Read by QxMD icon Read

Turners syndrome

Sarah E Sartain, Nancy A Turner, Joel L Moake
Atypical hemolytic uremic syndrome (aHUS) and bone marrow transplantation-associated thrombotic microangiopathy (TA-TMA) are associated with excessive activation of the alternative complement pathway (AP) and with severe renal - and rarely, cerebral - microvascular damage. Here, we compared AP activation and regulation in human glomerular and brain microvascular endothelial cells (GMVECs and BMVECs, respectively) unstimulated or stimulated by the proinflammatory cytokine, tumor necrosis factor (TNF). Compared with GMVECs and under both experimental conditions, BMVECs had increased gene expression of the AP-related genes C3 , CFB , and C5 , and decreased expression of CFD This was associated with increased expression in BMVECs (relative to GMVECs) of the genes for surface and soluble regulatory molecules ( CD46 , THBD , CD55 , CFI , and CFH ) suppressing formation of the AP C3 and C5 convertases...
March 19, 2018: Journal of Biological Chemistry
Niki Parikh, Robert Grand, Jayne McCauley, Ari Halldorsson, Cynthia Smith
Percutaneous suprapubic cystostomy (SPC) is a procedure performed to manage urinary retention when urethral catheterization is contraindicated or to improve the quality of life in cases such as neurogenic bladder. Although a simple procedure, it is associated with serious complications, increasing the morbidity and mortality. This case study demonstrates a delayed presentation of small bowel obstruction caused by a suprapubic catheter traversing through the ileal mesentery in a patient with no prior bowel surgeries...
March 2018: Urology Case Reports
C Deffrennes, M De Clercq, L Vallée, M-P Lemaître
Problems in mathematics are a frequent major complaint in neuropediatric departments, for which there are two explanatory theoretical models: the hypothesis of a genetic and modular origin (with a number sense deficit) and a multidetermined origin. The purpose of this paper is to review the mathematical difficulties described in Turner syndrome and Fragile X syndrome, because a specific mathematical disorder is usually reported in these populations, supporting the existence of a number sense. Analysis of the literature reveals highly variable cognitive phenotypes in these populations, especially regarding mathematical abilities...
March 14, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Honglei Zhang, Xing Yang, Xu Feng, Haibo Xu, Qin Yang, Li Zou, Mei Yan, Dequan Liu, Xiaosan Su, Baowei Jiao
The high-risk of tumor initiation in patients with Turner syndrome (TS) characterized by X chromosome monosomy in women has been well established and aneuploidy, defined as an abnormal number of chromosomes, is a common feature in human cancer. However, the underlying mechanisms of X chromosome aneuploidy promoting tumorigenesis remain obscure. We propose that chromosome-wide gene dosage imbalance (CDI) may serve as an important mechanism. Here, we assess the relative expression ratios of X chromosome and autosomes (expression ratios of X:AA) between tumor samples and adjacent normal samples across 16 tumor types using expression datasets from The Cancer Genome Atlas (TCGA) project...
March 15, 2018: Molecular Genetics and Genomics: MGG
Feng Suo, Chuangxia Wang, Tianya Liu, Yuan Fang, Qin Wu, Maosheng Gu, Lingshan Gou
BACKGROUND: Cell-free fetal DNA are widely used in the prenatal genetic testing during recent years. In the present study, we tried to investigate the clinical practical feasibility of non-invasive prenatal testing (NIPT) for prenatal sex chromosome aneuploidy (SCA) analysis among pregnancies in Xuzhou area of China. METHODS: Among a cohort of 8384 pregnancies, maternal plasma samples from our prenatal diagnosis center was subject to the analysis for SCA using NIPT detection...
March 12, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Joachim Woelfle, Anders Lindberg, Ferah Aydin, Ken K Ong, Cecilia Camacho-Hubner, Bettina Gohlke
Background: Whether children with chromosomal disorders of growth and puberty are affected by secular trends (STs) as observed in the general population remains unanswered, but this question has relevance for expectations of spontaneous development and treatment responses. Objectives: The aim of the study was to evaluate STs in birth parameters, growth, and pubertal development in girls with Turner syndrome (TS). Study design: Retrospective analysis of KIGS data (Pfizer International Growth Database)...
2018: Frontiers in Endocrinology
Nataliya Zelinska, Iryna Shevchenko, Evgenia Globa
BACKGROUND: We investigated the prevalence of Turner syndrome (TS) in Ukrainian population, the frequency of karyotype variants, the age of children at diagnosis, the degree of short stature and phenotypic features in TS girls. MATERIAL AND METHODS: A retrospective analyses was made in 538 TS girls aged 0.11-18.2 years old within the period of 2005-2015 with detailed examination of 150 patients. RESULTS AND DISCUSSION: The prevalence of TS in Ukraine is 77...
