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Biomedical subjects

A Villani

Publications and source records attributed to A Villani.

At least 19 recordsLinked to original sources
PubMed2005

XK-aprosencephaly and related entities.

We offer further biological characterization of the XK atelen/aprosencephaly syndrome in two infants, one with prolonged survival, the other presenting prenatally with apparent hydranencephaly and an orbital tumor (OS). Familial occurrence in the former born to presumably nonconsanguineous Lybian parents may represent parental germinal mosaicism or autosomal recessive inheritance. Both had apparently normal chromosomes; however, the Lybian infant had slightly increased induced chromosome breakage suggesting that this rare multiple congenital anomalies syndrome may involve a DNA repair defect. Virtual absence of atelen/aprosencephalic structures may lead to an arthrogryposis-like prenatal movement disorder. The orbital tumor in the Utah infant consisted of dystopic neural tissue compressing a rudimentary globe and was connected by a thin bridge of neural tissue to the small mass of disorganized brain tissue usually found in atelen/aprosencephalic infants and fetuses. No evidence of an encephaloclastic process was found in the autopsied Utah infant.

Abnormalities, Multiple↗
PubMed2005

Real-time detection of Helicobacter Pylori infection and atrophic gastritis: comparison between conventional methods and a novel device for gastric juice analysis during endoscopy.

BACKGROUND AND STUDY AIMS: Gastric juice may represent a valuable source of clinicopathological information if properly analyzed. We evaluated the reliability and clinical validity of data obtained using an innovative device (the "Mt 21-42") that analyzes gastric juice, thus allowing the identification of Helicobacter pylori infection and atrophic gastritis of the oxyntic mucosa during endoscopy. METHODS: Validation studies were carried out to evaluate the measuring performance of the device. In addition, the H. pylori status and the presence of atrophic gastritis were assessed in 150 patients undergoing upper gastrointestinal endoscopy. In all these patients the Mt 21-42 device was used to assist endoscopy. Conventional tests (involving histology, urease testing, urea breath testing, anti- H. pylori IgG, serum gastrin, pepsinogen, intrinsic factor and parietal cells autoantibodies, vitamin B12, and folate) were also performed for comparison with the Mt 21-42 results. RESULTS: The measuring performance of the Mt 21-42 was good; for pH, the relative percent error and the coefficient of variation were 1.9 % +/- 4.2 and 1.3 %, respectively, and for ammonium they were 0.1 % +/- 0.2 % and 2.1 %. For the detection of H. pylori infection, the sensitivity and specificity of the device (96.7 % and 94.3 %) were similar to those of the urea breath test (90.5 % and 93.3 %) and serology (87.1 % and 88.8 %), and higher than those of the urease test (78.6 % and 98.7 %; P < 0.01) and routine histology (94.3 % and 76.3 %; P < 0.05). When compared with the currently available standard methods, use of the Mt 21-42 was found to be the most sensitive technique for the detection of atrophy (94.7 % vs. 5.3 % - 47.4 %; P < 0.001); the device failed to detect the disease in only one case (5 %), whereas failure rates of 53 % - 95 % were reported with the conventional methods. CONCLUSION: Atrophic gastritis of the oxyntic mucosa is a risky condition that often goes undetected in current clinical practice. The Mt 21-42 is an effective, useful, and desirable tool that may help to overcome this diagnostic limitation; it produces time and cost savings and also allows the detection of H. pylori infection.

Adolescent↗
PubMed2003

Sjögren reticular dystrophy of the retinal pigment epithelium: a case report.

PURPOSE: To describe the clinical manifestations in a patient with Sjögren reticular dystrophy of the retinal pigment epithelium, and the evolution of the disease over a 20-year follow-up period. CASE REPORT: A 45-year-old woman with Sjögren reticular dystrophy of the retinal pigment epithelium was seen for the first time in 1983; the patient underwent 20 years of annual check-ups. RESULTS: Over the follow-up period, fundus photographs, computerized perimetry, electroretinogram, and electro-oculogram findings had either normal or slightly subnormal outcome. CONCLUSIONS: The results confirm that this disease involves only the retinal pigment epithelium and should not be considered a central tapeto-retinal degeneration or late onset retinopathy.

Electrooculography↗
PubMed2002

Home care for chronic respiratory failure in children: 15 years experience.

