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Biomedical subjects

F Bagnoli

Publications and source records attributed to F Bagnoli.

At least 19 recordsLinked to original sources
PubMed2002

Molecular cloning, characterisation and expression of a manganese superoxide dismutase gene from peach (Prunus persica [L.] Batsch).

Two cDNA clones encoding mitochondrial manganese superoxide dismutases (MnSODs) from peach ( Prunus persica [L.] Batsch) were identified, which show homologies to several plant MnSODs. The amino acid sequence predicted from one full-length clone ( MnSOD1) showed the highest homology to an MnSOD from Nicotiana plumbaginifolia (94%) and included a 24-amino acid transit peptide typical of those used to target proteins to the mitochondria. A second, partial clone ( MnSOD2) showed divergence from MnSOD1 in the 3' untranslated region. It could therefore derive from a second gene or from an allele of MnSOD1. Southern hybridisation analysis suggests the existence of two MnSOD genes in peach. SOD isoenzyme profiles, MnSOD1 expression and protein levels were studied in aerial vegetative tissues derived from plants of different ages and in adult plants during the seasonal cycle. Zymograms revealed at least two isoforms of MnSODs in pre-shooting vegetative buds and in developing fruits. Levels of MnSODs were lower in leaves derived from apical shoots of adult plants than in leaves derived from seedlings, basal shoots or in vitro propagated juvenile plants, which are considered as juvenile-like structures. The MnSOD1 transcript and protein followed the same pattern. The results suggest that the steady-state levels of MnSOD1 mRNA in leaves vary with both the ontogenetic stage and the growth rate of the tissues examined.

Amino Acid Sequence↗
PubMed2001

Small world effects in evolution.

For asexual organisms point mutations correspond to local displacements in the genotypic space, while other genotypic rearrangements represent long-range jumps. We investigate the spreading properties of an initially homogeneous population in a flat fitness landscape, and the equilibrium properties on a smooth fitness landscape. We show that a small-world effect is present: even a small fraction of quenched long-range jumps makes the results indistinguishable from those obtained by assuming all mutations equiprobable. Moreover, we find that the equilibrium distribution is a Boltzmann one, in which the fitness plays the role of an energy, and mutations that of a temperature.

Animals↗
PubMed2001

Absence of the inferior labial and lingual frenula in Ehlers-Danlos syndrome.

The diagnosis of Ehlers-Danlos syndrome is based on distinctive phenotypical characteristics such as hyperelastic skin and hypermobile joints. To date, no congenital physical markers exist for identifying patients with Ehlers-Danlos syndrome. Absence of the inferior labial (100% sensitivity; 99.4% specificity) and lingual frenulum (71.4% sensitivity; 100% specificity) was found to be associated with classical and hypermobility types of Ehlers-Danlos syndrome.

Adolescent↗
PubMed2001

Nature of phase transitions in a probabilistic cellular automaton with two absorbing states.

We present a probabilistic cellular automaton with two absorbing states, which can be considered a natural extension of the Domany-Kinzel model. Despite its simplicity, it shows a very rich phase diagram, with two second-order and one first-order transition lines that meet at a bicritical point. We study the phase transitions and the critical behavior of the model using mean field approximations, direct numerical simulations and field theory. The second-order critical curves and the kink critical dynamics are found to be in the directed percolation and parity conservation universality classes, respectively. The first-order phase transition is put in evidence by examining the hysteresis cycle. We also study the "chaotic" phase, in which two replicas evolving with the same noise diverge, using mean field and numerical techniques. Finally, we show how the shape of the potential of the field-theoretic formulation of the problem can be obtained by direct numerical simulations.

Journal Article↗
PubMed2001

Infantile hypertrophic pyloric stenosis and asymptomatic joint hypermobility.

A significant association with asymptomatic joint hypermobility was observed in 37 children with a history of infantile hypertrophic pyloric stenosis (P =.0016) and their parents (mothers, P <.0001; fathers, P <.05). The subjects with articular hypermobility showed an increased frequency of absent mandibular frenulum, thereby suggesting the presence of a previously unrecognized, systemic abnormality of the extracellular matrix.

