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Turner syndrom

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https://www.readbyqxmd.com/read/29245097/inverted-v-shaped-high-tibial-osteotomy-for-severe-tibia-vara-associated-with-turner-syndrome-a-case-report-and-review-of-literature
#1
Daisuke Abe, Satoshi Hamai, Ken Okazaki, Masato Yoshimoto, Takashi Komatsu, Yasuharu Nakashima
INTRODUCTION: Severe cases of genu varum represent a major challenge in obtaining normal configuration of the proximal tibia and overall limb alignment. PRESENTATION OF CASE: We performed inverted V-shaped high tibial osteotomy (HTO) by using a locking plate for recurrent severe bilateral tibia vara in a 15-year-old female patient with Turner syndrome. Preoperative medial proximal tibial angle (MPTA) and standing femorotibial angle (FTA) of the right/left legs were 67°/69° and 197°/203°, respectively...
December 8, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29243875/allometric-considerations-when-assessing-aortic-aneurysms-in-turner-syndrome-implications-for-activity-recommendations-and-medical-decision-making
#2
Holly Corbitt, Cheryl Maslen, Siddharth Prakash, Shaine A Morris, Michael Silberbach
In Turner syndrome, the potential to form thoracic aortic aneurysms requires routine patient monitoring. However, the short stature that typically occurs complicates the assessment of severity and risk because the relationship of body size to aortic dimensions is different in Turner syndrome compared to the general population. Three allometric formula have been proposed to adjust aortic dimensions, all employing body surface area: aortic size index, Turner syndrome-specific Z-scores, and Z-scores based on a general pediatric and young adult population...
December 15, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29241916/etiology-and-management-of-primary-amenorrhoea-a-study-of-102-cases-at-tertiary-centre
#3
Alka Kriplani, Manu Goyal, Garima Kachhawa, Reeta Mahey, Vidushi Kulshrestha
OBJECTIVE: To determine the prevalence of etiologic causes of primary amenorrhea in Indian population. MATERIALS AND METHODS: A retrospective study was performed using 102 complete medical records of women with primary amenorrhea who attended the Gynaecologic Endocrinology Clinic, Department of Obstetrics and Gynaecology, AIIMS, New Delhi from September 2012 to September 2015. Cases were analysed according to clinical profile, development of secondary sexual characteristics, physical examination, pelvic and rectal examination, X-ray of chest and lumbo-sacral spine, hormone profile, pelvic USG, MRI, and cytogenetic study including karyotype...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29233199/hypoplastic-left-heart-in-turner-s-syndrome-a-primary-indication-for-transplant
#4
Joseph Philip, Dipankar Gupta, Mark S Bleiweis, Biagio A Pietra, Himesh V Vyas
Survival for hypoplastic left heart syndrome patients following the Norwood procedure is 71-90%. Mortality in patients with Turner's syndrome and hypoplastic left heart syndrome after conventional palliation (Norwood operation) has been reported as high as 80%. This questions the approach of traditional staged palliation. Here, we report a patient with hypoplastic left heart syndrome and Turner's syndrome bridged to orthotopic heart transplantation following a hybrid procedure.
December 13, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/29220367/periodontitis-is-associated-with-significant-hepatic-fibrosis-in-patients-with-non-alcoholic-fatty-liver-disease
#5
William Alazawi, Eduardo Bernabe, David Tai, Tomasz Janicki, Polychronis Kemos, Salma Samsuddin, Wing-Kin Syn, David Gillam, Wendy Turner
BACKGROUND AND AIMS: Non-alcoholic fatty liver disease (NAFLD) has a bidirectional association with metabolic syndrome. It affects up to 30% of the general population, 70% of individuals with diabetes and 90% with obesity. The main histological hallmark of progressive NAFLD is fibrosis. There is a bidirectional epidemiological link between periodontitis and metabolic syndrome. NAFLD, periodontitis and diabetes share common risk factors, are characterised by inflammation and associated with changes in commensal bacteria...
