PubMed Health⌕ Search

Biomedical subjects

S Orcesi

Publications and source records attributed to S Orcesi.

18 recordsLinked to original sources
PubMed2006

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy.

OBJECTIVE: To assess the efficacy of phenylbutyrate (PB) in patients with spinal muscular atrophy in a randomized, double-blind, placebo-controlled trial involving 10 Italian centers. METHODS: One hundred seven children were assigned to receive PB (500 mg/kg/day) or matching placebo on an intermittent regimen (7 days on/7 days off) for 13 weeks. The Hammersmith functional motor scale (primary outcome measure), myometry, and forced vital capacity were assessed at baseline and at weeks 5 and 13. RESULTS: Between January and September 2004, 107 patients aged 30 to 154 months were enrolled. PB was well tolerated, with only one child withdrawing because of adverse events. Mean improvement in functional score was 0.60 in the PB arm and 0.73 in placebo arm (p = 0.70). Changes in the secondary endpoints were also similar in the two study arms. CONCLUSIONS: Phenylbutyrate was not effective at the regimen, schedule, and duration used in this study.

Child↗
PubMed2006

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study.

The aim of this study was to validate the Hammersmith functional motor scale for children with spinal muscular atrophy in a large cohort of 90 non-ambulant children with spinal muscular atrophy type 2 or 3. All had a baseline assessment (T0) and were reassessed either at 3 months (T1) (n = 66) or at 6 months (T2) (n = 24). Inter-observer reliability, tested on 13 children among 3 examiners, was > 95%. Of the 66 children examined after 3 months 4 had adverse effects in between assessments and were excluded from the analysis. Forty-two (68%) of the remaining 62 reassessed had no variation in scores between T0 and T1 and 13 (21%) were within +/- 1 point. 9 (37.5%) of the 24 children reassessed after 6 months had no variation in scores between T0 and T2 and another 9 (37.5%) had variations within +/- 1 point. Our study confirms previous observations of the reliability of the scale and helps to establish a baseline for assessing changes of functional ability over 3 and 6 month intervals. This information can be valuable in view of therapeutic trials.

Child↗
PubMed2005

The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients.

Described are the outcomes of 11 Italian patients with Aicardi-Goutières syndrome. Neurologic symptoms progressed in the first year of life and stabilized by the end of the second year in 10 patients. White matter abnormalities remained stable; cerebral atrophy was stable in four patients and progressive in two. Calcifications increased (in number and size) in two of six patients. Serial CSF and serum interferon-alpha measurements (three patients) showed reduced CSF interferon-alpha levels.

Abnormalities, Multiple↗
PubMed2004

Prevalence of tic disorders among primary school students in the city of Pavia, Italy.

BACKGROUND: The prevalence of tic disorders in children varies from 1% to 29% depending on the characteristics of the study population, the diagnostic criteria, and the study design and methods. AIMS: To calculate the prevalence of tic disorders among primary school children in Italy. METHODS: The study population comprised 2347 primary school children from the city of Pavia (pop. 80 073), Northern Italy. Using trained school teachers as the source of cases, all children with motor or vocal tics occurring intermittently and unpredictably out of a background of normal motor activity were accepted. The type, frequency, and circumstances of tic disorders were noted. School performance was correlated to the presence of tics. RESULTS: A total of 68 children (56 boys, 12 girls) aged 6-11 years were identified with tic disorders. The period prevalence was 2.9% (95% CI 2.3 to 3.7). The prevalence was 4.4% in boys and 1.1% in girls, with no detectable trends at age 6-11. Motor tics were present in 46 cases, vocal tics in 6, and motor and vocal tics in 16. Situation related tics were noted in 37 cases. A significant correlation was found between the presence of tic disorders and impaired school performance. DISCUSSIONS: Tic disorders are a fairly uncommon but disabling clinical disorder among primary school children from an urban community. The fairly low prevalence of this clinical condition, as compared to other reports, can be explained by the choice of stringent diagnostic criteria and the exclusion of patients with other movement disorders.

Chi-Square Distribution↗
PubMed2003

Measurement of skeletal muscle mass in Duchenne muscular dystrophy: use of 24-h creatinine excretion.

