36 results on '"Guzzetta, V"'
Search Results
2. Italian SLOS Collaborative Group(1996). Clinical and biochemical screening for Smith-Lemli-Opitz syndrome
- Author
-
GUZZETTA V, DE FABIANI E, GALLI G, PARENTI G, ANDRIA, GENEROSO, Guzzetta, V, DE FABIANI, E, Galli, G, Parenti, G, and Andria, Generoso
- Published
- 1996
3. Molecucal and cytogenetic chracterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions
- Author
-
SEBASTIO, GIANFRANCO, DELLA CASA, ROBERTO, ANDRIA, GENEROSO, PERONE L., GUZZETTA V., SEBASTIO L., VICARI I., GURRIERI F., ZAPPATA S., POMPONIO M.G., MAZZEI A., NERI G., Sebastio, Gianfranco, Perone, L., Guzzetta, V., Sebastio, L., Vicari, I., DELLA CASA, Roberto, Gurrieri, F., Zappata, S., Pomponio, M. G., Mazzei, A., Neri, G., and Andria, Generoso
- Published
- 1996
4. Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group
- Author
-
Guzzetta, V, Defabiani, E, Galli, G, Colombo, C, Corso, G, Lecora, M, Parenti, G, Strisciuglio, P, Andria, G, Dirocco, M, Giannotti, S, Lupi, L, Selicorni, A, Clementi, Maurizio, Gabrielli, O, Pinto, L, Rizzo, A, Zelante, L., Guzzetta, V, De Fabiani, E, Galli, G, Colombo, C, Corso, G, Lecora, M, Parenti, G, Strisciuglio, Pietro, Andria, G., Parenti, Giancarlo, and Andria, Generoso
- Subjects
Bile Acids and Salts ,Male ,Dehydrocholesterols ,Adolescent ,Child, Preschool ,Humans ,Infant ,Female ,Spectrophotometry, Ultraviolet ,Child ,Sensitivity and Specificity ,Biomarkers ,Smith-Lemli-Opitz Syndrome - Abstract
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies/mental retardation disorder possibly due to a defect of delta 7-sterol reductase, leading to low plasma cholesterol levels and to the accumulation of 7-dehydrocholesterol (7-DHC) and other cholesterol precursors. This study aimed to identify clinical features that could potentially be specific indicators for the clinical diagnosis of SLOS, and to test the reliability of ultraviolet spectrophotometry (UVS) as a biochemical screening procedure for the syndrome. Twenty patients with clinical suspicion of SLOS, referred to 11 Italian paediatric and clinical genetic centres, were collected during 1994. In 10 patients the diagnosis was confirmed biochemically by gas chromatography/mass spectrometry (GC/MS) analysis of serum sterols, whereas in the other 10 patients the serum sterol profiles were normal. A comparison between confirmed SLOS patients and biochemically negative subjects did not show clinical signs specific for the syndrome. UVS measurement of 7-DHC correlated well with GC/MS profiles, showing 100% sensitivity and specificity. Four out of five patients had serum bile acid concentrations below the normal range of controls.
- Published
- 1996
5. Neurofibromatosi tipo 1: elevata frequenza di lesioni disembriogenetiche dell'encefalo
- Author
-
Guzzetta V, Orefice A, Romano A, Sebastio G, Andria G., DEL GIUDICE, ENNIO, Guzzetta, V, Orefice, A, DEL GIUDICE, Ennio, Romano, A, Sebastio, G, and Andria, G.
- Published
- 1995
6. SINDROME DISMORFICA ASSOCIATA A DUPLICAZIONE DE NOVO DEL BRACCIO CORTO DEL CROMOSOMA 2
- Author
-
PERONE L., LECORA M., GUZZETTA V., DE FRANCISCIS A., TOSCANO E. P., SEBASTIO G., ANDRIA G., DELLA CASA, ROBERTO, Perone, L., Lecora, M., DELLA CASA, Roberto, Guzzetta, V., DE FRANCISCIS, A., Toscano, E. P., Sebastio, G., and Andria, G.
- Published
- 1993
7. Aspetti neurologici e neuroradiologici della neurofibromatosi tipo 1
- Author
-
Lama G, Melone MAB, Conforti R, Tata MR, Guzzetta V, Ementato S, Marrone N, Sebastio G, Coletta M, Romano A, Andria G, DEL GIUDICE, ENNIO, Lama, G, Melone, Mab, Conforti, R, Tata, Mr, Guzzetta, V, Ementato, S, Marrone, N, Sebastio, G, Coletta, M, Romano, A, Andria, G, and DEL GIUDICE, Ennio
- Published
- 1993
8. Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p
- Author
-
GUZZETTA V, TRASK BJ, ZHANG H, SAUCEDO CARDENAS O, MONTES DE OCA LUNA R, GREENBERG F, CHINAULT AC, LUPSKI JR AND PATEL P.I., FRANCO, BRUNELLA, Guzzetta, V, Franco, Brunella, Trask, Bj, Zhang, H, SAUCEDO CARDENAS, O, MONTES DE OCA LUNA, R, Greenberg, F, Chinault, Ac, and LUPSKI JR AND PATEL, P. I.
- Published
- 1992
9. CHARCOT-MARIE-TOOTH-DISEASE - MOLECULAR CHARACTERIZATION OF PATIENTS FROM CENTRAL AND SOUTHERN ITALY
- Author
-
Guzzetta, V, Santoro, L, Gasparorippa, P, Ragno, M, Vita, Giuseppe, Caruso, G, and Andria, G.
