Search PubMed⌕ Search

Biomedical subjects

V Benigno

Publications and source records attributed to V Benigno.

At least 19 recordsLinked to original sources
PubMed2005

Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study.

BACKGROUND: The efficacy of ACE-inhibitors in decreasing microalbuminuria and proteinuria has been reported in a few patients with glycogen storage disease type 1 (GSD1); however, no case-control study has ever been published. AIM: The aim of the current study was to evaluate the efficacy of ACE-inhibitors in reducing glomerular hyperfiltration, microalbuminuria and proteinuria, and in delaying the progression of renal damage. PATIENTS AND METHODS: Ninety-five patients (median age at the time of the study: 14.5 years) were enrolled from nine Italian referral centres for metabolic diseases. A retrospective study of a 10-year follow-up was conducted in order to compare the evolution of these parameters in treated patients with those who were not treated with ACE-inhibitors. RESULTS: A significant and progressive decrease of glomerular filtration rate was observed in treated patients vs. those who were not treated with ACE-inhibitors (P < 0.05). No difference was observed for microalbuminuria and proteinuria between the two groups of patients. Moreover, the ACE-inhibitors significantly delayed the progression from glomerular hyperfiltration to microalbuminuria, but not that from microalbuminuria to proteinuria. CONCLUSIONS: The results of the present study underline the importance of a strict follow-up of renal function in GSD1 patients. The detection of glomerular hyperfiltration suggests precocious initiation of ACE-inhibitor treatment to delay the progression of renal damage. A randomized prospective study is needed to establish for certain the real effectiveness of this treatment in GSD1 patients.

Adolescent↗
PubMed2003

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.

Reported are the clinical, neuroradiologic, and molecular findings in 18 patients with megalencephalic leukoencephalopathy and subcortical cysts (MLC) syndrome. Marked clinical intrafamilial and interfamilial variability in mutation-proven cases was found. A broad spectrum of pathogenetic mutations (missense, splice site, insertion, and deletions) were identified in the MLC1 gene, enlarging the spectrum of allelic variants without a straightforward genotype-phenotype correlation. Five patients did not harbor mutations in MLC1, supporting the existence of at least one other MLC locus.

Adolescent↗
PubMed2000

Hypomagnesaemia-hypercalciuria-nephrocalcinosis: a report of nine cases and a review.

BACKGROUND: The cardinal characteristics of primary hypomagnesaemia-hypercalciuria-nephrocalcinosis include renal magnesium wasting, marked hypercalciuria, renal stones, nephrocalcinosis, a tendency towards chronic renal insufficiency and sometimes even ocular abnormalities or hearing impairment. METHODS: As very few patients with this syndrome have been described, we provide information on nine patients on follow-up at our institutions and review the 42 cases reported in the literature (33 females and 18 males). RESULTS: Urinary tract infections, polyuria-polydipsia, renal stones and tetanic convulsions were the main clinical findings at diagnosis. The clinical course was highly variable; renal failure was often reported. The concomitant occurrence of ocular involvement or hearing impairment was reported in a large subset of patients. Parental consanguinity was noted in some families. CONCLUSIONS: The results indicate an autosomal recessive inheritance. The diagnosis of primary hypomagnesaemia-hypercalciuria-nephrocalcinosis deserves consideration in any patient with nephrocalcinosis and hypercalciuria.

Adolescent↗
PubMed1990

[Quantitative determination of urine bacteria in the diagnosis of urinary tract infections in children].

Bacteria counts in fresh, unstained, uncentrifuged urine specimens, using a phase-contrast microscope, magnification X 400, and a hemocytometer chamber, proved to be a very useful method not only of excluding (specificity 0.92) but also identifying urinary tract infection (sensitivity 0.90) in children. The presence of greater than 5/0.1 ml bacteria in the urine was taken as the threshold value. The evaluation of leukocyturia alone did not alter the sensitivity of the method, even when it was associated with bacteriuria. When Proteus was isolated from urine cultures, the bacteria count proved negative in 60% of cases; otherwise when different bacteria were isolated in urine cultures, they were then identified during the bacteria count. The method is simple, inexpensive and rapid (it requires only a few minutes) and it may be used in a pediatric outpatient or hospital setting.

Adolescent↗
PubMed1977

[The 4 p-syndrome].

Explore the source record for details and available documents.

Abnormalities, Multiple↗
PubMedDate not supplied

Spondylo-costal dysostosis in two siblings.