2017: PloS One
https://www.readbyqxmd.com/read/29215649/a-craniosynostosis-massively-parallel-sequencing-panel-study-in-309-australian-and-new-zealand-patients-findings-and-recommendations
#6
Eric Lee, Trang Le, Ying Zhu, George Elakis, Anne Turner, William Lo, Hanka Venselaar, Carol-Ann Verrenkamp, Nicole Snow, David Mowat, Edwin Philip Kirk, Rani Sachdev, Janine Smith, Natasha Jane Brown, Mathew Wallis, Chris Barnett, Fiona McKenzie, Mary-Louise Freckmann, Felicity Collins, Maya Chopra, Nerine Gregersen, Ian Hayes, Sulekha Rajagopalan, Tiong Yang Tan, Zornitza Stark, Ravi Savarirayan, Alison Yeung, Lesley Adès, Michael Gattas, Kate Gibson, Michael Gabbett, David John Amor, Wanda Lattanzi, Simeon Boyd, Eric Haan, Mark Gianoutsos, Timothy Chilton Cox, Michael Francis Buckley, Tony Roscioli
PurposeThe craniosynostoses are characterized by premature fusion of one or more cranial sutures. The relative contribution of previously reported genes to craniosynostosis in large cohorts is unclear. Here we report on the use of a massively parallel sequencing panel in individuals with craniosynostosis without a prior molecular diagnosis.MethodsA 20-gene panel was designed based on the genes' association with craniosynostosis, and clinically validated through retrospective testing of an Australian and New Zealand cohort of 233 individuals with craniosynostosis in whom previous testing had not identified a causative variant within FGFR1-3 hot-spot regions or the TWIST1 gene...
December 7, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29211371/-primary-lymphedema
#7
Michèle Depairon, Claudia Lessert, Didier Tomson, Lucia Mazzolai
Characterized by an aplasia, hypoplasia or dysplasia of the lymphatic network, the primary lymphedema takes part of rare diseases. If 10 % of cases are congenital, the majority of them are detected before 35 years, most of the time due to an intercurrent event suh as a sprain or an infection. Although rarer, some primaries lymphedemas are family forms such the syndromes of Milroy and Meige. The primary lymphedema can also be a part of more complex malformative diseases such as Klinefelter, Turner or Noonan syndromes...
December 6, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/29206655/pathophysiology-clinical-presentation-and-treatment-of-coma-and-acute-kidney-injury-complicating-falciparum-malaria
#8
Katherine Plewes, Gareth D H Turner, Arjen M Dondorp
PURPOSE OF REVIEW: Cerebral impairment and acute kidney injury (AKI) are independent predictors of mortality in both adults and children with severe falciparum malaria. In this review, we present recent advances in understanding the pathophysiology, clinical features, and management of these complications of severe malaria, and discuss future areas of research. RECENT FINDINGS: Cerebral malaria and AKI are serious and well recognized complications of severe malaria...
December 4, 2017: Current Opinion in Infectious Diseases
https://www.readbyqxmd.com/read/29197878/a-rare-case-of-embryonal-carcinoma-in-a-patient-with-turner-syndrome-without-y-chromosomal-material-but-mutations-in-kit-akt1-and-znf358-demonstrated-using-exome-sequencing
#9
Claus H Gravholt, Ole L Dollerup, Lone Duval, Else Mejlgaard, Katrine Stribolt, Søren Vang, Britt E Laursen, Michael Knudsen, Kasper Thorsen, Remko Hersmus, Leendert H J Looijenga, Kirstine Stochholm
Gonadoblastoma and malignant transformations thereof can occur in females with Turner syndrome (TS) and Y chromosomal material. However, in females with TS and no Y chromosomal material, this is rarely seen. We report a female with an apparent 45,X karyotype (in blood and tumor) who was diagnosed with a metastatic embryonal carcinoma. Exome sequencing of blood and the tumor was done, and no Y chromosomal material was detected, while predicted deleterious mutations in KIT (likely driver), AKT1, and ZNF358 were identified in the tumor...
December 2, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/29196848/left-sided-congenital-heart-lesions-in-mosaic-turner-syndrome
#10
Nouha Bouayed Abdelmoula, Balkiss Abdelmoula, Walid Smaoui, Imen Trabelsi, Rim Louati, Samir Aloulou, Wafa Aloulou, Fatma Abid, Senda Kammoun, Khaled Trigui, Olfa Bedoui, Hichem Denguir, Souad Mallek, Mustapha Ben Aziza, Jamila Dammak, Oldez Kaabi, Nawel Abdellaoui, Fatma Turki, Asma Kaabi, Wafa Kamoun, Jihen Jabeur, Wided Ltaif, Kays Chaker, Haytham Fourati, Samir M'rabet, Hedi Ben Ameur, Naourez Gouia, Mohamed Nabil Mhiri, Tarek Rebai
In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age...
December 1, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29196357/an-approach-to-familial-lymphoedema
#11
Gabriela E Jones, Sahar Mansour
Lymphoedema is the build-up of lymphatic fluid leading to swelling in the tissues. Most commonly it affects the peripheries. Diagnosis is based on clinical assessment and imaging with lymphoscintigraphy. Treatment is supportive with compression garments, massage, good skin hygiene and prompt use of antibiotics to avoid the complication of cellulitis. Most commonly, lymphoedema occurs as a result of damage to the lymphatic system following surgery, trauma, radiation or infection. However, it can be primary, often associated with a genetic defect that causes disruption to the development of the lymphatic system...
