Marfan syndrome database information unreliable for diagnoses

doi:10.1002/ajmg.a.37195

Cited by 2 publications

(1 citation statement)

References 2 publications

(2 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A recent study has shown de novo copy number variations (CNVs) in the genome are clinically relevant to CP ( 16 ). Furthermore, genes, such as KAK1 , AP4MI , or GAD1 , have been shown to play a role in up to 45% of CP cases ( 17 , 18 ).…”

Section: Etiology Of Cerebral Palsymentioning

confidence: 99%

Rodent Hypoxia–Ischemia Models for Cerebral Palsy Research: A Systematic Review

et al. 2016

View full text Add to dashboard Cite

Cerebral palsy (CP) is a complex multifactorial disorder, affecting approximately 2.5–3/1000 live term births, and up to 22/1000 prematurely born babies. CP results from injury to the developing brain incurred before, during, or after birth. The most common form of this condition, spastic CP, is primarily associated with injury to the cerebral cortex and subcortical white matter as well as the deep gray matter. The major etiological factors of spastic CP are hypoxia/ischemia (HI), occurring during the last third of pregnancy and around birth age. In addition, inflammation has been found to be an important factor contributing to brain injury, especially in term infants. Other factors, including genetics, are gaining importance. The classic Rice–Vannucci HI model (in which 7-day-old rat pups undergo unilateral ligation of the common carotid artery followed by exposure to 8% oxygen hypoxic air) is a model of neonatal stroke that has greatly contributed to CP research. In this model, brain damage resembles that observed in severe CP cases. This model, and its numerous adaptations, allows one to finely tune the injury parameters to mimic, and therefore study, many of the pathophysiological processes and conditions observed in human patients. Investigators can recreate the HI and inflammation, which cause brain damage and subsequent motor and cognitive deficits. This model further enables the examination of potential approaches to achieve neural repair and regeneration. In the present review, we compare and discuss the advantages, limitations, and the translational value for CP research of HI models of perinatal brain injury.

show abstract

Section: Etiology Of Cerebral Palsymentioning

confidence: 99%

Rodent Hypoxia–Ischemia Models for Cerebral Palsy Research: A Systematic Review

et al. 2016

View full text Add to dashboard Cite

show abstract

Marfan syndrome: current perspectives

Pepe¹,

Giusti²,

Sticchi³

et al. 2016

TACG

View full text Add to dashboard Cite

Marfan syndrome (MFS) is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, due to mutations in the FBN1 gene encoding fibrillin 1. It is an important protein of the extracellular matrix that contributes to the final structure of a microfibril. Few cases displaying an autosomal recessive transmission are reported in the world. The FBN1 gene, which is made of 66 exons, is located on chromosome 15q21.1. This review, after an introduction on the clinical manifestations that leads to the diagnosis of MFS, focuses on cardiovascular manifestations, pharmacological and surgical therapies of thoracic aortic aneurysm and/or dissection (TAAD), mechanisms underlying the progression of aneurysm or of acute dissection, and biomarkers associated with progression of TAADs. A Dutch group compared treatment with losartan, an angiotensin II receptor-1 blocker, vs no other additional treatment (COMPARE clinical trial). They observed that losartan reduces the aortic dilatation rate in patients with Marfan syndrome. Later on, they also reported that losartan exerts a beneficial effect on patients with Marfan syndrome carrying an FBN1 mutation that causes haploinsufficiency (quantitative mutation), while it has no significant effect on patients displaying dominant negative (qualitative) mutations. Moreover, a French group in a 3-year trial compared the administration of losartan vs placebo in patients with Marfan syndrome under treatment with beta-receptor blockers. They observed that losartan decreases blood pressure but has no effect on aortic diameter progression. Thus, beta-receptor blockers remain the gold standard therapy in patients with Marfan syndrome. Three potential biochemical markers are mentioned in this review: total homocysteine, serum transforming growth factor beta, and lysyl oxidase. Moreover, markers of oxidative stress measured in plasma, previously correlated with clinical features of Marfan syndrome, may be explored as potential biomarkers of clinical severity.

show abstract

Marfan syndrome database information unreliable for diagnoses

Cited by 2 publications

References 2 publications

Rodent Hypoxia–Ischemia Models for Cerebral Palsy Research: A Systematic Review

Rodent Hypoxia–Ischemia Models for Cerebral Palsy Research: A Systematic Review

Marfan syndrome: current perspectives

Contact Info

Product

Resources

About