Creatinine concentration in 24-h urine has been proposed as an indirect measure of body skeletal muscle mass (SMM). We attempted to correlate urinary creatinine levels with SMM in eight patients with Duchenne muscular dystrophy, a progressive disease in which the degree of muscle wasting parallels the rate of progression. Magnetic resonance imaging and a newly developed protocol for image analysis were used for the measurement of SMM. The patients ate a creatine-free diet for the week before urine collection. Creatinine was measured with an enzymatic-colorimetric method. Mean (+/-SD) SMM value was 5.4+/-2.5 kg and urine creatinine levels 205.8+/-96.4 mg/day. Daily urinary creatinine excretion did not correlate with SMM. The simple creatinine determination in urine cannot predict SMM in Duchenne muscular dystrophy.

Biomarkers↗
PubMed2003

Body composition and energy expenditure in Duchenne muscular dystrophy.

OBJECTIVE: To investigate the relationship between resting energy expenditure (REE) and body composition in Duchenne Muscular Dystrophy (DMD). DESIGN: An observational study. SETTING: University Research Centre. SUBJECTS: Nine Duchenne children (age range 6-12 y), mean relative weight 128%, agreed to undergo the investigation and all of them completed the study; INTERVENTIONS: Assessment of body composition (total body fat and skeletal muscle mass) by magnetic resonance imaging and resting energy expenditure by indirect calorimetry. MAIN OUTCOME MEASURES: Fat mass (FM; kg and percentage weight), fat-free mass (FFM; kg and percentage weight), muscle mass (kg and percentage weight), resting energy expenditure (kJ/kg body weight and kJ/kg fat-free mass). RESULTS: : In Duchenne children fat mass averages 32% and total skeletal muscle mass 20% of body weight. Resting energy expenditure per kg of body weight falls within the normal range for children of the same age range, while when expressed per kg of FFM is significantly higher than reference values. No relationship was found between REE and total skeletal muscle mass. CONCLUSIONS: Our results do not demonstrate a low REE in DMD boys; on the contrary REE per kg of FFM is higher than normal, probably due to the altered FFM composition. We suggest that the development of obesity in DMD children is not primarily due to a low REE but to other causes such as a reduction in physical activity and or overfeeding.

Body Composition↗
PubMed2000

A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy.

We randomized 18 Duchenne muscular dystrophy (DMD) boys whose age ranged from 5.2 to 14.6 years (mean, 7.3 years) for treatment with either deflazacort (0.9 mg/kg/day) or prednisone (0.75 mg/kg/day) on the basis of age and functional score at the onset of treatment. We followed the patients every 3 months for 1 year, evaluating four limb muscles with the Medical Research Council scale and performance of four functions (walking, climbing stairs, Gowers' maneuver, and rising from a chair). Side effects were monitored by a questionnaire and by routine blood examination, and weight and height were recorded at each visit. At 12 months, the effect of both steroids was examined by comparing the status of the treated patients with another group of untreated DMD patients that served as natural history control. The two steroids were equally effective in improving motor function and functional performances. At 9 months, the average weight increase with respect to baseline value was 5% (2 kg) in the deflazacort group but 18% in the prednisone group (P < 0. 005), and the change remained significant after 12 months (P < 0.05). Other minor but nonsignificant side effects were observed. Steroid treatment with deflazacort appears to cause fewer side effects than with prednisone, particularly weight gain, which could be important to maximize motor performances.

Adolescent↗
PubMed1997

Antenatal and delivery risk factors simultaneously associated with neonatal death and cerebral palsy in preterm infants.

To evaluate the simultaneous effects of antenatal and delivery risk factors on neonatal death and cerebral palsy in preterm infants, we conducted a cohort study of 363 singleton pregnancies delivered between 24 and 33 weeks gestation. Neurodevelopmental outcome of the infants was evaluated at 2 years of corrected age. Risk factors associated with death or cerebral palsy were analysed by politomous logistic regression. Overall, the mortality rate was 14.6% (53/363) and the prevalence of cerebral palsy among surviving infants was 12.3% (38/310). Decreasing gestation and meconium-stained amniotic fluid were the only antenatal factors associated with increased odds for both death and cerebral palsy. The effect magnitude and the predictive value of gestational age were greater for death than for cerebral palsy. After adjustment for confounders, prolonged (> or = 48 h) rupture of membranes (odds ratio 2.98, 95% confidence interval 1.12-7.96) and male sex of the infant (odds ratio 3.01, 95% confidence interval 1.32-6.71) were significantly associated only with cerebral palsy. We conclude that neonatal death and cerebral palsy share few common antenatal risk factors. The characteristics of antenatal risk factors for cerebral palsy suggest that bacterial infestation of the amniotic cavity may be implicated in the etiology of the cerebral impairment.

