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At least 181 records · Page 10Linked to original sources
PubMed1999

Multiple endocrine neoplasia type 1.

Combined clinical and laboratory investigations of multiple endocrine neoplasia type 1 (MEN1) have resulted in an increased understanding of this disorder which may be inherited as an autosomal dominant condition. Defining the features of each disease manifestation in MEN1 has improved patient management and treatment, and has also facilitated a screening protocol to be instituted. The application of the techniques of molecular biology has enabled the identification of the gene causing MEN1 and the detection of mutations in patients. The function of the protein encoded by the MEN1 gene has been shown to be in the regulation of JunD-mediated transcription but much still remains to be elucidated. However, these recent advances provide for the identification of mutant MEN1 gene carriers who are at a high risk of developing this disorder and thus require regular and biochemical screening to detect the development of endocrine tumours.

Genes, Tumor Suppressor↗
PubMed1985

Latent familial multiple endocrine neoplasia in Tasmania.

The largest-known family tree of a kindred with multiple endocrine neoplasia type I, dating back to 1840, has been constructed in Tasmania. There are over 600 descendants of one English migrant and his spouse living today. Preliminary data suggests that overall, one-quarter of all family members, and one-half of those above the age of 40 manifest one or more endocrine tumours. In the majority of cases, the diagnosis was not suspected until the general practitioner was informed of the family history, as the symptoms are vague, sometimes bizarre, and overlap with those of common disorders.

Adult↗
PubMed1992

Benign neoplasms and cysts of the mediastinum.

Benign neoplasms and cysts are the most common tumors of the mediastinum. However, they are still an infrequent clinical entity. Their diagnosis has been aided by the recent advances in CT scanning, MRI, ultrasonography, radionucleotide scanning, and fine-needle aspiration. The treatment of these benign tumors in children and the majority of adults is excision. In asymptomatic adults, observation or fine-needle aspiration and observation may be considered for pericardial cysts and selected neurogenic tumors and bronchogenic cysts.

Diagnosis, Differential↗
PubMed1977

Peptic ulcer disease--a heterogeneous group of disorders?

The familial aggregation of peptic ulcer disease has been well established, as has its association with such clear-cut genetic factors as blood group O and nonsecretor status. However, the genetics of this disorder, or group of disorders, is still in question. Polygenic inheritance is the prevailing hypothesis that has been proposed for peptic ulcer. This hypothesis was based primarily on the exclusion of a simple mode of inheritance for all ulcer disease. Genetic heterogeneity is an alternative hypothesis that can explain both the familial aggregation of peptic ulcer disease and the lack of a simple Mendelian pattern of inheritance. The evidence for genetic heterogeneity in peptic ulcer disease is reviewed, and studies are proposed to test this hypothesis.

ABO Blood-Group System↗