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Biomedical subjects

R J Bleker

Publications and source records attributed to R J Bleker.

5 recordsLinked to original sources
PubMed1997

Glomus tumours and genomic imprinting: influence of inheritance along the paternal or maternal line.

Two new families with glomus tumours and two additions to earlier publications are presented. The pattern of inheritance is autosomal dominant. Familial glomus tumours are inherited almost exclusively via the paternal line, a finding inconsistent with autosomal dominant transmission. This can be explained by genomic imprinting. The maternally derived gene is inactivated during female oogenesis and can be reactivated only during spermatogenesis. Two different loci have been assigned, one to a 5 cM region of chromosome 11q13.1 and one to 11q22.3-q23.3. Genomic imprinting has already been found for the distal locus and here we demonstrate that the proximal locus is subject to genomic imprinting too. Genomic imprinting has considerable implications for genetic counselling in families with glomus tumours. In addition to this the sex ratio among affected offspring appears to be influenced by the paternal or maternal origin of the gene of the transmitting father.

Aged↗
PubMed1989

Colonic malignancy mimicking an appendiceal mass.

The records of 99 patients admitted for inflammatory appendiceal mass were evaluated. Eight of these patients (8%) had a malignancy of the right colon with, in four cases, secondary inflammation of the appendix. Remnants of inflammation limited to the appendix were present in 64 patients. These two groups were compared to a group of 21 patients treated in the same period for a palpable malignancy of the right colon. In patients older than 50 years absence of pain, symptoms which last more than one week, a painless palpable mass in the right lower abdomen and the presence of anemia indicate (underlying) colonic malignancy. Barium enema of the colon remains the most reliable method for a correct preoperative diagnosis of colonic malignancy and should be done in every patient older than 50 years who presents with an appendiceal mass, as well as in younger patients with a protracted course of the disease.

Adenocarcinoma↗
PubMed1986

Carotid body tumor: familial occurrence.

Four patients are presented with a carotid body tumor and three patients who may have had a carotid body tumor, all from one family of 81 members. This confirms the familial incidence of this tumor. A short review of the literature is presented. An autosomal dominant inheritance seems most likely in familial carotid body tumor. Screening family relatives of patients to diagnose a carotid body tumor at an early stage should make surgery easier and reduce the complication rate associated with surgery.

Adult↗