We report on 2 unusual cases of the campomelic syndrome, the first being a fetus in whom the diagnosis was suspected in the 18th week and confirmed sonographically at 20 weeks. The second case concerns a 5 year old 46, XY girl with an exceptional longevity and a relatively favorable evolution.
A family with hyperalphalipoproteinemia is described, being exceptional the longevity of some of their members. The proband, a 36 years-old woman with excellent health, showed total cholesterol levels of 6.77 mmol/l, HDL-cholesterol 3.00 mmol/l and apoprotein (apo) AI 2.4 g/l. HDL-cholesterol levels of her mother and two sisters were 1.86, 2.07 and 2.02 mmol/l, respectively. Their serum apo AI levels were 2.11, 2.32 and 2.30 g/l, respectively.
The British Journal of Psychiatry: The Journal of Mental Science
BACKGROUND: The mental status examination of an extreme case of longevity, J. C., aged 118 years and 9 months, is documented in order to further knowledge regarding profiles of morbidity in the extremely elderly. J. C. is presently considered to have the longest authenticated life-span in the history of the human species. METHOD: Neuropsychological tests were improvised taking into account the subject's severe perceptual deficits. The examination was carried out over a six-month period. A CT scan was also conducted.
Many years ago, Alex Comfort experimentally refuted Bidder's hypothesis that fish potentially were immortal. Later morphological and physiological studies, together with observations from fish populations in the wild, revealed that fish age in a way similar to that in other vertebrates. More recently, assessments of the age of fish have been revised, and have shown that some species live much longer than was estimated.
Born in Arles on February 21st 1875, Madame J. C. was the oldest registered human being. She died on August 4th 1997 at the age of 122 years, the record for longevity probably for a long moment. Based on this unique case and a review of the literature, the authors describe the mechanical, physiological and clinical aspects of normal cardiac ageing. The diseases of the elderly which accelerate the process of physiological ageing are then reviewed.
Four families highly clustered for extreme longevity are described here, representing the first report of clustering for this phenotype. Families such as these may prove to be helpful in the further understanding of the genetic contribution to achieving exceptional longevity.
Proceedings of the National Academy of Sciences of the United States of America
Substantial evidence supports the familial aggregation of exceptional longevity. The existence of rare families demonstrating clustering for this phenotype suggests that a genetic etiology may be an important component. Previous attempts at localizing loci predisposing for exceptional longevity have been limited to association studies of candidate gene polymorphisms. In this study, a genome-wide scan for such predisposing loci was conducted by using 308 individuals belonging to 137 sibships demonstrating exceptional longevity.
Okinawans, who have a different ethnicity and food cultural history to other Japanese nationals, and an exceptional longevity have been studied at home and as migrant groups in Hawaii and Brazil. Biomarkers for fish and soy intake and intervention studies indicate that these foods, along with seaweed and green vegetables are candidates for chronic non-communicable disease prevention.
There is a substantial distinction to be made between the genetics of aging and the genetics of exceptional longevity. Twin studies suggest that the average set of genetic variations facilitates the average human's ability to live well into their octogenarian years. Other studies indicate that taking full advantage of this average set results in spending the majority of those years in good health. However, many people counteract such genetic endowment with poor health habits, resulting in a substantially lower average life expectancy and relatively more time spent in poor health.