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PubMed1987

Induction of prophage lambda by chlorinated pesticides.

Chlorinated organics represent an important class of environmental carcinogens. However, only a small percentage of the carcinogens of this chemical class are genotoxic in prokaryotic bioassays such as the Salmonella assay. In an effort to identify a short-term assay sensitive to chlorinated carcinogens, we have tested a group of chlorinated pesticides, most of which are carcinogenic in rodents, in a prophage-induction assay developed by Rossman et al. (1984). The Microscreen phage-induction assay is a rapid, inexpensive, miniaturized system that uses the induction of prophage lambda in Escherichia coli as an indicator of genetic damage. It has been used successfully to screen complex environmental samples for genotoxicants and has detected carcinogenic metals that are refractory in the Salmonella assay. The pesticides tested were malathion, monuron, p,p'-DDT, mirex, lindane, nitrofen, chlordane, toxaphene, captan, and dichlorvos. All but the first 4 induced prophage. The remaining pesticides were ranked as follows according to induction potency in the presence of S9: captan greater than dichlorvos greater than toxaphene greater than lindane greater than nitrofen greater than chlordane. Rankings were similar in the absence of S9. Of these 6 pesticides, only nitrofen required S9 to induce prophage. Comparisons with mutagenesis data in Salmonella indicated that the Microscreen assay detected as genotoxic each of the pesticides that were mutagenic in Salmonella; moreover, it detected 2 additional carcinogens (chlordane and lindane) that were not mutagenic in the Salmonella assay. The possible use of the Microscreen phage-induction assay to detect chlorinated organics is discussed.

Animals↗
PubMed2001

[Epidemic outbreak of tuberculosis].

OBJECTIVE: To describe how collaboration between epidemiological surveillance and primary and specialist health care centres enabled rapid intervention during an outbreak of tuberculosis in a nursery school. MATERIAL AND METHODS: A child minder was diagnosed with tuberculosis. The persons exposed were identified. These were four child minders and 58 children under 4 years of age. The respective primary care pediatricians carried out a tuberculin test in all of the children. Children with a positive tuberculin test underwent radiological and microbiological study to rule out the disease. The adults underwent the same procedure. RESULTS: Detection among the children was rapid; 32.8 % were infected and six showed alterations in thoracic x-rays and were considered to be ill. In three children Mycobacterium tuberculosis was isolated and was genetically similar to the index case. Primary chemoprophylaxis was carried out in all children with a negative tuberculin test; secondary chemoprophylaxis was administered to infected children and specific treatment to the ill. In all children, evolution was satisfactory. CONCLUSIONS: Periodic surveillance for tuberculosis should be carried out among adults working with children. Genetic study of the strains isolated facilitates epidemiological analysis of these microepidemics.

Adult↗
PubMed2005

Genetic regulation of IgE responses: Achilles and the tortoise.

In the last few decades, basic biology and immunology have thrived, largely thanks to the use of model organisms that allow exploration of complex functions in ideal experimental conditions and genetically defined backgrounds. IgE regulation studies are no exception to this rule. The current challenge is to anchor what we are learning in test tubes and animals to mechanisms of disease in patients with allergy. With information about the human genome rapidly piling up, and strong associations between single nucleotide polymorphisms and disease phenotypes reported more and more often, it is becoming clear that such anchoring cannot occur without a robust integration between the biology of model systems and the biology of natural genetic variants. Here we will argue that an essential component of this integration is the functional analysis of the mechanisms through which natural variation affects pathways relevant to the pathogenesis of IgE-dependent inflammation.

Animals↗
PubMed2005

Determining genetic stabilities of chimeric dengue vaccine candidates based on dengue 2 PDK-53 virus by sequencing and quantitative TaqMAMA.

