Publications (22)64.81 Total impact
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Article: Iso-Kikuchi syndrome in an Italian new-born with Y-shaped bifurcation of the index fingers.
European journal of dermatology: EJD 04/2011; 21(3):423-4. · 2.53 Impact Factor -
Article: Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases.
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ABSTRACT: No brain abnormalities are usually detected on conventional magnetic resonance imaging (MRI) in benign hereditary chorea (BHC); there are currently no studies with advanced techniques in literature. We investigated whether conventional and advanced MRI techniques could depict regional brain abnormalities in two familial BHC patients and 24 healthy controls. No brain abnormalities on conventional scans were detectable; also, no significant differences in fractional anisotropy of the basal nuclei were observed. Volumetric analysis showed a decreased volume of the striatum bilaterally compared with controls, whereas spectroscopy demonstrated a significant increased myoinositol/creatine ratio bilaterally, a reduction of choline/creatine ratio bilaterally, and of N-acetyl-aspartate/creatine in the right putamen. With the limits of the small sample size in the patient group, these data show that, despite the absence of macroscopic changes on conventional MRI, volumetric and metabolic abnormalities are present in the basal nuclei of BHC patients.Movement Disorders 11/2010; 25(15):2670-4. · 4.51 Impact Factor -
Article: Lack of use of MDI device in acute asthma: an Italian survey.
Pediatric Pulmonology 11/2009; 44(12):1244-5. · 2.53 Impact Factor -
Article: Deletion of PAX9 and oligodontia: a third family and review of the literature.
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ABSTRACT: This study was conducted to report a family affected by benign hereditary chorea in which a large deletion including TTF1, PAX9, and other genes was identified and results in oligodontia. Clinical and radiological studies of the two affected members (mother and daughter) were used to describe the oligodontia present in both of them. The missing teeth in both patients are described in detail, and these data are compared with the dental anomalies observed in the only two other families with deletions of PAX9 and with the data available for 12 previously reported families carrying different types of PAX9 mutations. There is a clinical relevance for recognizing such families, and offering available therapies since childhood is stressed. Some genotype-phenotype correlations between PAX9 mutations and dental anomalies can be drawn.International Journal of Paediatric Dentistry 05/2008; 18(6):441-5. · 1.01 Impact Factor -
Article: Cutaneous metaplastic synovial cyst in Ehlers-Danlos syndrome: report of a second case.
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ABSTRACT: A cutaneous metaplastic synovial cyst is a rare entity that is probably caused by trauma or surgery. We report the second case of cutaneous metaplastic synovial cyst in a child with Ehlers-Danlos syndrome. His father is also affected with Ehlers-Danlos syndrome, and his diagnosis is substantiated by the demonstration of reduced synthesis of collagen type V.The American Journal of dermatopathology 03/2008; 30(1):59-61. · 1.30 Impact Factor -
Article: Familial posterior helical ear pits.
American Journal of Medical Genetics Part A 01/2008; 143A(23):2832-4. · 2.39 Impact Factor -
Article: Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome.
American Journal of Medical Genetics Part A 02/2007; 143(2):216-8. · 2.39 Impact Factor -
Article: Familial clustering of unexplained transient respiratory distress in 12 newborns from three unrelated families suggests an autosomal-recessive inheritance.
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ABSTRACT: We report on 12 near-term babies from three families in which an unexplained transient respiratory distress was observed. No known risk factor was present in any family and no sequelae were recorded at follow-up. The most common causes of respiratory distress at birth are Neonatal Respiratory Distress Syndrome (NRD) and Transient Tachypnea of the Newborn (TTN), and their cumulative incidence is estimated to be about 2%. Genetic factors have been identified in NRD (surfactant genes) or suggested for TTN (genes affecting lung liquid clearance). Survivors from NRD may develop clinically relevant sequelae, while TTN does not cause any problem later in life. Our cases do not immediately fit NRD or TTN, while familial recurrence suggests the existence of a previously unreported subgroup on patients with respiratory distress for which autosomal-recessive inheritance is likely.TheScientificWorldJOURNAL 02/2007; 7:1611-6. · 1.66 Impact Factor -
Article: Overweight, thinness, body self-image and eating strategies of 2,121 Italian teenagers.
