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Biomedical subjects

R Bini

Publications and source records attributed to R Bini.

At least 19 recordsLinked to original sources
PubMed2006

Absence of gene mutations in a case of concomitant presence of carcinoid of the ampulla of vater pheochromocytoma and Von Recklinghausen disease.

The rare association between Von Recklin-ghausen's disease (VRD) and tumours other than in central nervous system is well recognized. However, the concomitance of VRD, a carcinoid of the ampulla of Vater, and a pheochromocytoma has been described very rarely in literature. Furthermore, the possible role of the genes usually involved in multiple endocrine neoplasia (MEN) syndromes, in this association, is unclear. We report the case of a patient affected by VRD and extra-adrenal pheochromocytoma, operated on in the past for a carcinoid of the ampulla of Vater. To determine if genes involved in MEN syndromes might play a role in this particular triad, we investigated the presence of somatic or germline mutations in the RET proto-oncogene and menin gene by non isotopic polymerase chain reaction single stranded conformation polymorphism (PCR-SSCP) and heteroduplex gel electro-phoresis. The results demonstrated that no somatic or germline mutations in the MEN-1 and MEN-2 genes were involved in the pathogenesis of these tumours.

Adult↗
PubMed1999

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.

We have recently observed a large pedigree with a new rare autosomal dominant spastic paraparesis. In three subsequent generations, 13 affected individuals presented with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and spastic paraparesis with amyotrophy. Bilateral cataracts occurred in all affected individuals, with the exception of one patient who presented with a chorioretinal dystrophy, whereas clinical signs of spastic paraparesis showed a variable expressivity. Using a genomewide mapping approach, we mapped the disorder to the long arm of chromosome 10 on band q23.3-q24.2, in a 12-cM chromosomal region where additional neurologic disorders have been localized. The spectrum of phenotypic manifestations in this family is reminiscent of a smaller pedigree, reported recently, confirming the possibility of a new syndrome. Finally, the anticipation of symptoms suggests that an unstable trinucleotide repeat may be responsible for the condition.

Abnormalities, Multiple↗
PubMed1998

Effect of generalised sympathetic activation by cold pressor test on cerebral haemodynamics in healthy humans.

There is no general agreement regarding several aspects of the role of the sympathetic system on cerebral haemodynamics such as extent of effectiveness, operational range and site of action. This study was planned to identify the effect of a generalised sympathetic activation on the cerebral haemodynamics in healthy humans before it is masked by secondary corrections, metabolic or myogenic in nature. A total of 35 healthy volunteers aged 20-35 underwent a 5 min lasting cold pressor test (CPT) performed on their left hand. The cerebral blood flow (CBF) velocity in the middle cerebral arteries and arterial blood pressure were recorded with transcranial Doppler sonography and with a non-invasive finger-cuff method, respectively. The ratio of arterial blood pressure to mean blood velocity (ABP/Vm) and Pulsatility Index (PI) were calculated throughout each trial. CPT induced an increase in mean ABP (range 2-54 mmHg depending on the subject) and only a slight, though significant, increase in blood velocity in the middle cerebral artery (+2.4 and +4.4% on ipsi- and contralateral side, respectively). During CPT, the ratio ABP/Vm increased and PI decreased in all subjects on both sides. These changes began simultaneously with the increase in blood pressure. The increase in ABP/Vm ratio is attributed to an increase in the cerebrovascular resistance, while the concomitant reduction in PI is interpreted as due to the reduction in the compliance of the middle cerebral artery. The results suggest that generalised increases in the sympathetic discharge, causing increases in ABP, can prevent concomitant increases in CBF by acting on both small resistance and large compliant vessels. This effect is also present when a slight increase in blood pressure occurs, which suggests a moderate increase in the sympathetic discharge, i.e. when ABP remains far below the upper limit of CBF autoregulation.

Adult↗
PubMed1996

Report of a new case of axial mesodermal dysplasia complex.

We present a female child with phenotypical and clinical features of the axial mesodermal dysplasia complex. Typical manifestations of both the Goldenhar syndrome and the caudal regression syndrome are present in this complex. Only a few reports have described patients with this pattern of malformations localized in both the cranial and caudal regions. Our case represents a mild form of the complex and may contribute to a better delineation of this condition.

Abnormalities, Multiple↗
PubMed1993

Plasma levels of atrial natriuretic factor (ANF) and urinary excretion of ANF, arginine vasopressin and catecholamines in children with congenital heart disease: effect of cardiac surgery.

