Journal articles: 'Marfaing'

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Marfaing, Laurence, and Boubacar Barry. "Anta Diop, Dakar: Mobilité des nomades et des sédentaires dans l'espace CEDEAO." Regions and Cohesion 3, no. 3 (December 1, 2013): 155–66. http://dx.doi.org/10.3167/reco.2013.030310.

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Cet entretien avec Boubacar Barry, historien et professeur d'histoire à l'Université Cheikh Anta Diop de Dakar, est en quelque sorte le prolongement d'un échange qui a eu lieu lors d'un colloque sur la mobilité dans l'espace Sahara-Sahel qui s'est tenu en 2011 à Bamako. Depuis ses premières publications dans les années 1970, Boubacar Barry défend l'idée d'une grande Sénégambie des peuples et n'a cessé de travailler sur l'intégration régionale en Afrique de l'Ouest pendant toute sa carrière de chercheur. Son savoir et ses convictions, qui ont inspiré tout le colloque et surtout le panel sur l'intégration régionale dont il fut le président, se retrouvent dans l'interview que Laurence Marfaing a réalisée avec lui quelques mois plus tard et que nous publions ici.

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Kohnert, Dirk. "Karsten Giese et Laurence Marfaing (éds). Entrepreneurs africains et chinois. Les impacts sociaux d’une rencontre particulière." Anthropologie & développement, no. 45 (May 1, 2017): 149–52. http://dx.doi.org/10.4000/anthropodev.555.

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GRÄTZ, TILO. "Les nouveaux urbains dans l’espace Sahara-Sahel. Un cosmopolitisme par le bas edited by Boesen, Elisabeth and Laurence Marfaing." Social Anthropology 17, no. 4 (October 23, 2009): 488–89. http://dx.doi.org/10.1111/j.1469-8676.2009.00088_4.x.

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Hanson, John H. "French Commerce in Senegal - L'Evolution du commerce au Sénégal, 1820–1930. By Laurence Marfaing. Paris: L'Harmattan, 1991. Pp. 313. No price given." Journal of African History 34, no. 2 (July 1993): 327–28. http://dx.doi.org/10.1017/s0021853700033430.

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Sirvydis, Vytautas, Saulius Raugelė, Arimantas Grebelis, Gintaras Turkevičius, Rimantas Karalius, Rasa Čypienė, and Palmyra Semėnienė. "Pirmosios aortos vožtuvą išsaugančios operacijos šalinant kylančios aortos aneurizmas Vilniaus universiteto Širdies chirurgijos centre." Lietuvos chirurgija 5, no. 4 (January 1, 2007): 0. http://dx.doi.org/10.15388/lietchirur.2007.4.2179.

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Vytautas Sirvydis1, Saulius Raugelė1, Arimantas Grebelis1, Gintaras Turkevičius2, Rimantas Karalius1, Rasa Čypienė1, Palmyra Semėnienė11 Vilniaus universiteto Širdies chirurgijos centras2 Vilniaus universiteto ligoninės Santariškių klinikų Širdies chirurgijos centras,Santariškių g. 2, LT-08661 VilniusEl paštas: sauliusr@email.lt Įvadas / tikslas Šiuolaikinė kardiochirurgija leidžia radikaliai chirurgiškai gydyti Marfano sindromu sergančius ligonius, kuriems diagnozuojama kylančios aortos aneurizma. Vienas iš pirmųjų metodų buvo sukurtas ir aprašytas Benthallio ir DeBono 1968 m., o 1992 m. Davidas aprašė operaciją, kurios metu išsaugomas natūralus aortos vožtuvas. Vėliau ši technika tobulinta, sukurta dar keletas panašių būdų. Nors ši metodika, atrodytų, leidžia išspręsti keletą problemų, tokių kaip antikoaguliantų vartojimas, tačiau diskusijų tebekelia jos naudojimas esant Marfano sindromui, kai aneurizma yra didesnė nei 50–55 mm. Supažindiname su pirmosiomis sėkmingomis aortos vožtuvą išsaugančiomis operacijomis šalinant kylančios aortos aneurizmas. Ligoniai ir metodai 2003–2006 m. Vilniaus universiteto ligoninės Santariškių klinikų Širdies chirurgijos centre atliktos keturios izoliuotos Davido I tipo operacijos Marfano sindromu sergantiems ligoniams, turintiems kylančios aortos lėtinę aneurizmą. Operuota dvi moterys ir du vyrai, amžiaus vidurkis 32,5 ± 5,7 m., visi buvo NYHA II funkcinės klasės. Retrospektyviai surinkti širdies echoskopijos duomenys iki ir po operacijos. Rezultatai Ritmo sutrikimų ar kitų grėsmingesnių komplikacijų, mirčių nebuvo. Aortos matmenys tiek ties sinotubuline jungtimi, tiek kylančios dalies skyrėsi statistiškai reikšmingai ir smarkiai, aortos vožtuvo nesandarumo nebuvo arba buvo menkas. Išvados Marfano sindromu sergantiems ligoniams, turintiems lėtinę kylančios aortos aneurizmą, aortos vožtuvą išsaugančios operacijos yra užtektinai saugus gydymo metodas. Literatūros ir mūsų duomenimis, šio tipo operacijos gali būti atliktos, kol aneurizmos dydis yra 50–55 mm ir nėra reikšmingo aortos vožtuvo nesandarumo. Pagrindiniai žodžiai: Marfano sindromas, aortos aneurizma, Davido operacija First experience of aortic valve sparing procedures in patients with aneurysm of ascending aorta at Vilnius University Hospital Santariškių Klinikos Heart Surgery Center Vytautas Sirvydis1, Saulius Raugelė1, Arimantas Grebelis1, Gintaras Turkevičius2, Rimantas Karalius1, Rasa Čypienė1, Palmyra Semėnienė11 Heart Surgery Center of Vilnius University2 Vilnius University Hospital Santariškių Klinikos Heart Surgery Center,Santariškių str. 2, LT-08661 Vilnius, LithuaniaE-mail: sauliusr@email.lt Background / objectives The methods of modern cardiac surgery allow to perform a thoroughgoing treatment of ascending aorta aneurysm. Benthall and DeBono in 1968 were the first to describe the basic surgical technique; in 1992 David reported a novel surgical procedure aimed to spare the native aortic valve. The latter technique is superior because of permanent anticoagulation therapy exclusion, but also it is controversial in cases when ascending aorta aneurysm exceeds 55 mm, especially in patients with Marfan syndrome. We would like to introduce our first experience in treating ascending aorta aneurysm and sparing the aortic valve in patients with Marfan syndrome. Patients and methods There were 4 successful cases of David I procedure during 1996–2006 at Vilnius University Hospital Santariškių Klinikos Heart Surgery Center. The patients were 2 male and 2 female, mean age 32.5 ± 5.7 years; all were of NYHA II functional class. Data were collected retrospectively from case histories. Results There were no deaths of any rhythm disturbances after surgery. The parameters of the ascending aorta and aortic root were significantly different as compared with preoperative data. Also, after surgery there were no aortic insufficiency or it was trivial. Conclusions The aortic valve sparing procedure in patients with Marfan syndrome and ascending aorta aneurysm appears to be a safe method of treatment. According to the literature and our data, these operations are safe and effective when the aneurysm does exceed 55 mm and there is no aortic valve insufficiency. Key words: aortic aneurysm, Marfan syndrome, David procedure

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AUSTEN, RALPH. "Afrikanische Beziehungen, Netzwerke und Räume: African Networks, Exchange and Spatial Dynamics: Dynamiques spatiales, réseaux et échanges africains. Edited by LAURENCE MARFAING and BRIGITTE REINWALD. Münster: Lit Verlag, 2001. Pp. 458. €40.90 (ISBN 3-8258-5705-0)." Journal of African History 46, no. 1 (March 2005): 188. http://dx.doi.org/10.1017/s0021853705470346.

