PubMed Health⌕ Search

Biomedical subjects

C Bellini

Publications and source records attributed to C Bellini.

At least 19 recordsLinked to original sources
PubMed2002

Advanced technology for extracorporeal liver support system devices.

Acute Liver Failure (ALF) still presents high mortality rates, and liver transplant is the only treatment with proven efficacy. However transplant is not always possible and systems for Extracorporeal Liver Support (ELS) are being developed which can treat patients with ALF, for whom a transplant is not available, or is delayed. They can also treat patients with chronic liver disease who develop ALF. There are two types of ELS: artificial systems (hemoperfusion, plasmaperfusion, therapeutic plasma exchange, continuous hemodialysis and high volume continuous hemofiltration) and bioartificial systems. These are based on a biological component (animal or human hepatocytes) inserted into a bioreactor, whose main function is to perform the metabolic activity and synthesis that the liver can no longer perform. The results obtained in clinical trials have so far shown that the best results in terms of compensating for lost metabolic function and detoxification are obtained inserting artificial components in the bioartificial circuit.

Extracorporeal Circulation↗
PubMed2001

Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome.

We describe two newborn brothers with a pattern of malformation characterized by the persistence of Müllerian duct derivatives, intestinal lymphangiectasia, hypertrophied alveolar ridges, and early death. Postmortem examination showed the presence of a rudimentary uterus, fallopian tubes, the upper third of a vagina, a prostate of normal shape, a dilated colon, and generalized intestinal and pulmonary lymphangiectasia. The syndrome was first delineated by Urioste and co-workers [1993: Am J Med Genet 47:494-503]. These cases confirm the existence of a definite and distinct entity.

Abnormalities, Multiple↗
PubMed2001

Blood endothelin-1 levels before and after carotid endoarterectomy for atherosclerotic stenosis.

BACKGROUND: Elevated plasma levels of endothelin-1 (ET-1) have been reported in advanced atherosclerosis. Further in vivo demonstration of cause-effect relationship between atherosclerotic lesion and high levels of ET-1 needs to be carried out. The aim of this study was to determine whether circulating levels of ET-1 are influenced by removing haemodynamically significant atherosclerotic stenosis in selected patients with mono or bilateral carotid atherosclerotic stenosis. METHODS: Cubital venous ET-1-immunoreactive (IR) levels were measured in 20 patients: 11 (mean age+/-S.D. 63.1+/-5.36 years; range 53-70 years) were affected by monolateral, and nine patients (mean age+/-S.D. 64.7+/-9.8 years; range 52-78 years) by bilateral extracranial carotid artery atherosclerotic stenosis. ET-1-IR levels were evaluated before and 7 days after monolateral surgical endoarterectomy. Pre-surgery levels of ET-1-IR were compared with those obtained from 18 healthy younger volunteers (mean age+/-S.D. 27.8+/-2.7 years; range 20-50 years). FINDINGS: The mean cubital venous levels of ET-1-IR in the atherosclerotic patients before endoarterectomy (mean+/-S.D. 4.50+/-3.35 pg/ml; range 1.28-10.66 pg/ml) were significantly higher than those observed in healthy subjects (mean+/-S.D. 0.641+/-0.137 pg/ml; range 0.36-1.02 pg/ml) (P=0.000). The mean ET-1-IR level decreased significantly after endoarterectomy in the group of patients with monolateral stenosis (pre-surgery: mean+/-S.D. 4.35+/-3.11 pg/ml; range 1.28-10.66 pg/ml; post-surgery: mean+/-S.D. 3.05+/-2.94 pg/ml, range 0.28-8.86 pg/ml) (P=0.005), but not in patients with bilateral extracranial carotid stenosis submitted to monolateral endoarterectomy (pre-surgery: mean+/-S.D. 4.77+/-3.79 pg/ml; range 2.18-10.3 pg/ml; post-surgery: mean+/-S.D. 4.60+/-3.70 pg/ml; range 2.20-11.10 pg/ml). INTERPRETATION: The removal of a haemodynamically significant atherosclerotic vascular stenosis is associated with a decrease in the circulating ET-1-IR levels 7 days after surgery when haemodynamically significant atherosclerotic lesions are absent.

Aged↗
PubMed2001

FKBPs: at the crossroads of folding and transduction.

FK506-binding proteins (FKBPs) belong to the large family of peptidyl-prolyl cis-trans isomerases, which are known to be involved in many cellular processes, such as cell signalling, protein trafficking and transcription. FKBPs associate into protein complexes, although the involvement and precise role of their foldase activity remain to be elucidated. FKBPs represent a large gene family in plants that is involved in growth and development. Disruption of genes encoding FKBPs in plants and animals has underlined the importance of this family of proteins in the regulation of cell division and differentiation.

