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S Rossetti

Publications and source records attributed to S Rossetti.

47 records · Page 3Linked to original sources
PubMed1993

Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disease and autosomal recessive junctional epidermolysis bullosa with pyloric atresia.

Amniocentesis and fetal skin biopsies were performed at 18 weeks of gestation in a fetus at risk for autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive junctional epidermolysis bullosa (EBJ) with pyloric atresia. A previous son of the couple under investigation had died at 3 months of EBJ. The mother of the propositus has ADPKD. Genetic linkage studies were carried out in 11 relatives (4 with ADPKD), and on fetal DNA obtained from cultured amniocytes, using 8 flanking DNA markers tightly linked to the PKD1 locus on chromosome 16p, and a DNA marker linked to another putative ADPKD locus on chromosome 2p. The linkage results indicated that the fetus had not inherited the ADPKD chromosome from the affected mother, with a diagnostic accuracy of > 99%. Ultrastructural and immunohistochemical analyses of multiple fetal skin biopsies showed no EBJ-associated abnormalities. Thus, combining recent morphological and molecular diagnostic methods, we could show that the fetus was free from both diseases. After 40 weeks of gestation, a normal male infant was delivered.

Adult↗
PubMed1993

Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations.

We report a case of an unusual prenatal presentation of polycystic kidneys associated with multiple skeletal limb defects, including polydactyly, syndactyly, bilateral agenesis of the tibia, and club foot. The ultrasonographic picture was consistent with a diagnosis of polycystic kidney disease, either the adult onset autosomal dominant type (ADPKD) or the early onset autosomal recessive form (ARPKD). However, there was a positive family history for ADPKD. Linkage analysis was performed in 10 family members, of whom four were affected, using six flanking DNA markers tightly linked to the PKD1 locus on chromosome 16p, and one marker linked to the putative PKD2 locus on chromosome 2p. Lod score determinations indicated that the affected gene in the family is most likely PKD1. The patient inherited the disease linked haplotype from his affected mother.

Adult↗
PubMed1987

Haemodynamic effects of diltiazem at rest and during exercise in patients with previous myocardial infarction.

A single blind study between placebo and diltiazem (25 mg i.v. single dose) was carried out on 20 male patients with previous myocardial infarction and without exertional ischaemia. Patients, 50 +/- 6.1 (mean +/- SD) years of age, underwent a right heart catheterization with Seldinger's percutaneous approach and brachial or radial artery percutaneous catheterization. Haemodynamic variables were recorded in the supine position after catheterization in baseline conditions at rest, after a warming-up period of 6 min, before and after a first and second exercise test with stepwise increments of 25 W per 3 min. Before the second exercise test, either placebo or diltiazem (25 mg) was injected intravenously in 3 min. In comparison with placebo, diltiazem significantly reduced resting blood pressure (P less than 0.001) and systemic vascular resistance (P less than 0.001) and increased cardiac index (P less than 0.01); during exercise it also reduced the mean pulmonary arterial pressure (P less than 0.05), pulmonary wedge pressure (P less than 0.05), total pulmonary resistance (P less than 0.02), and increased the stroke volume (P less than 0.05). The present study demonstrated that intravenous diltiazem did not induce a significant rise in cardiac index but reduced the afterload and slightly reduced the preload. Diltiazem also reduced myocardial oxygen consumption and decreased blood pressure, mean right atrial pressure and slightly decreased the heart rate.

Cardiac Catheterization↗
PubMed1984

Double-blind placebo-controlled clinical trial of microporous cholestyramine in the treatment of intra- and extra-hepatic cholestasis: relationship between itching and serum bile acids.

In order to investigate the effectiveness of microporous cholestyramine in the pharmacological management of intra- and extrahepatic cholestasis, a double-blind placebo-controlled study was carried out in 10 patients. Microporous cholestyramine or placebo 3 g t.i.d. were given orally over a four-week period. The active drug resulted statistically superior to the placebo in reducing itching intensity (p less than 0.01) and serum bile acids (p less than 0.01). A positive linear relationship between itching and serum bile acids (p less than 0.01) was also demonstrated.

Adult↗
PubMedDate not supplied

Laboratory evaluation of the patient with liver disease.

Because the liver performs multiple functions, no single laboratory test or battery of tests is sufficient to provide a complete estimate of the function of the liver in every clinical situation. A broad array of biochemical tests are used to assess the many functions of the liver and to evaluate patients with suspected or established liver disease. These tests are referred to collectively as "liver function tests" (LFTs). LFTs are used to screen people for the presence of liver disease, suggest the underlying cause, estimate the severity, assess prognosis, and monitor the efficacy of therapy. Abnormal LFTs may be the first indication of sub clinical liver disease and may thereby guide further diagnostic evaluation. After the existence of hepatic dysfunction is recognized, the specific pattern of liver test abnormalities may suggest the category of the underlying liver disease, such hepatitis, biliary obstructions, or infiltrative liver disease. The value of screening healthy, asymptomatic persons for liver disease with the use of LFTs is controversial and may not be cost-effective. If screening is performed a panel of tests (e.g., AST, alkaline phosphatase, bilirubin, albumin) is preferable to using a single test because of superior sensitivity and specificity for liver disease and lower cost than the sum of individually performed tests.

Humans↗