Extracellular Matrix↗
PubMed2001

Sensorial saturation: an effective analgesic tool for heel-prick in preterm infants: a prospective randomized trial.

Pain is traumatic for preterm infants and can damage their CNS. We wanted to assess whether multisensorial stimulation can be analgesic and whether this effect is only due to oral glucose or sucking. We performed a randomized prospective study, using a validated acute pain rating scale to assess pain during heel-prick combined with five different procedures: (A) control, (B) 10% oral glucose plus sucking, (C) sensorial saturation (SS), (D) oral water, and (E) 10% oral glucose. SS is a multisensorial stimulation consisting of delicate tactile, vestibular, gustative, olfactory, auditory and visual stimuli. Controls did not receive any analgesia. We studied 85 heel-pricks (5 per baby) performed for routine blood samples in 17 preterm infants (28-35 weeks of gestational age). We applied in random order in each patient the five procedures described above and scored pain. SS and sucking plus oral glucose have the greater analgesic effect with respect to no intervention (p < 0.001). The effect of SS is statistically better than that of glucose plus sucking (p < 0.01). SS promotes interaction between nurse and infant and is a simple effective form of analgesia for the NICU.

Analgesia↗
PubMed2000

EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria.

We performed serial electroencephalograms (EEG) in a newborn with methylmalonic aciduria and homocystinuria to assess the effects of hydroxycobalamin (OHcbl) therapy on the CNS. Diagnosis was made at 22 days of age: she had torpor, failure to thrive and hypotonia of the limbs, and intermittent opisthotonus. The first EEG, performed on the first day of therapy, showed abnormal and immature transients, low voltage and very long flat periods in the discontinuous part of the tracing. These features quickly improved during therapy. After 13 days of OHcbl therapy, the EEG tracing became normal for conceptional age and showed normal sleep phases with only minor anomalies; only mild hypotonia still remained and biochemical parameters normalized. The decrease in blood homocysteine (index of blood detoxification) was statistically correlated to the reduction of the length of flat periods in EEG (p < 0.01). In conclusion, changes in neonatal EEG, particularly the length of interburst periods in the intermittent part of the tracing, appeared to be a reliable index for evaluating drug effectiveness in methylmalonic aciduria and homocystinuria.

Electroencephalography↗
PubMed1999

Congenital cystic adenomatoid malformation of the lung associated with esophageal atresia and tracheoesophageal fistula.

Bronchopulmonary malformations associated with esophageal atresia (EA) and tracheoesophageal fistula (TEF) are extremely rare. The authors describe a case of type II congenital cystic adenomatoid malformation (CCAM) of the right lower lobe associated with EA and TEF (Vogt-Gross type C) in a full-term female infant. The CCAM presented as an incidental radiologic finding, and a contralateral tension pneumothorax developed shortly after surgical repair of the EA. Early recognition of this rare association is essential for correct operative management.

Cystic Adenomatoid Malformation of Lung, Congenita↗
PubMed1999

Androgens and osteocalcin during the menstrual cycle.

The relationship between physiological variations in female sex and androgenic hormones and calciotropic hormones was investigated during the menstrual cycle. Estradiol, progesterone, total and free testosterone, androstenedione, immunoreactive PTH, calcitonin, osteocalcin (OC), and ionized calcium serum levels were determined throughout the menstrual cycle in a population of healthy eumenorrhoic women (n = 12; age range: 20-29 yr; mean: 24.2 yr). The women were studied from the first day of a menstrual phase until the first day of the following menstrual phase. Cycle length was standardized on the preovulatory estradiol peak (day 0), and values were given for the first day of a menstrual phase, and days -12, -10, -8, -6, -4, -2, 0, 2, 4, 6, 8, 10, 12, and 14 of the menstrual cycle. All subjects had a regular ovulatory cycle, as indicated by the hormonal profile. No significant cycle phase-dependent changes in calciotropic hormones were present. Significant positive correlations between total testosterone (r = 0.32, P < 0.001), free testosterone (r = 0.26, P < 0.001), androstenedione (r = 0.35, P < 0.0001), and OC were observed. The significant relations between these variables were confirmed by a time series analysis. For the first time, these findings indicate a relationship between androgens and OC serum levels during the menstrual cycle. An important regulatory role of endogenous androgens in OC secretion, bone formation, and maintenance of normal bone mineral content in the healthy eumenorrhoic woman is hence suggested.

