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Biomedical subjects

L Galli

Publications and source records attributed to L Galli.

At least 109 records · Page 6Linked to original sources
PubMed1995

Bilateral varicocele: impact of right spermatic vein ligation on fertility.

The most frequent cause of male infertility is left varicocele. The surgical or laparoscopic approach for spermatic vein ligation is considered the best method of treatment. The approach to a clinically significant left varicocele associated with a right varicocele (frequently of a smaller size) is not univocal. We analyzed the seminal responses obtained in 65 patients with bilateral varicocele (grades 2 to 3 on the left side and grade 1 on the right side) assigned randomly to undergo unilateral or bilateral ligation. There were no significant differences between the 2 groups with regard to seminal recovery.

Humans↗
PubMed1995

Myocardial protection with and without leukocyte depletion: a comparative study on the oxidative stress.

We tested the hypothesis that controlled reperfusion with leukocyte-depleted blood could improve myocardial protection by reducing the oxidative stress in patients undergoing myocardial revascularization. Thirty-four patients receiving antegrade/retrograde blood cardioplegia were divided into: group A: 11 patients with ejection fractions (EF) less than 35%, treated with leukocyte-depleted controlled blood reperfusion, group B: 11 patients with EF less than 35% in whom no leukocyte depletion was performed, group C: 6 patients with EF more than 45% treated as group A and group D: 6 patients with EF more than 45% without leukocyte depletion. To asses the oxidative stress, we evaluated total, total oxidized (GSSX), and reduced glutathione (GSH) in coronary sinus plasma, immediately before cross-clamping the aorta (T0), and at 0 (T1), 15 (T2) and 30 (T3) min after unclamping it. In groups A and B a significant shift towards oxidation of redox status of glutathione (GSH/GSSX) at T1 vs T0 was observed. Glutathione redox ratio remained low in group B while in group A it returned to the basal value at T2 with a significant difference from group B at T2 and T3. No differences were observed between groups C and D. In conclusion, our data show that leukocyte-depleted reperfusion can afford a better myocardial protection in patients with left ventricular dysfunction, while it seems unnecessary in patients with normal EF.

Aged↗
PubMed1995

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.

Ocular albinism type 1 (OA1) is an X-linked disorder characterized by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes. We isolated a novel transcript from the OA1 critical region in Xp22.3-22.2 which is expressed at high levels in RNA samples from retina, including the retinal pigment epithelium, and from melanoma. This gene encodes a protein of 424 amino acids displaying several putative transmembrane domains and sharing no similarities with previously identified molecules. Five intragenic deletions and a 2 bp insertion resulting in a premature stop codon were identified from DNA analysis of patients with OA1, indicating that we have identified the OA1 gene.

Albinism, Ocular↗
PubMed1995

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.

The locus for ocular albinism type 1 (OA1) has been assigned to the Xp22.3 region through both linkage and deletion mapping. The disorder was found to be genetically homogeneous, as all informative families showed convincing linkage data with markers on Xp22.3 and all identified deletions involved in the same region. The OA1 gene recently was cloned and several intragenic deletions were identified in affected individuals. We have characterized the genomic structure of the OA1 gene, which spans approximately 40 kb of genomic DNA and contains nine exons. A highly polymorphic dinucleotide repeat was identified in intron 1, that provides a useful tool for molecular diagnosis. Knowledge of the intron/exon boundaries allowed us to search for point mutations in patients' genomic DNA. All nine exons of the OA1 gene, as well as the 5' and 3' untranslated regions, were scanned for point mutations in PCR-amplified DNA from 60 OA1 patients. The mutations identified include: two frameshifts and a splice site mutation leading to truncated OA1 proteins; a deletion of a threonine codon at position 290; and four missense mutations,two of which involve amino acids located within putative transmembrane domains. Two of the mutations each occur in three apparently unrelated families, consistent with previous observations of a founder effect in OA1. Surprisingly, mutations were detected in only one-third of the patients (21 of 60) ascertained. We postulate that mutations not yet identified in either regulatory elements of the OA1 gene, or in other gene(s) located within the same chromosomal region, may be common cause of X-linked ocular albinism.

Albinism, Ocular↗
PubMed1995

Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region.

