[Complex screening of family members at risk for familial adenomatous polyposis].

Abstract:

:151 members of 10 affected families with FAP have been registered at the authors' regional polyposis registry, among them 51 FAP patients were verified histologically. The disorder is autosomal dominant thus the chance for the inheritance of the mutated allele is fifty percent in the offspring of an affected patient. Because of the high risk the registration and regular control of family members is recommended. They can be divided into high risk and low risk group based on presymptomatic tests. The examination of retina pigmentepithel was the only possibility for presymptomatic diagnosis earlier. After localization and identification of APC gene responsible for the disease molecular genetic methods have been introduced for presymptomatic diagnosis. The authors performed presymptomatic tests based on ophthalmologic and molecular genetic methods among family members at risk. Ophthalmologic examination was done in 53 while molecular genetic investigation in 54 cases. All the results of endoscopic, ophthalmological and molecular genetic examinations were available in 35 persons, among them 19 FAP have been found. Ophthalmological examination were informative in 33 out 35 cases (unequivocal positive or negative) while results of molecular genetic methods and sigmoidoscopy were correlated in every case. Authors stress the significance of complex screening of affected families with FAP in the prevention of colorectal cancer and extracolonic malignant processes.

journal_name

Orv Hetil

journal_title

Orvosi hetilap

authors

Kristóf T,Tóth T,Ujszászy L,Juhász L,Korompai K,Minik K,Papp Z

subject

Has Abstract

pub_date

1997-12-14 00:00:00

pages

3159-64

issue

50

eissn

0030-6002

issn

1788-6120

journal_volume

138

pub_type

杂志文章,评审
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    doi:

    authors: Baltás B,Bajusz H,Bende J,Vattay P,Lázár G,Vangel R,Onodi J,Kiss ZF,Takács T

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    doi:

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  • [A rare form of ion channel gene mutation identified as underlying cause of generalized epilepsy].

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  • [Effects of piracetam on the cognitive functions verified by electrophysiologic methods].

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    authors: Kondákor I

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  • [The role of environmental factors in managing labour stress].

    abstract:INTRODUCTION:Emotional, cognitive and behavioural aspects of birth and labour stress are strongly associated with the underlying physiological processes. AIM:To study the factors of physical security and social support, the administration of synthetic oxytocin, and how they relate to perceived stress during childbirth...

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  • [Isolation of free DNA from archived serum samples suitable for molecular genetic studies].

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  • [Smoldering myeloma].

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  • [The role of radical surgical approach in the treatment of benign multinodular goitre depending on anatomical variations of the recurrent laryngeal nerve].

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  • [Retrospective examination of the Hungarian breast and cervical cancer screening programmes according to mortality and morbidity data].

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  • [Experience with only preoperative radiotherapy of non-metastatic rectal tumours].

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  • [Antioxidant effect of vitamin E in experimental hyperlipidemia].

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  • [Evaluation of ambulatory antibiotic use in Hungary using drug-specific quality indicators].

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