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M Martinelli

Publications and source records attributed to M Martinelli.

At least 19 recordsLinked to original sources
PubMed1998

Suggestive linkage between markers on chromosome 19q13.2 and nonsyndromic orofacial cleft malformation.

Nonsyndromic cleft lip with or without cleft palate (OFC) is a common birth defect that has genetic bases. The nature of the genetic contribution is still to be clarified; however, some chromosome regions and candidate genes have been proposed for this malformation. We examined linkage between BCL3, a proto-oncogene located in 19q13.2, and OFC in a sample composed of 40 multiplex pedigrees using both nonparametric and parametric methods. The affected pedigree member statistics and the transmission disequilibrium test supported a role for BCL3 in causing OFC, while no evidence of linkage or genetic heterogeneity was found with the lod score method.

B-Cell Lymphoma 3 Protein↗
PubMed1998

A locus in 2p13-p14 (OFC2), in addition to that mapped in 6p23, is involved in nonsyndromic familial orofacial cleft malformation.

An allelic association between the transforming growth factor alpha gene (TGFA) situated in the chromosome 2p13 region and nonsyndromic cleft lip with or without cleft palate, also named orofacial cleft (OFC), was found in several population studies. However, no linkage between gene and malformation has shown up until now, probably due to the presence of genetic heterogeneity and the small sample size analyzed. Previously, we employed a collection of 38 OFC families to demonstrate linkage to the 6p23 chromosome region with the presence of genetic heterogeneity. In the present study we tested whether, in the same sample, linkage between OFC and markers on 2p13 could be determined. Evidence for genetic heterogeneity in our family set was apparent, by both pairwise and multipoint linkage analyses. Moreover, lod scores > 3 were found for marker D2S378 when families linked to the 6p23 markers were analyzed. Taken together these results indicate a role for the TGFA, or for another gene physically close to it, and suggest an interaction between two different genes, OFC1 and OFC2, mapped in 6p23 and 2p13, respectively, in the development of the cleft.

Chromosomes, Human, Pair 2↗
PubMed1998

Lack of linkage disequilibrium between transforming growth factor alpha Taq I polymorphism and cleft lip with or without cleft palate in families from Northeastern Italy.

Cleft lip with or without cleft palate (CL +/- P) is the most frequent craniofacial malformation in different human populations and its cause is largely unknown. Several studies based on population associations have suggested that an allele mapping in the transforming growth factor alpha locus could be responsible, as a risk factor, for the development of the defect. Our investigation of the Taq I polymorphism at the transforming growth factor alpha locus, performed in 40 CL +/- P families, did not find evidence for linkage disequilibrium with particular alleles. Moreover, tight linkage was excluded with the traditional LOD score method.

Alleles↗
PubMed1998

All mechanical low rectal anastomosis in children.

PURPOSE: The aim of this study is to demonstrate the feasibility and usefulness of mechanical suturing in children for low rectal anastomosis. METHODS: The study group includes 31 children operated on from January 1993 to July 1996 by the same senior surgeon, performing the modified Duhamel procedure for Hirschsprung's disease in 17 children, intestinal neuronal dysplasia in seven, and the Knight-Griffen procedure in seven pediatric patients with chronic ulcerative colitis. RESULTS: In all the cases the technique of "viscero-synthesis" was performed using the mechanical stapler. A circular stapler has been used for the end-to-end and the end-to-side anastomosis between the anal canal or the back wall of the rectum with the pulled viscus, while a linear endoscopic stapler (GIA) has been used for the consolidation of the rectocolic wall in the modified Duhamel technique. CONCLUSIONS: The results obtained demonstrate that the mechanical staplers in children are safe and effective in low rectal anastomosis, sparing operative time and reducing the risk of anastomotic dehiscence; however, the size of circular instruments limits its use in neonates and small infants.

Adolescent↗
PubMed1997

Evidence of linkage to 6p23 and genetic heterogeneity in nonsyndromic cleft lip with or without cleft palate.

Nonsyndromic cleft lip with or without cleft palate (CL+/-P) is a congenital orofacial anomaly that derives from an embryopathy with failure of nasal process and palatal shelves fusion. CL+/-P is one of the most common malformations, affecting 1/700-1/1000 live births among Caucasians. Early investigations have suggested that a clefting gene may be located on the short arm of chromosome 6 (6p), as well as in other regions. In this study, we analyzed a large sample of families by using eight PCR markers that map on chromosome region 6p23-p24. The admixture test, as implemented in the HOMOG program, was significant when tested against multipoint data (alpha = 0.60, P value 0.00004); the lod score calculated, assuming heterogeneity, was 3.60 at 1 cM telomeric to D6S259. Taken together these data demonstrate the presence of a locus for CL+/-P in the 6p23 chromosome region.

