scholarly journals REHABILITASI MEDIK PADA SINDROM MARFAN

2014 ◽  
Vol 6 (3) ◽  
Author(s):  
Drahma Kusmarwaty ◽  
Theresia I. Mogi
Keyword(s):  
Marfan Syndrome ◽  
Clinical Manifestations ◽  
Joint Hypermobility ◽  
Functional Training ◽  
Physical Strength ◽  
Organ Systems ◽  
The Family ◽  
Fibrillin 1 ◽  
Musculoskeletal Systems ◽  
Dominant Condition

Abstract: Marfan Syndrome (MS) is an autosomal dominant condition of the connective tissue that involves the ocular, cardiovascular and musculoskeletal systems. MS is caused by mutations in the fibrillin-1 gene, leading to joint ligaments flaccidity, joint hypermobility and overgrowth of the long bones. The diagnosis of MS is confirmed by using the Ghent nosology,through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. The management of MS done with collaboration of team genetic clinic, cardiovascular, orthopedic, eye, and rehabilitation. The aims of rehabilitation of MS patients are to increase pulmonary function, improve exercise endurance, increases bone density, physical strength, prevent scoliosis, education about functional training on activity daily living.Keywords: Marfan syndrome, management, team rehabilitationAbstrak: Sindrom Marfan (SM) adalah autosom dominan dari jaringan ikat yang melibatkan ocular, kardiovaskular dan sistem musculoskeletal. Penyebab SM adalah mutasi dari gen fibrillin-1, yang menyebabkan flaccid ligamen sendi, hipermobilitas sendi dan overgrowth dari tulang panjang. Diagnosis dari SM dengan Ghent nosology, melalui penilaian secara menyeluruh berdasarkan kombinasi dari manifestasi klinik mayor dan minor pada sistem organ dan riwayat keluarga. Penanganan SM dilakukan dengan kolaborasi tim antara lain klinik genetik, kardiovaskular, orthopedi, mata, dan tim rehabilitasi. Tujuan dari rehabilitasi pada SM adalah meningkatkan fungsi paru, meningkatkan ketahanan latihan, meningkatkan densitas tulang, ketahanan fisik, mencegah skoliosis, edukasi mengenai functional training pada aktivitas kehidupan sehari-hari.Kata kunci: sindrom Marfan, penanganan, tim rehabilitasi

scholarly journals Down syndrome with co-occurring Marfan syndrome

2020 ◽  
Vol 13 (9) ◽  
pp. e235988
Author(s):  
Miao Wei ◽  
Natasha Lepore ◽  
Kelli Paulsen ◽  
Jonathan D Santoro
Keyword(s):  
Down Syndrome ◽  
Medical Care ◽  
Marfan Syndrome ◽  
Trisomy 21 ◽  
Genetic Disorders ◽  
Close Monitoring ◽  
Genetic Syndromes ◽  
Organ Systems ◽  
Fibrillin 1 ◽  
Musculoskeletal Systems

Down syndrome (DS) and Marfan syndrome (MFS) are two unique genetic disorders that share limited phenotypic overlap. There are very few reported cases in the existing literature on overlapping DS and MFS. Although these two disorders are phenotypically unique, features present in these cases are variable, resulting in mixed and dominant expressions of particular features. We present the first adolescent case of trisomy 21 associated DS and fibrillin-1 gene associated MFS in the literature who had a height at 90th percentile for an 11-year old boy and discuss the implications of this case in terms of future medical care when these two genetic syndromes are present in the same individual. Understanding of certain features of the ‘non-dominating’ syndrome is crucial for clinicians to recognise when DS co-occurs with MFS. Close monitoring of the cardiovascular, ophthalmologic and musculoskeletal systems is recommended if both syndromes are diagnosed given that both can be independently associated with disorders in these organ systems.

scholarly journals Marfan Syndrome with CRHD

2020 ◽  
Vol 5 (04) ◽  
pp. 322-326
Author(s):  
Shahood Ajaz Kakroo
Keyword(s):  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Similar Case ◽  
Extensive Search ◽  
Organ Systems ◽  
The Family ◽  
Fibrillin 1 ◽  
History Of ◽  
Mode Of Inheritance ◽  
Rheumatic Heart

