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61.
Ataxia-telangiectasia (AT) is an uncommon genetic disorder characterized by cerebellar ataxia, oculocutaneous telangiectasias, progressive immunodeficiency, and a predisposition to lymphoid malignancy. The genetic defect in AT predisposes not only to malignancy but also to severe toxicity from anti-neoplastic therapies. It is important to consider the diagnosis of AT in any child with a lymphoid malignancy at a younger than expected age, or who has a pre-existing ataxia, to anticipate unusually severe toxicities from the antineoplastic therapy, to avoid confusing the development of ataxia with toxicity from therapy, and to provide appropriate genetic counseling. We describe two children at a young age with a lymphoid malignancy diagnosed before the diagnosis of AT. One patient had severe toxicity from his chemotherapy, requiring truncation of the planned course of treatment. The other child was able to tolerate his entire planned course of therapy, but ataxia that was initially interpreted as toxicity from chemotherapy rather than as a sign of his AT developed. Lymphoid malignancy may be the presenting sign of AT. Making this diagnosis may influence therapy of the malignancy. The neurologic manifestations of the disease can be misinterpreted as toxicities of the chemotherapy, and diagnosis of AT allows appropriate genetic counseling for the family. 相似文献
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Roni Peleg Yan Press Maya Asher Tatyana Pugachev Hadas Glicensztain Mila Lederman Aya Biderman 《BMC health services research》2008,8(1):36
Background
The elderly population consumes a large share of medical resources in the western world. A significant portion of the expense is related to hospitalizations. 相似文献63.
Molecular analysis of PKU in Ireland 总被引:1,自引:0,他引:1
CA O'Neill RC Eisensmith DT Croke ER Naughten SF Cahalane SLC Woo 《Acta paediatrica (Oslo, Norway : 1992)》1994,83(S407):43-44
Classical phenylketonuria (PKU: McKusick No. 261600) is caused by mutations occurring at the phenylalanine hydroxylase (PAH) locus on chromosome 12 and has a prevalence in Ireland of 1 in 4500. We examined 304 independent alleles from 350 patients for the presence of six mutations and have characterized VNTR alleles within the minisatellite region 3' to the PAH gene in patients carrying the most prevalent mutation. R408W was the most common mutation found, with a relative frequency of 42%. All other mutations had relative frequencies of <10%. VNTR analysis showed that the R408W mutation is associated with the VNTR-8 allele in the Irish population, indicating that R408W is associated with RFLP haplotype 1. This differs from that reported from eastern Europe where R408W is associated with RFLP haplotype 2/VNTR-3; an observation which has led several groups to propose a Balto-Slavic origin for this mutation. These results support the hypothesis of a second, independent founding event for the R408W mutation on an RFLP haplotype 1 VNTR-8 chromsome background in the Irish/Celtic population. 相似文献
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Alicia M. Neu Howard M. Lederman Barbara A. Fivush 《Pediatric nephrology (Berlin, Germany)》1993,7(4):455-456
Chronic peritoneal dialysis (CPD) is a common form of renal replacement therapy in children. Recent studies suggest that immunological abnormalities, in particular hypogammaglobulinemia, may develop in children and infants on peritoneal dialysis. We report an infant maintained on CPD who died of gram-negative sepsis. At post-mortem examination, he was noted to have severe panhypogamma-globulinemia. 相似文献
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Dan G. Albert M. D. Martin E. Lederman M. D. 《Documenta ophthalmologica. Advances in ophthalmology》1973,34(1):27-36
Patients with greater esotropia when fixing at a near point than when fixing at distance should be considered as esotropes with an abnormal distance-near relationship. The term abnormal accommodative convergence should be reserved for patients whose ocular alignment is influenced by manipulating accommodation at a constant distance.The present methods of therapy, i.e. glasses, bifocals, anticholinesterases, and surgery are probably no more effective in normalizing the distance-near relationship over a period of time than is time alone.Recession of the medial recti has some effect on the ocular alignment and distance-near relationship and in the presence of fusion does not result in exotropia.Long term bifocal wearers who are nearly straight when looking down through the bifocals, sometimes exhibit esotropia when looking over the usual bifocal height at near fixation even with the necessary add in place. This strabismus may be related to factors other than accommodation.Central (bifoveal) fusion is rarely encountered in esotropia with abnormal distance-near relationship. 相似文献