- Published
- 1995
10. Charcot-Marie-Tooth disease: molecular characterization of patients from Central and Southern Italy
- Author
-
Guzzetta, V., primary, Santoro, L., additional, Gasparo-Rippa, P., additional, Ragno, M., additional, Vita, G., additional, Caruso, G., additional, and Andria, G., additional
- Published
- 2008
- Full Text
- View/download PDF
11. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2)
- Author
-
Greenberg, F, Guzzetta, V, Montes de Oca-Luna, R, Magenis, R E, Smith, A C, Richter, S F, Kondo, I, Dobyns, W B, Patel, P I, and Lupski, J R
- Subjects
Adult ,Genetic Markers ,Male ,Parents ,Adolescent ,Base Sequence ,Molecular Sequence Data ,Infant ,Syndrome ,Middle Aged ,Chromosome Banding ,Pedigree ,Child, Preschool ,Intellectual Disability ,Humans ,Female ,Chromosome Deletion ,Child ,Research Article ,Aged ,Chromosomes, Human, Pair 17 - Abstract
We undertook clinical evaluation (32 cases) and molecular evaluation (31 cases) of unrelated patients affected with Smith-Magenis syndrome (SMS) associated with an interstitial deletion of band p11.2 of chromosome 17. Patients were evaluated both clinically and electrophysiologically for peripheral neuropathy, since markers showing close linkage to one form of Charcot-Marie-Tooth disease (CMT1A) map to this chromosomal region. The common clinical findings were broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, speech delay, and hoarse, deep voice. Fifty-five percent of the patients showed clinical signs (e.g., decreased or absent deep tendon reflexes, pes planus or pes cavus, decreased sensitivity to pain, and decreased leg muscle mass) suggestive of peripheral neuropathy. However, unlike patients with CMT1A, these patients demonstrated normal nerve conduction velocities. Self-destructive behaviors, primarily onychotillomania and polyembolokoilamania, were observed in 67% of the patients, and significant symptoms of sleep disturbance were observed in 62%. The absence of REM sleep was demonstrated by polysomnography in two patients. Southern analysis indicated that most patients were deleted for five 17p11.2 markers--FG1 (D17S446), 1516 (D17S258), pYNM67-R5 (D17S29), pA10-41 (D17S71), and pS6.1-HB2 (D17S445)--thus defining a region which appears to be critical to SMS. The deletion was determined to be of paternal origin in nine patients and of maternal origin in six patients. The apparent random parental origin of deletion documented in 15 patients suggests that genomic imprinting does not play a role in the expression of the SMS clinical phenotype. Our findings suggest that SMS is likely a contiguous-gene deletion syndrome which comprises characteristic clinical features, developmental delay, clinical signs of peripheral neuropathy, abnormal sleep function, and specific behavioral anomalies.
- Published
- 1991
12. Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum
- Author
-
GUZZETTA, V, primary, LECORA, M, additional, ROSSI, G, additional, CANANI, M BERNI, additional, and ANDRIA, G, additional
- Published
- 1996
- Full Text
- View/download PDF
13. GENETIC STUDY OF HUMAN ADULT-TYPE HYPOLACTASIA BY ANALYSIS OF RESTRICTION FRAGMENT LENCHT POLYMORPHISHS (RFLPs) OF THE LACTASE GENE
- Author
-
Sebastio, C, primary, Guzzetta, V, additional, De Vizia, B, additional, Ballabio, A, additional, Boll, W, additional, Mantei, N, additional, Semenza, G, additional, and Auricchio, S, additional
- Published
- 1990
- Full Text
- View/download PDF
14. Charcot-Marie-Tooth disease: molecular characterization of patients from Central and Southern Italy.
- Author
-
Guzzetta, V., Santoro, L., Gasparo-Rippa, P., Ragno, M., Vita, G., Caruso, G., and Andria, G.
- Published
- 1995
- Full Text
- View/download PDF
15. Characterization of phenylketonuria alleles in the Italian population
- Author
-
Dianzani, I., Giannattasio, S., Sanctis, L., Alliaudi, C., Paolo LATTANZIO, Dionisi Vici, C., Burlina, A., Burroni, M., Sebastio, G., Carnevale, F., Guzzetta, V., Marra, E., Camaschella, C., and Ponzone, A.
- Subjects
congenital, hereditary, and neonatal diseases and abnormalities ,nutritional and metabolic diseases - Abstract
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.
16. MOLECULAR STUDY OF ADULT HYPOLACTASIA IN RABBIT AND HUMAN SMALL INTESTINE
- Author
-
Sebastio, G, primary, Sartorio, R, additional, Guzzetta, V, additional, Auricchio, S, additional, Mantei, N, additional, Villa, M, additional, and Semenza, G, additional
- Published
- 1989
- Full Text
- View/download PDF
17. Unbalanced translocation (3;5)(q26.1;p14): A clinical report
- Author
-
Lucia Perone, Vito Guzzetta, Emilia Iaccarino, Generoso Andria, Maria Vittoria Andreucci, Maria Grazia Marzano, Daniele De Brasi, Pasqua Di Micco, Massimiliano Rossi, Giovanna Roberta Vega, Rossi, M, Di Micco, P, Perone, L, De Brasi, D, Guzzetta, V, Andreucci, Mv, Vega, Gr, Marzano, Mg, Iaccarino, E, and Andria, Generoso
- Subjects
Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Monosomy ,medicine.medical_specialty ,Pathology ,Chromosomal translocation ,Biology ,Translocation, Genetic ,Diagnosis, Differential ,Fatal Outcome ,Intellectual Disability ,Internal medicine ,Gene duplication ,medicine ,Humans ,Abnormalities, Multiple ,translocation (3,5)(q26.1,p14) ,Genetics (clinical) ,Infant ,Karyotype ,medicine.disease ,Smith-Lemli-Opitz Syndrome ,Endocrinology ,Smith–Lemli–Opitz syndrome ,Child, Preschool ,Karyotyping ,dup ,Chromosomes, Human, Pair 5 ,Chromosomes, Human, Pair 3 ,Differential diagnosis ,Trisomy - Abstract
A patient with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome had an unbalanced translocation (3;5)(q26.1;p14), causing partial 5p monosomy and partial 3q trisomy. The phenotype observed in this patient results from the combination of those described in the isolated dup(3q) and del(5p) syndromes. Some clinical features of this patient are shared by the Smith-Lemli-Opitz syndrome (SLOS), a well-known MCA/MR syndrome due to the deficiency of 7-dehydrocholesterol reductase (DHCR7). We review the previously reported cases of chromosomal anomalies with clinical features suggesting SLOS.
