Background: Older persons with hip fractures remain at increased risk of subsequent hip fractures. However, little is known about the frequency and characteristics of persons who sustain a second hip fracture. Methods: Participants included 481 members of the Framingham Heart Study who sustained an initial hip fracture between April 1952 and December 31, 2003. Participants were followed up until a second hip fracture, death, dropout, or study completion. Age, sex, falls, stroke, dementia, residence, recent weight change, body mass index, and functional status were considered potential predictors of a second hip fracture. Results: During a median of 4.2 years of follow-up, 71 subjects (14.8%) experienced a second hip fracture. Following a first hip fracture, 2.5% of subjects experienced a second hip fracture within 1 year, and 8.2% of subjects (9.7% of women) experienced a second hip fracture within 5 years. One-year mortality following an ini

COQ4 mutations have recently been shown to cause a broad spectrum of mitochondrial disorders in association with CoQ10 deficiency. Herein, we report the clinical phenotype, in silico and biochemical analyses, and intervention for a novel c.370 G > A (p.G124S) COQ4 mutation in a Chinese family. This mutation is exclusively present in the East Asian population (allele frequency of~0.001). The homozygous mutation caused CoQ10 deficiency-associated Leigh syndrome with an onset at 1-2 months of age, presenting as respiratory distress, lactic acidosis, dystonia, seizures, failure to thrive, and detectable lesions in the midbrain and basal ganglia. No renal impairment was involved. The levels of CoQ10 and mitochondrial respiratory chain complex (C) II + III activity were clearly lower in cultured fibroblasts derived from the patient than in those from unaffected carriers; the decreased CII + III activity could be increased by CoQ10 treatment. Follow-up studies suggested that our patient benefitted from the oral supplementation of CoQ10, which allowed her to maintain a relatively stable health status. Based on the genetic testing, preimplantation and prenatal diagnoses were performed, confirming that the next offspring of this family was unaffected. Our cases expand the phenotypic spectrum of COQ4 mutations and the genotypic spectrum of Leigh syndrome.

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