The genetic stabilities of the three attenuation loci of the candidate dengue 2 (D2) PDK-53 vaccine virus were evaluated for the PDK-53 virus and PDK-53-vectored chimeric D2/1, D2/3, and D2/4 viruses following 10 sequential passages in Vero cells. Sequencing revealed that the dominant NS1-53-Asp and the NS3-250-Val attenuation loci were extremely stable, whereas reversion occurred at the 5'NCR-57-U locus in 10 of the 18 viral lineages tested. A more sensitive and quantitative assay, the TaqMan mismatch amplification mutation assay (TaqMAMA), was employed to more finely discriminate the level of reversion at the 5'NCR-57 locus. This rapid genetic assay permitted detection of 80% in the viral population. Chimeric viruses based on the PDK-53-V (all three mutations present) genetic background were more stable than those developed in the PDK-53-E (5'NCR and NS1 mutations present) background. The TaqMAMA can be applied in quality control analyses to ensure that attenuated vaccine seeds contain undetectable or minimal levels of reversion at a given attenuation locus.

Animals↗
PubMed2006

An illustrative case of Muir-Torre syndrome: contribution of immunohistochemical analysis in identifying indicator sebaceous lesions.

BACKGROUND: Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by the association of at least 1 cutaneous sebaceous tumor and 1 internal malignancy, often arising in the gastrointestinal tract. It is secondary to germline mutations in DNA mismatch repair genes, mainly MLH-1 and MSH-2. OBSERVATIONS: We report the case of a 54-year-old man with a 2-year history of skin-colored papules clinically reminiscent of large sebaceous hyperplasias on the nose and back, but histologically diagnosed as sebaceous adenomas and epitheliomas. His family history was positive for colon cancer in the mother and 2 brothers. A colonoscopy done during the hospitalization revealed 2 sessile polyps in the left colon, both showing a low-grade dysplasia on the biopsy specimen. Immunohistochemical staining performed on the cutaneous and colic biopsy specimens revealed a lack of expression of MSH-2 and MSH-6. Genetic testing revealed microsatellite instability in the colon and cutaneous tumors. CONCLUSION: The immunohistochemical testing for MSH-2, MSH-6, and MLH-1 is useful for rapid identification of an underlying mismatch repair defect and early diagnosis of MTS.

Adenocarcinoma, Sebaceous↗
PubMed1999

Guidelines for buccal smear collection in breast-fed infants.

Buccal smear analysis is a noninvasive, fast, and relatively inexpensive diagnostic method. It is used commonly where rapid gender identification is necessary or, more recently, for detection of aneusomy, microdeletion syndromes, and a variety of polymerase chain reaction-based molecular genetic tests. Previously we have shown that maternal cells can contaminate buccal smears taken from breast-fed infants, resulting in difficulty with test interpretation. The aim of this study was to determine optimal timing and technique for buccal smear collection in breast-fed infants in order to avoid diagnostic errors. We analyzed prospectively 50 breast-fed male infants for presence of cells with XX signal pattern from buccal mucosa scrapings at different times after breast feeding. The efficiency of mucosal cleaning on elimination of maternal cells was evaluated by comparing the proportion of XX cells before and after wiping of buccal mucosa with a cotton swab. Maternal cells were present in 23 of 48 (47.9%) samples collected within 5 min of feeding. The proportion of XX signal pattern was significantly (P = 0.001) reduced in samples collected at 30 min (8/48, P = 0.001) and > or =60 min (2/29, P = 0.0002) after feeding. Mucosal cleaning prior to smear collection significantly decreased the number of XX positive samples from 23 of 48 to 10 of 48 (P = 0.002). Buccal smears should not be obtained in nursing neonates until at least 60 min after breast feeding. In addition, prior to sample collection, buccal mucosa should be cleaned thoroughly with a cotton swab applicator. The same guidelines are applicable to older nursing infants.

Breast Feeding↗
PubMed1999

Recent progress in understanding the genetic susceptibility to osteoporosis.