- Published
- 2002
18. Polysyndactyly and trigonocephaly with partial agenesis of corpus callosum
- Author
-
Rossi G, Guzzetta, Lecora M, Berni Canani M, Andria G, Guzzetta, V, Lecora, M, Rossi, G, Berni Canani, M, and Andria, Generoso
- Subjects
trigonocephaly ,Partial agenesis ,business.industry ,Trigonocephaly ,General Medicine ,Anatomy ,medicine.disease ,Corpus callosum ,Pathology and Forensic Medicine ,nervous system ,Polysyndactyly ,Pediatrics, Perinatology and Child Health ,medicine ,Craniofacial ,business ,corpus callosum ,Genetics (clinical) ,Dysmorphic facies - Abstract
Several malformation syndromes which include polysyndactyly and craniofacial anomalies have been described. We report a case of an 11-month-old boy with a pattern of anomalies including polysyndactyly, trigonocephaly, partial agenesis of corpus callosum and dysmorphic facies.
- Published
- 1996
19. Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene
- Author
-
G. Parenti, Sergio Giannattasio, G. Andria, Daniela Concolino, Giuseppe Bonapace, Gianfranco Sebastio, M. Lecora, V. Guzzetta, Irma Dianzani, Pietro Strisciuglio, Guzzetta, V, Bonapace, G, Dianzani, I, Parenti, G, Lecora, M, Giannattasio, S, Concolino, D, Strisciuglio, Pietro, Sebastio, G, Andria, G., Parenti, Giancarlo, Sebastio, Gianfranco, and Andria, Generoso
- Subjects
Adult ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Phenylalanine hydroxylase ,Adolescent ,Genotype ,Biology ,medicine.disease_cause ,Polymorphism (computer science) ,Phenylketonurias ,Genetics ,medicine ,Humans ,Allele ,Transversion ,Child ,Gene ,Genetics (clinical) ,Polymorphism, Single-Stranded Conformational ,chemistry.chemical_classification ,Mutation ,Infant ,Phenylalanine Hydroxylase ,nutritional and metabolic diseases ,Enzyme ,Phenotype ,chemistry ,Child, Preschool ,biology.protein ,Female - Abstract
Phenylketonuria (PKU) is an autosomal recessive disease caused by the deficiency of a liver-specific enzyme, phenylalanine hydroxylase (PAH). The pattern of PAH mutations in Mediterranean populations appears to be different from that observed in northern Europe and Asia. Our aim was to study the molecular basis of PKU in Campania and Calabria, two regions of southern Italy. We studied 99 unrelated alleles, detecting 75.8% of the mutations. Our results show that 57% of all the PKU alleles are caused by three different mutations: IVS10nt-546, R261Q and L48S, which display significant differences in their relative distribution across Italy. A novel mutation, a G-to-T transversion at the codon 257 (G257C), was also identified. This mutation results in a Gly-to-Cys change in the catalytic domain of the protein.
- Published
- 1997
20. Cutis verticis gyrata--mental deficiency syndrome: a patient with drug-resistant epilepsy and polymicrogyria
- Author
-
Vito Guzzetta, Sossio Cirillo, Lucia Perone, P. Ruosi, Andrea Manto, Salvatore Striano, Striano, Salvatore, Ruosi, P, Guzzetta, V, Perone, L, Manto, A, Cirillo, S., Striano, S, and Cirillo, Sossio
- Subjects
Adult ,Male ,medicine.medical_specialty ,Cutis ,Central nervous system disease ,Epilepsy ,Intellectual Disability ,medicine ,Polymicrogyria ,Humans ,Scalp ,Psychomotor retardation ,business.industry ,Syndrome ,medicine.disease ,Drug Resistant Epilepsy ,Dermatology ,Magnetic Resonance Imaging ,Surgery ,medicine.anatomical_structure ,Neurology ,Cutis verticis gyrata ,Neurology (clinical) ,Chromosomes, Human, Pair 3 ,Occipital Lobe ,medicine.symptom ,business ,Chromosomes, Human, Pair 16 - Abstract
We report a case of cutis verticis gyrata-mental deficiency syndrome (CVG-MD) which was associated with drug-resistant epilepsy and bilateral occipital polymicrogyria. Genetic analysis showed an increased number of breaks at the 3p14 and 16q23 sites. We hypothesize that a deleterious factor acting at a critical period of intrauterine development could result in the cerebral malformation and in the development of CVG. Neuroradiological investigation is warranted in cases of CVG-MD.