Ocular albinism type 1 (OA1) is an X-linked recessive disorder characterized by a major impairment of visual acuity, nystagmus, strabismus, photophobia and retinal hypopigmentation. From the analysis of patients carrying deletions and translocations involving the distal short arm of the X chromosome (Xp22.3) we have identified a region of approximately 110 kb in which the OA1 gene must lie. We have extensively searched for genes in this region using a variety of techniques which included exon amplification, cDNA selection and direct hybridization of cosmid inserts to cDNA libraries. Putative exons identified by exon amplification were used to screen a human retina cDNA library and several cDNA clones corresponding to an approximately 7.5 kb transcript were isolated and characterized. Transcripts of this newly identified gene were found to be abundant in retina and melanoma and could also be detected in brain, placenta, lung, kidney and pancreas. Interestingly, sequence analysis revealed that this new gene encodes a 1616 amino acid protein sharing significant similarities with the Apical Protein from Xenopus laevis (APX) which is implicated in amiloride-sensitive sodium channel activity. The gene, termed APXL (APX-Like), spans approximately 160 kb, contains 10 exons and covers over 70% of the 110 kb critical region for OA1. A truncated pseudogene sharing very high levels of homology with the rat eIF-5 gene, a eukaryotic translation initiation factor, was found to lie in the middle of intron 1. APXL was found deleted in two patients with contiguous gene syndromes including OA1 and in one patient with isolated OA1. Mapping, expression and patient analysis data led us to consider the APXL gene a strong candidate for the OA1 gene. DNA from 57 unrelated patients with OA1 was, therefore, scanned for mutations in the coding region, using both SSCP analysis and direct sequencing. No functionally significant mutation was identified, suggesting that APXL is not directly involved in OA1. Further studies are needed to clarify the physiologic role of this highly conserved gene.

Albinism, Ocular↗
PubMed1995

Five-year results of neoadjuvant cisplatin, methotrexate and vinblastine chemotherapy plus radical cystectomy in locally advanced bladder cancer.

Neoadjuvant systemic cisplatin, methotrexate and vinblastine chemotherapy has been used in the treatment of 69 patients with advanced bladder cancer (stages T2-T4 N+/N0 M0). Sixty patients were evaluable for response at a median follow-up of 48 months. Preoperative resection of the tumor was purposely avoided in order to keep a marker lesion. After planned radical cystectomy, pathological complete responses (pCRs) and partial responses (pPRs) were documented in 5 (8.3%) and 29 cases (43.4%), respectively. These patients had a 5-year disease-free survival rate of 80%, which was statistically superior (p = 0.0013) to 35% for the remaining nonresponding patients. One patient (20%) with a pCR died of systemic disease after 14 months, while the remaining 4 patients (80%) are alive and free of disease after a median follow-up of 57 months. A higher percentage of pCRs and pPRs was observed in the group of patients with stage T3b-T4 tumor (pCR 11%, pPR 63%) in contrast to the patients with stage T2-T3a disease (pCR 4.5%, pPR 45.5%), even if no significant difference in the 5-year survival rate was observed between the 2 groups. Patients with a G2 tumor before chemotherapy survived longer (5-year survival rate of 78%) than those with G3 disease (5-year survival rate of 61%), but no significant difference was achieved.

Adult↗
PubMed1995

Hemochrome parameters during the first two years of life in children with perinatal HIV-1 infection.

Monthly hemochrome parameters were obtained during the first 2 years of age in 22 children with perinatal human immunodeficiency virus type-1 (HIV-1) infection and in 58 exposed seroreverted children. Timing and predictive value of hemochrome modifications were investigated. Exclusion criteria were hemoglobinopathies and zidovudine (AZT) treatment in pregnancy. When AZT treatment was undertaken children were eliminated from the study. From the second month of life red blood cell (RBC) counts, hemoglobin (Hb) concentrations, and hematocrit values were significantly lower in infected than in uninfected children. RBC counts progressively diverged in infected and uninfected children, and mean values in the former group never reached 4.10(12)/L. No difference was observed in Hb content ratios and RBC size parameters. At 2 months RBC counts, Hb concentrations, and hematocrit values below reference values were associated with a 15.8 (95% confidence limits [CL]: 5.5-48.8) relative risk of being infected. In infected infants aged 5 months a decrease in these parameters was associated with an 11.2 (95% CL: 1.6-77.8) relative risk of developing eventual severe clinical outcome. Low RBC counts, Hb concentrations, and hematocrit values may be included among predictive criteria in infants of HIV-1 infected mothers.

