PROP1 gene mutations in a 36-year-old female presenting with psychosis

Science.gov (United States)

Rijal, Tshristi; Jha, Kunal Kishor; Saluja, Harpreet

2017-01-01

Summary Combined pituitary hormonal deficiency (CPHD) is a rare disease that results from mutations in genes coding for transcription factors that regulate the differentiation of pituitary cells. PROP1 gene mutations are one of the etiological diagnoses of congenital panhypopituitarism, however symptoms vary depending on phenotypic expression. We present a case of psychosis in a 36-year-old female with congenital panhypopituitarism who presented with paranoia, flat affect and ideas of reference without a delirious mental state, which resolved with hormone replacement and antipsychotics. Further evaluation revealed that she had a homozygous mutation of PROP1 gene. In summary, compliance with hormonal therapy for patients with hypopituitarism appears to be effective for the prevention and treatment of acute psychosis symptoms. Learning points: Patients with PROP1 gene mutation may present with psychosis with no impairment in orientation and memory. There is currently inadequate literature on this topic, and further study on the possible mechanisms of psychosis as a result of endocrine disturbance is required. Compliance with hormonal therapy for patients with hypopituitarism appears to be effective for prevention and treatment of acute psychosis symptoms. PMID:28458894

PROP1 gene mutations in a 36-year-old female presenting with psychosis

Directory of Open Access Journals (Sweden)

Durgesh Prasad Chaudhary

2017-03-01

Full Text Available Combined pituitary hormonal deficiency (CPHD is a rare disease that results from mutations in genes coding for transcription factors that regulate the differentiation of pituitary cells. PROP1 gene mutations are one of the etiological diagnoses of congenital panhypopituitarism, however symptoms vary depending on phenotypic expression. We present a case of psychosis in a 36-year-old female with congenital panhypopituitarism who presented with paranoia, flat affect and ideas of reference without a delirious mental state, which resolved with hormone replacement and antipsychotics. Further evaluation revealed that she had a homozygous mutation of PROP1 gene. In summary, compliance with hormonal therapy for patients with hypopituitarism appears to be effective for the prevention and treatment of acute psychosis symptoms.

New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.

NARCIS (Netherlands)

Rawal, N.; Periquet, M.; Lohmann, E.; Lucking, C.B.; Teive, H.; Ambrosio, G.; Raskin, S.; Lincoln, S.; Hattori, N.; Guimaraes, J.; Horstink, M.W.I.M.; Santos Bele, W. Dos; Brousolle, E.; Destee, A.; Mizuno, Y.; Farrer, M.; Deleuze, J.F.; Michele, G. de; Agid, Y.; Durr, A.; Brice, A.

2003-01-01

The frequency of parkin mutations was evaluated in 30 families of highly diverse geographic origin with early-onset autosomal recessive parkinsonism. Twelve different mutations, six of which were new, were found in 10 families from Europe and Brazil. Patients with parkin mutations had significantly

Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity

Energy Technology Data Exchange (ETDEWEB)

Desviat, L.R.; Perez, B.; De Lucca, M. [Universidad Autonoma de Madrid, (Spain)] [and others

1995-08-01

Phenylketonuria mutation V388M is frequent in the Iberian Peninsula. In vitro, the V388M mutant enzyme has similar immunoreactive protein and phenylalanine hydroxylase mRNA and had 43% residual activity, which correlates well with the mild phenotype exhibited by the homozygous patients. In Spain it has been detected in 5.7% of the mutant alleles and is always associated with haplotype 1.7. This mutation is also present in high frequency in some Latin American countries (Brazil, 9% Chile, 13%). It is interesting that in Chile most of the alleles bearing this mutation carry haplotype 4.3, although in Brazil it is found only on the background of haplotype 1.7. The origin of V388M in Spain on haplotype 1.7 and in Chile on haplotype 4.3 is clearly different. Recurrence is the most plausible explanation, because the mutation involves a CpG dinucleotide, and a recombination event transferring the mutation from haplotype 1 to 4 is unlikely. 29 refs., 2 figs., 3 tabs.

Present state and problems of mutation breeding

Energy Technology Data Exchange (ETDEWEB)

Balint, A. (Agrartudomanyi Egyetem, Goedoelloe (Hungary))

1983-09-01

The major achievements and problems of mutation breeding are discussed according to recent international references. Examples for the production of microorganism resistant tobacco, maize, cabbage, disease resistant sugar cane and some freeze resistant plants are listed. Special opportunities offered by mutation to increase photosynthesis and to improve yields are discussed. The significance of the new techniques to produce induced mutants by means of tissue cultures, to fix N/sub 2/ for leguminosae and to affect the activities of N/sub 2/ fixing microorganisms is emphasized.

Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.

Science.gov (United States)

Uusimaa, Johanna; Gowda, Vasantha; McShane, Anthony; Smith, Conrad; Evans, Julie; Shrier, Annie; Narasimhan, Manisha; O'Rourke, Anthony; Rajabally, Yusuf; Hedderly, Tammy; Cowan, Frances; Fratter, Carl; Poulton, Joanna

2013-06-01

To assess the frequency and clinical features of childhood-onset intractable epilepsy caused by the most common mutations in the POLG gene, which encodes the catalytic subunit of mitochondrial DNA polymerase gamma. Children presenting with nonsyndromic intractable epilepsy of unknown etiology but without documented liver dysfunction at presentation were eligible for this prospective, population-based study. Blood samples were analyzed for the three most common POLG mutations. If any of the three tested mutations were found, all the exons and the exon-intron boundaries of the POLG gene were sequenced. In addition, we retrospectively reviewed the notes of patients presenting with intractable epilepsy in which we had found POLG mutations. All available clinical data were collected by questionnaire and by reviewing the medical records. We analyzed 213 blood DNA samples from patients fulfilling the inclusion criteria of the prospective study. Among these, five patients (2.3%) were found with one of the three common POLG mutations as homozygous or compound heterozygous states. In addition, three patients were retrospectively identified. Seven of the eight patients had either raised cerebrospinal fluid (CSF) lactate (n = 3) or brain magnetic resonance imaging (MRI) changes (n = 4) at presentation with intractable epilepsy. Three patients later developed liver dysfunction, progressing to fatal liver failure in two without previous treatment with sodium valproate (VPA). Furthermore, it is worth mentioning that one patient presented first with an autism spectrum disorder before seizures emerged. Mutations in POLG are an important cause of early and juvenile onset nonsyndromic intractable epilepsy with highly variable associated manifestations including autistic features. This study emphasizes that genetic testing for POLG mutations in patients with nonsyndromic intractable epilepsies is very important for clinical diagnostics, genetic counseling, and treatment decisions

The Effect of Reproductive Factors on Breast Cancer Presentation in Women Who Are BRCA Mutation Carrier.

Science.gov (United States)

Kim, Ju-Yeon; Moon, Hyeong-Gon; Kang, Young-Joon; Han, Wonshik; Noh, Woo-Chul; Jung, Yongsik; Moon, Byung-In; Kang, Eunyoung; Park, Sung-Shin; Lee, Min Hyuk; Park, Bo Young; Lee, Jong Won; Noh, Dong-Young

2017-09-01

Germline mutations in the BRCA1 and BRCA2 genes confer increased risks for breast cancers. However, the clinical presentation of breast cancer among women who are carriers of the BRCA1 or BRCA2 ( BRCA1/2 carriers) mutations is heterogenous. We aimed to identify the effects of the reproductive histories of women with the BRCA1/2 mutations on the clinical presentation of breast cancer. We retrospectively analyzed clinical data on women with proven BRCA1 and BRCA2 mutations who were recruited to the Korean Hereditary Breast Cancer study, from 2007 to 2014. Among the 736 women who were BRCA1/2 mutation carriers, a total of 483 women had breast cancers. Breast cancer diagnosis occurred at significantly younger ages in women who experienced menarche at ≤14 years of age, compared to those who experienced menarche at >14 years of age (37.38±7.60 and 43.30±10.11, respectively, p women with the BRCA2 mutation. The prevalence of advanced stages (stage II or III vs. stage I) of disease in parous women was higher than in nulliparous women (68.5% vs. 55.2%, p =0.043). This association was more pronounced in women with the BRCA2 mutation (hazard ratio, 2.67; p =0.014). Our results suggest that reproductive factors, such as the age of onset of menarche and the presence of parity, are associated with the clinical presentation patterns of breast cancer in BRCA1/2 mutation carriers.

Photovoltaic Reliability Group activities in USA and Brazil (Presentation Recording)

Science.gov (United States)

Dhere, Neelkanth G.; Cruz, Leila R. O.

2015-09-01

Recently prices of photovoltaic (PV) systems have been reduced considerably and may continue to be reduced making them attractive. If these systems provide electricity over the stipulated warranty period, it would be possible attain socket parity within the next few years. Current photovoltaic module qualifications tests help in minimizing infant mortality but do not guarantee useful lifetime over the warranty period. The PV Module Quality Assurance Task Force (PVQAT) is trying to formulate accelerated tests that will be useful towards achieving the ultimate goal of assuring useful lifetime over the warranty period as well as to assure manufacturing quality. Unfortunately, assuring the manufacturing quality may require 24/7 presence. Alternatively, collecting data on the performance of fielded systems would assist in assuring manufacturing quality. Here PV systems installed by home-owners and small businesses can constitute as an important untapped source of data. The volunteer group, PV - Reliable, Safe and Sustainable Quality! (PVRessQ!) is providing valuable service to small PV system owners. Photovoltaic Reliability Group (PVRG) is initiating activities in USA and Brazil to assist home owners and small businesses in monitoring photovoltaic (PV) module performance and enforcing warranty. It will work in collaboration with small PV system owners, consumer protection agencies. Brazil is endowed with excellent solar irradiance making it attractive for installation of PV systems. Participating owners of small PV systems would instruct inverter manufacturers to copy the daily e-mails to PVRG and as necessary, will authorize the PVRG to carry out review of PV systems. The presentation will consist of overall activities of PVRG in USA and Brazil.

Curriculum Studies in Brazil: Intellectual Histories, Present Circumstances. International and Development Education

Science.gov (United States)

Pinar, William F., Ed.

2011-01-01

This collection, comprised of chapters focused on the intellectual histories and present circumstances of curriculum studies in Brazil, is Pinar's summary of exchanges (occurring over a two-year period) between the authors and members of an International Panel (scholars working in Finland, South Africa, the United States). From these and the…

Decrease in specific micronutrient intake in colorectal cancer patients with tumors presenting Ki-ras mutation

OpenAIRE

JORDI SALAS; NURIA LASO; SERGI MAS; M. JOSE LAFUENTE; XAVIER CASTERAD; MANUEL TRIAS; ANTONIO BALLESTA; RAFAEL MOLINA; CARLOS ASCASO; SHICHUN ZHENG; JOHN K. WIENCKE; AMALIA LAFUENTE

2004-01-01

Decrease in specific micronutrient intake in colorectal cancer patients with tumors presenting Ki-ras mutation BACKGROUND: The diversity of the Mediterranean diet and the heterogeneity of acquired genetic alterations in colorectal cancer (CRC) led us to examine the possible association between dietary factors and mutations, such as Ki-ras mutations, in genes implicated in the pathogenesis of these neoplasms. PATIENTS AND METHODS: The study was based on 246 cases and 296 controls. For th...

Prospective study of POLG mutations presenting in children with intractable epilepsy: Prevalence and clinical features

OpenAIRE

Uusimaa, Johanna; Gowda, Vasantha; McShane, Anthony; Smith, Conrad; Evans, Julie; Shrier, Annie; Narasimhan, Manisha; O'Rourke, Anthony; Rajabally, Yusuf; Hedderly, Tammy; Cowan, Frances; Fratter, Carl; Poulton, Joanna

2013-01-01

Purpose To assess the frequency and clinical features of childhood-onset intractable epilepsy caused by the most common mutations in the POLG gene, which encodes the catalytic subunit of mitochondrial DNA polymerase gamma. Methods Children presenting with nonsyndromic intractable epilepsy of unknown etiology but without documented liver dysfunction at presentation were eligible for this prospective, population-based study. Blood samples were analyzed for the three most common POLG mutations. ...

