[Idiopathic intestinal pseudo-obstruction of the colon. A case report].
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Colon↗
Biomedical subjects
E Rossi
Publications and source records attributed to E Rossi.
Increased fecal porphyrins in acute intermittent porphyria.
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Adult↗
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly.
We report on the genotype-phenotype correlation in 7 patients with classical lissencephaly carrying a heterozygous subtle mutation in the LIS1 gene. Six patients, showed a mutation predicted to encode for a truncated protein, and one mutation altered a splicing site, resulting in skipping of exon 4. Western blot analysis performed on the lymphoblastoid cell line of 2 patients bearing truncating mutations indicated that the mutated allele did not produce a detectable amount of the LIS1 protein; whereas the analysis performed on the fibroblasts from the patient with a splice-site mutation was suggestive of partial protein synthesis from the mutated allele. Although clinical and magnetic resonance imaging findings of patients with truncating mutations did not differ from those observed in patients with a heterozygous deletion, the patient bearing the exon-skipping mutation had less severe clinical and brain involvement. Our data suggest that truncating mutations in the LIS1 gene are relatively common among patients with classical lissencephaly not bearing a heterozygous deletion at 17p13.3, and strengthen the relevance of correct intracellular dosage of the LIS1 protein in the neuronal migration process.
1-Alkyl-2-acetylglycerophosphocholine Esterase↗
Risk stratification of patients undergoing peripheral vascular revascularization by combined resting and dipyridamole echocardiography.
Patients with advanced peripheral vascular disease have an increased cardiac morbidity and mortality. The aim of this study was to assess the predictive value of rest and stress echocardiography for perioperative and late cardiac events in 110 patients undergoing limb revascularization. All patients underwent preoperative clinical and echocardiographic evaluation at rest and by dipyridamole stress testing to assess cardiac risk. Patients with > or =3 clinical Eagle markers, low left ventricular ejection fraction at rest, or positive dipyridamole stress test results were considered at high cardiac risk. To record adverse cardiac events, all patients were monitored during and after surgery, and followed for at least 1 year after hospital discharge. Cardiac complications occurred in 10 patients (9.7%) perioperatively (2 fatal myocardial infarctions), and in 13 (13%) at 1-year follow-up (7 fatal myocardial infarctions). Echocardiographic evaluation was the best predictor of early (p <0.00003) and late (p <0.0003) cardiac complications. No patient with a negative dipyridamole stress test result and good left ventricular ejection fraction had cardiac complications, either postoperatively or during follow-up. Clinical evaluation does not appear sufficiently sensitive for predicting perioperative cardiac events, but was valuable in predicting late cardiac complications (p <0.0002). Our data show that echocardiographic evaluation of resting dysfunction and of the ischemic response to dipyridamole is a good predictor of perioperative cardiac risk, and is superior to generally available clinical data. Echocardiographic evaluation is useful in defining a low-risk group of patients who can safely undergo limb revascularization, whichever surgical procedure is proposed.
Aged↗
Prothrombin G20210A mutant genotype is a risk factor for cerebrovascular ischemic disease in young patients.
The factor II G20210A mutation is a recently identified congenital risk factor for venous thrombosis. Its role in artery disease is still undefined. We investigated 72 patients (35 male and 37 female) with documented ischemic stroke occurred before 50 years of age and without risk factors such as diabetes, hypertension, and hyperlipidemia; 198 thrombosis-free individuals were investigated as the control group. We found 7 heterozygotes (9.7%) and 2 homozygotes (2.7%) for the mutant factor II allele among the patients and 5 heterozygotes (2.5%) among the controls; the mutant factor II allele frequency in the patient group (7.6%, 95% confidence interval [CI], 3.3 to 11.9) was significantly higher than in the controls (1.2%; 95% CI, 0.1 to 2.3; P = .0001). The prevalence of other investigated mutant alleles (factor V G1691A, methylenetetrahydrofolate reductase C677T) did not significantly differ between the two groups. The odds ratio for ischemic stroke associated with the carriership of the mutant factor II allele (both heterozygous and homozygous genotypes) was 5.1 (95% CI, 1.6 to 16.3). Heterozygous genotype was associated with a 3.8-fold increased risk for cerebral ischemia (95% CI, 1.1 to 13.1); in particular, assuming an expected prevalence of homozygotes in the general population of 1.6 to 10,000 according to the Hardy-Weinberg equilibrium, the risk associated with the homozygous genotype was estimated exceedingly high, being increased 208-fold.