- Published
- 1996
21. Charcot-Marie-Tooth disease: Molecular characterization of patients from Central and Southern Italy
- Author
-
V. Guzzetta, P. Gasparo-Rippa, Giuseppe Caruso, Lucia Santoro, Giuseppe Vita, Michele Ragno, Generoso Andria, Guzzetta, V, Santoro, Lucio, Gasparo Rippa, P, Ragno, M, Vita, G, Caruso, G, and Andria, Generoso
- Subjects
Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Genotype ,Genetic Linkage ,Locus (genetics) ,Pedigree chart ,Biology ,symbols.namesake ,Tandem repeat ,Charcot-Marie-Tooth Disease ,Gene duplication ,Genetics ,Humans ,Genetics (clinical) ,Repetitive Sequences, Nucleic Acid ,Polymorphism, Genetic ,Chromosome Mapping ,Peroneal muscular atrophy ,Pedigree ,Blotting, Southern ,Phenotype ,Italy ,Mendelian inheritance ,symbols ,Female ,Tandem exon duplication ,Chromosomes, Human, Pair 17 - Abstract
The syndrome of peroneal muscular atrophy, or Charcot-Marie-Tooth (CMT), disease represents the most common inherited peripheral neuropathy, with a prevalence of about 1 per 2500. The disease is usually transmitted in an autosomal dominant fashion, although it can display all the mendelian patterns of inheritance. The chromosome 17-linked form (CMT1a) appears to be the most common form of the disease in all the ethnic groups studied so far, Italians included, and is due to a tandem duplication in 17p11.2. In order to study the distribution of CMT types and to establish a genotype-phenotype correlation in patients from Central and Southern Italy, we collected 19 CMT pedigrees diagnosed in the years 1992-1993. Simple tandem repeats (STR) polymorphism analysis with the marker RM 11-GT and Southern blotting with the probes pVAW409R3 and pVAW412 were performed, demonstrating a high prevalence (about 60%) of 17p duplication in the families studied. No clinical or electrophysiological differences were noted between CMT1 patients with or without 17p duplication, respectively. Two families affected by CMT2 showed no evidence of rearrangement at the D17S122 locus. These data are consistent with the hypothesis of a different molecular basis for CMT2
22. Detection of influenza virus in urban wastewater during the season 2022/2023 in Sicily, Italy.
- Author
-
Maida CM, Mazzucco W, Priano W, Palermo R, Graziano G, Costantino C, Russo A, Andolina G, Restivo I, Giangreco V, Iaia FR, Santino A, Li Muli R, Guzzetta V, Vitale F, and Tramuto F
- Subjects
- Sicily epidemiology, Humans, Seasons, Influenza B virus isolation & purification, Influenza B virus genetics, RNA, Viral analysis, Cities epidemiology, Influenza, Human epidemiology, Influenza, Human virology, Wastewater virology, Influenza A virus isolation & purification, Influenza A virus genetics
- Abstract
Introduction: Seasonal influenza generally represents an underestimated public health problem with significant socioeconomic implications. Monitoring and detecting influenza epidemics are important tasks that require integrated strategies. Wastewater-based epidemiology (WBE) is an emerging field that uses wastewater data to monitor the spread of disease and assess the health of a community. It can represent an integrative surveillance tool for better understanding the epidemiology of influenza and prevention strategies in public health., Methods: We conducted a study that detected the presence of Influenza virus RNA using a wastewater-based approach. Samples were collected from five wastewater treatment plants in five different municipalities, serving a cumulative population of 555,673 Sicilian inhabitants in Italy. We used the RT-qPCR test to compare the combined weekly average of Influenza A and B viral RNA in wastewater samples with the average weekly incidence of Influenza-like illness (ILI) obtained from the Italian national Influenza surveillance system. We also compared the number of positive Influenza swabs with the viral RNA loads detected from wastewater. Our study investigated 189 wastewater samples., Results: Cumulative ILI cases substantially overlapped with the Influenza RNA load from wastewater samples. Influenza viral RNA trends in wastewater samples were similar to the rise of ILI cases in the population. Therefore, wastewater surveillance confirmed the co-circulation of Influenza A and B viruses during the season 2022/2023, with a similar trend to that reported for the weekly clinically confirmed cases., Conclusion: Wastewater-based epidemiology does not replace traditional epidemiological surveillance methods, such as laboratory testing of samples from infected individuals. However, it can be a valuable complement to obtaining additional information on the incidence of influenza in the population and preventing its spread., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (Copyright © 2024 Maida, Mazzucco, Priano, Palermo, Graziano, Costantino, Russo, Andolina, Restivo, Giangreco, Iaia, Santino, Li Muli, Guzzetta, Vitale and Tramuto.)
