ETIMOLOGIA DA PALAVRA MARFAN SYNDROME
Named after Antoine Marfan (1858–1942), French paediatrician.
O QUE SIGNIFICA MARFAN SYNDROME EM INGLÊS
síndrome de Marfan
A síndrome de Marfan é uma desordem genética causada pelo misfolding da proteína fibrilina-1. Fibrilina-1 é codificada pelo gene FBN1. As pessoas com Marfan tendem a ser invulgarmente altas, com membros longos e dedos longos e finos. É nomeado em nome de Antoine Marfan, o pediatra francês que descreveu pela primeira vez a condição em 1896. O gene ligado à doença foi identificado pela primeira vez por Hal Dietz e Francesco Ramirez em 1991. A síndrome de Marfan é uma doença autossômica dominante, o que significa que as pessoas que herdam apenas Uma cópia do gene Marfan FBN1 de ambos os pais desenvolverá a síndrome de Marfan e poderá transmiti-la aos seus filhos. A síndrome de Marfan tem várias expressões variando de leve a grave: as complicações mais graves são defeitos das válvulas cardíacas e aorta. Além disso, pode afetar os pulmões, os olhos, o saco dural que circunda a medula espinhal, o esqueleto e o palato duro. A síndrome de Marfan é conhecida como distúrbio do tecido conjuntivo. A proteína Fibrillin-1 forma fibras no tecido conjuntivo.
definição de Marfan syndrome no dicionário inglês
A definição de síndrome de Marfan no dicionário é uma desordem do tecido conjuntivo que se caracteriza por alongamento anormal dos ossos e, muitas vezes, por deficiência visual.
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10 LIVROS EM INGLÊS RELACIONADOS COM «MARFAN SYNDROME»
Descubra o uso de
Marfan syndrome na seguinte seleção bibliográfica. Livros relacionados com
Marfan syndrome e pequenos extratos deles para contextualizar o seu uso na literatura.
1
Marfan Syndrome: A Primer For Clinicians And Scientists
Historical Introduction The Marfan Syndrome: From Clinical Delineation to Mutational Characterization, a Semiautobiographic Account VictorA.
Peter N. Robinson, Maurice Godfrey,
2004
2
The Case of the Telltale Toes:
Marfan Syndrome
The Case of the Telltale Toes unfolds the signs and symptoms of the mysterious genetic disorder known as Marfan Syndrome. In 1896 French pediatrician Antoine Marfan reported a five-year-old girl with ¿spidery toes¿ just like Hughes¿s.
3
Cardiovascular Aspects of
Marfan Syndrome
Cardiovascular Aspects of Marfan Syndrome presents the advances in understanding the cause and pathogenesis of Marfan Syndrome and its current specific surgical therapy.
Roland Hetzer, Petra Gehle, Jürgen Ennker,
2012
4
Hereditary Hearing Loss and Its Syndromes
Figure 8-46. Marfan syndrome. (A) Dolichostenomelia, arach- nodactyly. pectus
carinatum. (B) Arachnodactyly of feet. 2. Herrmann J et al: The association of a
hearing deficit with Larsen's syndrome. J OwlarynKol 10:45-48. 1981. 3. Horn KL
et ...
Robert J. Gorlin, Helga V. Toriello, Meyer Michael Cohen,
1995
5
Lovell and Winter's Pediatric Orthopaedics
Dural ectasia is common in individuals with Marfan syndrome, and seems to
increase in severity with age. Its severity is not related to the severity of other
clinical findings; for instance, there is no association between aortic dilatation
and dural ...
Wood W. Lovell, Robert B. Winter, Raymond T. Morrissy,
2006
6
Anesthesia for Genetic, Metabolic, and Dysmorphic Syndromes ...
Long fingers and toes are already apparent in this 6-month-old with Marfan
syndrome. presumably due to earlier airway closure from inadequate small
airway elastic tissue. Emphysema and bronchogenic cysts can develop.
Pulmonary blebs ...
