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Biomedical subjects

S Garofalo

Publications and source records attributed to S Garofalo.

47 records · Page 3Linked to original sources

Treatment of paroxysmal supraventricular tachycardia in infancy with digitalis, adenosine-5'-triphosphate, and verapamil: a comparative study.

The treatment of paroxysmal supraventricular tachycardia (PSVT) in infancy with digitalis, adenosine triphosphate (ATP) and verapamil is reported. Treatment was successful in about 90% of the patients treated with ATP and verapamil and in 61--71% of the patients treated with digitalis (Lanatoside C). Verapamil terminated the tachycardia within 2 minutes of administration in most instances and ATP in less than 1 minute. Digitalis, however, took as long as 2 hours; it was therefore excluded as the drug of first choice in emergencies, and is better suited for treating patients with poor hemodynamics. Side effects with ATP are common but short-lived. With verapamil, side effects are rare, but may be serious if certain contraindications are not taken into account. Digitalis in the dose used in this trial rarely produced side effects. We conclude that ATP or verapamil is the drug of first choice for quick termination of PSVT in infancy.

Adenosine Triphosphate↗

Preoperative evaluation of ferritinemia in primary epithelial ovarian cancer.

AIMS AND BACKGROUND: High ferritin serum levels have been reported in patients suffering from various malignancies. The aim of this study was to evaluate the role of ferritinemia in the preoperative diagnosis of ovarian carcinoma. METHODS: Between March 1993 and September 1996, 60 patients suffering from ovarian carcinoma were surgically treated at our Department. Their ferritin serum levels were measured preoperatively by a solid-phase, two-site chemiluminescent immunometric assay and compared with those of a group of 60 healthy, age-matched, non pregnant controls. RESULTS: The mean serum concentration of ferritin was 54.7 +/- 7.8 ng/ml (range, 14-135) in healthy controls and 112.3 +/- 21.2 ng/ml (range, 9-947) in patients with ovarian carcinoma. The difference was statistically significant (P = 0.005, X2 test = 7.951). Serum ferritin was elevated preoperatively (cutoff > or = 120 ng/ml) in 18/60 patients with malignancy (sensitivity 30%), whereas the CA 125 levels were above the cutoff in 53/60 patients (sensitivity 88.3%). Only 2/60 women of the control group had ferritin titers > 120 ng/ml (specificity 96.7%). The ferritin levels increased with advancing disease stage; no significant correlation was found between ferritin concentration and neoplastic histology and grading. The mean serum iron levels were also measured preoperatively in patients with ovarian carcinoma and healthy controls. They were 57.2 +/- 3.8 and 66.3 +/- 2.61 micrograms/dl, respectively, and the difference was not significant (P = 0.655, X2 test = 0.200). CONCLUSIONS: The present study underlines that although ferritin shows an elevated specificity, its low sensitivity does not suggest any true usefulness as a tumor marker in epithelial ovarian cancer.

Adult↗

Craniofacial and otic capsule abnormalities in a transgenic mouse strain with a Col2a1 mutation.

Abnormal craniofacial features of a transgenic mouse model of chondrodysplasia with a type II collagen mutation (Gly574Ser) are described in this report. In addition to a shortened mandible and cleft palate, a misshapen otic capsule was observed. Interestingly, hearing impairment is often a component of the chondrodysplasia phenotype that results from mutations in COL2A1. To identify a potential mechanism in the hearing loss associated with type II collagen mutations, we examined the development of the otic capsule in the transgenic mice. It appeared to be smaller overall, relative to the skull proportions, and rather than the normal rounded dimensions, the transgenic capsule was flattened and elongated. We speculate that the cartilage of the developing otic capsule was less able to resist the mechanical forces from the developing brain and other tissues within the cranium and thus became deformed under pressure. We further speculate that the hearing loss associated with the chondrodysplasia phenotype is at least partially due to these defects in the developing cartilage matrix of the otic capsule.

Animals↗

Abnormal craniofacial morphology and cartilage structure in transgenic mice harboring a Gly --> Cys mutation in the cartilage-specific type II collagen gene.

Gross morphology and histology of the craniofacial complex was studied in the offspring of two transgenic founder mice, Gly85-1 and Gly85-3, carrying several copies of a mouse type II collagen transgene that causes a single amino acid substitution (Gly-->Cys) at position 85 of the triple helix. The newborn transgenic mice had a short snout and mandible, a protruding tongue, a cleft of the secondary palate with the tongue situated between the shelves, and a doming cranial vault. Radiological examination revealed that the cranial base of the transgenic mice was shorter and its posterior part downward bent; in addition both the palate and the cribriform plate were less extended in relation to the cranial base than in the controls. Histologically the midline cartilaginous structures were composed of densely packed enlarged chondrocytes in a reduced extracellular matrix containing abnormally thick collagen fibrils. With the exception of the zone of hypertrophic chondrocytes the matrix also showed a loss of glycosaminoglycans. The cellular architecture of the basicranial synchondroses was disorganized, and the nasocerebrally oriented collagen fibrils formed unevenly distributed aggregates. The craniofacial morphology described here for the Gly85 mice shares features typical for other mouse mutations causing short limbed dwarfism. The observations indicate that defective cartilage production causes disproportionate craniofacial growth. Transgenic mice with specific mutations in cartilage-specific genes should therefore be useful for elucidating the complex mechanisms involved in determining the craniofacial growth.

Animals↗