Chromosomes, Human, Pair 6↗
PubMed1997

Familial transmission of a serious disease--producing group A streptococcus clone: case reports and review.

Invasive group A streptococcus (GAS) infections are emerging diseases; however, person-to-person transmission of invasive GAS producing life-threatening infection has been observed rarely. We report a small intrafamilial cluster of life-threatening GAS infections. A previously healthy 47-year-old father developed necrotizing fasciitis of the neck. Two days later, his 16-year-old daughter developed streptococcal angina, pneumonia, and pleural empyema. Both patients had signs of streptococcal toxic shock syndrome. Pulsed field gel electrophoresis revealed that the M6 strains of GAS isolated from the father and daughter had identical patterns. Cases of person-to-person transmission of invasive GAS infection reported in the literature are also reviewed.

Adolescent↗
PubMed1996

Dietary fish oil normalize dyslipidemia and glucose intolerance with unchanged insulin levels in rats fed a high sucrose diet.

The aim of this study was to investigate the relationship between the lipid-lowering effects of fish oils and concomitant consequences on glucose tolerance and insulin sensitivity in an experimental animal model of hypertriglyceridemia induced by high sucrose intake. To achieve this goal, male Wistar rats were fed a semi-synthetic sucrose rich diet (SRD) (w/w: 62.3% sucrose, 8% corn oil, 17% protein) for 90 days. At the time, a well established and permanent hypertriglyceridemia accompanied by glucose intolerance was present. After that, one half of the animals continued on the SRD up to 120 days. The other half received an SRD in which the source of fat was substituted by cod liver oil (w/w 7% CLO plus 1% corn oil) from day 90 to 120 (SRD+CLO). Control rats were fed a semi-synthetic diet (CD) (w/w: 62.5% corn starch, 8% corn oil, 17% protein) throughout the 120 days experimental period. Results obtained after the experimental period show that the hypertriglyceridemia and glucose intolerance ensuing long term feeding normal rats with a sucrose-rich diet could be completely reversed mediating no change in circulating insulin levels by shifting the source of fat in the diet from corn oil to cod liver oil. These findings suggest that manipulation of dietary fats may play a role in the management of the lipid disorders associated with glucose intolerance and insulin resistance.

Animals↗
PubMed1996

Recombinant human secretory phospholipase A2 released thromboxane from guinea pig bronchoalveolar lavage cells: in vitro and ex vivo evaluation of a novel secretory phospholipase A2 inhibitor.

The primary objective of this study was to develop a functional assay that could provide rapid and reliable information on some pharmacologic characteristics of a novel inhibitor of human secretory phospholipase A2 (sPLA2). Guinea pig bronchoalveolar lavage (BAL) fluid, containing predominantly macrophages, eosinophils and epithelial cells, released thromboxane A2, as measured by thromboxane B2, in a concentration-dependent manner on exposure to recombinant human sPLA2 (rh-sPLA2). Similarly, n-formyl-L-methionyl-L-leucyl-L-phenylalanine (n-F-Met-Leu-Phe) or arachidonic acid also released this lipid mediator. Indomethacin, a cyclooxygenase inhibitor, blocked synthesis of thromboxane in response to these agents. p-Bromophenacylbromide-inactivated rh-sPLA2 was substantially less effective than the untreated enzyme in causing release of thromboxane. LY311727 is a potent indole-derived inhibitor of the isolated enzyme (IC50 = 23 nM). Incubation of this agent with BAL cells, just before addition of rh-sPLA2, reduced release of thromboxane with an IC50 = 1.8 x 10(-6) M. Specificity for sPLA2 was demonstrated in that LY311727, unlike indomethacin, did not reduce synthesis and subsequent release of thromboxane A2 in response to arachidonic acid. Using this technique as a basis, we determined whether LY311727 could sufficiently accumulate in lung after i.v. administration to inhibit rh-sPLA2-induced thromboxane A2 release from BAL cells. The compound, given i.v. to guinea pigs 5 min before collecting BAL fluid, produced a dose-dependent inhibition of rh-sPLA2 with an ED50 = 50 mg/kg. Thus, new in vitro and ex vivo assays were developed that permit functional evaluation of novel sPLA2 inhibitors. These techniques should serve as secondary assays for evaluation of human sPLA2 inhibitory activity from a chemical series and in addition provide initial data related to metabolic stability and distribution to the lung.

Animals↗
PubMed1994

Influences of dimethindene maleate in a new formulation on oculo and psychomotor performance using the oculodynamic test (ODT) in volunteers.