Family and twin studies have established a genetic contribution to the etiology of osteoporosis. The genes and allelic variants conferring osteoporotic risk are largely undefined, but the number of candidates has increased steadily in recent years (Table I). Osteoporosis is a complex disease, and allelic variation in many other candidate-genes including those that encode growth factors, cytokines, calciotropic hormones, and bone matrix proteins are likely to also play a role and warrant systematic investigation. Most family and association studies to date have focused on the genetic contributions to bone density, a major determinant of bone strength and fracture risk. Bone density is not the only determinant of skeletal fragility, however, and genetic influences on fracture risk are independent of bone density [Cummings et al., 1995]. The microarchitectural properties and overall size and geometry of bone also influence skeletal strength [Bouxsein et al., 1996], and the genetic influences on these phenotypes should be investigated more rigorously. Even fewer studies have assessed the association between candidate-gene variation and the risk of fracture, the most important clinical outcome of osteoporosis. Large-scale molecular epidemiologic studies will be increasingly necessary in the future to quantify the relative, absolute and attributable risks of fracture associated with specific genetic variants. Osteoporosis is a complex, multifactorial disease, and most candidate-gene association studies have had limited statistical power to assess gene-gene and gene-environment interaction. Although gender plays an important role in the development of osteoporosis, genetic studies have almost exclusively focused on women, and have not tested whether gender modifies the association between genetic variation and osteoporotic risk. Therefore, future genetic studies will need to recruit larger samples of individuals including men. Rapid additional progress in our understanding of the molecular basis of osteoporosis can be expected in the near future as ongoing genome-wide linkage [Spotila et al., 1996] and candidate-gene association analyses are completed. Linkage analyses in families at high-risk for rare metabolic bone diseases should also yield important clues to the pathogenesis of osteoporosis. Recent examples are the mapping of loci for both high [Johnson et al., 1997] and low [Gong et al., 1996] bone mass to chromosome 11q and osteopetrosis to chromosome 1p [Van Hul et al., 1997]. Similar ongoing studies in baboons [Rogers and Hixson, 1997] and mice [Beamer et al., 1997] may reveal additional loci whose human homologs contribute to osteoporotic risk. The improved understanding of osteoporosis that will emerge from these genetic studies should lead to better diagnosis of this disease and new treatment and prevention strategies.

Animals↗
PubMed2005

Molecular diagnosis of inheritable neuromuscular disorders. Part I: Genetic determinants of inherited disease and their laboratory detection.

Understanding of the genetic basis of inheritable neuromuscular disorders has grown rapidly over the last decade, resulting in improved classification and understanding of their pathogenesis. A consequence of these advances has been the development of genetic tests of blood specimens for the diagnosis of many of these diseases. For many patients, these blood tests have eliminated the need for other more invasive diagnostic tests such as muscle or nerve biopsy, and for some patients, reduced exposure to immunosuppressive medication and its complications. The first part of this review focuses on the nature of genetic disorders, the laboratory methods used in the performance of genetic tests, and general practical aspects of their use and interpretation. The second part discusses the applicability of these tests to the range of neuromuscular disorders.

Humans↗
PubMed1998

The commercialization of human genetics: profits and problems.

Private-sector funding is becoming increasingly important to genetic scientists and clinicians, and the number of academic-industry collaborations is growing rapidly. Furthermore, genetics has become an important tool for the healthcare industry, as the genomes of humans and other organisms are mined for new diagnostic tests and drug leads. Potentially, this is a win-win situation: academic research gets a funding boost; industry benefits from academic research; and humankind benefits from the products of these liaisons. But these benefits do not come without cost. This article explores these costs and examines whether the commercialization of academic research is compromising academic freedom, progress in clinical research, and our attitudes to normal good health.

Attitude to Health↗
PubMed1998

Future trends in diagnosis using laboratory-on-a-chip technologies.

There has been an enormous growth in the development of biotechnological applications, where advances in the techniques of microelectronic fabrication and the technologies of miniaturization and integration in semiconductor industries are being applied to the production of Laboratory-on-a-Chip devices. The aim of this development is to create devices that will perform the same processes that are currently carried out in the laboratory in reduced timescales, at a lower cost, requiring less reagents, and with a greater resolution of detection and specificity. The expectations of this Laboratory-on-a-Chip revolution is that this technology will facilitate rapid advances in gene discovery, genetic mapping and gene expression with broader applications ranging from infectious diseases and cancer diagnostics to food quality and environmental testing. A review of the current state of development in this field reveals the scale of the ongoing revolution and serves to highlight the advances that can be perceived in the development of Laboratory-on-a-Chip technologies. Since miniaturization can be applied to such a wide range of laboratory processes, some of the sub-units that can be used as building blocks in these devices are described, with a brief description of some of the fabrication processes that can be used to create them.