In vitro mutation induction for resistance to Fusarium wilt in the banana

Energy Technology Data Exchange (ETDEWEB)

Tulmann Neto, A; Mendes, B M.J.; Latado, R [Centro de Energia Nuclear na Agricultura, Piracicaba, SP (Brazil); Cesar Santos, P dos; Boliani, A [Universidade Estadual Paulista, Ilha Solteira, SP (Brazil). Faculdade de Agronomia

1995-11-01

In Brazil, which is one of the world`s principal banana production regions, almost all production is consumed within the country. Consumers show high preference for the cultivar Maca (AAB group). However, it is becoming increasingly difficult to produce bananas of this type because of their high susceptibility to Fusarium wilt, caused by Fusarium oxysporum f. sp. cubense. Sexual breeding, which consists of recombination and selection, is limited in the banana because of polyploidy and sterility. Spontaneous somatic mutations are an important source of new cultirvars, and mutation breeding might be particularly important to generate genetic variation. Because of this, the mutation breeding approach has been used in Brazil. The objective of this research was to induce gamma ray mutations for resistance or to increase the level of tolerance to Fusarium wilt in the banana cultivar Maca on the basis of screening under field conditions. 4 refs.

The present state and problems of mutation breeding

International Nuclear Information System (INIS)

Balint, Andor

1983-01-01

The major achievements and problems of mutation breeding are discussed according to recent international references. Examples for the production of microorganism resistant tobacco, maize, cabbage, disease resistant sugar cane and some freeze resistant plants are listed. Special opportunities offered by mutation to increase photosynthesis and to improve yields are discussed. The significance of the new techniques to produce induced mutants by means of tissue cultures, to fix N 2 for leguminosae and to affect the activities of N 2 fixing microorganisms is emphasized. (V.N.)

Activating thyrotropin receptor mutations are present in nonadenomatous hyperfunctioning nodules of toxic or autonomous multinodular goiter.

Science.gov (United States)

Tonacchera, M; Agretti, P; Chiovato, L; Rosellini, V; Ceccarini, G; Perri, A; Viacava, P; Naccarato, A G; Miccoli, P; Pinchera, A; Vitti, P

2000-06-01

Toxic multinodular goiter, a heterogeneous disease producing hyperthyroidism, is frequently found in iodine-deficient areas. The pathogenesis of this common clinical entity is still unclear. The aim of the present study was to search for activating TSH receptor (TSHr) or Gs alpha mutations in areas of toxic or functionally autonomous multinodular goiters that appeared hyperfunctioning at thyroid scintiscan but did not clearly correspond to definite nodules at physical or ultrasonographic examination. Surgical tissue specimens from nine patients were carefully dissected, matching thyroid scintiscan and thyroid ultrasonography, to isolate hyperfunctioning and nonfunctioning areas even if they did not correspond to well-defined nodules. TSHr and Gs alpha mutations were searched for by direct sequencing after PCR amplification of genomic DNA. Only 2 adenomas were identified at microscopic examination, whereas the remaining 18 hyperfunctioning areas corresponded to hyperplastic nodules containing multiple aggregates of micromacrofollicules not surrounded by a capsule. Activating TSHr mutations were detected in 14 of these 20 hyperfunctioning areas, whereas no mutation was identified in nonfunctioning nodules or areas contained in the same gland. No Gs alpha mutation was found. In conclusion, activating TSHr mutations are present in the majority of nonadenomatous hyperfunctioning nodules scattered throughout the gland in patients with toxic or functionally autonomous multinodular goiter.

Biallelic PMS2 Mutation and Heterozygous DICER1 Mutation Presenting as Constitutional Mismatch Repair Deficiency With Corpus Callosum Agenesis: Case Report and Review of Literature.

Science.gov (United States)

Cheyuo, Cletus; Radwan, Walid; Ahn, Janice; Gyure, Kymberly; Qaiser, Rabia; Tomboc, Patrick

2017-10-01

Constitutional mismatch repair deficiency syndrome is a cancer predisposition syndrome caused by autosomal recessive biallelic (homozygous) germline mutations in the mismatch repair genes (MLH1, MSH2, MSH6, and PMS2). The clinical spectrum includes neoplastic and non-neoplastic manifestations. We present the case of a 7-year-old boy who presented with T-lymphoblastic lymphoma and glioblastoma, together with non-neoplastic manifestations including corpus callosum agenesis, arachnoid cyst, developmental venous anomaly, and hydrocephalus. Gene mutation analysis revealed pathogenic biallelic mutations of PMS2 and heterozygous DICER1 variant predicted to be pathogenic. This report is the first to allude to a possible interaction of the mismatch repair system with DICER1 to cause corpus callosum agenesis.

Juvenile-Onset Diabetes and Congenital Cataract: “Double-Gene” Mutations Mimicking a Syndromic Diabetes Presentation

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Caroline Lenfant

2017-11-01

Full Text Available Monogenic forms of diabetes may account for 1–5% of all cases of diabetes, and may occur in the context of syndromic presentations. We investigated the case of a girl affected by insulin-dependent diabetes, diagnosed at 6 years old, associated with congenital cataract. Her consanguineous parents and her four other siblings did not have diabetes or cataract, suggesting a recessive syndrome. Using whole exome sequencing of the affected proband, we identified a heterozygous p.R825Q ABCC8 mutation, located at the exact same amino-acid position as the p.R825W recurring diabetes mutation, hence likely responsible for the diabetes condition, and a homozygous p.G71S mutation in CRYBB1, a gene known to be responsible for congenital cataract. Both mutations were predicted to be damaging and were absent or extremely rare in public databases. Unexpectedly, we found that the mother was also homozygous for the CRYBB1 mutation, and both the mother and one unaffected sibling were heterozygous for the ABCC8 mutation, suggesting incomplete penetrance of both mutations. Incomplete penetrance of ABCC8 mutations is well documented, but this is the first report of an incomplete penetrance of a CRYBB1 mutation, manifesting between susceptible subjects (unaffected mother vs. affected child and to some extent within the patient herself, who had distinct cataract severities in both eyes. Our finding illustrates the importance of family studies to unmask the role of confounding factors such as double-gene mutations and incomplete penetrance that may mimic monogenic syndromes including in the case of strongly evocative family structure with consanguinity.

Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil

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Victor Kosac

2013-10-01

Full Text Available Familial spinal muscular atrophy (FSMA associated with the vesicle-associated membrane protein-associated protein B (VAPB gene is a rare autosomal dominant disease with late onset and slow progression. We studied 10 of 42 patients from 5 families by taking clinical histories and performing physical exams, electrophysiological studies, and genetic tests. All patients presented late onset disease with slow progression characterized by fasciculations, proximal weakness, amyotrophy, and hypoactive deep tendon reflex, except two who exhibited brisk reflex. Two patients showed tongue fasciculations and respiratory insufficiency. Electrophysiological studies revealed patterns of lower motor neuron disease, and genetic testing identified a P56S mutation of the VAPB gene. Although it is a rare motor neuron disease, FSMA with this mutation might be much more prevalent in Brazil than expected, and many cases may be undiagnosed. Genetic exams should be performed whenever it is suspected in Brazil.

Lack of association of C282Y and H63D mutations in the hemochromatosis (HFE) gene with diabetes mellitus type 2 in a case-control study of women in Brazil.

Science.gov (United States)

Gomes, K B; Carvalho, M G; Coelho, F F; Rodrigues, I F; Soares, A L; Guimarães, D A; Fernandes, A P

2009-10-27

Hereditary hemochromatosis is one of the most common autosomal recessive diseases; it is characterized by excess absorption of iron. Clinically, the major challenge is to diagnose increased iron deposition before irreversible tissue damage has occurred. C282Y and H63D are the main mutations related to hereditary hemochromatosis; these mutations have been reported to be associated with increased risk of developing diabetes mellitus type 2 (DM2). We investigated whether these mutations are associated with increased risk for the development of DM2 in women in Brazil. Seventy-two women with clinical diagnosis of DM2 under treatment with hypoglycemic agents and a control group composed of 72 women with no clinical history of diabetes were studied. The C282Y and H63D mutations were determined by PCR-RFLP. Significant differences were not observed for C282Y and H63D, when we compared diabetic and non-diabetic women. We suggest that mutations C282Y and H63D in the HFE gene are not significant risk factors for the development of DM2 in Brazilian women.

Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.

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Ruben Attali

Full Text Available We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle weakness. Absence of cores was noted in all patients. Genome wide linkage analysis revealed a single locus on chromosome 19q13 with Zmax = 3.86 at θ = 0.0 and homozygosity of the polymorphic markers at this locus in patients. Direct sequencing of the main candidate gene within the candidate region, RYR1, was performed. A novel homozygous A to G nucleotide substitution (p.Y3016C within exon 60 of the RYR1 gene was found in patients. ARMS PCR was used to screen for the mutation in all available family members and in an additional 150 healthy individuals. This procedure confirmed sequence analysis and did not reveal the A to G mutation (p.Y3016C in 300 chromosomes from healthy individuals. Functional analysis on EBV immortalized cell lines showed no effect of the mutation on RyR1 pharmacological activation or the content of intracellular Ca(2+ stores. Western blot analysis demonstrated a significant reduction of the RyR1 protein in the patient's muscle concomitant with a reduction of the DHPRα1.1 protein. This novel mutation resulting in RyR1 protein decrease causes heterogeneous clinical presentation, including slow progression course and absence of centrally localized cores on muscle biopsy. We suggest that RYR1 related myopathy should be considered in a wide variety of clinical and pathological presentation in childhood myopathies.

Present crisis and the future of alcohol programs in Brazil

International Nuclear Information System (INIS)

Rosa, L.P.

1993-01-01

After the oil shortages of the 1970s, an intensive program to enhance the use of alcohol as an automotive fuel substitute was instigated in Brazil. This program was successfully developed during the 1980s decade, to the extent that 90% of the demand for new automobiles has been carried by alcohol cars. Since 1989 the paradox of a current gasoline surplus and alcohol shortage has caused the sales of alcohol cars to plummet. The technical solutions presented by the authors for the alcohol crisis include changing the relative pricing of fuels and vehicles, reaching an equilibrium between fuel demand and production, and obtaining a recovery of alcohol credibility. Together, these factors may help improve sales of the alcohol-fueled car

Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia

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David Enrique Aguilar Rodriguez

2005-01-01

Full Text Available Fanconi anaemia (FA is a recessive autosomal disease determined by mutations in genes of at least eleven complementation groups, with distinct distributions in different populations. As far as we know, there are no reports regarding the molecular characterisation of the disease in unselected FA patients in Brazil. OBECTIVE: This study aimed to investigate the most prevalent mutations of FANCA and FANCC genes in Brazilian patients with FA. METHODS: Genomic DNA obtained from 22 racially and ethnically diverse unrelated FA patients (mean age ± SD: 14.0 ± 7.8 years; 10 male, 12 female; 14 white, 8 black was analysed by polymerase chain reaction and restriction site assays for identification of FANCA (delta3788-3790 and FANCC (delta322G, IVS4+4A -> T, W22X, L496R, R548X, Q13X, R185X, and L554P gene mutations. RESULTS: Mutations in FANCA and FANCC genes were identified in 6 (27.3% and 14 (63.6% out of 22 patients, respectively. The disease could not be attributed to the tested mutations in the two remaining patients enrolled in the study (9.1%. The registry of the two most prevalent gene abnormalities (delta3788-3790 and IVS4 + 4 -> T revealed that they were present in 18.2% and 15.9% of the FA alleles, respectively. Additional FANCC gene mutations were found in the study, with the following prevalence: delta322G (11.4%, W22X (9.1%, Q13X (2.3%, L554P (2.3%, and R548X (2.3% of total FA alleles. CONCLUSION: These results suggest that mutations of FANCA and FANCC genes are the most prevalent mutations among FA patients in Brazil.

Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene.

Science.gov (United States)

Oregel, Karlos Z; Shouse, Geoffrey P; Oster, Cyrus; Martinez, Freddy; Wang, Jun; Rosenzweig, Michael; Deisch, Jeremy K; Chen, Chien-Shing; Nagaraj, Gayathri

2018-03-30

BACKGROUND Gelsolin amyloidosis is a very rare systemic disease presenting with a pathognomonic triad of corneal lattice dystrophy, cutis laxa, and polyneuropathy. The disease is mostly restricted to a Finnish population with known mutations (G654A, G654T) in exon 4 of the gelsolin gene. The mutations lead to errors in protein processing and folding, and ultimately leads to deposition of an amyloidogenic fragment in the extracellular space, causing the symptoms of disease. CASE REPORT We present a case of gelsolin amyloidosis in a male of African descent with an atypical clinical presentation including fevers, skin rash, polyneuropathy, and anemia. Gelsolin amyloidosis was diagnosed based on mass spectrometry of tissue samples. Importantly, a novel mutation in the gelsolin gene (C1375G) in exon 10 was found in this patient. His atypical presentation can possibly be attributed to the presence of a novel mutation in the gelsolin gene as the likely underlying cause of the syndrome. PCR primers were used to amplify the gelsolin gene from genomic DNA. Purified PCR products were then shipped to Eton Biosciences (San Diego, CA) for sequencing. CONCLUSIONS This study carries several important lessons relevant to the practice of medicine. First, the differential diagnosis for multisystem disease presentations should always include amyloidosis. Second, despite what has been uncovered about the molecular biology of disease, there is always more that can be discovered. Finally, further work to verify the link between this mutation and the clinical syndrome is still needed, as are effective treatments for this disease.

