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"Turner Syndrome"

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https://www.readbyqxmd.com/read/29136134/asymptomatic-dissection-of-a-giant-aorta-ascendens-aneurysm-in-turner-syndrome
#1
Piotr Dobrowolski, Anna Klisiewicz, Ilona Michalowska, Mariusz Kusmierczyk, Piotr Hoffman
No abstract text is available yet for this article.
November 10, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29135076/a-heterozygous-mutation-in-rpgr-associated-with-x-linked-retinitis-pigmentosa-in-a-patient-with-turner-syndrome-mosaicism-45-x-46-xx
#2
Qi Zhou, Fengxia Yao, Feng Wang, Hui Li, Rui Chen, Ruifang Sui
Turner syndrome with retinitis pigmentosa (RP) is rare, with only three cases reported based on clinical examination alone. We summarized the 4-year follow-up and molecular findings in a 28-year-old patient with Turner syndrome and the typical features of short stature and neck webbing, who also had X-linked RP. Her main complaints were night blindness and progressive loss of vision since the age of 9 years. Ophthalmologic examination, optical coherent tomographic imaging, and visual electrophysiology tests showed classic manifestations of RP...
November 14, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29125628/genomics-based-non-invasive-prenatal-testing-for-detection-of-fetal-chromosomal-aneuploidy-in-pregnant-women
#3
REVIEW
Mylène Badeau, Carmen Lindsay, Jonatan Blais, Leon Nshimyumukiza, Yemisi Takwoingi, Sylvie Langlois, France Légaré, Yves Giguère, Alexis F Turgeon, William Witteman, François Rousseau
BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method...
November 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29075118/the-comorbidity-of-bipolar-disorder-diabetes-mellitus-and-autoimmune-hypothyroidism-in-an-adult-woman-with-turner-s-syndrome-a-case-report
#4
Jinling Li, Xiaohong Hong, Haiyun Xu
Turner's syndrome (TS) is the most common sex chromosome abnormality in females and characterized with short stature and ovarian dysgenesis. Patients with TS may also present many other physical diseases and mental disorders. In this case report, we present a 49-year-old woman with TS, who also met criteria for bipolar disorder, type 2 diabetes mellitus, and autoimmune hypothyroidism. The patient was admitted to the mental health center for depressive symptoms in 1991 and was misdiagnosed as hypopituitarism, which was not corrected until 2005 when her karyotype of 45, X/46, X, i(Xq) was identified...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29073306/-y-chromosome-in-turner-syndrome
#5
REVIEW
Aleksandra Rojek, Karolina Kwasiuk, Monika Obara-Moszyńska, Zofia Kolesińska, Marek Niedziela
Turner syndrome (TS) is an inherited genetic disorder caused by numerical and/or structural chromosome X aberrations occurring at a frequency of 1:1200-1:2500 live-born girls. The most common karyotype is X chromosome monosomy (45,X) (approximately 50-60% of cases). Approximately 5-6% of patients may have abnormal Y chromosome or mosaicism characterized by the coexistence of 45,X cell line with cell line in which all or part of chromosome Y is present. In patients with TS who have all or fragmented genetic material from chromosome Y there is a substantial risk of cancerous lesions in these dysgenetic gonads...
2017: Pediatric Endocrinology, Diabetes, and Metabolism
https://www.readbyqxmd.com/read/29026275/a-case-of-45-x-47-xxx-mosaic-turner-syndrome-with-limb-length-discrepancy
#6
Nozomi Hishimura-Yonemaru, Koji Okuhara, Nobuhiro Takahashi, Hidefumi Tonoki, Susumu Iizuka, Toshihiro Tajima
Patients with Turner syndrome (TS) frequently show short stature and skeletal deformities, such as kyphosis and scoliosis. However, to the best of our knowledge, limb length discrepancy (LLD) has not yet been reported in patients with TS. The case of a 12-yr-old girl with 45,X/47,XXX mosaic TS showing LLD is herein presented. She was on GH therapy for short stature and was noted to have scoliosis in the standing position at a regular examination; however, the scoliosis became less evident in the supine position, which is indicative of LLD...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29022424/cytogenetic-analysis-of-patients-with-primary-amenorrhea-in-eastern-india
#7
Shanoli Ghosh, Sanchita Roy, Pritha Pal, Atreyee Dutta, Ajanta Halder
Amenorrhea is the absence of menstruation in women of reproductive age. Previous reports suggest that chromosomal abnormality is the second most common cause of amenorrhoea. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in amenorrhoea patients. This was an observational study which was conducted in Vivekananda Institute of Medical sciences, Kolkata, during January 2013-December 2015. This study aims to estimate the frequency and types of chromosomal abnormalities in primary amenorrhoea (PA) patients in Eastern India and correlate their hormonal profile with chromosomal reports...
