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Biomedical subjects

H Poulsen

Publications and source records attributed to H Poulsen.

At least 73 records · Page 4Linked to original sources
PubMed1981

Peri- and paracentric inversions in chromosome 12: prenatal diagnosis and family study.

Three different types of chromosome 12 inversion were seen in 15 individuals out of 44 individuals examined in one 8 generation family. Type 1: a pericentric inversion inv(12) (p112; q131) was found in 7 individuals and twice at prenatal diagnosis. Type 2: a paracentric inversion inv(12) (p123; p131) was seen in two individuals. Two individuals carried both inversion chromosomes, namely type 1 and type 2. The two inversion chromosomes were transmitted from each of the parents. Type 3: a double pericentric and paracentric inversion (type 3) inv(12) (p123; p131) (p112; q131) was observed in the daughter of one of the carriers of type 1 and 2 inversions and again at prenatal diagnosis in her son. The double inversion most likely arose through crossing-over in between the two inversion loops. A balanced translocation t(7; 13) and the inversion type 1 was observed in one individual, who transmitted the translocation only to an offspring. The frequency of inversions in amniotic fluid cells observed in our laboratory was 1.9 per cent. The clinical implications of these findings are discussed.

Adult↗
PubMed1981

X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers.

A large family is reported in which mental retardation associated with the fragile site at Xq28 was found. Three normal males seemed to have transmitted the trait through their daughters to affected grandchildren. A total of 19 family members were investigated cytogenetically. Mentally retarded males showed macroorchidism and the fragile X. Three mentally retarded females were found, with the fragile X in a high percentage of cells; in contrast, the obligate carriers showed no or only few cells with the fragile X.

Adolescent↗
PubMed1981

Familial X-linked mental retardation and fragile X chromosomes in two Swedish families.

X-linked mental retardation (MR) associated with a fragile X chromosome was found in two Swedish families. The fragile X chromosome was demonstrated in 5/5 boys with mental retardation. Clinical data on four of these boys are presented. In one of the families, the mental retardation was associated with macro-orchidism, large hands and large, folded ears. In the other family, macro-orchidism was not seen, possible because the boys were younger. Fragile site X chromosomes were also seen in three obligate carriers. A summary of earlier published cases of X-linked MR associated with the fragile X chromosome is given.

Abnormalities, Multiple↗
PubMed1981

Clinical relevance of restrictive morphological criteria for the diagnosis of cirrhosis in liver biopsies.

Material obtained by needle biopsy of the liver from 532 patients with cirrhosis who had previously been examined has been re-evaluated using new and more restrictive histological criteria for the diagnosis of cirrhosis. The material was divided into four main groups: (A) cirrhosis, 287 biopsies; (B) probably cirrhosis, 101 biopsies; (C) compatible with but not diagnostic for cirrhosis, 89 biopsies; and (D) probably not cirrhosis, 11 biopsies. Group E consisted of 44 cases where no or insufficient material was available. The survival curves of the groups were significantly (P less than 0.05) different, with group D having the best survival followed by C, B and A. Clinical and laboratory manifestations of cirrhosis (more than five spider naevi, presence of ascites, daily alcohol intake of more than 50 g) were found significantly (P less than 0.05) more often among patients from group A, followed by patients from groups B, C and D. It is concluded that the more restrictive histological criteria for the diagnosis of cirrhosis in liver biopsies have clinical relevance, due to the prognostic and therapeutic implications of the diagnosis. The study also underlines the importance of specifying the criteria used when studies of patients with cirrhosis are reported.

Biopsy↗
PubMed1981

5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation.

5-Fluoro-2'-deoxyuridine (FUdR) was found to be highly effective in inducing the heritable fragile site on Xq28 associated with mental retardation. Lymphocytes from two affected males manifested the fragile site in 30 to 40% of the mitoses when grown in the presence of FUdR. This observation suggests that depletion of the dTMP pool via thymidylate synthetase inhibition is responsible for the expression of the heritable fragile site on Xq28.

Cells, Cultured↗
PubMed1981

Aspects of the natural history of gastrointestinal bleeding in cirrhosis and the effect of prednisone.

