Biomedical subjects
Publications and source records attributed to F Carnevale.
A patient with isolated sulphite oxidase deficiency presented with seizures at 12 h of life and followed a severe course, dying at 10 months of age. There was mild facial dysmorphism and the brain showed multiple cystic fibrosis.
We describe 2 cases of Goldenhar syndrome with severe abnormalities of the pons. The first case is a 10-month-old Caucasian female infant. At birth the girl showed polydactyly, labiopalatoschisis, right ear agenesis, left eye coloboma and vertebral anomalies. She also had marked hypotonia, severely reduced movements and respiratory and feeding abnormalities. She required gastrostomy at 5 months and tracheostomy at 7 months. Brain MRI scans showed moderate cerebellar hypoplasia and severe abnormalities of the pons with a congenital cleft. The child died at age 12 months. Case 2 is a Caucasian boy. Clinical signs and presentation were similar to case 1. The child also had severely reduced lacrimation, sweating, with thermoregulation abnormalities. He also underwent gastrostomy at 18 months. The child is now 3 years old and is able to sit only with support. Brain MRI was similar to case 1. The association of Goldenhar syndrome and pons abnormalities in 2 subjects suggests that this is more than a mere coincidence. Further studies and characterization of the genes involved in Goldenhar syndrome are needed to establish an adequate genotype-phenotype correlation.
BACKGROUND: The Childhood Cancer Registry of Piedmont (CCRP) started its activity in 1967. It is population based and covers the Piedmont Region (population 4,500,000; NW Italy). This article reports on time trends in survival after a childhood cancer diagnosed during 1970-1994. PROCEDURE: During 1970-1994, 2,329 incident cases were registered at CCRP on the basis of histological and/or clinical information, excluding 30 cases reported only by death certificate. Histological or hematological diagnosis was available for 2,067 cases. Vital status was assessed through the offices of the town of residence. At the end of follow-up, 1,202 cases were alive, 1,084 dead and 43 were not traceable. Survival was measured for the major diagnostic groups using both univariate and multivariate statistics. RESULTS: The 5-yr survival rate for acute lymphoblastic leukemia (ALL) improved regularly from 24.7% in 1970-1974 to 81.1% in 1990-1994, for acute nonlymphoblastic leukemia (ANLL) from 0% to 38.1%, for non-Hodgkin lymphoma (NHL) from 25.2% to 67.7%, for tumors of the central nervous system (CNS) (all types) from 33.4% to 75.9% and for Ewing tumor from 0% to 90%. Focusing on survival by period of diagnosis, the highest 5-year survival rate was observed for children diagnosed during 1985-1989 for medulloblastoma, neuroblastoma (NB), retinoblastoma, Wilms tumor, osteosarcoma, and rhabdomyosarcoma and for children diagnosed in 1990-1994 for the remaining sites. The trend over time was statistically significant for ALL, ANLL, NHL, CNS tumors, NB, and osteosarcoma as well as for all malignancies together. CONCLUSIONS: Population-based survival studies are useful complements to clinical studies. Survival results in the present study are similar to those presented for other European countries and the United States. For most types of neoplasm (except CNS) survival probability appears to stabilize 5-10 years after diagnosis.
In this study, we report the combined use of whole and partial chromosome 6 painting probe and YACS probes to define the unbalanced region of a de novo 6q+ marker chromosome. A male patient with peculiar features of << distal 6q trisomy syndrome >> showed a direct duplication of 6q23 region. Comparing the phenotype of this child with the phenotype of other << de novo >> partial 6q trisomy, we conclude that band 6q23 has an important role in defining 6q trisomy.
A bioptic specimen from the muscles of a patient suffering from severe myopathy was inspected for the presence of human porin 31HL. Western blotting suggested that the specimen was free of the most abundant eukaryotic porin 31HL (HVDAC1). The specimen was treated with detergent and the soluble protein fraction was passed through a dry hydroxyapatite column. The passthrough of this column was inspected for channel formation in artificial lipid-bilayer membranes. The channel observed under these conditions had a single-channel conductance of about 2.5 nS in 1 M KCl, was cation selective, and was found to be virtually voltage independent. Experiments with a control specimen from a healthy human being, without any indication for muscle myopathy, revealed the presence of the voltage-dependent porin 31HL in the sample. It is discussed whether the patient's bioptic specimen contained another human porin, which has not been studied to date in its natural environment.