October 12, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29021279/long-term-fragility-of-y-chromosomes-is-dominated-by-short-term-resolution-of-sexual-antagonism
#8
Heath Blackmon, Yaniv Brandvain
The evolution of heteromorphic sex chromosomes has fascinated biologists, inspiring theoretical models, experimental studies, and studies of genome structure. This work has produced a clear model, in which heteromorphic sex chromosomes result from repeated fixations of inversions (or other recombination suppression mechanisms) that tether sexually antagonistic alleles to sex-determining regions, followed by the degeneration of these regions induced by the lack of sex chromosome recombination in the heterogametic sex...
October 11, 2017: Genetics
https://www.readbyqxmd.com/read/28987660/partial-anomalous-pulmonary-venous-return-in-turner-syndrome
#9
Allard T van den Hoven, Raluca G Chelu, Anthonie L Duijnhouwer, Laurent Demulier, Daniel Devos, Koen Nieman, Maarten Witsenburg, Annemien E van den Bosch, Bart L Loeys, Iris M van Hagen, Jolien W Roos-Hesselink
PURPOSE: The aim of this study is to describe the prevalence, anatomy, associations and clinical impact of partial anomalous pulmonary venous return in patients with Turner syndrome. METHODS AND RESULTS: All Turner patients who presented at our Turner clinic, between January 2007 and October 2015 were included in this study and underwent ECG, echocardiography and advanced imaging such as cardiac magnetic resonance or computed tomography as part of their regular clinical workup...
October 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28981595/x-chromosome-effects-on-attention-networks-insights-from-imaging-resting-state-networks-in-turner-syndrome
#10
Tamar Green, Manish Saggar, Alexandra Ishak, David S Hong, Allan L Reiss
Attention deficit hyperactivity disorder (ADHD) is strongly affected by sex, but sex chromosomes' effect on brain attention networks and cognition are difficult to examine in humans. This is due to significant etiologic heterogeneity among diagnosed individuals. In contrast, individuals with Turner syndrome (TS), who have substantially increased risk for ADHD symptoms, share a common genetic risk factor related to the absence of the X-chromosome, thus serving as a more homogeneous genetic model. Resting-state functional MRI was employed to examine differences in attention networks between girls with TS (n = 40) and age- sex- and Tanner-matched controls (n = 33)...
July 18, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28975819/surgical-and-clinical-decision-making-in-isolated-long-thoracic-nerve-palsy
#11
Shelley S Noland, Emily M Krauss, John M Felder, Susan E Mackinnon
BACKGROUND: Isolated long thoracic nerve palsy results in scapular winging and destabilization. In this study, we review the surgical management of isolated long thoracic nerve palsy and suggest a surgical technique and treatment algorithm to simplify management. METHODS: In total, 19 patients who required surgery for an isolated long thoracic nerve palsy were reviewed retrospectively. Preoperative demographics, electromyography (EMG), and physical examinations were reviewed...
October 1, 2017: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/28969808/management-of-atraumatic-posterior-interosseous-nerve-palsy
#12
REVIEW
Kohila Vani Sigamoney, Abbas Rashid, Chye Yew Ng
The posterior interosseous nerve (PIN) is susceptible to a number of traumatic and atraumatic pathologies. In this article, we aim to review our current understanding of the etiology, pathology, diagnosis, treatment options, and published outcomes of atraumatic PIN palsy. In general, the etiology of atraumatic PIN palsy can be divided into mechanical, which is caused by an extrinsic compressive force on the nerve, and nonmechanical, which is caused by an intrinsic inflammatory reaction within the nerve. As per this discussion, there are 3 causes for atraumatic PIN palsy...
October 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28962153/turner-syndrome-caused-by-rare-complex-structural-abnormalities-involving-chromosome-x
#13
Niu Li, Li Zhao, Juan Li, Yu Ding, Yongnian Shen, Xiaodong Huang, Xiumin Wang, Jian Wang
Turner syndrome (TS) is a phenotypic heterogeneous genetic disorder caused by the loss of an X-chromosome or X-structural abnormalities in the X-chromosome, and affects approximately 1 in every 2,500 females. The affected individuals may develop diverse clinical features, including short stature, ovarian dysgenesis, skeletal dysplasia, facial abnormalities and other disorders. A constitutional karyotype of 45, X accounts for nearly 50% of TS patients, while X-mosaicism and other X-chromosomal structural abnormalities, including deletions, duplications, ring, isodicentric chromosomes, inversions and translocations, have been reported in other cases...
September 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28956267/acute-shoulder-pain-followed-by-shoulder-weakness-and-atrophy-a-characteristic-presentation-of-parsonage-turner-syndrome
#14
Sneha Sundaram, Ingeborg Schafhalter-Zoppoth
No abstract text is available yet for this article.
