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Biomedical subjects

M Valli

Publications and source records attributed to M Valli.

At least 19 recordsLinked to original sources

Osteogenesis imperfecta: clinical, biochemical and molecular findings.

Mutations in COL1A1 and COL1A2 genes, encoding the alpha1 and alpha2 chain of type I collagen, respectively, are responsible for the vast majority of cases of osteogenesis imperfecta (OI) (95% of patients with a definite clinical diagnosis). We have investigated 22 OI patients, representing a heterogeneous phenotypic range, at the biochemical and molecular level. A causal mutation in either type I collagen gene was identified in 20 of them: no recurrent mutation was found in unrelated subjects; 15 out of 20 mutations had not been reported previously. In two patients, we could not find any causative mutation in either type I collagen gene, after extensive genomic DNA sequencing. Failure of COL1A1/COL1A2 mutation screening may be due, in a few cases, to further clinical heterogeneity, i.e. additional non-collagenous disease loci are presumably involved in OI types beyond the traditional Sillence's classification.

Adolescent↗

Electronic patient record systems and the general practitioner: an evaluation study.

We studied how well electronic patient record (EPR) systems meet the needs of general practitioners (GPs) and other health-care professionals for specific information. GPs in eight health centres in the South-Ostrobothnia region of Finland were invited to participate. They used three types of EPR system. They were asked to access EPRs to obtain 20 types of information for patients receiving anticoagulant treatment. In total 2,389 patient cases were studied. All of the information requested was available for 73% of the cases (range 55-93%). There was a significant difference between the type of EPR system and the percentage of patients for whom information was available through the EPR. However, further analysis showed that differences in performance between EPR systems probably reflected differences in the way EPRs were used by different organizations. Great care should be taken in attempts to rank EPR systems based on their performance.

Attitude of Health Personnel↗

[Aetiologies of lithium overdose: 10-year experience of Marseille poison centre].

OBJECTIVE: Lithium is used for control of bipolar disorders. In order to precise the different circumstances at the origin of poisonings, the authors present the cases of lithium intoxication observed in the Marseille poison centre between January 1991 and December 2000. STUDY DESIGN: Retrospective study. METHODS: Three hundred and four cases were observed during the studied period (1 patient a case), concerning 6 different circumstances. For 3 of them, the symptoms were mild: accidental ingestion with children (13 cases); mistakes on the quantities of ingested tablets (43 cases); elevation of lithium blood level due to diuretic therapy (8 cases). For 2 other circumstances, the clinical signs were more severe: treated patients who developed renal failure (15 cases, 6 patients managed in intensive care unit [ICU], 1 death) or dehydration (35 cases, 8 patients treated in ICU and 1 death). Finally, the most severe cases were collected with suicide attempts. Fifty-six percent of the patients were managed in ICU, 5% needed haemodialysis, 10% had cardiac (repolarization disturbances) or neurological (seizures) complications, 2% died. CONCLUSION: The severity of lithium poisonings depends of the circumstances. Ingestion of high quantities of sustained released tablets is the most dangerous situation. Accidental ingestion, even with children, must be considered as less severe situations.

Accidents↗

Comparative bactericidal activity of fluoroquinolones against clinical isolates resistant to fluoroquinolones.

The bactericidal activity of levofloxacin, ciprofloxacin, moxifloxacin and norfloxacin against clinical isolates conventionally classified as resistant to fluoroquinolones were compared at their maximum concentrations in serum, urine (except moxifloxacin) and bronchial mucosa (except norfloxacin). Time killing curves against Escherichia coli, Klebsiella pneumoniae, Proteus mirabilis, Pseudomonas aeruginosa, Staphylococcus epidermidis, and Streptococcus pneumoniae were performed. Serum concentrations of the tested drugs were not able to produce a bactericidal effect on fluoroquinolone-resistant strains. In the urine series, levofloxacin was always bactericidal (decrease > or = 3 logs CFU/ml), while norfloxacin and ciprofloxacin were bactericidal on E. coli (both), P. mirabilis (norfloxacin) and P. aeruginosa (ciprofloxacin). In the bronchial mucosa series, S. pneumoniae was rapidly killed by levofloxacin and moxifloxacin, and K. pneumoniae by levofloxacin after 12 hours. In conclusion, the maximum levofloxacin concentrations achievable at certain body sites allowed killing even of strains defined as resistant by conventional breakpoints.

Anti-Infective Agents↗

Unusual neurotoxic envenomations by Vipera aspis aspis snakes in France.

