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Turner's Syndrome 

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  1. Open Access 01-12-2024 | Turner's Syndrome | OriginalPaper

    The impact of amplification on quality of life in women with Turner syndrome

    Turner syndrome (TS, ORPHA 881) is a sex chromosome abnormality (SCA) that occurs in approximately 1 in 2000–2500 live female births because of a partial or total loss of the X-chromosome on some or all the body’s cells [ 1 ]. Resulting clinical …

  2. Open Access 01-12-2024 | Turner's Syndrome | OriginalPaper

    Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry

    Turner Syndrome (TS) is caused by the absence of all or part of one X chromosome leading to developmental problems such as short stature, ovarian dysfunction, and heart malformations [ 1 , 2 ]. Because TS involves multiple organ systems, it is …

  3. Open Access 20-02-2024 | Turner's Syndrome | Review

    Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project

    Multisystem involvement in Turner syndrome makes the transition from pediatric to adult care very challenging. Explore guidance on all aspects of transition and referral.

  4. 12-01-2024 | Turner's Syndrome | OriginalPaper

    Challenges in the management of Turner syndrome with Y chromosome material: a case report of prophylactic gonadectomy revealing dysgerminoma

    Turner syndrome (TS) patients with Y chromosome material face an increased risk of gonadal germ cell tumors (GCTs). This case report discusses the challenges in decision-making regarding prophylactic gonadectomy, considering the risk of malignancy …

  5. Open Access 27-11-2023 | Turner's Syndrome | OriginalPaper

    Working towards risk stratification for ascending aortic dilatation in pediatric Turner syndrome patients: results of a longitudinal echocardiographical observation

    This study aimed to longitudinally evaluate aortic root dimensions and elasticity in pediatric Turner syndrome (TS) in relation to known cardiac implications such as coarctation of the aorta (CoA) and bicuspid aortic valves (BAV) in order to …

  6. 28-12-2023 | Turner's Syndrome | ReviewPaper

    Postoperative Morbidity and Interstage Hemodynamics Following Stage I Palliation in Patients with Turner Syndrome and Hypoplastic Left Heart Syndrome

    Turner syndrome (TS) is a common genetic condition characterized by complete or partial absence of an X chromosome resulting in complete or mosaic monosomy X (45XO) karyotype. TS is associated with congenital heart disease most commonly resulting …

  7. Open Access 26-07-2023 | Neuralgic Shoulder Amyotrophy | Case Study

    Increased 18 F-FDG uptake in denervated muscles in a case of Parsonage-Turner syndrome

    18 F-FDG PET-CT may help in early detection of muscle denervation in Parsonage–Turner syndrome, which is characterized by sudden onset of shoulder girdle pain followed by upper limb weakness.

  8. Open Access 18-11-2023 | Turner's Syndrome | Case Study

    Hemophilia A and factor V deficiency in a girl with Turner syndrome: a case report

    Hemophilia is rare in females and karyotyping is advised. In this case, a 5-year-old girl who presented with hemorrhage of the gum, epistaxis, and short stature was diagnosed with Turner syndrome, hemophilia A, and factor V deficiency.

  9. Open Access 01-12-2023 | Turner's Syndrome | OriginalPaper

    The quality of life and body image disturbances of Turner syndrome patients in Malaysia: a cross-sectional study

    Turner syndrome (TS) is a sex chromosome abnormality, which results from partial or complete loss of one of two X chromosomes affecting approximately one out of every 2500 female live births [ 1 ]. The affected females have a genetic profile of …

  10. Open Access 01-12-2023 | Turner's Syndrome | OriginalPaper

    A West Nile Virus infection expressed as unilateral limb paralysis and complicated by Parsonage–Turner syndrome: a case report

    West Nile virus is a single-stranded Ribonucleic Acid (RNA) arbovirus of the Flaviviridae family, transmitted to humans by Culex species mosquitoes [ 1 ]. The incubation period is 2–14 days, after which 80% of affected people do not develop any …

  11. 08-02-2023 | Neurotomy | OriginalPaper

    Parsonage-Turner syndrome following monkeypox infection and vaccination

    Beginning in May 2022, monkeypox infection and vaccination rates dramatically increased due to a worldwide outbreak. This case highlights magnetic resonance (MR) neurography findings in an individual who developed Parsonage-Turner syndrome (PTS) 5 …

  12. 01-12-2022 | Turner's Syndrome | Case Study

    COVID-19 atypical Parsonage-Turner syndrome: a case report

    The coronavirus disease 2019 (COVID-19) pandemic, caused by the severe acute respiratory syndrome coronavirus 2 (Sars-CoV-2), has crucially affected the life of everyone worldwide and significantly changed the course of history. Whereas typical …

  13. Open Access 11-08-2023 | Turner's Syndrome | OriginalPaper

    Clinical pregnancy in Turner syndrome following re-implantation of cryopreserved ovarian cortex

    Turner syndrome (TS) leads to a characteristic phenotype, including premature ovarian insufficiency and infertility. Ovarian tissue cryopreservation (OTC) is becoming an established fertility preservation strategy for both pre- and post-pubertal …

  14. Open Access 01-12-2022 | Turner's Syndrome | OriginalPaper

    New insights into the comorbid conditions of Turner syndrome: results from a long-term monocentric cohort study

    Research on Turner syndrome (TS) continues to reveal new facts and insights [ 1 ]; however, many questions remain unresolved, such as the long-term complications and, therefore, the optimal care setting for adults. Further questions involve the …

  15. 25-06-2022 | MR Angiography | OriginalPaper

    Aortic tortuosity in Turner syndrome is associated with larger ascending aorta

    Turner syndrome (TS) is associated with aortic coarctation, dissection and dilation/aneurysm. Predictors of dissection are not well delineated, making decisions regarding prophylactic root replacement challenging. In other disorders, arterial …

  16. Open Access 01-12-2022 | Angiography | OriginalPaper

    Moyamoya associated with Turner syndrome in a patient with type 2 spinocerebellar ataxia—Occam’s razor or Hickam’s dictum: a case report

    Turner syndrome (TS) is a rare condition associated with a completely or partially missing X chromosome that affects 1 in 2500 girls. It is characterized by hypergonadotropic hypogonadism, infertility, short stature, endocrine and metabolic …

  17. Open Access 01-06-2022 | Turner's Syndrome | OriginalPaper

    Role of Wnt-signaling inhibitors DKK-1 and sclerostin in bone fragility associated with Turner syndrome

    Turner syndrome (TS) is a chromosomal disorder resulting from total or partial loss of one of the X chromosomes in phenotypically female patients. Clinical features depend on the karyotype, and usually include short stature, hypergonadotropic …

  18. 01-09-2021 | Hypertensive Emergency

    Hypertensive Emergency with Medullary and Spinal Hemorrhage in Turner Syndrome

  19. Open Access 01-12-2021 | Turner's Syndrome | OriginalPaper

    Recombinant growth hormone therapy in children with Turner Syndrome in Korea: a phase III Randomized Trial

    Turner syndrome (TS) is related to a defect in all or part of one X-chromosome that is missing or structurally altered. It occurs in one of 2500–3000 live-born females [ 1 ]. TS is characterized by short stature, dysmorphic features, loss of …

  20. Open Access 01-12-2021 | Turner's Syndrome | OriginalPaper

    The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report

    Turner syndrome (TS) is a genetic disorder in females that is the result of complete or partial loss of an X chromosome during fertilization. It occurs in approximately one in 2500 female live births. The missing X chromosome is originally either …

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