The paper describes the results of the investigation carried out on five cases of male breast tumours in railway engine drivers notified to the public Occupational Health Service of Florence in 1999. The aim was to evaluate the possibility of professional extremely low frequency electromagnetic fields (ELF) exposure etiology. The extent of this exposure is described with particular care to engine drivers, comparing the one measured in Italy with those reported in other countries.
OBJECTIVE: A recent Internet survey of pediatric neurosurgeons showed that 86% routinely admitted children with immediate posttraumatic seizures (PTS) for a brief period of observation. We wished to determine whether certain children meeting predefined criteria could instead be safely discharged from the emergency room. METHODS: We reviewed the records of children admitted during the past 5 years with a diagnosis of seizure and head injury. Children with a minor head injury, a PTS occurring within 24 h of injury and no intracranial abnormalities on admission CT scan were included. Children with previous neurological conditions, a history of prior seizures (other than PTS or febrile seizures), a prior history of anticonvulsant use, or intracranial abnormalities on the admission CT scan were excluded. Records were abstracted for child's age, gender, length of admission, previous history of PTS or febrile seizures, mechanism of injury, location of impact, time between impact and PTS, the number, length and type of PTS, Glasgow Coma Score (GCS) on admission, subsequent complications and hospital costs. RESULTS: Seventy-one children met the inclusion criteria. Eleven children presented to the emergency room with prolonged seizures, transient apnea or persistently low GCS and required admission to the intensive care unit (ICU). Among the 60 remaining children with simple PTS, none had further seizures during the follow-up period, and none had significant complications. The average cost of hospitalization was known for 58 children; after excluding the costs for 5 patients who were admitted to the ICU, the average hospital cost amounted to USD 1,615 per patient. CONCLUSIONS: Our data suggest that children with isolated minor head injuries and simple PTS who recover fully in the emergency room, whose CT scans show no intracranial abnormalities and who have no prior history of neurological disease, epilepsy or anticonvulsant use are at low risk for recurrent seizures or neurological complications, and could potentially be sent home to a reliable caretaker and a stable home situation. However, because of the limited sample size in this study, the statistical risk of a bad outcome may be as high as 9%; we therefore suggest that much larger studies are potentially needed before this becomes a standard policy.
Eosinophilic granuloma is a term reserved for the most often and benign form of disorder known as Langerhans cells histiocytosis. It is a disease of children and adolescents that very rarely affects adults, representing the localized form of a pathological proliferation of histiocytes in bones, like skull and long bones. Vertebral involvement is uncommon, approximately 8% of the cases, being the cervical localization the least affected. Moreover, the involvement of the spinal cord and roots remains a rare occurrence. Only five cases characterized by signs of cervical spinal cord compression have been reported. We report the sixth case in a 42-year-old-man who evolved with resolution of symptoms, and has remained asymptomatic after treatment. The clinical, radiological and histological features and, also, the value, in selected cases, of surgical treatment followed by low-dose radiation therapy is discussed. A review of the pertinent literature is also presented.
We report the results of 24,475 blood lead determinations (PbB) performed by the Occupational Toxicology Laboratory of Florence between 1976 and 1995. Biological monitoring was carried out in 383 factories localized in the districts of Florence, Prato, Pistoia, Lucca and Pisa. The most represented production fields were colouring ceramic factories, artistic ceramics, transfer-pictures for ceramics, glass factories, typographies, glass decoration factories, chemical factories. In twenty years, the median values of PbB decreased from 48 to 17 micrograms/100 ml in males and from 40 to 8 micrograms/100 ml in females. The 95 degrees centile ranged from 84 to 46 micrograms/100 ml for males and from 63 to 42 micrograms/100 ml for females. In the 1988-95 period, we observed an increase of both the 95 degrees centile and the maximal values because of the inclusion of data from workers employed in factories where the "decorazione a scavo" technique, which is characterized by elevated environmental lead concentrations, was used. In the period 1991-93, the ranges of PbB observed in glass decoration factories were 13-160 micrograms/100 ml for males and 4-80 micrograms/100 ml for females, respectively.
Explore the source record for details and available documents.
We report two male sibs, born to non-consanguineous healthy parents, who showed arthrogryposis, cholestatic jaundice and tubular renal insufficiency. The liver biopsy of the first case showed scanty hypoplastic biliary ducts. This association, first reported by Lutz and Richner in 1973, is a distinct syndrome, characterized by intra-extrahepatic biliary hypoplasia, and described in McKusick's catalogue under the number 210550. All reported cases were males and consanguinity was found in two families. For these reasons, the possibility of an autosomal recessive or of an X-linked transmission should be considered. A similar association, in reports by Nezelof, Di Rocco, and Saraiva, without intra-extrahepatic atresia but with a cholestatic pigmentary liver disease was considered as another condition (no. 301820) by McKusick in 1992.