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Savičius, Donatas. "MARFANO SINDROMAS: KLINIKINIS PASIREIŠKIMAS, DIAGNOSTIKA IR GYDYMAS." Health Sciences 31, no. 3 (May 24, 2021): 186–87. http://dx.doi.org/10.35988/sm-hs.2021.106.

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Marfano sindromas – viena dažniausių paveldimų jungiamojo audinio ligų. Marfano sindromą sukelia FBN1(fibrilino 1) geno mutacijos, liga paveldima autosominiu dominantiniu keliu. Marfano sindromas kliniškai dažniausiai pasireiškia akių, širdies ir kraujagyslių, raumenų ir skeleto sistemų pažeidimais, tačiau gali būti paveikti plaučiai, oda ir nugaros smegenys. Ilgalaikio stebėjimo ir gydymo tikslas – komplikacijų, susijusių su Marfano sindromu, ankstyva diagnostika, prevencija ir gydymas. Šio tyrimo tikslas – išanalizuoti bei aptarti įrodymais pagrįstą informaciją apie Marfano sindromo klinikinį pasireiškimą, diagnostiką bei gydymą.

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Salchow, Daniel J., and Petra Gehle. "Ocular manifestations of Marfan syndrome in children and adolescents." European Journal of Ophthalmology 29, no. 1 (March 27, 2018): 38–43. http://dx.doi.org/10.1177/1120672118761333.

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Purpose: To study ocular manifestations of Marfan syndrome in children and adolescents. Methods: Retrospective comparative cohort study on consecutive patients up to age 17 years, presenting to the interdisciplinary Marfan clinic of Charité-University Medicine Berlin over a period of 4 years. Results: A total of 52 Marfan syndrome patients and 73 controls were enrolled. In Marfan syndrome eyes, the cornea was flatter (mean keratometry, 40.86 ± 2.13 vs 42.55 ± 1.55 diopters in control eyes, p < .001) and corneal astigmatism was greater (1.50 ± 1.22 vs 0.88 ± 0.49 diopters in control eyes, p < .001). The central cornea was thinner in Marfan syndrome eyes (537.35 ± 40.64 vs 552.95 ± 38.57 μm, p = 0.007) and Marfan syndrome eyes were more myopic than control eyes (spherical equivalent, –2.77 ± 4.77 vs −0.64 ± 1.92 diopters, p < .001). Visual acuity was reduced (logMAR 0.11 ± 0.17 vs 0.04 ± 0.26, p = 0.014) and intraocular pressure was lower in Marfan syndrome eyes. Iris transillumination defects were more common in Marfan syndrome eyes (19.6% vs 4.3% in control eyes, odds ratio for Marfan syndrome in the presence of iris transillumination defects = 7.2). Ectopia lentis was only found in Marfan syndrome eyes (25 Marfan syndrome patients, 49% with available data, bilateral in 68%). Conclusion: Iris transillumination defects and ectopia lentis are characteristic ocular findings in children and adolescents with Marfan syndrome. Myopia is more common and corneal curvature, central corneal thickness, and visual acuity are reduced in Marfan syndrome eyes. Children with Marfan syndrome need regular comprehensive eye examinations to identify potential complications.

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Warnink-Kavelaars, Jessica, Anita Beelen, Tine M. H. J. Goedhart, Lisanne E. de Koning, Frans Nollet, Mattijs W. Alsem, Leonie A. Menke, and Raoul H. H. Engelbert. "Marfan syndrome in adolescence: adolescents’ perspectives on (physical) functioning, disability, contextual factors and support needs." European Journal of Pediatrics 178, no. 12 (October 16, 2019): 1883–92. http://dx.doi.org/10.1007/s00431-019-03469-7.

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Abstract Although essential for providing optimal adolescent patient support, knowledge of the impact of Marfan syndrome in adolescence is limited. To explore adolescents’ perceived impact of Marfan syndrome on (physical) functioning (activities, participation), disability (limitations, restrictions), contextual factors and support needs, we interviewed 19 adolescents with Marfan syndrome. Audio-recordings were transcribed, coded and analysed using thematic analysis. Identified themes were “difficulties in keeping up with peers” and “being and feeling different from peers”. Furthermore, an adolescent Marfan syndrome-specific International Classification of Functioning, Disability and Health for Children and Youth (ICF-CY) model derived from the data describing the adolescent perceived impact of Marfan syndrome on functioning, disability and its contextual factors. Adolescents perceived problems in keeping up with peers in school, sports, leisure and friendships/relationships, and they could not meet work requirements. Moreover, participants perceived to differ from peers due to their appearance and disability. Contextual factors: coping with Marfan syndrome, self-esteem/image, knowledge about Marfan syndrome, support from family/friends/teachers, ability to express needs and peer-group acceptation acted individually as barrier or facilitator for identified themes. Conclusion: Adolescents with Marfan syndrome perceived limitations and restrictions in (physical) functioning. They perceived problems in keeping up with peers and perceived to differ from peers due to their appearance and disability. This warrants awareness and tailored physical, psychosocial, educational and environmental support programmes to improve (physical) functioning and empowerment of adolescents with Marfan syndrome.What is known:• Marfan syndrome is a hereditary connective tissue disorder.• Marfan syndrome affects multiple systems.What is new:• Adolescents with Marfan syndrome perceive (1) problems in keeping up with peers in school, sports, leisure, friendships/relationships and work (2) to differ from peers due to their appearance and disability.• An adolescent Marfan syndrome-specific International Classification of Functioning, Disability and Health for Children and Youth model derived from the data describing the adolescent perceived impact of Marfan syndrome on functioning, disability and contextual factors.

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Jayarajan, Senthil N., Brandon D. Downing, Luis A. Sanchez, and Jeffrey Jim. "Trends of vascular surgery procedures in Marfan syndrome and Ehlers-Danlos syndrome." Vascular 28, no. 6 (May 19, 2020): 834–41. http://dx.doi.org/10.1177/1708538120925597.

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Objectives Marfan syndrome and Ehlers-Danlos syndrome represent two connective tissue vascular diseases requiring unique consideration in their vascular surgical care. A comprehensive national review encompassing all hospitalizations for the Marfan Syndrome and Ehlers-Danlos syndrome patient population is lacking. Methods The National (Nationwide) Inpatient Sample from 2010 to 2014 was reviewed for all inpatient vascular surgery procedures including those with a diagnosis of Marfan syndrome and Ehlers-Danlos syndrome. National estimates of vascular surgery rates were generated from provided weights. Patient demographics, procedure type, and outcomes were assessed. Results There were 3103 Marfan syndrome and 476 Ehlers-Danlos syndrome vascular procedures identified as well as 3,895,381 vascular procedures in the remainder of population (control group). The percent of aortic procedures from all vascular procedures in Marfan syndrome (23.5%) and Ehlers-Danlos syndrome (23.5%) were 2.5-fold higher than controls (9.1%), p < 0.0001. Open aortic aneurysm repair was also significantly greater in both Marfan syndrome (16.8%) and Ehlers-Danlos syndrome (11.2%) compared to controls (4.4%), p < 0.0001. Endovascular aortic repair ( p < 0.2302) was similar among the groups. Marfan syndrome (7.7%) and Ehlers-Danlos syndrome (5.1%) had more thoracic endovascular aortic repair performed than controls (0.7%), p < 0.0001. Percutaneous procedures were fewer in Marfan syndrome (6.3%) than controls (31.3%) and Ehlers-Danlos syndrome (26.3%), p < 0.0001, while repair of peripheral arteries was greater in Marfan syndrome (5.9%) and Ehlers-Danlos syndrome (4.1%) than controls (1.5%), p < 0.0001. For total aortic procedures, the mean age of aortic procedures was 68.2 years in controls vs 45.8 years in Marfan syndrome and 55.3 years in Ehlers-Danlos syndrome, p < 0.0001. Marfan syndrome and Ehlers-Danlos syndrome had fewer comorbidities overall, while controls had significantly higher rates of coronary artery disease (controls 39.9% vs Marfan syndrome 8.3% and Ehlers-Danlos syndrome 13.0%, p < 0.0001), peripheral vascular disease (controls 34.5% vs Marfan syndrome 4.2% and Ehlers-Danlos syndrome 8.7%, p < 0.0001), and diabetes (controls 20.6% vs Marfan syndrome 6.6 and Ehlers-Danlos syndrome 4.4%, p < 0.0001). Marfan syndrome and Ehlers-Danlos syndrome had higher overall complication rate (65.5% and 52.2%) compared to controls (44.6%), p < 0.0001. Postoperative hemorrhage was more likely in Marfan syndrome (42.9%) and Ehlers-Danlos syndrome (39.1%) than controls (22.2%), p < 0.0001. Increased respiratory failure was noted in Marfan syndrome (20.2%) vs controls (10.7%) and Ehlers-Danlos syndrome (8.7%), p = .0003. Finally, length of stay was increased in Marfan syndrome 12.5 days vs Ehlers-Danlos syndrome 7.4 days and controls 7.2 days ( p < 0.0001) as well as a higher median costs of index hospitalization in Marfan syndrome ($57,084 vs Ehlers-Danlos syndrome $22,032 and controls $26,520, p < 0.0001). Conclusions Patients with Marfan syndrome and Ehlers-Danlos syndrome differ from other patients undergoing vascular surgical procedures, with a significantly higher proportion of aortic procedures including open aneurysm repair and thoracic endovascular aortic repair. While they are younger with fewer comorbidities, due to the unique pathogenesis of their underlying connective tissue disorder, there is an overall higher rate of procedural complications and increased length of stay and cost for Marfan syndrome patients undergoing aortic surgery.

