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Turners syndrome

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https://www.readbyqxmd.com/read/29163739/obsessive-compulsive-disorder-in-a-19-year-old-female-adolescent-with-turner-syndrome
#1
Surinder S Moonga, Aaron Pinkhasov, Deepan Singh
Obsessive-compulsive disorder (OCD) in patients with Turner syndrome (TS) is an uncommon neuropsychiatric presentation that has not been well characterized in the scientific literature. Though no clear psychiatric component is syndromic to TS, the clinical manifestations of certain neuropsychiatric disorders, including mood, anxiety and eating disorders, have all been well documented in patients with TS. However, the presence of OCD in these patients has not been previously described. This report details a 19-year-old TS patient who presented with OCD since the age of 13, comorbid with several other psychiatric pathologies, including bipolar I disorder, anorexia nervosa and attention deficit hyperactivity disorder (ADHD)...
December 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/29151316/frequencies-and-distributions-of-sex-chromosome-abnormalities-in-females-with-the-turner-phenotype-a-long-term-retrospective-study-in-the-southern-region-of-turkey
#2
Nilgün Tanrıverdi, Osman Demirhan, Dilara Süleymanova, Ayfer Pazarbaşı
Background/aim: The genetic background of Turner syndrome (TS) is highly variable. The correlation between genotype and phenotype is not yet well understood. The aim of this study was to describe the frequencies and distributions of Turner karyotypes and to discuss the phenotype/genotype relation in a very large group of individuals with TS. Materials and methods: The karyotype results of 248 female participants were evaluated retrospectively.Results: Of 248 females with the Turner phenotype, 14.5% had normal karyotypes and 85...
November 13, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/29149458/hormone-therapy-and-patients-satisfaction-with-treatment-in-a-large-cohort-of-diverse-disorders-of-sex-development-dsd
#3
Anna Nordenström, Robert Röhle, Ute Thyen, Claire Bouvattier, Jolanta Slowikowska-Hilczer, Nicole Reisch, Hedi Claahsen van der Grinten, Aude Brac de la Perriere, Peggy T Cohen-Kettenis, Birgit Köhler
OBJECTIVES: To describe and investigate the hormone treatments in individuals with different forms of disorders of sex development (DSD), and the patients own views on their treatment. DESIGN: Multicentre cross-sectional clinical evaluation, dsd-LIFE in six European countries from 02/2014 to 09/2015. PARTICIPANTS: 1040 adolescents and adults (≥16 years) with different DSD conditions. MAIN OUTCOMES MEASURES: Hormone replacement, information received and patient satisfaction...
November 17, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29147493/the-effect-of-the-ovarian-varicose-vein-on-the-dna-methylation-in-the-rat-s-oocyte
#4
Amirhossein Mohammadi, Bagher Minaei Zangi, Mahshid Delfan Azari, Rafieh Alizadeh, Mohammad Salehi, Erfan Daneshi, Mohammad Jafar Rezaei, Mehdi Abbasi
Objectives: We intended to determine whether the ovarian varicose which is one of the common etiologies of the pelvic congestion syndrome, has the ability to interfere with the DNA methylation reprogramming in the oocyte and thereby affect the oocyte quality or not. Materials and Methods: Varicose model was induced according to the Turner's method in the rats. Briefly, a 20-gauge needle was placed on the left renal vein and a thread was tied over both the needle and the renal vein medial to the insertion of the ovarian vein, and then the needle was removed...
October 2017: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/29144824/17%C3%AE-hydroxylase-deficiency-is-an-underdiagnosed-disease-high-frequency-of-misdiagnoses-in-a-large-cohort-of-brazilian-patients
#5
Rafaela Fontenele, Marivânia Costa-Santos, Claudio E Kater
OBJECTIVE: 17α-Hydroxylase deficiency (P450c17D) is characterized by hypogonadism and mineralocorticoid hypertension. We aimed to estimate the relative incidence and spectrum of preliminary misdiagnoses in Brazilian P450c17D patients. DESIGN: Cross-sectional study. METHODS: We reviewed, updated, and analyzed data of 40 P450c17D patients (21 XY, 19 XX). RESULTS: Complete data were unavailable for two patients. Seven patients were relatives of an index case...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29136134/asymptomatic-dissection-of-a-giant-aorta-ascendens-aneurysm-in-turner-syndrome
#6
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
#7
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/29126048/lennox-gastaut-syndrome-in-adulthood-long-term-clinical-follow-up-of-38-patients-and-analysis-of-their-recorded-seizures
#8
Aglaia Vignoli, Gaia Oggioni, Giovanni De Maria, Angela Peron, Miriam Nella Savini, Elena Zambrelli, Valentina Chiesa, Francesca La Briola, Katherine Turner, Maria Paola Canevini
Lennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy with childhood onset that usually continues through adolescence and into adulthood. In the long term, patients with this condition still have intractable seizures, intellectual disability, behavioral problems, and physical comorbidities. The aim of this study was to describe the clinical and EEG characteristics of a group of adults with Lennox-Gastaut syndrome. We identified 38 (22 females, 16 males) patients with LGS older than age 18years at their last evaluation, with mean age of 43...
