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Biomedical subjects

S Mariani

Publications and source records attributed to S Mariani.

53 records · Page 3Linked to original sources

Screening for congenital heart disease with the four-chamber view of the fetal heart.

OBJECTIVE: Our objective was to determine the efficacy of the four-chamber view of the fetal heart in routine ultrasonographic examination as a screening tool for congenital heart defects. STUDY DESIGN: A prospective cohort study compared the detection rate of congenital heart defects among 5336 pregnant women screened with the ultrasonographic four-chamber view of the fetal heart from 1987 through 1989 with that among 3680 patients examined ultrasonographically without the four-chamber view during the 2 preceding years (1985 through 1986). All patients were followed until delivery or termination of pregnancy, and clinical or autopsy confirmation of prenatal findings were obtained on all cases. RESULTS: The overall incidence of congenital heart diseases was 5.2 per 1000 (47/9016). During the years 1985 through 1986 15 neonates with congenital heart diseases were identified, seven of which were prenatally diagnosed (sensitivity 43%). During the period 1987 through 1989 a four-chamber view of the fetal heart was obtained in 95% of cases; 32 cases of congenital heart disease occurred, 26 of which were diagnosed antenatally (sensitivity 81%; p = 0.01). Two false-positive diagnoses were made during the second time period, giving a specificity of 99.9%. CONCLUSION: The four-chamber view of the fetal heart is easily obtained, does not significantly increase the duration of a routine ultrasonographic examination, and has an excellent sensitivity for the identification of congenital heart diseases.

Cohort Studies↗

[The use of vegetable fibers in the treatment of pregnancy diabetes and/or excessive wight gain during pregnancy].

Vegetable fibres with a high viscosity reduce the levels of basal and post-prandial glycemia in both normal and diabetic subjects. The paper reports the results of a study to asses the value of glucomannan and guar in the treatment of excessive wight gain in pregnancy and gestational diabetes. Thirty-four patients were included in the study, of which 13 received glucomannan (3 g/day) and 21 guar (10 g/day). An oral glucose tolerance test was performed in all patients before and after therapy. A diminution of basal and post-OGTT glycemia values was observed in all subjects.

Diabetes Mellitus↗

Fetal intracranial calcifications.

In utero sonographic visualization of fetal intracranial calcifications during the second trimester is reported. Its diagnostic process, which included percutaneous umbilical cord blood sampling and fetal paracentesis, is described.

Brain Diseases↗

Identification of a new surface molecule expressed by human LGL and LAK cells production of a specific monoclonal antibody and comparison with other NK/LAK markers.

Recently we described a new monoclonal antibody, termed LAK1, which recognizes a 120-kDa surface antigen that is expressed on virtually all LGL and LAK precursors and effectors. In the present study we describe a second mAb, termed LAK2, which was derived against cloned LAK cells. The LAK2 mAb, similar to the LAK1 mAb reacts with a subset of peripheral blood lymphocytes which includes the precursors of LAK cells. In addition, among IL2-activated peripheral lymphocytes, this antibody defines cells displaying LAK activity. The expression of the LAK2 molecule on PBMC was analyzed by two-color cytofluorometric analysis in comparison with the expression of both T cell and LGL markers. We show that most resting LAK2+ cells lack surface expression of CD3, whereas nearly 60% express CD2 antigen. Moreover, all CD16+ and CD56 (NKH1)+ lymphocytes coexpressed both LAK2 and LAK1 antigens. Morphological analysis of LAK2+ lymphocytes indicated that the majority of these cells was represented by LGL. Thus the expression of the LAK2 molecule on LGL-enriched populations was compared by two-color cytofluorometric analysis to that of other known LGL markers such as CD16, CD57 (HNK1), and LAK1. Most LGL coexpressed LAK1, LAK2, CD16 and CD57 antigens Finally, the surface molecule recognized by LAK2 mAb is composed of two chains with apparent molecular masses of approximately 110 and 140 kDa.

Animals↗

Antenatal sonographic findings of agenesis of corpus callosum.

