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Biomedical subjects

M Gentile

Publications and source records attributed to M Gentile.

At least 37 records · Page 2Linked to original sources
PubMed2005

Anoxic brain injury following near-drowning in children. Rehabilitation outcome: three case reports.

PRIMARY OBJECTIVE: To describe the outcome of near-drowning and rehabilitation contexts for recovery. METHODS AND PROCEDURES: Standardized measures were used to emphasize the functional impact of deficits over the first year post-injury in three children <2 years. Multimodal contexts for meaningful interplay were early adapted to the three cases. MAIN OUTCOMES AND RESULTS: The clinical pathways of recovery are identified. Initially all three cases manifested a generalized dystonia. Case 1 exhibited a good outcome with transient dyskinetic-dystonic syndrome; subsequently Bálint's syndrome emerged. In this case, the rehabilitation approach was organized on the pickup of direct perception of task-specific affordances. Cases 2 and 3 had poor outcomes presenting the worsening of torsion dystonia (status dystonicus) that hindered rehabilitation intervention. CONCLUSIONS: The dynamic reaggregation of spatial organization through meaningful interaction in specific ecological contexts is the principal goal of rehabilitation intervention. Status dystonicus represents the worst feature for recovery.

Brain Injuries↗
PubMed2005

Comparison of two protocols of conscious analgosedation in video-assisted talc pleurodesis.

AIM: Video-assisted thoracoscopy surgery (VATS) is classically performed using general anesthesia with a double-lumen endotracheal tube to allow collapse of the operated lung. However, according to our opinion, the risks of general anesthesia with one-lung ventilation could be accepted when major thoracic operation is planned, but it should be avoided or kept at minimum when performing less invasive procedures such as video-assisted talc pleurodesis. In this paper, 2 different protocols are described in order to demonstrate the effectiveness and safety of Monitored Anesthesia Care (MAC) for performing VATS talc pleurodesis. METHODS: We studied 65 neoplastic patients ASA III-IV who underwent video-assisted pleurodesis with talc nebulization. They were randomized into 2 homogenous groups: Group 1, received midazolam (0.015-0.030 mg/kg) and sufentanil (0.15-0.20 microg/kg); Group 2, received midazolam (0.15-0.2 mg/kg) and continuous remifentanil infusion 0.5-1 microg/kg/min in the first minute, followed by 0.05 microg/kg/min. Local anesthesia with 0.2% ropivacaine was employed before the thoracoscopic trocar was inserted in both groups. Intraoperative standard monitoring required ECG, heart rate, non-invasive blood pressure, transcutaneous carbon dioxide and oxygen saturation. Consciousness status has been evaluated by Ramsey scale, while pain intensity by VAS scale. RESULTS: No statistically significant fluctuations were observed for mean arterial pressure, heart rate, SpO(2), tCO(2), VAS and Ramsey score. No postoperative complications and hospital mortality occurred. CONCLUSIONS: Both the protocols offer an efficient control of analgosedation with a minimum incidence of intraoperative and postoperative side effects. Anyway, the titration of the drug is very important.

Adult↗
PubMed2005

[''Isolated'' single umbilical artery: incidence, cytogenetic abnormalities, malformation and perinatal outcome].

