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Biomedical subjects

S Mariani

Publications and source records attributed to S Mariani.

18 recordsLinked to original sources
PubMed1995

Intrauterine diagnosis and management of transient myeloproliferative disorder.

Transient myeloproliferative disorders can be associated with hydrops in Down syndrome fetuses. No cases of prenatal management of such a condition have been reported in the literature. We report a case of myeloproliferative disorder diagnosed by cordocentesis at 31 weeks in a Down syndrome fetus with pericardial effusion. A pericardiocentesis was performed at the first signs of hydrops and successfully improved fetal cardiac function, allowing for continuation of pregnancy.

Adult↗
PubMed1994

Prognostic indicators in the prenatal diagnosis of agenesis of corpus callosum.

OBJECTIVE: Our aim was to determine the accuracy of ultrasonography in the prenatal diagnosis of agenesis of the corpus callosum and to establish whether ultrasonography can provide prognostic indicators in cases of agenesis of the corpus callosum. STUDY DESIGN: Prospective ultrasonographic study of the corpus callosum in all cases during an 8-year period in which fetal cerebral ventriculomegaly was detected. RESULTS: A total of 14 cases of agenesis of the corpus callosum are reported. In seven cases agencies of the corpus callosum was an isolated finding, and in seven cases it was associated with other abnormalities. Six cases involved mendelian syndromes (3 Lissencephaly syndrome, 2 Aicardi syndrome, and 1 Andermann syndrome), and one case was associated with trisomy 13. In 5 of 14 fetuses, all male, agenesis of the corpus callosum was an isolated benign finding. The corpus callosum could never be visualized before midgestation, but diagnosis of agenesis of the corpus callosum was very accurate after 20 weeks. CONCLUSION: Prenatal ultrasonographic findings suggestive of agenesis of the corpus callosum should be followed by a careful search for associated anomalies that may indicate genetic syndromes. Isolated agenesis of the corpus callosum is often an isolated, benign finding, particularly in male fetuses. In families at risk for mendelian syndromes associated with agenesis of the corpus callosum, lack of visualization of this structure is suggestive of the diagnosis.

Agenesis of Corpus Callosum↗
PubMed1992

Human Sertoli cells in vitro: morphological features and androgen-binding protein secretion.

Sertoli cells play a pivotal role in the regulation of spermatogenesis as they provide the anatomical basis of the blood-testis barrier. In the present paper we report some results of our studies on the ultrastructural features, the responsiveness to FSH, and the ability to secrete androgen-binding protein (ABP) of human Sertoli cells in vitro. The nucleus showed the characteristic foldings of the nuclear membrane, scattered chromatin, and a fibrillar nucleolus. In the cytoplasm Charcot-Boettcher crystals were present and active phagocytic activity was documented by the presence of vacuoles containing lipids and cellular debris. Human Sertoli cells in culture responded to FSH with a maximal rise in cAMP that was approx. 3-fold. This response to FSH is comparable to that reported for the adult rat but lower than that of the immature rat, and suggests that human as well as rat Sertoli cells could have a reduced response to FSH since sexual maturation was achieved. As no evidence has been reported on ABP secretion by human Sertoli cells in culture we evaluated the concentration of this protein in the Sertoli cell spent media. Human Sertoli cells in culture produced ABP and the response to FSH was dose-related. The Kd value of human ABP (hABP) was approx. 7.5 nM, being slightly higher than that of the rat ABP and an order of magnitude different from that of sex hormone-binding globulin (SHBG) present in human plasma. We also measured the association and dissociation rates of dihydrotestosterone-hABP complexes and the Kd/Ka ratio was very close to the value of Kd of the Scatchard analysis. The differences between hABP and SHBG may open the way to the selective measurement of ABP in many conditions of male infertility.

Androgen-Binding Protein↗
PubMed1992

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↗
PubMed1990

[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↗
PubMed1989

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↗
PubMed1989

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↗
PubMed1988

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↗
PubMed1988

[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↗
PubMed1982

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↗
PubMed1982

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↗
PubMedDate not supplied

[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↗