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marfan syndrome with type 1 diabetes

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https://www.readbyqxmd.com/read/27728723/marfan-syndrome-with-type-1-diabetes-and-pulmonary-tuberculosis-a-rare-case
#1
Hemanth Kumar Kalla, A Venugopal Guptha, G Vijaya Kumar, G Lokendra Nath
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/26902431/characterization-of-metabolic-health-in-mouse-models-of-fibrillin-1-perturbation
#2
Tezin A Walji, Sarah E Turecamo, Antea J DeMarsilis, Lynn Y Sakai, Robert P Mecham, Clarissa S Craft
Mutations in the microfibrillar protein fibrillin-1 or the absence of its binding partner microfibril-associated glycoprotein (MAGP1) lead to increased TGFβ signaling due to an inability to sequester latent or active forms of TGFβ, respectively. Mouse models of excess TGFβ signaling display increased adiposity and predisposition to type-2 diabetes. It is therefore interesting that individuals with Marfan syndrome, a disease in which fibrillin-1 mutation leads to aberrant TGFβ signaling, typically present with extreme fat hypoplasia...
September 2016: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/23614095/long-term-outcomes-of-aortic-root-replacement-18-years-experience
#3
Ji Hyun Bang, Yu-Mi Im, Joon Bum Kim, Suk Jung Choo, Cheol Hyun Chung, Jae Won Lee, Sung-Ho Jung
BACKGROUND: We reviewed the long-term outcomes of aortic root replacement at Asan Medical Center and investigated the predictors affecting mortality. MATERIALS AND METHODS: A retrospective analysis was performed on 225 consecutive adult patients undergoing aortic root replacement with mechanical conduits (n=169), porcine aortic root prosthesis (n=23), or aortic homografts (n=33) from January 1992 to September 2009. The median follow-up duration was 6.1 years (range, 0 to 18...
April 2013: Korean Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/22748602/how-to-diagnose-a-lipodystrophy-syndrome
#4
REVIEW
Marie-Christine Vantyghem, Anne-Sophie Balavoine, Claire Douillard, Frédérique Defrance, Lucile Dieudonne, Fanny Mouton, Christine Lemaire, Nicole Bertrand-Escouflaire, Marie-Françoise Bourdelle-Hego, Fabrice Devemy, Anne Evrard, Dominique Gheerbrand, Caroline Girardot, Sophie Gumuche, Christine Hober, Hélène Topolinski, Blandine Lamblin, Bénédicte Mycinski, Amélie Ryndak, Wassila Karrouz, Etienne Duvivier, Emilie Merlen, Christine Cortet, Jacques Weill, Dominique Lacroix, Jean-Louis Wémeau
The spectrum of adipose tissue diseases ranges from obesity to lipodystrophy, and is accompanied by insulin resistance syndrome, which promotes the occurrence of type 2 diabetes, dyslipidemia and cardiovascular complications. Lipodystrophy refers to a group of rare diseases characterized by the generalized or partial absence of adipose tissue, and occurs with or without hypertrophy of adipose tissue in other sites. They are classified as being familial or acquired, and generalized or partial. The genetically determined partial forms usually occur as Dunnigan syndrome, which is a type of laminopathy that can also manifest as muscle, cardiac, neuropathic or progeroid involvement...
June 2012: Annales D'endocrinologie
https://www.readbyqxmd.com/read/22503227/acute-type-b-aortic-dissection-in-the-absence-of-aortic-dilatation
#5
Santi Trimarchi, Frederik H W Jonker, James B Froehlich, Gilbert R Upchurch, Frans L Moll, Bart E Muhs, Vincenzo Rampoldi, Himanshu J Patel, Kim A Eagle
BACKGROUND: Increasing aortic diameter is thought to be an important risk factor for acute type B aortic dissection (ABAD). However, some patients develop ABAD in the absence of aortic dilatation. In this report, we sought to characterize ABAD patients who presented with a descending thoracic aortic diameter <3.5 cm. METHODS: We categorized 613 ABAD patients enrolled in the International Registry of Acute Aortic Dissection from 1996 to 2009 according to the aortic diameter <3...
