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Biomedical subjects

F Cozzi

Publications and source records attributed to F Cozzi.

At least 19 recordsLinked to original sources
PubMed2006

Pathogenesis of apparent life-threatening events in infants with esophageal atresia.

Many infants with a repaired esophageal atresia (EA) undergo fundoplication, aortopexy, or glossopexy because the mechanisms most responsible for airway obstruction and/or apparent life-threatening event (AO/ALTE) syndrome are considered to be gastroesophageal reflux (GER), tracheal compression (TC), or obstructive apnea, respectively. In the present study, we investigated whether these mechanisms are independent or interrelated. We developed a database of 120 consecutive patients with EA treated by the senior author between 1967-2002. We studied the clinical manifestations of patients with a cervical esophagostomy and/or blind lower esophageal stump, which ruled out TC and/or proximal esophageal GER as a mechanism for AO/ALTE. Of 25 neonates who underwent section/ligation of lower tracheo-esophageal fistula and/or feeding gastrostomy, 10 critically ill neonates died. Of 15 survivors, 9 infants had a feeding gastrostomy without an esophagostomy. Of these, 6 infants presented one or more episodes of AO, and 8 presented ALTE with or without AO. Subsequently, 5 of the 9 infants underwent an esophagostomy. Eventually, 11 infants had a feeding gastrostomy with an esophagostomy. Of the latter, 5 infants presented one or more episodes of AO, and 6 presented ALTE without AO. In conclusion, oral feeding, proximal esophageal GER, and TC are not essential for AO/ALTE syndrome to occur. They are probably factors which offer evidence of an underlying problem with control of upper airway patency.

Bradycardia↗
PubMed2006

Bosentan therapy of pulmonary arterial hypertension in connective tissue diseases.

BACKGROUND: Pulmonary arterial hypertension (PAH) is a life-threatening and debilitating complication of several connective tissue diseases. We aimed to evaluate the effects of long-term treatment with bosentan, an oral dual endothelin ET(A)/ET(B) receptor antagonist, in a cohort of patients with PAH related to connective tissue diseases. MATERIALS AND METHODS: In the present prospective, noncontrolled study, 13 patients (nine with systemic sclerosis, two with systemic lupus erythematosus, one with mixed connective tissue disease and one with overlap syndrome including scleroderma and myositis), mostly nonresponders to prostanoids therapy, were treated for 1 year with bosentan. Cardiac haemodynamics and the diagnosis of PAH were performed by Doppler ultrasound examination. Exercise capacity was assessed by 6-min walking test at baseline and at 3, 6 and 12 months of therapy. RESULTS: During bosentan treatment, progressive improvement of exercise capacity was observed. Walk distance increased in seven patients, remained unchanged in three and slightly decreased in three patients. A progressive significant decrease of right ventricular systolic pressure was also observed, whereas pulmonary artery mean pressure remained unchanged. Adverse effects related to bosentan (elevation of hepatic aminotransferases) were noted in two patients. CONCLUSION: Long-term treatment with bosentan was effective in improving exercise capacity and pulmonary haemodynamics in patients with PAH related to connective tissue diseases.

Administration, Oral↗
PubMed2003

Dystrophic phenotype of canine X-linked muscular dystrophy is mitigated by adenovirus-mediated utrophin gene transfer.

Utrophin is highly homologous and structurally similar to dystrophin, and in gene delivery experiments in mdx mice was able to functionally replace dystrophin. We performed mini-utrophin gene transfer in Golden Retriever dogs with canine muscular dystrophy (CXMD). Unlike the mouse model, the clinicopathological phenotype of CXMD is similar to that of Duchenne muscular dystrophy (DMD). We injected an adenoviral vector expressing a synthetic utrophin into tibialis anterior muscles of newborn dogs affected with CXMD and examined transgene expression by RNA and protein analysis at 10, 30 and 60 days postinjection in cyclosporin-treated and -untreated animals. Immunosuppression by cyclosporin was required to mitigate the immune response to viral and transgene antigens. RT-PCR analysis showed the presence of the exogenous transcript in the muscle of cyclosporin-treated and -untreated animals. The transgenic utrophin was efficiently expressed at the extrajunctional membrane in immunosuppressed dogs and this expression was stable for at least 60 days. We found reduced fibrosis and increased expression of dystrophin-associated proteins (DAPs) in association with muscle areas expressing the utrophin minigene, indicating that mini-utrophin can functionally compensate for lack of dystrophin in injected muscles. For this reason, utrophin transfer to dystrophin-deficient muscle appears as a promising therapeutic approach to DMD.