We studied the changes in the plasma concentration of atrial natriuretic factor (ANF) and the urinary excretion of ANF, arginine vasopressin (AVP) and catecholamines in 22 children with congenital heart disease, divided into two groups. Group 1 included 11 children with congestive heart failure (CHF), treated with digitalis and diuretics. Group 2 included 11 children without CHF and without medical treatment. Each group was compared with a control group of 15 healthy, age-matched children. The plasma concentration of ANF was raised in both groups, but it was significantly higher in group 1 (235.5 +/- 82.9 pg/ml), compared to group 2 (48.4 +/- 29.4 pg/ml, P < 0.002). Urinary excretion of ANF was measurable in both groups and higher in group 1 (185.9 +/- 116.2 pg/kg per h) than in group 2 (48.5 +/- 30.7 pg/kg per h), but not significantly so. Urinary excretion of AVP and catecholamines was not different in children with congenital heart disease and healthy children. Twenty-four hours after surgery, plasma ANF diminished in group 1 (from 235.5 +/- 82.9 to 93.4 +/- 53.8 pg/ml, P < 0.003), but did not change in group 2. The urinary excretion of ANF was unchanged in both groups. In contrast, urinary excretion of AVP and catecholamines rose significantly in both groups. These data show that plasma ANF is increased in children with congenital heart disease, even in the absence of CHF. The measurement of urinary ANF is less reliable than a plasma assay. The postoperative increases in AVP and catecholamine urinary excretions could be responsible for the vasoconstriction and water retention typical of the postoperative period.

Adolescent↗
PubMed1986

In vitro evaluation of the beta-blocking and electrophysiological properties of mepindolol.

The electrophysiological and beta-blocking effects of mepindolol have been examined in isolated guinea-pig preparations and sheep cardiac Purkinje fibers. Mepindolol did not show selectivity for blocking the chronotropic and inotropic responses to isoprenaline on isolated guinea-pig preparations, and was practically equally potent in blocking the effect of isoprenaline on isolated guinea-pig trachea. Mepindolol 10(-7) M fully antagonized the positive chronotropic effect of isoprenaline (10(-7) M) in Purkinje fibers. However, normal automaticity, action potential characteristics, effective refractory period, membrane responsiveness of Purkinje fibers were unaffected by mepindolol up to 10(-6) M. On the whole, mepindolol appears to be a potent beta-blocker with no cardioselectivity, exerting membrane depressant effect only at concentrations 100-1000 times higher than those exerting effective beta-blockade.

Adrenergic alpha-Antagonists↗
PubMed1986

Effects of dl-methadone on the response to physiological transmitters and on several functional parameters of the isolated guinea-pig heart.

The effects of high concentrations of dl-methadone (1-10 microM) on several parameters of cardiac function were studied in isolated guinea-pig heart preparations. The opioid agonist dose-dependently potentiated the inotropic cardiac response to sympathetic nerve stimulation; this effect was naloxone-insensitive and was antagonized by an increase in extracellular calcium concentration. Moreover, methadone enhanced the dose-inotropic response curve of exogenous noradrenaline. The cardiac response to parasympathetic stimulation was antagonized by the drug through a postsynaptic effect; the responses to histamine and isoprenaline were also antagonized in a noncompetitive way. The spontaneous rate and contractility of atrial preparations were depressed by methadone concentrations above 1 microM; the functional refractory period was increased and the maximal driving rate was reduced at the same range of concentrations. All the above mentioned effects were naloxone-insensitive. In isolated sheep Purkinje fibers methadone, at concentrations of 10 microM and higher, significantly affected the transmembrane action potential parameters, by chiefly decreasing the maximum rate of depolarization and increasing the action potential duration. It was concluded that high concentrations of dl-methadone are able to affect several parameters of cardiac function through an unspecific mechanism different from the stimulation of opiate receptors.

Action Potentials↗
PubMed1982

Modifications in the brush border enzymes of the small intestine after irradiation at different times of the day.

The behaviour of the brush border enzyme activity of the intestinal epithelium after the same sublethal radiation dose to the abdomen at different times of the day was investigated. Three previously observed post-irradiation phases (initial increase of activity, reduction and the return to control values) were confirmed, although with some differences. A later return to normal of lactase was also confirmed. The same dose produced different behaviour of the enzyme activities both during the initial and the recovery phase, depending on the time of the day when irradiation was performed, i.e. on the functional condition of the epithelial cells.

Animals↗
PubMed1978

The straddling mitral valve: morphological observations and clinical implications.