August 2012: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/20466427/outcomes-of-iris-claw-anterior-chamber-versus-iris-fixated-foldable-intraocular-lens-in-subluxated-lens-secondary-to-marfan-syndrome
#6
RANDOMIZED CONTROLLED TRIAL
Denise E Hirashima, Eduardo S Soriano, Rodrigo L Meirelles, Gustave N Alberti, Walton Nosé
PURPOSE: To compare the outcome of phacoemulsification using 2 different iris-fixation techniques for intraocular lens (IOL) replacement, a foldable posterior chamber IOL (PCIOL; AcrySof MA60AC, Alcon Laboratories Inc, Fort Worth, TX) and an iris-claw anterior chamber IOL (ACIOL; Artisan, Ophtec BV), for treatment of subluxated lenses in patients with Marfan syndrome (MFS). DESIGN: Randomized, controlled trial. PARTICIPANTS: A total of 31 eyes of 16 patients with subluxated lenses associated with MFS and a preoperative corrected visual acuity (CVA) < or =20/40 based on the Early Treatment Diabetic Retinopathy Study chart...
August 2010: Ophthalmology
https://www.readbyqxmd.com/read/19305878/-results-of-an-experience-with-the-bentall-procedure
#7
Javier Gallego, R Ferreira, J Roque, N Guerra, M Gennari, C Serpa, S Mendes, M Mendes, R Lucero, A Lemos, R Pereira, A Nobre, J Cravino
OBJECTIVES: The authors report a retrospective study of patients who underwent a Bentall procedure in the Cardio-Thoracic Surgery Department of Hospital Santa Maria, Lisbon. MATERIAL AND METHODS: Data were obtained from 42 patients who underwent the Bentall procedure between 1991 and 2008. Different parameters were compared as well as the short and long term results. RESULTS: The median age was 58,5 years being 88% of patients of male gender...
October 2008: Revista Portuguesa de Cirurgia Cardio-torácica e Vascular
https://www.readbyqxmd.com/read/17722475/-new-therapeutic-targets-for-ace-inhibitors-and-angiotensin-receptor-blockers
#8
REVIEW
Paweł Petkow-Dimitrow
Angiotensin-converting enzyme inhibitors (ACE-I) and angiotensin receptor blockers (ARB) posses multiple beneficial effects such as cardioprotection, cerebroprotection, nephroprotection which provide opportunity to select the most suitable drug for the target vascular bed (e.g. coronary, or cerebral circulation). In some clinical settings, combined therapy ACE-I with ARB (double blockage of the renin-angiotensin-aldosteron system) may appear the most effective. These drugs (especially ARB) may successfully prevent atrial fibrillation and play a protective role in metabolic syndrome...
April 2007: Polskie Archiwum Medycyny Wewnętrznej
https://www.readbyqxmd.com/read/17133733/biochemistry-of-homocysteine-in-health-and-diseases
#9
REVIEW
S Ramakrishnan, K N Sulochana, S Lakshmi, R Selvi, N Angayarkanni
The amino acid homocysteine (Hcy), formed from methionine has profound importance in health and diseases. In normal circumstances, it is converted to cysteine and partly remethylated to methionine with the help of vit B12 and folate. However, when normal metabolism is disturbed, due to deficiency of cystathionine-beta-synthase, which requires vit B6 for activation, Hcy is accumulated in the blood with an increase of methionine, resulting into mental retardation (homocystinuria type I). A decrease of cysteine may cause eye diseases, due to decrease in the synthesis of glutathione (antioxidant)...