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Gibson, Christine, Cory Nielsen, Ramona Alex, Kimbal Cooper, Michael Farney, Douglas Gaufin, Jason Z. Cui, et al. "Mild aerobic exercise blocks elastin fiber fragmentation and aortic dilatation in a mouse model of Marfan syndrome associated aortic aneurysm." Journal of Applied Physiology 123, no. 1 (July 1, 2017): 147–60. http://dx.doi.org/10.1152/japplphysiol.00132.2017.

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Regular low-impact physical activity is generally allowed in patients with Marfan syndrome, a connective tissue disorder caused by heterozygous mutations in the fibrillin-1 gene. However, being above average in height encourages young adults with this syndrome to engage in high-intensity contact sports, which unfortunately increases the risk for aortic aneurysm and rupture, the leading cause of death in Marfan syndrome. In this study, we investigated the effects of voluntary (cage-wheel) or forced (treadmill) aerobic exercise at different intensities on aortic function and structure in a mouse model of Marfan syndrome. Four-week-old Marfan and wild-type mice were subjected to voluntary and forced exercise regimens or sedentary lifestyle for 5 mo. Thoracic aortic tissue was isolated and subjected to structural and functional studies. Our data showed that exercise improved aortic wall structure and function in Marfan mice and that the beneficial effect was biphasic, with an optimum at low intensity exercise (55–65% V̇o2max) and tapering off at a higher intensity of exercise (85% V̇o2max). The mechanism underlying the reduced elastin fragmentation in Marfan mice involved reduction of the expression of matrix metalloproteinases 2 and 9 within the aortic wall. These findings present the first evidence of potential beneficial effects of mild exercise on the structural integrity of the aortic wall in Marfan syndrome associated aneurysm. Our finding that moderate, but not strenuous, exercise protects aortic structure and function in a mouse model of Marfan syndrome could have important implications for the medical care of young Marfan patients. NEW & NOTEWORTHY The present study provides conclusive scientific evidence that daily exercise can improve aortic health in a mouse model of Marfan syndrome associated aortic aneurysm, and it establishes the threshold for the exercise intensity beyond which exercise may not be as protective. These findings establish a platform for a new focus on promoting regular exercise in Marfan patients at an optimum intensity and create a paradigm shift in clinical care of Marfan patients suffering from aortic aneurysm complications.

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De Backer, J., B. Loeys, and A. De Paepe. "Marfan and Marfan-like syndromes." Artery Research 3, no. 1 (2009): 9. http://dx.doi.org/10.1016/j.artres.2009.01.003.

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Toprak, Betül, Katalin Szöcs, Elvin Zengin-Sahm, Christoph Sinning, Amra Hot, Peter Bannas, Kurt Hecher, et al. "Marfan Syndrome Versus Bicuspid Aortic Valve Disease: Comparative Analysis of Obstetric Outcome and Pregnancy-Associated Immediate and Long-Term Aortic Complications." Journal of Clinical Medicine 9, no. 4 (April 15, 2020): 1124. http://dx.doi.org/10.3390/jcm9041124.

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Pregnancy poses a threat to women with aortopathy. Conclusive data on the obstetric and aortic outcome in this risk collective, especially when it comes to aortic complications in the long term, are still missing. This study offers a comparative analysis of pregnancy-associated outcome in 113 consecutive women with Marfan syndrome or bicuspid aortic valve disease, including 46 ever-pregnant and 37 never-pregnant women with Marfan syndrome, and 23 ever-pregnant and 7 never-pregnant females with bicuspid aortic valve disease. The overall obstetric outcome was comparable between ever-pregnant women with Marfan syndrome and with bicuspid aortic valve disease (p = 0.112). Pregnancy-associated aortic dissection occurred in two women with Marfan syndrome (3%) during a total of 62 completed pregnancies, whereas no single case of aortic event occurred in women with bicuspid aortic valve disease during a total of 36 completed pregnancies (p = 0.530). In the long-term follow-up, aortic dissection occurred in 21% of ever-pregnant women with Marfan syndrome, but in none of the women with bicuspid aortic valve disease (p = 0.022). Proximal aortic surgery was performed with similar frequency in ever-pregnant women with Marfan syndrome and with bicuspid aortic valve disease in the long term (p = 0.252). However, ever-pregnant women with Marfan syndrome were younger when surgery was performed (44 ± 9 vs. 59 ± 7 years; p = 0.041). In Marfan syndrome, long-term growth of the aorta was comparable between ever-pregnant and never-pregnant women. Pregnancy thus exhibited an increased immediate aortic risk only in women with Marfan syndrome, but not in women with bicuspid aortic valve disease. Previous pregnancy did not relate to an increased long-term risk of adverse aortic events in women with Marfan syndrome or with bicuspid aortic valve disease.

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Arunamata, Alisa A., Charles T. Nguyen, Scott R. Ceresnak, Anne M. Dubin, Inger L. Olson, Daniel J. Murphy, and Elif S. Selamet Tierney. "Utility of serial 12-lead electrocardiograms in children with Marfan syndrome." Cardiology in the Young 28, no. 8 (July 4, 2018): 1009–13. http://dx.doi.org/10.1017/s1047951118000707.