Adolescent↗
The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome.
By screening an expressed sequence tag database, we identified a novel human gene, SLC7A4, encoding a solute carrier family 7 [cationic amino acid (CAA) CAT-4 transporter, y+ system] member 4. The SLC7A4 cDNA is 2325 nt long and includes 78, 1911, and 336 nt in the 5' noncoding, coding, and 3'-noncoding regions, respectively. SLC7A4 displays high homology with SLC7A1 and SLC7A2, two previously known CAA transporters. By chromosomal in situ hybridization and YAC identification, SLC7A4 was mapped to 22q11.2, the commonly deleted region of the velocardiofacial syndrome (VCFS, Shprintzen syndrome). In a patient affected by VCFS, deletion of SLC7A4 was demonstrated by chromosomal FISH. By Northern analysis, an abundant transcript was detected in brain, testis, and placenta. Microinjection of SLC7A4 mRNA into Xenopus laevis oocytes demonstrates a significant stimulation of CAA transport.
Abnormalities, Multiple↗
Identification and characterization of a novel member of the dystrobrevin gene family.
A new member of the dystrobrevin gene family was identified using a bioinformatics approach. Sequence analysis indicates that this gene, named DTN-B, is highly homologous to the rabbit A0, the previously described dystrobrevin (DTN), Torpedo 87 kDa and to the C-terminus of dystrophin. The coiled-coil domain, shown to be the site of interaction between dystrobrevins and dystrophin, is highly conserved. Immunostaining studies indicate that DTN-B and DTN expression is absent in affected muscle fibers from DMD patients and carriers.
Amino Acid Sequence↗
Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes.
We report the identification, structural characterization, and mapping of the human FIGF gene. FIGF is the human homologue of mouse figf (c-fos-induced growth factor), a new member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family. It codes for a secreted factor with mitogenic and morphogenic activity on fibroblast cells. The predicted amino acid sequence of FIGF is 84% identical to that of the mouse protein, and it is highly conserved (up to 40%) in the dimerization domain with respect to the VEGF members of the family. The 2.5-kb mRNA of FIGF was detected in adult lung and heart tissues. The gene spans about 50 kb and is organized into seven exons and six introns. The FIGF promoter contains an optimal AP-1-binding site and lacks a canonical TATA box. Fluorescence in situ hybridization mapped FIGF to chromosomal region Xp22.1. The subsequent identification of YAC positive clones from this region allowed us to refine the map and localize FIGF centromeric to the phosphatidylinositol glycan complementation class A (PIGA) gene and telomeric to the gastrin-releasing peptide receptor (GRPR) gene. FIGF and PIGA genes lie next to each other in a head-to-tail orientation, with the FIGF polyadenylation signal about 12 kb from the PIGA transcriptional start site.
Amino Acid Sequence↗
Height, weight, height velocity of primary school population sample in Campania region.
Aim of this study was to plot height, weight and height velocity values of primary school civic population of Portici and Ercolano, Campania towns, on Tanner's charts in order to verify the overlapping of percentile distribution. On May 1994 height and weight were measured in 3504 children (1735 boys and 1769 girls, aged 5.4-16.1 years, mean age = 8.6 years) from the 1st, 2nd and 5th year of primary schools in Portici and Ercolano. One year later, on May 1995, we remeasured and reweighed 1583 (781 boys and 802 girls, aged 6.4-14.2 years, mean age = 9.6 years) out of total children and we calculated height velocity (HV). The height and weight profiles of our population sample show that children in Portici and Ercolano are taller and fatter than those measured by Tanner and Whitehouse 25-30 years ago. The calculation of body mass index (BMI) confirmed that 30% of total children were obese. Furthermore, the evaluation of one-year HV revealed a clear improvement of linear growth. Our data suggest that Tanner and Whitehouse charts should be updated, and it should be useful to elaborate also height, weight and HV standards derived from present-day population.
