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Biomedical subjects

L Marchionni

Publications and source records attributed to L Marchionni.

At least 19 recordsLinked to original sources

The transcriptional landscape of the mammalian genome.

This study describes comprehensive polling of transcription start and termination sites and analysis of previously unidentified full-length complementary DNAs derived from the mouse genome. We identify the 5' and 3' boundaries of 181,047 transcripts with extensive variation in transcripts arising from alternative promoter usage, splicing, and polyadenylation. There are 16,247 new mouse protein-coding transcripts, including 5154 encoding previously unidentified proteins. Genomic mapping of the transcriptome reveals transcriptional forests, with overlapping transcription on both strands, separated by deserts in which few transcripts are observed. The data provide a comprehensive platform for the comparative analysis of mammalian transcriptional regulation in differentiation and development.

3' Untranslated Regions↗

Discovery of 342 putative new genes from the analysis of 5'-end-sequenced full-length-enriched cDNA human transcripts.

In this work we describe the process that, starting with the production of human full-length-enriched cDNA libraries using the CAP-Trapper method, led us to the discovery of 342 putative new human genes. Twenty-three thousand full-length-enriched clones, obtained from various cell lines and tissues in different developmental stages, were 5'-end sequenced, allowing the identification of a pool of 5300 unique cDNAs. By comparing these sequences to various human and vertebrate nucleotide databases we found that about 40% of our clones extended previously annotated 5' ends, 662 clones were likely to represent splice variants of known genes, and finally 342 clones remained unknown, with no or poor functional annotation. cDNA-microarray gene expression analysis showed that 260 of 342 unknown clones are expressed in at least one cell line and/or tissue. Further analysis of their sequences and the corresponding genomic locations allowed us to conclude that most of them represent potential novel genes, with only a small fraction having protein-coding potential.

5' Flanking Region↗

Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.

Only a small proportion of the mouse genome is transcribed into mature messenger RNA transcripts. There is an international collaborative effort to identify all full-length mRNA transcripts from the mouse, and to ensure that each is represented in a physical collection of clones. Here we report the manual annotation of 60,770 full-length mouse complementary DNA sequences. These are clustered into 33,409 'transcriptional units', contributing 90.1% of a newly established mouse transcriptome database. Of these transcriptional units, 4,258 are new protein-coding and 11,665 are new non-coding messages, indicating that non-coding RNA is a major component of the transcriptome. 41% of all transcriptional units showed evidence of alternative splicing. In protein-coding transcripts, 79% of splice variations altered the protein product. Whole-transcriptome analyses resulted in the identification of 2,431 sense-antisense pairs. The present work, completely supported by physical clones, provides the most comprehensive survey of a mammalian transcriptome so far, and is a valuable resource for functional genomics.

Alternative Splicing↗

Functional annotation of a full-length mouse cDNA collection.

The RIKEN Mouse Gene Encyclopaedia Project, a systematic approach to determining the full coding potential of the mouse genome, involves collection and sequencing of full-length complementary DNAs and physical mapping of the corresponding genes to the mouse genome. We organized an international functional annotation meeting (FANTOM) to annotate the first 21,076 cDNAs to be analysed in this project. Here we describe the first RIKEN clone collection, which is one of the largest described for any organism. Analysis of these cDNAs extends known gene families and identifies new ones.

Animals↗

Retrograde nasotracheal intubation with a new tracheal tube: a feasibility study.

We have assessed the feasibility of retrograde nasotracheal intubation using a flexometallic tracheal tube with a detachable pilot balloon and connector in a study of 20 consecutive adult patients undergoing oropharyngeal surgery. The technique consisted of: (1) laryngoscope-guided orotracheal intubation; (2) insertion of an 18-gauge Foley catheter through the nose and retraction into the mouth; (3) detachment of the anaesthesia circuit, pilot balloon and connector; (4) insertion of the Foley catheter tip into the proximal end of the tracheal tube and inflation of the Foley catheter cuff; (5) withdrawal of the Foley catheter and attached tracheal tube back through the nose; (6) deflation of the Foley catheter cuff; and (7) re-attachment of the pilot balloon, connector and anaesthesia circuit. The technique was successful at the first attempt in all patients. Mean time taken to insert the Foley catheter and retract it into the mouth was 19 (range 12-30) s. Mean time taken from disconnection to reconnection of the anaesthesia circuit was 8 (6-10) s. Heart rate increased after intubation, but there were no significant changes in arterial pressure. Nasal bleeding, airway problems and hypoxic events did not occur. No anatomical abnormalities or nasal trauma were detected at rhinoscopy. We conclude that retrograde nasotracheal intubation is feasible using a flexometallic tracheal tube with a detachable pilot balloon and connector.

Adult↗

The intubating laryngeal mask for maxillo-facial trauma.

We report the successful use of the intubating laryngeal mask airway in a patient with maxillo-facial trauma for whom the facemask and laryngoscope were relatively contraindicated and the fibreoptic scope potentially difficult to use.

Adolescent↗

The intubating laryngeal mask. Clinical appraisal of ventilation and blind tracheal intubation in 110 patients.