Vipera aspis aspis (V.a.a.) is the most dangerous poisonous snake in South-Eastern France. The clinical symptoms observed after V.a.a. envenomations involve mostly local signs (pain, edema) associated in the more severe cases with systemic symptoms (gastro-intestinal and cardiovascular manifestations). Since 1992, several unusual cases of moderate and severe 'neurotoxic' envenomations by V.a.a. snakes have been reported in a very localized area in South-Eastern France. Most of the human patients mainly suffered neurological signs owing to cephalic muscle paralysis. Drowsiness and dyspnea were observed for the most severe cases. Envenomed animals suffered respiratory distress and paralysis. The local signs were never as severe as observed after envenomations by vipers in other French regions. Human patients with moderate or severe clinical features received two intravenous injections of Viperfav antivenom, the first dose inducing the decrease of the neurological signs and the second reducing significantly the edema. Neurotoxic components immunologically cross-reacting with toxins from V. ammodytes ammodytes venom from Eastern Europe were detected in the blood of all patients suffering neurological symptoms after a V.a.a. bite. The protective efficacy of various antivenoms was evaluated in mice. The existence of geographical variations in the composition of V.a.a. venom emphasizes on the use of polyvalent antivenom in the treatment of viper envenomations in France.

Adult↗

[Ketamine--dreams and realities].

Ketamine is an anaesthetic used in human medicine and veterinary practice, synthesised on 1962 and marketed on 1970 in France. Recreational uses were described during 1992 in the medical community and in 1996 in the dance settings. The chemical name of ketamine is 2--(2chlorophenyl)2-(methylamine)-cyclohexanone, an aryl cyclohexylamine, structurally related to phencyclidine. Ketamine is known under the following street names: Keta K, Kate, Special K, Vitamin K, la Golden, la Vétérinaire. Ketamine is used intranasally, orally and intramusculary in recreational use. Ketamine is manufactured by the chemical industry. Due to the complicated synthesis, it is sold illicitly for recreational use. Ketamine is a dissociative drug, and the user enters in a psychedelic dream with hallucinations, floating sensation, feeling of dissociation of the mind from the body. The dream is forgotten, the user full in reality with loss of self control, risk of acute intoxication. In long-term exposure, tolerance, dependence, withdrawal signs and flash back are described. Ketamine trademarks are subject to control in France through medicine legislation Ketamine and its salts are subject to control under the national legislation on narcotics and psychotropics substance. From September 2001, the theft of medical and veterinary trademarks have to be declared to police, care health authority Pharmacy control authority and French Health Products Safety Agency.

Anesthetics, Dissociative↗

[Ma Huang, from dietary supplement to abuse].

Dietary supplements containing Ma Huang (chinease ephedra) are available on the web sites and dietary shops in USA. They are widely promoted and used as a mean of weight reduction and energy enhancement. They contain Ma Huang alone or combined with Guarana (caffeine), creatine, St John's wort, carnitine and are proposed with different labels. Numerous reports of adverse reactions and acute intoxication related to these products use were described in the medical literature. In the light of the severity of these cases, some of which resulted in permanent injury and death, the Food and Drug Administration has proposed limits on the dose and duration of use of such supplements. A review of 140 reports submitted to the FDA between June 1997 and March 1999, 47% involved cardiovascular symptoms, 18% neurological symptoms. Severe hypertension was the single most frequent adverse effect followed by tachycardia, myocardial infarction, stroke, seizure. Ten events resulted in death and 13 produced permanent impairment. In France, ampleness of the use of dietary supplements containing ephedra alkaloids is unknown. Two French recent severe poisonings (one with "ripped Fuel" for losing weight and the other with "Energy pills" in a body builder) show that there is serious health risks for the chronic users. Dietary supplements are not subject to control under "la Direction Générale de la Santé". Informations for general public, medical community and health-care authorities are necessary to be aware of potential health hazards of these products use.

Cardiovascular Diseases↗

[Lead poisoning in adults. Experience of the Poison Control Center of Marseille from 1993 to 2000].

OBJECTIVE: Report the experience of the Marseille's anti-poison center with lead poisoning adults. PATIENTS AND METHODS: Between 1993 and 2000, 45 adults patients consulted the poison Centre of Marseille for a history of lead exposure (9 women, 36 men, average age 44 YO, between 22 an 76 YO). The lead sources were mostly occupational (welding, heavy metal industries...), but some were environmental (shooting as a hobby, hunting,...). RESULTS: Ninety-one percent of the patients presented with a clinical feature of possible lead intoxication (asthenia, abdominal pain, anaemia, seizures,...). For 22 patients, calcitetracemate provocation test was negative. 6 patients with a positive test refused to be treated. 16 patients with a positive test were treated with chelation therapy (average lead blood level 566 micrograms/l--mini 320 micrograms/l, maxi 943 micrograms/l--and average lead urine elimination 3,011 micrograms/24 H--mini 789 micrograms/24 H, maxi 7,229 micrograms/24 H. 58 cures were done (1 to 12 cures for each patient). The average quantities of lead eliminated in the urine during the chelation therapy was 30,912 micrograms +/- 29,059 micrograms by case. For 12 patients who stopped the lead exposure after the diagnosis of lead poisoning, the chelaion therapy permitted to decrease the lead blood level of 69%. For 4 patients still exposed during the treatment, the lead blood level decrease of 7% only. For the 16 treated patiEnts, a clinical improvement was noted, and no adverse effects of chelation therapy was observed during the 58 cures.