Victor C. Baum, Jennifer E. O'Flaherty,
2007
7
Mosby's Pathology for Massage Therapists
Marfan syndrome affects approximately 1 in 10,000 persons. Death usually
occurs from heart failure caused by faulty heart valves or rupture of an aortic
aneurysm. Etiology Marfan syndrome is caused by a defective gene. In most
cases, it is ...
8
Clinical Genetics in Nursing Practice: Third Edition
Marfan syndrome is an autosomal dominant disorder that is extremely
pleiotrophic (multiple pheno- typic effects from a single gene). It is very variable in
expression. While many persons with Marfan syndrome are detected in
childhood or ...
9
Rubin's Pathology: Clinicopathologic Foundations of Medicine
Dominant. Traits. This discussion is limited to three of the most common and best-
studied entities that affect connective tissue: Marfan syndrome, Ehlers-Danlos
syndrome, and osteogenesis imperfecta. Even in these well-delineated disorders
, ...
Raphael Rubin, David S. Strayer, Emanuel Rubin,
2008
10
Essentials of Rubin's Pathology
Marfan syndrome is an autosomal dominant, inherited disorder of connective
tissue characterized by a variety of abnormalities in many organs, including the
heart, aorta, skeleton, eyes, and skin. One third of cases represent sporadic ...
Emanuel Rubin, Howard M. Reisner,
2009
10 NOTÍCIAS NAS QUAIS SE INCLUI O TERMO «MARFAN SYNDROME»
Conheça de que se fala nos meios de comunicação nacionais e internacionais e como se utiliza o termo
Marfan syndrome no contexto das seguintes notícias.
Northwestern Medicine and Ann & Robert H. Lurie Childrens …
More than 600 people with Marfan syndrome and related disorders will have an opportunity to meet leading Marfan syndrome researchers and ... «IT Business Net, jul 15»
Hundreds gather to remember popular Hereford DJ (From Hereford …
Ms Carnegie, who suffered from Marfan syndrome, fell ill on May 28 with chest pains, and was admitted to Hereford County Hospital on May 30 ... «Hereford Times, jul 15»
New drug helping people with Marfan syndrome live longer lives
ST. LOUIS Marfan syndrome is a genetic disorder that affects the body's connective tissue; these tissues hold all the body's cells and organs ... «WNDU-TV, jul 15»
Honorary NBA Draft Pick Isaiah Austin: 'God Wants Me To Share His …
Austin was diagnosed with Marfan Syndrome ending his career. ... in the 2014 NBA draft until diagnosed with Marfan Syndrome (a rare genetic ... «Christian Post, jul 15»
Brookfield woman fights on against rare disorder
Lisa's scoliosis and Marfan syndrome, a mitochondrial genetic disorder which causes a thin frame, may have contributed to her SMAS. «Brookfield Elm Grove Now, jul 15»
'World's ugliest woman' fights back and becomes one of world's …
Born with Marfan syndrome – a rare condition preventing her from accumulating fat – she never knew how different she was until she reached ... «International Business Times UK, jul 15»
Isaiah Austin talks about missing basketball, grateful for those who …
A surprise diagnosis of Marfan syndrome altered his career plans in the days leading up to the 2014 NBA draft. Austin admits he still hasn't ... «Waco Tribune-Herald, jul 15»
Isaiah Austin to sign new autobiography in Waco Friday
But his professional dreams were tragically cut short just days before the draft when he was diagnosed with Marfan syndrome, a rare genetic ... «Waco Tribune-Herald, jul 15»
Gary Kanski
Gary suffered from a condition called Marfan syndrome. This condition affects the connective tissues in the body. Gary endured five open-heart ... «Pinedale Roundup, jul 15»
Wimbledon Athletics Saves Young Athlete's Life with Marfan …
... death for a California high school athlete diagnosed with Marfan syndrome. ... as well as an echocardiogram to diagnose Marfan syndrome. «Benzinga, jul 15»