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AbstractObjectivesThe goal of this study was to assess the utility of serial electrocardiograms in routine follow-up of paediatric Marfan patients.MethodsChildren ⩽18 years who met the revised Ghent criteria for Marfan syndrome and received a 12-lead electrocardiogram and echocardiogram within a 3-month period were included. Controls were matched by age, body surface area, gender, race, and ethnicity, and consisted of patients assessed in clinic with a normal cardiac evaluation. Demographic, clinical, echocardiographic, and electrocardiographic data were collected.ResultsA total of 45 Marfan patients (10.8 [2.4–17.1] years) and 37 controls (12.8 [1.3–17.1] years) were included. Left atrial enlargement and left ventricular hypertrophy were more frequently present on 12-lead electrocardiogram of Marfan patients compared with controls (12 (27%) versus 0 (0%), p<0.001; and 8 (18%) versus 0 (0%), p=0.008, respectively); however, only two patients with left atrial enlargement on 12-lead electrocardiogram were confirmed to have left atrial enlargement by echocardiogram, and one patient had mild left ventricular hypertrophy by echocardiogram, not appreciated on 12-lead electrocardiogram. QTc interval was longer in Marfan patients compared with controls (427±16 versus 417±22 ms, p=0.03), with four Marfan patients demonstrating borderline prolonged QTc intervals for gender.ConclusionsWhile Marfan patients exhibited a higher frequency of left atrial enlargement and left ventricular hypertrophy on 12-lead electrocardiograms compared with controls, these findings were not supported by echocardiography. Serial 12-lead electrocardiograms in routine follow-up of asymptomatic paediatric Marfan patients may be more appropriate for a subgroup of Marfan patients only, specifically those with prolonged QTc interval at their baseline visit.

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Onetti, Yara, Thayna Meirelles, Ana P. Dantas, Katrin Schröder, Elisabet Vila, Gustavo Egea, and Francesc Jiménez-Altayó. "NADPH oxidase 4 attenuates cerebral artery changes during the progression of Marfan syndrome." American Journal of Physiology-Heart and Circulatory Physiology 310, no. 9 (May 1, 2016): H1081—H1090. http://dx.doi.org/10.1152/ajpheart.00770.2015.

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Marfan syndrome (MFS) is a connective tissue disorder that is often associated with the fibrillin-1 ( Fbn1) gene mutation and characterized by cardiovascular alterations, predominantly ascending aortic aneurysms. Although neurovascular complications are uncommon in MFS, the improvement in Marfan patients' life expectancy is revealing other secondary alterations, potentially including neurovascular disorders. However, little is known about small-vessel pathophysiology in MFS. MFS is associated with hyperactivated transforming growth factor (TGF)-β signaling, which among numerous other downstream effectors, induces the NADPH oxidase 4 (Nox4) isoform of NADPH oxidase, a strong enzymatic source of H2O2. We hypothesized that MFS induces middle cerebral artery (MCA) alterations and that Nox4 contributes to them. MCA properties from 3-, 6-, or 9-mo-old Marfan ( Fbn1C1039G/+) mice were compared with those from age/sex-matched wild-type littermates. At 6 mo, Marfan compared with wild-type mice developed higher MCA wall/lumen (wild-type: 0.081 ± 0.004; Marfan: 0.093 ± 0.002; 60 mmHg; P < 0.05), coupled with increased reactive oxygen species production, TGF-β, and Nox4 expression. However, wall stiffness and myogenic autoregulation did not change. To investigate the influence of Nox4 on cerebrovascular properties, we generated Marfan mice with Nox4 deficiency (Nox4−/−). Strikingly, Nox4 deletion in Marfan mice aggravated MCA wall thickening (cross-sectional area; Marfan: 6,660 ± 363 μm2; Marfan Nox4−/−: 8,795 ± 824 μm2; 60 mmHg; P < 0.05), accompanied by decreased TGF-β expression and increased collagen deposition and Nox1 expression. These findings provide the first evidence that Nox4 mitigates cerebral artery structural changes in a murine model of MFS.

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Husniah, Imraatul. "DIAGNOSIS DAN TATALAKSANA SINDROM MARFAN." JIMKI: Jurnal Ilmiah Mahasiswa Kedokteran Indonesia 8, no. 1 (February 26, 2020): 71–76. http://dx.doi.org/10.53366/jimki.v8i1.40.

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ABSTRAK Sindrom Marfan merupakan kelainan genetik jaringan ikat, bersifat autosomal dominan, dan disebabkan oleh mutasi pada gen fibrilin-1 gene (FNB1). Prevalensi sindrom Marfan yaitu 2-3 per 10.000 penduduk. Rasio perbandingan penderita antara laki-laki dan perempuan adalah sama. Sekitar 75% pasien mempunyai riwayat keluarga menderita penyakit ini. Gejala yang timbul sangat kompleks, meliputi gejala pada sistem kardiovaskular, okular, skeletal, pulmonal, dan kulit. Dilatasi root aorta merupakan penyebab utama yang meyebabkan morbiditas dan mortalitas pada penyakit sindrom Marfan. Diagnosis sindrom Marfan ditetapkan berdasarkan kriteria diagnostik Ghent nasology, untuk pasien dengan atau tanpa riwayat keluarga. Umumnya kriteria ini dilihat dari aneurisma/diseksi aorta dan ektopia lentis. Selain itu juga terdapat kriteria sistemik sebagai alat diagnostik untuk manifestasi klinis pada sistem organ lain. Diperlukan adanya monitoring pada pasien sindrom marfan untuk mengontrol keabnormalitasan pada aorta. Monitoring penyakit biasanya dilakukan dengan ekokardiografi, computed tomography (CT) dan cardiovascular magnetic resonance (CMR). Terapi pada sindrom Marfan terbagi atas terapi medis dan pembedahan. Terapi medis yang digunakan yaitu penghambat β, Angiotensin converting enzyme inhibitors (ACEi), selective angiotensin II type I receprtor blockers (ARB), dan doksisiklin. Terapi pembedahan meliputi operasi root aota, terapi operasi stabilisasi untuk skolisosis, dan ekstraksi diafragma iris dan lensa untuk managemen terapi okular. Kata kunci: Sindrom Marfan, FNB1, Root aorta, Ektopia lentis ABSTRACT Marfan syndrome is a connective tissue disorder, autosomal dominant and caused by mutation of fibrilin-1 gene (FNB1). Prevalence is 2-3 per 10.000. No gender differences. Approximately 75% of patients have a family background of this disease. The clinical manifestation is complex, included abnormalities in cardiovascular, ocular, sceletal, pulmonal and skin. Dilatation in the aortic root is the main cause of morbidity and mortality in this disease. Diagnosis of Marfan syndrome set based on Ghent nasology diagnostic criteria, for the patient with or without family history. More weight will be given to the two cardinal features of Marfan syndrome: aortic root aneurysm/dissection and ectopia lentis. There is also systemic criteria for diagnosed the other clinical manifestation. The monitoring of patients with Marfan syndrome should undergo an echocardiographic, computed tomography (CT) and cardiovascular magnetic resonance (CMR). The theraphy of Marfan syndrome is using both medical and surgery. The medical therapy is using a β blockers, Angiotensin converting enzyme inhibitors (ACEi), selective angiotensin II type I receprtor blockers (ARB), and doxycycline. Meanwhile the surgery included root aortic surgery, scoliosis stabilization surgery, and diaphragma extraction of iris and lense for the ocular therapy. Keywords: Marfan syndrome, FNB1, Aortic root, Ectopia lentis

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Shrestha, Chunu, and Varun Shrestha. "Marfan Syndrome with Bilateral Retinal Detachment." Medical Journal of Shree Birendra Hospital 13, no. 2 (August 3, 2015): 52–54. http://dx.doi.org/10.3126/mjsbh.v13i2.13118.

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Marfan syndrome is an autosomal dominant systemic disorder of connective tissue. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, hearts, and the large blood vessels. It is described by Antoine Marfan in 1896. Aortic root aneurysm and ectopia lentis are the cardinal features. In the absence of family history, the presence of these two manifestations is sufficient for confirmatory diagnosis of Marfan syndrome. Patient with ocular manifestations should be screened for cardiac involvement to support diagnosis. Retinal detachment is a potentially dangerous manifestation for its sight threatening nature. There is no cure for Marfan syndrome, so treatment focuses on managing the symptoms and reducing the risk of complications. Recent advances in diagnosis, improved surgical technique and application of prophylaxis has contributed in preservation of sight in such patients.

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Potter, K. A., and T. E. Besser. "Cardiovascular Lesions in Bovine Marfan Syndrome." Veterinary Pathology 31, no. 5 (September 1994): 501–9. http://dx.doi.org/10.1177/030098589403100501.