Adenoviridae↗
PubMed2003

Radial artery pseudoaneurysm successfully treated by compression bandage.

In children, surgery for radial artery pseudoaneurysm (PA) may be followed by growth retardation of the hand because of inadequate blood flow. We believe this is the first report of a child with PA of the radial artery cured by compression bandage. Conservative management is a safe and valuable initial treatment option for uncomplicated radial PA.

Aneurysm, False↗
PubMed2003

[Changes in esophageal peristalsis in diverse clinical forms and antibody specificity in scleroderma: a scintigraphic study in 100 cases].

OBJECTIVE: To define the prevalence and severity of esophageal involvement in systemic sclerosis (SSc) and its relationship with the different clinical forms and ANA specificities of the disease. METHODS: A hundred consecutive patients with SSc, 48 with cutaneous limited, 26 with intermediate and 26 with diffuse form of disease, 49 with anti-centromere and 37 with anti-Scl70 ANA pattern, were submitted to scintigraphy using a semisolid orally ingested bolus to detect esophageal hypomotility. RESULTS: An impairment of esophageal function has been observed in 68% of SSc patients. Esophageal dysmotility was significantly more frequent and severe in patients with cutaneous diffuse and intermediate forms of SSc and with anti-Scl70 ANA pattern. CONCLUSIONS: Esophageal involvement is very common in SSc. The scintigraphy confirms to be a useful and non invasive diagnostic method; moreover it permits to quantify the severity of the esophageal dysmotility by analyzing both global and segmental function.

Adult↗
PubMed2002

Adult Henoch-Schönlein purpura with glomerulonephritis and paroxysmal nocturnal haemoglobinuria: an uncommon association.

Henoch-Schönlein purpura (HSP) is considered to be a small blood vessel systemic vasculitis. Numerous microorganisms have been implicated in triggering HSP. We describe an unusual case of HSP with glomerulonephritis and renal failure requiring haemodialysis in a young adult man who subsequently developed paroxysmal nocturnal haemoglobinuria (PNH) with several haemolytic episodes. Bacterial infections, especially those of the respiratory and urinary tract, might trigger both the diseases.

Acute Kidney Injury↗
PubMed2002

[Prevalence and clinical features of fibromyalgia in systemic lupus erythematosus, systemic sclerosis and Sjögren's syndrome].

BACKGROUND: We studied the prevalence of fibromyalgia in 3 different groups of patients affected respectively with systemic lupus erythematosus, systemic sclerosis (scleroderma) and primary Sjögren's syndrome. The typical fibromyalgia findings encountered in these diseases were examined. METHODS: We enrolled 250 consecutive outpatients: 100 with systemic lupus erythematosus, 50 with systemic sclerosis, 100 with primary Sjögren's syndrome and 2 control groups (30 healthy subjects and 75 patients with primary fibromyalgia). Fibromyalgia features were evaluated by algometry, VAS for pain, Mc Gill Pain Questionnaire and Fibromyalgia Impact Questionnaire. RESULTS: Fibromyalgia has been found in 1 case (1%) with systemic lupus erythematosus, 1 case with systemic sclerosis (2%), 22 cases (22%) with primary Sjögren's syndrome and in 1 (3.3%) of the healthy controls. The number of tender points was significantly higher (p<0.01) in the patients with Sjögren's syndrome in comparison with the other groups. Fibromyalgic findings were similar in the patients with primary fibromyalgia and Sjögren's syndrome with fibromyalgia, unless for both poor sleep and low algometric thresholds which were more frequently found in primary fibromyalgia (respectively p<0.001 and p=0.05). CONCLUSIONS: Our study suggests that fibromyalgia is relatively frequent in primary Sjögren's syndrome, while in systemic lupus and systemic sclerosis its prevalence is not different from that found in the healthy controls. Typical fibromyalgia findings, except algometric values, were similar between the cases with Sjögren's syndrome plus fibromyalgia and fibromyalgia alone.