Birth Weight↗
PubMed1997

Cerebral cavernous angiomas: an atypical case in infancy.

Cerebral cavernous angiomas (CCA) are rare, reportedly accounting for only 1% of all intracranial vascular lesions and 15% of all cerebral vascular malformations. Forms are sporadic or familial, and the mode of inheritance is probably autosomal dominant. We report an unusual case of an infant born at 37 weeks of gestational age following a normal pregnancy. Her birth-weight was 1560 g. The family history was negative. At 10 months of age, the child presented with the sudden onset of muscular hypotonia, motility and strength deficits, and absence of osteotendinous reflexes in the right arm. The psychomotor development of the child was normal. MRI revealed the presence of a cavernous angioma in the paramedian pontine region. The child's monoparesis quickly disappeared. This case is interesting because of the age at onset and the way in which the clinical manifestations developed.

Brain Neoplasms↗
PubMed1997

Neurodevelopmental outcome in very low birth weight infants at 24 months and 5 to 7 years of age: changing diagnosis.

We describe the long-term development of 53 very low birth weight premature infants. The children were divided into 2 groups on the basis of ultrasound scan, and classified as: group I, patients with normal ultrasound scan or with uncomplicated hemorrhage; and group II, patients with complicated hemorrhage or only parenchymal lesions. Minor and major sequelae detected at 2 years of age were compared with those observed at 5 to 7 years. Our study confirms that most severely handicapped children are identified by age 2 years. Minor sequelae are more evident at 5 to 7 years and subjects with good outcome, as expressed by a McCarthy General Cognitive Index score > 80, present a discordant cognitive profile with verbal scores higher than performance scores. Therefore, we emphasize the importance of follow-up of very low birth weight premature infants until school age and stress that neonatal ultrasound scan diagnosis of parenchymal damage represents an important diagnostic tool in terms of both short- and long-term neurodevelopmental outcome.

Brain↗
PubMed1995

Effect of preterm premature rupture of membranes on neurodevelopmental outcome: follow up at two years of age.

OBJECTIVE: To evaluate the impact of preterm premature rupture of membranes on the neurodevelopmental outcome of infants, assessed at two years of age. DESIGN: A prospective observational study of surviving preterm infants born after premature rupture of membranes and of infants born after spontaneous preterm labour with intact membranes. The study was carried out in the period 1986 to 1991. SETTING: Pavia, Italy. SUBJECTS: One hundred and forty singleton infants born prematurely after premature rupture of membranes between 24 and 34 weeks of gestation and 120 controls of similar gestational age born after spontaneous preterm labour with intact membranes. MAIN OUTCOME MEASURES: Infant neurodevelopmental outcome at two-year follow up. RESULTS: After adjustment, by logistic analysis for the effect of gestational age and birthweight, infants born after premature rupture of membranes were more likely to have severe neurodevelopmental impairment (spastic tetraplegia and/or Bayley mental developmental index < 71) than controls (adjusted OR 5.75, 95% CI 1.22-27.18). Multivariate analysis of linear trend showed a statistically significant relation of duration of membrane rupture to occurrence of severe intraventricular haemorrhage, cystic periventricular leucomalacia and moderate to severe infant neurodevelopmental impairment. CONCLUSION: Infants born after prolonged premature rupture of membranes are at higher risk of subsequent moderate to severe neurodevelopmental impairment than those born after spontaneous labour with intact membranes.

Birth Weight↗
PubMed1995

Perinatal factors and 2-year minor neurodevelopmental impairment in low birth weight infants.

