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Biomedical subjects

V Valente

Publications and source records attributed to V Valente.

At least 19 recordsLinked to original sources
PubMed2004

Hemorrhagic vascular complications of endoscopic transsphenoidal surgery.

Two hundred and fifty consecutive patients operated on by an endoscopic endonasal transsphenoidal approach were retrospectively analyzed in order to evaluate hemorrhagic vascular complications occurring during or after the surgical procedure and their appropriate management. Vascular complications of endoscopic transsphenoidal surgery are identical to those of a microsurgical transsphenoidal approach. Damage to the sphenopalatine artery and to the internal carotid artery (ICA), which are the most frequent vascular troubles, may require technical tricks because of some aspects connected to the approach itself and of the physical properties of the endoscope. Furthermore, the progress in interventional neuroradiology in the last decades offers new solutions in respect to the past, where the use of the surgical microscope was already a tremendous progress. The anatomic substrate of each complication is discussed, along with the peculiar surgical details related to it.

Carotid Artery, Internal↗
PubMed2002

The control of BhB10-1 gene expression in the salivary gland of Bradysia hygida (Diptera, Sciaridae) is disrupted in vivo by a delayed effect of cycloheximide.

BhB10-1 is an amplified gene present in DNA puff B10. This gene is very active in the salivary gland regions S1 and S3 at the end of the larval development. Two transcripts of this gene, 1.3 and 1.1 kb in size, were detected. A secretory protein, SP23, is the product of BhB10-1. In this work, we present evidence supporting the hypothesis that a biphasic process of mRNA degradation is an important component in the control of BhB10-1 gene expression. The 1.3 kb transcript, by a process of poly(A) tail shortening, is converted to the inactive transcript of 1.1 kb which is detected during and after the period of SP23 expression. Cycloheximide in very low concentration, if applied at a proper time, can disrupt this process leading to extended periods of 1.3 kb RNA detection and SP23 synthesis. A tentative model is proposed to explain this phenomenon.

Animals↗
PubMed2001

The contribution of 700,000 ORF sequence tags to the definition of the human transcriptome.

Open reading frame expressed sequences tags (ORESTES) differ from conventional ESTs by providing sequence data from the central protein coding portion of transcripts. We generated a total of 696,745 ORESTES sequences from 24 human tissues and used a subset of the data that correspond to a set of 15,095 full-length mRNAs as a means of assessing the efficiency of the strategy and its potential contribution to the definition of the human transcriptome. We estimate that ORESTES sampled over 80% of all highly and moderately expressed, and between 40% and 50% of rarely expressed, human genes. In our most thoroughly sequenced tissue, the breast, the 130,000 ORESTES generated are derived from transcripts from an estimated 70% of all genes expressed in that tissue, with an equally efficient representation of both highly and poorly expressed genes. In this respect, we find that the capacity of the ORESTES strategy both for gene discovery and shotgun transcript sequence generation significantly exceeds that of conventional ESTs. The distribution of ORESTES is such that many human transcripts are now represented by a scaffold of partial sequences distributed along the length of each gene product. The experimental joining of the scaffold components, by reverse transcription-PCR, represents a direct route to transcript finishing that may represent a useful alternative to full-length cDNA cloning.

Expressed Sequence Tags↗
PubMed2001

Successful use of central venous catheter as permanent hemodialysis access: 84-month follow-Up in lucania.

Cuffed tunneled venous access catheters are commonly used for temporary and permanent access in hemodialysis (HD) patients. These catheters serve an essential role in providing permanent access in subjects in whom all other access options have been exhausted. The predominant complications are catheter thrombosis, catheter fibrin sheating and infection. The aim of this study was to evaluate long-term survival and complications of permanent venous catheters (PVC) placed for the purpose of HD during the period from January 1992 to December 1998, at the Dialysis Units of Lucania (a southern Italian region). A total of 98 PVC were placed in 88 patients during this period. The catheters used were of three types: (a) 72 VasCath Soft Cell catheters (Bard Instrument Company, Toronto, Ont., Canada); (b) 22 PermCath catheters (Quinton Instrument Company, Seattle, Wash., USA), and (c) 4 Tesio catheters (Bellco SpA, Mirandola, Italy). Survival curves of catheters were calculated using the Kaplan-Meier product-limit estimator. The patient survival was 60% at the 78th month. Actually, 52 patients (27 males, 25 females) are still alive: 15 (26.9%) of these patients have diabetes mellitus and 1 has been transplanted. The actuarial survival rate of PVC was 89% in the whole population studied and 82% in subjects alive after 84 months. Twenty-five patients (28.4%) had PVC as the first reliable vascular access. Long-term complications occurred 27 times (1 episode every 44.81 month/patient) as: breakage (3.1%); thrombosis (10.2%); displacement (2.0%); subcutaneous tunnel bleeding (3.1%); inadequate blood flow (7.1%), and infection (10.2%). In conclusion, our data confirm that PVC might represent an effective long-term blood access route for HD. Again, PVC are getting the access of choice for selected patients (i.e., older subjects with cardiovascular diseases and cancer patients) and are enjoying a dramatic increase in use for subjects who are terrified of repetitive venopuncture.

Actuarial Analysis↗
PubMed2001

PCR template preparation for capillary DNA sequencing.