Two new cases of Spondylo-Costal Dysostosis (SCD) are reported in two siblings with strikingly similar skeletal abnormalities. Parental consanguinity documents in this family an autosomal recessive inheritance of trait. Clinical variability of SCD is discussed on the basis of clinical and radiological features. Its genetic heterogeneity is pointed out even considering the occurrence of cases with autosomal dominant as well as recessive inheritance.

Abnormalities, Multiple↗
PubMedDate not supplied

[Renovascular hypertension in childhood].

One to two per cent of children and up to 11% of adolescent have arterial hypertension. In most cases children and adolescent are not recognized to be hypertensive because physicians do not routinely measure blood pressure. Often the diagnosis is recognized only when the pediatric patients develop a complication: seizure, stroke, heart failure or paraplegia. Renovascular hypertension in children and adolescents is more common than all of the other causes combined, except for coarctation of the aorta. The diagnosis is not so easy and includes the usual history, physical examination (signs and symptoms of coarctation of the isthmic or abdominal aorta or of an abdominal mass or of one of the adrenal causes of hypertension), laboratory studies, abdominal ultrasound study and chest x-ray. Sometime a CAT can be usefull. The next steps are the early and rapid-sequence IVP, renal angiography and peripheral and renal renin activity. The management of renovascular hypertension in children and adolescent includes a conservative approach (percutaneous transluminal renal angioplasty or renal embolization), rarely used in pediatric age, and the surgical treatment. This latter includes all the surgical procedures of renal revascularization and, in unilateral renal parenchymal diseases, the nephrectomy or a partial nephrectomy. The postoperative results are very good in a high percentage of cases. In bilateral cases, the revascularization surgical procedures improve or normalize also the impaired renal function.

Angioplasty, Balloon↗
PubMedDate not supplied

[Is appearance of bronchiolitis affected by environmental and genetic factors?].

We have respectively studied 39 patients (22 males and 17 females) in an age below 18 months affected with bronchiolitis and hospitalized in the "Istituto di Pediatria B (Institute of Pediatrics B) of Palermo's University from november 1986 to april 1987. The parameters we have considered are: 1) the family predisposition to atopy; 2) the type of suckling; 3) the social and economical conditions pointed out the overcrowding index; 4) the every day consumption of cigarettes by the cohabitant relatives; 5) the total dosage of IgE. The data of the hospitalized patients have been compared with the ones pointed out in an "examination group" formed by 64 subjects (36 males and 28 females). The frequency of family predisposition to atopy in our patients has turned out to be inferior to the group examined. The overcrowding index allowed a superposition in the two groups. Among our patients we have found a smaller amount of breast-fed babies and a greater number of smoking cohabitant in comparison with the controls even if the differences statistically were not significant. The serial IgE levels, carried out in 29 patients, resulted high in 6 children (20.69%).

Age Factors↗
PubMedDate not supplied

[Epidemiology of symptomatic infections of the urinary tract in the first two years of life].

The incidence of symptomatic Urinary Tract Infection (U.T.I.) in 2980 children aged under 2 years was valued. The study was performed in the Pediatric Clinic of Palermo between January 1988 and December 1989 involving a number of out paediatricians. The U.T.I. incidence was found to be 3.38%, with a higher frequency in males (4.7%) than in females (2.03%). Urinary tract malformations was diagnosed in 60% of patients with U.T.I. echographically and radiographically examined.

Female↗
PubMedDate not supplied

[Recurrent wheezing in subjects with preceding bronchiolitis. Role of environmental and genetic factors].

We have been following for one year 39 patients, who had been hospitalized in our Institute for an episode of bronchiolitis in the period between November 1986 and April 1987. Only 30 patients (17 males and 13 females) have completed the follow up. The patients have been divided into two groups. The group A (subsequent episodes of broncho-stenosis) was made up of 14 subjects, where as the group B (not-subsequent episodes of broncho-stenosis) counted 16 subjects. In the first group the episodes of wheezing have been 3,14 for Year (range 1-6). The patients of the two groups didn't differ for the gestational age, birth weight, respiratory distress in the first life hours; they moreover were homogeneous for the clinical gravity score and for the period in bed. We have evaluated if certain environmental factors such as the passive smoking, the socio-economical and dwelling conditions of the family and some genetic features such as the familiarity for atopy and the Ig E level may predispose the patients affected by bronchiolitis to a higher incidence of recurrent wheezing. Our data show how the above mentioned factors do not influence the recurrent wheezing in the patients with preceding bronchiolitis.

Bronchiolitis↗