ABSTRACT
Information on infection with hepatitis C virus (HCV) in South America is scarce. The seroprevalences of antibodies to HCV among urban, rural and Amerindian populations from Venezuela, and the genotypes of the HCV isolates recovered, were therefore determined. A total of 2592 sera were tested with an immuno-assay which was developed in-house and based on synthetic peptides. Each reactive sample was then re-tested, using other enzyme immuno-assays and a reverse-transcription, nested PCR, and any sample confirmed positive (in any test) was considered HCV-positive. Genotypes were determined by analysis of RFLP. Overall, 39 (1.5%) of the samples were found HCV positive. The results of the immuno-assays indicated that the seroprevalence of HCV markers among the Amerindians investigated (23/1082, or 2.1%) was significantly higher than that among the other subjects (16/1510, or 1.1%; P = 0.02). No such difference was observed in the numbers of subjects confirmed positive by PCR, however (6/1082 v. 10/1510), and some of the anti-HCV reactivity observed among Amerindians may have been the result of cross-reactivity with parasitic infections. The relative low prevalence of active HCV infection (16/2582, or 0.6%) and the HCV genotypes observed (mainly genotype 1) are in agreement with the results of previous studies indicating that HCV is not autochthonous to South America. However, it is clear that the virus may now be found even in isolated Amerindian populations. The in-house, synthetic-peptide-based immuno-assay seems to be a valuable tool for epidemiological studies.
Subject(s)
Hepatitis C, Chronic/epidemiology , Mass Screening/methods , Reagent Kits, Diagnostic , Adolescent , Adult , Female , Genotype , Hepacivirus/genetics , Hepacivirus/isolation & purification , Hepatitis C, Chronic/immunology , Humans , Immunoenzyme Techniques , Male , Middle Aged , Polymorphism, Restriction Fragment Length , Pregnancy , Prevalence , Reverse Transcriptase Polymerase Chain Reaction , Rural Health/statistics & numerical data , Sensitivity and Specificity , Seroepidemiologic Studies , Urban Health/statistics & numerical data , Venezuela/epidemiologyABSTRACT
We report on a newborn boy with pronounced hypotonia, cryptorchidism, minor facial anomalies, congenital heart defect, neurologic anomaly, deafness, renal anomaly, and bifid uvula. The patient has a de novo proximal interstitial deletion of chromosome 15 reaching to band q14, larger than that usually seen in Prader-Willi and Angelman syndromes.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 15/ultrastructure , Prader-Willi Syndrome/genetics , Chromosome Banding , Humans , Infant, Newborn , Male , PhenotypeABSTRACT
A liveborn female with a 69,XXX karyotype and clinical features of triploidy syndrome is reported. Main phenotypical features are: intrauterine growth retardation, hypotonicity, micrognathism, low-set ears, ocular anomalies, syndactyly and atrophy of the cerebral cortex and corpus callosum. Study of chromosomal heteromorphisms revealed that triploidy might have arisen through fertilization of a diploid ovum by a haploid sperm (diginy).
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations/genetics , Polyploidy , Brain/abnormalities , Chromosome Disorders , Female , Fertilization , Fetal Growth Retardation/genetics , Humans , Hydrocephalus/genetics , Infant, Newborn , PhenotypeABSTRACT
The authors describe a new case of full trisomy 22 in a malformed newborn female, who died shortly after birth. Pathologic findings include cardiac, vascular, renal, gastrointestinal, genital and cerebral malformations. The study of C-heteromorphisms shows a paternal origin of the aneuploidy (non-disjunction at meiosis II).
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations/genetics , Chromosomes, Human, Pair 22 , Trisomy , Brain/abnormalities , Chromosome Disorders , Female , Fetal Growth Retardation/genetics , Humans , Infant, Newborn , Phenotype , Viscera/abnormalitiesABSTRACT
A newborn male patient with a partial trisomy 13q22----qter, derived from a maternal translocation (13;15)(q22;p11) is reported. This non-frequent chromosomal anomaly leads to a characteristic phenotype easily recognizable from other craniosynostosis syndromes, in which the cranial malformation is often associated with auricular and limb defects. This phenotype includes: cranial malformation, characteristic facies, mental and developmental retardation, urologic and genital anomalies, polydactily, abnormal muscular tonicity and convulsive status. Our patient, a "pure" partial trisomy, without other associated chromosomal anomaly, is compared with the published cases.
Subject(s)
Chromosomes, Human, Pair 13 , Ear, External/abnormalities , Facial Bones/abnormalities , Intellectual Disability/genetics , Trisomy , Humans , Infant, Newborn , Karyotyping , Male , Phenotype , SyndromeABSTRACT
Pig heart aconitase has been immobilized on Enzacryl AA solid support and its kinetic behaviours were studied by using a stirred bath reactor with continuous recycling. In this reactor, the best flow rate has been determined to eliminate diffusional problems. Kinetics constants, thermic stability and pH variations have been compared between the soluble and immobilized aconitase for determination of enzyme-Enzacryl AA effectivity. Stability of the soluble and immobilized aconitase was also studied after repeated use and long-time storage. While the soluble form loses its activity after 24 hr storage, the immobilized form preserves its full activity after repeated usage and long-lasting storage. Finally, an easily measurable parameter has been found to quantitate citrate. The maximum increase of absorbance, is proportional to citrate concentration in a range between 0.2 and 3.2 mM. In conclusion, these results show that the immobilized aconitase system can be used for the determination of citrate with reproductility and great sensitivity. In addition to the simplicity of the assay, great economy in enzyme consumption has been demonstrated, in contrast to the traditional methods of quantitative citrate analysis.