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ABSTRACT: This study describes the prevalence rate of overweight and thinness in a population of teens living in two different areas of Italy and explores the body self-image perception and unhealthy eating behaviours and strategies to lose weight. A questionnaire was administered to a sample of 2,121 teenage students (1,084 males, 1,037 females). Results showed that teen females and males build and perceive their body images in very different ways. Most of the overall sample perceived their weight as normal, while a relevant 31.6% defined themselves as overweight and another 4.4% as heavily overweight. Analysis based on BMI (calculated through self-referred weight and height) showed that only 9.2% of our sample could be considered overweight and 1.7% obese. Most of female teen students (485 out of 1,037) were trying to lose weight, demonstrating that strategies to lose weight were undertaken also by girls perceiving themselves as normal in relation to body weight. 46.8% girls were using strategies to lose weight compared with 21.9% boys. These strategies included very problematic behaviours like self-induced vomiting (3.3% F vs 1.7% M) and dieting pills (2.8% F vs 1.5% M) undertaken along with more usual thinning strategies like dieting and exercising. Girls were more prone than boys to exercise as a way to lose weight (41% vs 31.7%). This study showed that there is a deep gap between actual weight and perceived body-image and weight. This study is one of the first of this kind in Italy and calls for primary prevention and health education programs aimed at improving teen body-image as a strategy to reduce the eating disorder epidemics spreading among young people.TheScientificWorldJOURNAL 10/2005; 5:812-9. · 1.66 Impact Factor -
Article: Tetralogy of fallot in a patient with developmental coxa vara/spondylometaphyseal dysplasia-corner fracture type (DCV/SMD-CF) expanding the variability.
American Journal of Medical Genetics Part A 09/2005; 136A(4):395-7. · 2.39 Impact Factor -
Article: Efforts toward Rubella elimination and improved quality of health care services.
Clinical Infectious Diseases 05/2005; 40(8):1208-9. · 9.15 Impact Factor -
Article: Cerebro-reno-digital (Meckel-like) syndrome with limb malformations and acetabular spurs in two sibs: a new MCA syndrome?
American Journal of Medical Genetics Part A 01/2005; 131(2):213-5. · 2.39 Impact Factor -
Article: The impact of national and international guidelines on newborn care in the nurseries of Piedmont and Aosta Valley, Italy.
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ABSTRACT: Care procedures for preventing neonatal diseases are carried out according to nurseries' traditions and may be not consistent with the evidence based medicine issues. A multi-centric survey was conducted in 2 Regions located in NW Italy (Piedmont and Aosta Valley) in order to collect information on some healthy newborn care procedures. During 2001, a questionnaire was sent to the chief pediatrician in charge to the all 33 nurseries of the region asking the methods used during 2000 as prevention of ophthalmia neonatorum, early and late hemorrhagic disease of newborn, umbilical cord care and recommendations of vitamin D administration. Thereafter, during 2004 the same questionnaire was sent to the 34 chief pediatrician of nurseries to evaluate if the procedures were changed during 2003 according to guidelines. The nurseries care for 32,516 newborns in 2000 and 37,414 in 2003. Aminoglycoside eyes drops as prevention of ophthalmia neonatorum were the first choice in both periods (23 out 33 nurseries in 2000 and 24 out 34 in 2003 p > 0.05; the corresponding figures for newborns were 18,984 out 32,516 newborns vs. 28,180 out of 37,414 p < 0.05). The umbilical cord care was carried out with alcohol in 12/33 centers (13,248 newborns) and dry gauze in 3/33 centers (2,130 newborns) in 2000, the corresponding figures in 2003 were 6/34 centers (p > 0.05), (6,380 newborns, p < 0.05) and 12/34 centers (p < 0.05), (18,123 newborns, p < 0.05). The percentage