keyword
MENU ▼
Read by QxMD icon Read
search

Turner syndrom

keyword
https://www.readbyqxmd.com/read/28055140/eif2s3-mutations-associated-with-severe-x-linked-intellectual-disability-syndrome-mehmo
#1
Martina Skopkova, Friederike Hennig, Byung-Sik Shin, Clesson E Turner, Daniela Stanikova, Katarina Brennerova, Juraj Stanik, Ute Fischer, Lyndal Henden, Ulrich Müller, Daniela Steinberger, Esther Leshinsky-Silver, Armand Bottani, Timea Kurdiova, Jozef Ukropec, Olga Nyitrayova, Miriam Kolnikova, Iwar Klimes, Guntram Borck, Melanie Bahlo, Stefan A Haas, Joo-Ran Kim, Leda E Lotspeich-Cole, Daniela Gasperikova, Thomas E Dever, Vera M Kalscheuer
Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded-protein response has been identified as a cause of several multi-systemic syndromes. Here we link MEHMO syndrome, whose genetic etiology was unknown, to this group of disorders. MEHMO is a rare X-linked syndrome characterized by profound intellectual disability, epilepsy, hypogonadism, and hypogenitalism, microcephaly, and obesity. We have identified a C-terminal frameshift mutation (Ile465Serfs) in the EIF2S3 gene in three families with MEHMO syndrome and a novel maternally inherited missense EIF2S3 variant (c...
January 5, 2017: Human Mutation
https://www.readbyqxmd.com/read/28049529/analysis-of-the-factors-affecting-the-evolution-over-time-of-subclinical-hypothyroidism-in-children
#2
EDITORIAL
Mariella Valenzise, Tommaso Aversa, Giuseppina Zirilli, Giuseppina Salzano, Domenico Corica, Simona Santucci, Filippo De Luca
Aim of this commentary is to report the most recent views about natural history of subclinical hypothyroidism (SH) according to the different etiologies. In children with idiopathic SH the natural evolution is often favourable, with a high percentage of cases reverting to euthyroidism or remaining SH even after a prolonged follow-up. By contrast, the risk of a significant deterioration of thyroid status is distinctly higher in the SH children with Hashimoto's thyroiditis (HT). This risk is even higher in the cases with both HT-related SH and chromosomal abnormalities, such as Turner or Down's syndrome...
January 3, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28044362/the-electrodiagnostic-natural-history-of-parsonage-turner-syndrome
#3
Joseph H Feinberg, Elizabeth T Nguyen, Kwadwo Boachie-Adjei, Caitlin Gribbin, Steve K Lee, Aaron Daluiski, Scott W Wolfe
Introduction Recovery from Parsonage-Turner syndrome (PTS) is generally favorable, although recovery times have varied, in part because there are no universally-accepted outcome measures. This study describes the electrodiagnostic natural history of this condition based on objective electrodiagnostic testing, and proposes that complete electrodiagnostic recovery can be seen as early as 1 year. Methods Twenty-six subjects with 29 affected nerves confirmed as PTS were followed every 3 months for electrodiagnostic testing, or until full reinnervation was confirmed...
January 3, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28032208/hormone-replacement-therapy-in-turner-syndrome-is-important-a-new-meta-analysis-points-at-many-shortcomings-in-the-available-literature
#4
EDITORIAL
Claus H Gravholt
No abstract text is available yet for this article.
December 28, 2016: Endocrine
https://www.readbyqxmd.com/read/28027325/using-a-novel-partitivirus-in-pseudogymnoascus-destructans-to-understand-the-epidemiology-of-white-nose-syndrome
#5
Vaskar Thapa, Gregory G Turner, Susan Hafenstein, Barrie E Overton, Karen J Vanderwolf, Marilyn J Roossinck
White-nose syndrome is one of the most lethal wildlife diseases, killing over 5 million North American bats since it was first reported in 2006. The causal agent of the disease is a psychrophilic filamentous fungus, Pseudogymnoascus destructans. The fungus is widely distributed in North America and Europe and has recently been found in some parts of Asia, but interestingly, no mass mortality is observed in European or Asian bats. Here we report a novel double-stranded RNA virus found in North American isolates of the fungus and show that the virus can be used as a tool to study the epidemiology of White-nose syndrome...