Animals↗
PubMed2005

The wide spectrum of spinocerebellar ataxias (SCAs).

Spinocerebellar ataxias (SCAs) are a clinically heterogeneous group of disorders. Current molecular classification corresponds to the order of gene description (SCA1-SCA 25). The prevalence of SCAs is estimated to be 1-4/100,000. Patients exhibit usually a slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and/or ataxic gait. They can present also with pigmentary retinopathy, extrapyramidal movement disorders (parkinsonism, dyskinesias, dystonia, chorea), pyramidal signs, cortical symptoms (seizures, cognitive impairment/behavioral symptoms), peripheral neuropathy. SCAs are also genetically heterogeneous and the clinical diagnosis of subtypes of SCAs is complicated by the salient overlap of the phenotypes between genetic subtypes. The following clinical features have some specific values for predicting a gene defect: slowing of saccades in SCA2, ophthalmoplegia in SCA1, SCA2 and SCA3, pigmentary retinopathy in SCA7, spasticity in SCA3, dyskinesias associated with a mutation in the fibroblast growth factor 14 (FGF 14) gene, cognitive impairment/behavioral symptoms in SCA17 and DRPLA, seizures in SCA10, SCA17 and DRPLA, peripheral neuropathy in SCA1, SCA2, SCA3, SCA4, SCA8, SCA18 and SCA25. Neurophysiological findings are compatible with a dying-back axonopathy and/or a neuronopathy. Three patterns of atrophy can be identified on brain MRI: a pure cerebellar atrophy, a pattern of olivopontocerebellar atrophy, and a pattern of global brain atrophy. A remarkable observation is the presence of dentate nuclei calcifications in SCA20, resulting in a low signal on brain MRI sequences. Several identified mutations correspond to expansions of repeated trinucleotides (CAG repeats in SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 and DRPLA, CTG repeats in SCA8). A pentanucleotide repeat expansion (ATTCT) is associated with SCA10. Missense mutations have also been found recently. Anticipation is a main feature of SCAs, due to instability of expanded alleles. Anticipation may be particularly prominent in SCA7. It is estimated that extensive genetic testing leads to the identification of the causative gene in about 60-75 % of cases. Our knowledge of the molecular mechanisms of SCAs is rapidly growing, and the development of relevant animal models of SCAs is bringing hope for effective therapies in human.

Age of Onset↗
PubMed1996

A rapid and effective procedure for screening protease mutants.

We describe a simple and effective procedure to screen for active proteases among a large number of mutants. First, the mutants are genetically tested by the protease activity produced in the periplasm of transformed bacteria which supplies the cells with a nitrogen source by hydrolyzing a protein applied to plates. Then a less sensitive activity staining and an X-ray film digestion assay are used to verify and estimate the activity of the mutants that proved to be positive in the first step. Depending essentially on the level of periplasmic protease activity, the method can detect both the activity and the stability of the expressed enzymes. We calibrated the method with transformants that produce wild-type trypsin, chymotrypsin and trypsin mutants of known activity. Using this method we found two active revertants of the inactive Asn102 trypsin mutant, by screening approximately 4.4 x 10(4) random mutants that were generated by the polymerase chain reaction on a cDNA fragment. This procedure should be useful in searching for proteases of novel specificity and/or reaction chemistry engineered by random mutagenesis, and also for in vitro evolution studies.

Amino Acid Sequence↗
PubMed1988

Fluorescent monoclonal antibody compared with carbohydrate utilization for rapid identification of Neisseria gonorrhoeae.

