Search PubMed⌕ Search

Biomedical subjects

R Barone

Publications and source records attributed to R Barone.

At least 73 records · Page 4Linked to original sources
PubMed1996

Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.

The carbohydrate-deficient glycoprotein (CDG) syndromes are a group of genetic multisystem disorders with invariable involvement of the nervous system including severe olivopontocerebellar atrophy. We report two sets of sibs in whom the diagnosis of CDG syndrome type 1 was recognized at an older age because of marked olivopontocerebellar atrophy seen on MRI. Previous CT findings were interpreted as showing Dandy-Walker malformation. Three of the patients are also among the oldest reported with this syndrome.

Adult↗
PubMed1996

The effect of metformin on liver blood flow in vivo in normal subjects and patients with non insulin dependent diabetes.

We previously reported that metformin improves insulin-mediated glucose liver metabolism in patients with non insulin dependent diabetes (NIDDM). It is not clear whether this is a direct effect of metformin on liver metabolism or mediated by other mechanisms such as increased liver blood flow. In this respect it has recently been reported that metformin increases hepatic blood flow (HBF) in diabetic rats. The aim of this study was to evaluate whether the administration of metformin is associated with modifications in HBF in humans. Patients affected by NIDDM (n = 11) and normal subjects (n = 6) were studied. In the first protocol HBF was investigated in six overweight (BMI 27 +/- 2 Kg/m2) NIDDM patients and six normal subjects (age and BMI matched) already on metformin treatment before and 2 h after the administration of 500 mg metformin. In the second protocol HBF was investigated in obese (BMI 32 +/- 1 Kg/m2) NIDDM patients (n = 5) in good metabolic control before and after 15 days of metformin at the dose of 1 g daily. HBF was measured by intravenous injection of 3 mCi 99mTc-phytate. In both protocols no significant changes in HBF were observed following metformin administration either in NIDDM patients or normal subjects. No significant differences were observed in HBF between diabetic patients and normal subjects. These data indicate that metformin has no effect on HBF in man. The previously reported improvement of insulin mediated liver metabolism induced by metformin is likely to be a consequence of the direct effect of the drug at hepatocyte level which is independent of HBF modifications.

Adult↗
PubMed1996

Treatment of bilateral cytomegalovirus retinitis with sustained-release ganciclovir implants in a child.

PURPOSE: To report treatment of bilateral cytomegalovirus (CMV) retinitis in an 11-year-old girl with acquired immunodeficiency syndrome (AIDS). METHOD: Case report describing the use of intravitreal ganciclovir sustained-release devices to treat CMV retinitis, involving zones 1 through 3, which progressed despite single and combination intravenous therapy with ganciclovir and foscarnet. RESULTS: Stabilization with no active CMV retinitis was achieved after bilateral implantation of intravitreal sustained-release ganciclovir devices. There was no reactivation of the retinitis during the 5 months of follow-up. CONCLUSION: Sustained-release ganciclovir implants can be used to achieve local control of CMV retinitis in the pediatric patient.

AIDS-Related Opportunistic Infections↗
PubMed1996

Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I.

CDG syndrome (CDGS) type I is the most frequent form of a group of metabolic disorders characterised by a defect of the carbohydrate moiety of glycoproteins. A large number of plasma glycoproteins, including clotting factors and inhibitors, are decreased and stroke-like episodes have been described in about half of the reported patients. We studied blood coagulation factors, inhibitors and D-dimer plasma levels in four subjects, aged 12-23 years, with CDGS type I. Factors VIII, XI, antithrombin III activity, antigen plasma levels of antithrombin III, free protein S and protein C were decreased whereas protein C as activity was normal. In addition two patients had reduction of factors II, V, VII, IX, X reflecting the phenotypic heterogeneity associated with CDGS type I. D-dimer plasma concentrations were elevated in all subjects. The hypercoagulable state as consequence of the combined deficiencies of coagulation inhibitors could contribute to the stroke-like phenomena in CDGS type I.

Adolescent↗
PubMed1995

Inter- and intrafamilial variability in mucolipidosis II (I-cell disease).

