-offspring-from-sterile-sex-chromosome-trisomic-mice
#9
Takayuki Hirota, Hiroshi Ohta, Benjamin E Powell, Shantha K Mahadevaiah, Obah A Ojarikre, Mitinori Saitou, James M A Turner
Having the correct number of chromosomes is vital for normal development and health. Sex chromosome trisomy affects 0.1% of the human population and is associated with infertility. We show that during reprogramming to induced pluripotent stem cells (iPSCs), fibroblasts from sterile trisomic XXY and XYY mice lose the extra sex chromosome through a phenomenon we term trisomy-biased chromosome loss (TCL). Resulting euploid XY iPSCs can be differentiated into the male germ cell lineage and functional sperm that can be used in intracytoplasmic sperm injection to produce chromosomally normal, fertile offspring...
September 1, 2017: Science
https://www.readbyqxmd.com/read/28818098/sex-chromosomes-drive-gene-expression-and-regulatory-dimorphisms-in-mouse-embryonic-stem-cells
#10
Rachael J Werner, Bryant M Schultz, Jacklyn M Huhn, Jaroslav Jelinek, Jozef Madzo, Nora Engel
BACKGROUND: Pre-implantation embryos exhibit sexual dimorphisms in both primates and rodents. To determine whether these differences reflected sex-biased expression patterns, we generated transcriptome profiles for six 40,XX, six 40,XY, and two 39,X mouse embryonic stem (ES) cells by RNA sequencing. RESULTS: We found hundreds of coding and non-coding RNAs that were differentially expressed between male and female cells. Surprisingly, the majority of these were autosomal and included RNA encoding transcription and epigenetic and chromatin remodeling factors...
August 17, 2017: Biology of Sex Differences
https://www.readbyqxmd.com/read/28807998/immunogenicity-and-structures-of-a-rationally-designed-prefusion-mers-cov-spike-antigen
#11
Jesper Pallesen, Nianshuang Wang, Kizzmekia S Corbett, Daniel Wrapp, Robert N Kirchdoerfer, Hannah L Turner, Christopher A Cottrell, Michelle M Becker, Lingshu Wang, Wei Shi, Wing-Pui Kong, Erica L Andres, Arminja N Kettenbach, Mark R Denison, James D Chappell, Barney S Graham, Andrew B Ward, Jason S McLellan
Middle East respiratory syndrome coronavirus (MERS-CoV) is a lineage C betacoronavirus that since its emergence in 2012 has caused outbreaks in human populations with case-fatality rates of ∼36%. As in other coronaviruses, the spike (S) glycoprotein of MERS-CoV mediates receptor recognition and membrane fusion and is the primary target of the humoral immune response during infection. Here we use structure-based design to develop a generalizable strategy for retaining coronavirus S proteins in the antigenically optimal prefusion conformation and demonstrate that our engineered immunogen is able to elicit high neutralizing antibody titers against MERS-CoV...
August 29, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28804206/validation-of-auxological-reference-values-for-japanese-children-with-noonan-syndrome-and-comparison-with-growth-in-children-with-turner-syndrome
#12
Tsuyoshi Isojima, Satoru Sakazume, Tomonobu Hasegawa, Tsutomu Ogata, Toshio Nakanishi, Toshiro Nagai, Susumu Yokoya
We recently published growth references for Japanese individuals with Noonan syndrome (NS). However, it is uncertain whether these references can be used to evaluate the longitudinal growth of children with NS. In addition, these charts did not include detailed values suitable for clinical practice, and they did not include weight-for-height (WFH) charts. In the present study, we validated the references and established new WFH charts for children with NS. In addition, we investigated the growth patterns of these children by comparing them with those of children with Turner syndrome (TS), as well as with those of the normal population...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28782660/evaluation-and-management-of-primary-ovarian-insufficiency-in-adolescents-and-young-adults
#13
Rula V Kanj, Nana Ama Ofei-Tenkorang, Mekibib Altaye, Catherine M Gordon
STUDY OBJECTIVE: To identify clinical features associated with primary ovarian insufficiency (POI) and collect data on the evaluation and treatment received. DESIGN: Retrospective chart review. Data abstracted on etiology of POI, history, laboratory evaluation, imaging results, return for clinical care, and treatment plans. SETTING: Urban children's hospital in Cincinnati, Ohio. PARTICIPANT: s: 50 females, age 11-26 years, with initial presentation of POI between January 1, 2006-December 31, 2015...
August 3, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28774164/does-wastewater-discharge-have-relations-with-increase-of-turner-syndrome-and-down-syndrome
#14
Intae Choi
The purpose of this study is to examine whether water and air pollutants have a relationship with an increase in the genetic disorders Turner syndrome and Down syndrome, which are caused by congenital chromosomal abnormalities, and to generate a hypothesis about the genetic health effects of environmental pollutants. A panel regression based on random effect was conducted on Korea's metropolitan councils from 2012 to 2014. The dependent variable was the number of Turner syndrome and Down syndrome cases, and the main independent variables were those regarding the water and air pollution...