Agenesis of the corpus callosum is a central nervous system anomaly that may be associated with other intracranial abnormalities. It is easily diagnosed in the postnatal period by computed tomographic scan and ultrasound. However, its prenatal sonographic diagnosis remains a challenge. This report will evaluate three cases of fetal agenesis of the corpus callosum, review the antenatal sonographic findings and postnatal outcomes, and provide criteria for the antenatal diagnosis.

Adult↗

[The sleep-wake rhythm of the fetus].

Our work refers to a body of studies carried out by Sonargram observation, which allowed us to study fetal movements in real time. These fetuses were studied not only as parameters of correct neurobiological maturity but also from the psychological interest which looks for the beginning of thinking based on the question: When and how does the thought process begin in biological matter? The study comparing the movement of fetuses and new-born babies to psychoanalytical research (which have been described in other works) led us to formulate the following hypothesis: motor and sense experiences can only become "mental" after separation from the mother; it can only come about by birth which effectively forces a confrontation on biological grounds: it prepares the thinking process without yet having it. There is a debate between these positions and psychoanalytical schools of thought in which thinking could precede the birth of the human fetus; there might be a stage of sleep (REM) that corresponds to adult dreaming.

Fetal Movement↗

Insulin resistance in a child with Acanthosis nigricans type A.

The patient, a female 6 years 4 months old, diagnosed as affected by Acanthosis nigricans and diabetes mellitus was referred to our Clinic for further investigation of her glucose metabolism. She had a typical face with hypertelorism, prognathism, macroglossia and large auricles. The skin was hyperpigmented, verrucous, hyperkeratotic especially in the folds and flexural areas with small papillomatous or nodular growth; diffused hypertrichosis and hypertrophic clitoris were also present. Biochemical and hormonal investigations revealed no major abnormalities apart from glucose metabolism. After an unsuccessful trial with conventional insulin therapy, endovenous continuous insulin infusion was started: even with 32 U/kg/h it was not possible to achieve normoglycemia. Insulin receptors were studied on erythrocytes: 125I-insulin binding (specific) was clearly lower than normal. The concentration of insulin receptors was reduced, while the average affinity profile was normal. The study of erythrocyte insulin receptors has demonstrated that insulin resistance in this patient is due to a decrease in the number of receptors, i.e. Acanthosis nigricans type A.

Acanthosis Nigricans↗

Large cloisons.

Large masses of normal glomerular (cortical) tissue situated deeply within the kidney and properly called cloisons, can often be mistaken for tumors. The radiographic characteristics of 20 cases are described, including location at or above the middle one-third of the kidney (93%) and bilaterality (60%). Three unusual, but associated papillary-calicine features include the "teat and udder" sign, which derives from the relation of the cloison and its small papillae which resemble a cow's udder and teats, calicine stem displacement, and absence of calicine cup stretching. Further investigation of the cloison by nephrotomography or technetium-labeled glucoheptonate may be necessary in doubtful cases to confirm this benign condition.

Adult↗

Genetics and molecular biology of the GHRH-GH-IGF-I axis.

In this paper, the genetics and molecular biology of the GHRH-GH-IGF-I (Growth Hormone Releasing hormone-Growth Hormone-Insulin like Growth Factor I) axis involved in the pathogenesis of short stature are reviewed. Short stature associated with GH deficiency is estimated to occur in about 1/4000-10,000 live births; 3-30% of cases affect first-degree relatives, suggesting a genetic aetiology. Identification of such molecular defects is very recent and dependent on new findings on the physiology of GHRH-GH-IGF-I axis: for example the pituitary-specific transcription factors and their mutations have only been described in the last few years. The epidemiological importance of the identified molecular defect depends on the level of the axis involved, but the prevalence of some of these genetic defects is probably underestimated. Time will tell what the practical relevance of these findings is and what the clinical features of the new mutations are; we will probably learn something more about the GHRH-GH-IGF-I axis: to date, no mutations have been reported regarding the GHRH gene or the IGF-I receptor.

Adult↗

Thrombus formation in the left atrial appendage in the course of atrial fibrillation.