In this paper nine patients with mucolipidosis II (I-cell disease) are described. They had clinical features commonly found in mucolipidosis II, including disproportionate dwarfism, coarse facial features and mental retardation. However, there was remarkable variability in age of onset, organ manifestation and radiological findings. Some had unusual clinical symptoms including pericardial effusion and profound brain atrophy. Striking differences in phenotypic expression were also seen in two affected siblings. Clinical heterogeneity is observed not only in mucolipidosis II but also in many other lysosomal storage disorders. The factors that may contribute to this clinical diversity are discussed.

Age of Onset↗
PubMed1995

NF2 gene analysis distinguishes hemangiopericytoma from meningioma.

The histogenesis of dural-based or "central" hemangiopericytomas (cHPCs) remains controversial. Some authors consider these tumors variants of meningiomas while others consider them akin to peripheral hemangiopericytomas (pHPCs). Meningiomas frequently have mutations in the neurofibromatosis 2 (NF2) gene, providing a molecular marker for meningiomas and other NF2-related tumors. We therefore analyzed the NF2 gene in cHPCs, pHPCs, and meningiomas to determine whether cHPCs are more similar at the molecular genetic level to meningiomas or pHPCs. Using paraffin-embedded archival material from 28 cHPCs (including three primary and recurrent tumors), 10 pHPCs, and 26 meningiomas, we scanned all 17 exons of the NF2 gene and flanking intronic sequences for mutations with single strand conformation polymorphism analysis and DNA sequencing. No NF2 mutations were found in either cHPCs or pHPCs, whereas 35% of meningiomas had NF2 gene alterations (P < 0.001). The NF2 gene mutations in meningiomas were all truncating mutations, consistent with previous studies. Our findings suggest that cHPCs are distinct from meningiomas at the molecular genetic level and support prior clinico-pathological data that distinguish these tumor-entities.

Adult↗
PubMed1995

Treatment of recurrent and resistant CAPD peritonitis by temporary withdrawal of peritoneal dialysis without removal of the catheter.

Recurrent and resistant continuous ambulatory peritoneal dialysis (CAPD) peritonitis is usually treated by removal of the catheter and temporary hemodialysis. We treated 3 patients: 1 with resistant Klebsiella peritonitis and 2 with recurrent peritonitis (one due to Staphylococcus and the other to Enterococcus), by stopping CAPD for a 2-4 week period, leaving the catheter in situ and continuing antibiotic therapy. All 3 patients had resolution of their infections and restarted CAPD. This therapeutic modality reduced catheter replacements, limited admissions to the hospital, reduced psychological impact, and diminished risks and costs of CAPD.

Adult↗
PubMed1995

111In-octreotide scintigraphy in metastatic medullary thyroid carcinoma before and after octreotide therapy: in vivo evidence of the possible down-regulation of somatostatin receptors.

We have investigated the presence of somatostatin receptors on the cell surface of metastatic medullary thyroid carcinoma in vivo using 111In-Octreotide scintigraphy. Five patients were studied before and three months after therapy with octreotide (300-600 micrograms/day). After each 111In-Octreotide scintigraphy the target/background (T/B) radioactivity ratio was calculated for each detectable metastases. A total of 14/18 metastases showed a reduction in the T/B ratio after therapy, suggesting saturation or down-regulation of the somatostatin receptors on metastases induced by octreotide therapy. Patients also showed a reduction in serum calcitonin levels after therapy. We conclude that 111In-Octreotide scintigraphy may be useful in medullary thyroid carcinoma to evaluate the rationale for somatostatin therapy and to monitor the effect of treatment.

Adult↗
PubMed1994

Effect of incision and flap reflection on postoperative pain after the removal of partially impacted mandibular third molars.

A clinical trial was carried out to evaluate the influence of incision and reflection of a flap on pain after the removal of partially erupted mandibular third molars. A sequential design for intraindividual comparisons was chosen. The patients underwent bilateral extraction of partially impacted mandibular third molars with a standard incision on one side (control) and without incision (test) on the other side. One week postoperatively, the patients were asked on which side they had experienced more postoperative pain. The preset level of significance (P < .05) was reached after 11 patients were treated. Eight patients had more severe pain on the control side, while three patients did not experience any difference in pain between the two sides. The nonsurgical approach did not increase the chair time and appeared to be an effective way of reducing postoperative discomfort after extraction of partially erupted third molars.

Adolescent↗
PubMed1992

Protein restriction and progression of chronic renal failure.