Adult↗

[Doping in sports. Cases reported to the Poison Control Center of Marseille from 1992 to 2000].

OBJECTIVE: To study the doping substances used in sport and their toxicity. METHODS: Retrospective analysis from January 1992 to December 2000 of the cases of use of doping substances in sport reported by telephone to the anti-poison center in Marseilles. RESULTS: Fifty-one cases were reported concerning 48 men and 3 women with a mean age of 30, ranging from 10 to 55 years. Sixty-three percent of cases were reported over the last four years. The sport practiced was bodybuilding, except in 2 cases (cycling in one case and running in the other). The products used were mainly anabolizing hormones (15 times), clenbuterol (14 times) and creatine (7 times). A third of cases concerned associations of substances and 19 cases presented with symptomatology. CONCLUSION: The diversity in nature and status of the substances mentioned and their association requires enhanced vigilance with regard to the use of drugs in sport. The recent measures voted within the framework of the anti-doping law dated 23/3/99 are aimed at increasing surveillance with the development of anti-doping antennae.

Adolescent↗

Activity of levofloxacin and ciprofloxacin against urinary pathogens.

This study compares the antibacterial activities of levofloxacin and ciprofloxacin against recently isolated urinary tract pathogens, by evaluating their MICs and MBCs in accordance with NCCLS susceptibility tests, time-kill curves and interference with bacterial adhesion to uroepithelial cells. A total of 200 clinical isolates was tested, including the species Escherichia coli, Klebsiella pneumoniae, Proteus mirabilis, Proteus vulgaris, Providencia rettgeri, Pseudomonas aeruginosa, Enterococcus faecalis, Staphylococcus aureus and Staphylococcus epidermidis. All E. coli isolates were susceptible to levofloxacin and only one was resistant to ciprofloxacin, and there were no differences between beta-lactamase-positive and -negative strains. K. pneumoniae strains resistant to ciprofloxacin were also resistant to levofloxacin. Methicillin-resistant S. aureus seemed to be less susceptible than methicillin-susceptible strains to these quinolones. S. epidermidis strains were susceptible to levofloxacin and ciprofloxacin, with the exception of two isolates. Incubation of S. aureus and E. coli with subinhibitory antimicrobial concentrations reduced their capacity to adhere to uroepithelial cells; this was statistically significant at 0.25 x MIC with respect to controls (P < 0.05). Inhibition of adhesion ranged from 36 to 43% when bacteria were incubated in the presence of 0.25 x MIC of levofloxacin and ciprofloxacin, and from 10 to 27% at 0.125 x MIC. These findings suggest that levofloxacin is an effective alternative to ciprofloxacin in the treatment of urinary tract infections and that sub-inhibitory concentrations may contribute to efficacy.

Anti-Infective Agents↗

Diazepam poisoning with one-month monitoring of diazepam and nordiazepam blood levels.

A 54-y-old man ingested 2 g of bulk laboratory diazepam and was treated with activated charcoal, enhanced diuresis and flumazenil infusion. The treatment resulted in awakening, but the patient had drowsiness, dysarthria, diplopia, and dizziness for 9 d. Blood levels of diazepam and its main metabolite, nordiazepam, were obtained for 1 mo. The half-lives in this benzodiazepine overdose were longer than those seen with therapeutic doses. Benzodiazepines should not be readministrated when patients awake after suicide attempts.

Anti-Anxiety Agents↗

beta 1,3-Galactosyltransferase beta 3Gal-T5 acts on the GlcNAcbeta 1-->3Galbeta 1-->4GlcNAcbeta 1-->R sugar chains of carcinoembryonic antigen and other N-linked glycoproteins and is down-regulated in colon adenocarcinomas.