Adolescent↗
Do Highways Influence Density of Land Birds?
/ Land bird densities in roadside habitats were studied in 17 locations in central Finland by the line transect method. Two transects were censused in each location. The first transect was situated 25 m from highway edge and the second transect 200 m away from the first one. The results suggested that land bird density was lower closer to highways. Species that avoided the road included willow warbler (Phylloscopus trochilus), crossbills (Loxia spp.), and tree pipit (Anthus trivialis). The composition of the bird community did not vary significantly between the compared transects. Some species appeared to favour road-forest edges but this could not be confirmed with our data. These species were not the same as have been reported to favor clear-fellings-mature forest edges. Therefore, the edge effect does not seem to be the most important factor controlling relative bird densities immediately adjacent and further away from highways. The likelihood of avoiding the problems the highways are causing for bird density are been discussed.KEY WORDS: Highways; Infrastructure; Bird density; Landscape ecology
Journal Article↗
Y-chromosome STR haplotypes in an Italian population sample.
Seven Y-chromosome STRs were investigated in a male population sample from the Modena area by means of one quadruplex reaction (systems DYS19, DYS390, DYS391, DYS393), one duplex reaction (systems DYS389-II, DYS392) and two single PCR reactions (DXYS156 and DYS389-I/II). In 100 males, 71 different haplotypes could be observed, 57 of which were seen only once. The haplotype diversity/discrimination index is 0.97. The resulting database could be used for routine forensic application like paternity testing and stain investigation.
Alleles↗
Acute effects of intravenous sodium chloride load on calcium metabolism and on parathyroid function in patients with primary aldosteronism compared with subjects with essential hypertension.
To elucidate the mechanisms involved in increased parathyroid function in primary aldosteronism (PA), we evaluated the effects of an intravenous NaCl load on Ca metabolism and plasma level of intact parathyroid hormone (PTH) in patients with PA compared with that in patients with essential hypertension (EH). Sixteen PA patients and 16 EH patients who were well matched for age, gender, body mass index, renal function, and systolic (SBP) and diastolic blood pressure (DBP) were examined. In each subject, after 6 days of a controlled intake of Na, K, and Ca, isotonic saline was infused at a rate of 500 mL/h for 4 h. At baseline, in spite of similar BP values and urinary Na excretion (U[Na]V), urinary excretion of Ca (U[Ca]V) and PTH were higher in the PA group than in the EH group. In both groups, the NaCl load caused a decrease of serum ionized Ca (Ca2+) and an increase in PTH, U(Na)V, and U(Ca)V. However, these changes were significantly greater in the PA group. The increased baseline U(Ca)V in PA could be due to reduced reabsorption of sodium in aldosterone insensitive tubular sites, as a result of the "escape phenomenon." The increased U(Ca)V may explain the higher basal PTH in PA patients, which is needed for maintaining a normal Ca2+. The greater changes in the Ca2+/PTH profile elicited by the saline load in PA patients are apparently due to a higher calciuretic response following a more exaggerated natriuresis in PA.
Adult↗
Increased plasma levels of platelet-derived growth factor (PDGF-BB + PDGF-AB) in patients with never-treated mild essential hypertension.
