The story they missed

Pitfalls in genetic testing: the story of missed SCN1A mutations

BACKGROUND Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and N...

Anaerobic infections of the urinary tract: are they being missed?

Routine anaerobic culture of urine identified the urinary tract as the primary focus of sepsis in a postoperative patient with Bacteroides fragilis septicaemia. Specimens of urine from six other symptomatic patients grew > 10(8) cfu/litre of a Bacteroides species in pure growth. The significance of these isolates is discussed. Multipoint technology and the availability of anaerobic work station...

Early Research on Fermentation — a Story of Missed Opportunities*

In many reports, the beginning of research on fermentation and on the role of yeast is given as 1810, when J. L. Gay-Lussac (1778-1850), on the basis of detailed analyses, specified ethanol and CO2 as the principal products of the decomposition of sugar. However, the equation, C6H12O6 ! 2C2H5OH + 2CO2 is an ex post facto formulation; his data did not fit the equation, nor were such notations us...

Economic institutions mattEr , But thEy arE not thE Full story

Numbers Don't Lie, but Do They Tell the Whole Story?

N ewly appointed Secretary of the U.S. Department of Health and Human Services, Kathleen Sebelius, recently reaffirmed that reducing social disparities in diabetes is a national priority (1). Lower educational attainment has been strongly linked to higher diabetes prevalence and worse diabetes control. In California, for example, diabetes is much more common among those with a 9th grade educati...