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Biomedical subjects

F Ronchi

Publications and source records attributed to F Ronchi.

At least 19 recordsLinked to original sources
PubMed1998

Thrombocytopenic purpura as adverse reaction to recombinant hepatitis B vaccine.

Three cases of immune thrombocytopenic purpura after the first dose of recombinant hepatitis B vaccine occurred in infants under 6 months of age. Other possible causes of this condition were excluded. Antiplatelet antibodies were present. A defect in platelet production was excluded in two children. Corticosteroid treatment was effective. Subsequent administration of other vaccines (against polio, diphtheria, and tetanus) did not cause relapse of thrombocytopenia.

Autoantibodies↗
PubMed1997

A neurophysiological study in children and adolescents with Crigler-Najjar syndrome type I.

We studied the neurophysiological features of five patients (age range: 4-20 years) suffering from Crigler-Najjar syndrome type I (CNsI) by means of multimodal (brainstem, somatosensory, motor) evoked potentials and periodic EEG-polygraphic recordings (follow-up: 3 months-4.5 years). Two patients presented with neurological disturbances, consisting mainly of mental slowing, motor impairment and seizures. Both of them presented an abnormal EEG, characterized by slowing of background activity associated with paroxysmal discharges. Liver transplantation was performed in one of these two patients and was followed by improvement of both the neurological picture and EEG activity. In a third patient, clinically normal, after two years of follow-up, the EEG started to show paroxysmal activity during sleep or when evoked by intermittent photic stimulation. In these three patients, multimodal evoked potentials were unremarkable. The remaining two younger subjects did not show any clinical or EEG abnormality. Our findings suggest that, whereas in newborns and infants evoked potentials have been demonstrated as reliable techniques to monitor bilirubin neurotoxicity, in children and adolescents with CNsI, EEG seems to be more sensitive in evaluating patients for neurological damage and effectiveness of therapeutic strategies adopted.

Adolescent↗
PubMed1994

Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.

Crigler-Najjar syndrome type I (CN-I) is an autosomal recessive condition characterized by severe unconjugated hyperbilirubinemia caused by the lack of bilirubin-UDP-glucuronosyltransferase (B-UGT) activity in the liver. Two B-UGTs are coded for by a gene complex (UGT1) that maps to chromosome 2q37 and that also encodes two phenol-UDP-glucuronosyltransferases. Here, we report eleven mutations (including nine novel mutations) of the B-UGT1 gene in a large series of 14 unrelated CN-I children of various geographic origins: France (seven patients: A401P, Q357X, W335X, A368T, 1223insG, A291V, K426E, K437X); Portugal (two patients: G308E); Tunisia (two patients; Q357R); Turkey (one patient: S381R); italy (two siblings: S381R). Interestingly, 6/14 mutant alleles carried by unrelated probands of French ancestry bore the A401P mutation, indicating a founder effect; this effect is probably also present in Portugal, Turkey, and Tunisia. Since mutations occurred in exons 2-5 shared by all mRNAs species of the gene, a combined deficiency of B-UGT and P-UGT was observed in the liver of five patients in whom these activities were measured. The present study confirms that CN-I is genetically heterogeneous and suggests that different founder effects are involved in Western Europe, the Middle East, and North Africa.

Crigler-Najjar Syndrome↗
PubMed1992

[Interpretation of experimental data in the presence of accidental perturbations: characterization of the bladder].

Some tests are subject to the influence of a special kind of "irreducible" effects which do not satisfy the Central Limit Theorem of statistics, even though they show no systematic character or tendency. These effects especially present when physiological experiments are concerned "in vivo". In such the lack of specific methods to reduce these effects brings about the necessity of special case in minimizing the loss of information. Contained in the experimental data as well as the accumulation of useless information. Recent work has suggested the extensive use of several indexes derived from combination of available variables and their respective mathematic correlation. The information obtained by following this methodology has the character of "working hypothesis" so it needs many favorable confirmation to assess its reliability. It is convenient to analyze a large number of relations in order to emphasize the concordant effects and discord the others. In order to obtain some preliminary indication of the reliability of this procedure we have analyzed some CMG curves in prostatic and non-prostatic subject. The final slope of the curves (urge point) t = dP/dVr has been adapted as an index of the "elasticity" of the bladder; it was compared with the filling volume, the muscular volume and their ratio, i.e. with a geometric index of the bladder shape. The correlation show that the index t can, to some extent significantly represent the mechanical behaviour of the bladder in its physiological condition or when there is a partial obstruction of urine deflection.(ABSTRACT TRUNCATED AT 250 WORDS)

Artifacts↗
PubMed1992

[Conservative elective surgery in kidney neoplasms].

After the good results of "necessary" conservative surgery in the treatment of kidney neoplasms (bilateral neoplasms, congenital, acquired or functional solitary kidney), conservative surgery itself has been employed as elective treatment in selected cases presenting without the overmentioned problems. The authors report two cases of elective conservative surgery in kidney neoplasm with good results after 18 and 24 months.

