Leprechaunism is an autosomal recessive disease characterized by intrauterine and postnatal growth restriction, loss of glucose homeostasis, and severe insulin resistance. This disease is caused by a failure of function of the insulin receptor and is lethal early in life. Here we report the prenatal diagnosis of leprechaunism in one consanguineous family, Atl-1, in which two homozygous-affected siblings died with leprechaunism. The mutation in their insulin receptor impaired insulin binding and altered receptor signalling. Prenatal diagnosis could not be accomplished using insulin binding to cultured amniocytes, but was possible using mutational analysis of the insulin receptor gene in DNA from amniotic cells. 相似文献
Objective: Suffering a stroke might lead to permanent cognitive and/or physical impairment. It has been shown that these impairments could have an impact on an individual's fitness to drive. In Sweden, as in many other countries, there are regulations on driving cessation post-stroke. Information on driving cessation should be given to all patients and noted in the journal. The present study sought to determine physician's compliance to driving regulations post-stroke as well as follow-up and gender aspects.
Method: A retrospective study of medical records on stroke patients was carried out. The study covered all of the medical records on stroke incidents (n = 342) during a year at a typical medium to large-sized hospital in Sweden.
Results: A journal entry on driving cessation post-stroke was missing in 81% of the medical records. Only 2% of the patients were scheduled for a follow-up meeting specifically concerning fitness to drive. Significantly more men than women had an entry on driving in the journal.
Conclusions: We conclude that the Swedish regulations on driving cessation post-stroke were not followed at the participating hospital. It is crucial that all stroke patients receive information on driving cessation because their condition might affect fitness to drive. Analysis of follow-up records showed that there was no consistent method for assessment of a patient's fitness to drive. There was also a gender difference in the material, which warrants further investigation. 相似文献
Abstract A study of the comparitlve distribution pattern of β‐ and γ‐isomers of hexachlorocyclohexane (HCH) in albino rat tissues as a function of duration of treatment at two dose levels revealed different accumulation patterns for the two isomers in tissues. In general, the accumulation pattern was found to be in the order: fat > kidney > lungs > liver > muscle > heart > spleen > brain > blood for β‐HCH and fat > brain > kidney > muscle > lungs > heart > spleen > liver > blood for γ‐HCH. The tissue accumulation of β‐isomer was always greater than that of γ‐isomer in any tissue except in brain. Brain β‐HCH residue levels were relatively lower than in many other tissues except blood, whereas brain γ‐HCH concentration was only next to fat. A higher dose or a longer period of treatment generally produced a more marked elevation of tissue residue levels in β‐HCH fed rats, but not in γ‐HCH treated animals. Food restriction subsequent to a period of exposure to dietary β‐ or γ‐HCH caused a mobilization of depot fat without drastic redistribution of the HCH residues stored in it. During food restriction, the residue levels in fat and muscle increased much. The residue levels in brain and other organs were not adversely affected during partial starvation. 相似文献