Case-Control Studies↗
PubMed2001

Poly(ethylene glycol)-supported bisoxazolines as ligands for catalytic enantioselective synthesis.

Two chiral bisoxazolines (box) supported on a modified poly(ethylene glycol) (PEG) have been prepared by a reaction sequence that involved formation of the properly functionalized box and their attachment to the polymer matrix by means of a spacer and a linker. The solubility properties of PEG allowed use of the supported box as ligands in some catalytic asymmetric transformations carried out under homogeneous conditions and to recover the ligands as if bound to an insoluble support. When the supported box were employed in combination with Cu(II) salts in the Diels-Alder cycloaddition between cyclopentadiene and N-acryloyloxazolidinone, low levels of enantioselectivity were observed (up to 45% ee). Much better results were obtained in the cyclopropanation of styrenes carried out in the presence of CuOTf (up to 93% ee) and in the ene-reaction between alpha-methylstyrene or methylenecyclohexane and ethylglyoxalate (up to 95% ee). One of the ligands, readily recovered by precipitation and filtration, was recycled two times in the ene-reaction with marginal loss in the catalytic activity and very limited erosion of the enantioselectivity.

Journal Article↗
PubMed2001

Respiratory status of infants with esophageal atresia.

In infants with esophageal atresia (EA), lung opacities on a chest radiograph (CXR) are usually considered the cause of respiratory distress (RD). However, in some instances signs of RD and CXR changes show no correlation. The aim of this study was to investigate the pathogenesis of RD in EA patients with a normal CXR. In 41 infants with EA, CXR findings were correlated with clinical manifestations and blood-gas analysis data. The degree of abnormal gas exchange was quantitated by the arterial/alveolar oxygen tension ratio (a-ARO2). Of the 41 infants, 39(95%) presented with RD. No lung opacities were found in 130 of 294 CXRs examined (44%). An a-ARO2 below 0.75 (lower limit of normal) was calculated in 215 of 247 arterial blood samples analyzed (87%). When a temporal correlation was established, RD with a clear CXR was characterized by signs of extra- and intrathoracic airway obstruction, often associated with an a-ARO2 below 0.75. The degree of hypoxemia was greater than the degree of hypercapnia. We conclude that in infants with EA, RD with a clear CXR is related to both tracheomalacia and upper-airway obstruction that may cause miliary atelectasis not detected by conventional CXR with intrapulmonary shunting and hypoxemia.

Blood Gas Analysis↗
PubMed2001

Development of muscle pathology in canine X-linked muscular dystrophy. II. Quantitative characterization of histopathological progression during postnatal skeletal muscle development.

We have characterized the time course of muscle pathology development during the postnatal maturation of quadriceps and tibialis anterior muscle in dystrophic golden retriever dogs. We determined the percentages of degenerating, regenerating, calcium-positive, hypercontracted, albumin-positive, and C3 complement fraction-positive muscle fibers and the extent of connective tissue proliferation in animals from neonate to adult. Necrotic fibers increased from days 2 to 30, decreased at 60 days (to 0.8%) and increased in older animals to a stable level of around 2%. Hypercontracted fibers peaked at 15 days (19.1%) and declined to 3.7% in adults. Regenerating fibers were numerous at 15 and 30 days (10%), declined at 60 days to 4.7% and declined further in adults. Calcium- and albumin-positive fibers peaked at 30 days (6.5% and 13.8%, respectively) and then declined to around 3% and 5%, respectively, in older dogs. In dystrophic dogs, the extent of fibrosis was significantly greater on 15 days than in controls, but did not then increase with age. In carriers, calcium- and albumin-positive fibers always expressed dystrophin abnormally. Muscle damage occurs before completion of muscle maturation in dystrophic dogs. While necrosis and hypercontraction remain stable in adults, fiber regeneration declines to very low levels. In contrast to Duchenne muscular dystrophy, muscle fibrosis in the muscle studied does not increase with age.