Aged↗
PubMed1991

[Preliminary clinico-urodynamic study of diabetic uropathy of the bladder].

Twenty-eight diabetic patients of type one have been evaluated in a preliminary study starting from the conclusions of a previous work of the Authors, where the existence of four types of autonomic bladder neuropathies was demonstrated, in opposition to the classic theory of diabetic cistopathy. The examined cases confirm on the basis of clinical trials (HBA1C, cardiovascular autonomic neuropathy tests) and urodynamic tests (urofluxometric test, cistomanometric test, urethral pressure profile) the pleiomorphism of this syndrome and its relations with diabetic disease. On the total amount of the examined cases, 16 patients (57%) showed high values of HBA1C and 17 (60.7%) positive tests for autonomic neuropathy. Distribution of different types of cistopathy confirmed furthermore, beside the higher incidence of the sensitive form (14 pts.), an important percentage of sensitive motory types (4 pts.) and hyperreflexic ones (3 pts.). On the basis of the reported data, a correct and precocious differential diagnostics is recommended in order to face in a better way the serious consequences which may tardily affect the urinary apparatus.

Adult↗
PubMed1990

[Anatomical and surgical considerations on the internal spermatic venous system].

The surgical anatomy of the spermatic venous system is described. Thereafter an experimental evaluation performed on cadavers by the vascular mould technique using plastic materials is reported. The resulting data point out the complex variability of the spermatic venous circulation, stressing the value of preoperative phlebography in the surgical approach to varicocele.

Humans↗
PubMed1989

[Therapy of hyperthyroidism: indications, advantages and disadvantages of treatment of the adult and the elderly].

Hyperthyroid syndromes can be approached in three different ways: medical, surgical and radiant. The medical therapy concerning the treatment of Basedow's disease is based on the extended use of thionamide drugs, which inhibits thyroid hormone biosynthesis and allows progressive recovery to normal glandular function. Agranulocytosis has been reported as the most serious side-effect. Inorganic iodide, lithium salts, beta-adrenergic receptor blocking agents and glucocorticoids have been employed as therapeutic alternatives, though of not common clinical use. Thyroidectomy is preferentially indicated in the treatment of toxic adenoma in fertile age groups and hyperfunctional bulky goiters. The postoperative complications connected with thyroidectomy are the main disadvantages. The use of radioactive iodine is currently the therapy chosen for toxic adenoma after forty years of age and particularly for hyperthyroid syndromes of elderly people, in whom scanty compliance with therapeutic suggestions and the increased postoperative risk make it preferable to other therapies, though incidental development of hypothyroidism after radioactive iodine treatment is not an unusual consequence.

Adult↗
PubMed1988

[Isoenzymes of serum N-acetyl-beta-D-glucosaminidase in insulin-dependent diabetic subjects].

N-acetyl-beta-D-glycosaminidase (NAG) isoenzymes were studied in 28 insulin-dependent diabetics. After electrophoretic migration isoenzyme. A levels were higher than in healthy controls. This suggests that the increase in total serum NAG in diabetics is due to a specific increase in this enzyme. A comparison of these results with those of other authors suggests that NAG alterations are specific to various pathologies.

Acetylglucosaminidase↗
PubMed1987

[Changes in urinary NAG activity in patients with climacteric syndrome treated with estrogens].

The behaviour of urinary NAG activity was studied in patients during menopause, some of whom were given estrogen therapy due to severe vasomotor symptoms (hot flushes etc.). One group of these patients revealed slightly higher than normal blood pressure. A second group had slight arterial hypertension and pancreatic diabetes. The third group consisted of apparently healthy menopausal women. The significant increase in enzymuria in the first two groups suggests that blood pressure should be carefully checked before starting estrogen therapy. Furthermore this treatment should be given very cautiously and under constant surveillance in the presence of slight hypertension. In patients with diabetes or more severe hypertension, estrogens should never be given.

Acetylglucosaminidase↗
PubMed1986

[Effect of antibiotic chemotherapy on urinary N-acetyl-B-D-glucosaminidase activity in patients with chronic pyelonephritis].

The behaviour of N-acetyl-B-D-Glucosaminidase (NAG) was studied in the urine of patients with chronic pyelonephritis under pharmacological treatment for renewed attacks of acute renal inflammation. It was noted that by the end of target chemo-antibiotic treatment all patients presented a reduction in the inflammation and hence the tubular distress. Once treatment was suspended several patients showed an increase tendency in the activity of the enzyme followed by the reappearance of significant bacteriuria and/or leukocyturia. The acute attack of renal inflammation would not have been recognised if the enzymuria technique had been used to monitor the patients.

Acetylglucosaminidase↗
PubMed1985

Comparison between bladder wall's strain analysis and CMG in clinical urodynamics: preliminary report.

On the basis of data obtained in previous experimental investigations, the application of a new physical entity, "strain" (sigma), was evaluated in bladder dynamics. In this preliminary study 12 cases of urodynamically evaluated subjects are reported; the significance of the traditional P(V) curves is critically compared with the new sigma (V) curve, proposed by the authors.

Adolescent↗