Monitoring mutations in people: an in vivo study of people accidentally or occupationally exposed to ionizing radiation

International Nuclear Information System (INIS)

Glickman, B.W.

1996-01-01

Recent developments in molecular biology and medicine now permit the monitoring of mutation in humans 'in vivo'. The most commonly used approach, and the main one reported in this paper, is the study of mutations at the hypoxanthine phosphoribosyl transferase (hprt) locus in peripheral T-lymphocytes. This paper deals with evidence from the radiological accident in Goiania, Brazil (where several hundred people were accidentally exposed to cesium-137), from a study of Soviet cosmonauts, and from monozygotic twins. The conclusions from Brazil are: mutation at hprt increases with age and is higher in smokers; in adults a linear dose response was found; no radiation-induced mutational fingerprint was found; children are particularly sensitive; the level of mutation dropped over several years (probably reflecting natural T-cell turnover). The conclusions from cosmonauts are: each cosmonaut had a significantly above-average level of mutation, but this may not be due to radiation at all; no 'fingerprint' was found, and there was no apparent dependence on dose. The study of twins showed a very strong correlation of mutant frequencies between one twin and the other, but this correlation decreased with age, presumably due to environmental effects. 1 tab., 2 figs

Use of mutation techniques for improvement of cereals in Latin America. Final reports of a co-ordinated research programme

Energy Technology Data Exchange (ETDEWEB)

NONE

1996-01-01

This publication presents the scientific results obtained under the FAO/IAEA Co-ordinated Research Programme on Improvement of Cereals in Latin America through Mutation Breeding. Some of the selected mutants were already tested in multilocation trials and had higher yields and/or other advantages, in comparison with the leading local varieties. On the basis of these results it it expected that a few new mutant varieties of rice (Brazil, Costa Rica, Cuba, Guatemala), wheat (Brazil, Chile) and barley (Peru) will be officially released within the next few years. Still more mutants, which are valuable for conventional breeding programmes as new sources of desired genes, were selected. Refs, figs and tabs.

Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

Science.gov (United States)

Sunga, Annette Y; Ricker, Charité; Espenschied, Carin R; Castillo, Danielle; Melas, Marilena; Herzog, Josef; Bannon, Sarah; Cruz-Correa, Marcia; Lynch, Patrick; Solomon, Ilana; Gruber, Stephen B; Weitzel, Jeffrey N

2017-04-01

Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is caused by mismatch repair (MMR) gene mutations. However, data about MMR mutations in Hispanics are limited. This study aims to describe the spectrum of MMR mutations in Hispanics with LS and explore ancestral origins. This case series involved an IRB-approved retrospective chart review of self-identified Hispanic patients (n = 397) seen for genetic cancer risk assessment at four collaborating academic institutions in California, Texas, and Puerto Rico who were evaluated by MMR genotyping and/or tumor analysis. A literature review was conducted for all mutations identified. Of those who underwent clinical genetic testing (n = 176), 71 had MMR gene mutations. Nine mutations were observed more than once. One third (3/9) of recurrent mutations and two additional mutations (seen only once) were previously reported in Spain, confirming the influence of Spanish ancestry on MMR mutations in Hispanic populations. The recurrent mutations identified (n = 9) included both previously reported mutations as well as unique mutations not in the literature. This is the largest report of Hispanic MMR mutations in North America; however, a larger sample and haplotype analyses are needed to better understand recurrent MMR mutations in Hispanic populations. Copyright © 2017. Published by Elsevier Inc.

Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis

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Marcella B. Baptista MSc

2016-04-01

Full Text Available GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder with high prevalence in Brazil (1:17 000. In the present study, we genotyped 10 individuals of 9 unrelated families from the States of São Paulo and Minas Gerais diagnosed with the juvenile and chronic forms of the disease. We found the previously described p.Thr500Ala mutation in 8 alleles; c.1622-1627insG and p.Arg59His in 2 alleles (the latter also segregating with c.1233+8T>C; and p.Phe107Leu, p.Leu173Pro, p.Arg201His, and p.Gly311Arg in 1 allele each. Two mutations (p.Ile354Ser and p.Thr384Ser and 1 neutral alteration (p.Pro152= are described for the first time. All patients presented as compound heterozygotes. A discussion on genotype–phenotype correlation is also presented.

Phylogenetic analysis of partial RNA-polymerase blocks II and III of Rabies virus isolated from the main rabies reservoirs in Brazil.

Science.gov (United States)

Carnieli, Pedro; de Novaes Oliveira, Rafael; de Oliveira Fahl, Willian; de Carvalho Ruthner Batista, Helena Beatriz; Scheffer, Karin Corrêa; Iamamoto, Keila; Castilho, Juliana Galera

2012-08-01

This study describes the results of the sequencing and analysis of segments of Blocks II and III of the RNA polymerase L gene of Rabies virus isolates from different reservoir species of Brazil. The phylogenetic relations of the virus were determined and a variety of species-specific nucleotides were found in the analyzed areas, but the majority of these mutations were found to be synonymous. However, an analysis of the putative amino acid sequences were shown to have some characteristic mutations between some reservoir species of Brazil, indicating that there was positive selection in the RNA polymerase L gene of Rabies virus. On comparing the putative viral sequences obtained from the Brazilian isolates and other Lyssavirus, it was determined that amino acid mutations occurred in low-restriction areas. This study of the L gene of Rabies virus is the first to be conducted with samples of virus isolates from Brazil, and the results obtained will help in the determination of the phylogenetic relations of the virus.

Present status of rice breeding by induced mutations in Taiwan, Republic of China

Energy Technology Data Exchange (ETDEWEB)

Hu, C H [Taiwan Provincial Chung-Hsing University, Taichung, Taiwan (China); Wu, H P; Li, H W [Academia Sinica, Nankang, Taipei, Taiwan (China)

1970-03-01

Since 1957, fourteen varieties, including both indica and japonica, have been treated with X-rays, gamma rays, thermal neutrons and EMS for inducing mutations. The objectives are: (1) To obtain erectoid mutants of good lodging resistance from the tall native varieties which can be adapted for intensive culture; (2) To obtain early maturing mutants with at least the same yield as the original variety, so that the multiple cropping system of Taiwan can be easily handled; and (3) To obtain disease-resistant mutants. The results obtained suggest that after a useful gene such as erectoid has been obtained by induced mutation, it can be used immediately. But in general, it will be more useful to combine this character into other genotypic backgrounds by cross-breeding. Henceforth, further breeding must be carried out by cross-breeding. A number of promising lines were selected from induced mutants after being crossed with local varieties and the advanced test of these lines is being carried on at present. (author)

Present status of rice breeding by induced mutations in Taiwan, Republic of China

International Nuclear Information System (INIS)

Hu, C.H.; Wu, H.P.; Li, H.W.

1970-01-01

Since 1957, fourteen varieties, including both indica and japonica, have been treated with X-rays, gamma rays, thermal neutrons and EMS for inducing mutations. The objectives are: (1) To obtain erectoid mutants of good lodging resistance from the tall native varieties which can be adapted for intensive culture; (2) To obtain early maturing mutants with at least the same yield as the original variety, so that the multiple cropping system of Taiwan can be easily handled; and (3) To obtain disease-resistant mutants. The results obtained suggest that after a useful gene such as erectoid has been obtained by induced mutation, it can be used immediately. But in general, it will be more useful to combine this character into other genotypic backgrounds by cross-breeding. Henceforth, further breeding must be carried out by cross-breeding. A number of promising lines were selected from induced mutants after being crossed with local varieties and the advanced test of these lines is being carried on at present. (author)

Waardenburg syndrome: Novel mutations in a large Brazilian sample.

Science.gov (United States)

Bocángel, Magnolia Astrid Pretell; Melo, Uirá Souto; Alves, Leandro Ucela; Pardono, Eliete; Lourenço, Naila Cristina Vilaça; Marcolino, Humberto Vicente Cezar; Otto, Paulo Alberto; Mingroni-Netto, Regina Célia

2018-06-01

This paper deals with the molecular investigation of Waardenburg syndrome (WS) in a sample of 49 clinically diagnosed probands (most from southeastern Brazil), 24 of them having the type 1 (WS1) variant (10 familial and 14 isolated cases) and 25 being affected by the type 2 (WS2) variant (five familial and 20 isolated cases). Sequential Sanger sequencing of all coding exons of PAX3, MITF, EDN3, EDNRB, SOX10 and SNAI2 genes, followed by CNV detection by MLPA of PAX3, MITF and SOX10 genes in selected cases revealed many novel pathogenic variants. Molecular screening, performed in all patients, revealed 19 causative variants (19/49 = 38.8%), six of them being large whole-exon deletions detected by MLPA, seven (four missense and three nonsense substitutions) resulting from single nucleotide substitutions (SNV), and six representing small indels. A pair of dizygotic affected female twins presented the c.430delC variant in SOX10, but the mutation, imputed to gonadal mosaicism, was not found in their unaffected parents. At least 10 novel causative mutations, described in this paper, were found in this Brazilian sample. Copy-number-variation detected by MLPA identified the causative mutation in 12.2% of our cases, corresponding to 31.6% of all causative mutations. In the majority of cases, the deletions were sporadic, since they were not present in the parents of isolated cases. Our results, as a whole, reinforce the fact that the screening of copy-number-variants by MLPA is a powerful tool to identify the molecular cause in WS patients. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

Mutation breeding in vivo and in vitro in vegetatively propagated crops

International Nuclear Information System (INIS)

Tulmann Neto, A.; Latado, R.R.; Tsai, S.M.; Derbyshire, M.T.; Yemma, A.F.; Scarpare Filho, J.A.; Ceravolo, L.; Rossi, A.C.; Namekata, T.; Pompeu, J. Jr.; Figueiredo, J.O.; Pio, R.; Tobias Domingues, E.; Santos, P.C.; Boliani, A.

2001-01-01

Mutation breeding in vivo and/or in vitro in vegetatively propagated crops as well as somaclonal variation can be used in Brazil in several crops to increase the genetic variability in characteristics of high importance. This was the objective of this research using ornamentals, citrus and bananas. Somaclonal variants can also be useful in these crops, based on the preliminary results observed in banana (Mycosphaerella musicola); where a short plant variant was selected in Brazil and the mutant resistant to yellow sigatoka, selected in Venezuela, showed resistance also in Brazil. Despite the increase in genetic variability in M 1 V 4 generation obtained after in vitro irradiation of meristems in banana, mutants resistant or tolerant to Fusarium were not selected, perhaps due to the limited number of plants evaluated. In citrus the first results from yield trials showed that following bud irradiation, it was possible to select plants of interest, e.g. mutants with a reduced number of seeds in the fruits. In ornamentals mutants induced by gamma rays in this project were released to the farmers. The results obtained in this research showed that biotechnology is a powerful tool that can be used in several ways in association with mutation breeding. (author)

The monazite cycle in Brazil: Past, present and future

International Nuclear Information System (INIS)

Paschoa, A.S.

1994-01-01

Monazite sands started being extracted in Brazil to be sent to Europe as raw material to produce thorium nitrate to fabricate mantles for gaseous or kerosene lamps, before the beginning of the twentieth century. The increasing use of electricity for public illumination in the second decade of this century corresponded to a decrease in the use of monazite. Around 1936, the production of monazite was restarted in Brazil. On February 2, 1952, the Brazilian government created the Comissao de Exportacao de Materiais Estrategicos (the Commission for Exportation of Strategic Materials) presided over by the Minister of Foreign Relations, and on the same day it was authorized for the first time, the legal exportation of monazite sands. Today, the monazite industrial cycle produces tri-sodic phosphates and rare earth chlorides plus thorium and uranium compounds as byproducts. Future plans concerning handling, transportation and storage of these byproducts are reviewed. Several methods to minimize the problems created by the unwanted radioactive byproducts of the monazite cycle are under study. The paper discusses briefly the future impact that the current developments in new research materials may have in the industrial processes selected to open up the monazite and to extract its constituents. 52 refs

Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

NARCIS (Netherlands)

van der Werf, Christine S.; Sribudiani, Yunia; Verheij, Joke B. G. M.; Carroll, Matthew; O'Loughlin, Edward; Chen, Chien-Huan; Brooks, Alice S.; Liszewski, M. Kathryn; Atkinson, John P.; Hofstra, Robert M. W.