Anemia↗
PubMed1995

Oral hairy leukoplakia in two children with perinatally acquired HIV-1 infection.

We report on two children with acquired immunodeficiency syndrome (AIDS), a 5-year-old girl and a 9-year-old boy, who presented with oral hairy leukoplakia (OHL) as a late clinical manifestation of perinatally acquired human immunodeficiency virus type 1 (HIV-1) infection. The reasons why OHL is a rare symptom in HIV-1-infected children, compared with HIV-1-infected adults, are discussed.

Adult↗
PubMed1995

Onset of clinical signs in children with HIV-1 perinatal infection. Italian Register for HIV Infection in Children.

OBJECTIVE: To investigate the timing of onset of each clinical sign in infants and children with HIV-1 perinatal infection. DESIGN AND METHODS: A total of 200 HIV-1-infected children followed-up from birth were studied. Failure and conditional probabilities were estimated by the Kaplan-Meier product-limit method. Cox proportional hazard analysis was used to evaluate independently associated factors. Results of 934 seroreverters were used to calculate reference values of CD4+ cell counts and predictivity of early signs. RESULTS: Median age at the onset of any sign was 5.2 months (range, 0.03-56 months). The probability of remaining asymptomatic was 19% [95% confidence interval (CI), 14-25.1] at 12 months and 6.1% (95% CI, 2.6-11.7) at 5 years. Lymphadenopathy (69.5%), splenomegaly (62.4%) and hepatomegaly (58.4%) were the most common signs in the first year of life. Peculiar to the first year of life (compared with subsequent ages) was the onset of primary HIV-1 hepatitis and diarrhoea (rate ratios, 23.3 and 15.2, respectively). When CD4+ cell counts in the asymptomatic stage (age, 2 months; range, 0.03-5.9 months) were below rather than above the fifth percentile in seroreverters, onset of signs was earlier [3 range, 0.03-19) versus 5 (range, 0.03-56) months]. Children manifesting signs before the 5.2-month breakpoint had a lower survival rate [74% (range, 65.9-82%) at 12 months and 45% (range, 32.9-57%) at 5 years] than children manifesting signs later [98% (range, 92.2-100%) at 12 months and 74% (range, 60.3-87.7%) at 5 years]. Children whose birthweight was < or = 2400 g had an earlier onset (24 months; range, 1-57 months) of severe conditions than children with higher birthweight (71 months; range, 1-71 months). Development of lymphadenopathy or hepatosplenomegaly within 3 months of life were reliable indicators of infection. CONCLUSIONS: This study describes the sequence of onset of signs in perinatal HIV-1 infection. Infection is shown to progress faster than in adults and in a different manner. Low birthweight, early decreased CD4+ cell counts, and early onset of signs are predictive of rapid progression.

AIDS-Related Complex↗
PubMed1995

[Transrectal echography in laser treatment of incidental prostatic carcinoma].

This report is concerning on our experience in the management of the incidental prostatic cancer treated by laser irradiation and transrectal ultrasounds (TRUS). 22 patients, with stage A incidental prostatic cancer, underwent preliminary TRUS to evaluate suspected areas of residual tumor and/or the capsule thickness. 5 patients, before the laser irradiation, have been treated with 2nd look TURP because residual tumor or much residual prostatic tissue was present. Following TRUS evaluation all the patients underwent a laser irradiation with TRUS guidance. During the laser irradiation TRUS evaluation allows to recognize the anatomy of the prostatic capsule, the thickness of the capsule and to perform a safety and complete laser irradiation of the prostatic capsule with a depth laser irradiation. In the postoperative follow-up the TRUS demonstrated, in 18 patients, a complete laser induced fibrosis of the capsule. In conclusion the TRUS represents a good technique for pre and postoperative evaluation in the patients of stage A prostatic cancer treated with laser irradiation.

Aged↗
PubMed1995

[Echo-guided percutaneous treatment of intraprostatic cysts].

