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Biomedical subjects

V Annese

Publications and source records attributed to V Annese.

95 records · Page 6Linked to original sources
PubMedDate not supplied

NOD2/CARD15 in healthy relatives of IBD patients.

BACKGROUND: Crohn's disease (CD) and Ulcerative Colitis (UC) are related chronic inflammatory disorders of the intestine (IBD) caused by a combination of genetic and environmental factors. Three polymorphisms within the NOD2/CARD15 gene are highly associated with CD, increasing the risk from 2 up to 44-fold, depending on the presence of one or two risk alleles. Aim of this study was to investigate the presence of two risk alleles on healthy relatives of IBD patients and prospectively follow them for possible development of IBD. MATERIALS AND METHODS: Healthy relatives of familial IBD patients were recruited in our Institution and across Italy in a multicenter study of the IG-IBD. One hundred and twenty one IBD families were identified and blood samples were obtained from 415 first-degree healthy relatives. Single nucleotide polymorphisms (SNPs) R702W, G908R, and L1007finsC of the CARD15 gene were investigated by multiplex pyrosequencing technique. Data obtained in 205 healthy controls (HC) were compared by chi-square or Fisher's test. RESULTS: Ninety eight (28.7%) healthy relatives had one risk allele (HC 14.6%; p = 0.002, OR 2, C.I. 1-4), while 8 had two risk alleles (vs 0.5% of healthy controls; p = 0.01). All subjects were asymptomatic at the time of blood sample and record collections (between 1996 and 1999) and were further investigated with abdominal ultrasonography, blood chemistry and haemoccult test, after 5-8 years of follow-up. All were still asymptomatic with negative findings. CONCLUSIONS: Our study once again supports the importance of gene-gene and gene-environment interactions for the final development of the disease.

Abdomen↗
PubMedDate not supplied

[Primary esophageal motility disorders: medical treatment].

Primary esophageal motility disorders consist of a complex group of motor disturbances, affecting the characteristics of esophageal contractions, occurrence of peristalsis and lower esophageal sphincter function. The medical treatment is still challenging because of the absence, except for Achalasia, of generally agreed criteria for diagnosis and the still unresolved relationship between esophageal symptoms and some motor abnormalities. In Achalasia, the medical therapy does not constitute a main role and should be reserved to selected conditions. Current medical therapies for Diffuse Esophageal Spasm and Esophageal Chest Pain are often considered less than satisfactory, however, a better physiopathological knowledge of these conditions might produce a more appropriate therapeutic management of the patients with continual and disabling symptoms.

Chest Pain↗
PubMedDate not supplied

The aminopyrine breath test.

The metabolic basis and clinical application of the aminopyrine breath test (ABT) as a measure of liver function is reviewed in this article. Several papers have been published in the 20 years that have elapsed since the test was validated in man by Hepner and Vesell. Nevertheless, even if the aminopyrine breath test has been shown to be a non-invasive, reliable and semiquantitative liver function test with diagnostic and prognostic accuracy, it is not yet extensively used in clinical practice, probably because it is not widely known to clinicians. The aminopyrine breath test, like other newer tests (phenacetin, caffeine and erythromycin breath tests), allows the effects of drugs on hepatic cytochrome P-450 to be explored both in normal subjects and in liver patients. This interesting field of application is sure to expand the appeal of the aminopyrine breath test in the future.

Aminopyrine↗