December 2016: PLoS Pathogens
https://www.readbyqxmd.com/read/28027064/novel-pathogenic-variant-in-the-hras-gene-with-lethal-outcome-and-a-broad-phenotypic-spectrum-among-polish-patients-with-costello-syndrome
#6
Magdalena Pelc, Elżbieta Ciara, Aleksandra Jezela-Stanek, Monika Kugaudo, Agata Cieślikowska, Dorota Jurkiewicz, Magdalena Janeczko, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Agata Skórka
Costello syndrome (CS) is a rare congenital disorder from the group of RASopathies, characterized by a distinctive facial appearance, failure to thrive, cardiac and skin anomalies, intellectual disability, and a predisposition to neoplasia. CS is associated with germline mutations in the proto-oncogene HRAS, a small GTPase from the Ras family. In this study, a molecular and clinical analysis was carried out in eight Polish patients with the Costello phenotype. A molecular test showed two known heterozygous mutations in the first coding exon of the gene in seven patients: p...
December 23, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28026791/intelligent-non-invasive-diagnosis-of-aneuploidy-raw-values-and-highly-imbalanced-dataset
#7
Andreas Neocleous, Kypros Nicolaides, Christos Schizas
The objective of this work is to introduce a noninvasive diagnosis procedure for aneuploidy and minimize the social and financial cost of prenatal diagnosis tests that are performed for fetal aneuploidies in an early stage of pregnancy. We propose a method using artificial neural networks trained with data from singleton pregnancy cases, while undergoing first trimester screening. Three different datasets1 with a total of 122362 euploid and 967 aneuploid cases were used in this study. The data for each case contained markers collected from the mother and the fetus...
December 22, 2016: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28018463/concomitant-occurrence-of-turner-syndrome-and-growth-hormone-deficiency
#8
Jung Yu, Ha Young Shin, Chong Guk Lee, Jae Hyun Kim
Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar...
November 2016: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28005757/correction-of-pterygium-colli-in-turner-syndrome-a-clinical-report-and-review-of-the-surgical-management
#9
Richard Ben Lou, Petros Konofaos, Robert D Wallace
The aim of surgery for pterygium colli (PC) is to correct the contour deformity, redistribute or remove the horizontal excess of skin, address the abnormal posterior hairline, avoid excessive scarring, and prevent recurrence. The purpose of this study is to review the available methods to correct the deformity and highlight a recent patient performed by the senior author. A modified bilateral Z-plasty technique was used for correcting PC on a 5-year-old African American girl diagnosed with Turner syndrome. The patient had an uneventful postoperative period and satisfactory functional and esthetic results were demonstrated at 1 year follow-up...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27998207/application-of-the-rat-grimace-scale-as-a-marker-of-supraspinal-pain-sensation-after-cervical-spinal-cord-injury
#10
Lonnie E Schneider, Kathryn Y Henley, Omari A Turner, Betty M Pat, Tracy L Niedzielko, Candace L Floyd
Experimental models of neuropathic pain (NP) typically rely on withdrawal responses to assess the presence of pain. Reflexive withdrawal responses to a stimulus are used to evaluate evoked pain and as such do not include the assessment of spontaneous NP nor evaluation of the affective and emotional consequences of pain in animal models. Additionally, withdrawal responses can be mediated by spinal cord reflexes and may not accurately indicate supraspinal pain sensation. This is especially true in models of traumatic spinal cord injury (SCI) wherein spastic syndrome, a motor disorder characterized by exaggeration of the stretch reflex that is secondary to hyperexcitability of the spinal reflex, can cause paroxysmal withdrawals not associated with NP sensation...
