The changing natural history of spinal muscular atrophy type 1.

The changing natural history of spinal muscular atrophy type 1. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

The changing natural history of spinal muscular atrophy type 1. Abstract Text:

M Oskoui,G Levy,C J Garland,J M Gray,J O'Hagen,D C De Vivo,P Kaufmann,M Oskoui,G Levy,C J Garland,J M Gray,J O'Hagen,D C De Vivo,P Kaufmann,

BACKGROUND: Noninvasive ventilation has become increasingly available to spinal muscular atrophy (SMA) patients since the early 1990 s. This is expected to have improved survival for SMA type 1 patients. OBJECTIVE: To assess whether there has been a change in survival in patients with SMA type 1 between 1980 and 2006. METHODS: We used deidentified, family-reported data from participants in the International Spinal Muscular Atrophy Patient Registry and obtained additional clinical information through a mail-in questionnaire. One hundred forty-three patients with SMA type 1 were included in the analysis. Survival of patients born in 1995-2006 (n = 78) was compared with that of patients born in 1980-1994 (n = 65), using the Kaplan-Meier method and Cox proportional hazards models with age at death as the outcome. RESULTS: Patients born in 1995 though 2006 had significantly increased survival compared with those born in 1980-1994 (log-rank test, p < 0.001). In a Cox model, patients born in 1995-2006 had a 70% reduction in the risk of death compared with those born in 1980-1994 (hazard ratio [HR] 0.3, 95% CI 0.2-0.5, p < 0.001) over a mean follow-up of 49.9 months (SD 61.1, median 22.0). However, when controlling for demographic and clinical care variables, year of birth was no longer significantly associated with age at death (HR 1.0, 95% CI 0.6-1.8, p = 0.9), whereas ventilation for more than 16 h/d, use of a mechanical insufflation-exsufflation device, and gastrostomy tube feeding showed a significant effect in reducing the risk of death. CONCLUSION: Survival in spinal muscular atrophy type 1 patients has increased in recent years, in relation to the growing trend toward more proactive clinical care.

The changing natural history of spinal muscular atrophy type 1. Publishing Authors By Initials

M Oskoui,G Levy,CJ Garland,JM Gray,J O'Hagen,DC De Vivo,P Kaufmann,M Oskoui,G Levy,CJ Garland,JM Gray,J O'Hagen,DC De Vivo,P Kaufmann,

For similar abstracts research abstracts see: abstracts research

PUBMED ID PMID:

MEDLINE DATE:

The changing natural history of spinal muscular atrophy type 1. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Neurology

VOLUME: 69

Page Numbers: 1931-6

Journal Abbreviation:

ISSN: 1526-632X

DAY: 13

MONTH: Nov

YEAR: 2007

The changing natural history of spinal muscular atrophy type 1. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 401060

The changing natural history of spinal muscular atrophy type 1. Keywords Mesh Terms:

KEYWORDS:

MESH TERMS:

Chemical & Substance for Abstract: The changing natural history of spinal muscular atrophy type 1. Information

Substance Name:

Registry Number:

Grant and Affiliation Information for The changing natural history of spinal muscular atrophy type 1.

AFFILIATION: Department of Neurology, Columbia University, New York, NY, USA.

Country: United States

AGENCY: United States NCRR

GRANT: 1 UL1 RR024156-01

ACRONYM: RR

MEDLINETA: Neurology

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

The changing natural history of spinal muscular atrophy type 1 Related Publications

• Absolute quantification of myocardial blood flow with 13N-ammonia and 3-dimensional PET.
• Accuracy of 64-slice CT angiography for the detection of functionally relevant coronary stenoses as assessed with myocardial perfusion SPECT.
• Added value of coronary artery calcium score as an adjunct to gated SPECT for the evaluation of coronary artery disease in an intermediate-risk population.
• Apoptosis in the treatment of cancer: a promise kept?
• Autistic-spectrum disorders in Down syndrome: further delineation and distinction from other behavioral abnormalities.
• Caviomorph placentation as a model for trophoblast invasion.
• Dangerous entanglements.
• Epibatidine alkaloid chemistry: 5. Domino-Heck reactions of azabicyclic and tricyclic systems.
• Exploring functional genomics for the development of novel intervention strategies against tuberculosis.
• Expression of membrane-type 5 matrix metalloproteinase in human endometrium and endometriosis.
• Febrile ulceronecrotic lymphomatoid papulosis.
• Hearing facial identities.
• In search of induction and latency periods: space-time interaction accounting for residential mobility, risk factors and covariates.
• Inhibition of mitochondrial respiration as a source of adaphostin-induced reactive oxygen species and cytotoxicity.
• Initiating the uninitiated: replication of damaged DNA and carcinogenesis.
• Mcl-1 as a buffer for proapoptotic Bcl-2 family members during TRAIL-induced apoptosis: a mechanistic basis for sorafenib (Bay 43-9006)-induced TRAIL sensitization.
• Persistence of peri-neural granulomas after successful treatment of leprosy.
• Pollakisuria in a dwarf goat due to pathologic enlargement of the uterus.
• Regional IFNgamma expression is insufficient for efficacious control of food-borne bacterial pathogens at the gut epithelial barrier.
• Role of NF2 haploinsufficiency in NF2-associated polyneuropathy.
• Social approach and autistic behavior in children with fragile X syndrome.
• The changing natural history of spinal muscular atrophy type 1.
• The human Tim/Tipin complex coordinates an Intra-S checkpoint response to UV that slows replication fork displacement.
• Tuberculosis and AIDS - a devilish liaison.
• [Cutaneous botryomycosis : A rarely diagnosed bacterial infection of the skin.]
• [Herd problem: udder health--a retrospective study of farms with udder health problems assessed by the Swiss Bovine Health Service (BHS) from 1999 to 2004]
• [In Process Citation]
• [Orthostatic intolerance and syncope]
• [Postoperative pyoderma gangrenosum of Cullen.]
• [The most common dysautonomias]