Adenosine Triphosphatases↗
PubMed2001

A randomised control study comparing the Infant Flow Driver with nasal continuous positive airway pressure in preterm infants.

OBJECTIVE: To compare the effectiveness of the Infant Flow Driver (IFD) with single prong nasal continuous positive airway pressure (nCPAP) in preterm neonates affected by respiratory distress syndrome. DESIGN: Randomised controlled study. PATIENTS: Between September 1997 and March 1999, 36 preterm infants who were eligible for CPAP treatment were randomly selected for either nCPAP or IFD and studied prospectively for changes in oxygen requirement and/or respiratory rate. The requirement for mechanical ventilation, complications of treatment, and effects on mid-term outcome were also evaluated. RESULTS: Use of the IFD had a significantly beneficial effect on both oxygen requirement and respiratory rate (p < 0.0001) when compared with nCPAP. Moreover, O(2) requirement and respiratory rate were significantly decreased by four hours (p < 0.001 and p < 0.03 respectively). The probability of remaining supplementary oxygen free over the first 48 hours of treatment was significantly higher in patients treated with the IFD than with nCPAP (p < 0.02). IFD treated patients had a higher success (weaning) rate (94% v 72 %) and shorter duration of treatment (49.3 (31) v 56 (29.7) hours respectively; mean (SD)), although the difference was not significant. CONCLUSIONS: IFD appears to be a feasible device for managing respiratory distress syndrome in preterm infants, and benefits may be had with regard to oxygen requirement and respiratory rate when compared with nCPAP. The trend towards reduced requirement for mechanical ventilation, shorter clinical recovery time, and shorter duration of treatment requires further evaluation in a multicentre randomised clinical trial.

Female↗
PubMed2001

Branchio-Oto-renal syndrome: a report on nine family groups.

This study reviews nine new families with branchio-oto-renal (BOR) syndrome (Online Mendelian Inheritance in Man [OMIM] 113650). Diagnosis was made by studying 10 index cases, and then 22 other previously undetected patients were diagnosed within the nine families. The syndrome consists of conductive, sensorineural, or mixed hearing loss; preauricular pits; structural defects of the outer, middle, or inner ear; renal anomalies; lateral cervical fistulas, cysts, or sinuses; and/or nasolacrimal duct stenosis or fistulas. In our study, all patients first diagnosed in each familial group were recognized on the basis of severe renal anomalies associated with at least one of these symptoms. Our study showed that BOR syndrome is a misdiagnosed disorder, usually recognized in the presence of severe renal failure but often not diagnosed, especially in the adult in the presence of other isolated clinical signs, such as mild branchial or urological anomalies. We stress the meticulous search we performed for renal anomalies and/or hearing loss in all subjects showing minimal signs of branchial defects. BOR syndrome should be suspected in all cases of isolated urological anomalies, even if no other signs of the syndrome are present. After BOR syndrome has been diagnosed in a patient, all family members should be examined for the presence of the syndrome, even if there are only minimal stigmata of the disease.

Branchio-Oto-Renal Syndrome↗
PubMed2000

The SUR2 gene of Arabidopsis thaliana encodes the cytochrome P450 CYP83B1, a modulator of auxin homeostasis.

Genetic screens have been performed to identify mutants with altered auxin homeostasis in Arabidopsis. A tagged allele of the auxin-overproducing mutant sur2 was identified within a transposon mutagenized population. The SUR2 gene was cloned and shown to encode the CYP83B1 protein, which belongs to the large family of the P450-dependent monooxygenases. SUR2 expression is up-regulated in sur1 mutants and induced by exogenous auxin in the wild type. Analysis of indole-3-acetic acid (IAA) synthesis and metabolism in sur2 plants indicates that the mutation causes a conditional increase in the pool size of IAA through up-regulation of IAA synthesis.

Alleles↗
PubMed2000

AGO1, QDE-2, and RDE-1 are related proteins required for post-transcriptional gene silencing in plants, quelling in fungi, and RNA interference in animals.

