摘要:

Low density lipoprotein (LDL) receptor activity determined as association or degradation of125I‐LDL at 37oC, was measured in cultured skin fibroblasts from 48 elderly, independent subjects (84–95 years old). Data concerning these subjects were compared with those from a reference group of 27 younger, healthy subjects (5–64 years old) and 23 heterozygotes for familial hypercholesterolemia (9–67 years old). The median (10th‐90th percentile) association and degradation value for the older subjects were 294 (172–535) ng125I‐LDL/mg protein/6h and 191 (99–376) ng125I‐LDL/mg protein/6h, respectively. These values did not differ significantly from the corresponding values in the normal subjects (296 (60–491) ng,25I‐LDL/mg protein/6h and 171 (99–275) ng125I‐LDL/mg protein/6h, respectively). Thus, maximal LDL receptor activity in fibroblasts from the older subjects seems to be comparable to that of younger, healthy controls. However, the elderly subjects had markedly higher values for total serum cholesterol and LDL cholesterol than the normal controls. There was a significant increase in LDL receptor activity with age in the normal controls. Such an increase was not found in heterozygotes for fami

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00228.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Glucosylceramide and glucosylsphingosine isolated from spleen, liver and brain were quantitated and characterized in two unrelated patients with Gaucher disease, neither of whom had clinical or neuropathologic evidence of neuronal involvement. Visceral glucosylceramide accumulation did not differ in the two patients. Hepatic glucosylsphingosine content was 2‐fold greater in a young severely affected 3‐year‐old American Black patient compared to that in a 56‐year‐old Ashkenazi Jewish patient. In contrast, significant differences in glycosphingolipid content and composition were observed in the brains of these two cases. Cerebral and cerebellar cortical glucosylceramide accumulated to a greater extent (3‐fold) in the severely affected 3‐year‐old patient compared to that in the older case. The compositions of the acyl and sphingosyl base residues of glucosylceramide in the cerebral and cerebellar cortices from the Ashkenazi Jewish patient were similar to those in normal individuals. In comparison, the gray matter glucosylceramide in the severely affected patient had increased percentages of stearic acid (18:0) and eicosasphingenine (d20:1), suggesting that the accumulated substrate was derived from the brain ganglioside pool. Glucosylsphingosine was found in large amounts only in cerebral and cerebellar cortices from the severely affected patient. The glycolipid content and composition in this patient was similar to that found in the Norrbottnian (Type 3) form of Gaucher disease. The differences in glucosylceramide acyl and sphingosyl base composition in gray matter from the severely affected patient and that in the Ashkenazi Jewish patient suggested that the accumulated substrates were metabolized differently by the residual enzymes in each case. Since both glucosylceramide and glucosylsphingosine are substrates of the normal enzyme, the data suggested that the allelic mutations of acid β‐glucosidase can differentially alter the catabolism of these substrates and result in the different phenotypes

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00229.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

The cytogenetic findings in 20 experimental and 80 diagnostic cases of first trimester trophoblast biopsy are presented. All samples were obtained between the 8th and 13th week of gestation with the direct vision, trans‐cervical technique. Except when fetal sexing because of X‐linked disease was the issue, long‐term culture with in situ preparation was the method routinely employed in processing the biopsies for cytogenetic analysis. In 78 of the 80 clinical cases and in all reported experimental cases we were successful in establishing a karyotype from the sampled tissue. Unbalanced karyotypes were found in two experimental and six clinical cases. Tetraploidy was found in one clinical case, but was not confirmed in subsequently sampled amniotic fluid cells. In another clinical case, we were unable to confirm in the aborted placenta the trisomy 18 found in the trophoblast biopsy. In the rest of the induced abortions in the clinical series, the karyotype arrived at prenatally has been confirmed, and the 27 babies so far born have been healthy and with phenotypic sex corresponding to the prenatal findings. Six women have miscarried after sampling; in one of these cases the fetus had the karyotype 47,XX

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00230.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

The apoE polymorphism was studied by two‐dimensional gel electrophoresis in serum samples from 62 male subjects with multifactorial hypercholesterolemia and from 63 normal subjects. The apoE‐4 isoform was significantly more frequent (p<0.02) among the hypercholesterolemic subjects than among the normocholesterolemic contr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00231.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

The effect of folic acid intake on the frequency of fragile X positive cells and some behavioural characteristics were evaluated in 5 boys and 4 adult males with the fragile X syndrome. The expression of fragile X was nullified in 6 and decreased in 3 of the 9 patients. Behavioural and motor ability were considered to have improved in 4 of the 5 boys but not in the 4 adults with fragile X syndrome.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00232.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

For the detection of the carrier state of X‐linked hypohidrotic ectodermal dysplasia, sweat pore counts on fingertips or palms have been used in the past. The results obtained, however, were sometimes difficult to interpret. We here describe a more reliable method, using the entire back as a test area. We provide evidence that the distribution of sweat pores in carriers is not simply patchy. In four heterozygous women we were able to demonstrate a linear distribution of hypohidrotic areas. This pattern followed the lines of Blaschko, forming a typical V‐shape over the spine. Apparently, these lines reflect the dorsoventral outgrowth of two functionally different populations of cells during early embryogene

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00233.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Two English families with the X‐linked form (Type V) of the Ehlers‐Danlos syndrome (EDS) who were investigated almost 20 years ago have been re‐studied. In one family, the potentially heterozygous sister of 3 affected brothers had born two sons, of whom one has EDS. The 3 brothers had all procreated, producing a total of 2 sons and 3 daughters, all of whom are clinically normal. These pedigree data provide further evidence to support the syndromic identity and X‐linked mode of inheritance of this form of the EDS.In the second family, two affected brothers had both procreated; one had produced three normal offspring, while the other had a son with soft extensible skin and a daughter with articular hypermobility. The syndromic status of this kindred is uncertain.Serum copper and ceruloplasmin concentrations in affected males and obligate carrier females in both families were normal. Cytogenetic investigations, including high resolution banding, yielded normal

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00234.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

Glycogenosis type II (Pompe's disease) has been diagnosed using cultured amniotic cells for several years. In this paper, we present three prenatal diagnoses based on chorionic villi biopsy in three families at risk for Pompe's disease juvenile form: a normal fetus that was diagnosed and confirmed by enzymatic assay on amniotic cells; two affected fetuses that were diagnosed and confirmed on post‐abortion fetal tissues. In one case a residual acid a‐glucosidase activity was found; we concluded that the residual activity was due to maternal contamination. Prenatal diagnosis of Pompe's disease is therefore possible using chorionic villi bio

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00235.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

A total of 5,007 Kuwaitis were ascertained to study the incidence of consanguineous marriages during 1983. The rate of consanguineous mating was found to be 54.3% with estimated population incidence rates 52.9 to 55.7%. First cousin marriages were the most frequent type. The average inbreeding coefficient was 0.0219 which could be considered high.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00236.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

We describe a family with translocation (8; 13) (p21;q22), in which both unbalanced products of adjacent‐1 segregation occurred. Two members of the family have partial trisomy 8p with partial monosomy 13q; two others have partial monosomy 8p with partial trisomy 13q. The latter are both phenotypically normal, which is a highly unusual observation. One of these is, in addition, a carrier of a de novo balanced translocation between chromosomes 2 and 19. The risk for unbalanced progeny is discusse

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1985.tb00237.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY