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Comprehensive Genetic Testing for Coexisting Marfan and Loeys-Dietz Syndromes in Hereditary Thoracic Aortic Disease.
JACC Case Rep
December 2024
Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
Hereditary thoracic aortic disease (HTAD) is a rare heritable condition with several subtypes, including Marfan syndrome (MFS), vascular Ehlers-Danlos syndrome, and Loeys-Dietz syndrome (LDS). Although MFS is the most common type of HTAD caused by mutations in , differentiation from other conditions such as LDS is crucial due to the varying clinical courses. We report the case of a family history of early-onset ascending aortic dissection initially diagnosed as MFS based on a pathogenic variant of .
View Article and Find Full Text PDFCoexistence of Vascular Ehlers-Danlos Syndrome and Sticky Platelet Syndrome: A Lethal Combination in A Young Patient with Thrombophilia and Haemorrhagic Diathesis.
Eur J Case Rep Intern Med
November 2024
Department of Internal Medicine, Hospital Universitario Virgen del Rocío, Seville, Spain.
Background: The coexistence of hypercoagulability and bleeding diathesis in the same patient represents a potentially lethal combination due to its complex management. Vascular Ehlers-Danlos syndrome (vEDS) and sticky platelet syndrome (SPS) are classified as rare diseases due to their low prevalence. vEDS is associated with bleeding tendencies caused by vascular wall fragility, while SPS is characterized by atypical arterial and venous thrombosis.
View Article and Find Full Text PDFOutcomes of open reduction for hip dislocations in children with connective tissue disorders.
J Child Orthop
December 2024
Department of Orthopaedics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Purpose: While children with hypermobility and/or ligamentous laxity due to coexisting connective tissue disorders might be expected to have worse outcomes after open reduction for hip dislocations, there is minimal prior research on this topic.
Methods: All open reduction surgeries for hip dislocations performed at a single urban, tertiary-care children's hospital from 2009 to 2023 were reviewed retrospectively. Those with connective tissue disorders secondary to a diagnosed syndrome or genetic disorder were included.
Coexisting Sacroiliac Arthritis and Chronic Nonbacterial Osteomyelitis in an Adolescent with Ehlers-Danlos Syndrome: A Case Report and Treatment Success.
Am J Case Rep
September 2024
Department of Pediatrics, Faculty of Medicine and Health Sciences, Andrzej Frycz Modrzewski Cracow University, Cracow, Poland.
Article Synopsis
- Chronic nonbacterial osteomyelitis (CNO) is an autoinflammatory bone disease primarily found in children and adolescents, and sacroiliitis is an inflammatory condition of the sacroiliac joint diagnosed via MRI.
- A case study details a 17.5-year-old female patient with classical Ehlers-Danlos syndrome (EDS) who experienced joint pain, hypermobility, and morning stiffness, leading to the diagnosis of CNO and sacroiliitis after a whole-body MRI revealed inflammation.
- The patient was successfully treated with a combination of medications including risedronate sodium and methotrexate, achieving remission, highlighting the importance of interdisciplinary cooperation for managing the overlapping conditions.
Anaplastic and poorly differentiated thyroid carcinomas: genetic evidence of high-grade transformation from differentiated thyroid carcinoma.
J Pathol Clin Res
March 2024
Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao, PR China.
Anaplastic thyroid carcinoma (ATC) is the most advanced and aggressive thyroid cancer, and poorly differentiated thyroid carcinoma (PDTC) lacks anaplastic histology but has lost architectural and cytologic differentiation. Only a few studies have focused on the genetic relationship between the two advanced carcinomas and coexisting differentiated thyroid carcinomas (DTCs). In the present study, we investigated clinicopathologic features and genetic profiles in 57 ATC and PDTC samples, among which 33 cases had concomitant DTC components or DTC history.
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