Introduction of transgene DNA may lead to specific degradation of RNAs that are homologous to the transgene transcribed sequence through phenomena named post-transcriptional gene silencing (PTGS) in plants, quelling in fungi, and RNA interference (RNAi) in animals. It was shown previously that PTGS, quelling, and RNAi require a set of related proteins (SGS2, QDE-1, and EGO-1, respectively). Here we report the isolation of Arabidopsis mutants impaired in PTGS which are affected at the Argonaute1 (AGO1) locus. AGO1 is similar to QDE-2 required for quelling and RDE-1 required for RNAi. Sequencing of ago1 mutants revealed one amino acid essential for PTGS that is also present in QDE-2 and RDE-1 in a highly conserved motif. Taken together, these results confirm the hypothesis that these processes derive from a common ancestral mechanism that controls expression of invading nucleic acid molecules at the post-transcriptional level. As opposed to rde-1 and qde-2 mutants, which are viable, ago1 mutants display several developmental abnormalities, including sterility. These results raise the possibility that PTGS, or at least some of its elements, could participate in the regulation of gene expression during development in plants.

Amino Acid Sequence↗
PubMed2000

FACKEL is a sterol C-14 reductase required for organized cell division and expansion in Arabidopsis embryogenesis.

In flowering plants, the developing embryo consists of growing populations of cells whose fates are determined in a position-dependent manner to form the adult organism. Mutations in the FACKEL (FK) gene affect body organization of the Arabidopsis seedling. We report that FK is required for cell division and expansion and is involved in proper organization of the embryo. We isolated FK by positional cloning. Expression analysis in embryos revealed that FK mRNA becomes localized to meristematic zones. FK encodes a predicted integral membrane protein related to the vertebrate lamin B receptor and sterol reductases across species, including yeast sterol C-14 reductase ERG24. We provide functional evidence that FK encodes a sterol C-14 reductase by complementation of erg24. GC/MS analysis confirmed that fk mutations lead to accumulation of intermediates in the biosynthetic pathway preceding the C-14 reductase step. Although fk represents a sterol biosynthetic mutant, the phenotype was not rescued by feeding with brassinosteroids (BRs), the only plant sterol signaling molecules known so far. We propose that synthesis of sterol signals in addition to BRs is important in mediating regulated cell growth and organization during embryonic development. Our results indicate a novel role for sterols in the embryogenesis of plants.

Amino Acid Sequence↗
PubMed2000

[Neonatal hemochromatosis: significance of early identification].

Neonatal hemochromatosis (NH) is a rare clinical-pathologic entity defined by severe neonatal liver failure (NLF) of intrauterine onset associated with extrahepatic siderosis that spares reticuloendothelial elements. Whether this entity is the result of a distinct disease process or is the pathologic end-result of many other forms of NLF remains to be assessed. Death from multisystem organ failure usually occurs in the first few days or weeks of life. We report two sisters with neonatal hemochromatosis with different outcome. The first died at 21 days of life for multiorgan failure and sepsis. The second was diagnosed and treated very early by aggressive support with fresh-frozen plasma, packed red cells, platelets, coagulation factors, diuretics, and pressors, and she is well at 2-year-follow-up. The few therapeutic options are discussed. In general, few patients survived NH. Among patients treated only by medical approachs and that did not undergo orthotopic liver transplantation (OLTX), favorable outcome is only very rarely reported. For management of NH infants early recognition of the disease is critical. Our experience seems to suggest that as early is the start of treatment as high is the possibility of survival. At this moment very early aggressive supportive treatment should appear to be the most useful approach to stabilize the patient hoping in spontaneous liver recovery, or, in turn, to permit OLTX before septic complications bring to clinical decline.

Female↗
PubMed1999

Diagnosis of neonatal hemochromatosis with MR imaging and duplex Doppler sonography.

Neonatal hemochromatosis is a rare congenital disorder which affects both fetuses and newborns. It is characterized by hepatocellular failure, often appearing on the first day of life in the form of coagulopathy, hypoalbuminemia, hypoglycemia, and jaundice. Most of the affected infants die early in life, and definitive diagnosis has often been made only by post-mortem evaluation. With the help of MRI, plus increasing awareness of the disorder, diagnosis is now often made early, even in utero. Duplex Doppler sonography does not provide information on siderosis but shows abnormalities in the liver or blood-flow patterns associated with liver disease.

Biopsy↗
PubMed1999

Decreased activity of the red blood cell ATPase-dependent Na+ pump in patients with cardiac syndrome X.