We attempted to determine whether beta1,3-galactosyltransferase beta3Gal-T5 is involved in the biosynthesis of a specific subset of type 1 chain carbohydrates and expressed in a cancer-associated manner. We transfected Chinese hamster ovary (CHO) cells expressing Fuc-TIII with beta3Gal-T cDNAs and studied the relevant glycoconjugates formed. beta3Gal-T5 directs synthesis of Lewis type 1 antigens in CHO cells more efficiently than beta3Gal-T1, whereas beta3Gal-T2, -T3, and -T4 are almost unable to direct synthesis. In the clone expressing Fuc-TIII and beta3Gal-T5 (CHO-FT-T5), sialyl-Lewis a synthesis is strongly inhibited by swainsonine but not by benzyl-alpha-GalNAc, and sialyl-Lewis x is absent, although it is detected in the clones expressing Fuc-TIII and beta3Gal-T1 (CHO-FT-T1) or Fuc-TIII and beta3Gal-T2 (CHO-FT-T2). Endo-beta-galactosidase treatment of N- glycans prepared from clone CHO-FT-T5 releases (+/-NeuAcalpha2-->3)Galbeta1-->3[Fucalpha1-->4]GlcNAcbeta1-->3Gal but not GlcNAcbeta1-->3Gal or type 2 chain oligosaccharides, which are found in CHO-FT-T1 cells. This result indicates that beta3Gal-T5 expression prevents poly-N-acetyllactosamine and sialyl-Lewis x synthesis on N-glycans. Kinetic studies confirm that beta3Gal-T5 prefers acceptors having the GlcNAcbeta1-->3Gal end, including lactotriosylceramide. Competitive reverse transcriptase mediated-polymerase chain reaction shows that the beta3Gal-T5 transcript is expressed in normal colon mucosa but not or poorly in adenocarcinomas. Moreover, recombinant carcinoembryonic antigen purified from a CHO clone expressing Fuc-TIII and beta3Gal-T5 reacts with anti-sialyl-Lewis a and carries type 1 chains on oligosaccharides released by endo-beta-galactosidase. We conclude that beta3Gal-T5 down-regulation plays a relevant role in determining the cancer-associated glycosylation pattern of N-glycans.

Adenocarcinoma↗

Relapse of low-grade gastric MALT lymphoma after Helicobacter pylori eradication: true relapse or persistence? Long-term post-treatment follow-up of a multicenter trial in the north-east of Italy and evaluation of the diagnostic protocol's adequacy.

The effect of eradication of Helicobacter pylori on early stage gastric low-grade MALT lymphoma in 76 patients with follow-up of at least 1 year (12-63 months, mean 28) is reported. No regression was found in five cases after 12-48 months. In one case surgical resection detected the involvement of perigastric lymph nodes overlooked by endoscopic ultrasonography (EUS). Neither progression of the disease nor a high-grade component was documented by repeated gastric mappings, EUS and complete stagings in the other four cases. After histological remission five relapses of low-grade and one relapse of high-grade MALT lymphoma were found 12-48 months after eradication. Subsequent histological remission, without any additional therapy, was found in three relapsed cases. A rapid and persistent histological remission was obtained in 56 patients (73%). A late remission was observed in six cases. Monoclonal remission was found in half of the patients and was frequently delayed. Persistent monoclonality was associated with histological remission in the vast majority of patients. Our data confirm H. pylori eradication as the first choice therapy for early stage gastric low-grade MALT lymphoma and recommend extensive bioptic mapping and endoscopic sonography both in the local staging and in the regression evaluation. The rare cases of late remission encourage us to wait for at least 1 year after eradication of H. pylori. Longer follow-up studies will clarify the meaning of histological relapse/persistence and late remission. The study of non-responder cases could show us a step in lymphomagenesis.

Aged↗

Continuous monitoring of an endocardial index of myocardial contractility during head-up tilt test.

BACKGROUND: Previous studies suggest that vigorous myocardial contractions stimulate ventricular mechanoreceptors and lead to vasovagal syncope. We studied an endocardial index of myocardial contractility during the head-up tilt test in vasovagal patients and control patients, and we evaluated the effect of negative inotropic drugs on myocardial contractility and tilt test outcome. METHODS AND RESULTS: We investigated 19 patients with recurrent vasovagal syncope and positive tilt test (group 1) and 11 patients with no syncope and negative tilt test (group 2). Myocardial contractility was continuously measured during a tilt test (60 degrees ) through a microaccelerometer incorporated in the tip of a right ventricular electrode to sense left ventricular contractility. Patients in groups 1 and 2 were evaluated during an unmedicated tilt test, and patients in group 1 were reevaluated during a tilt test with infusion of esmolol (n = 10) or disopyramide (n = 9). During the unmedicated test, patients in group 1 exhibited a significant increase in myocardial contractility immediately on postural change (P <.05), unlike patients in group 2. Patients in group 1 also had a further increase in myocardial contractility before the end of tilt (P <.01). With drug administration, the changes in supine myocardial contractility were nonsignificant and were not related with the outcome of the tilt test (P <.05). CONCLUSIONS: An increase in myocardial contractility is detected by the sensor during the tilt test. The changes induced by the drugs on supine myocardial contractility are minor and not related with the outcome of the head-up tilt test.

Adrenergic beta-Antagonists↗