Pitfalls in genetic testing

Rapidly improving technology has allowed better, quicker, and cheaper evaluation of genetic abnormalities, including genetic analysis, which can be utilized in diagnosis and treatment decisions. However, despite the great promise of genetic testing, there remain limitations that are important for clinicians to understand. In this volume of The Journal, Wojcik et al describe a case where initial genetic testing for a child with phenotypic early onset Marfan Syndrome was negative. Ultimately, genome sequencing revealed a deletion that had been previously missed.
Source: The Journal of Pediatrics - Category: Pediatrics Authors: Tags: The Editors' Perspectives Source Type: research

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ConclusionsThis study broadens the mutation spectrum of FBN1, providing a full update of the molecular basis of MFS in Italy.
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research
Authors: Micarelli A, Viziano A, Lanzillotta A, Giorgino FM, Pisano C, Ruvolo G, Alessandrini M Abstract BACKGROUND: Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder affecting virtually every organ. Sleep disturbances, associated to high collapsibility in upper airways, are common in MFS; daytime sleepiness could lead to reduction in attention and motor coordination, with detrimental effects on balance. OBJECTIVE: To evaluate otoneurological function in MFS patients, compared to healthy subjects, and to investigate possible correlations with sleep deprivation extent. METHODS: Fo...
Source: Journal of Vestibular Research: Equilibrium and Orientation - Category: Neuroscience Tags: J Vestib Res Source Type: research
ConclusionA survey of SDB in a sample of persons with MFS reveals not only a high burden of SDB but also that conventional screening instruments have utility if adapted appropriately. Future studies should validate the utility of these screening tools given concerns that SDB may contribute to progression of aortic pathology in MFS.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Conclusions: Our results shows that screws may guarantee a better correction of the deformities. Level of Evidence: III
Source: Journal of Craniovertebral Junction and Spine - Category: Orthopaedics Authors: Source Type: research
Study Design. Retrospective cohort study. Objective. Evaluate the trends in management and inpatient outcomes in patients with syndromic scoliosis undergoing spinal deformity correction. Summary of Background Data. Syndromic scoliosis (SS) refers to scoliosis that is most commonly associated with systemic disease including Ehler Danhlos syndrome (EDS), Marfan syndrome (MF), Down syndrome (DS), Achondroplasia (AP), and Prader-Willi syndrome (PWS). Limited data exist evaluating hospital outcomes in patients with SS undergoing spinal deformity correction. Methods. The Kids’ Inpatient Database (KIDS) was queri...
Source: Spine - Category: Orthopaedics Tags: EPIDEMIOLOGY Source Type: research
ConclusionsThe most frequent causes of cSAH in our series were cerebral amyloid angiopathy, ischaemic stroke, and vasculitis. This type of haemorrhage has a worse prognosis than other non-aneurysmal cSAH. There are numerous possible causes, and prognosis depends on the aetiology. In elderly patients, intracranial haemorrhage is frequently associated with cognitive impairment.ResumenIntroducciónLas hemorragias subaracnoideas corticales (HSAc) tienen numerosas etiologías. No hay estudios prospectivos que indiquen su evolución a largo plazo. El objetivo de este trabajo es describir las característi...
Source: Neurologia - Category: Neurology Source Type: research
ConclusionsThroughout pregnancy, AAD is quite rare but fatal, especially in Marfan and Loeys –Dietz syndromes, while isolated bicuspid aortic valve is not a risk factor. Even in Marfan syndrome, pathogenesis and evolution of the disease are still unclear. Occurrence of dissection also during puerperium indicates the need for continuous counselling and aortic size monitoring in women at‐ risk.
Source: Journal of Cardiac Surgery - Category: Cardiovascular & Thoracic Surgery Authors: Tags: REVIEW ARTICLE Source Type: research
In conclusion, compared with western patients with AD, Chinese patients have distinct characteristics and more attention should be paid to the young and older patients because of their high long-term mortality and recurrence rate. PMID: 31666449 [PubMed - as supplied by publisher]
Source: International Heart Journal - Category: Cardiology Tags: Int Heart J Source Type: research
Conclusion: To our knowledge, this is the first case of Marfan syndrome with chronic aortic dissection undergoing thrombolysis for acute ischemic stroke with a near-complete recovery of neurological deficit and favorable long-term outcome.
Source: The Neurologist - Category: Neurology Tags: Case Report/Case Series Source Type: research
Publication date: Available online 31 October 2019Source: Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseaseAuthor(s): Patrícia Nolasco, Carolina Gonçalves Fernandes, João Carlos Ribeiro-Silva, Percillia V.S. Oliveira, Mariana Sacrini, Isis Vasconcelos de Brito, Tiphany Coralie De Bessa, Lygia V. Pereira, Leonardo Y. Tanaka, Adriano Alencar, Francisco Rafael Martins LaurindoAbstractMechanisms whereby fibrillin-1 mutations determine thoracic aorta aneurysms/dissections (TAAD) in Marfan Syndrome (MFS) are unclear. Most aortic aneurysms evolve from mechanosignaling deregulation, converging t...
Source: Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease - Category: Molecular Biology Source Type: research
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