- Published
- 2024
- Full Text
- View/download PDF
23. SARS-CoV-2 genomic surveillance of migrants arriving to Europe through the Mediterranean routes.
- Author
-
Tramuto F, Marotta C, Stefanelli P, Cernigliaro A, Maida CM, Silenzi A, Angeloni U, Di Naro D, Randazzo G, Guzzetta V, Barone T, Brusaferro S, Severoni S, Rezza G, Vitale F, and Mazzucco W
- Subjects
- Humans, Europe epidemiology, Genome, Viral, Refugees statistics & numerical data, Mediterranean Sea epidemiology, Italy epidemiology, Male, COVID-19 epidemiology, COVID-19 virology, SARS-CoV-2 genetics, Transients and Migrants statistics & numerical data
- Abstract
Background: The implementation genomic-based surveillance on emerging severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants in low-income countries, which have inadequate molecular and sequencing capabilities and limited vaccine storage, represents a challenge for public health. To date, there is little evidence on molecular investigations of SARS-CoV-2 variants in areas where they might emerge. We report the findings of an experimental SARS-CoV-2 molecular surveillance programme for migrants, refugees, and asylum seekers arriving to Europe via Italy through the Mediterranean Sea., Methods: We descriptively analysed data on migrants collected at entry points in Sicily from February 2021 to May 2022. These entry points are integrated with a network of laboratories fully equipped for molecular analyses, which performed next-generation sequencing and used Nextclade and the Pangolin coronavirus disease 2019 (COVID-19) tools for clade/lineage assignment., Results: We obtained 472 full-length SARS-CoV-2 sequences and identified 12 unique clades belonging to 31 different lineages. The delta variant accounted for 43.6% of all genomes, followed by clades 21D (Eta) and 20A (25.4% and 11.4%, respectively). Notably, some of the identified lineages (A.23.1, A.27, and A.29) predicted their introduction into the migration area. The mutation analysis allowed us to identify 617 different amino acid substitutions, 156 amino acid deletions, 7 stop codons, and 6 amino acid insertions. Lastly, we highlighted the geographical distribution patterns of some mutational profiles occurring in the migrants' countries of origin., Conclusions: Genome-based molecular surveillance dedicated to migrant populations from low-resource areas may be useful for forecasting new epidemiological scenarios related to SARS-CoV-2 variants or other emerging pathogens, as well as for informing the updating of vaccination strategies., Competing Interests: Disclosure of interest: The authors completed the ICMJE Disclosure of Interest Form (available upon request from the corresponding author) and disclose no relevant interests., (Copyright © 2024 by the Journal of Global Health. All rights reserved.)
- Published
- 2024
- Full Text
- View/download PDF
24. Whole-Genome Sequencing and Genetic Diversity of Human Respiratory Syncytial Virus in Patients with Influenza-like Illness in Sicily (Italy) from 2017 to 2023.
- Author
-
Tramuto F, Maida CM, Randazzo G, Guzzetta V, Santino A, Li Muli R, Costantino C, Graziano G, Amodio E, Mazzucco W, and Vitale F
- Subjects
- Humans, Sicily epidemiology, Child, Preschool, Infant, Female, Male, Child, Adult, Adolescent, Genome, Viral, Middle Aged, Young Adult, Aged, Influenza, Human virology, Influenza, Human epidemiology, Amino Acid Substitution, Infant, Newborn, Respiratory Syncytial Virus, Human genetics, Respiratory Syncytial Virus, Human classification, Respiratory Syncytial Virus, Human immunology, Genetic Variation, Respiratory Syncytial Virus Infections virology, Respiratory Syncytial Virus Infections epidemiology, Phylogeny, Whole Genome Sequencing, Genotype
- Abstract
Monitoring the genetic variability of human respiratory syncytial virus (hRSV) is of paramount importance, especially for the potential implication of key antigenic mutations on the emergence of immune escape variants. Thus, to describe the genetic diversity and evolutionary dynamics of hRSV circulating in Sicily (Italy), a total of 153 hRSV whole-genome sequences collected from 770 hRSV-positive subjects between 2017 and 2023, before the introduction of expanded immunization programs into the population, were investigated. The phylogenetic analyses indicated that the genotypes GA.2.3.5 (ON1) for hRSV-A and GB.5.0.5a (BA9) for hRSV-B co-circulated in our region. Amino acid (AA) substitutions in the surface and internal proteins were evaluated, including the F protein antigenic sites, as the major targets of immunoprophylactic monoclonal antibodies and vaccines. Overall, the proportion of AA changes ranged between 1.5% and 22.6% among hRSV-A, whereas hRSV-B varied in the range 0.8-16.9%; the latter was more polymorphic than hRSV-A within the key antigenic sites. No AA substitutions were found at site III of both subgroups. Although several non-synonymous mutations were found, none of the polymorphisms known to potentially affect the efficacy of current preventive measures were documented. These findings provide new insights into the global hRSV molecular epidemiology and highlight the importance of defining a baseline genomic picture to monitor for future changes that might be induced by the selective pressures of immunological preventive measures, which will soon become widely available.
- Published
- 2024
- Full Text
- View/download PDF
25. Unbalanced translocation (3;5)(q26.1;p14): a clinical report.
- Author
-
Rossi M, Di Micco P, Perone L, De Brasi D, Guzzetta V, Andreucci MV, Vega GR, Marzano MG, Iaccarino E, and Andria G
- Subjects
- Abnormalities, Multiple genetics, Abnormalities, Multiple pathology, Child, Preschool, Diagnosis, Differential, Fatal Outcome, Humans, Infant, Intellectual Disability pathology, Karyotyping, Male, Smith-Lemli-Opitz Syndrome genetics, Smith-Lemli-Opitz Syndrome pathology, Chromosomes, Human, Pair 3 genetics, Chromosomes, Human, Pair 5 genetics, Translocation, Genetic
- Abstract
A patient with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome had an unbalanced translocation (3;5)(q26.1;p14), causing partial 5p monosomy and partial 3q trisomy. The phenotype observed in this patient results from the combination of those described in the isolated dup(3q) and del(5p) syndromes. Some clinical features of this patient are shared by the Smith-Lemli-Opitz syndrome (SLOS), a well-known MCA/MR syndrome due to the deficiency of 7-dehydrocholesterol reductase (DHCR7). We review the previously reported cases of chromosomal anomalies with clinical features suggesting SLOS., (Copyright 2002 Wiley-Liss, Inc.)
- Published
- 2002
- Full Text
- View/download PDF
26. Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs.
