Three of four adult siblings in a family which was studied for three generations had clinical and/or laboratory signs of slowly progressive intrahepatic cholestasis. Slight hyperpigmentation, facial hypertrichosis, and hypothyroidism were seen in affected individuals who also had prolonged increase in serum transaminase, gamma-glutamyltranspeptidase, and alkaline phosphatase activities. Asymptomatic intervals were characterized by abnormal bromosulfophthalein retention, reduced N-demethylation capacity, elevated fasting total serum bile acid levels, and normal light microscopic findings. A high serum alpha-lipoprotein level was found in individuals affected with this hitherto unknown entity which appears to have an autosomal recessive mode of inheritance.

Adult↗

PubMedDate not supplied

Tumor suppressor genes (TSG).

In the last two decades the field of tumor suppressor genes (TSG) has developed from a novel epidemiology-based concept into one of the pillars of cancer research. New TSG are being discovered and although at a painstakingly slower pace, their functions are also being unravelled. These breakthroughs have not only brought about immediate benefits to clinical medicine such as genetic predictive testing for familial cancer syndromes, but have also introduced new strategies against cancer including early intervention, prevention and promising anti-cancer drugs. Despite that, we are still far from fully understanding the functional complexity of TSG with each discovery leading to even more queries. New developments that challenge the paradigm of TSG have also surfaced warranting verification and there is still a lack of consensual criteria and systematic cataloging for TSG. With the advent of high throughput sequencing and powerful bio-informatics, it is expected that the field of TSG will be expanding at an even faster pace. This review is to give a summary of the history, new concepts and recent advancements in the field of TSG in the hope that some of these concepts and works can be evaluated, expanded or even challenged.

Cell Transformation, Neoplastic↗

PubMedDate not supplied

Relationship between subjective nasal stuffiness and nasal patency measured by acoustic rhinometry.

Nasal geometry measured by acoustic rhinometry was compared with the subjective sensation of nasal stuffiness in healthy subjects before and after provocation with histamine. The correlation was poor at rest, but it was significant after histamine provocation in children and adults. It is easier to find a relationship between subjective and objective nasal obstruction afer inducing congestion. (American Journal of

Adolescent↗

PubMedDate not supplied

A short progress report. An interactive computer program for self-distributed medical questionnaires.

Explore the source record for details and available documents.

Computers↗