November 7, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29125628/genomics-based-non-invasive-prenatal-testing-for-detection-of-fetal-chromosomal-aneuploidy-in-pregnant-women
#9
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/29097555/lupus-myelopathy
#10
Dominika D Raciborska, Alastair John Noyce, Dev Pyne, Benjamin P Turner
Although neurological manifestations of systemic lupus erythematosus (SLE) are well recognised, myelopathy complicating SLE is rare. A 35-year-old woman presented with non-specific symptoms and a respiratory tract infection but had serological evidence of SLE. She subsequently deteriorated rapidly, developing a catastrophic spinal cord syndrome. Her initial MRI was normal; but after 1 month, her encephalopathy having progressed, repeat imaging showed characteristic myelitic changes. She responded only slowly to a combination of cyclophosphamide and corticosteroids...
November 2, 2017: Practical Neurology
https://www.readbyqxmd.com/read/29090503/allergic-gastroenteritis-hospital-admission-time-trends-in-australia-and-new-zealand
#11
Raymond J Mullins, Paul J Turner, Elizabeth H Barnes, Dianne E Campbell
AIM: Recent epidemiological studies indicate increases in hospital food allergy-related anaphylaxis admission rates in Australian and New Zealand. The aim of the study was to examine whether non-IgE-mediated food allergy might have increased in parallel. METHODS: We analysed childhood hospital admissions rates by ICD 10 codes for allergic gastroenteritis (AG) and infective gastroenteritis in Australia and New Zealand between June 1998 and July 2014. RESULTS: In Australia, most AG-related admissions (73%) occurred in those aged <1 year and increased by 7...
October 31, 2017: Journal of Paediatrics and Child Health
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
#12
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
#13
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/29056426/mtorc1-couples-nucleotide-synthesis-to-nucleotide-demand-resulting-in-a-targetable-metabolic-vulnerability
#14
Alexander J Valvezan, Marc Turner, Amine Belaid, Hilaire C Lam, Spencer K Miller, Molly C McNamara, Christian Baglini, Benjamin E Housden, Norbert Perrimon, David J Kwiatkowski, John M Asara, Elizabeth P Henske, Brendan D Manning
The mechanistic target of rapamycin complex 1 (mTORC1) supports proliferation through parallel induction of key anabolic processes, including protein, lipid, and nucleotide synthesis. We hypothesized that these processes are coupled to maintain anabolic balance in cells with mTORC1 activation, a common event in human cancers. Loss of the tuberous sclerosis complex (TSC) tumor suppressors results in activation of mTORC1 and development of the tumor syndrome TSC. We find that pharmacological inhibitors of guanylate nucleotide synthesis have selective deleterious effects on TSC-deficient cells, including in mouse tumor models...
November 13, 2017: Cancer Cell
https://www.readbyqxmd.com/read/29054918/non-invasive-in-vivo-neuropathology-of-the-c9orf72-related-als-ftd-syndrome
#15
EDITORIAL
Martin R Turner
No abstract text is available yet for this article.
October 20, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29026275/a-case-of-45-x-47-xxx-mosaic-turner-syndrome-with-limb-length-discrepancy
#16
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
#17
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
#18
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/29018368/biclustered-independent-component-analysis-for-complex-biomarker-and-subtype-identification-from-structural-magnetic-resonance-images-in-schizophrenia
#19
Cota Navin Gupta, Eduardo Castro, Srinivas Rachkonda, Theo G M van Erp, Steven Potkin, Judith M Ford, Daniel Mathalon, Hyo Jong Lee, Bryon A Mueller, Douglas N Greve, Ole A Andreassen, Ingrid Agartz, Andrew R Mayer, Julia Stephen, Rex E Jung, Juan Bustillo, Vince D Calhoun, Jessica A Turner
Clinical and cognitive symptoms domain-based subtyping in schizophrenia (Sz) has been critiqued due to the lack of neurobiological correlates and heterogeneity in symptom scores. We, therefore, present a novel data-driven framework using biclustered independent component analysis to detect subtypes from the reliable and stable gray matter concentration (GMC) of patients with Sz. The developed methodology consists of the following steps: source-based morphometry (SBM) decomposition, selection and sorting of two component loadings, subtype component reconstruction using group information-guided ICA (GIG-ICA)...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28987660/partial-anomalous-pulmonary-venous-return-in-turner-syndrome
#20
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
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