BACKGROUND: Thromboembolism in patients with nonvalvular atrial fibrillation is secondary to emboli arising from atrial cavities, particularly left atrial appendage. Stroke Prevention Atrial Fibrillation (SPAF) III study showed washing flow, left appendage ejection fraction, natural echocontrast, and left appendage volume and morphology, as risk parameters of thromboembolism. METHODS: The authors examined 69 patients by transesophageal echocardiography, subdividing them into 3 groups: 26 patients in sinus rhythm in Group A (Gr.A), 22 patients in atrial fibrillation without thrombi in the left atrial appendage in Group B (Gr.B), 21 patients with tromboembolism and with thrombus in the left atrial appendage (Gr.C). RESULTS: Atrial volume in sinus rhythm (SR) patients (41.9 +/- 23.4 cm3) was lower than the one in Gr.B (86.2 +/- 47.9 cm3, p < 0.001) and Gr.C (78.6 +/- 28.5 cm3, p < 0.01), whereas no difference was found between Gr.B and Gr.C (86.2 vs. 78.6 cm3; p > 0.05). No difference was found between Gr.A and Gr.B left atrial appendage fraction (31.8% versus 29.1%, p > 0.05), whereas it was found related to Gr.C (31.8% versus 15.4% p < 0.01). Flow velocity within left atrial appendage was significantly higher in Gr.A in relation to the other two groups (p < 0.001); flow velocity in Gr.B was lower than in Gr.A but higher than in Gr.C and in all cases such differences were statistically significant (p < 0.001). Gr.A flow duration was approximately twice as much compared to the one in Gr.B (616.8 +/- 94.1 msec vs. 483.3 +/- 172.6 msec, p < 0.01), whereas it was approximately four times higher compared to the one in Gr.C (616.8 +/- 94.1 msec vs. 165.7 +/- 53.7 msec; p < 0.001). Such duration, if related to the corresponding cardiac cycle, indicates the percentage of time during which blood flows through a cycle within the left atrial appendage; this value is about 85% of cardiac cycle in Gr.A, while it is 65% in Gr.B (p < 0.01) and about 21% in Gr.C (p < 0.001). CONCLUSIONS: Such results add a new parameter to the ones suggested in the SPAF III study for the evaluation of TE risk, that is flow duration measurement within the left atrial appendage, and its ratio to the cardiac cycle. The availability to measure this parameter, by recording the transesophageal pulse wave sample volume positioned in the atrial appendage, makes the evaluation of TE risk more reliable.

Atrial Appendage↗

Diastolic mitral regurgitation: a borderline case in cardiovascular physiology.

BACKGROUND: Mitral regurgitation during diastole in 5 subjects, of whom 4 affected by cardiovascular disease and 1 healthy competitive athlete, was the aim of this work. The 4 patients are respectively affected by: 1st case: arterial hypertension, dyslipidemia and III degree AV block in NYHA class II heart failure (HF); 2nd case: NYHA III HF, prosthetic biologic aortic valve dysfunction; 3th case: NYHA III HF, ischemic dilated cardiomyopathy; 4th case: ischemic dilated cardiomyopathy waiting for heart transplantation. METHODS AND RESULTS: The above 4 patients showed, on transthoracic echocardiogram, mitral diastolic regurgitation. The authors deem as caused, in agreement with the literature, both by an atrio-ventricular pressure gradient inversion during long-lasting diastoles (III degree atrioventricular block, blocked atrial systole, aortic valve regurgitation), and by an inadequate ventricular remodelling/distensibility. The 5th case deals with a healthy highly trained competitive athlete who, at the fitness checkup, showed mitral diastolic regurgitation. The study was also extended to two healthy groups of subjects, in order to rule out mitral regurgitation during the diastolic interval of the cardiac cycle. CONCLUSIONS: Such finding, after an accurate and critical analysis, led the authors to assume it may deal with a borderline physiological condition.

Adult↗

[Paroxysmal tachycardia in children: analysis of two clinical cases].

Two cases of paroxysmal supraventricular tachycardia in children are reported. Associated congenital heart disease were excluded by color-doppler echocardiogram. Electrocardiogram, holter monitoring and transesophageal study (in one case) suggested associated Wolf-Parkinson-White syndrome. The former case was successfully treated with digitalis, the latter, diagnosed "at risk" by transesophageal recording, was long term treated with propafenone. Clinical evaluation at follow-up confirmed the efficacy of the therapy.

Child↗