- Author
-
Pignata C, Fiore M, Guzzetta V, Castaldo A, Sebastio G, Porta F, and Guarino A
- Subjects
- Alopecia complications, Alopecia immunology, B-Lymphocytes pathology, Bone Marrow Transplantation, CD3 Complex, Female, Humans, Immunologic Deficiency Syndromes genetics, Immunologic Deficiency Syndromes therapy, Infant, Infant, Newborn, Killer Cells, Natural pathology, Nail Diseases genetics, Nails pathology, Pregnancy, Severe Combined Immunodeficiency genetics, Severe Combined Immunodeficiency immunology, Alopecia congenital, Immunologic Deficiency Syndromes complications, Nail Diseases complications, Nail Diseases immunology, Severe Combined Immunodeficiency complications, T-Lymphocytes pathology
- Abstract
We report on two sisters affected by congenital alopecia, nail dystrophy, and a severe T-cell immunodeficiency, presumably inherited as an autosomal-recessive disorder. The T-cell defect was characterized by severe functional impairment, as shown by the lack of proliferative response and upregulation of activation markers following mitogen stimulation. The functional abnormality occurred in spite of the presence of phenotypically mature of the defect. This is the first observation reported on an ectodermal disorder, characterized by alopecia and nail dystrophy, observed at birth, in association with a primary immunodeficiency. The hypothesis that these two events may be casually related is discussed.
- Published
- 1996
- Full Text
- View/download PDF
27. Clinical and biochemical screening for Smith-Lemli-Opitz syndrome. Italian SLOS Collaborative Group.
- Author
-
Guzzetta V, De Fabiani E, Galli G, Colombo C, Corso G, Lecora M, Parenti G, Strisciuglio P, and Andria G
- Subjects
- Adolescent, Bile Acids and Salts blood, Biomarkers blood, Child, Child, Preschool, Female, Humans, Infant, Male, Sensitivity and Specificity, Spectrophotometry, Ultraviolet, Dehydrocholesterols blood, Smith-Lemli-Opitz Syndrome blood, Smith-Lemli-Opitz Syndrome diagnosis
- Abstract
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies/mental retardation disorder possibly due to a defect of delta 7-sterol reductase, leading to low plasma cholesterol levels and to the accumulation of 7-dehydrocholesterol (7-DHC) and other cholesterol precursors. This study aimed to identify clinical features that could potentially be specific indicators for the clinical diagnosis of SLOS, and to test the reliability of ultraviolet spectrophotometry (UVS) as a biochemical screening procedure for the syndrome. Twenty patients with clinical suspicion of SLOS, referred to 11 Italian paediatric and clinical genetic centres, were collected during 1994. In 10 patients the diagnosis was confirmed biochemically by gas chromatography/mass spectrometry (GC/MS) analysis of serum sterols, whereas in the other 10 patients the serum sterol profiles were normal. A comparison between confirmed SLOS patients and biochemically negative subjects did not show clinical signs specific for the syndrome. UVS measurement of 7-DHC correlated well with GC/MS profiles, showing 100% sensitivity and specificity. Four out of five patients had serum bile acid concentrations below the normal range of controls.
- Published
- 1996
- Full Text
- View/download PDF
28. Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): relevance to the Wolf-Hirschhorn and Down syndrome critical regions.
- Author
-
Sebastio G, Perone L, Guzzetta V, Sebastio L, Vicari L, Della Casa R, Gurrieri F, Zappata S, Pomponi MG, Mazzei A, Neri G, Andria G, and Brahe C
- Subjects
- Abnormalities, Multiple physiopathology, Cells, Cultured, Child, Preschool, Down Syndrome genetics, Female, Humans, In Situ Hybridization, Fluorescence, Infant, Male, Monosomy, Pedigree, Recurrence, Syndrome, Trisomy, Abnormalities, Multiple genetics, Chromosomes, Human, Pair 21, Chromosomes, Human, Pair 4, Translocation, Genetic
- Abstract
We report on an aneuploidy syndrome due to the unbalanced segregation of a familial translocation (4;21)(p16.3;q22.1) causing a partial 4p monosomy and a partial 21q trisomy. The three affected children presented with severe failure to thrive, short stature, microcephaly, profound hypotonia, and mental retardation. The face, very similar in the three children, is characterized by frontal bossing, upslanting of the palpebral fissures, short nose, and deep set ears, giving the overall appearance of the Down syndrome. The molecular study has defined the aneuploid segment on both 4p and 21q. Most of the Down syndrome critical region was found to the trisomic, while only part of the candidate Wolf-Hirschhorn syndrome critical region was deleted, suggesting that this region is not critical for the major malformations characteristic for WHS.
- Published
- 1996
- Full Text
- View/download PDF
29. Cutis verticis gyrata--mental deficiency syndrome: a patient with drug-resistant epilepsy and polymicrogyria.
- Author
-
Striano S, Ruosi P, Guzzetta V, Perone L, Manto A, and Cirillo S
- Subjects
- Adult, Chromosomes, Human, Pair 16 ultrastructure, Chromosomes, Human, Pair 3 ultrastructure, Humans, Magnetic Resonance Imaging, Male, Syndrome, Epilepsy genetics, Intellectual Disability genetics, Occipital Lobe abnormalities, Scalp abnormalities
- Abstract
We report a case of cutis verticis gyrata-mental deficiency syndrome (CVG-MD) which was associated with drug-resistant epilepsy and bilateral occipital polymicrogyria. Genetic analysis showed an increased number of breaks at the 3p14 and 16q23 sites. We hypothesize that a deleterious factor acting at a critical period of intrauterine development could result in the cerebral malformation and in the development of CVG. Neuroradiological investigation is warranted in cases of CVG-MD.