AbstractMarfan syndrome (MFS) is an inheritable disorder caused by mutation of fibrillin-1 gene. It is the most common disorder among disorders of connective tissue. Its mode of inheritance is autosomal dominant. The reported prevalence of this disorder is one in three thousand (3000) to five (5000) thousand individuals. It presents with varied manifestation and different range of severity. The organ systems most commonly affected by this disorder include eyes, cardiovascular system, and musculoskeletal system.The other systems which may be affected include respiratory system, skin, and central nervous system. It is diagnosed with the help of revised Ghent score which includes a set of various diagnostic criteria which need to be fulfilled. MFS in this patient was diagnosed after the fulfillment of the revised Ghent score criteria, which included a positive history of MFS in the family and a systemic score of 8.In this case report, we are reporting a case of MFS which is unusual and remarkable in the sense that it is associated with chronic rheumatic heart disease (CRHD), and not the cardiovascular features which are usually present in cases of MFS. We tried to find a similar case if ever reported previously and, after extensive search, we could find only few cases13 14 15 of MFS which were associated with CRHD.

scholarly journals MANAGEMENT OF YOUNG PATIENTS WITH MARFAN SYNDROME

2019 ◽  
Vol 22 (6) ◽  
pp. 395-400
Author(s):  
Ekaterina B. Luneva ◽  
E. G. Malev
Keyword(s):  
Marfan Syndrome ◽  
Beta Blockers ◽  
Angiotensin Receptor Blockers ◽  
Relevant Literature ◽  
Age Groups ◽  
Young Patients ◽  
Clinical Manifestations ◽  
Wide Range ◽  
Receptor Blockers ◽  
Musculoskeletal Systems

Marfan syndrome is a hereditary, autosomal disease with a relatively high prevalence in the general population. Numerous manifestations of Marfan syndrome are expressed in a wide range of disorders involving cardiovascular, ocular and musculoskeletal systems. The article describes the principles of management of the syndrome in children and adolescents. Clinical manifestations of the disease are evaluated in young patients of different age groups. There are presented data on the main medicines used in the therapy of Marfan syndrome, such as beta-blockers, angiotensin receptor blockers, statins. Relevant literature was searched using the databases PubMed, MedLine, Scopus, Web of Science. The article will be interesting to a wide range of specialists: pediatricians, cardiologists, general practitioners and other specialties

scholarly journals TGF-beta-dependent mechanisms of patho genesis of Marfan syndrome and related disorders

2009 ◽  
Vol 15 (2) ◽  
pp. 223-226
Author(s):  
A. S. Rudoy
Keyword(s):  
Connective Tissue ◽  
Marfan Syndrome ◽  
Joint Hypermobility ◽  
Autosomal Dominant Disorder ◽  
Molecular Physiology ◽  
Joint Hypermobility Syndrome ◽  
Major Life ◽  
Aortic Aneurysm And Dissection ◽  
Growth Factor Signalling ◽  
Fibrillin 1

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.

scholarly journals Overview of Marfan Syndrome: knowns and unknowns

2015 ◽  
Vol 1 (1) ◽  
pp. 51-66
Author(s):  
Pratiek N Matkar ◽  
Hao H Chen ◽  
Howard Leong-Poi ◽  
Krishna Kumar Singh
Keyword(s):  
Marfan Syndrome ◽  
Drug Targets ◽  
Transforming Growth Factor ◽  
Surgical Techniques ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Transforming Growth Factor Β ◽  
The Body ◽  
Fbn1 Gene ◽  
Fibrillin 1

Marfan syndrome (MFS) is a relatively rare disease of the connective tissue that affects several organs of the body. Cardiovascular abnormalities such as aortic root dilatation and mitral valve prolapse are the two main life-threatening complications associated with MFS. The complete pathogenesis of MFS is yet unclear. However, fibrillin-1 (FBN1) gene mutations and mutations in the transforming growth factor-β (TGFβ) signaling pathway are the leading causes of this lethal disease. Detailed assessment based on several major and minor clinical manifestations has led to the evolution of different nosologies for MFS diagnoses with reliable accuracies. Nevertheless, heterogeneous disease advancement and overlapping clinical outcomes make MFS diagnosis challenging. Rapid strides in research and surgical avenues over the last two decades have improved the life expectancy and the quality of life of MFS patients remarkably. More specific diagnostic criteria have been established, novel therapeutic targets for pharmacotherapy have been identified and validated, and newer surgical techniques have been tested. Current research efforts are focusing on the identification of prognostic biomarkers, gene modifiers, drug targets, and surgical procedures. This review aims to provide a brief overview of these aspects associated with MFS. 