BACKGROUND: Advances in paediatric intensive care have reduced mortality but, unfortunately, one of the consequences is an increase in the number of patients with chronic diseases. It is generally agreed that home care of children requiring ventilatory support improves their outcomes and results in cost saving for the National Health Service. METHODS: Since 1985, the Children's Hospital Bambino Gesù of Rome has developed a program of paediatric home care. The program is performed by a committed Home Health Care Team (HHCT) which selects the eligible patients for home care and trains the families to treat their child. During the period January 1985 to January 2001, 53 children with chronic respiratory failure were included in the home care program. Of these, seven patients were successively excluded and six died in our intensive care unit (ICU), while one still lives in our ICU since 1997. The results obtained in the remaining 46 children are reported. RESULTS: The pathologies consisted of disorders of respiratory control related to brain damage (26%), upper airways obstructive disease (26%), spinal muscular atrophy (22%), myopathies and muscular dystrophies (6.5%), bronchopulmonary dysplasia (6.5%), tracheomalacia (6.5%), central hypoventilation syndrome (4.3%) and progressive congenital scoliosis (2.2%). Of these 46 patients, 34 children are mechanically ventilated and the median of their ICU stay was 109.5 days (range 54-214 days), while the remaining 12 children were breathing spontaneously and the median of their ICU stay was 90.5 days (range 61-134 days). We temporarily readmitted six patients to our ICU to perform scheduled otolaryngological surgery, eight patients for acute respiratory infections and two patients for deterioration of their neurological status due to high pressure hydrocephalus for placement of a ventriculoperitoneal shunt; these 16 patients were discharged back home again. Two other patients were readmitted for deterioration of their chronic disease and died in our ICU, while seven patients died at home. CONCLUSIONS: Thirty-seven children are still alive at home and four of them improved their respiratory condition so that it was possible to remove the tracheostomy tube. Our oldest patient has now achieved 15 years of mechanical ventilation at home.

Child↗
PubMed2001

Pharmacokinetic evaluation of oral levofloxacin in human immunodeficiency virus-infected subjects receiving concomitant antiretroviral therapy.

The purpose of this study was to evaluate the pharmacokinetics (PK) profile of oral levofloxacin in human immunodeficiency virus-positive patients in steady-state treatment with nelfinavir (NFV) or with efavirenz (EFV) and to determine the effects of levofloxacin on the PK parameters of these two antiretroviral agents. For levofloxacin, plasma samples were obtained at steady state during a 24-h dosing interval. Plasma NFV and EFV concentrations were evaluated before and after 4 days of levofloxacin treatment. Levofloxacin PK do not seem affected by NFV and EFV. There was no significant difference between NFV and EFV plasma levels obtained with and without levofloxacin.

Administration, Oral↗
PubMed2000

N-acetyl-glucosaminidase (NAG) excretion in partially obstructed weanling rats.

The understanding of pathophysiology of obstructed uropathy has been facilitated by animal models with partial ureteric obstruction. Some studies on partially obstructed adult rats have drawn attention to a biphasic pattern of obstructive uropathy: an initial 'destructive' phase and a 'steady' phase in which renal deterioration no longer occurs and in which relief of obstruction would be of no advantage. We aimed to verify if this pattern applies also to younger (weanling) rats with more immature kidneys, resembling those of the human fetus. We measured the NAG-values in the urine samples of partially obstructed animals at different intervals of obstruction and in those of controls. The biphasic pattern proved to be the same as in adult rats as was previously documented, but the turning point occurred earlier (between 10 and 15 days of obstruction). Furthermore, there is evidence of low level values of N-Acetyl-Glucosaminidase (NAG) in the early phase of obstruction (5 days), demonstrating that the increase of tubular enzyme is not due to the operation itself. There is evidence that, if the 'destructive' phase can be precisely identified by biochemical studies, this could help identifying those subjects who could benefit from relief of obstruction.

Acetylglucosaminidase↗
PubMed2000

Attenuation of the "white-coat effect" by antihypertensive treatment and regression of target organ damage.

This study assessed whether 2 common surrogate measures of the "white-coat effect," namely the clinic-daytime and the clinic-home differences in blood pressure (BP), were attenuated by long-term antihypertensive treatment and whether this attenuation is relevant to the treatment-induced regression of left ventricular hypertrophy, thus having clinical significance. We considered data from 206 patients with essential hypertension (aged 20 to 65 years) who had a diastolic BP between 95 and 115 mm Hg and echocardiographic evidence of left ventricular hypertrophy. In each patient, clinic BP, 24-hour ambulatory BP, and left ventricular mass index were assessed at baseline, after 3 and 12 months of treatment with an angiotensin-converting enzyme inhibitor, and after a final 4-week placebo run-off period. At baseline, the clinic-daytime differences in systolic and diastolic BP were 12.1+/-15.4 and 6.8+/-10.1 mm Hg, respectively; the corresponding values for the clinic-home differences were 5.7+/-10.6 and 2.9+/-6.1 mm Hg, respectively. These differences were reduced by 57.6% and 77.1% (P<0.01) and by 65.7% and 64.3% (P<0.01), respectively, after 12 months of treatment, with a partial return toward the pretreatment differences after the final placebo period. The observed treatment-induced reductions in left ventricular mass index and those in the clinic-daytime or clinic-home differences for systolic and diastolic BP showed no significant relationship when tested by multiple regression analysis. This provides the first longitudinal evidence that clinic-daytime and clinic-home differences in BP have no substantial value in predicting the regression of target organ damage, such as left ventricular hypertrophy, that has prognostic relevance.