- Published
- 1996
- Full Text
- View/download PDF
30. Cost-effective carotid endarterectomy in community practice.
- Author
-
Gibbs BF, Guzzetta VJ, and Furmanski D
- Subjects
- California, Cost-Benefit Analysis, Humans, Retrospective Studies, Treatment Outcome, Endarterectomy, Carotid economics, Hospital Charges, Hospitals, Community economics
- Abstract
The purpose of this study was to compare hospital charges for carotid endarterectomy on a surgeon-specific basis. The cost of carotid endarterectomy is influenced by preoperative evaluation, operating time, use of the intensive care unit, length of hospital stay, and surgical results. Length of stay and average hospital charges for 18 doctors performing 344 carotid endarterectomies at three hospitals were analyzed. Outcome data were also reviewed. The results demonstrated a wide variation in hospital charges among surgeons. Surgeons using the most cost-effective measures achieved comparable or superior outcomes. In an era of managed care, severe cost constraints mandate that surgeons perform similar studies in their own communities so that cost-effective clinical pathways can be developed. With the use of appropriate guidelines, carotid endarterectomy can be performed at relatively low cost without sacrificing quality.
- Published
- 1995
- Full Text
- View/download PDF
31. Surgical treatment of aneurysm of the persistent sciatic artery.
- Author
-
Wolf YG, Gibbs BF, Guzzetta VJ, and Bernstein EF
- Subjects
- Aged, Aneurysm diagnosis, Aneurysm etiology, Angiography, Arteries surgery, Buttocks blood supply, Female, Humans, Magnetic Resonance Imaging, Male, Sciatic Nerve blood supply, Aneurysm surgery, Arteries abnormalities
- Abstract
Persistent sciatic artery (PSA) is a rare congenital malformation that is complicated by aneurysm formation in more than 25% of the reported cases. Two cases of aneurysm of the PSA are presented. Twenty-six aneurysms of the PSA, including our two cases, have been reported in the English literature in the last three decades. Early surgical treatment is warranted to decrease the 25% amputation rate associated with thromboembolic complications. The posterior, transgluteal repair of this aneurysm affords excellent exposure and avoids a long bypass graft, multiple incisions, and staged procedures. Magnetic resonance imaging may be helpful in preoperative evaluation of the feasibility of proximal, extrapelvic vascular control.
- Published
- 1993
- Full Text
- View/download PDF
32. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).
- Author
-
Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, and Lupski JR
- Subjects
- Adolescent, Adult, Aged, Base Sequence, Child, Child, Preschool, Chromosome Banding, Female, Genetic Markers, Humans, Infant, Intellectual Disability physiopathology, Male, Middle Aged, Molecular Sequence Data, Parents, Pedigree, Syndrome, Chromosome Deletion, Chromosomes, Human, Pair 17, Intellectual Disability genetics
- Abstract
We undertook clinical evaluation (32 cases) and molecular evaluation (31 cases) of unrelated patients affected with Smith-Magenis syndrome (SMS) associated with an interstitial deletion of band p11.2 of chromosome 17. Patients were evaluated both clinically and electrophysiologically for peripheral neuropathy, since markers showing close linkage to one form of Charcot-Marie-Tooth disease (CMT1A) map to this chromosomal region. The common clinical findings were broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, speech delay, and hoarse, deep voice. Fifty-five percent of the patients showed clinical signs (e.g., decreased or absent deep tendon reflexes, pes planus or pes cavus, decreased sensitivity to pain, and decreased leg muscle mass) suggestive of peripheral neuropathy. However, unlike patients with CMT1A, these patients demonstrated normal nerve conduction velocities. Self-destructive behaviors, primarily onychotillomania and polyembolokoilamania, were observed in 67% of the patients, and significant symptoms of sleep disturbance were observed in 62%. The absence of REM sleep was demonstrated by polysomnography in two patients. Southern analysis indicated that most patients were deleted for five 17p11.2 markers--FG1 (D17S446), 1516 (D17S258), pYNM67-R5 (D17S29), pA10-41 (D17S71), and pS6.1-HB2 (D17S445)--thus defining a region which appears to be critical to SMS. The deletion was determined to be of paternal origin in nine patients and of maternal origin in six patients. The apparent random parental origin of deletion documented in 15 patients suggests that genomic imprinting does not play a role in the expression of the SMS clinical phenotype. Our findings suggest that SMS is likely a contiguous-gene deletion syndrome which comprises characteristic clinical features, developmental delay, clinical signs of peripheral neuropathy, abnormal sleep function, and specific behavioral anomalies.
- Published
- 1991
33. DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
- Author
-
Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, and Patel PI
- Subjects
- Animals, Blotting, Southern, Chromosome Mapping, Cricetinae, Cricetulus, DNA genetics, DNA isolation & purification, Genes, Dominant, Genetic Linkage, Genetic Markers, Homozygote, Humans, Hybrid Cells cytology, Mutation, Pedigree, Polymorphism, Restriction Fragment Length, Charcot-Marie-Tooth Disease genetics, Chromosomes, Human, Pair 17, DNA Replication
- Abstract
Charcot-Marie-tooth disease type 1A (CMT1A) was localized by genetic mapping to a 3 cM interval on human chromosome 17p. DNA markers within this interval revealed a duplication that is completely linked and associated with CMT1A. The duplication was demonstrated in affected individuals by the presence of three alleles at a highly polymorphic locus, by dosage differences at RFLP alleles, and by two-color fluorescence in situ hybridization. Pulsed-field gel electrophoresis of genomic DNA from patients of different ethnic origins showed a novel SacII fragment of 500 kb associated with CMT1A. A severely affected CMT1A offspring from a mating between two affected individuals was demonstrated to have this duplication present on each chromosome 17. We have demonstrated that failure to recognize the molecular duplication can lead to misinterpretation of marker genotypes for affected individuals, identification of false recombinants, and incorrect localization of the disease locus.