Purpose: Autosomal recessive congenital short bowel syndrome is caused by mutations in CLMP. No mutations were found in the affected males of a family with presumed X-linked congenital short bowel syndrome or in an isolated male patient. Our aim was to identify the disease-causing mutation in these

Single nucleotide polymorphism array lesions, TET2, DNMT3A, ASXL1 and CBL mutations are present in systemic mastocytosis.

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Fabiola Traina

Full Text Available We hypothesized that analysis of single nucleotide polymorphism arrays (SNP-A and new molecular defects may provide new insight in the pathogenesis of systemic mastocytosis (SM. SNP-A karyotyping was applied to identify recurrent areas of loss of heterozygosity and bidirectional sequencing was performed to evaluate the mutational status of TET2, DNMT3A, ASXL1, EZH2, IDH1/IDH2 and the CBL gene family. Overall survival (OS was analyzed using the Kaplan-Meier method. We studied a total of 26 patients with SM. In 67% of SM patients, SNP-A karyotyping showed new chromosomal abnormalities including uniparental disomy of 4q and 2p spanning TET2/KIT and DNMT3A. Mutations in TET2, DNMT3A, ASXL1 and CBL were found in 23%, 12%, 12%, and 4% of SM patients, respectively. No mutations were observed in EZH2 and IDH1/IDH2. Significant differences in OS were observed for SM mutated patients grouped based on the presence of combined TET2/DNMT3A/ASXL1 mutations independent of KIT (P = 0.04 and sole TET2 mutations (P<0.001. In conclusion, TET2, DNMT3A and ASXL1 mutations are also present in mastocytosis and these mutations may affect prognosis, as demonstrated by worse OS in mutated patients.

Variants of the HNF1α gene: a molecular approach concerning diabetic patients from southern Brazil

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Naieli Bonatto

2012-01-01

Full Text Available Maturity Onset Diabetes of the Young (MODY presents monogenic inheritance and mutation factors which have already been identified in six different genes. Given the wide molecular variation present in the hepatocyte nuclear factor-1α gene (HNF1α MODY3, the aimof this study was to amplify and sequence the coding regions of this gene in seven patients from the Campos Gerais region, Paraná State, Brazil, presenting clinical MODY3 features. Besides the synonymous variations, A15A, L17L, Q141Q, G288G and T515T, two missense mutations, I27L and A98V, were also detected. Clinical and laboratory data obtained from patients were compared with the molecular findings, including the I27L polymorphism that was revealed in some overweight/obese diabetic patients of this study, this corroborating with the literature. We found certain DNA variations that could explain the hyperglycemic phenotype of the patients.

The invasive MenC cc103 lineage with penicillin reduced susceptibility persisting in Brazil.

Science.gov (United States)

Fonseca, Érica L; Marin, Michel A; Freitas, Fernanda S; Vitório, Bruna S A; de Araújo, Flávio M G; Camargo, Dhian R A; Coimbra, Roney S; De Filippis, Ivano R; Vicente, Ana Carolina P

2017-09-01

Penicillin is the antibiotic of choice for the treatment of meningococcal infections, and mutations in penA gene are involved with reduced susceptibility (pen I ) emergence to this antibiotic. This study aimed to characterize the penA allelic diversity, their association with pen I phenotype and distribution among prevalent meningococci serogroups in Brazil. The entire penA from 49 invasive strains of distinct serogroups circulating in Brazil for more than two decades were obtained by PCR and sequencing. Additionally, the penA from 22 publicly available complete Neisseria meningitidis genomes from Brazil were included in the study. The allelic diversity was determined and a genetic tree was built using the penA sequence alignment. The penicillin MIC was obtained by the E-Test method. In general, the identified penA alleles correlated with the observed pen I phenotype. The canonical penA1 was the most prevalent allele, however, several altered penA were also identified in strains presenting increased penicillin MICs. It was identified a new penA amino acid position (residue 480) that possibly influence the penicillin MIC in some strains. Interestingly, the altered penA14 was found in pen I invasive MenC cc103 strains spread in Brazil and persisting since 2011, indicating that the biological cost imposed by pen I phenotype can be ameliorated by particular features present in this lineage, which represents an additional public health threat. Copyright © 2017 Elsevier GmbH. All rights reserved.

Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

DEFF Research Database (Denmark)

Pagel, Julia; Beutel, Karin; Lehmberg, Kai

2012-01-01

the genetic and clinical spectrum of FHL5, we analyzed a cohort of 185 patients with suspected FHL for mutations in STXBP2. We detected biallelic mutations in 37 patients from 28 families of various ethnic origins. Missense mutations and mutations affecting 1 of the exon 15 splice sites were the predominant...... changes detectable in this cohort. Patients with exon 15 splice-site mutations (n = 13) developed clinical manifestations significantly later than patients with other mutations (median age, 4.1 year vs 2 months) and showed less severe impairment of degranulation and cytotoxic function of NK cells and CTLs....... Patients with FHL5 showed several atypical features, including sensorineural hearing deficit, abnormal bleeding, and, most frequently, severe diarrhea that was only present in early-onset disease. In conclusion, we report the largest cohort of patients with FHL5 so far, describe an extended disease...

Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

Science.gov (United States)

Canafoglia, Laura; Gennaro, Elena; Capovilla, Giuseppe; Gobbi, Giuseppe; Boni, Antonella; Beccaria, Francesca; Viri, Maurizio; Michelucci, Roberto; Agazzi, Pamela; Assereto, Stefania; Coviello, Domenico A; Di Stefano, Maria; Rossi Sebastiano, Davide; Franceschetti, Silvana; Zara, Federico

2012-12-01

Unverricht-Lundborg disease (EPM1A) is frequently due to an unstable expansion of a dodecamer repeat in the CSTB gene, whereas other types of mutations are rare. EPM1A due to homozygous expansion has a rather stereotyped presentation with prominent action myoclonus. We describe eight patients with five different compound heterozygous CSTB point or indel mutations in order to highlight their particular phenotypical presentations and evaluate their genotype-phenotype relationships. We screened CSTB mutations by means of Southern blotting and the sequencing of the genomic DNA of each proband. CSTB messenger RNA (mRNA) aberrations were characterized by sequencing the complementary DNA (cDNA) of lymphoblastoid cells, and assessing the protein concentrations in the lymphoblasts. The patient evaluations included the use of a simplified myoclonus severity rating scale, multiple neurophysiologic tests, and electroencephalography (EEG)-polygraphic recordings. To highlight the particular clinical features and disease time-course in compound heterozygous patients, we compared some of their characteristics with those observed in a series of 40 patients carrying the common homozygous expansion mutation observed at the C. Besta Foundation, Milan, Italy. The eight compound heterozygous patients belong to six EPM1A families (out of 52; 11.5%) diagnosed at the Laboratory of Genetics of the Galliera Hospitals in Genoa, Italy. They segregated five different heterozygous point or indel mutations in association with the common dodecamer expansion. Four patients from three families had previously reported CSTB mutations (c.67-1G>C and c.168+1_18del); one had a novel nonsense mutation at the first exon (c.133C>T) leading to a premature stop codon predicting a short peptide; the other three patients from two families had a complex novel indel mutation involving the donor splice site of intron 2 (c.168+2_169+21delinsAA) and leading to an aberrant transcript with a partially retained intron

Opening up Brazil's hydrocarbon sector - the Bolivia-Brazil pipeline

International Nuclear Information System (INIS)

Law, P.

2000-01-01

The Bolivia-Brazil natural gas pipeline, which transports natural gas more than 3000 km from Bolivia to Brazil, cost US$2.1 billion to construct. Despite the substantial benefits for both Bolivia and Brazil and the involvement of reputable private partners, the perceived risks and complexities of this large project made financing it major challenge. neither of these countries has had a tradition of independent regulation or economic fuel pricing, and the pipeline was the first major gas infrastructure project involving the private sector in Brazil. The presentation explains the historical features of the project and how the project was used to open up Brazilian oil and gas sector to private investment and competition. (author)

A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene.

Science.gov (United States)

Miao, Jing; Feng, Jia-Chun; Zhu, Dan; Yu, Xue-Fan

2016-12-12

Becker muscular dystrophy (BMD), a genetic disorder of X-linked recessive inheritance, typically presents with gradually progressive muscle weakness. The condition is caused by mutations of Dystrophin gene located at Xp21.2. Epilepsy is an infrequent manifestation of BMD, while cases of BMD with dysgnosia are extremely rare. We describe a 9-year-old boy with BMD, who presented with epilepsy and dysgnosia. Serum creatine kinase level was markedly elevated (3665 U/L). Wechsler intelligence tests showed a low intelligence quotient (IQ = 65). Electromyogram showed slight myogenic changes and skeletal muscle biopsy revealed muscular dystrophy. Immunohistochemical staining showed partial positivity of sarcolemma for dystrophin-N. Multiplex ligation-dependent probe amplification revealed a duplication mutation in exons 37-44 in the Dystrophin gene. The present case report helps to better understand the clinical and genetic features of BMD.

Determination of thermotolerant coliforms present in coconut water produced and bottled in the Northeast of Brazil

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Vandbergue Santos Pereira

2017-10-01

Full Text Available Abstract Coconut water is considered to be a natural isotonic drink and its marketing is gradually increasing. The objective of the present study was to evaluate the microbiological quality of the coconut water produced and bottled in the Northeast of Brazil. Products form ten industries from different states in the Northeast of Brazil were analyzed. The most probable number (MPN method was used to quantify the coliforms. Samples showing positive for coliforms were seeded on ChromAgar Orient plates and the bacteria identified from isolated colonies using the automated system Vitek 2 (BioMérieux, according to the manufacturer's instructions for the preparation of the inoculum, incubation, reading and interpretation. The samples showed thermotolerant coliform counts between 6.0×102 and 2.6×104 MPN/100 mL. The presence of Klebsiella pneumoniae, Morganella morganii and Providencia alcalifaciens was observed. The implementation of preventive methods and monitoring of the water quality by the industries is required.

The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia.

Science.gov (United States)

Leng, Yinglin; Liu, Yuhe; Fang, Xiaojing; Li, Yao; Yu, Lei; Yuan, Yun; Wang, Zhaoxia

2015-04-01

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes/Leigh (MELAS/LS) overlap syndrome is a mitochondrial disorder subtype with clinical and magnetic resonance imaging (MRI) features that are characteristic of both MELAS and Leigh syndrome (LS). Here, we report an MELAS/LS case presenting with cortical deafness and seizures. Cranial MRI revealed multiple lesions involving bilateral temporal lobes, the basal ganglia and the brainstem, which conformed to neuroimaging features of both MELAS and LS. Whole mitochondrial DNA (mtDNA) sequencing and PCR-RFLP revealed a de novo heteroplasmic m.10197 G > A mutation in the NADH dehydrogenase subunit 3 gene (ND3), which was predicted to cause an alanine to threonine substitution at amino acid 47. Although the mtDNA m.10197 G > A mutation has been reported in association with LS, Leber hereditary optic neuropathy and dystonia, it has never been linked with MELAS/LS overlap syndrome. Our patient therefore expands the phenotypic spectrum of the mtDNA m.10197 G > A mutation.

Clinical presentation of atopic dermatitis by filaggrin gene mutation status during the first 7 years of life in a prospective cohort study

DEFF Research Database (Denmark)

Giwercman, Charlotte; Rasmussen, Morten Arendt; Thyssen, Jacob B.

2012-01-01

Filaggrin null mutations result in impaired skin barrier functions, increase the risk of early onset atopic dermatitis and lead to a more severe and chronic disease. We aimed to characterize the clinical presentation and course of atopic dermatitis associated with filaggrin mutations within...

Lower genetic variability of HIV-1 and antiretroviral drug resistance in pregnant women from the state of Pará, Brazil.

Science.gov (United States)

Machado, Luiz Fernando Almeida; Costa, Iran Barros; Folha, Maria Nazaré; da Luz, Anderson Levy Bessa; Vallinoto, Antonio Carlos Rosário; Ishak, Ricardo; Ishak, Marluisa Oliveira Guimarães

2017-04-12

The present study aimed to describe the genetic diversity of HIV-1, as well as the resistance profile of the viruses identified in HIV-1 infected pregnant women under antiretroviral therapy in the state of Pará, Northern Brazil. Blood samples were collected from 45 HIV-1 infected pregnant to determine the virus subtypes according to the HIV-1 protease (PR) gene and part of the HIV-1 reverse transcriptase (RT) gene by sequencing the nucleotides of these regions. Drug resistance mutations and susceptibility to antiretroviral drugs were analyzed by the Stanford HIV Drug Resistance Database. Out of 45 samples, only 34 could be amplified for PR and 30 for RT. Regarding the PR gene, subtypes B (97.1%) and C (2.9%) were identified; for the RT gene, subtypes B (90.0%), F (6.7%), and C (3.3%) were detected. Resistance to protease inhibitors (PI) was identified in 5.8% of the pregnant, and mutations conferring resistance to nucleoside reverse transcriptase inhibitors were found in 3.3%, while mutations conferring resistance to non-nucleoside reverse transcriptase inhibitors were found in 3.3%. These results showed a low frequency of strains resistant to antiretroviral drugs, the prevalence of subtypes B and F, and the persistent low transmission of subtype C in pregnant of the state of Pará, Brazil.