2017: Environmental Health and Toxicology
https://www.readbyqxmd.com/read/28768282/increased-non-high-density-lipoprotein-cholesterol-in-children-and-young-adults-with-turner-syndrome-is-not-explained-by-bmi-alone
#15
Jennifer C Kelley, Iris Gutmark-Little, Philippe Backeljauw, Vaneeta Bamba
BACKGROUND: Turner syndrome (TS) is associated with an increased risk of cardiovascular disease. Non-high-density lipoprotein cholesterol (non-HDL-C) is a convenient measure of atherogenicity (normal concentration <120 mg/dL) but has not been investigated in TS. We aim to evaluate non-HDL-C patterns in a cohort of pediatric and young adult females with TS. METHODS: A retrospective chart review was used to obtain demographics, body composition, genetic reports, and lipid profiles in females with TS...
August 2, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28767673/white-nose-syndrome-pathology-grading-in-nearctic-and-palearctic-bats
#16
Jiri Pikula, Sybill K Amelon, Hana Bandouchova, Tomáš Bartonička, Hana Berkova, Jiri Brichta, Sarah Hooper, Tomasz Kokurewicz, Miroslav Kolarik, Bernd Köllner, Veronika Kovacova, Petr Linhart, Vladimir Piacek, Gregory G Turner, Jan Zukal, Natália Martínková
While white-nose syndrome (WNS) has decimated hibernating bat populations in the Nearctic, species from the Palearctic appear to cope better with the fungal skin infection causing WNS. This has encouraged multiple hypotheses on the mechanisms leading to differential survival of species exposed to the same pathogen. To facilitate intercontinental comparisons, we proposed a novel pathogenesis-based grading scheme consistent with WNS diagnosis histopathology criteria. UV light-guided collection was used to obtain single biopsies from Nearctic and Palearctic bat wing membranes non-lethally...
2017: PloS One
https://www.readbyqxmd.com/read/28759527/18f-fdg-uptake-in-parsonage-turner-syndrome
#17
Gary Sem Wye Yoong, Arvind Kumar Sinha, Lih Kin Khor, Yazeed Nasser Bin Dous, James Thomas Patrick Decourcy Hallinan
A 55-year-old man with large B-cell lymphoma developed atraumatic left shoulder pain. F-FDG PET/CT revealed new left supraspinatus and infraspinatus muscle uptake while the initial disease resolved. Given the discrepancy between initial disease treatment response and new left shoulder findings, an MRI scan was performed. This demonstrated diffuse supraspinatus and infraspinatus muscle edema and enhancement with no focal lesion. Muscle biopsy was negative for lymphoma, but features of muscle denervation were seen...
October 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28753541/health-related-quality-of-life-among-children-with-turner-syndrome-controlled-cross-sectional-study
#18
Pascal Amedro, Nabil Tahhan, Helena Bertet, Claire Jeandel, Sophie Guillaumont, Thibault Mura, Marie-Christine Picot
BACKGROUND: The aim of the study was to assess health-related quality of life (HR-QoL) in children with Turner syndrome in comparison with controls. METHODS: We prospectively recruited 16 female girls with Turner syndrome (mean age 15.2±2.6 years) and 78 female controls (mean age 12.7±2.8 years) in randomly selected schools. We used the PedsQL, a generic HR-QoL questionnaire (self and parents' versions). RESULTS: Global HR-QoL scores in Turner syndrome were lower than controls for self-reports (respectively, 74...
August 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28753042/increased-detection-of-co-morbidities-with-evaluation-at-a-dedicated-adult-turner-syndrome-clinic
#19
A J Vincent, H H Nguyen, S Ranasinha, B Vollenhoven
OBJECTIVES: Turner syndrome (TS), resulting from complete/partial X chromosomal monosomy, is associated with multiple co-morbidities and increased mortality. Although multidisciplinary management is recommended, TS women's health care is sub-optimal. This study evaluates a multidisciplinary adult TS service. METHODS: Retrospective cohort study of 82 patients attending the quarterly TS clinic from December 2003 to December 2014. Evaluation included (1) demographics, (2) TS standardized co-morbidity screening, and (3) estrogen therapy use...
July 28, 2017: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/28739618/atypical-presentation-of-parsonage-turner-syndrome-confounded-by-surgical-rotator-cuff-injury
#20
Dustin Adam Greenhill, Hesham Abdelfattah, Joseph S Torg, Joseph Milo Sewards
Parsonage-Turner syndrome (PTS) is a rare neuropathy that commonly presents as unexpected severe shoulder and arm pain that eventually subsides while weakness or paralysis ensues. During exceptions to this classic presentation, confirming PTS can be challenging. Alternative causes of upper extremity pain may confound the diagnostic algorithm. Moreover, objective findings from necessary diagnostic tests depend on when those tests are performed. We present an atypical onset of PTS, whereby the initial presentation of severe neuropathic pain was preceded by mild shoulder pain that should decrease one's clinical suspicion for PTS...
July 24, 2017: BMJ Case Reports
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