The natural history of gastrointestinal bleeding in cirrhosis has been studied using prospectively collected data of 532 patients included in a randomized clinical trial with a regular follow-up of up to 12 yr. Of the total 199 patients who experienced gastrointestinal bleeding, 95 (48%) bled from esophageal or gastric varices, 67 (34%) bled from peptic ulcer or gastritis, and 37 (18%) had either insufficient evidence of the source (33) or mixed sources (4). In the total group of patients the cumulative percentage of patients in whom varices had been demonstrated of patients in whom varices had been demonstrated by radiography increased from 12 to 90 in 10 yr, while that of bleeding from varices increased from 7 to 40. In 104 patients who bled for the first time during the trial period (trial bleeding patients) the median number of bleeding episodes was one (range 1-8). In these patients the fatality from bleeding from varices was 82%. The risk of rebleeding from varices was 81%, and 4 yr after the first bleeding the cumulative survival had decreased to less than 10%. Rebleeding was significantly less frequent and survival significantly higher in patients bleeding from sources other than varices. Prednisone reduced the occurrence rate of varices, bleeding from varices, and death from bleeding varices in nonalcoholic females without ascites, 40% of whom fulfilled the histologic criteria of chronic active hepatitis. Prednisone significantly increased the occurrence rate of varices inpatient with ascites and of bleeding from varices in alcoholic patients. Prednisone significantly increased the occurrence rate of peptic ulcer in males and in patients without chronic active hepatitis.

Clinical Trials as Topic↗
PubMed1980

Non-disjunction in trisomy 21: study of chromosomal heteromorphisms in 110 families.

QM variants on chromosome 21 and silver staining of NOR regions were applied in the study of non-disjunction in 110 families from different parts of Denmark. In 76% of the families the study was informative. Paternal failures were observed in 11% on Funen as compared 23.5% on Zealand. In one family, crossing-over on the short arms of chromosome 21 in the mother and mitotic non-disjunction of chromosome 21 was observed. Maternal first meiotic error predominates in both high maternal and low maternal age. Also in paternal non-disjunction failures of first meiotic division predominate. Two maternally and one paternally originated cases of de novo translocations were observed.

Adolescent↗
PubMed1980

Clinical course of cutaneous malignant melanoma related to histopathological criteria of primary tumour.

By using cumulative survival curves the influences of histological criteria of the primary tumour on the prognosis of 204 patients with clinical stage I malignant melanoma were evaluated. Tumour thickness, level of invasion in the dermis plus ulceration appear to have greatest influence on prognosis. Other factors influencing prognosis include that histogenetic type of melanoma, malignant cell invasion into blood vessels as well as intralesional transformation. On the other hand, it appears from our material that the number of mitoses, the type of malignant cell, regression phenomena and the amount of the inflammatory cell infiltrate have no significant influence on prognosis.

Adult↗
PubMed1980

Acute non-A, non-B hepatitis--clinical, epidemiological and histological characteristics.

Among 73 consecutive patients with biopsy documented acute non-toxic hepatitis, half of the patients (49%) had acute type B hepatitis, while 27 patients (37%) had acute type A infection. One patient had a significant rise in antibodies against cytomegalovirus. The remaining 10 patients (14%) fulfilled the criteria of hepatitis type non-A, non-B. The main type of exposure for hepatitis A was visit to endemic hepatitis areas (41%), and for type B it was drug addiction (46%). Half of the patients with hepatitis non-A, non-B had no known hepatitis exposure while some had visited endemic hepatitis areas or were drug addicts. The patients with non-A, non-B hepatitis had significantly less biochemical changes as compared to the patients with hepatitis B. In contrast, the histological findings showed the greatest activity in the biopsies from patients with hepatitis B and non-A, non-B. Follow-up liver biopsies in half of the patients with non-A, non-B hepatitis showed no signs of chronic active liver disease. It is concluded that hepatitis type non-A, non-B is a significant problem in Denmark.

Acute Disease↗
PubMed1979

Chronic hepatitis B infection in male homosexuals.

Ten cases of hepatitis B virus infection were identified among asymptomatic male homosexuals. These patients shared a number of characteristics: A subclinical origin and course of infection; Persistence of HGsAg for periods exceeding six to 25 months; Persistent GPT elevation of two to five times upper normal limit; Morphological changes in the liver with portal and parenchymal inflammation (chronic persistent hepatitis, six cases; non-specific reactive hepatitis, 2 cases; cirrhosis and acute hepatitis with signs of chronicity, one case each). HBeAg was found in six cases, anti-HBe in none. These results indicate that screening for hepatitis B should be performed whenever these individuals come under medical attention in order to detect asymptomatic chronic liver diseases and to detect these silent vectors of an infection that presently shows an increased frequency among homosexuals.

Carrier State↗
PubMed1978

Turner syndrome with rare karyotypes.

Five cases of Turner syndrome with rare karyotypes are presented. The spectrum of chromosomal findings ranges from a female karyotype with a deletion of the short arm of one X chromosome, to a normal male karyotype. The following karyotypes were found: one case with 46,XXp--; two cases with 45,X/46,X,r(X); one case with 45,X/47,XYY; and one case with 46,XY.

Adolescent↗