December 2017: Clinical Medicine: Journal of the Royal College of Physicians of London
https://www.readbyqxmd.com/read/29191731/characteristic-morphologies-of-the-bicuspid-aortic-valve-in-patients-with-genetic-syndromes
#12
Talha Niaz, Joseph T Poterucha, Timothy M Olson, Jonathan N Johnson, Cecilia Craviari, Thomas Nienaber, Jared Palfreeman, Frank Cetta, Donald J Hagler
BACKGROUND: In patients with bicuspid aortic valve (BAV), complications including progressive aortic stenosis and aortic dilatation develop over time. The morphology of cusp fusion is one of the determinants of the type and severity of these complications. We present the association of morphology of cusp fusion in BAV patients with distinctive genetic syndromes. METHODS: The Mayo Clinic echocardiography database was retrospectively reviewed to identify patients (age ≤ 22 years) diagnosed with BAV from 1990 to 2016...
November 28, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/29187016/adolescent-female-with-turner-s-syndrome-and-46-x-der-y-del-y-p11-2-del-q11-2-karyotype-with-gonadoblastoma-and-dysgerminoma
#13
Barenya Mukerji, Eli Balshan, Robert Haderer, Wendy Shertz, Robert Graebe
Gonadal dysgenesis patients with Y chromosomal material are subject to increased risk for germ cell tumors. We report a case of an adolescent female presenting with Turner-like syndrome with primary amenorrhea and Tanner stage 1 breast development. Karyotype showed one X chromosome and a minute pericentromeric fragment of Y chromosome without any functional Y genes in all the cells, unlike a mosaic pattern, represented as 46,X,der(Y)del(Y)(p11.2)del(q11.2). Laparoscopic bilateral gonadectomy was performed due to presence of Y chromosome material and histopathology confirmed gonadoblastoma with a focus of dysgerminoma of the right ovary...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29177011/x-derived-marker-chromosome-in-patient-with-mosaic-turner-syndrome-and-dandy-walker-syndrome-a-case-report
#14
Alena S Telepova, Svetlana A Romanenko, Natalya A Lemskaya, Yulia V Maksimova, Asia R Shorina, Dmitry V Yudkin
Background: Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Case presentation: Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the centromeric region of chromosome X...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29176683/coronary-calcification-in-adults-with-turner-syndrome
#15
Marissa Schoepp, Fady Hannah-Shmouni, Jatin Matta, Ahmed M Ghanem, John A Hanover, Khaled Z Abd-Elmoniem, Ahmed M Gharib
PurposeAdults with Turner syndrome (TS) have an increased predisposition to ischemic heart disease. The quantitative relationship between coronary atherosclerosis and TS has yet to be established.MethodsA total of 128 females (62 with TS) participated in this prospective study. Coronary computed tomography angiography was performed to measure coronary calcified plaque burden, and prevalent noncalcified plaque burden. Regression analysis was used to study the effects of TS and traditional cardiovascular disease risk factors on coronary plaque burden...
October 2, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29171470/-shereshevsky-turner-syndrome-estrogen-replacement-therapy-and-cardiovascular-risk-factors
#16
O A Yevstigneeva, E N Andreeva, O R Grigoryan, N N Volevodz, G A Melnichenko, I I Dedov
AIM: To investigate the impact of menopausal hormone therapy (MHT) on the expression of risk factors for cardiovascular events (CVEs) in patients with Shereshevsky-Turner syndrome (STS); to elaborate an algorithm for patient management using MHT. SUBJECTS AND METHODS: From 2010 to 2012, a total of 41 patients aged 14 to 35 years with STS were examined in the framework of a prospective observational study. 100 STS case histories in 2000 to 2009 were retrospectively analyzed...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/29170104/unraveling-unusual-x-chromosome-patterns-during-fragile-x-syndrome-genetic-testing
#17
Gabriella Esposito, Maria Roberta Tremolaterra, Maria Savarese, Michele Spiniello, Maria Pia Patrizio, Barbara Lombardo, Lucio Pastore, Francesco Salvatore, Antonella Carsana
BACKGROUND: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID). Together with fragile X-associated tremor and ataxia (FXTAS) and fragile X-associated premature ovarian failure (POF)/primary ovarian insufficiency (POI), depends on dysfunctional expression of the FMR1 gene on Xq27.3. In most cases, FXS is caused by a >200 CGG repeats in FMR1 5'-untranslated region (UTR) and by promoter hypermethylation that results in gene silencing. Males and females with unmethylated premutated alleles (repeats between 55 and 200) are at risk for FXTAS and POF/POI...
November 20, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29163739/obsessive-compulsive-disorder-in-a-19-year-old-female-adolescent-with-turner-syndrome
#18
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
#19
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
#20
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
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