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Bovine Marfan syndrome is a genetic disease with many of the clinical and pathologic manifestations of human Marfan syndrome. Major manifestations include ectopia lentis and aortic dilatation, aneurysm, and rupture. Affected cattle have a defect in fibrillin metabolism similar to that in human patients. Ten cattle were followed and their disease progression and lesions documented. Ages ranged from a term fetus (No. 9) to a 4-year-old cow (No. 4); three animals were male (Nos. 1–3) and seven were female (Nos. 4–10). Of eight animals (80%) that died or were euthanatized (Nos. 1–3, 5–9), six (75%) had severe cardiovascular lesions identified at necropsy. Gross cardiovascular lesions of bovine Marfan syndrome included cardiac tamponade secondary to aortic rupture (animal Nos. 3, 6, 8), dissecting aneurysms of the aorta and pulmonary artery (animal No. 5), and intrauterine cardiac tamponade secondary to rupture of the pulmonary artery (animal No. 9). Microscopically, Verhoeff Van Gieson-stained sections of aorta contained severe fragmentation of the elastic laminae in the aortic media, but the cystic medial necrosis seen in human Marfan aortae was not identified, even in the chronic aortic dissection. Ultrastructurally, affected aortic tissue was characterized by thin, dark elastic fibers with abundant, tangled microfibrils on the periphery, Swirls of collagen fibers and bundles of hypertrophic smooth muscle cells replaced damaged elastic laminae. Gross and microscopic cardiovascular lesions in bovine Marfan syndrome are similar to those in human Marfan syndrome. Bovine Marfan syndrome is a valuable model for investigation of molecular pathogenesis and treatment of human Marfan syndrome.

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Loja Oropeza, David, Maricela Vilca, Roberto Avilés, Yngrid Necochea, María Manrique, and Rufo Postigo. "Síndrome de Marfan. A Propósito de un Caso." Anales de la Facultad de Medicina 62, no. 1 (April 7, 2014): 56. http://dx.doi.org/10.15381/anales.v62i1.4152.

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El síndrome de Marfan es una enfermedad hereditaria autosómica dominante que compromete muchos sistemas (esquelético, ocular, cardiovascular, cutáneo, pulmonar, abdominal, neurológico). La causa del síndrome de Marfan es desconocida, pero recientes estudios genéticos han relacionado esta enfermedad a un defecto microfibrilar extracelular localizado en el cromosoma 15q15-q21,3. Las características asociadas al síndrome de Marfan requieren un enfoque multidisciplinario. Reportamos un caso de síndrome de Marfan esporádico y revisamos las manifestaciones clínicas, los nuevos criterios de Ghent requeridos para el diagnóstico y las estrategias de manejo, que incluyen evaluaciones periódicas, modificación de factores de riesgo, consejería genética y cirugía para pacientes seleccionados.

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Ganesh, Rajendran, Rajendran Vijayakumar, and Haridoss Selvakumar. "Marfan Syndrome: A Case Report." Case Reports in Dentistry 2012 (2012): 1–4. http://dx.doi.org/10.1155/2012/595343.

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Marfan syndrome is an autosomal dominant systemic disorder of the connective tissue. Children affected by the Marfan syndrome carry a mutation in one of their two copies of the gene that encodes the connective tissue protein fibrillin-1. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body. A case report of Marfan syndrome has been reported with oral features. The dental problems of the child were treated under general anesthesia and a one-month review showed intact stainless steel crowns' restorations and no signs of secondary caries.

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Lammers, Roberta Andréia, Letícia Stefenon, and Paula Wietholter. "Aspectos gerais e bucais da Síndrome de Marfan." ARCHIVES OF HEALTH INVESTIGATION 9, no. 5 (October 22, 2020): 498–502. http://dx.doi.org/10.21270/archi.v9i5.4672.

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Introdução: A Síndrome de Marfan é uma desordem genética que afeta o tecido conectivo. No contexto da Odontologia, poucos profissionais da área conhecem os sintomas da síndrome, bem como os cuidados necessários no atendimento ao paciente. Objetivo: O objetivo deste trabalho foi descrever as características anatômicas gerais e bucais de pessoas com Síndrome de Marfan. Material e método: Foram realizadas pesquisas nas bases de dados EBSCO, Bireme e Pubmed entre os anos de 2017 e 2018, sendo utilizados os seguintes descritores: Síndrome de Marfan AND Odontologia AND Manifestações bucais. Resultados: Foram localizados 13 artigos na base de dados BIREME, 23 no PubMed e cinco no EBSCO, totalizando 41 artigos. Desses, 10 foram selecionados para a realização desta pesquisa. As principais alterações gerais descritas na literatura incluem membros superiores e inferiores longos, pé chato, corpo fino com o segmento inferior maior que o segmento superior, aracnodactilia, peito plano com costelas proeminentes e escoliose, pectus carinatum, pectus excavatum, cifose, hiperextensibilidade, dolicostenomelia, alterações oculares e problemas cardíacos. As principais alterações bucais descritas incluem hipoplasia maxilar, retrognatia mandibular, macrostomia, dentição altamente apinhada com mordidas cruzadas anteriores e posteriores, palato de arco alto e relação molar classe II de Angle em ambos os lados e apresentam maior índice de doenças periodontais do que pacientes normais. Conclusões: Os principais cuidados que devem ser observados durante o tratamento odontológico relacionam-se a anamnese e ao exame clínico. O melhor entendimento dessa patologia poderá orientar decisões terapêuticas para prevenção e correção das desordens mencionadas neste trabalho. Descritores: Síndrome de Marfan; Odontologia; Manifestações Bucais. Referências Muñoz Sandoval J, Saldarriaga-Gil W, Isaza de Lourido C. Síndrome de Marfan, mutaciones nuevas y modificadoras del gen FBN1. 2014;27(2):206-15. García JLG, Cedeño LM, Medina JAG. Síndrome de Marfan. Medisan. 2007;11(4):1-5. Pfeiffer MET. Síndrome de Marfan em crianças e adolescentes: importância, critérios e limites para o exercício físico. Rev DERC. 2011;17(3):82-6. Lebreiro A, Martins E, Cruz C, Almeida J, Maciel MJ, Cardoso JC, et al. Síndrome de Marfan: manifestações clínicas, fisiopatologia e novas perspectivas da terapêutica farmacológica. Rev Port Cardiol. 2010; 29(6):1021-36. Velásquez C. Manejo odontológico integral en centro quirúrgico de un paciente con Sindrome de Marfan. Odontol Pediatr (Lima). 2015;14(1):80-5. Tsang AK, Taverne A, Holcombe T. Marfan syndrome: a review of the literature and case report. Spec Care Dentist. 2013;33(5):248-54. Bilodeau JE. Retreatment of a patient with Marfan syndrome and severe root resorption. Am J Orthod Dentofacial Orthop. 2010;137(1):123-34. Baraldi CEE, Paris MF, Robinson WM. A síndrome de Marfan e seus aspectos odontológicos: relato de caso e revisão da literatura. Rev Fac Odontol Porto Alegre. 2008;49(3):36-9. Sinha A, Kaur S, Raheel SA, Kaur K, Alshehri M, Kujan O. Oral manifestations of a rare variant of Marfan syndrome. Clin Case Rep. 2017;5(9):1429-34. Anuthama K, Prasad H, Ramani P, Premkumar P, Natesan A, Sherlin HJ. Genetic alterations in syndromes with oral manifestations. Dent Res J (Isfahan). 2013;10(6):713-22. Jain E, Pandrey RK. Marfan Syndrome. BMJ Case Rep. 2013;25(16):16-22. Staufenbiel I, Hauschild C, Kahl-Nieke B, Vahle-Hinz E, von Kodolitsch Y, Berner M, et al. Periodontal Conditions in patients with Marfan Syndrome: a multienter case conrol study. BMC Oral Health. 2013;13:59. Mallineni SK, Jayaraman J, Yiu CK, King NM. Concomitant occurrence of hypohyperdontia in a patient with Marfan syndrome: a review of the literature and report of a case. J Investig Clin Dent. 2012;3(4):253-57. Gott VL. Antoine Marfan and his syndrome: one hundred years later. Md Med J. 1998;47(5):247-52. Alves IC, Navarro F. Exercício fisico e sindrome de Marfan. Rev Bras Prescrição e Fisiologia do Exercício. 2008;2(8):149-57. Sivasankari T, Mathew P, Austin RD, Devi S. Marfan Syndrome. J Pharm Bioallied Sci. 2017;9(1):73-7. Sabbatini IF. Avaliação dos components anatômicos do sistema estomatognático de crianças com bruxismo, por meio de imagens obtidas por tomografia computadorizada cone beam [dissertação de Mestrado]. Ribeirão Preto: Universidade do Estado de São Paulo; 2012. Cistulli PA, Richards GN, Palmisano RG, Unger G, Berthon-Jones M, Sullivan CE. Influence of maxillary constriction on nasal resistance and sleep apnea severity in patients with Marfan's syndrome. Chest. 1996;110(5):1184-8.