September 27, 2017: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/28941966/otologic-disorders-in-turner-syndrome
#15
E Bois, M Nassar, D Zenaty, J Léger, T Van Den Abbeele, N Teissier
INTRODUCTION: Patients with Turner syndrome (TS) have craniofacial malformations, such as Eustachian tube hypoplasia and dysfunction and velar dysfunction, which foster acute otitis media. The aim of this study was to inventory pediatric otologic disorders in patients with TS at their first ENT consultation in our center. PATIENTS AND METHODS: We reviewed the ENT consultation data of pediatric TS patients followed in our center between 2005 and 2015: otoscopy, hearing threshold, and history of acute otitis media or ENT surgery...
September 20, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28934068/upper-limb-hemimelia-in-a-twin-pregnancy-which-was-obtained-by-an-icsi-and-pgd-in-a-woman-with-mosaic-turner-s-syndrome-and-the-prognosis
#16
Ahter Tanay Tayyar, Ahmet Tayyar, Ahmet Eser, Çetin Kılıçcı, İlter Yenidede, Selçuk Selçuk
Turner's syndrome (TS) is depicted as a total or partial absence of X chromosome, and occurs in approximately 1/2200 of live born females. Generally, mosaic patients are diagnosed following karyotype analysis due to recurrent pregnancy loss, repeated in vitro fertilization (IVF) failure, and a history of malformed babies. The purpose of this case report is to show that even a selection of normal karyotype embryos can result in abnormalities for those with mosaic TS. A 32-year old patient who underwent IVF after ICSI-PGD, and was diagnosed with 45X/46XX karyotype...
October 2, 2017: Organogenesis
https://www.readbyqxmd.com/read/28926848/-parsonage-turner-syndrome-case-report
#17
Alexander Katzer, Wolf-Peter Niedermauntel, Jörg Rump
Neuralgic amyotrophy of the shoulder (Parsonage-Turner syndrome) is a rare condition of unknown aetiology which manifests as acute neuropathy of the brachial plexus. Diagnosis is based on typical symptoms and physical examination. In addition, magnetic resonance imaging of the affected shoulder and the cervical spine is advisable, in order to distinguish this syndrome from other conditions with similar symptoms. There is no specific treatment for neuralgic amyotrophy, but in about 50 - 67% of cases complete recovery occurs within two to three years, depending on the severity of the symptoms when they first appear...
September 19, 2017: Zeitschrift Für Orthopädie und Unfallchirurgie
https://www.readbyqxmd.com/read/28926833/circulating-igf-i-igfbp-3-and-the-igf-i-igfbp-3-molar-ratio-concentration-and-height-outcome-in-prepubertal-short-children-on-rhgh-treatment-over-two-years-of-therapy
#18
María Gabriela Ballerini, Débora Braslavsky, Paula Alejandra Scaglia, Ana Keselman, María Eugenia Rodríguez, Alicia Martínez, Analía Verónica Freire, Horacio Mario Domené, Héctor Guillermo Jasper, Ignacio Bergadá, María Gabriela Ropelato
OBJECTIVE: To investigate the occurrence of abnormally elevated values of biomarkers of growth hormone (GH) action in short children on recombinant human GH (rhGH) therapy. METHODS: Sixty-three prepubertal short children were examined: 31 with GH deficiency (GHD), 25 small for gestational age (SGA), and 9 with Turner syndrome (TS). The main outcomes were the following: standard deviation score (SDS) values of IGF-I, IGFBP-3, and IGF-I/IGFBP-3 molar ratio before, at the 1st and at the 2nd year on rhGH and Δheight (Ht)-SDS to evaluate GH treatment efficacy (adequate 1st-year ΔHt SDS: >0...
September 19, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28924290/a-case-report-of-acute-myelogenous-leukemia-with-turner-syndrome
#19
Nadir Siddiqui, Mirza Faris Ali Baig, Bilal Ahmed Khan
Turner Syndrome was diagnosed in a 45 years old female, known case of Acute Myeloid Leukaemia (AML) with maturation, on Bone Marrow biopsy. She presented with blurred vision, vertigo, exertional dyspnoea and insomnia. She did not show the typical features of Turner syndrome, but her cytogenetis confirmed the diagnosis. Bone marrow biopsy showed diffuse infiltration of blast cells with cellularity around 80-85% and haematopoietic suppression. Karyotype analysis showed: 45 X, -X, t (8; 21) (q22; q22) [According to The International System for Human Cytogenetic Nomenclature (ISCN)]...
September 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28904980/enterovirus-human-rhinovirus-a-rare-cause-of-acute-respiratory-distress-syndrome
#20
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
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