Charcot-Marie-Tooth disease

A two-year, large-scale trial of ascorbic acid (vitamin C) in people with type 1A Charcot-Marie-Tooth disease (CMT1A) conducted in Italy and the United Kingdom has found the substance had no significant effect on the disease compared with a placebo. Ascorbic acid was taken orally at 1.5 grams per day in this study. An ongoing U.S.-based trial (now closed to recruitment) is testing ascorbic acid in CMT1A at a dosage of 4 grams per day for two years.

Congenital myasthenic syndromes

A multinational team of scientists has identified mutations in the gene for glutamine-fructose-6-phosphate transaminase 1 (GFPT1) as responsible for some forms of a congenital myasthenic syndrome (CMS).

Annie Kennedy

Applying for Social Security benefits can be tedious and frustrating, often resulting in the first application being denied and initiating a long appeal process.

Mia Hanley of Cranston, R.I., looks pretty much like any 4-year-old preschooler. She’s a normal height and weight, walks well and has good language skills. In fact, when she started preschool at age 3, her fine motor skills were so good that she didn’t qualify for special services in that area.

Looking at Mia, most people would never suspect she spends every other Friday at Hasbro Children’s Hospital in Providence getting an intravenous infusion of a lifesaving medication, or that some of her nourishment comes through a feeding tube in her abdomen.

Mark Tarnopolsky, a professor of pediatrics and medicine at McMaster University in Hamilton, Ontario, remembers clearly a patient he saw more than a decade ago, when he first began specializing in metabolism and nutrition.

The patient was an 8-year-old boy who had rapidly become weak and eventually almost completely paralyzed after exercising. His muscles were breaking down, spilling a protein known as myoglobin into the blood and threatening the survival of the boy’s kidneys, if not of the child himself.

It seems as if everybody wants information about you these days. Try to get that rebate the salesman promised on your new computer, and the company wants to know how old you are, how much money you make and whether you went to college.

Phone surveys want to know what you think of your congressional representative, whether you’re planning to sell your house and what radio stations you listen to.

*Note: In the print edition of Quest, this article was titled "Rounding Up the Usual -- and Not So Usual -- Suspects."

The scene is familiar to everyone who watches crime dramas. The safe has been opened, and the hotel guests' jewelry and other valuables are missing. What happened, and when, and who's responsible?