The effect of protein restriction upon the rate of renal functional decline was studied in 7 patients with moderate chronic renal failure (CRF). The rate of progression of CRF was evaluated by the reciprocal of plasma creatinine concentration (1/Cr) in time method, every 1-3 months, during 12 months while on ad-libitum diet and 23-40 months thereafter while on protein restriction. While on ad-libitum diet, 4/7 patients showed a progressive disease and the other 3 showed a relatively stable evolution. Six months after protein restriction, patients with a previous progressive disease showed an amelioration in the decline in renal function, and those with stable CRF showed a worsening of the disease in two cases and an improvement in the other one. During the first six months on low protein diet, a transitory increase in plasma creatinine concentration was observed, being maximum at 2.7 months. Plasma urea concentration fell, after protein restriction, to values close to that predicted at the time of the prescription of the diet. Mean systolic and diastolic arterial blood pressure remained stable throughout the study and it was not necessary to change the pharmacological treatment. Our data show that protein restriction decreases the rate of progression of CRF in patients with previous progressive disease. This benefit may result from the suppression of compensatory hyperfiltration induced by low protein diet, as suggested by the increase in plasma creatinine concentration.

Adult↗
PubMed1992

[Evaluation of work styles using the clinical case method at the departments of mental health in the region of Campania].

In the present study, designed after the Australian "Quality Assurance Project", the same 9 clinical "vignettes" relative to 3 schizophrenia cases, 3 depressives and 3 neurosis were read by 48 psychiatrists of the Campania Region (Italy). For each case, the psychiatrists were requested to give their opinions on best place of treatment, psycoactive drugs, psychotherapy, etc. A remarkable variability among psychiatrists was observed, regarding not only psycotherapy but drug therapy as well.

Adult↗
PubMed1992

[Propofol in gynecologic ambulatory minor surgery].

We have reported the results of 700 general anesthesia induced and maintained by Propofol in women who have undergone IVG operation. The anesthesia-method used has guaranteed an adequate level of anesthesia with the characteristics of a quick induction, non significant variations of the cardiovascular parameters, a quick recovery of consciousness, low incidence of side effects, the abolition of the azote-peroxide and the halogen-anesthetics, a quick discharge of the patients.

Adult↗
PubMed1990

Prevalence of oral lesions among HIV-infected intravenous drug abusers and other risk groups.

To study the prevalence of oral manifestations, we examined 217 patients infected with the human immunodeficiency virus (HIV). Most of our patients were intravenous drug abusers (IVDAs) (65%). Other risk categories were represented by IVDAs who were also male homosexuals or bisexuals (11%), male homosexuals and bisexuals (16%), sexual partners of HIV-infected patients (5%), and hemophilic persons and recipients of blood transfusions (3%). Forty-six patients were women and 171 were men, with a median age of 27 years (range, 11 to 65 years). At the time of first examination, 38% of patients had asymptomatic HIV infection, 36% had lymphadenopathy syndrome, 17% had AIDS-related complex, and 9% had AIDS. Oral manifestations were observed in 89 (41%) patients. Of these, 15 had asymptomatic infection, 23 had lymphadenopathy syndrome, 27 had AIDS-related complex, and 24 had AIDS. Increasing severity of disease was significantly associated with higher prevalence of oral lesions (p less than or equal to 0.0001). Candidiasis was the most common oral lesion, followed by hairy leukoplakia. Kaposi's sarcoma, melanotic macules, herpes labialis, condyloma acuminatum, perioral molluscum contagiosum, and bacterial glossitis due to Escherichia coli infection were found in a small number of patients. Results of culture for fungi, available for 203 patients, revealed that 51% of patients with positive Candida cultures had clinical evidence of candidiasis. Our study demonstrates that oral lesions are also important signs of HIV infection among IVDAs. Early diagnosis of these manifestations is becoming increasingly significant in the practice of dentistry.

Adolescent↗
PubMed1990

Lymphocyte function response to gammaglobulin infusion in common variable and sex-linked agammaglobulinaemia.

Lymphocyte electrophoretic mobility and natural killer cytotoxic activity are marked deranged in agammaglobulinaemia. These alterations can be normalised by correction of the serum Ig pattern. This suggests that Ig activity goes beyond specific antibody activity. I.v. Ig, in fact, exert several activities that also involve T-cell regulatory functions. It would thus be more correct to speak of "immunotherapy" of humoral immunodeficiencies with i.v. Ig, rather than simple "immunosubstitution".

Adult↗