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Krishnan, T. Venkata, and V. V. N. Goutham V. V. N. Goutham. "Marfan Syndrome: an Accidental Diagnosis." International Journal of Scientific Research 3, no. 2 (June 1, 2012): 352–54. http://dx.doi.org/10.15373/22778179/feb2014/113.

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Rakhmanov, Yeltay, Paolo Enrico Maltese, Stefano Paolacci, Carla Marinelli, Marco Castori, Tommaso Beccari, Munis Dundar, and Matteo Bertelli. "Genetic testing for Marfan-like disorders." EuroBiotech Journal 2, s1 (September 1, 2018): 38–41. http://dx.doi.org/10.2478/ebtj-2018-0033.

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Abstract Marfan-like disorders are inherited conditions with features resembling Marfan syndrome but without a pathogenic variant in FBN1, and/or without a clinical diagnosis of Marfan syndrome according to the Revised Ghent criteria, and/or with a pathogenic variant in a different disease gene. Marfan-like disorders are clinically and genetically heterogeneous and have variable prognosis. They may have autosomal dominant or autosomal recessive patterns of inheritance. The prevalence of most Mar-fan-like disorders is unknown. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. Molecular testing is useful for diagnosis confirmation, as well as differential diagnosis, appropriate genetic counselling and access to clinical trials.

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Rao, Prashant, Jack B. Keenan, Taufiek K. Rajab, Samuel Kim, Richard Smith, Orazio Amabile, and Zain Khalpey. "Total artificial heart implantation in a young Marfan syndrome patient." International Journal of Artificial Organs 41, no. 3 (February 20, 2018): 175–77. http://dx.doi.org/10.1177/0391398817752297.

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Introduction: Cardiovascular complications represent the leading cause of morbidity and mortality in patients with Marfan syndrome. Here, we describe a unique case where a total artificial heart was implanted in a young Marfan syndrome woman. Methods: A 22-year-old postpartum African American female with Marfan syndrome developed multiple severe valve dysfunction and biventricular failure that was refractory to medical management. She previously had a Bentall procedure for Type A aortic dissection and repair of a Type B dissection. Results: We implanted a total artificial heart with a good outcome. Conclusion: Total artificial heart is a durable option for severe biventricular failure and multiple valvular dysfunction as a bridge to transplant in a young patient with Marfan syndrome.

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Ágota, Annamária, Bence Ágg, Kálmán Benke, József Gábor Joó, Zoltán Langmár, Krisztina Marosi, Zsuzsanna Lelovics, et al. "The establishment of the Marfan syndrome biobank in Hungary." Orvosi Hetilap 153, no. 8 (February 2012): 296–302. http://dx.doi.org/10.1556/oh.2012.29295.

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Marfan syndrome is a genetic disorder of the connective tissue, which affects approximately 2000–3000 individuals in Hungary. Given its multi-systemic manifestations, this disorder is often difficult to diagnose. To date, the National Marfan Register system contains approximately 250 cases, and this number is dynamically increasing. Aims: Collection of data from biological samples, clinical parameters, and lifestyle factors in Hungarian patients with Marfan syndrome. Methods: In terms of the criteria used for selection, those cases were chosen where the disorder could be clearly diagnosed on the basis of the patients’ cardiovascular and systemic symptoms, as well as of their family history, in line with the guidelines set by the Revised Ghent Nosology. Results: For the purposes of developing the biobank used for the research, 102 cases were selected from the Marfan Register (cDNA from 55 patients, genomic DNA and serum from 102 patients). In addition to the samples, data have been obtained by using internationally validated surveys to further examine the role of physical activity, nutrition and various psychological factors. Conclusions: The establishment of the Marfan Biobank enables scientists to effectively carry out research based on genetic, gene-expression and protein analysis. The biobank also provides new opportunities to study Hungarian patients with Marfan syndrome. Orv. Hetil., 2012, 153, 296–302.

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Pradhan, Ben B., Meenakshi Bhasin, and Norman Y. Otsuka. "A Metatarsal Equivalent to the Metacarpal Index in Marfan Syndrome." Foot & Ankle International 26, no. 10 (October 2005): 881–85. http://dx.doi.org/10.1177/107110070502601014.

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Background: Foot problems are common in patients with Marfan syndrome because of the ligamentous laxity that affects the weightbearing joints most. Such patients frequently are seen by their general practitioners or podiatrists. Educating primary health care providers about a metatarsal index, if it is sufficiently sensitive and specific, may help patients get early and appropriate workup for connective tissue disorders. Methods: A metatarsal equivalent to the metacarpal index (MCI) in the hand was evaluated as a diagnostic tool for Marfan syndrome (and possibly other connective tissue disorders). Fifty-six patients were studied. Sixteen had a genetic diagnosis of Marfan syndrome. There were 20 controls each for the MCI and the metatarsal index (MTI). Hand and foot radiographs were reviewed. Results: The average MCI in patients with Marfan syndrome was 9.8 compared to 7.6 in the control group ( p < 0.0005). The average MTI was 12.7 and 9.8, respectively ( p < 0.0005). An MCI value of 8.5 and an MTI value of 10.5 had the best statistical profiles (combination of sensitivity and specificity) in diagnosing Marfan syndrome in our study population. Conclusion: The MTI as a screening tool for Marfan syndrome is as effective as, if not more than, the well-recognized MCI.

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Balke, Maryam, Helmar Lehmann, Gereon Fink, and Gilbert Wunderlich. "30-jähriger Patient mit V. a. Marfan-Syndrom und zunehmend beeinträchtigter Gehfähigkeit." DMW - Deutsche Medizinische Wochenschrift 142, no. 13 (July 2017): 982–85. http://dx.doi.org/10.1055/s-0043-106279.

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Zusammenfassung Anamnese Bei einem 30-jährigen Mann mit seit der Kindheit zunehmender Muskelschwäche, Konzentrationsstörungen, schlankem Habitus und leichter Aortenklappeninsuffizienz wurde im Alter von 14 Jahren ein Marfan-Syndrom diagnostiziert. Untersuchungen 13 Jahre später wurde genetisch und nach der Gent-Nosologie interdisziplinär die Diagnose ausgeschlossen. Die klinische und elektrophysiologische Verdachtsdiagnose einer myotonen Dystrophie Typ 1 wurde genetisch gesichert. Therapie und Verlauf Wie beim Marfan-Syndrom handelt es sich bei der Myotonen Dystrophie um eine Multisystemerkrankung mit der Gefahr tödlicher Herzrhythmusstörungen. Eine interdisziplinäre Betreuung durch Neurologen, Internisten, Augenärzte, Logopäden und Physiotherapeuten ist notwendig. Folgerung Der Habitus allein als Grundlage für die Diagnose eines Marfan-Syndroms ist nicht ausreichend. Vor allem müssen Marfan-untypische Symptome wie kognitive Defizite und progrediente Paresen beachtet werden.

