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Page 1
Clinical features and complications of Loeys-Dietz syndrome: A systematic review.
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R. Gouda P, et al. Int J Cardiol. 2022 Sep 1;362:158-167. doi: 10.1016/j.ijcard.2022.05.065. Epub 2022 Jun 1. Int J Cardiol. 2022. PMID: 35662564 Free article. Review.
INTRODUCTION: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that arises from mutations altering the transforming growth factor beta signalling pathway. ...METHODS: Our search included five databases (Pubmed, SCOPUS, Web of Science, EMBASE and goo …
INTRODUCTION: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that arises from mutations altering the transf …
The Genetics of Pneumothorax.
Boone PM, Scott RM, Marciniak SJ, Henske EP, Raby BA. Boone PM, et al. Am J Respir Crit Care Med. 2019 Jun 1;199(11):1344-1357. doi: 10.1164/rccm.201807-1212CI. Am J Respir Crit Care Med. 2019. PMID: 30681372 Free PMC article. Review.
We summarize the pneumothorax-associated genetic syndromes, including Birt-Hogg-Dube syndrome, Marfan syndrome, vascular (type IV) Ehlers-Danlos syndrome, alpha-1 antitrypsin deficiency, tuberous sclerosis complex/lymphangioleiomyomatosis, Loeys-Die …
We summarize the pneumothorax-associated genetic syndromes, including Birt-Hogg-Dube syndrome, Marfan syndrome, vascular (type …
Thoracic Aortic Aneurysm: A Clinical Review.
Senser EM, Misra S, Henkin S. Senser EM, et al. Cardiol Clin. 2021 Nov;39(4):505-515. doi: 10.1016/j.ccl.2021.06.003. Cardiol Clin. 2021. PMID: 34686263 Review.
The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management.
Pollock L, Ridout A, Teh J, Nnadi C, Stavroulias D, Pitcher A, Blair E, Wordsworth P, Vincent TL. Pollock L, et al. Curr Rheumatol Rep. 2021 Nov 26;23(11):81. doi: 10.1007/s11926-021-01045-3. Curr Rheumatol Rep. 2021. PMID: 34825999 Free PMC article. Review.
Mayo Clin Proc. 89(1):34-42, 146, Dietz 3, Loeys et al. J Med Genet. 47(7):476-85, 4). RECENT FINDINGS: The vascular complications of MFS still pose the greatest threat, but effective management options, such as regular cardiac monitoring and elective surgica …
Mayo Clin Proc. 89(1):34-42, 146, Dietz 3, Loeys et al. J Med Genet. 47(7):476-85, 4). RECENT FINDINGS: The vascular co …
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G. Piché J, et al. Cell Cycle. 2019 Nov;18(21):2828-2848. doi: 10.1080/15384101.2019.1658476. Epub 2019 Sep 13. Cell Cycle. 2019. PMID: 31516082 Free PMC article. Review.
We suggest that the human phenotypes observed in CdLS, CAID syndrome and other cohesinopathies can inform future studies into the less well-known non-cohesion-related functions of cohesin complex genes. Abbreviations: AD: Alzheimer Disease; AFF4: AF4/FMR2 Family Member …
We suggest that the human phenotypes observed in CdLS, CAID syndrome and other cohesinopathies can inform future studies into the les …
Thoracic Aortic Aneurysm and Dissection: Review and Recommendations for Evaluation.
Krywanczyk A, Rodriguez ER, Tan CD, Gilson T. Krywanczyk A, et al. Am J Forensic Med Pathol. 2023 Jun 1;44(2):69-76. doi: 10.1097/PAF.0000000000000819. Epub 2023 Mar 3. Am J Forensic Med Pathol. 2023. PMID: 36877084 Review.
Forensic pathologists need broad knowledge of the spectrum of H-TAAD and awareness of the relative significance of hypertension, pregnancy, substance use, and microscopic changes of aortic architecture.This article reviews the common subtypes of H-TAAD, including Marfan syndro …
Forensic pathologists need broad knowledge of the spectrum of H-TAAD and awareness of the relative significance of hypertension, pregnancy, …
Aorta pathology and pregnancy.
van Hagen IM, Roos-Hesselink JW. van Hagen IM, et al. Best Pract Res Clin Obstet Gynaecol. 2014 May;28(4):537-50. doi: 10.1016/j.bpobgyn.2014.03.007. Epub 2014 Mar 27. Best Pract Res Clin Obstet Gynaecol. 2014. PMID: 24726851 Review.
In addition to the haemodynamic changes in pregnancy, hormones also induce changes in the aortic wall. Women with diseases like Marfan syndrome, Ehlers-Danlo syndrome, or other aortic abnormalities, have an increased risk of complications during pregnancy. ...
In addition to the haemodynamic changes in pregnancy, hormones also induce changes in the aortic wall. Women with diseases like Marfan sy …
Bone Fragility in Hereditary Connective Tissue Disorders: A Systematic Review and Meta-Analysis.
Charoenngam N, Rittiphairoj T, Ponvilawan B, Jaroenlapnopparat A, Waitayangkoon P, Suppakitjanusant P, Prasitsumrit V, Pongchaiyakul C, Holick MF. Charoenngam N, et al. Endocr Pract. 2023 Jul;29(7):589-600. doi: 10.1016/j.eprac.2023.02.003. Epub 2023 Feb 17. Endocr Pract. 2023. PMID: 36804968 Review.
OBJECTIVE: To investigate bone fragility in patients with hereditary connective tissue disorders (HCTD), including Ehlers-Danlos syndrome (EDS), Marfan's syndrome (MFS) and Loeys-Dietz syndrome (LDS). ...The pooled prevalence of osteoporosis in …
OBJECTIVE: To investigate bone fragility in patients with hereditary connective tissue disorders (HCTD), including Ehlers-Danlos syndrome …
Thoracic and Thoracoabdominal Aneurysms: Etiology, Epidemiology, and Natural History.
Downey RT, Aron RA. Downey RT, et al. Anesthesiol Clin. 2022 Dec;40(4):671-683. doi: 10.1016/j.anclin.2022.08.011. Epub 2022 Oct 8. Anesthesiol Clin. 2022. PMID: 36328622 Review.
Younger patients without significant cardiovascular risk factors may have a genetic basis and include syndromes such as Marfan, Ehlers-Danlos, and Loeys-Dietz and bicuspid aortic valve. Most thoracic aneurysms grow slowly over time and factors that accelerate growth …
Younger patients without significant cardiovascular risk factors may have a genetic basis and include syndromes such as Marfan, Ehlers-Danlo …
Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients' experiences and perceptions.
Velvin G, Johansen H, Østertun-Geirdal A, Bathen T. Velvin G, et al. Orphanet J Rare Dis. 2023 May 19;18(1):119. doi: 10.1186/s13023-023-02709-2. Orphanet J Rare Dis. 2023. PMID: 37208760 Free PMC article. Review.
INTRODUCTION: The purpose of this study was to explore the literature on fatigue in patients with syndromic heritable thoracic aortic disease (sHTAD), including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), vascular Ehlers Danlos syndrome ( …
INTRODUCTION: The purpose of this study was to explore the literature on fatigue in patients with syndromic heritable thoracic aortic diseas …
19 results