Marked Na(+)/Li(+) countertransport hyperactivity and post-load hyperinsulinaemia have been described in 93% of patients with cardiac syndrome X. We hypothesized that more complex abnormalities in Na(+) traffic across the cell membrane are present in these patients. The aim of the present study was to evaluate the activities of the two main transporters responsible for transmembrane Na(+) transport, i.e. the ATPase-dependent Na(+) pump and the Na(+)-K(+)-2Cl(-) co-transporter, in a selected group of patients with cardiac syndrome X. We evaluated 19 patients with cardiac syndrome X and 14 control subjects. The ATPase-dependent Na(+) pump and Na(+)-K(+)-2Cl(-) co-transport activities were assessed from Na(+)-loaded red blood cells by using nystatine, in the presence of furosemide and ouabain, as appropriate. Erythrocyte Na(+)/Li(+) countertransport activity, serum lipid and post-load (75 g of oral glucose) insulin levels were also evaluated. The V(max) of Na(+)/Li(+) countertransport (P=0.0001) and post-load insulin levels (120 min; P=0.001) were confirmed to be higher in patients with syndrome X than in controls. The V(max) of Na(+)-K(+)-2Cl(-) co-transport was similar in patients and controls. By contrast, the V(max) of the ATPase-dependent Na(+) pump was significantly lower (P=0.002) in syndrome X patients (3.13+/-0.87 mmol.h(-1).l(-1)) than in controls (4.28+/-1.10 mmol.h(-1).l(-1)). Serum total cholesterol and triacylglycerol concentrations were also higher in patients with syndrome X than in control subjects (P<0.0001). Thus decreased activity of the ATPase-dependent Na(+) pump was present in patients with cardiac syndrome X. Such an abnormality has the biological potential to augment microvascular tone and the response to constrictor stimuli via increased intracellular free Ca(2+). Of note, syndrome X patients also manifested Na(+)/Li(+) countertransport hyperactivity which, in turn, is known to induce peripheral insulin resistance and consequent abnormalities in insulin secretion and lipid turnover. Thus cardiac syndrome X appears as a multifaceted syndrome presenting with either metabolic or cardiovascular symptoms, or both, based on the expression of complex abnormalities in Na(+) traffic across the cell membrane.

Adenosine Triphosphatases↗
PubMed1999

High plasma renin activity is combined with elevated urinary albumin excretion in essential hypertensive patients.

BACKGROUND: Several studies suggest that the hyperactivity of the circulating renin-angiotensin system might favor the progression of renal disease in essential hypertension. To elucidate this aspect, we investigated the relationship between plasma renin activity (PRA) and the urinary albumin excretion rate (UAER), an early marker of hypertension-related renal changes, in human essential hypertension. METHODS: Ninety nonobese, nondiabetic, nonhyperlipidemic patients with mild-to-moderate essential hypertension (67 males, 23 females; mean age 51.4 +/- 6.2 years) were divided into low renin (LR), normal renin (NR), and high renin (HR) subgroups according to individual PRA while they were on a constant NaCl intake (120 mmol NaCl/day). The UAER was assessed during the same NaCl intake. RESULTS: Data showed significantly higher UAER (31.3 +/- 12.9 microg/min) in HR (N = 30) than NR (N = 30, 22.7 +/- 14.4 microg/min, P < 0.02) and LR patients (N = 30, 21.7 +/- 10.8 microg/min, P < 0. 01). CONCLUSIONS: Our study demonstrates that the UAER is elevated in HR essential hypertensive patients, suggesting that high PRA accelerates the onset of early renal changes in human essential hypertension.

Adult↗
PubMed1999

Pneumocystis carinii pneumonia in human immunodeficiency virus (HIV)-positive and HIV-negative immunocompromised patients.

For 89 human immunodeficiency virus (HIV)-positive and 32 HIV-negative immunocompromised patients who had 121 episodes of Pneumocystis carinii pneumonia (PCP), clinical features and changes over time were compared. HIV-infected patients characteristically had a longer duration of symptoms (23 vs. 13 days; P<.005); were younger (39 vs. 48 years; P<.001); had a higher frequency of sweating, weight loss, and thoracic pain; and had fewer admissions to the intensive care unit (16% vs. 31%; P<.05). In addition, they had significantly higher hemoglobin levels, lower thrombocyte counts, lower C-reactive protein values, and a higher proportion of eosinophils and lymphocytes in bronchoalveolar lavage fluid. After 1995, HIV-negative patients' mean length of stay dropped from 34 days to 16 days (P<.005), and their hospital mortality rate dropped from 29% to 7% (P<.001). HIV-positive patients with PCP differed in several aspects from those without HIV infection. Knowledge gained from experience with treatment of opportunistic infections in patients with AIDS has improved the management of PCP in patients with other immunodeficiencies.

Acquired Immunodeficiency Syndrome↗