Marfan Syndrome—Diagnosis and Management

https://www.labmed.theclinics.com/article/S0272-2712(07)00113-8/pdf

Multi-Database Mining

A generic minimization random allocation and blinding system on web

The articles in this special issue demonstrate how machine learning is used in the life sciences on a wide variety of medicinal problems and data.

Machine learning in the life sciences

Background: Marfan syndrome (MFS) is the most common inherited disorder of connective tissue affecting multiple organ systems. The most life-threatening and life-shortening complication is aortic dissection. Without surgery, life expectancy of MFS patients is reduced to approximately 32 years. Early identification and appropriate multidisciplinary medical cooperation is essential.
Conclusion: Proper follow up, therapy and timely surgical repair lead to an almost normal lifespan in affected individuals.

/pdf/multidisciplinary-approach-to-a-marfan-syndrome-patient-with-xf7fuq53vc.pdf

Multidisciplinary approach to a Marfan syndrome patient with emphasis on cardiovascular complications.

A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations

When the genetic test for the Huntington’s disease (HD) HTT expansion first became available almost 30 years ago, only 1% of patients tested negative. Since then, the test has become more accessible and the HD phenotype has expanded. More patients are being tested overall, and more negative tests are being received. These patients are deemed “HD phenocopy syndromes” (HDPC). In this study we established a current estimate for the prevalence of these patients. We also surveyed HD clinician experts on what would make them consider an HD test and compared both HD and HDPC patients to these expectations to decide whether they could be distinguished clinically; this proved impossible even when comparing symptom patterns. We re-analysed existing gene panel data for likely and potentially deleterious variants. Furthermore, we determined principles to prioritise patients for whole-genome sequencing (WGS). It was used to probe a 50 patient strong subcohort of HD phenocopy syndromes for known causes of HD-like and other neurodegenerative disease, identifying one ATXN1 expansion using ExpansionHunter®. This was a small genetic substudy and therefore unsurprisingly no other known deleterious variants could be identified as in these cryptic understudied syndromes. Novel variants in known genes and variants in genes not yet linked to neurodegeneration may play an outsized role.

Huntington’s disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration

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A bioinformatics framework for genotype-phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations

Huntington’s disease phenocopy syndromes revisited: a clinical comparison and next-generation sequencing exploration