Molecular mutation breeding: Modern variety breeding for present and future needs

International Nuclear Information System (INIS)

Lagoda, P.J.L.; Mba, C.; Shu, Chikelu Mba; Shu, Q.Y.; Afza, R.; Till, B.; Spencer, M.; Lokko, Y.

2009-01-01

Induced crop mutation strategies have, since the seminal article of Stadler (1928), in the past over 50 years played a major role in the development of superior crop varieties. With over 2700 officially released crop mutants in more than 170 plant species, translating into a tremendous economic impact valued in billions of dollars and tens of millions of cultivated hectares. The Joint FAO/IAEA Programme has for over 40 years been promoting the efficient use of mutation techniques as a complementary tool for developing superior crop varieties. The Joint FAO/IAEA Programme through research coordination provides a global platform for scientists to work on common induced crop mutagenesis related themes. Through the Technical Cooperation Project mechanism of the IAEA, direct technical input and guidance have been provided to scientists, especially in the Least Developed Countries (LDC) of the world and have contributed immensely to capacity building and the development of mutant crop varieties that address specific production constraints. The Joint FAO/IAEA Programme has a training, service and research and development (R and D) unit dedicated exclusively to induced crop mutagenesis at the IAEA Laboratories in Seibersdorf, Austria. In addition to the traditional roles of supporting capacity building in LDC member states of both FAO and IAEA, the R and D activities of this laboratory component addresses the enhancement of the efficiency of processes related to induced crop mutagenesis. This paper while presenting an overview of the contributions of induced mutagenesis to sustainable agricultural productivity also posits that the technology has great potentials for adding value to high yielding, stable crop varieties through the development of hardy variants that being adaptable to extreme abiotic stresses are important for addressing the constraints of climate change. Also, through the subtle modification of quality traits in otherwise good varieties, induced crop

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2

DEFF Research Database (Denmark)

Meeths, Marie; Entesarian, Miriam; Al-Herz, Waleed

2010-01-01

Hemophagocytic lymphohistiocytosis (HLH) is an often-fatal hyperinflammatory syndrome characterized by fever, hepatosplenomegaly, cytopenia, and in some cases hemophagocytosis. Here, we describe the mutation analysis, clinical presentation, and functional analysis of natural killer (NK) cells...... (FHL), the clinical findings included colitis, bleeding disorders, and hypogammaglobulinemia in approximately one-third of the patients. Laboratory analysis revealed impairment of NK-cell degranulation and cytotoxic capacity. Interleukin-2 stimulation of lymphocytes in vitro rescued the NK cell......-associated functional defects. In conclusion, familial HLH type 5 is associated with a spectrum of clinical symptoms, which may be a reflection of impaired expression and function of Munc18-2 also in cells other than cytotoxic lymphocytes. Mutations in STXBP2 should thus also be considered in patients with clinical...

A Retrospective Review of Conjunctival Melanoma Presentation, Treatment, and Outcome and an Investigation of Features Associated With BRAF Mutations

DEFF Research Database (Denmark)

Larsen, Ann-Cathrine; Dahmcke, Christina M.; Dahl, Christina

2015-01-01

IMPORTANCE: Large studies investigating clinical presentation and treatment in primary conjunctival melanoma (CM) are rare. Clinicopathological characteristics of BRAF-mutated CM have not been studied thoroughly. OBJECTIVES: To determine the associations of clinicopathological tumor features...... and treatment with local recurrence, metastasis, and mortality and to determine the association of BRAF mutations with these features. DESIGN, SETTING, AND PARTICIPANTS: Population-based cohort study at the Eye Pathology Institute, Copenhagen, Denmark. Participants included 139 patients with primary CM...

Inheritance of a new albino mutation in Brazilian free-range black chickens

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W Jorge

2008-09-01

Full Text Available A genetically recessive albino mutation, which inhibits pigment development in the eyes, skin, and feathers of domestic chickens from Brazil, is described. This mutation appeared in a flock of completely black chickens of a private breeder. There are no information on the origin, breed, or specific line of the birds. Pigment inhibition is apparently complete in the feathers and eyes. Bird sight is very impaired, but no histological examination was carried out. Ratios obtained in F2 and backcrossed birds indicate that a single autosomal recessive gene is responsible for the condition. The data suggest that the absence of melanin in the eyes, skin, and feathers (symbol cc is a mutation of the pigmented C wild gene.

Novel mutations associated with pyruvate kinase deficiency in Brazil

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Maria Carolina Costa Melo Svidnicki

2018-01-01

Full Text Available Background: Pyruvate kinase deficiency is a hereditary disease that affects the glycolytic pathway of the red blood cell, causing nonspherocytic hemolytic anemia. The disease is transmitted as an autosomal recessive trait and shows a marked variability in clinical expression. This study reports on the molecular characterization of ten Brazilian pyruvate kinase-deficient patients and the genotype–phenotype correlations. Method: Sanger sequencing and in silico analysis were carried out to identify and characterize the genetic mutations. A non-affected group of Brazilian individuals were also screened for the most commonly reported variants (c.1456C>T and c.1529G>A. Results: Ten different variants were identified in the PKLR gene, of which three are reported here for the first time: p.Leu61Gln, p.Ala137Val and p.Ala428Thr. All the three missense variants involve conserved amino acids, providing a rationale for the observed enzyme deficiency. The allelic frequency of c.1456C>T was 0.1% and the 1529G>A variant was not found. Conclusion: This is the first comprehensive report on molecular characterization of pyruvate kinase deficiency from South America. The results allowed us to correlate the severity of the clinical phenotype with the identified variants. Keywords: Red cell disorder, Pyruvate kinase, Mutation, Hemolytic anemia, PKLR gene

The E180splice mutation in the GHR gene causing Laron syndrome: witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

Science.gov (United States)

Gonçalves, Fernanda T; Fridman, Cintia; Pinto, Emília M; Guevara-Aguirre, Jaime; Shevah, Orit; Rosembloom, Arlan L; Hwa, Vivian; Cassorla, Fernando; Rosenfeld, Ron G; Lins, Theresa S S; Damiani, Durval; Arnhold, Ivo J P; Laron, Zvi; Jorge, Alexander A L

2014-05-01

Laron syndrome (LS) is a genetic disorder caused by mutations in the growth hormone receptor (GHR) gene. The most frequent GHR mutation is E180splice (rs121909360), which was initially found in an inbred population of Spanish descent in Ecuador and subsequently in Israel, Brazil, Chile, and the United States. The aim of the present study is to determine if the E180splice mutation arose from a common origin. We studied 22 patients with LS from Ecuador, Israel (of Moroccan origin), Brazil, Chile, and the United States (of Mexican origin) who were homozygous for the E180splice mutation and compared them to control individuals for markers surrounding the GHR, intragenic polymorphisms, and Y-chromosome STR. An identical haplotype was found in all but one of the subjects carrying the E180splice mutation: D5S665: 150/150; D5S2082: 192/192; D5S2087: 246/246; rs6179 G/G; and rs6180 C/C. One patient differed from the others only at D5S2082 (168/192). This haplotype is rare (~1%) in control individuals and confirmed that the E180splice-associated haplotype was not derived from independent origins but represented recombination from a common ancestor. The analysis of paternal lineage markers showed that 50% belong to haplogroup R1b (found in Portugal and Spain) and 40% to haplogroups J and E (typical in the Middle East and in Eastern European Jews). The germline E180Splice mutation appears to have originated from a single common ancestor. The presence of Y-chromosome markers associated with Sephardic populations in persons harboring the E180splice mutation provides genetic evidence in support of the historical tracking of the exodus of this specific population. © 2014 Wiley Periodicals, Inc.

Frequency of the MDR1 mutant allele associated with multidrug sensitivity in dogs from Brazil

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Monobe MM

2015-04-01

Full Text Available Marina M Monobe,1 João P Araujo Junior,2 Kari V Lunsford,3 Rodrigo C Silva,4 Camilo Bulla41Department of Veterinary Clinics, School of Veterinary Medicine and Animal Science, 2Department of Microbiology and Immunology, Biosciences Institute, Sao Paulo State University (UNESP, Botucatu, Brazil; 3Department of Clinical Sciences and Animal Health Center, 4Department of Pathobiology and Population Medicine, College of Veterinary Medicine, Mississippi State University, Mississippi, MS, USAAbstract: To date, a 4-bp deletion in the MDR1 gene has been detected in more than ten dog breeds, as well as in mixed breed dogs, in several countries, however information regarding this mutation in dogs from Brazil is lacking. For this reason, 103 Collies, 77 Border Collies, 76 Shetland Sheepdogs, 20 Old English Sheepdogs, 55 German Shepherds, 16 Australian Shepherds, and 53 Whippets from Brazil were screened for the presence of the mutation. The heterozygous mutated genotype, MDR1 (+/−, frequency found for Collies, Australian Shepherd, and Shetland Sheepdog was 50.5% (95% CI =41.1%–59.9%, 31.3% (95% CI =8.6%–53.2%, and 15.8% (95% CI =7.7%–23.9%, respectively. Homozygous mutated genotype, MDR1 (−/−, was detected only in Collies 35.9%. The MDR1 allele mutant frequency found for Collies, Australian Shepherd, and Shetland Sheepdog was 61.2% (95% CI =54.8%–67.5%, 15.6% (95% CI =3.1%–28.2%, and 7.9% (95% CI =3.7%–12.1%, respectively. Additionally, even free of the mutant allele, the maximum mutant prevalence (MMP in that population, with 95% CI, was 3.8%, 5.2%, 5.4%, and 13.8% for Border Collies, German Shepherds, Whippets, and Old English Sheepdogs, respectively. In this way, this information is important, not only for MDR1 genotype-based breeding programs and international exchange of breeding animals of predisposed breeds, but also for modification of drug therapy for breeds at risk.Keywords: P-glycoprotein, MDR1 mutation, ivermectin, dog, drug

The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene.

Science.gov (United States)

Inoue, Hirofumi; Terachi, Shin-Ichi; Uchiumi, Takeshi; Sato, Tetsuji; Urata, Michiyo; Ishimura, Masataka; Koga, Yui; Hotta, Taeko; Hara, Toshiro; Kang, Dongchon; Ohga, Shouichi

2017-07-01

Severe protein C (PC) deficiency is a rare heritable thrombophilia leading to thromboembolic events during the neonatal period. It remains unclear how individuals with complete PC gene (PROC) defects develop or escape neonatal stroke or purpura fulminans (PF). We studied the onset of disease and the genotype of 22 PC-deficient patients with double mutations in PROC based on our cohort (n = 12) and the previous reports (n = 10) in Japan. Twenty-two patients in 20 unrelated families had 4 homozygous and 18 compound heterozygous mutations. Sixteen newborns presented with PF (n = 11, 69%), intracranial thromboembolism and hemorrhage (n = 13, 81%), or both (n = 8, 50%), with most showing a plasma PC activity of <10%. Six others first developed overt thromboembolism when they were over 15 years of age, showing a median PC activity of 31% (range: 19-52%). Fifteen of the 22 patients (68%) had the five major mutations (G423VfsX82, V339M, R211W, M406I, and F181V) or two others (E68K and K193del) that have been reported in Japan. Three of the six late-onset cases, but none of the 16 neonatal cases, had the K193del mutation, which has been reported to be the most common variant of Chinese thrombophilia. A novel mutation of A309V was determined in a family of two patients with late onset. The genotype of double-PROC mutants might show less diversity than heterozygous mutants in terms of the timing of the onset of thrombophilia (newborn onset or late onset). © 2017 Wiley Periodicals, Inc.

The present status of Brazil-Japan Collaboration on Chacaltaya Emulsion chamber experiments

International Nuclear Information System (INIS)

Sawayanagi, K.

1983-01-01

A short guide of the recent results in Brazil-Japan Collaboration on Chacaltaya Emulsion Chamber Experiments is given. An emphasis is laid on the comparison of the cosmic ray data with the p sup(-)-p Collider's results. (Author) [pt

Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil.