Fluorescence-based capillary DNA sequencing has facilitated the early completion of several complex sequencing projects. While capillary systems offer great benefits in terms of ease of use and automation, we find that they are sufficiently different from slab gel separation methodologies, demanding re-examination of the protocols used to generate and use DNA sequencing templates. We have recently initiated a large-scale Human Open Reading Frame EST project involving 30 laboratories feeding 11 MegaBace 1000 capillary sequencers. The group has already produced more than 300,000 valid sequences. The most successful template preparation protocol we have found is described here. We have found that a crucial step is the standardization of the quantity and quality of the templates, which have been achieved by overnight bacterial culture followed by PCR using limiting amounts of primers. Using this protocol, there is no need for post-PCR purification, and the final preparation cost is US $0.09/template. After sequencing 10,848 templates using this protocol, 78% of the reads were accepted (after discarding vectors without inserts and inserts smaller than 100 nucleotides), and 85% of the total number of bases had Phred scores of 15 or above.

Polymerase Chain Reaction↗
PubMed2000

Identification of human chromosome 22 transcribed sequences with ORF expressed sequence tags.

Transcribed sequences in the human genome can be identified with confidence only by alignment with sequences derived from cDNAs synthesized from naturally occurring mRNAs. We constructed a set of 250,000 cDNAs that represent partial expressed gene sequences and that are biased toward the central coding regions of the resulting transcripts. They are termed ORF expressed sequence tags (ORESTES). The 250,000 ORESTES were assembled into 81,429 contigs. Of these, 1, 181 (1.45%) were found to match sequences in chromosome 22 with at least one ORESTES contig for 162 (65.6%) of the 247 known genes, for 67 (44.6%) of the 150 related genes, and for 45 of the 148 (30.4%) EST-predicted genes on this chromosome. Using a set of stringent criteria to validate our sequences, we identified a further 219 previously unannotated transcribed sequences on chromosome 22. Of these, 171 were in fact also defined by EST or full length cDNA sequences available in GenBank but not utilized in the initial annotation of the first human chromosome sequence. Thus despite representing less than 15% of all expressed human sequences in the public databases at the time of the present analysis, ORESTES sequences defined 48 transcribed sequences on chromosome 22 not defined by other sequences. All of the transcribed sequences defined by ORESTES coincided with DNA regions predicted as encoding exons by genscan. (http://genes.mit.edu/GENSCAN.html).

Chromosomes, Human, Pair 22↗
PubMed1998

Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency.

We have studied a family with homozygous lethal, blood coagulation factor VII (FVII) deficiency. To identify the mutation responsible for the deficiency, exons 2 to 8 and the intron-exon junctions of their FVII genes were amplified from peripheral white blood cell DNA by polymerase chain reaction and screened by single-strand conformational polymorphism analysis. The fragment showing aberrant mobility was cloned and sequenced. We detected a single point mutation, a homozygous G to A substitution at nucleotide position 6070, in the invariant GT dinucleotide at the 5' splice site of intron 4. Homozygosity was confirmed by loss of a site for the restriction endonuclease Mlu I. Analysis of the splicing pattern of ectopic transcripts in lymphocytes in the parents revealed that this mutation is associated with skipping of exon 4, which produces an mRNA encoding FVII with an in-frame deletion of the first epidermal growth factor-like domain (EGF 1). Transient transfection of COS-7 cells with an expression vector containing the triangle upEGF 1 FVII cDNA shows that this mutant protein is not expressed. The identification of the molecular basis of the FVII deficiency in this family allowed mutation-specific prenatal diagnosis to be performed in a subsequent pregnancy. In this family complete FVII deficiency is associated with a severe bleeding diathesis but no developmental abnormalities, lending weight to the hypothesis that fetal FVII is not required for the putative angiogenic functions of tissue factor in humans.

Animals↗
PubMed1995

[Renovascular hypertension-bilateral kidney: autotransplantation and reconstruction of the aorta with autologous saphena].

The authors describe a patient with stenosis of the renal artery undergoing bilateral kidney autotransplantation and reconstruction of the aorta with autologous saphena. This study also provides a general evaluation of renovascular hypertension incidence, etiopathogenesis, symptomatology, diagnostic criteria, therapy. The presence of a diastolic pressure > 110 mmHg, with normal creatinin levels and urinalysis results, is very significant and leads to invasive investigations. Site and size of the anatomic anomaly are evaluated by arteriography. Surgery is the treatment of choice.

Angiography↗
PubMed1991

Hb Coimbra or alpha 2 beta (2)99(G1)Asp----Glu, a newly discovered highoxygen affinity variant.

We have identified a new high oxygen affinity hemoglobin variant in members of a Portuguese family; it is characterized by an Asp----Glu replacement at codon 99 of the beta chain which is in the alpha 1 beta 2 interface. The altered functional properties of Hb Coimbra likely result from the inability to form a hydrogen bond between beta 99Glu and alpha 42Tyr; such a bond is formed in deoxy Hb A between the normally occurring beta 99Asp and alpha 42Tyr. The two affected members of the family have a distinct erythrocytosis with hemoglobin levels of 18 to 20 g/dl. The mutation in the beta-globin gene (GAT----GAA at codon 99) resulting in the Asp----Glu replacement is the seventh type at this specific location. A review of the many variants of the alpha and beta chains identifies primarily aspartic acid and glutamic acid residues as being most frequently replaced; it is speculated that codons GAC and GAT (for Asp), and GAG and GAA (for Glu) are most susceptible to mutational events.

Amino Acid Sequence↗
PubMedDate not supplied

[A rare case of giant leiomyosarcoma of the small intestine].

The authors report a case of leiomyosarcoma of the small bowel, pointing out its remarkable size and stressing the symptoms that are always unclear and late. Moreover, they outline the anatomo-pathological and clinical features of this rare neoplasm with relevant problems in terms of early and timely diagnosis.

Cecal Neoplasms↗