Adult↗
PubMed2000

[PCA in the control of acute and chronic pain in children].

BACKGROUND: This study was undertaken to verify the efficacy and safety of patient controlled analgesia (PCA) in preschool and older than 6 years children with acute postoperative and chronic oncologic pain. METHODS: Sixty-two children, aged 4-17 yr, with postoperative (n = 37) or chronic (n = 25) pain received PCA with morphine at the following dosages: bolus = 10-20 gamma kg-1; starter dose = 10-30 gamma kg-1; background infusion = 10-50 gamma kg-1 h-1. Lockout was 5 to 15 minutes. In some children with oncologic pathology adjuvant drugs were also used. RESULTS: Analgesia was considered satisfactory in all children, while a mild sedation was observed only in two children. PCA was also successfully used in preschool children (11%), aged 4 to 6 yr. Side effects were observed in 8 patients, but only in one of them a transient respiratory depression was recorded. The mean PCA duration was 5.3 +/- 5.5 days (min.2; max 24). CONCLUSIONS: These results indicate that PCA is an effective and safe method to control acute postoperative pain as well as to manage chronic oncologic pain in children.

Acute Disease↗
PubMed1999

Bronchoalveolar lavage in children with chronic diffuse parenchymal lung disease.

The aim of the present study was to compare cellular and noncellular components of bronchoalveolar lavage fluid (BAL) in a group of children with a diagnosis of chronic diffuse parenchymal lung disease (cDPLD) and a group of children without parenchymal lung disease undergoing BAL for various clinical indications (control group). We evaluated cellular and non-cellular components (total proteins, albumin, hyaluronic acid, and fibronectin) in BAL fluid from 14 children (7 boys and 7 girls; mean age 9.2 years, range 5 months to 18.4 years) fulfilling the clinical and radiological diagnosis of chronic cDPLD, and in 19 controls without evidence of lung disease. The 14 patients were assigned to two study groups: early-stage cDPLD (6 patients; age range 5 months to 5.2 years; duration of illness, 5-7 months) and long-standing cDPLD (8 patients; age range 9.6-18.4 years; duration of illness, 1.2-17.6 years). Ninety-three percent of the patients with cDPLD had at least two BAL constituents outside normal limits, with high numbers of cells, including all types of alveolar cells, but especially lymphocytes and foamy macrophages. These findings indicate a mixed, predominantly lymphocytic alveolitis. Our patients also had a significant increase in two noncellular BAL components, namely fibronectin and hyaluronic acid. BAL samples from children with long-standing cDPLD contained increased numbers of lymphocytes, whereas samples from children with early-stage cDPLD contained increased percentages and numbers of foamy macrophages and increased concentrations of fibronectin, hyaluronic acid, and albumin. In conclusion, we clearly identified an abnormal BAL profile in our group of cDPLD patients. Moreover, BAL findings differentiated younger cDPLD patients in the early stages of their illness from old patients with long-standing disease.

Adolescent↗
PubMed1999

[Anesthetics management in patients with epidermolysis bullosa].

The anesthetic management used in a 4-yr-old boy with dystrophic epidermolysis bullosa (DEB) submitted to long-lasting urological surgery is reported. Medical treatment of cutaneous bullae in various stages of healing was undertaken preoperatively. Other preoperative therapies were performed to treat sepsis and to improve poor nutritional state. Different measures were used during monitoring and inhalation induction and maintenance of anesthesia in order to prevent frictional trauma to the skin and oropharyngeal mucosa, leading to blistering. Anesthesia and surgery proceeded uneventfully, while surgical complications and sepsis occurred postoperatively. However the patient was discharged from intensive care unit to surgical ward on 35 postoperative days without evidence of oropharyngeal bullae and with a good improvement of his cutaneous condition. The conclusions are drawn that, even if the patient with DEB represents a challenge to the anesthesiologist, a long-lasting surgical intervention can be performed successfully. The main aspect in the anesthetic management of these patients is the detailed knowledge of all problems that anesthesiologist must face and solve to preserve skin and mucosa integrity, avoiding the risk of severe complications.

Anesthesia, General↗
PubMed1998

Acute hydrocephalus as a consequence of mumps meningoencephalitis.