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Amin, Nurulhuda Md, Safiyah Jameelah Mohd Yusof, Nor Fadzillah Abd Jalil, Raja Norliza Raja Omar, and Mushawiahti Mustapha. "Mommy, why can’t I see clearly?" Malaysian Journal of Ophthalmology 2, no. 3 (September 28, 2020): 244–50. http://dx.doi.org/10.35119/myjo.v2i3.110.

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Ectopia lentis or crystalline lens subluxation is one of the major criteria to diagnose Marfan syndrome. It may vary from mild lens subluxation to lens dislocation. Herewith is a case report of a 4-year-old autistic boy who had never been diagnosed with Marfan syndrome. He presented to the clinic after his parents noticed he had difficulty focusing on near objects. His bilateral best-corrected visual acuity was 6/60. On examination, there was bilateral lens subluxation superotemporally and lens equator blocking his visual axis. He was sent to the paediatric team and further Marfan workout showed dilated aortic root. He was then diagnosed with Marfan syndrome. He underwent bilateral lens aspiration, anterior vitrectomy, and iris-claw lens implantation. His postoperative bilateral visual acuity on day 1 was 6/30 and his best-corrected visual acuity 3 months after surgery was 6/9 for both eyes. In conclusion, ophthalmologists play an important role in diagnosing and managing Marfan syndrome. Early diagnosis is important to help preserve vision and improve quality of life.

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Luneva, Ekaterina B., Eduard G. Malev, Alexandra L. Korshunova, Svetlana V. Reeva, Evgeniy V. Timofeev, and Eduard V. Zemtsovsky. "Manifestation of cardiomyopathy in patients with Marfan syndrome and marfanoid habitus." Pediatrician (St. Petersburg) 7, no. 4 (December 15, 2016): 96–101. http://dx.doi.org/10.17816/ped7496-101.

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Marfan syndrome is a common genetically determined pathology of connective tissue. It was showed a reduction in systolic and diastolic left ventricular function in patients with Marfan syndrome, as well as the increase in left ventricle size, regardless of previous surgical intervention. Now in literature use the term “cardiomyopathy in Marfan syndrome,” denoting changes of the left ventricular function, in the absence of hemodynamic reasons for its deterioration. In this paper we evaluated the morphological and functional characteristics of the left ventricle, not only in patients with Marfan syndrome, but also in patients with marfanoid habitus.Materials and methods. The study included 98 people, 8 of them – patients with Marfan syndrome, 24 examinees with marfanoid habitus and 66 healthy examinees – control group. To all patients entered into the study, echocardiography was performed. Additionally global and local deformation of the myocardium using techniques speckle tracking was assessed.Resultssignificant difference circumferental deformation parameters of the anterior and lateral walls of the left ventricle and its statistically significant reduction in the group with marfanoid habitus was obtained.Conclusionsimpaired regional contractility may be the first sign of cardiomyopathy in patients with Marfan syndrome and in such a dysplastic phenotype as marfanoid habitus that is likely associated with hereditary disorders of the structure and function of connective tissue in various states of dysplastic phenotipes.

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Yuan, Ma, Zhang, and Jing. "Transforming growth factor-beta signaling pathway in Marfans syndrome: a preliminary histopathological study." Vasa 40, no. 5 (September 1, 2011): 369–74. http://dx.doi.org/10.1024/0301-1526/a000133.

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Background: Marfans syndrome is an inherited disorder that affects the connective tissue. It has been proposed that mutations of FBN1 gene or of transforming growth factor (TGF)-beta type II receptor may be responsible for its pathogenesis. However, the role of TGF-beta signaling pathway in the development of Marfans syndrome has not been comprehensively investigated. Materials and methods: Surgical specimens of the aorta were obtained from two female Marfan patients, and the control aortic tissue was taken from an autopsy of a healthy individual. The aortic specimens were examined with hematoxylin-eosin, Massons trichrome, von Gieson/victoria blue-van Gieson bichrome, and immunohistochemical stainings of TGF-beta1, TGF-beta type I receptor, Smad2/3, Smad4 and Smad7. Results: Hematoxylin-eosin staining demonstrated severe elastic lamellar disruption and patchy vascular smooth muscle dissolution in the aortic media of the Marfan patients. Collagen deposition, interlamilar elastic fiber fragmentation, loss or proliferation, and acid mucopolysaccharide accumulation were observed in the disarrayed aortic wall structures of Marfan patients by Massons trichrome, victoria blue-van Gieson bichrome, and Alcian blue and periodic schiffs (AB-PAS) stainings, respectively. By immunohistochemistry, structural disruptions with enhanced TGF-beta;1 in the cytoplasm, Smad2/3 in the interstices, Smad4 in the cytoplasm, nuclei or interstices, and OOO Smad7, in the nucleus along with attenuated TGF-beta type I receptor in the aortic tissues of Marfan patients in comparison to the healthy control. Conclusions: Marfan patients may have aberrant TGF-beta signaling pathway associated with increased collagen deposition, interlamilar elastic fiber degenerative changes, and acid mucopolysaccharide accumulation. The signaling dysregulation may play an important role in the pathogenesis of this genetic disorder.

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Sharma, Saurabh, Radha Govind Khandelwal, and Prabha Om. "Laparoscopic correction of midgut volvulus due to malrotation in a patient with Marfans syndrome." International Surgery Journal 7, no. 12 (November 27, 2020): 4241. http://dx.doi.org/10.18203/2349-2902.isj20205393.

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This case describes 13-year-old female with Marfans syndrome who presented recurrent small intestinal obstruction which was later diagnosed as acute midgut volvulus due to malrotation after extensive workup. Laparoscopic Ladd’s procedure was performed. Patient had uneventful recovery and discharged on post-operative day five. To best of our knowledge the index case is the first case of laparoscopic ladds procedure in known case of Marfans syndrome.

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Rudoy, A. S. "TGF-beta-dependent mechanisms of patho genesis of Marfan syndrome and related disorders." "Arterial’naya Gipertenziya" ("Arterial Hypertension") 15, no. 2 (April 28, 2009): 223–26. http://dx.doi.org/10.18705/1607-419x-2009-15-2-223-226.

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Recent research on the molecular physiology of fibrillin and the pathophysiology of Marfan syndrome and related connective tissue disorders has changed our understanding of this pathology by demonstrating changes in growth factor signalling and in matrix-cell interactions. Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in fibrillin-1. Fibrillin-1 contributes to the regulated activation of the cytokine TGF-ß, and enhanced signaling is a consequence of fibrillin-1 deficiency. Thereby, increased TGF-ß signaling may contribute to the multisystem pathogenesis of Marfan syndrome, including the development of myxomatous changes of the atrioventricular valve, aortic aneurysm and dissection, joint hypermobility syndrome. These data suggest that anti-TGF-β therapeutic strategy for patients with Marfan syndrome can be useful in prevention of the major life-threatening manifestation of this disorder.

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Czerżyńska, Magdalena, Zuzanna Judyta Tyrakowska, Anna Wiśniewska, and Emilia Rozwadowska. "A patient with Marfan syndrome in a general practitioner’s office." Pediatria i Medycyna Rodzinna 11, no. 2 (June 30, 2015): 134–44. http://dx.doi.org/10.15557/pimr.2015.0011.

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Domán, István, Ferenc Kövér, Tamás Illés, and Tamás Dóczi. "Subluxation of a lumbar vertebra in a patient with Marfan syndrome." Journal of Neurosurgery: Spine 94, no. 1 (January 2001): 154–57. http://dx.doi.org/10.3171/spi.2001.94.1.0154.