PRECLINICAL STUDY OF THE VETERINARY DRUGS TOXICITY

1970 ◽  
pp. 61-64
Author(s):  
E. K. Rakhmatullin ◽  
O. D. Sklyarov
Keyword(s):  
Lethal Dose ◽  
Clinical Manifestations ◽  
Preclinical Study ◽  
Veterinary Drugs ◽  
Toxic Effects ◽  
Laboratory Animals ◽  
Therapeutic Effects ◽  
Significant Information ◽  
Important Indicator ◽  
Organ Systems

Preclinical study of the drugs toxicity was analysed it allows predicting the safety of veterinary drugs in laboratory animals. The fundamental normative instruments in the field of preclinical study of drugs for veterinary medicine and animal husbandry are Order of the Ministry of Agriculture of the Russian Federation dated 06.03.2018 N 101 and GOST 33044-2014 Principles of Good Laboratory Practice. An important indicator of the preclinical study of the veterinary drugs is the determination (calculation) of median lethal dose value (lethal dose for half of the animals tested) or concentration (LD50 or LC50). Existing methods for determining this indicator make it possible at the initial study stage to determine the degree and class the drug of toxicity. Studying the symptoms of intoxication in the analysis of pharmacological substances one obtains significant information about the nature of the action of the future drug. The clinical manifestations of intoxication with damage to various organ systems are presented. As criteria for assessing the toxic effects of veterinary drugs it is recommended to determine LD50, cumulation coefficient, latitude index of therapeutic effects, dose level of toxic effects in the experiment which allows predicting the nature and degree of toxic effects of the drug even at the stage of preclinical veterinary drugs study.

THE CLINICAL, LABORATORY MANIFESTATIONS AND HISTOPATHOLOGY IN NEPHROTIC PATIENTS WITH LUPUS NEPHRITIS

2018 ◽  
pp. 52-58
Author(s):  
Le Thuan Nguyen ◽  
Bui Bao Hoang
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Nephritis ◽  
Lupus Erythematosus ◽  
Clinical Laboratory ◽  
Activity Index ◽  
Clinical Manifestations ◽  
Systemic Lupus ◽  
Cross Sectional ◽  
Organ Systems ◽  
Tubulointerstitial Lesions

Introduction: Systemic lupus erythematosus (SLE) is an autoimmune disease involving multiple organ systems. The kidney appears to be the most commonly affected organ, especially nephrotic is a serious kidney injury. The clinical, laboratory manifestations and histopathology are very useful for diagnosis, provide the means of predicting prognosis and guiding therapy in nephrotic patients with lupus nephritis. Methods: Descriptive cross-sectional study of nephrotic patients with lupus treated in the Department of Nephrology Trung Vuong Hospital and Cho Ray Hospital between May/2014 and May/2017. Renal histopathological lesions were classified according to International Society of Nephrology/Renal Pathology Society - ISN/RPS ’s 2003. The clinical, laboratory manifestations and histopathological features were described. Results: Of 32 LN with nephritic range proteinuria cases studied, 93.7% were women. The 3 most common clinical manifestations were edema (93.8%), hypertension (96.8%) and pallor (68.9%), musculoskeletal manifestions (46.9%), malar rash (40.6%). There was significant rise in laboratory and immunological manifestions with hematuria (78.1%), Hb < 12g/dL (93.5%), increased Cholesterol (100%), and Triglycerid (87.5%), Creatinine > 1.4 mg/dL (87.5%), increased BUN 71.9%, ANA (+) 93.8%, Anti Ds DNA(+) 96.9%, low C3: 96.9%, low C4: 84.4%. The most various and severe features were noted in class IV with active tubulointerstitial lesions and high activity index. Conclusion: Lupus nephritis with nephrotic range proteinuria has the more severity of histopathological feature and the more severity of the more systemic organ involvements and laboratory disorders were noted. Key words: Systemic lupus, erythematosus (SLE) lupus nepphritis, clinical

Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome

2015 ◽  
Vol 113 (03) ◽  
pp. 668-670 ◽  
Author(s):  
Philipp von Hundelshausen ◽  
Konrad Oexle ◽  
Kiril Bidzhekov ◽  
Martin Schmitt ◽  
Michael Hristov ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
De Novo ◽  
Fibrillin 1
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