Science.gov (United States)

Rozenberg, R; Kok, F; Burin, M G; Sá Miranda, M C; Vasques, C; Henriques-Souza, A M M; Giugliani, R; Vainzof, Mariz; Pereira, L V

2006-06-01

Molecular analysis of five Brazilian families, including eight patients presenting with nonclassic Tay-Sachs disease, was performed to identify frequent causative mutations and their correlation with clinical course. Three patients were affected by the B1 subacute variant and were shown to carry the R178H mutation (the DN allele), which is also common among Portuguese patients. Two of them were compound heterozygotes, whereas the third presented with the mutation in both alleles. Since Brazil was a Portuguese colony for over two centuries, common ancestry might be the probable explanation. The fourth patient presented with a juvenile phenotype and carries the R499H mutation, which has been reported only once worldwide and is associated with residual enzyme activity, responsible for a slower clinical course. The fifth family, of an Ashkenazi Jewish background, showed an extensive intrafamilial clinical variability among three affected sibs presenting with muscle atrophy, ataxia, and psychiatric symptoms. They were first diagnosed as having atypical spinal muscular atrophy and, subsequently, spinocerebellar ataxia, but, recently, the diagnosis of late-onset Tay-Sachs disease was confirmed based on reduced plasma hexosaminidase A activity and the G269S/InsTATC1278 genotype. It is therefore highly recommended to test patients with a similar clinical history for Tay-Sachs disease. In the same family, one first cousin committed suicide at the age of 24 years, presenting with a clinical phenotype that suggested an undiagnosed case and highlighting the effect of the intrafamilial clinical variability in delaying a prompt diagnosis. It is now recognized that his parents are, in fact, a carrier couple. Additionally, another relative had been previously identified as a heterozygote in a Tay-Sachs disease screening program, but the information was not shared among the family. Since this information might anticipate diagnosis and genetic counseling, it is advisable that

Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

DEFF Research Database (Denmark)

Meeths, Marie; Bryceson, Yenan T; Rudd, Eva

2010-01-01

Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes...

Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.

NARCIS (Netherlands)

Zankl, A.; Elakis, G.; Susman, R.D.; Inglis, G.; Gardener, G.; Buckley, M.F.; Roscioli, T.

2008-01-01

We present prenatal and postnatal features of a patient with severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Mutation analysis confirmed the clinical diagnosis by detecting the FGFR3 Lys650Met mutation. This case, one of only six with molecular analysis reported in

A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia

Energy Technology Data Exchange (ETDEWEB)

Stoilov, I.; Kilpatrick, M.W.; Tsipouras, P. [Univ. of Connecticut Health Center, Farmington, CT (United States)

1995-01-02

Achondroplasia is the most common type of genetic dwarfism. It is characterized by disproportionate short stature and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. Recent studies mapped the achondroplasia gene on chromosome region 4p16.3 and identified a common mutation in the gene encoding the fibroblast growth factor receptor 3 (FGFR3). In an analysis of 19 achondroplasia families from a variety of ethnic backgrounds we confirmed the presence of the G380R mutation in 21 of 23 achondroplasia chromosomes studied. In contrast, the G380R mutation was not found in any of the 8 hypochondroplasia chromosomes studied. Futhermore, linkage studies in a 3-generation family with hypochondroplasia show discordant segregation with markers in the 4p16.3 region suggesting that at least some cases of hypochondroplasia are caused by mutations in a gene other than FGFR3. 27 refs., 2 figs.

Amelanotic melanoma presenting with plasmacytoid morphology and BRAF V600 mutation

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Linda Kocovski

2015-06-01

Full Text Available Plasmacytoid melanoma is an unusual variant of malignant melanoma. The plasmacytoid morphology can be found in a variety of other malignancies including carcinomas, plasma cell neoplasms, lymphoproliferative disorders, and sarcomas. The authors report a rare case of plasmacytoid amelanotic malignant melanoma in a 78-year-old man presenting with an enlarging palpable, erythematous mass on his left posterior shoulder. A fine needle aspirate showed atypical findings with single amelanotic cells with high nuclear to cytoplasmic ratio, mono- and multi-nucleation with prominent nucleoli and intranuclear inclusions. Review of the excision and immunohistochemical analysis revealed the malignant plasmacytoid cells stained with vimentin, S-100, HMB-45, and other staining patterns consistent with melanoma. Initial evaluation was negative for other sites of disease. However, 4 months later, the patient was noted to have metastatic disease to his lungs and liver. Given that the tumor was noted to be BRAF V600R mutated, the patient was started on single agent dabrafenib. The plasmacytoid morphology can be found in a variety of malignancies. Melanoma should be considered in the differential diagnosis of any malignancy presenting with plasmacytoid features.

Infantile presentation of the mtDNA A3243G tRNA(Leu (UUR)) mutation.

NARCIS (Netherlands)

Okhuijsen-Kroes, E.J.; Trijbels, J.M.F.; Sengers, R.C.A.; Mariman, E.C.M.; Heuvel, L.P.W.J. van den; Wendel, U.A.H.; Koch, G.; Smeitink, J.A.M.

2001-01-01

Mitochondrial DNA (mtDNA) disorders are clinically very heterogeneous, ranging from single organ involvement to severe multisystem disease. One of the most frequently observed mtDNA mutations is the A-to-G transition at position 3243 of the tRNA(Leu (UUR)) gene. This mutation is often related to

Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion.

Science.gov (United States)

Meneses, Marina; Chavez-Bourgeois, Marion; Badenas, Celia; Villablanca, Salvador; Aguilera, Paula; Bennàssar, Antoni; Alos, Llucia; Puig, Susana; Malvehy, Josep; Carrera, Cristina

2015-01-01

Xeroderma pigmentosum (XP) is a genodermatosis caused by abnormal DNA repair. XP complementation group C (XPC) is the most frequent type in Mediterranean countries. We describe a case with a novel mutation in the XPC gene. A healthy Caucasian male patient was diagnosed with multiple primary melanomas. Digital follow-up and molecular studies were carried out. During digital follow-up 8 more additional melanomas were diagnosed. Molecular studies did not identify mutations in CDKN2A, CDK4 or MITF genes. Two heterozygous mutations in the XPC gene were detected: c.2287delC (p.Leu763Cysfs*4) frameshift and c.2212A>G (p.Thr738Ala) missense mutations. The p.Thr738Ala missense mutation has not been previously described. Missense mutations in the XPC gene may allow partial functionality that could explain this unusual late onset XP. Atypical clinical presentation of XPC could be misdiagnosed when genetic aberrations allow partial DNA repair capacity. © 2015 S. Karger AG, Basel.

The scaly tree ferns (Cyatheaceae-Polypodiopsida of Brazil

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Anna Weigand

2016-01-01

Full Text Available ABSTRACT A synopsis of all scaly tree fern species (Cyatheaceae occurring in Brazil is presented. We recognize 51 species in three genera [Sphaeropteris one species, Alsophila four species (one subspecies, two varieties, and Cyathea 45 species (one variety ] with 17 taxa being endemic to Brazil. One hybrid endemic to Brazil is recognized. Further included are five species that have not yet been recorded in Brazil, but are expected here because they are found in adjacent countries and occur literally on the border with Brazil. We present the first key covering the family for the whole territory of Brazil.

JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome.

Science.gov (United States)

Guegan, K; Stals, K; Day, M; Turnpenny, P; Ellard, S

2012-07-01

Alagille syndrome is a multisystem disorder characterized by highly variable expressivity, most frequently caused by heterozygous JAG1 gene mutations. Classic diagnostic criteria combine the presence of bile duct paucity on liver biopsy with three of five systems affected; liver, heart, skeleton, eye and dysmorphic facies. The aim of this study was to determine the prevalence and distribution of JAG1 mutations in patients referred for routine clinical diagnostic testing. Clinical data were available for 241 patients from 135 families. The index cases were grouped according to the number of systems affected (heart, liver, skeletal, eye and facies) and the mutation frequency calculated for each group. JAG1 mutations were identified in 59/135 (44%) probands. The highest mutation detection rates were observed in patients with the most frequent presenting features of Alagille syndrome; ranging from 20% (one system) to 86% (five systems). The overall mutation pick-up rate in a clinical diagnostic setting was lower than in previous research studies. Identification of a JAG1 gene mutation is particularly useful for those patients with atypical or mild Alagille syndrome who do not meet classic diagnostic criteria as it provides a definite molecular diagnosis and allows accurate genetic counselling for the family. © 2011 John Wiley & Sons A/S.

Age of heart disease presentation and dysmorphic nuclei in patients with LMNA mutations.

Science.gov (United States)

Core, Jason Q; Mehrabi, Mehrsa; Robinson, Zachery R; Ochs, Alexander R; McCarthy, Linda A; Zaragoza, Michael V; Grosberg, Anna

2017-01-01

Nuclear shape defects are a distinguishing characteristic in laminopathies, cancers, and other pathologies. Correlating these defects to the symptoms, mechanisms, and progression of disease requires unbiased, quantitative, and high-throughput means of quantifying nuclear morphology. To accomplish this, we developed a method of automatically segmenting fluorescently stained nuclei in 2D microscopy images and then classifying them as normal or dysmorphic based on three geometric features of the nucleus using a package of Matlab codes. As a test case, cultured skin-fibroblast nuclei of individuals possessing LMNA splice-site mutation (c.357-2A>G), LMNA nonsense mutation (c.736 C>T, pQ246X) in exon 4, LMNA missense mutation (c.1003C>T, pR335W) in exon 6, Hutchinson-Gilford Progeria Syndrome, and no LMNA mutations were analyzed. For each cell type, the percentage of dysmorphic nuclei, and other morphological features such as average nuclear area and average eccentricity were obtained. Compared to blind observers, our procedure implemented in Matlab codes possessed similar accuracy to manual counting of dysmorphic nuclei while being significantly more consistent. The automatic quantification of nuclear defects revealed a correlation between in vitro results and age of patients for initial symptom onset. Our results demonstrate the method's utility in experimental studies of diseases affecting nuclear shape through automated, unbiased, and accurate identification of dysmorphic nuclei.

New prognostic factor telomerase reverse transcriptase promotor mutation presents without MR imaging biomarkers in primary glioblastoma

Energy Technology Data Exchange (ETDEWEB)

Ersoy, Tunc F.; Simon, Matthias [University Hospital Bonn, Department of Neurosurgery and Stereotaxy, Bonn (Germany); Ev. Krankenhaus Bielefeld, Department of Neurosurgery, Bielefeld (Germany); Keil, Vera C.; Hadizadeh, Dariusch R.; Schild, Hans H. [University Hospital Bonn, Department of Radiology, Bonn (Germany); Gielen, Gerrit H.; Waha, Andreas [University Hospital Bonn, Institute of Neuropathology, Bonn (Germany); Fimmers, Rolf [IMBIE, University Hospital Bonn, Bonn (Germany); Heidenreich, Barbara; Kumar, Rajiv [DFKZ, Department of Molecular Genetic Epidemiology, Heidelberg (Germany)

2017-12-15

Magnetic resonance (MR) imaging biomarkers can assist in the non-invasive assessment of the genetic status in glioblastomas (GBMs). Telomerase reverse transcriptase (TERT) promoter mutations are associated with a negative prognosis. This study was performed to identify MR imaging biomarkers to forecast the TERT mutation status. Pre-operative MRIs of 64/67 genetically confirmed primary GBM patients (51/67 TERT-mutated with rs2853669 polymorphism) were analyzed according to Visually AcceSAble Rembrandt Images (VASARI) (https: //wiki.cancerimagingarchive.net/display/Public/VASARI+Research+Project) imaging criteria by three radiological raters. TERT mutation and O{sup 6}-methylguanine-DNA methyltransferase (MGMT) hypermethylation data were obtained through direct and pyrosequencing as described in a previous study. Clinical data were derived from a prospectively maintained electronic database. Associations of potential imaging biomarkers and genetic status were assessed by Fisher and Mann-Whitney U tests and stepwise linear regression. No imaging biomarkers could be identified to predict TERT mutational status (alone or in conjunction with TERT promoter polymorphism rs2853669 AA-allele). TERT promoter mutations were more common in patients with tumor-associated seizures as first symptom (26/30 vs. 25/37, p = 0.07); these showed significantly smaller tumors [13.1 (9.0-19.0) vs. 24.0 (16.6-37.5) all cm{sup 3}; p = 0.007] and prolonged median overall survival [17.0 (11.5-28.0) vs. 9.0 (4.0-12.0) all months; p = 0.02]. TERT-mutated GBMs were underrepresented in the extended angularis region (p = 0.03), whereas MGMT-methylated GBMs were overrepresented in the corpus callosum (p = 0.03) and underrepresented temporomesially (p = 0.01). Imaging biomarkers for prediction of TERT mutation status remain weak and cannot be derived from the VASARI protocol. Tumor-associated seizures are less common in TERT mutated glioblastomas. (orig.)