A commercially available fluorescein-conjugated monoclonal antibody (MAb) (Syva Co., Palo Alto, Calif.; Genetic Systems, Seattle, Wash.) against Neisseria gonorrhoeae was compared with a standard cystine Trypticase agar (CTA) sugar utilization method and with three rapid carbohydrate utilization tests, including the Minitek (BBL Microbiology Systems, Cockeysville, Md.), Neisseria-Stat (Richardson Scientific, Dallas, Tex.), and Neisseria-Kwik (Micro-Biologics, St. Cloud, Minn.) systems for the identification of Neisseria species. The MAb correctly identified all 86 clinical isolates of N. gonorrhoeae. Of these 86 isolates, 28 were found later (48 h after the initial inoculation) to be contaminated with non-Neisseria bacteria. In the other four test systems studied, the identification rates for pure and contaminated N. gonorrhoeae cultures were, respectively, as follows: CTA sugars, 88 and 32%; Minitek, 67 and 50%; Neisseria-Stat, 97 and 96%; and Neisseria-Kwik, 80 and 74%. The MAb did not identify any of the 50 nongonoccocal Neisseria isolates tested. The most expensive test system was the MAb, followed by the Neisseria-Kwik, Minitek, Neisseria-Stat, and CTA sugars systems. The MAb appears to be a rapid and accurate method to identify in vitro isolates of N. gonorrhoeae.

Antibodies, Monoclonal↗
PubMed1996

Rapid detection of point mutations of the Neisseria gonorrhoeae gyrA gene associated with decreased susceptibilities to quinolones.

Mutations in the gyrA gene resulting in amino acid changes at Ser-91 and Asp-95 are significantly associated with decreased susceptibilities to quinolones in Neisseria gonorrhoeae. To detect these mutations, we developed a rapid and simple assay based on amplification of the region of the gyrA gene containing the mutation sites by PCR and digestion of the PCR product with a restriction enzyme. A naturally occurring HinfI restriction site was present in the region containing the Ser-91 codon, and an artificial HinfI restriction site was created in the region containing the Asp-95 codon by the method of primer-specified restriction site modification. The mutations generating alterations at Ser-91 and Asp-95 were detected as restriction fragment length polymorphisms of the PCR products digested with HinfI. Fifty-five clinical strains of N. gonorrhoeae were examined for mutations in the gyrA gene by this method. Mutations at Ser-91 and/or Asp-95 were detected in all the 31 strains in which the mutations had been confirmed by DNA sequencing. Our method allows simultaneous testing of a large number of strains and provides results within 8 h. This rapid and simple assay could be a useful screening device for genetic alterations associated with decreased susceptibilities to quinolones in N. gonorrhoeae and could facilitate epidemiological studies on clinical isolates of N. gonorrhoeae with decreased susceptibilities to quinolones.

Base Sequence↗
PubMed1999

Toxicity of middle distillates from dermal exposure.

This report focuses on recent studies that investigated the effects of kerosine dermal exposure on neurotoxicity and reproductive/developmental toxicity. Background toxicity information will also be reviewed for kerosine range mid distillates. The kerosine range mid distillates have a carbon range of C9-C16 and have a boiling range of 302-554 degrees F (150-290 degrees C). This category includes kerosine, aviation fuels (e.g., Jet A, JP-5 and JP-8), no. 1 fuel oil and diesel fuel oil. In general, the kerosine range mid distillates demonstrate relatively low acute toxicity by any route of exposure. High inhalation exposures can induce central nervous system depression characterized by ataxia, hypoactivity and prostration. Kerosines are known to cause skin irritation and inflammation under conditions of acute and repeated exposure in animals and humans, but are only slightly irritating to the eye and are not skin sensitizers. In addition, the absorption of kerosine range mid distillates through the skin has been demonstrated to be fairly rapid, but limited to approximately 10-15% of the applied dose after 24 hours. The kerosine range mid distillates are generally inactive in genetic toxicity tests although positive studies have been reported. Positive results, while at times equivocal, have been reported for straight run kerosine and jet fuel A in the mouse lymphoma assay with metabolic activation, and hydrodesulfurized kerosine (mouse) and jet fuel A (rat) in the bone marrow cytogenetic assay. Effects on the nervous and reproductive systems have been reported in humans and experimental animals under conditions where inhalation and dermal exposure to specific kerosine type fuels are sometimes difficult to separate. Recent laboratory studies have addressed this point and examined the effects of dermal exposure. In these studies, rats were exposed to hydrodesulfurized kerosine by skin application to determine the potential of dermal contact to cause reproductive/developmental toxicity (OECD Guideline 421) or neurotoxicity (TSCA Guidelines on subchronic inhalation and neurotoxicity studies). These studies demonstrated that the highest dose level of kerosine does not induce reproductive/developmental or neurotoxicity effects by skin exposure in rodent studies. The dermal NOEL for HDS kerosine in rats was > or = 494 mg/kg for both neurotoxicity, and reproductive/developmental toxicity.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