of newborns receiving of i.m. vitamin K. at birth increased during the study period (15,923/32,104 in 2000 vs. 19,684/37,414 in 2003, p < 0.01), but not the number of nurseries (16 in 2000 and 17 in 2003 p > 0.05). The numbers of parents of newborns who receive the recommendations of oral vitamin K during the first months life decreased from 2000 (25,516/30,606) to 2003 (29,808/37,414, p < 0.01) as well as for Vitamin D recommendation (14,582/30,616 in 2000 vs. 11,051/37,414 in 2003, p < 0.01). Oral vitamin K during the first months of life was recommended by 25 nurseries in 2000 and 27 in 2003 (p > 0.05), the corresponding figures for Vitamin D were 15 and 14 (p > 0.05). In the present study a large variability of procedures among the nurseries was observed. During the study periods, guidelines and evidence based medicine issues have only partially modified the neonatal care procedures In Piedmont and Aosta Valley nurseries. These observations suggest to implement local forum/consensus conference to standardized procedures as much as possible.BMC Pediatrics 01/2005; 5:45. · 1.88 Impact Factor -
Article: Are Gilbert's syndrome and liver involvement genetically linked in infectious mononucleosis?
The Pediatric Infectious Disease Journal 01/2004; 22(12):1110-1. · 3.58 Impact Factor -
Article: The time of umbilical cord separation in healthy full-term newborns: a controlled clinical trial of different cord care practices.
European Journal of Pediatrics 06/2003; 162(5):350-1. · 1.88 Impact Factor -
Article: Back to sleep: risk factors for SIDS as targets for public health campaigns.
Journal of Pediatrics 05/2003; 142(4):453-4. · 4.11 Impact Factor -
Article: Offering rubella vaccination to sexually active adolescents.
Vaccine 05/2003; 21(15):1561. · 3.77 Impact Factor -
Article: Poland sequence and hyperhomocyst(e)inaemia.
Prenatal Diagnosis 08/2002; 22(7):634. · 2.11 Impact Factor -
Article: Mutations in TITF-1 are associated with benign hereditary chorea.
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ABSTRACT: Benign hereditary chorea (BHC) (MIM 118700) is an autosomal dominant movement disorder. The early onset of symptoms (usually before the age of 5 years) and the observation that in some BHC families the symptoms tend to decrease in adulthood suggests that the disorder results from a developmental disturbance of the brain. In contrast to Huntington disease (MIM 143100), BHC is non-progressive and patients have normal or slightly below normal intelligence. There is considerable inter- and intrafamilial variability, including dysarthria, axial dystonia and gait disturbances. Previously, we identified a locus for BHC on chromosome 14 and subsequently identified additional independent families linked to the same locus. Recombination analysis of all chromosome 14-linked families resulted initially in a reduction of the critical interval for the BHC gene to 8.4 cM between markers D14S49 and D14S278. More detailed analysis of the critical region in a small BHC family revealed a de novo deletion of 1.2 Mb harboring the TITF-1 gene, a homeodomain-containing transcription factor essential for the organogenesis of the lung, thyroid and the basal ganglia. Here we report evidence that mutations in TITF-1 are associated with BHC.Human Molecular Genetics 05/2002; 11(8):971-9. · 7.64 Impact Factor -
Article: Familial adverse events after measles-mumps-rubella (MMR) vaccination.
Vaccine 02/2002; 20(7-8):991. · 3.77 Impact Factor
Top co-authors
Top Journals
Institutions
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2010
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IRCCS Fondazione Istituto Neurologico Nazionale C. Mondino
Pavia, Lombardy, Italy
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2005
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Azienda Sanitaria Locale Vercelli
Vercelli, Piedmont, Italy
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1998
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Università degli Studi di Torino
Torino, Piedmont, Italy
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