Analysis of refractive & visual development from an infant screening programme

1997 ◽  
Vol 17 (6) ◽  
pp. 541-542
Author(s):  
A Grounds
2020 ◽  
Vol 41 (7) ◽  
pp. 1677-1683
Author(s):  
Gian Luca Vita ◽  
Giuseppe Vita

Abstract Newborn screening (NBS) is an essential, preventive public health programme for early identification of disorders whose early treatment can lead to significant reduction in morbidity and mortality. NBS for Duchenne muscular dystrophy (DMD) has been a controversial matter for many years, because of false positives, the lack of effective drugs and the need of more data about screening efficacy. The still high diagnostic delay of DMD and the current availability of drugs such as steroid, ataluren, eteplirsen, golodirsen and forthcoming new drugs, improving the clinical conditions if early started, make appropriate to begin a concrete discussion between stakeholders to identify best practice for DMD screening. A two-step system CK/DNA screening programme is presented to be performed in male infants aged between 6 months and 42 months involving more than 30,000 male infants. Five to eight DMD subjects are believed to be diagnosed. The pilot project would give the opportunity to test in a small population the feasibility of an infant screening programme, which in the near future could be applicable to an entire country.


2005 ◽  
Vol 47 (4) ◽  
pp. 276-280 ◽  
Author(s):  
Ashima Madan ◽  
James E Jan ◽  
William V Good

2020 ◽  
Author(s):  
MH Núñez-Rodriguez ◽  
PD Redondo ◽  
F Riu ◽  
M Cimavilla ◽  
RS Ocaña ◽  
...  

2016 ◽  
Vol 25 (1) ◽  
pp. 71-77 ◽  
Author(s):  
Ashley D. Bond ◽  
Michael D. Burkitt ◽  
David Sawbridge ◽  
Bernard M. Corfe ◽  
Chris S. Probert

Background & Aims: Colorectal cancer screening programmes that target detection and excision of adenomatous colonic polyps have been shown to reduce colorectal cancer related mortality. Many screening programmes include an initial faecal occult blood test (FOBt) prior to colonoscopy. To refine the selection of patients for colonoscopy other faecal-based diagnostic tools have been proposed, including tumour M2-pyruvate kinase (tM2-PK). To determine whether tM2-PK quantification may have a role in diverse settings we have assessed the assay in a cohort of patients derived from both the England bowel cancer screening programme (BCSP) and symptomatic individuals presenting to secondary care. Method. Patients undergoing colonoscopy provided faecal samples prior to bowel preparation. Faecal tM2-PK concentrations were measured by ELISA. Sensitivity, specificity, positive predictive value, negative predictive value and ROC analyses were calculated. Results. Ninety-six patients returned faecal samples: 50 of these with adenomas and 7 with cancer. Median age was 68. Median faecal tM2-PK concentration was 3.8 U/mL for individuals without neoplastic findings at colonoscopy, 7.7 U/mL in those with adenomas and 24.4 U/mL in subjects with colorectal cancer (both, p=0.01). ROC analysis demonstrated an AUROC of 0.66 (sensitivity 72.4%, specificity 48.7%, positive predictive value 67.7%, negative predictive value 36.7%). Amongst BCSP patients with a prior positive FOBt faecal tM2-PK was more abundant (median 6.4 U/mL, p=0.03) and its diagnostic accuracy was greater (AUROC 0.82). Conclusion. Our findings confirm that faecal tM2-PK ELISA may have utility as an adjunct to FOBt in a screening context, but do not support its use in symptomatic patients. Abbreviations: BCSP: Bowel cancer screening programme; EMR: Endoscopic mucosal resection; FAP: Familial adenomatous polyposis; FOBt: Faecal occult blood testing; NHS: National Health Service; tM2-PK: tumour M2-pyruvate kinase.


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