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✓ Marfan syndrome is a hereditary disorder of the connective tissue that, in its most classic form, includes cardiovascular, ocular, and skeletal features. The neurological problems associated with the disease are mainly caused by intracranial vascular abnormalities and spinal meningeal defects, but other neurological manifestations are rarely present. Scoliosis, a skeletal manifestation of the syndrome, occurs frequently, but its onset, natural history, and radiological characteristics differ from those of the idiopathic form. Scoliosis in a patient with Marfan syndrome seldom accompanies other spinal deformities. In this article the authors describe the case of a patient with Marfan syndrome and scoliosis in whom lumbar subluxation occurred. This rare deformity, diagnosed on three-dimensional computerized tomography scanning, has not been reported previously in association with Marfan syndrome. Its development can be explained in terms of the theory of progressive rotatory dislocation. The morphological characteristics, clinical features, and surgical treatment of the deformity are presented.

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Rudoy, Andrey S., and Alexey M. Uryvaev. "Functional dyspepsia through chronic gastritis in patients with marfan syndrome and marfan-like states." Pediatrician (St. Petersburg) 7, no. 3 (September 15, 2016): 76–83. http://dx.doi.org/10.17816/ped7376-83.

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The article presents the results of clinical and endoscopic examination of patients (n = 89; 33 ± 9,3 years; F : M/23 : 66) with confirmed chronic gastritis associated with hereditary disorders of connective tissue (Marfan syndrome phenotype and Marfan-like states) in order to examine the relationship associated HDCT as monogenic diseases - Marfan syndrome, as well as related pathology in the form of Marfan-like states with the clinical manifestations of functional dyspepsia and endoscopic picture of H. pylori infection in chronic gastritis. Diagnosis of Marfan syndrome was based on the revised criteria of Ghent. For the differential diagnosis with other “related” diseases of the connective tissue used syndrome diagnostic criteria of hypermobility of joints, Ehlers - Danlos syndrome. Evaluation of complaints and diagnosis of functional dyspepsia was based on the criteria of Rome III (2006) and the Florence Agreement. Evaluation of the symptoms of functional dyspepsia showed different from control (p < 0,05) lower frequency of epigastric pain syndromes and postprandial distress syndrome in a group with Marfan syndrome not associated with H. pylori infection and, at the same time, does not correlate with available in this group of patients a high frequency of precancerous lesions in the gastric mucosa. Frequent endoscopic manifestations associated with the HDCT served esophagitis gastroduodenal motility disorders and the development of GERD with catarrhal esophagitis (p < 0,05) and the absence of erosive and ulcerative lesions of gastroduodenal mucosa (p < 0,05). The findings strongly indicate the absolute necessity of endoscopic and morphological screening regardless of the presence of gastrointestinal complaints in patients with associated HDCT.

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Crawford, Doreen, and Annette Dearmun. "Marfan syndrome." Nursing Children and Young People 29, no. 8 (October 10, 2017): 22. http://dx.doi.org/10.7748/ncyp.29.8.22.s23.

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Shirley, LCDR Eric D., and Paul D. Sponseller. "Marfan Syndrome." Journal of the American Academy of Orthopaedic Surgeons 17, no. 9 (September 2009): 572–81. http://dx.doi.org/10.5435/00124635-200909000-00004.

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Bitterman, Adam D., and Paul D. Sponseller. "Marfan Syndrome." Journal of the American Academy of Orthopaedic Surgeons 25, no. 9 (September 2017): 603–9. http://dx.doi.org/10.5435/jaaos-d-16-00143.

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Mátyás, G., B. Steinmann, D. Baumgartner, and C. Baumgartner. "Marfan Syndrome." Methods of Information in Medicine 44, no. 04 (2005): 487–97. http://dx.doi.org/10.1055/s-0038-1633999.

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Summary Objectives: Marfan syndrome (MFS) is an autosomal dominant inherited connective tissue disorder caused by mutations in the fibrillin-1 (FBN1) gene with variable clinical manifestations in the cardiovascular, musculoskeletal and ocular systems. Methods: Data of molecular genetic analysis and a catalogue of clinical manifestations including aortic elastic parameters were mined in order to (i) assess aortic abnormality before and during medical treatment, and to (ii) identify novel correlations between the genotype and phenotype of the disease using hierarchical cluster analysis and logistic regression analysis. A score measure describing the similarity between a patient’s clinical symptoms and a characteristic phenotype class was introduced. Results: A probabilistic model for monitoring the loss of aortic elasticity was built on merely aortic parameters of 34 patients with classic MFS and 43 control subjects showing a sensitivity of 82% and a specificity of 96%. The clinical phenotypes of 100 individuals with classical or suspected MFS were clustered yielding four different phenotypic expressions. The highest correlation was found between FBN1 missense mutations, which manifested as ectopia lentis, skeletal major and skin minor criteria, and two out of four clustered phenotypes. The probability of the presence of a missense mutation in both phenotype classes is approximately 70%. Conclusions: Monitoring of aortic elastic properties during medical treatment may serve as additional criterion to indicate elective surgical interventions. Genotype-phenotype correlation may contribute to anticipate the clinical consequences of specific FBN1 mutations more comprehensively and may be helpful to identify MFS patients at risk at an early stage of disease.

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Galasko, G. "Marfan syndrome." Journal of Medical Genetics 33, no. 12 (December 1, 1996): 1051. http://dx.doi.org/10.1136/jmg.33.12.1051.

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Gray, J. R., and S. J. Davies. "Marfan syndrome." Journal of Medical Genetics 33, no. 5 (May 1, 1996): 403–8. http://dx.doi.org/10.1136/jmg.33.5.403.

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De Paepe, A., and R. C. Hennekam. "Marfan syndrome." Journal of Medical Genetics 34, no. 7 (July 1, 1997): 614. http://dx.doi.org/10.1136/jmg.34.7.614.

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Jain, E., and R. K. Pandey. "Marfan syndrome." Case Reports 2013, dec11 2 (December 11, 2013): bcr2013201632. http://dx.doi.org/10.1136/bcr-2013-201632.

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Houlston, R. S., and P. Parry. "Marfan syndrome." Journal of Medical Genetics 27, no. 12 (December 1, 1990): 791–92. http://dx.doi.org/10.1136/jmg.27.12.791-b.

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Schulthess, Kolyvanos Naumann, Käser, and Vetter. "Marfan-Syndrom." Praxis 95, no. 10 (March 1, 2006): 349–55. http://dx.doi.org/10.1024/0369-8394.95.10.349.

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Lee, Brendan, and Francesco Ramirez. "Marfan syndrome." Current Opinion in Pediatrics 4, no. 6 (December 1992): 965–71. http://dx.doi.org/10.1097/00008480-199212000-00010.

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Sivasankari, T., Philips Mathew, RaviDavid Austin, and Sakthi Devi. "Marfan syndrome." Journal of Pharmacy And Bioallied Sciences 9, no. 1 (2017): 73. http://dx.doi.org/10.4103/jpbs.jpbs_326_16.

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Gonzales, Elizabeth A. "Marfan syndrome." Journal of the American Academy of Nurse Practitioners 21, no. 12 (December 2009): 663–70. http://dx.doi.org/10.1111/j.1745-7599.2009.00461.x.

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Bolar, Nikhita, Lut Van Laer, and Bart L. Loeys. "Marfan syndrome." Current Opinion in Pediatrics 24, no. 4 (August 2012): 498–504. http://dx.doi.org/10.1097/mop.0b013e3283557d4c.

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Castellano, José M., George Silvay, and Javier G. Castillo. "Marfan Syndrome." Seminars in Cardiothoracic and Vascular Anesthesia 18, no. 3 (December 5, 2013): 260–71. http://dx.doi.org/10.1177/1089253213513842.

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Journal articles on the topic 'Marfaing'

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