Platelet-derived growth factor (PDGF) could play a role in both vascular hypertrophy and atherosclerotic disease associated with hypertension. To assess whether plasma PDGF level is increased in mild essential hypertension, we measured plasma PDGF concentration in 25 never-treated patients with uncomplicated mild essential hypertension and in 22 normotensive healthy subjects. To evaluate the contribution of platelets to plasma PDGF in the two groups, we also measured plasma beta-thromboglobulin (BTG). Measurement of PDGF was carried out through an enzyme-linked immunoadsorbent assay, which detects two PDGF dimers, namely PDGF-BB and PDGF-AB. Both plasma PDGF and BTG were higher in the hypertensive than in the normotensive subjects. The ratio of PDGF to BTG was similar in the two groups. Plasma PDGF was weakly correlated with plasma BTG in the normotensive subjects, whereas this relationship was lost in the hypertensive patients. Our results suggest that the increase in plasma PDGF (PDGF-AB + PDGF-BB) in never-treated essential hypertension is mainly due to platelet activation. The increased circulating level of PDGF could play a role in the vascular structural changes associated with hypertension.
Adult↗
Screening for primary aldosteronism with a logistic multivariate discriminant analysis.
OBJECTIVE: Primary aldosteronism (PA) is the most common endocrine cause of curable hypertension, but no single test unequivocally identifies it. Accordingly, we investigated the usefulness of a logistic multivariate discriminant analysis (MDA) approach for PA screening. DESIGN: Generation of a logistic MDA function based on retrospective analysis of biochemical tests in a large cohort of referred patients with/without confirmed Conn's adenoma (CA), followed by prospective validation of the model. PATIENTS: We investigated 574 selected hypertensives: 206 (32 with and 174 without CA) retrospectively, 48 (with a 13% prevalence of CA) prospectively for the validation of the model, and 320 referred hypertensives (with a 3.4% prevalence of CA) similarly evaluated. Patients were referred to a specialised centre for hypertension (4th Clinica Medica--University of Padua) and to a department of Internal Medicine of a regional hospital (Reggio Emilia). MEASUREMENTS: In all patients we measured several demographic and biochemical variables and performed a captopril test. A stepwise analysis of variance, based on a model fitted with several different variables, identified baseline (sALDO) and captopril-suppressed plasma aldosterone (cALDO), supine plasma renin activity (sPRA) and K+ as the most informative. Therefore, two models of logistic MDA with sPRA, K+, and either sALDO (model A) or cALDO (model B) were developed and used. ROC analysis was also performed to assess the optimal cut-off values. RESULTS: The model B of MDA provided the best performance and identified CA with 100% sensitivity and 81% accuracy. When used prospectively it showed 100% sensitivity, both in the Padua (88% accuracy) and in the Reggio Emilia series (90% accuracy). However, at both institutions most patients with idiopathic hyperaldosteronism (IHA) were also detected. CONCLUSIONS: Thus, although developed from patients with confirmed Conn's adenoma, a strategy based on multivariate discriminant analysis can be used prospectively for accurate screening for primary aldosteronism. Furthermore, it was proven to be accurate and applicable to patients tested with similar modalities at a different institution. Although this approach did not provide a clear-cut discrimination of Conn's adenoma from idiopathic hyperaldosteronism, it may avoid unnecessary and costly further testing in patients with a low probability of primary aldosteronism.
Adult↗
Ifosfamide-induced renal Fanconi syndrome with associated nephrogenic diabetes insipidus in an adult patient.
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Adult↗
Chromosome 20 ring: a chromosomal disorder associated with a particular electroclinical pattern.