Most antihistamines are assumed to possess a more or less pronounced sedative potential in addition to their antihistaminic properties. Therefore, a single-blind three-way crossover study was designed to assess the influence of single-dose dimethindene maleate (new "once a day formulation") on vigilance and performance vs. loratadine as reference and vs. placebo. Drug effects on performance were tested in 18 healthy volunteers by the oculodynamic test [ODT, i.e. choice reaction task (CRT), combined with recording of electrooculography (EOG) and cardiovascular parameters] and effects on subjective well-being by visual analogue scales (VAS). Main target parameters for evaluation of CNS-effects are latency and subjective perception of sedation (VAS). Neither statistically significant nor clinically relevant differences in all objective and subjective target variables (ODT and VAS) between active drugs and placebo, after single-dose administration were found. The same holds for accessory EOG, CRT and vital parameters under workload.

Adult↗
PubMed1994

[The pseudo-pacemaker syndrome].

We describe three cases of the pseudo-pacemaker syndrome. One of them due to selective fast pathway fulguration of atrioventricular nodal reentrant tachycardia and two others have occurred in spontaneous form. All cases were related with the presence of first-degree atrioventricular block and sinus node tachycardia. The treatment was done with complete atrioventricular block induction catheter ablation and permanent pacemaker implantation in two patients. In conclusion, the procedure of radiofrequency ablation to control AV nodal reentry tachycardia must preserve the fast nodal pathway in order to avoid the pseudo-pacemaker syndrome and this syndrome can spontaneously occur and must be considered during investigation of etiology of syncope.

Adult↗
PubMed1994

[Reproducibility of head-up tilt test in patients with neurocardiogenic syncope].

PURPOSE: In order to identify the reproducibility of head-up tilt test, a second test one week later in 22 patients with a positive first test, was performed. METHODS: The test was performed in a fasting state during the morning. The heart rate and blood pressure were monitored during 20 minutes in the supine position and then at 60 degrees for up to 40 minutes. The test were considered positive if the patient experienced syncope or pre-syncope with fall in systolic blood pressure > 30mmHg. The following aspects were evaluated: reproducibility of the positive response; the type of response (hypotension, asystole or hypotension plus bradycardia) and the time interval between tilt and the beginning of symptoms. RESULTS: Eighteen (82%) patients had a second positive response; 14 (77.8%) of then had the same type of response; and 17 (94%) had syncope in similar time interval after tilt. CONCLUSION: The head-up tilt testing has good reproducibility, although its use in the therapeutic management needs a longer period of evaluation.

Adolescent↗
PubMed1994

[Diagnostic value of the tilt test in the evaluation of syncope of unknown origin. Preliminary results].

PURPOSE: In order to identify neurally mediated syncope, head-up tilt testing was performed in patients with recurrent unexplained syncope. METHODS: The tests were performed in 125 patients in the fasting state, between 8:30 and 11:30 a.m. The blood pressure and heart rate were continuously monitored during 20 minutes in the resting state, and then, positioned at 60 degrees angle, for up to 40 minutes. A group of 20 patients with first negative test was submitted to intravenous isoproterenol in bolus of 2 micrograms every 2 minutes until symptoms occur or at a total dose of 8 micrograms. The test was considered positive when systolic blood pressure decreased at least 30 mmHg and the patient experimented syncope or pre-syncope. RESULTS: In 52 patients the test was positive (41.6%), 63.5% of which had hypotension exclusively; 7.7% asystole; and 28.8% had hypotension and bradycardia. Nine of the 20 patients submitted to isoproterenol test were positive (45%). All patients recovered spontaneously after returning to supine position. CONCLUSION: Head-up tilt testing is a safe and effective method for the identification of neurally mediated syncope.

Adolescent↗
PubMed1994

[Surgical treatment of thoracic wall malformations].

Anterior chest wall deformities in children are the expression of some congenital malformation such as Poland's syndrome and pectus excavatum. The surgical treatment of these malformations affecting children is aimed at correcting large wall defects and stabilizing the chest wall, assuring at the same time chest harmonious growth and postoperative functional assessment. We present the results of the treatment of 2 cases of Poland's syndrome, 20 cases of pectus excavatum and 2 cases of pectus carinatum, with a follow-up of 6 months--9 years.

Cartilage↗
PubMed1993

[Necrotizing enterocolitis].

Necrotizing enterocolitis (NEC) is an important cause of neonatal morbidity and mortality. During the last few years, there was an increase in the incidence of this disease, associated with a better knowledge of NEC, and an increase in survival rate, associated with the development, even from a technological point of view, of neonatal intensive care units. In this study, the authors first perform the diagnostic procedures and describe the anatomical and clinical characteristics of NEC, then evaluate by standard criteria a series of patients observed during the last 5 years, revising the various surgical treatments adopted and the results obtained.

Colon↗