摘要:

Routine ophthalmoscopy and fundoscopy of 673 individuals revealed 42 whose irides failed to dilate to a clinically useful degree within 25 to 30 min after the administration of drops of 1% mydracil. These individuals occurred with different frequency among the Aymara, Mestizo, and non‐Aymara groups which made up the sample of examinees. The phenomenon was most common among the Aymara, less common among the Mestizos, and least common among the non‐Aymara. Distribution of affected individuals within the three groups suggests that the trait is inheri

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00915.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Cholinesterase deficiency was detected in a young girl following an episode of post‐anesthesia apnea. Subsequently, plasma and serum cholinesterase levels and dibucaine numbers were determined on blood samples from 56 members of her extended family. Including the proband, three individuals were identified with severe cholinesterase deficiency and 12 were found to have mild abnormalities. The occurrence of two genetic variants regulating cholinesterase production, the “silent” gene and the atypical enzyme, is postulated to account for the unusual pattern of inheritance in this family. Screening family members of confirmed cases is essential to prevent the potentially fatal consequences of this hereditary dis

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00916.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

The apoprotein composition of the main lipoprotein fractions (VLDL, LDL‐1, LDL‐2 and HDL) was studied initially in 15 patients with Broad‐β disease. Analytical isoelectric focusing of urea‐soluble apo‐VLDL and apo LDL‐1 demonstrated a variant pattern of the polymorphic Apoprotein E with a deficient Apo E‐III band in all patients.The Apo E‐III deficiency pattern was seen in only six out of 304 hyperlipidaemic controls. These six Apo E‐III deficient controls had characteristic signs of Broad+ disease, and thus represented patients not previously recognized as having the disorder.The Apo E focusing patterns were constant on repeated examinations and were stable under different metabolic conditions. The data show that Apo E‐III deficiency in VLDL is a specific qualitative marker for Broad‐β disease, allowing an unequivocal diagnosis that had not been possible previously. Indirect evidence suggests that Apo E‐III deficiency is the basic lipoprotein abnormality underlying the fam

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00917.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

The karyotype of a 7‐month‐old child had 46 chromosomes, including five abnormal chromosomes in cultured lymphocytes. G‐banding indicated the presence of reciprocal translocation products between chromosomes 1 and 7 and between chromosomes 4 and 15. A probable third translocation involved the same chromosome 4p arm and 12q. All meta‐phases showed these changes. C‐band markers and the presence of reciprocal exchange products indicated that the chromosome changes occurred in the zygote or a post‐zygotic cell of the child. The mother developed malignant melanoma while carrying the child but did not receive therapy before its birth. The suggestion is made that an undetected common agent was involved in the aetiology of the mother's tumour and the clastogenic change to the child's

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00918.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

The Bloom's Syndrome Registry comprises the 71 individuals in whom this rare genetic disorder has been recognized between the time it was described in 1954 and the end of 1976. The major objective of the Registry is surveillance for cancer in both affected homozygotes and heterozygotes. Of the 61 homozygotes known to have had Bloom's syndrome before cancer was diagnosed and for whom follow‐up has been possible, one in nine has developed cancer. Thirteen cancers have been diagnosed, in 12 individuals. The mean age in 1976 of the living individuals with the syndrome was 16.4 years. The mean age at the time cancer was diagnosed was 20 years. Cancers have been of multiple types and have affected various site

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00919.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

This report describes a family in which two different types of acrocephalosyndactyly (ACS) were clinically identified. The proband presented with the classic stigmata of Pfeiffer syndrome, while her cousin was considered to be a typical case of Apert syndrome. Seven other family members also have unusually shaped heads and the facial appearance reminiscent of Crouzon disease.Observations made in this family and from previous reports in the literature, we feel there is substantial reason to re‐evaluate the ACS classification and to consider that the Apert and Pfeiffer types of ACS may be one and the sam

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00920.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

Three patients with Stickler syndrome are reported. Two of the patients were found among the 26 children attending a special pre‐school for the visually impaired. One of the patients had bilateral choanal atresia which may represent an extreme example of the mid‐facial hypoplasia commonly seen in these patients. It appears that Stickler syndrome may not be as rare as previously thou

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00921.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

摘要:

In tissue culture of muscle from five normal foetuses and four male foetuses at risk for Duchenne muscular dystrophy, no differences were found with regard to the ease with which cultures could be established and maintained, or in gross morphology or rate of growth and differentiation in culture. Yet before culture, muscle histology was clearly abnormal in at least one of the at‐risk foetuses. The identification of the particular conditions of culture which prevent the full expression of the dystrophic process might be profitably pursued as a possible first step to finding a treatmen

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00922.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00923.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1977.tb00924.x

出版商:Blackwell Publishing Ltd    

年代:1977

数据来源: WILEY