PURPOSE: The chromosome 20 ring [r(20)] is a rare chromosomal disorder without clear phenotypical markers. We describe the electroclinical pattern in a group of patients with r(20). METHODS: We observed 3 patients (a boy, patient 1; his mother, patient 2; and an unrelated man, patient 3), performing prolonged video-EEG and cytogenetic studies and fluorescent in situ hybridization (FISH) with chromosome-specific telomeric probes. RESULTS: All 3 patients had a very similar abnormal electroclinical pattern characterized by long bursts or trains of rhythmic theta waves, which were sharply contoured or had a notched appearance (with no detectable clinical correlate), and generalized spike waves (SW) associated with seizures of probable frontotemporal origin (SFT). In all 3 patients, the cytogenetic analysis of T lymphocytes showed mosaicism with a normal cell line and a second cell line with a chromosome 20, although the latter was little represented in patients 2 and 3. A few cells with a single chromosome 20 were also found. The same cytogenetic findings were confirmed in the lymphoblastoid cell line of patient 1 and in the fibroblasts of patient 3. FISH with chromosome-specific telomeric probes and TTAGGG sequences demonstrated the integrity of the ring chromosomes. CONCLUSIONS: The clinical picture of these patients appears to be related to the instability of the r(20)-generating cells monosomic for chromosome 20 and is thus haploinsufficient for a gene. In these patients, the electroclinical pattern of theta waves (probably unrelated to epilepsy) and the SW and SFT, even with mild mental retardation (MR) or no MR and without dysmorphic features, suggest that the r(20) syndrome may be present.
Adolescent↗
First line Fludarabine treatment of symptomatic chronic lymphoproliferative diseases: clinical results and molecular analysis of minimal residual disease.
Fludarabine (25 mg/m2 for 5 d, every 4 wk, for 6 courses) was administered as first line therapy in 32 symptomatic chronic lymphoproliferative diseases. All CLL patients achieved at least partial response (5 CR, 2 nPR, 9 PR) but 44% of patients relapsed. In LG-NHLs response and relapse rate were similar. Haematological toxicity was low. VDJ rearrangement PCR analysis was performed on marrow samples at diagnosis and at the time of response evaluation. In the 3 patients who underwent high dose therapy with peripheral blood progenitor cell rescue analysis was also performed on apheresis samples and on marrow samples at the end of the procedure. Clonal VDJ rearrangement was always evident after Fludarabine therapy even in those patients who achieved histological and immunophenotypic complete remission, whereas it disappeared in 2 of 3 patients who underwent HDT. Our data confirm that Fludarabine monotherapy can reduce the neoplastic mass to a subclinical level and suggest the possibility that high dose therapy might produce true complete remission.
Adult↗
Safety of endovascular treatment in high-cardiac-risk patients with limb-threatening ischemia.
Vascular surgery can be safely performed in approximately 60% of patients with advanced peripheral vascular disease, because of the high frequency of concomitant coronary artery disease and consequent increased risk of perioperative cardiac complications. The aim of this study was to validate the hypothesis that endovascular revascularization could be safely applied to high-cardiac-risk patients with a lower incidence of perioperative cardiac complications. One hundred and fourteen patients with peripheral vascular disease referred for revascularization underwent preoperatively a clinical and echocardiographic evaluation, at rest and under dipyridamole stress test, to assess the cardiac risk. Patients with high clinical score (according to Goldman and Detsky), or low left ventricular ejection fraction at rest, or positive dipyridamole stress test, were considered at high cardiac risk. To record adverse cardiac events, all patients were monitored during surgery, postoperatively, and followed up for 18 months after hospital discharge. Forty-eight patients (42%) were found to be at high cardiac risk. In this high-cardiac-risk group, endovascular surgery was performed in 37/48 patients (77%) (group A), while the remaining 11/48 patients (23%) were bypassed with open surgery (group B). Postoperative cardiac complications occurred in 16% of patients in group A and in 45% of patients in group B with two deaths (p < 0.05). At follow-up, 51% of patients in group A and 44% of patients in group B had suffered late cardiac events (p=ns), with 10 deaths in group A and three deaths in group B (p=ns). Limb salvage rate was similar in the two groups (95% group A, 100% group B; p=ns). These data show that high-cardiac-risk patients with limb-threatening ischemia have significantly less perioperative cardiac complications when treated by endovascular procedures instead of bypass surgery. Follow-up data on cardiac events confirm the severity of concomitant coronary artery disease in patients with peripheral vascular disease.
Aged↗