October 2006: Indian Journal of Biochemistry & Biophysics
https://www.readbyqxmd.com/read/16380460/role-of-fibrillin-1-in-hypertensive-and-diabetic-glomerular-disease
#10
Andrea Hartner, Liliana Schaefer, Markus Porst, Nada Cordasic, Anke Gabriel, Bernd Klanke, Dieter P Reinhardt, Karl F Hilgers
The microfibrillar protein fibrillin-1 is a component of the mesangial matrix. Defects in fibrillin-1 predisposes individuals to vascular damage in Marfan syndrome, but the role of fibrillin-1 in kidney disease is unknown. We hypothesized that fibrillin-1 is involved in hypertensive or diabetic glomerular disease. DOCA-salt hypertension or streptozotocin (STZ) diabetes led to a significant increase in glomerular fibrillin-1 deposition. To test the functional role of fibrillin-1, DOCA hypertension and STZ diabetes were induced in mice homozygous for a mutation leading to a fivefold lower expression of fibrillin-1 (mgR/mgR)...
June 2006: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/16275113/limited-role-of-aortic-size-in-the-genesis-of-acute-type-a-aortic-dissection
#11
Eugenio Neri, Lucio Barabesi, Dimitrios Buklas, Luca A Vricella, Antonio Benvenuti, Enrico Tucci, Carlo Sassi, Massimo Massetti
OBJECTIVE: Increased dimension of the aortic root and proximal aorta is considered a significant risk factor for catastrophic events that involve the ascending aorta. The objective of this study was to determine the possible correlation between pre-dissection aortic diameter and the occurrence of Stanford type A aortic dissection. METHODS: Samples of dissected ascending aortas were obtained from 220 patients at the time of their operation. Two groups were identified: patients with connective tissue disorders (Group 1, n=94) and those without (Group 2, n=126)...
December 2005: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/15111153/acute-type-b-aortic-dissection-in-elderly-patients-clinical-features-outcomes-and-simple-risk-stratification-rule
#12
COMPARATIVE STUDY
Rajendra H Mehta, Eduardo Bossone, Arturo Evangelista, Patrick T O'Gara, Dean E Smith, Jeanna V Cooper, Jae K Oh, James L Januzzi, Stuart Hutchison, Dan Gilon, Linda A Pape, Christoph A Nienaber, Eric M Isselbacher, Kim A Eagle et al.
BACKGROUND: The clinical features and outcomes of elderly patients with acute type B aortic dissection (ABAD) are less well known. Accordingly, we sought to evaluate the clinical features and outcomes and derive a simple risk stratification rule for elderly with ABAD. METHODS: We categorized 383 patients with ABAD enrolled in the International Registry of Acute Aortic Dissection into two strata (aged less than 70 years and aged 70 years or more) and compared their clinical features and in-hospital outcomes...
May 2004: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/11552376/-epidemiology-of-aortic-disease-aneurysm-dissection-occlusion
#13
REVIEW
B Steckmeier
The physiological infrarenal aortic diameter varies between 12.4 mm in women an 27.6 mm in men. As defined, an aneurysmatic dilatation begins with 29 mm. According to that, 9% of all people above the age of 65 are affected by an abdominal aortic aneurysm (AAA). Compared with the female sex, the male sex predominates at a rate of about 5:1. The disease is predominant in men of the white race. In black men, black and white women the incidence of AAA is identical. 38 to 50 percent of the AAA patients (patients) suffer from hypertension, 33 to 60% from coronary, 28% from cerebrovascular and 25% from peripheral occlusive disease...
August 2001: Der Radiologe
https://www.readbyqxmd.com/read/1442030/report-of-a-japanese-girl-with-marfan-syndrome-associated-with-insulin-dependent-diabetes-mellitus
#14
REVIEW
T Yamamoto, F Inoue, A Matsumura, A Kinugasa, T Sawada, S Hayashi, K Hamaoka
A 3 year old girl was admitted to hospital in an emaciated condition and with polydipsia in October 1974. Following the diagnosis of diabetes mellitus, she received treatment with insulin. On the first admission, a systolic murmur was noted at the apex of the heart. In 1981, the murmur was found to be continuous with a systolic click, and echocardiography demonstrated a mitral valve prolapse. In 1982, electrocardiography revealed left ventricular hypertrophy, and the patient's X-ray showed vertebral kyphoscoliosis...
October 1992: Acta Paediatrica Japonica; Overseas Edition
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