TP53 mutation p.R337H in gastric cancer tissues of a 12-year-old male child - evidence for chimerism involving a common mutant founder haplotype: case report

International Nuclear Information System (INIS)

Silva, Edaise M da; W Achatz, Maria Isabel; Martel-Planche, Ghyslaine; Montagnini, André L; Olivier, Magali; Prolla, Patricia A; Hainaut, Pierre; Soares, Fernando A

2011-01-01

Gastric adenocarcinoma is rare in children and adolescents, with about 17 cases under age 21 in the world's literature. We report a case of invasive well-differentiated metastatic gastric cancer in a Brazilian 12-year-old boy without documented familial history of cancer. The patient, diagnosed with metastatic disease, died seven months after surgery. DNA from intra-surgical specimens revealed a TP53 mutation at codon 337 (p.R337H) in samples with neoplastic cells (dysplasia, tumor and metastasis) but not in non-transformed cells (incomplete intestinal metaplasia and non-involved celiac lymph node). In all mutation-positive tissues, p.R337H occurred on the same background, a founder allele identified by a specific haplotype previously described in Brazilian Li-Fraumeni syndrome patients. The same mutant haplotype, corresponding to a founder mutation present in 0.3% of the general population in Southern Brazil, was found in the genome of the father. Presence of this inherited haplotype in the tumor as well as in the father's germline, suggests a rare case of microchimerism in this patient, who may have harbored a small number of mutant cells originating in another individual, perhaps a dizygotic twin that died early in gestation. This case represents one of the earliest ages at diagnosis of gastric cancer ever reported. It shows that cancer inheritance can occur in the absence of an obvious germline mutation, calling for caution in assessing early cancers in populations with common founder mutations such as p.R337H in Southern Brazil

The Inherited p53 Mutation in the Brazilian Population.

Science.gov (United States)

Achatz, Maria Isabel; Zambetti, Gerard P

2016-12-01

A common criticism of studying rare diseases is the often-limited relevance of the findings to human health. Here, we review ∼15 years of research into an unusual germline TP53 mutation (p.R337H) that began with its detection in children with adrenocortical carcinoma (ACC), a remarkably rare childhood cancer that is associated with poor prognosis. We have come to learn that the p.R337H mutation exists at a very high frequency in Southern and Southeastern Brazil, occurring in one of 375 individuals within a total population of ∼100 million. Moreover, it has been determined that carriers of this founder mutation display variable tumor susceptibility, ranging from isolated cases of pediatric ACC to Li-Fraumeni or Li-Fraumeni-like (LFL) syndromes, thus representing a significant medical issue for this country. Studying the biochemical and molecular consequences of this mutation on p53 tumor-suppressor activity, as well as the putative additional genetic alterations that cooperate with this mutation, is advancing our understanding of how p53 functions in tumor suppression in general. These studies, which originated with a rare childhood tumor, are providing important information for guiding genetic counselors and physicians in treating their patients and are already providing clinical benefit. Copyright © 2016 Cold Spring Harbor Laboratory Press; all rights reserved.

Same β-globin gene mutation is present on nine different β-thalassemia chromosomes in a Sardinian population

International Nuclear Information System (INIS)

Pirastu, M.; Galanello, R.; Doherty, M.A.; Tuveri, T.; Cao, A.; Kan, Y.W.

1987-01-01

The predominant β-thalassemia in Sardinia is the β 0 type in which no β-globin chains are synthesized in the homozygous state. The authors determined the β-thalassemia mutations in this population by the oligonucleotide-probe method and defined the chromosome haplotypes on which the mutation resides. The same β/sup 39(CAG→TAG)/ nonsense mutation was found on nine different chromosome haplotypes. Although this mutation may have arisen more than once, the multiple haplotypes could also be generated by crossing over and gene conversion events. These findings underscore the frequency of mutational events in the β-globin gene region

Brazil, China, US: a triangular relation?

Directory of Open Access Journals (Sweden)

José-Augusto Guilhon-Albuquerque

2014-01-01

Full Text Available This article is divided in three sections. The first one explores the so-called "strategic partnership" between Brazil and China. In the second section we shall examine how US-China relations in the global system could affect both Brazil-US, and Brazil-China bilateral relations. A final section presents some recommendations for Brazil strategic orientations regarding the current systemic transition in the allotment of global power.

Nuclear material control in Brazil

International Nuclear Information System (INIS)

Marzo, M.A.S.; Iskin, M.C.L.; Palhares, L.C.; Almeida, S.G. de.

1988-01-01

A general view about the safeguards activities in Brazil is presented. The national system of accounting for and control of nuclear materials is described. The safeguards agreements signed by Brazil are presented, the facilities and nuclear material under these agreements are listed, and the dificulties on the pratical implementation are discussed. (E.G.) [pt

Brazil's Higher Education Responses to the Global Challenges of the 21st Century. Thinking Brazil. No. 23

Science.gov (United States)

Woodrow Wilson International Center for Scholars, 2006

2006-01-01

"Thinking Brazil" is an electronic publication of the Brazil Institute. This issue of "Thinking Brazil" highlights the research of Elizabeth Balbachevsky. On July 24, 2006, Elizabeth Balbachevsky, Woodrow Wilson Center Public Policy Scholar and Associate Professor of Political Science, Universidade de Sao Paulo, presented her research on the…

ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA

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D. Bahena-Bahena

2014-01-01

Full Text Available Patients with ARCL-IIA harbor mutations in ATP6V0A2 that codes for an organelle proton pump. The ARCL-IIA syndrome characteristically presents a combined glycosylation defect affecting N-linked and O-linked glycosylations, differentiating it from other cutis laxa syndromes and classifying it as a Congenital Disorder of Glycosylation (ATP6V0A2-CDG. We studied two Mexican Mestizo patients with a clinical phenotype corresponding to an ARCL-IIA syndrome. Both patients presented abnormal transferrin (N-linked glycosylation but Patient 1 had a normal ApoCIII (O-linked glycosylation profile. Mutational screening of ATP6V0A2 using cDNA and genomic DNA revealed in Patient 1 a previously reported homozygous nonsense mutation c.187C>T (p.R63X associated with a novel clinical finding of a VSD. In Patient 2 we found a homozygous c.2293C>T (p.Q765X mutation that had been previously reported but found that it also altered RNA processing generating a novel transcript not previously identified (r.2176_2293del; p.F726Sfs*10. This is the first report to describe Mestizo patients with molecular diagnosis of ARCL-IIA/ATP6V0A2-CDG and to establish that their mutations are the first to be found in patients from different regions of the world and with different genetic backgrounds.

Plant Mutation Reports, Vol. 2, No. 3, April 2011

Energy Technology Data Exchange (ETDEWEB)

NONE

2011-04-15

Enhancing crop yields, improving food quality and value in an environmentally friendly manner, and sustaining crop biodiversity continue to be key goals for improving agricultural production. Mutation induction techniques are undergoing a renaissance in crop improvement because of advancements in modern efficiency enhancing biotechnologies - irreplaceable tools in the tool box of the breeder. In the context of climate change and variability, mutation induction is a proven way to generate diversity in existing crop varieties, to widen the extent of adaptability and enhance productivity of crop biomass. We are encouraged by the contributions from our Member States to this journal. In many countries, we see that a broad variety of plant species and target traits are addressed using mutation induction. In this issue, the technical papers highlight studies on induced mutagenesis using either physical or chemical mutagens in a range of food and industrial crops. Dr Tulmann Neto gives an extensive review of 40 years of induced mutations in plant breeding in Brazil. A number of mutant derived varieties ranging from cereals, legumes, fruits and spices were developed together with commercial breeding companies and have significant economic value in Latin America. We trust that these reports will reignite a drive in experienced users of induced mutants in plant breeding and stir an interest in younger scientists

Plant Mutation Reports, Vol. 2, No. 3, April 2011

International Nuclear Information System (INIS)

2011-04-01

Enhancing crop yields, improving food quality and value in an environmentally friendly manner, and sustaining crop biodiversity continue to be key goals for improving agricultural production. Mutation induction techniques are undergoing a renaissance in crop improvement because of advancements in modern efficiency enhancing biotechnologies - irreplaceable tools in the tool box of the breeder. In the context of climate change and variability, mutation induction is a proven way to generate diversity in existing crop varieties, to widen the extent of adaptability and enhance productivity of crop biomass. We are encouraged by the contributions from our Member States to this journal. In many countries, we see that a broad variety of plant species and target traits are addressed using mutation induction. In this issue, the technical papers highlight studies on induced mutagenesis using either physical or chemical mutagens in a range of food and industrial crops. Dr Tulmann Neto gives an extensive review of 40 years of induced mutations in plant breeding in Brazil. A number of mutant derived varieties ranging from cereals, legumes, fruits and spices were developed together with commercial breeding companies and have significant economic value in Latin America. We trust that these reports will reignite a drive in experienced users of induced mutants in plant breeding and stir an interest in younger scientists

Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia

OpenAIRE

Rodriguez, David Enrique Aguilar; Lima, Carmen Silvia Passos; Lourenço, Gustavo Jacob; Figueiredo, Maria Estela; Carneiro, Jorge David Aivazoglu; Tone, Luiz Gonzaga; Llerena Jr., Juan Clinton; Toscano, Raquel Alves; Brandalise, Silvia; Pinto Júnior, Walter; Costa, Fernando Ferreira; Bertuzzo, Carmen Sílvia

2005-01-01

Fanconi anaemia (FA) is a recessive autosomal disease determined by mutations in genes of at least eleven complementation groups, with distinct distributions in different populations. As far as we know, there are no reports regarding the molecular characterisation of the disease in unselected FA patients in Brazil. OBECTIVE: This study aimed to investigate the most prevalent mutations of FANCA and FANCC genes in Brazilian patients with FA. METHODS: Genomic DNA obtained from 22 racially and et...

Effect of low dose gamma radiation on stamen-hairs of different clones of Tradescantia presenting variability in the frequency of spontaneous mutations

International Nuclear Information System (INIS)

Takahashi, C.S.

1976-01-01

Changes in the frequency of spontaneous somatic mutations were studied for three different clones of Tradescantia heterozygotes for flower and stamen-hair color keeping them under controlled or natural conditions in order to verify the effect of different environmental conditions on the different genotypes. The effect of inflorescence age on the variation of spontaneous mutations was studied choosing young and old inflorescences of a same plant. Low dose irradiation experiments were carried out with those clones to elucidate the radiation effects on the clones presenting changes in the frequency of spontaneous mutations. The chronic-and acute irradiation effects of low dose irradiation of the stamen-hair of Tradescantia were also studied. Results are discussed. (M.A.) [pt

A novel phenotype of a hepatocyte nuclear factor homeobox A (HNF1A) gene mutation, presenting with neonatal cholestasis

NARCIS (Netherlands)

de Vries, Aleida G. M.; Bakker-van Waarde, Willie M.; Dassel, Anne C. M.; Losekoot, Monique; Duiker, Evelien W.; Gouw, Annette S. H.; Bodewes, Frank A. J. A.

We report a novel phenotype of a hepatocyte nuclear factor homeobox A (HNF1A) mutation (heterozygote c.130dup, p.Leu44fs) presenting with transient neonatal cholestasis, subsequently followed by persistent elevation of transaminases, maturity-onset diabetes of the young (MODY) type 3 and

An Atypical HNF4A Mutation Which Does Not Conform to the Classic Presentation of HNF4A-MODY

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Andrew J. Spiro

2018-01-01

Full Text Available Objective. To present the case of an atypical Hepatocyte Nuclear Factor 4 Alpha (HNF4A mutation that is not consistent with the classically published presentation of HNF4A-Mature Onset Diabetes of the Young (MODY. Methods. Clinical presentation and literature review. Results. A 43-year-old nonobese man was referred to the endocrinology clinic for evaluation of elevated fasting blood glucose (FBG measurements. Laboratory review revealed prediabetes and hypertriglyceridemia for the previous decade. Testing of autoantibodies for type 1 diabetes was negative. Genetic testing showed an autosomal dominant, heterozygous missense mutation (c.991C>T; p.Arg331Cys in the HNF4A gene, which is correlated with HNF4A-MODY. Phenotypically, patients with an HNF4A-MODY tend to have early-onset diabetes, microvascular complications, low triglyceride levels, increased birth weight, fetal macrosomia, and less commonly neonatal hyperinsulinemic hypoglycemia. The patient did not demonstrate any of these features but instead presented with late-onset diabetes, an elevated triglyceride level, and a normal birth weight. Conclusion. Our patient likely represents an atypical variant of HNF4A-MODY with a milder clinical presentation. Patients with atypical, less-severe presentations of HNF4A-MODY may be largely undiagnosed or misdiagnosed, but identification is important due to implications for treatment, pregnancy, and screening of family members.