Adult↗
PubMed1998

Bone turnover is reduced in children with juvenile rheumatoid arthritis.

Juvenile Rheumatoid Arthritis (JRA) is frequently associated with osteoporosis. In order to determine if JRA osteoporosis is related to reduced formation or to increased bone resorption or both, serum levels of calcium (Ca), phosphorus (PO4), magnesium (Mg), alkaline phosphatase (ALP), parathormone (PTHi), 25-hydroxyvitamin D3 (25-OHD) and 1,25-dihydroxyvitamin D3 (1,25-(OH)2D), osteocalcin (OT), carboxyterminal propeptide (P-coll-1-c), and carboxyterminal telopeptide of type I collagen (ICTP) were evaluated in 47 JRA children, 33 with active disease and 14 in remission. The therapy consisted of nonsteroidal antiinflammatory (NSAIDs) drugs in pauciarticular subset, NSAIDs and Methotrexate (MTX) in polyarticular, NSAIDs and steroids in systemic onset. OT reflects bone formation, P-coll-1-c reflects collagen production and bone formation, ICTP, marker of collagen degradation in bone, indicates bone destruction. Serum levels of Ca, PO4, Mg, ALP, PTHi 25-OHD and 1,25-(OH)2D were comparable in JRA children and in controls. OT (8.7 +/- 3.7 ng/ml vs 9.6 +/- 5.1), P-coll-1-c (301.2 +/- 118.4 ng/ml vs 264.1 +/- 100.1) and ICTP (15.7 +/- 5.7 ng/ml vs 16.1 +/- 6.1) did not differ statistically in the whole group of JRA children vs controls. OT (8.0 +/- 3.5 vs 10.4 +/- 3.8) and ICTP (14.4 +/- 5.4 vs 18.8 +/- 5.4) were significantly lower in active than inactive group. In polyarticular and systemic onset OT and ICTP were significantly lower than in pauciarticular. No difference was found in active patients treated with steroids vs active patients treated with NSAIDS and NSAIDs plus MTX. The lower serum levels of OT and ICTP in active disease support the hypothesis that both bone formation and resorption are reduced in JRA bone turnover.

Alkaline Phosphatase↗
PubMed1995

Selection, mutations and codon usage in a bacterial model.

We present a statistical model of bacterial evolution based on the coupling between codon usage and tRNA abundance. Such a model interprets this aspect of the evolutionary process as a balance between the codon homogenization effect due to mutation process and the improvement of the translation phase due to natural selection. We develop a thermodynamical description of the asymptotic state of the model. The analysis of naturally occurring sequences shows that the effect of natural selection on codon bias affects genes whose products are largely required at maximal growth rate conditions or undergo rapid transient increases.

Bacteria↗
PubMed1993

A new case of severe congenital nemaline myopathy.

The case of a neonate with a rapidly fatal course of nemaline myopathy is reported. Neonatal history and clinical findings suggested a postasphyxia syndrome, but dependence on mechanical ventilation in the absence of severe brain damage or evidence of heart and lung involvement prompted us to perform a muscle biopsy. The typical rod-shaped bodies of nemaline myopathy were observed in skeletal and heart muscle which is unusual in infantile forms. Neonatal bone fractures, which have not been reported previously, were detected. Due to the rapid evolution of the neonatal form, many of these patients may die undiagnosed in the perinatal period, the families remaining unaware of the existence of the genetic disorder. Therefore, if severe hypotonia persists in a neonate, together with dependence on assisted breathing, specific examinations, such as muscle enzyme determination, NCV, EMG and if indicated, muscle biopsy should be performed to rule out neuromuscular disease.

Female↗