This study assesses the efficacy of the intubating laryngeal mask as a ventilation device and blind intubation guide. Following induction of anaesthesia with propofol, the device was successfully inserted at the first attempt in 110/110 (100%) patients. Placement took less than 10 s in all patients. Size selection was based on nose-chin distance. Adequate ventilation was achieved in 104/110 (95%) patients. Blind tracheal intubation using an 8-mm internal diameter straight silicone cuffed tracheal tube was attempted 3 min after the administration of vecuronium. Passage of a lighted stylet through the intubating laryngeal mask was used to determine the position of the intubating laryngeal mask cuff before blind intubation. If resistance was felt during intubation, a sequence of adjusting manoeuvres was used, based on the depth at which resistance occurred. Tracheal intubation was possible in 104/104 (100%) patients. In 42 (40%) patients, no resistance was encountered and the trachea was intubated at the first attempt. Sixty-two (60%) patients required one adjusting manoeuvre. The mean (range) time taken to successful intubation, i.e. the time from disconnection of the intubating laryngeal mask from the breathing system to successful tracheal intubation, was 79 (12-315) s. Six patients with potential or known intubation problems were included in the study. The tracheas of all six patients were successfully intubated. We conclude that the intubating laryngeal mask is an effective ventilation device and intubation guide with potential for use in patients who may present difficulty in tracheal intubation.

Adult↗

Campus Bio-Medico technique for nasolaryngeal ventilation with reinforced laryngeal mask in dental surgery: a patient report.

The authors report the usefulness of a prototype nasal laryngeal mask airway (LMA) used successfully in a disabled 20-year-old woman with severe psychomotor retardation and a compromised airway with predictable indexes of impossible tracheal intubation in direct laryngoscopy. A 16-ch Foley catheter was inserted through the patient's left nostril and guided through her mouth. A size-3 reinforced LMA was positioned and connected to the distal end of the catheter. The LMA-reinforced tube was removed in a retrograde fashion by pulling the catheter up with the patient breathing spontaneously. The duration of the entire operation was 3 hours 20 minutes, and the patient was able to breathe spontaneously and at a 98% saturation average. Nasal reinforced LMA seems to be an interesting solution in patients undergoing 1-day dental or maxillofacial surgery, but is especially appropriate when nasotracheal intubation is too invasive or technically impossible.

Adult↗

Nocturnal and real-time Rigiscan monitoring in patients with venous incompetence.

OBJECTIVES: In cases of failure of the vascular occlusive system, testing with both nocturnal and real-time monitoring will offer the possibility of making an accurate diagnosis of venous occlusive dysfunction. METHODS/RESULTS: The study was conducted in 124 cases suspected as having venous occlusive dysfunction (VOD). All patients were submitted to cavernometry, which confirmed VOD in 41 cases; however, the existence of a venous disorder could not be established in 83 cases. Nocturnal monitoring with the Rigiscan System was performed in 68 cases; no organic disorder was found in 6 cases. CONCLUSIONS: Although the results of nocturnal monitoring with the Rigiscan is not always consistent, in our experience it has been useful in both nocturnal and real-time monitoring of the erectile responses during many diagnostic tests such as VSS or intracavernosal injection of vasoactive agents.

Humans↗

[Intra-cavernous injections of vasoactive drugs. A 10-year experience at an andrologic center].

The clinical experience of an andrological center in the use of the intra cavernous injections of vaso-active drugs is revisited. Clinical data concerning 1513 ICIs performed, in the last ten years, in 1038 patients have been considered. Various vasoactive drugs have been utilized. Mainly papaverine and prostaglandin E1 are usually employed. The experience and the establishment of the modalities of use both as diagnostic tool and as therapeutic procedure of this particular type of stimulation of the intracavernous vascular system has greatly reduced the possibility of complications and collateral side effects.

Administration, Topical↗

Papillary cystadenoma of the epididymis as a cause of obstructive azoospermia.

We report a case of infertility due to obstructive azoospermia determined by papillary cystadenoma of the epididymis. The 28-year-old patient had other signs of von Hippel-Lindau syndrome and died from neurological complications. The possibility of finding an epididymal neoplasm should be kept in mind in any case of azoospermia with epididymal enlargement.

Adult↗

[Life habits and impotence].

The authors propose their experience of 595 men complaining of erectile dysfunction. Relationships among erectile dysfunction, taking specific medicaments (hypotensive agents) and habits (smoking) are considered. A collaboration among specialists in the management of impotent patients has been proposed.

Adult↗

[Arterial pressure and heart rate: postural variations in the elderly].

The behaviour of arterial blood pressure and heart rate after an active change from the supine to the upright posture was studied in the aged. A significant decrease in the average values for systolic and diastolic blood pressure and a significant increase in the average values for heart rate in the first minute of the upright posture were observed. The systolic and diastolic pressures are reduced in a higher percentage of the cases in the 80-94 year age class. In the same class the PAS is more frequently reduced in the male and the PAD in the female. The heart rate, in the upright posture, is higher in 80-94 year-old males without a significant difference between the sexes.

Aged↗