AIM: The aim of the study was to 1) evaluate the gestational age at diagnosis and the incidence of single umbilical artery in an unselected population of 3750 pregnant women; 2) identify its association with malformations and/or karyotype aberrations in pre/postnatal age; 3) evaluate the fetal-neonatal outcome; 4) investigate the likelihood that a fetus might be affected by a cytogenetic abnormality even in presence of an apparently ''isolated'' single umbilical artery. METHODS: Transabdominal ultrasound of the umbilical vessels and histological confirmation at birth. In presence of single umbilical artery an accurate prenatal ultrasound assessment, karyotyping (pre/postnatal), and clinical follow-up after birth were performed. RESULTS: The incidence of single umbilical artery in our population resulted 1.07% (40/3750), being ''isolated'' in 40% of cases. The diagnosis of chromosomal aberration associated with single umbilical artery was made in 6 cases (15%), while structural fetal abnormalities in absence of causal chromosomal anomalies were present in 9 cases (22.5%), with syndromic patterns in 3 of them. In 2 cases with chromosomal anomalies the single umbilical artery was apparently ''isolated'' at the ultrasound examination between the 17th and the 22nd week of gestation. Excluding 4 terminations of pregnancy, the perinatal mortality percentage resulted 25% (9/36); similarly, fetal growth retardation was present in 25% of cases (9/36). CONCLUSIONS: The incidence of single umbilical artery in our population confirms that this fetal vascular anomaly is frequently identified in pregnancy. In the light of our cases and data in the literature it is evident that diligent surveillance in prenatal age and accurate clinical follow-up after birth are mandatory when a single umbilical artery has been diagnosed. Finally, the possibility, even if rare, that even when the single umbilical artery is apparently ''isolated'', a chromosomal aberration might be present (1/24 of our ''isolated'' cases) should be considered when addressing correct counselling to the couples.

Chromosome Aberrations↗
PubMed2005

Invasive properties of multidrug resistant human melanoma cells.

Melanoma cells exhibit a high level of intrinsic or acquired resistance to the cytotoxic agents often associated with the over-expression of drug transporters such as P-glycoprotein (P-gp). In this in vitro study, we investigated the possible relationship between P-gp and CD44, the cell adhesion molecule involved in metastasis and tumor progression of melanoma cells. CD44 expression appeared to be similar in the parental sensitive M14 WT cells and in their resistant counterparts M14 ADR cells. Double-labeling of cryosectioned cells showed that P-gp and CD44 were transported from the synthesis loci to the cell periphery by different vesicles and began to coalesce in proximity of the plasma membrane; thus, P-gp and CD44 seemed to reach together the cell surface. Moreover, P-gp and CD44 appeared to be associated with ERM proteins. The invasive activities of both M14 WT and M14 ADR cells were analyzed by the "transwell chamber invasion" assay. M14 WT cells revealed low capacity to traverse the filters, both in the absence (motility) and in the presence (invasion) of a Matrigel coating. In comparison, M14 ADR cells displayed significantly higher motility and invasion. SEM observations showed that sensitive cells employed lamellar cytoplasmic extrusions to pass through the filter pores whereas resistant cells elongated along the hole through globular processes. In conclusion, the results herein reported suggest that drug resistance in melanoma cells appears associated with a more aggressive behaviour. P-gp and CD44 might cooperate to confer this more invasive phenotype.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
PubMed2004

Cervical artery dissection: a 5-year prospective study in the Belluno district.

BACKGROUND: Artery dissection is an unusual cause of ischemic stroke, particularly frequent among young patients. The aim of this study was to collect epidemiological data on artery dissection in a hospital-based community, set up a diagnostic protocol and discover outcome predictors. METHODS: Among patients suffering from cerebral infarction resident in our country, those with clinical and radiological features suggestive of artery dissection were selected. Risk factors, investigative techniques and treatment were evaluated. Patients were subjected to clinical examinations and were regularly tested neuradiologically. RESULTS: Out of 895 ischemic stroke patients, 10 patients with cervical artery dissection (1.1%) were found. Seven patients were treated with anticoagulants and 3 received antiplatelet agents. One posttraumatic artery dissection patient died within a few days of the stroke. None of the patients suffered from a recurrence, while serious disability occurred in 4 of them. CONCLUSIONS: Artery dissection should be suspected in any cerebral infarction patient, especially in young patients without risk factors for cerebrovascular diseases. The treatment of choice consists of anticoagulants. An early clinical diagnosis, strongly supported by radiological tests, is mandatory to start the proper treatment and achieve the best possible outcome.

Adult↗
PubMed2004

Clinical, cytogenetic, and molecular characterization of a patient with a de novo interstitial 22q12 duplication.