Perinatal factors were investigated in 53 low birth weight infants with minor neurodevelopmental dysfunction at 2-year follow-up and in 106 consecutive controls matched for gestational age and birth weight (within 100-gram intervals). The obstetrical history, as evaluated by the obstetrical optimality score, was significantly worse in the cases than in controls (obstetrical optimality score = 50.9 +/- 5.9 vs. 53.2 +/- 6.9, p = 0.019 by Mann-Whitney test). Multiple conditional logistic regression analysis showed that after adjustment for socioeconomic status and education of the mother, a low number (< 3) of prenatal visits, and a third trimester hemorrhage were the only antenatal factors significantly associated with an increased risk of minor infant neurodevelopmental impairment. Neonatal acidosis (pH < 7.2 in the first 24 h of life) and male gender were additional significant perinatal risk factors. Only a few antenatal and perinatal factors are correlated with subsequent minor neurodevelopmental impairment in low birth weight infants.

Acidosis↗
PubMed1994

Neurodevelopmental outcome at 5-7 years in preterm infants with periventricular leukomalacia.

We describe outcome at 5-7 years of 37 subjects with periventricular leukomalacia (PVL). Children were divided into 3 groups based on PVL type and clinical outcome. Subjects with cystic PVL > or = 5 mm-1 cm or more (n = 14) all developed CP. CP was found in only 2 subjects out of 11 with cystic PVL < 5 mm. One had GII < 70 according to McCarthy's Scales of Children's abilities. Mild neurological signs were present in 7 and 1 child was normal. Subjects with so-called "prolonged flare" (n = 12) included 6 CP cases, 4 with mild neurological signs and 2 normal subjects. Prognosis was related to site and number of cysts. Cognitive profiles tended to be disharmonic, with discrepancies between verbal, performance and motor scores. We conclude that PVL represents an important diagnostic tool in both short and long-term neurodevelopmental outcome.

Child↗
PubMed1992

Neurodevelopmental outcome in very-low-birth-weight infants with or without periventricular haemorrhage and/or leucomalacia.

The aim of the study was to verify the predictive value of ultrasound performed in the neonatal period for short-term neurodevelopmental prognosis in 122 preterm very-low-birth-weight infants followed-up at 36 months. Neuromotor development was favourable in 53 (87%) subjects with normal ultrasound findings and in 21 (81%) subjects presenting uncomplicated haemorrhage. However, sensory and/or cognitive sequelae developed in 13% and 19% of the two groups, respectively. Outcome was unfavourable in 14 (50%) of 28 patients with ultrasound findings of complicated cerebral haemorrhages and in 5 (71%) of those (7) with ultrasound findings of parenchymal lesions without haemorrhage. Neonatal ultrasound examination seems to be fundamental in predicting neuromotor, but not cognitive, outcome in very-low-birth-weight infants.

Cerebral Hemorrhage↗
PubMedDate not supplied

[Neuropsychologic development of small for gestational age preterm infants: follow up at 12-36 months of age].

We followed 94 preterm infants (G.A. < 37 weeks) small for gestational age (SGA) born from 1980 to 1987 in Pavia and admitted to the Neonatal Intensive Care Unit of S. Matteo Hospital (Pavia). A control group matched for gestational age of 94 preterm appropriate for gestational age (AGA) was also studied. Neurological examination was carried out at 40 weeks postmenstrual age and at 3, 6, 9, 12, 24, 36 months of age with the method of Amiel-Tison and Grenier (1986). Psychomotor development was assessed using Brunet-Lezine's Scale until 1985 and after Bayley Scales of Infant Development. Intrauterine mortality was 23.40% in the SGA group and 5.32% in the AGA group (p = 0.0003); neonatal mortality was 18% in the SGA group and 6.62% in the AGA group (p < 0.01). 42 SGA (80.8%) and 58 AGA (79.5%) were completely normal (group A) at 36 months, but SGA infants showed transient neurological abnormalities (TNA) more frequently than the control group (30.7% vs 6.8% - p < 0.001). 5 SGA (9.6%) and 10 AGA (13.7%) had minor abnormalities (group B); no SGA children and only one AGA had diplegia (group C); 3 SGA (5.8%) and 4 AGA (5.5%) were considered to have severe handicap (group D) SGA children had a higher incidence of epilepsy (3.8% vs 0) than AGA (group E). These results show that in our group of SGA preterm infants the union of intrauterine growth retardation and prematurity compromise the possibility of survival.(ABSTRACT TRUNCATED AT 250 WORDS)

Female↗