The morphological features of 23 patients with straddling or overriding mitral valve are presented. Levocardia was present in 20 of 23; visceroatrial situs solitisu in 20 of 23, with 3 patients, 2 with asplenia and 1 with polysplenia, having visceral heterotaxia. A concordant D-ventricular loop was present in the 20 patients with visceroatrial situs solitus. Six of these had double outlet right ventricle; 2 had asplenia syndrome; 1 had D-transposition of the great arteries, ventricular defect and pulmonary atresia; 1 with tricuspid atresia and double outlet-outlet chamber; 1 with polysplenia syndrome; and 12 had endocardial cushion defect with marked underdevelopment of the left ventricle, and normally related great arteries. Left ventricular size was related to the amount of mitral valve (or left-sided component of a common atrioventricular valve) connected to it. In those patients in whom little effective mitral orifice was connected to the left ventricle, the left ventricle was diminutive. Endocardial fibroelastosis of the left ventricle was noted in only a single patient. Six of the 7 patients with double outlet right ventricle (including one with double outlet bulbus) had subpulmonary obstruction, and in one of these, this was related in part to the straddling mitral valve. In 1 patient with double outlet right ventricle, there was a double orifice mitral valve, and it was the accessory mitral orifice that straddled. The diagnosis of overriding mitral valve should be suspected in any patient with significant conotruncal anomalies and underdeveloped left ventricle, especially the patient with double outlet right ventricle, and in the patient with endocardial cushion defect, hypoplasia of the left ventricle, and obstructive anomalies of the aortic arch. In certain patients, selective left atriography, left ventriculography, and single and two dimensional echocardiography may be diagnostic of this condition.

Abnormalities, Multiple↗
PubMed1978

[Segmental anatomic diagnosis in congenital cardiac anomalies. I. Anatomic criteria for the identification of the cardiac cavities (author's transl)].

Anatomical features are illustrated for the identification of the cardiac chambers. Essential and accessory morphological structures are recognized. The identification of the atrial cavities is based upon the anatomy of the free walls (crista terminalis, size and shape of the atrial appendages). On the contrary, the identification of the ventricles is founded on the septal morphology (trabecula septo-marginalis on the morphological right side, smooth basal septum on the morphological left side, presence or absence of septal insertions of the atrio-ventricular value apparatus). Finally, no essential feature can be applied to the identification of the great arteries.

Heart↗
PubMed1978

[Segmental anatomic diagnosis in congenital cardiac anomalies. II: Sequential localization of the cardiac chambers (author's transl)].

The approach to the diagnosis of congenital heart disease, based upon the identification of the cardiac chambers, the reconstruction of their sequence and final recognition of the basic circulatory model is discussed. Three cardiac segments are recognizable embriologically, anatomically and functionally: atria, ventricles and great arteries. Connexion is the sequential link of these segments, independently from their spatial relationship. Situs of the atria can be: solitus, inversus or ambiguus, and is determined by the thoracic situs which can be assumed from the bronchial anatomy. Atrio-ventricular connexion can be concordant, absent or double inlet ventricle. Ventricular-arterial connexion can be concordant, discordant, double outlet ventricle or single outlet heart. Since this approach aims to the reconstruction of the connexion among the cardiac segments, heart position and the infundibular anatomy are not relevant to the recognition of the circulatory model.

Heart Atria↗
PubMed1977

[Statistico-mathematical correlation of the B and C isoenzyme ratio of carbonic anhydrase and fetal hemoglobin, and its probable biological significance in the metabolism of zinc].

The AA. performed a study on the Bravais-Galton's correlation coefficient. They applied this coefficient to the HCAB/HCAC ratio and to the fetal haemoglobin often groups of twenty children (one month four years old) values. The result support the assumption that there is a strong biochemical relationship between zinc-carbonic anhydrase and haemoglobin in erithrocytes.

Age Factors↗
PubMed1977

[Subaortic stenosis due to antero-lateral muscular band, associated with ventricular septal defect and underdevelopment of the aortic arch. Anatomical features in three cases (author's transl)].

The pathological findings in three cases with ventricular septal defect and severe coarctation or tubular hypoplasia of the aortic arch are reported. The left ventricular outflow tract was partially obstructed by muscle situated on its antero-lateral wall. The haemodynamic relationship between this type of subaortic stenosis and aortic arch underdevelopment, due to unequal partitioning of the blood flow between the ascending aorta and the pulmonary artery during foetal life, is emphasized. The normal anatomy of the left ventricular infundibulum is described and some embryological hypotheses to explain this antero-lateral muscular band are forwarded.

Aortic Coarctation↗