Aging↗
PubMed2001

Long-term therapy with plasma exchange in systemic sclerosis: effects on laboratory markers reflecting disease activity.

Plasma exchange (PEX) is a technique that has been applied to the treatment of many immunological disorders, including connective tissue diseases. The crucial role of some humoral factors in the pathogenesis of systemic sclerosis (SSc) could explain the good clinical results obtained in terms of slowing down the disease progression, but the efficacy of PEX in the treatment of SSc is not yet well defined, owing to the lack of controlled studies and validated parameters of disease activity. To demonstrate the long-term efficacy of PEX in the treatment of SSc we treated a group of 28 SSc patients affected with recent onset and/or rapidly progressive disease. Most of these had a diffuse form of SSc, with anti-Sc170 antibody as a disease marker. Before and after long-term PEX treatment we evaluated disease activity parameters including the serum levels of interleukin 2 soluble receptor (sIL-2R) and aminoterminal type III procollagen peptide (PIIINP), plus the percentage of DR+ T cells in the peripheral blood. We also assessed clinical parameters of total skin score and total visceral score. The same parameters were evaluated in 25 SSc patients who did not satisfy the admission criteria for PEX, treated long-term with drugs only. At baseline, serum PIIINP and sIL-2R levels and the percentage of DR+ T cells were significantly increased in PEX patients as compared to others. Following long-term PEX treatment, all the laboratory parameters significantly decreased and the clinical scores showed a slight but not significant improvement. Conversely, in the other group of SSc patients treated for the same period with drugs only, no significant change of laboratory parameters was detected and the clinical scores slightly worsened. Our data suggest that long-term PEX therapy seems to be effective in slowing down the clinical course of patients with severe and rapidly progressive SSc.

Adult↗
PubMed2001

Nephron-sparing surgery for unilateral primary renal tumor in children.

PURPOSE: Definition of the role of nephron-sparing surgery (NSS) in the treatment of children with primary unilateral renal tumor (URT). METHODS: Between January 1992 and June 2000, 28 children with URT were admitted to our surgical unit. Criteria for selection of patients eligible for NSS were at least 50% of affected kidney preservable and stage I at surgery (frozen section biopsies from regional lymph nodes, perirenal fat, and surrounding renal parenchyma). Preoperative 2-drug chemotherapy was given to all patients more than 6 months of age. Between 1992 and 1995, 3-drug chemotherapy was used after NSS. Thereafter, following NSS, 2-drug chemotherapy was given if no microscopic residual disease was found on final histologic examination. RESULTS: NSS was feasible in 10 of 28 children (35%). Enucleation of 6 tumors (1 metachronous) was performed in 5 patients. NSS was elective in 5 patients, mandatory in 3 patients (1 with aniridia and genitourinary anomalies, 1 with chronic glomerulonephritis, 1 with bilateral hyperplastic nephroblastomatosis), and advisable in 2 patients (1 with familial vesicoureteric reflux and 1 with cystic nephroma). Seven children had standard histology nephroblastoma, 1 highly differentiated epithelial type nephroblastoma, 1 oncocytoma, and 1 cystic nephroma. The only post-NSS complication was macroscopic hematuria in 1 patient. None of the patients had a relapse. All children are alive and disease free with good functioning of the affected kidney after NSS, at a mean follow-up of 40.7 months (range, 2 to 100 months). CONCLUSION: NSS should be considered in selected children with URT, especially in patients with increased risk for metachronous tumor or renal disease, and in patients with benign or low-grade malignant URT.