February 28, 2018: Journal of Clinical Research in Pediatric Endocrinology
Peter Murin, Nicodème Sinzobahamvya, Antonia Schulz, Victoria Lorenzen, Stanislav Ovroutski, Felix Berger, Joachim Photiadis, Mi-Young Cho
OBJECTIVES: The technique of subcoronary autograft implantation for the Ross procedure has shown excellent durability of aortic valve function in adults. However, its use in children with hypoplastic aortic annulus or multilevel left ventricular outflow tract obstruction (LVOTO) was traditionally precluded. We combined this technique with a Konno incision and evaluated LVOTO relief and durability of the autograft function in growing patients. METHODS: Between January 2012 and January 2017, 13 patients with severe LVOTO and hypoplastic aortic annulus underwent Ross-Konno procedure with subcoronary autograft implantation...
March 9, 2018: Interactive Cardiovascular and Thoracic Surgery
Wacław Jeż, Beata Tobiasz-Adamczyk, Piotr Brzyski, Mikołaj Majkowicz, Piotr Pankiewicz, Tomasz J Irzyniec
BACKGROUND: Turner syndrome (TS) appears in women as a result of the lack of part or the whole of one of the X chromosomes. It is characterized by the occurrence of low height, hypogonadism, numerous developmental defects, and is often accompanied by psychological disturbances. OBJECTIVES: Although the phenotype characteristics of women with TS are quite well documented, the knowledge of the impact of Turner syndrome on the satisfaction with life is still insufficient...
February 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Dan Xue, Dong-Hua Cao, Kai Mu, Yuan Lv, Jun Yang
Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal disorder. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported. Here, we report a fetus with a mosaic karyotype: mos 45,X/46,X,del(Y)(q11.21). The fetus was initially misdiagnosed as female with Turner syndrome by both noninvasive prenatal testing and cytogenetic analysis of amniotic fluid and was subsequently found to have male anatomy by antenatal ultrasonography at 24 weeks gestational age...
March 8, 2018: Journal of Obstetrics and Gynaecology Research
Kunihiko Hanew, Toshiaki Tanaka, Reiko Horikawa, Tomonobu Hasegawa, Susumu Yokoya
The reported prevalence of complications in Turner Syndrome (TS) was highly variable because of the rarity and the limited numbers analyzed. Again, possible presence of other complications that are not described as specific for TS, is also speculated. To resolve these issues, a questionnaire survey was conducted in hGH treated 492 patients with adult TS (17-42 years). The possible association with these complications and karyotypes were also analyzed. The complications and their prevalence were as follows: chronic thyroiditis (25...
March 7, 2018: Endocrine Journal
Diana-Alexandra Ertl, Andreas Gleiss, Katharina Schubert, Caroline Culen, Peer Hauck, Johannes Ott, Alois Gessl, Gabriele Haeusler
BACKGROUND: Previous studies have shown that only a minority of patients with Turner syndrome (TS) have adequate medical care after transfer to adult care. AIM OF THIS STUDY: To assess the status of medical care and quality of life (QoL) in adult women diagnosed with TS and followed-up until transfer. To compare the subjective and objective view of the medical care quality and initiate improvements based on patients' experiences and current recommendations. METHODS: 39 adult women with TS out of 64 patients contacted were seen for a clinical and laboratory check, cardiac ultrasound, standardized and structured questionnaires (SF-36v2 and Beck depression inventory)...
March 7, 2018: Endocrine Connections
Stephen Keddie, Ashok Adams, Andrew R C Kelso, Benjamin Turner, Klaus Schmierer, Sharmilee Gnanapavan, Andrea Malaspina, Gavin Giovannoni, Ian Basnett, Alastair J Noyce
BACKGROUND: Whilst the dangers of 'legal highs' have been widely publicised in the media, very few cases of the neurological syndrome associated with the inhalation of nitrous oxide (N2 O) have been reported. Here we set out to raise awareness of subacute degeneration of the spinal cord arising from recreational N2 O use so that formal surveillance programs and public health interventions can be designed. METHODS: Case series documenting the clinical and investigational features of ten consecutive cases of subacute degeneration of the spinal cord presenting to a hospital with a tertiary neurosciences service in East London...
March 3, 2018: Journal of Neurology
Asma Javed, Zaraq Khan, Siobhan T Pittock, Jani R Jensen
Fertility preservation therapies can conserve future reproductive potential for persons facing serious medical diagnoses. With cure rates for childhood cancer reaching almost 80%, quality-of-life concerns for long-term survivors, including future parenting, are becoming more pertinent. Late effects of childhood cancer can be divided into physical, social, psychological, and spiritual domains. Potential loss of fertility threatens the well-being of these children in all these domains. Providers often hesitate to discuss fertility preservation with the patients...