December 21, 2016: Journal of Neurotrauma
https://www.readbyqxmd.com/read/27997249/dosage-of-sex-chromosomal-genes-in-blood-deposited-on-filter-paper-for-neonatal-screening-of-sex-chromosome-aneuploidy
#11
Luis Daniel Campos-Acevedo, Marisol Ibarra-Ramirez, José de Jesús Lugo-Trampe, Michelle de Jesús Zamudio-Osuna, Iris Torres-Muñoz, Ma Del Roble Velasco-Campos, Luz Rojas-Patlan, Irám Pablo Rodríguez-Sánchez, Laura Elia Martínez-de-Villarreal
AIMS: In this study, we examined the doses of the stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY genes to establish a protocol for using peripheral blood samples deposited on filter paper for the screening of sex chromosome aneuploidy in neonates. We also measured correlations with karyotypes to assess this method as a neonatal screening strategy. MATERIALS AND METHODS: This was an observational, descriptive, comparative blind study...
December 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27988477/effectiveness-and-tolerability-of-antiepileptic-drugs-in-104-girls-with-rett-syndrome
#12
Aglaia Vignoli, Miriam Nella Savini, Maria Sonia Nowbut, Angela Peron, Katherine Turner, Francesca La Briola, Maria Paola Canevini
: Approximately 60-80% of girls with Rett Syndrome (RTT) have epilepsy, which represents one of the most severe problems clinicians have to deal with, especially when patients are 7-12years old. The aim of this study was to analyze the antiepileptic drugs (AEDs) prescribed in RTT, and to assess their effectiveness and tolerability in different age groups from early infancy to adulthood. We included in this study 104 girls, aged 2-42years (mean age 13.9years): 89 had a mutation in MECP2, 5 in CDKL5, 2 in FOXG1, and the mutational status was unknown in the remaining 8...
December 15, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27976569/horseshoe-kidney-with-growth-retardation-don-t-forget-turner-syndrome
#13
Seçil Arslansoyu-Çamlar, Alper Soylu, Ayhan Abacı, Mehmet Atilla Türkmen, Ayfer Ülgenalp, Salih Kavukçu
Horseshoe kidney is the most frequent renal fusion anomaly that is usually asymptomatic and isolated malformation. However it can be seen with various syndromes and chromosomal anomalies. It was reported that 15-35% of Turner syndrome cases (TS) also display horseshoe kidney condition. TS is a chromosomal anomaly that had been characterized by delayed puberty, short body height and gonadal dysgenesis. In this report a five-year-old girl with horseshoe kidney, which has growth retardation during follow-up as only symptom of Turner syndrome...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27965396/the-tough-body-at-the-epicentre-of-amyotrophic-lateral-sclerosis
#14
EDITORIAL
Martin R Turner, Ricarda A L Menke
No abstract text is available yet for this article.
December 13, 2016: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/27956443/motor-neuron-disease-biomarker-development-for-an-expanding-cerebral-syndrome
#15
Martin R Turner
Descriptions of motor neuron disease (MND) documented more than a century ago remain instantly recognisable to the physician. The muscle weakness, typically with signs of upper and lower motor neuron dysfunction, is uniquely relentless. Over the last 30 years, a wider cerebral pathology has emerged, despite the lack of overt cognitive impairment in the majority of patients. From the initial linkage of a small number of cases to mutations in SOD1, diverse cellular pathways have been implicated in pathogenesis...