We report a 19-year-old woman with minor craniofacial anomalies, mild mental retardation, and foramina parietalia permagna (FPP) (OMIM 168500). Cytogenetic analysis showed a de novo interstitial chromosome 22 long arm duplication. FISH with a panel of chromosome 22q12-q13 bands-specific BAC clones refined the cytogenetic investigation, and restricted the duplicated segment to the q12 region. Mutation analysis of FPP genes identified an insertion mutation in the ALX4 gene (344insC) in the proband and her father with loss of function of the gene. The patient's phenotype is considered in the light of the results of the cytogenetic, FISH, and molecular investigations, and her features are compared with those of other patients with similar duplications. Finally, variable phenotypic findings due to different 22q duplicated chromosomal segments are discussed. Our report indicates that 22q12 interstitial duplications are associated with craniofacial anomalies and mild mental retardation, while life threatening malformations are usually not present. Although these phenotypic changes are common and non-specific, molecular study of our patient established more precise relationships between clinical findings and 22q duplicated region(s). This approach fosters better counseling of the families of patients with newly diagnosed, similar duplications.

Abnormalities, Multiple↗
PubMed2004

Characteristics, associations and outcome of absent pulmonary valve syndrome in the fetus.

OBJECTIVES: To assess in a population of 21 fetuses diagnosed with absent pulmonary valve syndrome (APVS) the accuracy of prenatal diagnosis, the incidence of extracardiac and chromosomal anomalies and the perinatal outcome. METHODS: This was a retrospective observational study of 21 fetuses with a confirmed diagnosis of APVS. All of them underwent fetal echocardiography and a detailed anatomical scan. Karyotyping was performed in 20/21 cases, with fluorescent in-situ hybridization analysis to detect the 22q11 microdeletion performed in 16/21 cases. The following variables were retrieved from databases and evaluated: indication for referral, gestational age at diagnosis, presence of cardiomegaly, branch pulmonary dilatation, associated anomalies or intrauterine growth restriction, and fetal/neonatal outcome. Autopsy reports and postnatal surgical/medical files were available for confirmation in all cases. RESULTS: Prenatal diagnosis of APVS proved correct in all cases, with only three cases occurring not in association with tetralogy of Fallot. Additional cardiovascular anomalies were present in five cases (24%). Extracardiac anomalies were found in nine cases (42.8%), and were associated with chromosomal anomalies in five cases (24%). The 22q11 microdeletion was present in 4/16 cases (25%). Fetal/neonatal outcome was as follows: nine terminations of pregnancy, three intrauterine deaths, six postnatal deaths. The remaining three (14.3%) neonates were alive after surgery. Cardiomegaly and marked branch pulmonary dilatation were present in 16 and 15 cases, respectively, and were associated with bronchomalacia in virtually all cases. CONCLUSIONS: APVS can be reliably diagnosed and characterized prenatally. The association with major chromosomal anomalies or 22q11 microdeletion is consistent with previous findings. The relatively poor survival rate is due to the high rate of terminations, associated genetic anomalies and bronchomalacia. Bronchomalacia is present in the overwhelming majority of cases featuring cardiomegaly and marked branch pulmonary dilatation.

Chromosome Disorders↗
PubMed2004

[Guidelines for the management of HCV infection in HIV-infected patients. Istituto Nazionale per le Malattie Infettive Lazzaro Spallanzani].

It is crucial to ensure an optimal clinical management of HCV infection in HIV-co-infected persons. The reasons for the development of guidelines on HCV-infection treatment in HIV-infected persons arise from the need for a standardised management of HIV/HCV coinfection in our Institute. The aim of these guidelines are: to clarify principles of clinical management of HCV infection in HIV-infected patients to care-providers; to improve the awareness of HIV-infected patients cared for our Institute on current management of HCV infection; to improve the quality of care on this topic. These guidelines, based on Evidence based Medicine principles, have been developed by a panel of experts, who conducted a systematic review of the literature, mainly taking into account current international recommendations. In the present document, the most frequent clinical presentation occurring in the management of HIV/HCV co-infected patients at our Institution are discussed. The adherence to present guidelines and their effectiveness at our Institution, outcome indicators will be evaluated. The present guidelines cannot entirely substitute the judgement of an expert clinician. However, adherence to these guidelines will contribute to the improvement of the standard of care of HIV/HCV-co-infected persons.

