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Biomedical subjects

F Bagnoli

Publications and source records attributed to F Bagnoli.

At least 19 recordsLinked to original sources
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↗
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↗
PubMed1991

[Serum T3, T4, FT3, TSH and TBG in Turner's syndrome].

Turner's syndrome was originally reported as sexual infantilism, short stature, webbed neck and cubitus valgus. Subsequent investigations, however, have disclosed many other abnormalities both in chromosomal and physical features occurring in this syndrome. An increased prevalence of Hashimoto's thyroiditis in patients with Turner's syndrome has been well documented and molecular defects of the TBG have been described. In our study we examined serum T3, T4, FT3, FT4, TSH and TBG levels in 18 girls with Turner's syndrome, in 18 healthy control girls and in the parents of both groups. We reported significant elevated levels of T3 and FT3 in the Turner's group (P 0.01). We did not find any quantitative abnormalities of immunoreactive TBG in the same patients.

Adolescent↗
PubMed1991

[Correlations between individual and familial variables in Turner's syndrome].

In 20 cases of Turner's syndrome (10 with complete X monosomy, 10 with partial X monosomy or mosaicism) aged 3.47 to 15.5 years, the stature of the individual cases and their parents were evaluated. A significant frequency of short stature in mothers (25% below--2.0 S.D.S) has been observed, with a significant difference compared to the mean female stature of the general population. No significant difference has been observed on the stature of fathers. There was a closer correlation with mother's height (r = 0.65, p = 0.001) than with father's height (p = 0.07).

Adolescent↗
PubMed1990

Relationship between mode of delivery and neonatal calcium homeostasis.

Serum levels of calcium (Ca), calcitonin (CT) and parathyroid hormone (PTH) were determined in cord blood of 229 newborns. In 136 newborns the tests were repeated 24 h later. The probands were divided into four groups according to mode of delivery: (1) spontaneous; (2) elective caesarean section without labour; (3) elective caesarean section in labour; (4) emergency caesarean section with fetal distress. Newborns in group 2 had significantly lower Ca and CT levels and significantly higher PTH concentrations in cord blood than the other three groups. In all groups Ca and PTH concentrations were negatively correlated. At 24 h, mean Ca levels had decreased and mean CT and PTH concentrations had increased in all four groups. Newborns in group 2 still had lower Ca levels but higher CT and PTH concentrations. At that time there were negative correlations between Ca and CT levels in groups 1 and 2 and between Ca and PTH concentrations in group 1. These data demonstrate that without labour, cord blood Ca and CT levels are lower and PTH concentrations are higher. The low 24 h calcium in newborns delivered without labour is explained by the lower Ca levels at birth and a tremendous increase of CT. The PTH secretion in full-term newborns is very substantial and negatively correlated with Ca levels.

Calcitonin↗