December 2016: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/27926952/growth-hormone-treatment-increases-plasma-irisin-concentration-in-patients-with-turner-syndrome
#16
B Wikiera, K Zawadzka, Ł Łaczmański, N Słoka, M Bolanowski, A Basiak, A Noczyńska, J Daroszewski
Irisin (Ir) deficiency may be a contributing factor in metabolic disease. This study aimed to investigate the effect of supraphysiological doses of recombinant human growth hormone (rhGH) on Ir plasma concentration in relation to metabolic disorders, including obesity and other components of metabolic syndrome. We studied 36 girls with Turner syndrome (mean age 8.2 years) treated with rhGH (0.05 mg/kg/day). Anthropometric data and fasting blood levels [e. g., Ir, insulin, glucose, glycated hemoglobin (HbA1c), IGF-1, IGFBP-3, cholesterol, insulin resistance (HOMA-IR), and β-cell function (HOMA-β)] were analyzed prior to and following rhGH therapy [mean (SD) follow-up of 1...
December 7, 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27920363/detection-of-imprinting-effects-for-qualitative-traits-on-x-chromosome-based-on-nuclear-families
#17
Ji-Yuan Zhou, Xiao-Ping You, Ran Yang, Wing Kam Fung
Methods for detecting imprinting effects have been developed primarily for autosomal markers. However, no method is available in the literature to test for imprinting effects on X chromosome. Therefore, it is necessary to suggest methods for detecting such imprinting effects. In this article, the parental-asymmetry test on X chromosome (XPAT) is first developed to test for imprinting for qualitative traits in the presence of association, based on family trios each with both parents and their affected daughter...
January 1, 2016: Statistical Methods in Medical Research
https://www.readbyqxmd.com/read/27916781/gradually-increasing-ethinyl-estradiol-for-turner-syndrome-may-produce-good-final-height-but-not-ideal-bmd
#18
Yukihiro Hasegawa, Daisuke Ariyasu, Masako Izawa, Junko Igaki-Miyamoto, Mami Fukuma, Megumi Hatano, Hiroko Yagi, Masahiro Goto
Estrogen replacement therapy in Turner syndrome should theoretically mimic the physiology of healthy girls. The objective of this study was to describe final height and bone mineral density (BMD) in a group of 17 Turner syndrome patients (group E) who started their ethinyl estradiol therapy with an ultra-low dosage (1-5 ng/kg/day) from 9.8˜13.7 years. The subjects in group E had been treated with GH 0.35 mg/kg/week since the average age of 7.4 years. The 30 subjects in group L, one of the historical groups, were given comparable doses of GH, and conjugated estrogen 0...
December 2, 2016: Endocrine Journal
https://www.readbyqxmd.com/read/27913926/maxillary-length-in-euploid-and-aneuploid-fetuses
#19
Markus Hoopmann, Jiri Sonek, Dominik Goldschmid, Philipp Wagner, Harald Abele, Karl Oliver Kagan
PURPOSE: To examine the maxillary length of euploid and aneuploid fetuses in the second and third trimester. METHODS: Retrospective study utilizing stored 2D images of second and third trimester fetal profiles obtained at the University of Tuebingen, Germany. The length of the maxilla was measured as a straight line between the anterior ventral and posterior ventral edges of the maxilla. RESULTS: The study population consisted of 347 euploid fetuses and 122, 36, 5, 8, and 4 fetuses with trisomy 21, 18, and 13, Turner syndrome, and triploidy...
December 2, 2016: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/27912889/hormone-replacement-therapy-in-young-women-with-primary-ovarian-insufficiency-and-early-menopause
#20
REVIEW
Shannon D Sullivan, Philip M Sarrel, Lawrence M Nelson
Primary ovarian insufficiency (POI) is a rare but important cause of ovarian hormone deficiency and infertility in women. In addition to causing infertility, POI is associated with multiple health risks, including bothersome menopausal symptoms, decreased bone density and increased risk of fractures, early progression of cardiovascular disease, psychologic impact that may include depression, anxiety, and decreased perceived psychosocial support, potential early decline in cognition, and dry eye syndrome. Appropriate hormone replacement therapy (HRT) to replace premenopausal levels of ovarian sex steroids is paramount to increasing quality of life for women with POI and ameliorating associated health risks...
December 2016: Fertility and Sterility
keyword
keyword
57065
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"