March 2018: Pediatric Endocrinology Reviews: PER
Qiping Hu, Hongyan Chai, Wei Shu, Peining Li
Background: Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic behavior of ring chromosome through cell cycles. Chromosomal and regional specific phenotypes likely result from segmental losses and gains during the ring formation. Although recent applications of genomic copy number and sequencing analyses revealed various ring chromosome structures from an increasing number of case studies, there was no organized effort for compilating and curating cytogenomic and clinical finding for ring chromosomes...
2018: Molecular Cytogenetics
Peta M A Alexander, Alan W Nugent, Piers E F Daubeney, Katherine J Lee, Lynn A Sleeper, Tibor Schuster, Christian Turner, Andrew M Davis, Chris Semsarian, Steven D Colan, Terry Robertson, James Ramsay, Robert Justo, Gary F Sholler, Ingrid King, Robert G Weintraub
Background -Late survival and symptomatic status of children with hypertrophic cardiomyopathy (HCM) have not been well defined. We examined long-term outcomes for pediatric HCM. Methods -The National Australian Childhood Cardiomyopathy Study is a longitudinal population-based cohort study of children (0-10 years) diagnosed with cardiomyopathy between 1987 and 1996. The primary study end-point was time to death or cardiac transplantation. Results -There were 80 patients with HCM with median age at diagnosis of 0...
February 28, 2018: Circulation
Yael Lebenthal, Sigal Levy, Efrat Sofrin-Drucker, Nessia Nagelberg, Naomi Weintrob, Shlomit Shalitin, Liat de Vries, Ariel Tenenbaum, Moshe Phillip, Liora Lazar
Objective: Patients with Turner syndrome (TS) are at increased risk for metabolic disorders. We aimed to delineate the occurrence and evolution of metabolic comorbidities in TS patients and to determine whether these differ in 45,X monosomy and other karyotypes. Methods: A longitudinal and cross-sectional retrospective cohort study was conducted in a tertiary pediatric endocrine unit during 1980-2016. Ninety-eight TS patients, 30 with 45,X monosomy were followed from childhood to early adulthood...
2018: Frontiers in Endocrinology
Aneta Monika Gawlik, Magdalena Hankus, Kamila Szeliga, Aleksandra Antosz, Tomasz Gawlik, Kamil Soltysik, Agnieszka Drosdzol-Cop, Krzysztof Wilk, Grzegorz Kudela, Tomasz Koszutski, Ewa Malecka-Tendera
Objective: Estrogen replacement therapy (ERT) for Turner syndrome (TS) is a widely discussed topic; however, the optimal model of ERT for patients with delayed diagnosis and/or initiation of therapy is still unclear, mainly due to insufficient data. We present the results of a prospective observational single-center study in which the efficacy of late-onset puberty induction by one-regimen transdermal ERT in TS girls was evaluated. Methods: The analysis encompassed 49 TS girls (63...
2018: Frontiers in Endocrinology
Ai Sakamoto, Yasuhiko Kamada, Kotaro Kubo, Toru Hasegawa, Sayoko Kotani, Mikiya Nakatsuka, Yuji Hiramatsu
Establishing whether miscarriages result from fetal aneuploidy or other factors is important for treating recurrent pregnancy loss. We examined the relationship between fetal heart rate (FHR) before miscarriage in the early first trimester and fetal karyotype, analyzing 223 pregnant women with recurrent pregnancy loss. Among the pregnancies, 110 resulted in live births regarded as normal karyotype (the Norm-group). The other 113 pregnancies ended in miscarriage, and we categorized them into groups based on fetal karyotype, determined by chorionic villus sampling: the Misc-NK (normal karyotype) group, n=35 euploid cases; the Misc-CA1 (chromosomal abnormality) group, n=18 cases of aneuploidy with trisomies 13/18/21, Turner's syndrome, or Klinefelter's syndrome; and the Misc-CA2 subgroup, n=60 cases of other aneuploidies excluding those in the Misc-CA1 group...
February 2018: Acta Medica Okayama
Darryl B Sneag, Schneider K Rancy, Scott W Wolfe, Susan C Lee, Vivek Kalia, Steve K Lee, Joseph H Feinberg
INTRODUCTION: The aim of this study was to characterize lesion distribution in Parsonage-Turner Syndrome (PTS) using high-resolution MRI. METHODS: The MRIs of 27 patients with clinically confirmed PTS were reviewed. Two radiologists independently evaluated the brachial plexus proper, side and terminal plexus branches, and more distal, upper extremity nerves. RESULTS: All patients had at least 1 clinically involved nerve. On MRI, the plexus appeared normal in 24/27 patients; in 3 others, signal hyperintensity was seen immediately proximal to the take-off of abnormal side or terminal branch nerves...
February 20, 2018: Muscle & Nerve
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"