We report on a combined high resolution cytogenetic and fluorescent in situ hybridization study (FISH) on 15 Prader-Willi syndrome (PWS) and 14 Angelman syndrome (AS) patients. High resolution banding showed a microdeletion in the 15q11-q13 region in 7 out of 15 PWS patients, and FISH analysis of the D15S11 and SNRPN cosmids demonstrated absence of the critical region in three additional cases. Likewise 8 out of 14 AS patients were found to be deleted with FISH, using the GABRB3 specific cosmid, whereas only 4 of them had a cytogenetically detectable deletion.
In order to identify the molecular basis of phenylketonuria (PKU) in Italy, we screened the entire coding sequence of the phenylalanine hydroxylase gene in 20 Italian PKU patients, whose origins are scattered throughout Italy. The frequency of each identified mutation and of 5 other European mutations was determined within a panel of 92 Italian PKU patients. This approach allowed us to identify 20 different PKU mutations and characterize 64% of the Italian PKU chromosomes. Eleven mutations (IVS10nt546, L48S, R158Q, R261Q, P281L, R261X, R252W, delta T55, IVS7nt1, IVS12nt1, Y414C) represent 55.4% of the Italian PKU alleles, the most common mutations being IVS10nt546 (12.4%) and L48S (9%). All the other mutations are very rare. These data confirm the great heterogeneity expected from previous RFLP haplotype studies. Genotype/phenotype correlation allowed for assessment of the clinical impact of the 20 identified mutations.
The measurement of argininosuccinate lyase (ASase) and arginase, both in liver and erythrocytes, was developed by using a commercial amino acid analyzer. The method is based upon the use of two different substrates, argininosuccinate and arginine for ASase and arginase, respectively, and the measurement of only one final metabolite: ornithine. The use of ornithine as a marker of biological activity of ASase is related to the fact that in the urea cycle, the specific activity of arginase is much higher than that of ASase; thus, during in vitro determinations, arginine, which is the product of ASase, is rapidly converted to ornithine. The sensitivity of the methods is very high since we were able to detect both activities using very diluted rat liver homogenates (0.10 mg protein/ml) or few microliters of human blood. In rat liver the Vmax for ASase and arginase were respectively 0.54 and 140 mumol/h/mg protein; the apparent Km values 1.25 and 13.5 mM. In human erythrocytes the Vmax for the same enzymes were 7.2 and 170 nmol/h/mg Hb and the apparent Km values were 0.66 and 9.5 mM. In 10 healthy volunteers the specific activity of ASase and arginase determined in blood were respectively 8.60 +/- 0.46 and 124.1 +/- 14.5 nmol/h/mg Hb. The results obtained from 2 patients suffering from argininosuccinic aciduria were also reported. In these latter cases while ASase was not detectable in blood, arginase activity was at the lowest end of the confidence limits determined in healthy volunteers.
We report a distinct syndrome of eyelid ptosis, convergent strabismus, abdominal muscle defect, hip dislocation, cryptorchidism and developmental delay in two brothers. Consanguinity in their parents suggests autosomal recessive inheritance.
Regulations controlling the manufacture and use of carcinogens in the industrial setting of various countries are examined. In addition, the occupational exposure limits (OEL) of chemicals known or suspected to be carcinogenic in humans are listed, and criteria for the establishment of OELs are discussed. It is also stressed that control measures should not be confined to a few developed countries, and it is hoped that attracting attention to their unevenness will contribute to the implementation of a more efficient primary prevention of cancer.
Malignant tumours mortality among residents of the city of Verona (267,703 at 31-12-1980) during the year 1980 is assessed from the ISTAT individual death cards and/or municipal death certificates (especially in the case of deaths outside the municipality). The figures are broken down by site, apparatus or system (in accordance with the VIII-ICD), sex, age at death, and compared with the Italian mortality figures for 1976 (indirectly standardised) and those for the province of Verona for 1976-77 (directly standardised). Tumour mortality per site was generally higher than the Italian level. This is line with the differences noted between geographical areas and the similarity of the rates in more industrialised areas. A salient finding was that lung tumour mortality exceeded that for the province of Varese, which is among the highest in Italy entered on the Register of Tumours. Genital and breast tumours were responsible for the highest number of deaths in women, while stomach cancer was the second cause of death in both sexes. The study will be completed with an analysis of tumour deaths during 1980 and 1981 in the province of Verona as a whole.
Explore the source record for details and available documents.