- Published
- 1991
- Full Text
- View/download PDF
34. Isolation of region-specific and polymorphic markers from chromosome 17 by restricted Alu polymerase chain reaction.
- Author
-
Guzzetta V, Montes de Oca-Luna R, Lupski JR, and Patel PI
- Subjects
- Animals, Cell Line, Humans, Hybrid Cells, Mice, Polymerase Chain Reaction, Repetitive Sequences, Nucleic Acid, Chromosomes, Human, Pair 17, Genetic Markers, Polymorphism, Genetic
- Abstract
We demonstrate that the digestion of template DNAs with restriction endonucleases prior to Alu polymerase chain reaction ("restricted Alu-PCR") reduces the complexity of the Alu-primed amplification patterns of human DNA in somatic cell hybrids and allows a direct informative comparison of these patterns. A comparison of restricted Alu-PCR patterns of a monochromosomal hybrid retaining a human chromosome 17 (MH22-6) and a hybrid retaining a human chromosome 17 deleted for band p11.2 (DH110-D1) revealed four Alu-PCR products that were present in the former but absent in the latter hybrid. Hybridization of these fragments to the total Alu-PCR amplification products of the two hybrids confirmed their absence in DH110-D1 amplification products. Hybridization to a panel of somatic cell hybrids indicated that two of these fragments were deleted in the hybrid DH110-D1 and mapped to 17p11.2, as expected. However, two additional fragments were not deleted in the hybrid DH110-D1 and mapped to other regions of chromosome 17. An insertion-deletion polymorphism was associated with one of the latter fragments, which may be the mechanism for the lack of its amplification in the hybrid DH110-D1. Restricted Alu-PCR should enhance the applications of Alu-PCR and provides a new method for the identification of chromosome-specific polymorphic markers.
- Published
- 1991
- Full Text
- View/download PDF
35. Carotid endarterectomy in community practice: surgeon-specific versus institutional results.
- Author
-
Gibbs BF and Guzzetta VJ
- Subjects
- Adult, Aged, Aged, 80 and over, Cerebrovascular Disorders etiology, Endarterectomy adverse effects, Endarterectomy mortality, Female, Hospitals, Community standards, Hospitals, Urban standards, Humans, Male, Middle Aged, Outcome and Process Assessment, Health Care, Postoperative Complications, Retrospective Studies, Technology Assessment, Biomedical, Carotid Arteries surgery, Endarterectomy standards, Hospital Departments standards, Medical Audit, Surgery Department, Hospital standards
- Abstract
The efficacy of carotid endarterectomy in preventing stroke is clearly related to appropriate patient selection and low surgical morbidity and mortality. It has been suggested that since results at some centers are better than nationwide statistics, perhaps the operation should be limited to those institutions. In this paper we present an experience with carotid endarterectomy over the past twelve years. These 566 consecutive cases were performed by two vascular surgeons in a large metropolitan area using thirteen different hospitals ranging from 150 to 500 beds. Our mortality of 0.5% and permanent stroke incidence of 1.6% did not vary significantly from hospital to hospital. Where the results of surgical audits were available from the individual hospitals, the overall complication rates were significantly higher. We conclude that individual surgeons, not institutions, determine the efficacy of carotid endarterectomy in community practice.
- Published
- 1989
- Full Text
- View/download PDF
36. Control of lactase in human adult-type hypolactasia and in weaning rabbits and rats.
- Author
-
Sebastio G, Villa M, Sartorio R, Guzzetta V, Poggi V, Auricchio S, Boll W, Mantei N, and Semenza G
- Subjects
- Adult, Aged, Aging, Animals, Blotting, Northern, Gestational Age, Humans, Intestinal Mucosa embryology, Intestinal Mucosa growth & development, Intestine, Small embryology, Jejunum growth & development, Lactase, Middle Aged, RNA genetics, RNA isolation & purification, RNA, Messenger analysis, RNA, Messenger genetics, Rabbits, Rats, Rats, Inbred Strains, Restriction Mapping, Sucrase metabolism, Weaning, alpha-Glucosidases metabolism, beta-Galactosidase deficiency, beta-Galactosidase metabolism, Intestinal Mucosa enzymology, Intestine, Small growth & development, beta-Galactosidase genetics
- Abstract
Lactase is an enterocyte brush-border membrane beta-glycosidase that splits lactose, the sugar of milk. In mammals, including many human populations, intestinal lactase activity is very high in the suckling and declines to low levels after weaning. There are two human adult lactase phenotypes, one in which high lactase activity persists and another in which it declines. Two alleles have been postulated to explain these different phenotypes. In the present study lactase mRNA levels have been investigated in the small intestine (a) of rabbits and rats, at different ages, considered as models for mammals, and (b) of human adults with the two lactase phenotypes. In rabbits and rats, high levels of lactase mRNA are present up to the weaning period, a time at which a consistent decrease of this mRNA is found, a decrease that parallels that of lactase activity. It is surprising that after this period adult animals of both species express again high levels of lactase mRNA, whereas lactase activity remains at very low levels. Our results suggest that in the adult rabbits and rats the main control of lactase gene expression is likely to be at a posttranscriptional level. Similarly, in man no clear difference was found at the RNA level between adults with hypolactasia and adults with persistent high lactase activity, a result that also indicates a posttranscriptional control of lactase expression.
- Published
- 1989
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.