Child↗
PubMed2001

European multicentre study to define disease activity criteria for systemic sclerosis. I. Clinical and epidemiological features of 290 patients from 19 centres.

OBJECTIVE: To investigate the existence of differences among European referral centres for systemic sclerosis (SSc) in the pattern of attendance and referral and in the clinical and therapeutical approaches. METHODS: In 1995 the European Scleroderma Study Group initiated a multicentre prospective one year study whose aim was to define the disease activity criteria in SSc. During the study period each participating European centre was asked to enroll consecutive patients satisfying American College of Rheumatology criteria for SSc and to fill out for each of them a standardised clinical chart. Patients from various centres were compared and differences in epidemiological, clinical, and therapeutical aspects were analysed. RESULTS: Nineteen different medical research centres consecutively recruited 290 patients. The patients could be divided into two subgroups: 173 with the limited (lSSc) and 117 with the diffuse (dSSc) form of the disease. The clinical and serological findings for the series of 290 patients seemed to be similar to data previously reported. However, when the data were analysed to elicit any differences between the participating centres, a high degree of variability emerged, in both epidemiological and clinical features and in the diagnostic and therapeutic approaches to the disease. CONCLUSIONS: The clinical approach to SSc, not only in different countries but also in different centres within the same country, is not yet standardised. To overcome this problem, it will be necessary for the scientific community to draw up a standardised procedure for the management of patients with SSc. This would provide a common research tool for different centres engaged in research on this complex disease.

Adolescent↗
PubMed2001

Pattern of cardiovascular anomalies associated with esophageal atresia: support for a caudal pharyngeal arch neurocristopathy.

Patients with cephalic neurocristopathy (an abnormality of neural crest differentiation) present a striking pattern of associated cardiovascular anomalies (CVA). Therefore, to support the hypothesis that esophageal atresia (EA) may be related to a defective contribution from the cephalic neural crest, we studied the pattern of CVA associated with EA. Medical records of 99 patients with isolated EA, 101 with isolated anorectal malformations (ARM) and 15 with both EA and ARM, consecutively admitted to our unit, were reviewed. The prevalence and pattern of CVA associated with isolated EA or isolated ARM were compared on the assumption that the cranial or caudal location of a major malformation is related to a different regional patterning of associated anomalies. The prevalence of CVA was 39% in patients with isolated EA and 7% in those with isolated ARM (p < 0.01). Neural crest-related CVA (aortic arch anomalies, conotruncal defects, and superior vena cava malformations) accounted for 72% of all CVA in patients with isolated EA versus 14% in those with isolated ARM (p < 0.02). In patients with isolated EA, anomalies of the fourth and sixth aortic arch derivatives accounted for 75% of all neural crest related CVA. The present pattern of CVA in infants with EA supports the concept that EA may be related to an abnormal contribution from caudal portion of cephalic neural crest.

Abnormalities, Multiple↗
PubMed2000

Soluble-polymer-supported synthesis of beta-lactams on a modified poly(ethylene glycol)

A modified poly(ethylene glycol) (PEG) has been developed for the soluble-polymer-supported synthesis of beta-lactams. The monomethylether of PEG (MeOPEG) with an average M(W) of 5000 was used as the support, a 4-(3-propyl)phenyl residue as the spacer, and a 4-oxyphenylamino group as the moiety with the reactive functionality. From this modified PEG representative aromatic, heteroaromatic, unsaturated, and aliphatic imines were obtained in high yields by different procedures. The polymer-supported imines were then employed to prepare several beta-lactams by enolate/imine condensation and ketene/imine cycloaddition. Examples of the control of the absolute stereochemistry during the azetidinone ring formation are also reported. The reactions carried out on the polymer-bound imines showed a remarkable similarity to those performed on nonimmobilized imines, both in terms of yields and stereoselectivities. Removal of the beta-lactams from the polymer has also been accomplished to directly deliver the N-unsubstituted azetidinones.

Journal Article↗