Diagnostic and therapeutic values regarding echoguided percutaneous treatment of intraprostatic cysts are reviewed and discussed. Since 1987 we have detected by ultrasonography 48 intraprostatic cysts, 22 asymptomatic patients were evaluated periodically. A ultrasound guided percutaneous puncture was performed in 26 symptomatic patients. 10 patients affected by dysuria were treated by aspiration and injection of antibiotics. 14 oligospermic patients underwent cyst aspiration followed by introduction of sclerosing agents (aethoxysclerol or alcohol). In one communicating cyst simple aspiration has been performed. A giant cystoadenoma has been resolved by surgical procedure. In the follow-up (2 months - 6 years) we observed: 5 recurrences (50%) in the cysts treated with antibiotics and 6 (43%) recurrences in the cysts treated with sclerosing agents. However, 8 patients out of 10 obtained a resolution of the urinary symptoms and 8 patients out of 14 improved their seminal parameters. On our experience, percutaneous echoguided treatment of prostatic cysts is a suitable and safe technique because of the possibility to resolve some clinic problems, although an high recurrence rate.

Combined Modality Therapy↗
PubMed1994

Evidence that apolipoprotein(a) phenotype is a risk factor for coronary artery disease in men < 55 years of age.

Whereas the importance of plasma lipoprotein(a) [Lp(a)] levels as a risk factor for premature coronary artery disease (CAD) is certain, it is not clear if the apolipoprotein(a) [apo(a)] phenotype plays an additional and independent role. To investigate the possible effect of apo(a) phenotype on premature CAD (in patients < 55 years of age), plasma Lp(a) concentrations, the apo(a) phenotypes, and their relation with many recognized CAD risk factors were examined in 96 non-diabetic male patients with angiographically defined CAD and in 83 age-matched male control subjects with no angiographic evidence of CAD. Results demonstrate that patients with premature CAD are characterized by higher Lp(a) levels (24 +/- 21 vs 17 +/- 15 mg/dl, p < 0.01) and a higher frequency of S2 phenotype (32% vs 15%, p < 0.01). Patients with an S2 phenotype exhibited significantly higher plasma Lp(a) concentrations than control subjects with the same isoform (37 +/- 22 vs 22 +/- 17 mg/dl, p < 0.05). A significant correlation was found between apo B and Lp(a) levels in patients with an S2 phenotype. In addition, patients had a low frequency of S1 and S4, and a high frequency of double-band phenotypes of apo(a). Multivariate analysis did not demonstrate an independent role for apo(a) phenotype as a risk factor for premature CAD. In conclusion, CAD patients < 55 years of age have a very different pattern of apo(a) phenotypes than subjects with no angiographic evidence of CAD; this study confirms the hypothesis that apo(a) phenotype may play an additional role in the etiology of premature CAD.

Apolipoproteins↗
PubMed1994

Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.

Alport's syndrome is characterized clinically by a nonimmune glomerulopathy, often accompanied by sensorineural hearing loss and lens abnormalities, frequently due to mutations in the COL4A5 gene. The association of AS with diffuse leiomyomatosis, a benign proliferation of smooth muscle that occurs most often in the esophagus, trachea, and female genitalia, has been reported. Recently, a deletion involving both the COL4A5 and COL4A6 genes has been reported in four unrelated families. We report an additional case with Alport's syndrome associated with leiomyomatosis carrying a deletion of both COL4A5 and COL4A6 genes. A detailed characterization of the genomic region involved in the deletion event has been performed. Our results demonstrate that the deletion removed exon 1 of COL4A5 and exons 1 and 2 of COL4A6.

Adult↗
PubMed1994

A comparison of transrectal hyperthermia, transurethral thermotherapy, urolume wallstent, and prostatic spiral for benign prostatic hyperplasia patients at poor operative risk.

Transrectal hyperthermia, transurethral thermotherapy, prostatic stent, and prostatic spiral were used to treat 120 poor operative risk patients with symptomatic benign prostatic hyperplasia. The preoperative subjective and objective conditions of the four groups (each of 30 patients) were comparable. None of the patients had an indwelling catheter, but according to flow nomograms, all were obstructed. The greatest increase in peak flow rate was observed after stent placement, while the greatest decrease of residual urine volume was seen after the insertion of the stent and transrectal hyperthermia. According to maximum flow nomograms, only the placement of the stent resolved bladder outlet obstruction. The greatest improvement in subjective symptoms was the result of stent insertion, but the heating procedures also caused a significant reduction of symptom scores. The spiral produced satisfactory results only in the short term.

Aged↗