Anti-HIV Agents↗
PubMed2003

FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.

We report a 24-year-old woman with minor facial anomalies, mental retardation, seizures, and partial agenesis of the corpus callosum. Cytogenetic analysis showed a de novo terminal chromosome 1 long arm deletion. FISH with a panel of chromosome 1q42-qter bands-specific BAC and YAC clones located the breakpoint at the 1q42-q43 junction, with monosomy restricted to the 1q43 and 1q44 bands. The changing craniofacial phenotype of this patient with age is described as part of the del(1)(q) syndrome natural history. The patient's features are compared with those of other patients with similar deletions, and variable phenotypic findings due to different deleted chromosomal segments are discussed.

Abnormalities, Multiple↗
PubMed2003

Antithyroid antibodies in the CSF: their role in the pathogenesis of Hashimoto's encephalopathy.

Antithyroid antibodies and circulating immune complexes (CIC) were found in the CSF of six patients with Hashimoto's encephalopathy (HE) but not in the CSF of 21 controls. The synthesis of autoantibodies and CIC was intrathecal and their titers were independent of the patients' clinical status or therapy. Their presence in the CSF of patients with acute or subacute encephalopathy may be useful in diagnosing HE.

Aged↗
PubMed2003

Second harmonic imaging improves trans-abdominal ultrasound detection of biliary sludge in 'idiopathic' pancreatitis.

BACKGROUND: Recently, biliary sludge has been strongly correlated with 'idiopathic pancreatitis'. It is often diagnosed by trans-abdominal ultrasonography, despite the low sensitivity of this investigation. New scanners, using second harmonic imaging, may improve the quality of the echographic picture. AIM: To verify the impact of this methodology on the detection of biliary sludge in patients with 'idiopathic' pancreatitis. METHODS: Fifty patients with 'idiopathic' pancreatitis observed over a 18-month period entered the study. Exclusion criteria were gall-bladder stones, polyps, clinical conditions related to biliary sludge development and haemolytic disorders. Patients were assessed blind by two operators using either conventional ultrasonography or second harmonic imaging. The parameters of diagnostic quality of both examinations were evaluated using, as the gold standard, microscopic examination of the gall-bladder content collected at endoscopy after cholecystokinin infusion. RESULTS: An improvement in sensitivity, specificity, efficiency and negative predictive value was obtained by second harmonic imaging compared with conventional ultrasonography. CONCLUSIONS: Second harmonic imaging, in our experience, is a reliable non-invasive tool for the diagnosis and follow-up of biliary sludge in the course of 'idiopathic' pancreatitis.

Acute Disease↗
PubMed2003

Molecular analysis of the VP7, VP4, VP6, NSP4, and NSP5/6 genes of a buffalo rotavirus strain: identification of the rare P[3] rhesus rotavirus-like VP4 gene allele.

We report the detection and molecular characterization of a rotavirus strain, 10733, isolated from the feces of a buffalo calf affected with diarrhea in Italy. Strain 10733 was classified as a P[3] rotavirus, as the VP8* trypsin cleavage product of the VP4 protein revealed a high amino acid identity (96.2%) with that of rhesus rotavirus strain RRV (P5B[3]), used as the recipient virus in the human-simian reassortant vaccine. Analysis of the VP7 gene product revealed that strain 10733 possessed G6 serotype specificity, a type common in ruminants, with an amino acid identity to G6 rotavirus strains ranging from 88 to 98%, to Venezuelan bovine strain BRV033, and Hungarian human strain Hun4. Phylogenetic analysis based on the VP7 gene of G6 rotaviruses identified at least four lineages and an apparent linkage between each lineage and the VP4 specificity, suggesting the occurrence of repeated interspecies transmissions and genetic reassortment events between ruminant and human rotaviruses. Moreover, strain 10733 displayed a bovine-like NSP4 and NSP5/6 and a subgroup I VP6 specificity, as well as a long electropherotype pattern. The detection of the rare P[3] genotype in ruminants provides additional evidence for the wide genetic and antigenic diversity of group A rotaviruses.

Alleles↗