Aqueductal stenosis can result from mumps meningoencephalitis. We report a case of acute hydrocephalus from an aqueductal stenosis developed immediately after a clinically evident mumps infection. The patient, aged two years, was treated with an antiedema therapy, and a ventriculoperitoneal shunt was placed. His clinical conditions rapidly improved. Only mumps virus was found in his cerebrospinal fluid culture. This case probably represents the earliest hydrocephalus from mumps, among those reported in the literature.

Acute Disease↗
PubMed1998

A prospective, randomized clinical comparison of sevoflurane and halothane in children.

BACKGROUND: The goal of the present multicenter investigation was to compare in a prospective and randomized study the induction, the maintenance and the recovery characteristics of halothane and sevoflurane when used in paediatric patients. METHODS: With the approval of the Ethical Committee and the parental written informed consent, 64 children aged 3-12 years, receiving general anaesthesia for urological, abdominal, and orthopaedic surgery, were studied. After oral flunitrazepam (0.05 mg kg-1), general anaesthesia was randomly induced by either sevoflurane (start: 1%, maximum: 7%, n = 32) or halothane (start: 0.5%, maximum: 4.5%, n = 32) and a 60% N2O in oxygen mixture until the loss of eyelash reflex (induction time). Then the trachea was intubated (if necessary, a muscle relaxant was administrated), and the concentrations of the anaesthetic vapours were adjusted in order to maintain cardiovascular stability until the end of surgery. The following times were recorded: time of extubation, time for having purposeful movements, time of eyes opening and readiness for discharge from the recovery area, as well as the occurrence of untoward events during either induction of, maintenance of, or recovery from anaesthesia. Before surgery and 24 hr after the procedure, blood was collected in order to measure serum creatinine and BUN. RESULTS: No differences in induction time, extubation time, side effects and postoperative renal function were observed between the two groups. Four patients in each group received muscle relaxants to perform intubation (p = NS). When compared to halothane group, children receiving sevoflurane had shorter times of showing purposeful movements (median: 9 min versus 15.5 min, p < 0.005), emergence from anaesthesia (median: 12 min versus 18 min, p < 0.05) and achieving readiness to be discharged (median: 18 min. versus 30 min, p < 0.005). Sevoflurane group also showed a more stable heart rate during the induction period than halothane one (p = 0.05). DISCUSSION: Sevoflurane is as effective as halothane in providing smooth and rapid induction of anaesthesia, while recovery is considerably faster and haemodynamic tolerance is better if compared to halothane; this suggests that sevoflurane could be an useful substitute for halothane in pediatric patients.

Adolescent↗
PubMed1998

[An evaluation of the carotid bifurcation and of the intracranial circle by angio-spiral computed tomography].

INTRODUCTION: Some clinical trials (NASCET, ECTS) have assessed that carotid endarterectomy is protective against stroke in patients with asymptomatic severe carotid stenosis. In order to decrease costs and risks, new diagnostic tools have been developed, such as Magnetic Resonance Angiography (MRA), duplex Ultrasound (US) and more recently Spiral Computed Tomography Angiography (CTA). CTA provides excellent 3D angiography images of the extracranial vessels using a volume rendering technique. This study was aimed at prospectively evaluating the accuracy of CTA in the diagnosis of carotid bifurcation. The circle of Willis was also studied during the same bolus injection. DSA was used as the gold standard technique. Surgery was also used for comparison. MATERIAL AND METHODS: Spiral CTA and DSA were performed in 106 carotid bifurcations. DSA was performed in all patients within 48-72 hours of CTA. The degree of internal carotid stenosis was evaluated according to NASCET criteria. Degree of stenosis, presence of calcifications, ulcerations and tandem lesions were reviewed by two different neuroradiologists blinded to each other and to the results of the other technique. In 19 cases the size of residual lumen of the ICA was surgically evaluated and correlated with CTA. RESULTS: There was an overall correlation between CTA and DSA in 94% of cases. Our data are in agreement with the results of the current literature. CT angiograms overrated by one category 6 cases (25%) of mild and one of moderate stenosis (7.14%). Calcifications were seen on spiral CT angiography in 69 (65.09%) carotid bifurcations while DSA detected the presence in 31 (29.24%). Ulcerations were missed by CTA in 3 cases. Five (4.71%) tandem lesions were visualized by DSA distal to bifurcation: 2 (1.88%) were also diagnosed by CTA. The patency of the circle of Willis was assessed in all cases. In 19 cases, the size of ICA stenosis evaluated at surgery was comparable with CTA findings. CONCLUSIONS: In conclusion CTA offers an outstanding alternative to catheter angiography in the evaluation of stenosis-occlusion of the carotid bifurcation. The intracranial circulation can be easily assessed by CTA as well, which allows the study of tandem lesions and of the circle of Willis.

Aged↗