Efficacy of a triple therapy with rabeprazole, amoxicillin, and faropenem as second-line treatment after failure of initial Helicobacter pylori eradication therapy.

BACKGROUND/AIMS: Triple therapy consisting of lansoprazole, amoxicillin, and clarithromycin (LAC regimen) is widely used to eradicate Helicobacter pylori in Japan. However, the need for appropriate treatment after failure of initial therapy to eradicate H. pylori has been increasing. We therefore assessed the efficacy of a combination of rabeprazole, amoxicillin, and faropenem for second-line eradication therapy. METHODOLOGY: The subjects were 116 patients positive for H. pylori infection. Patients initially received lansoprazole 60 mg/day, amoxicillin 1500 mg/day and clarithromycin 400 mg/day in two divided doses for 7 days. Patients in whom eradication treatment failed were given rabeprazole 20 mg/day and amoxicillin 1500 mg/day in two divided doses, and faropenem 600 mg/day in three divided doses (RAF regimen) for 7 consecutive days. H. pylori status was assessed by the 13C-urea breath test combined with rapid urease test or H. pylori culture method 8 weeks after completion of therapy. Susceptibility to clarithromycin was determined by the agar dilution method, and genetic polymorphism of CYP2C19 was analyzed by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: The initial H. pylori eradication rate with the LAC regimen was 76.4% (84/110). Assessment of the CYP2C19 genotypes of the patients in whom eradication therapy failed revealed that homozygous extensive metabolizers accounted for 70.0% (16/23) and heterozygous extensive metabolizers for 30.0% (7/23), with no poor metabolizers. The acquired resistance rate for clarithromycin was 52.0% (12/23). The success rate of re-eradication with the RAF regimen was 91.3% (21/23) with no serious adverse effects. CONCLUSIONS: Triple therapy comprising rabeprazole, amoxicillin, and faropenem is effective for second-line eradication treatment of H. pylori infection, regardless of the genetic polymorphism of CYP2C19 or the presence of resistance to clarithromycin.

2-Pyridinylmethylsulfinylbenzimidazoles↗
PubMed1983

Retinitis pigmentosa--an overview.

Retinitis pigmentosa is a retinal pigment dystrophy of multiple genetic inheritance patterns affecting approximately .5% of the world population. It may be recognized clinically by observing specific ophthalmoscopic changes, as well as through psychophysical and electrodiagnostic testing. It may also be associated with several other genetic conditions. Basic research indicates that while there is no specific cure, certain precautions may prevent rapid acceleration of the disease process. This article presents an overview of retinitis pigmentosa, including its diagnosis and genetic patterns, and discusses various auxiliary aids and filters that may be helpful in protecting and increasing visual function in R.P. patients.

Child↗
PubMed2006

[The development of rapid screening of colorectal cancer by mutation detection in fecal DNA].

Colorectal cancer is one of the leading causes of death in the world. Screening high-risk populations for colorectal cancer can lower both the incidence of and deaths from the disease. Mutation detection in fecal DNA is a new approach of screening patients for colorectal cancer. Compared with colonoscopy and fecal occult-blood test, this approach has the advantages of high specificity, high sensitivity and general acceptability. This paper systematically reviewed genes associated with fecal DNA testing, methods for extracting tumor-specific DNA, and methods for detecting gene mutations. Moreover, the application of mutation detection using fecal DNA for rapid screening of colorectal cancer was briefly discussed.

Colorectal Neoplasms↗