What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Servicesʼ Advisory Committee on Heritable Disorders in Newborns and Children

2011 ◽  
Vol 13 (10) ◽  
pp. 861-865 ◽  
Author(s):  
Cynthia F. Hinton ◽  
Lisa Feuchtbaum ◽  
Christopher A. Kus ◽  
Alex R. Kemper ◽  
Susan A. Berry ◽  
...  
2010 ◽  
Vol 12 ◽  
pp. S267-S268 ◽  
Author(s):  
Susan A. Berry ◽  
Michele A. Lloyd-Puryear ◽  
Michael S. Watson

2010 ◽  
Vol 12 ◽  
pp. S220-S227 ◽  
Author(s):  
Inderneel Sahai ◽  
Roger B. Eaton ◽  
Jaime E. Hale ◽  
Eleanor A. Mulcahy ◽  
Anne Marie Comeau

2011 ◽  
Vol 115 (1) ◽  
pp. 124-129 ◽  
Author(s):  
Robert D. Ecker ◽  
Lisa P. Mulligan ◽  
Michael Dirks ◽  
Randy S. Bell ◽  
Meryl A. Severson ◽  
...  

Object There are no published long-term data for patients with penetrating head injury treated with bilateral supratentorial craniectomy, or supra- and infratentorial craniectomy. The authors report their experience with 33 patients treated with bilateral or bicompartmental craniectomy from the ongoing conflicts in Iraq and Afghanistan. Methods An exploratory analysis of Glasgow Outcome Scale (GOS) scores at 6 months in 33 patients was performed. Follow-up lasting a median of more than 2 years was performed in 30 (91%) of these patients. The association of GOS score with categorical variables was explored using the Wilcoxon rank-sum test or Kruskal-Wallis analysis of variance. The Spearman correlation coefficient was used for ordinal/continuous data. To provide a clinically meaningful format to present GOS scores with categorical variables, patients with GOS scores of 1–3 were categorized as having a poor outcome and those with scores of 4 and 5 as having a good outcome. This analysis does not include the patients who died in theater or in Germany who underwent bilateral decompressive craniectomy because those figures have not been released due to security concerns. Results All patients were men with a median age of 24 years (range 19–46 years) and a median initial Glasgow Coma Scale (GCS) score of 5 (range 3–14). At 6 months, 9 characteristics were statistically significant: focus of the initial injury, systemic infection, initial GCS score, initial GCS score excluding patients with a GCS score of 3, GCS score on arrival to the US, GCS score on dismissal from the medical center, Injury Severity Score, and patients with cerebrovascular injury. Six factors were significant at long-term follow-up: focus of initial injury, systemic infection, initial GCS score excluding patients with a GCS score of 3, GCS score on arrival to the US, and GCS score on dismissal from the medical center. At long-term follow-up, 7 (23%) of 30 patients had died, 5 (17%) of 30 had a GOS score of 2 or 3, and 18 (60%) of 30 had a GOS score of 4 or 5. Conclusions In this selected group of patients who underwent bilateral or bicompartmental craniectomy, 60% are independent at long-term follow-up. Patients with bifrontal injury fared best. Systemic infection and cerebrovascular injury corresponded with a worse outcome.


2011 ◽  
Vol 13 (10) ◽  
pp. 881-886 ◽  
Author(s):  
Ying Wang ◽  
Michele Caggana ◽  
Marilyn Sango-Jordan ◽  
Mingzeng Sun ◽  
Charlotte M. Druschel

2021 ◽  
Vol 5 (20) ◽  
pp. 4313-4313
Author(s):  
Valder R. Arruda

Abstract The prospect of a clinical strategy using an adeno-associated virus (AAV) vector for expression of therapeutic levels of factor VIII (FVIII) has been highly desirable. This was initially anticipated by promising data from clinical studies on AAV5-FVIII in men with severe hemophilia A. However, long-term follow-up showed a unique efficacy concern on the sustainability and durability derived from a continuous decline in the FVIII transgene levels starting 1 year after vector injection through year 5. Additional follow-up of early-phase studies and outcomes of an ongoing phase 3 study will likely provide evidence on the feasibility of this approach. Here, the potential underlying mechanisms of the FVIII declining levels, together with the revision of several unique early and late onset findings, are discussed. The lack of long-term preclinical studies in large animal models prevents the firm conclusion that FVIII levels decline was unexpected. It is possible that the combination of vector manufacturing platform and dose, accompanied with ectopic expression of supraphysiologic levels of FVIII at short-term follow-up, may all contribute to the sustainability and durability of the transgene levels. Notably, vector readministration to further improve the FVIII levels is not feasible at this time. Thus, the need of a one-and-done AAV strategy to achieve sustain FVIII levels of expression is sine qua non to impact favorably the disease phenotype.


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