Visceral leishmaniasis in Brazil

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Mary Marcondes

2013-10-01

Full Text Available Visceral leishmaniasis (VL is among the most important vector-borne diseases that occur in Brazil, mainly due to its zoonotic nature. It is currently present in almost all Brazilian territory, and its control is a challenge both for veterinarians and for public health officials. The etiologic agent is Leishmania infantum (syn chagasi, and the main vector in Brazil is Lutzomyia longipalpis. Of all animals identified as reservoirs of VL, the dog is considered the most important domestic reservoir. Although the disease has already been identified in cats, the epidemiological role of this animal species is still unclear. This article presents a brief review of the epidemiological situation of the disease, its mode of transmission, clinical features in dogs and cats as well as possible risk factors associated with the occurrence of the disease in Brazil.

Common variable immune deficiency with mutated TNFSRF13B gene presenting with autoimmune hematologic manifestations

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Elpis Mantadakis

2016-10-01

Full Text Available Patients with common variable immunodeficiency (CVID develop autoimmune hematologic manifestations. We report a 14-year-old boy with Evans syndrome, who presented at the age of 11.5 years with autoimmune hemolysis and was successfully managed with corticosteroids. Initially, the serum immunoglobulins were within the low-normal range for age, but two years after presentation he definitely fulfilled the diagnostic criteria for CVID, despite a negative history for serious infections. DNA sequencing by PCR of the TNFSRF13B gene that encodes the TACI receptor disclosed the heterozygous mutation C104R that is found in approximately 10–15% of patients with CVID. Common variable immunodeficiency should be considered in the differential diagnosis of autoimmune hematologic manifestations, since its timely diagnosis may considerably affect clinical management and patient outcome.

A diagnostic dilemma following risk-reducing surgery for BRCA1 mutation – a case report of primary papillary serous carcinoma presenting as sigmoid cancer

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Nash Guy F

2007-09-01

Full Text Available Abstract Background Women that carry germ-line mutations for BRCA1 or BRCA2 genes are at an increased risk of developing breast, ovarian and peritoneal cancer. Primary peritoneal carcinoma is a rare tumour histologically identical to papillary serous ovarian carcinoma. Risk-reducing surgery in the form of mastectomy and oophorectomy in premenopausal women has been recommended to prevent breast and ovarian cancer occurrence and decrease the risk of developing primary peritoneal cancer. Case presentation We present a case report of a woman with a strong family history of breast cancer who underwent risk-reducing surgery in the form of bilateral salpingo-oophorectomy following a mastectomy for a right-sided breast tumour. Following the finding of a BRCA1 mutation, a prophylactic left-sided mastectomy was performed. After remaining well for twenty-seven years, she presented with rectal bleeding and altered bowel habit, and was found to have a secondary cancer of the sigmoid colon. She was finally diagnosed with primary papillary serous carcinoma of the peritoneum (PSCP. Conclusion PSCP can present many years after risk-reducing surgery and be difficult to detect. Surveillance remains the best course of management for patients with known BRCA mutations.

A genetic cluster of patients with variant xeroderma pigmentosum with two different founder mutations.

Science.gov (United States)

Munford, V; Castro, L P; Souto, R; Lerner, L K; Vilar, J B; Quayle, C; Asif, H; Schuch, A P; de Souza, T A; Ienne, S; Alves, F I A; Moura, L M S; Galante, P A F; Camargo, A A; Liboredo, R; Pena, S D J; Sarasin, A; Chaibub, S C; Menck, C F M

2017-05-01

Xeroderma pigmentosum (XP) is a rare human syndrome associated with hypersensitivity to sunlight and a high frequency of skin tumours at an early age. We identified a community in the state of Goias (central Brazil), a sunny and tropical region, with a high incidence of XP (17 patients among approximately 1000 inhabitants). To identify gene mutations in the affected community and map the distribution of the affected alleles, correlating the mutations with clinical phenotypes. Functional analyses of DNA repair capacity and cell-cycle responses after ultraviolet exposure were investigated in cells from local patients with XP, allowing the identification of the mutated gene, which was then sequenced to locate the mutations. A specific assay was designed for mapping the distribution of these mutations in the community. Skin primary fibroblasts showed normal DNA damage removal but abnormal DNA synthesis after ultraviolet irradiation and deficient expression of the Polη protein, which is encoded by POLH. We detected two different POLH mutations: one at the splice donor site of intron 6 (c.764 +1 G>A), and the other in exon 8 (c.907 C>T, p.Arg303X). The mutation at intron 6 is novel, whereas the mutation at exon 8 has been previously described in Europe. Thus, these mutations were likely brought to the community long ago, suggesting two founder effects for this rare disease. This work describes a genetic cluster involving POLH, and, particularly unexpected, with two independent founder mutations, including one that likely originated in Europe. © 2016 British Association of Dermatologists.

Spectrum of mutations in RARS-T patients includes TET2 and ASXL1 mutations.

Science.gov (United States)

Szpurka, Hadrian; Jankowska, Anna M; Makishima, Hideki; Bodo, Juraj; Bejanyan, Nelli; Hsi, Eric D; Sekeres, Mikkael A; Maciejewski, Jaroslaw P

2010-08-01

While a majority of patients with refractory anemia with ring sideroblasts and thrombocytosis harbor JAK2V617F and rarely MPLW515L, JAK2/MPL-negative cases constitute a diagnostic problem. 23 RARS-T cases were investigated applying immunohistochemical phospho-STAT5, sequencing and SNP-A-based karyotyping. Based on the association of TET2/ASXL1 mutations with MDS/MPN we studied molecular pattern of these genes. Two patients harbored ASXL1 and another 2 TET2 mutations. Phospho-STAT5 activation was present in one mutated TET2 and ASXL1 case. JAK2V617F/MPLW515L mutations were absent in TET2/ASXL1 mutants, indicating that similar clinical phenotype can be produced by various MPN-associated mutations and that additional unifying lesions may be present in RARS-T. Copyright (c) 2010 Elsevier Ltd. All rights reserved.

''In vivo'' methodology for mutation induction in banana, cultivar ''Maca''

International Nuclear Information System (INIS)

Tulmann Neto, A.; Domingues, E.T.; Alvarez, A.L.F.; Mendez, B.M.J.; Ando, A.

1990-01-01

Full text: The ''Maca'' cultivar is a banana of high acceptability in the south west of Brazil. However, it is very susceptible to several diseases. Due to the difficulties in the application of the traditional plant breeding methods, the Radiation Genetics Section of CENA is utilising the ''in vivo'', and the ''in vitro'' mutation breeding approach. The ''in vivo'' methodology is based on the work of HAMILTON. This method is being utilised in Brazil for rapid banana propagation. Rhizomes (20 cm diameter) were obtained from young field grown plants before flower differentiation. In these rhizomes, only 5-6 leaf sheaths were retained, the others being removed. The rhizomes were maintained in a greenhouse in boxes with vermiculite, covered with plastic. After one week, all leaf sheaths were removed, until the exposure of the meristematic apex with about 2 mm size. This apex was cut off with a scalpel and a cross shaped cut (2,5 cm) was made. This stimulates the development of lateral buds. After four months, the meristematic apices of these new buds were cut off in the same way and immediately the rhizomes were irradiated with gamma rays. Around the eliminated lateral buds callus developed and new lateral buds were formed. The LD 50 in relation to the number of these new buds produced was around 30 Gy. According to the author of the original method, from the callus one can obtain axillary or adventitious buds. In the early stages it is possible, based on the shape, to distinguish both types. The advantage of utilising adventitious buds originating from only one cell to avoid chimerism is well known in mutation breeding. However, it is not certain whether this is the case in the present method. After detachment from rhizomes and rooting in soil, plants with 15-20 cm height were inoculated with Fusarium oxysporum f.sp. cubense. After 3 weeks the plants showed symptoms of the Panama disease and screening could be done at this stage. The total time between the removal of

''In vivo'' methodology for mutation induction in banana, cultivar ''Maca''

Energy Technology Data Exchange (ETDEWEB)

Tulmann Neto, A; Domingues, E T; Alvarez, A L.F.; Mendez, B M.J.; Ando, A [Centre for Nuclear Energy in Agriculture (CENA), University of Sao Paulo, Piracicaba, SP. (Brazil)

1990-07-01

Full text: The ''Maca'' cultivar is a banana of high acceptability in the south west of Brazil. However, it is very susceptible to several diseases. Due to the difficulties in the application of the traditional plant breeding methods, the Radiation Genetics Section of CENA is utilising the ''in vivo'', and the ''in vitro'' mutation breeding approach. The ''in vivo'' methodology is based on the work of HAMILTON. This method is being utilised in Brazil for rapid banana propagation. Rhizomes (20 cm diameter) were obtained from young field grown plants before flower differentiation. In these rhizomes, only 5-6 leaf sheaths were retained, the others being removed. The rhizomes were maintained in a greenhouse in boxes with vermiculite, covered with plastic. After one week, all leaf sheaths were removed, until the exposure of the meristematic apex with about 2 mm size. This apex was cut off with a scalpel and a cross shaped cut (2,5 cm) was made. This stimulates the development of lateral buds. After four months, the meristematic apices of these new buds were cut off in the same way and immediately the rhizomes were irradiated with gamma rays. Around the eliminated lateral buds callus developed and new lateral buds were formed. The LD{sub 50} in relation to the number of these new buds produced was around 30 Gy. According to the author of the original method, from the callus one can obtain axillary or adventitious buds. In the early stages it is possible, based on the shape, to distinguish both types. The advantage of utilising adventitious buds originating from only one cell to avoid chimerism is well known in mutation breeding. However, it is not certain whether this is the case in the present method. After detachment from rhizomes and rooting in soil, plants with 15-20 cm height were inoculated with Fusarium oxysporum f.sp. cubense. After 3 weeks the plants showed symptoms of the Panama disease and screening could be done at this stage. The total time between the

The situation of nuclear research in Brazil

International Nuclear Information System (INIS)

Alves, R.N.

1989-04-01

In order to understand the nuclear research situation in Brazil, one must examine the historical facts and their political, economical and social dimensions. In the first part of this work, the international aspects of the nuclear area and the corresponding measures adopted in Brazil are examined. The reasons that caused the country to adopt the current development model are presented. A proposal that will permit Brazil to develop and use nuclear energy in the way it wants and not as it might be imposed is presented. 4 tabs

Diabetes Is Associated with Worse Clinical Presentation in Tuberculosis Patients from Brazil: A Retrospective Cohort Study.

Directory of Open Access Journals (Sweden)

Leonardo Gil-Santana

Full Text Available The rising prevalence of diabetes mellitus (DM worldwide, especially in developing countries, and the persistence of tuberculosis (TB as a major public health issue in these same regions, emphasize the importance of investigating this association. Here, we compared the clinical profile and disease outcomes of TB patients with or without coincident DM in a TB reference center in Brazil.We performed a retrospective analysis of a TB patient cohort (treatment naïve of 408 individuals recruited at a TB primary care center in Brazil between 2004 and 2010. Data on diagnosis of TB and DM were used to define the groups. The study groups were compared with regard to TB disease presentation at diagnosis as well as to clinical outcomes such as cure and mortality rates upon anti-tuberculosis therapy (ATT initiation. A composite score utilizing clinical, radiological and microbiological parameters was used to compare TB severity between the groups.DM patients were older than non-diabetic TB patients. In addition, diabetic individuals more frequently presented with cough, night sweats, hemoptysis and malaise than those without DM. The overall pattern of lung lesions assessed by chest radiographic examination was similar between the groups. Compared to non-diabetic patients, those with TB-diabetes exhibited positive acid-fast bacilli in sputum samples more frequently at diagnosis and at 30 days after ATT initiation. Notably, higher values of the TB severity score were significantly associated with TB-diabetes comorbidity after adjustment for confounding factors. Moreover, during ATT, diabetic patients required more frequent transfers to TB reference hospitals for complex clinical management. Nevertheless, overall mortality and cure rates were indistinguishable between the study groups.These findings reinforce the idea that diabetes negatively impacts pulmonary TB severity. Our study argues for the systematic screening for DM in TB reference centers in endemic

Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations.

Science.gov (United States)

Setia, Nitika; Saxena, Renu; Arora, Anjali; Verma, Ishwar C

2016-12-01

Homozygous familial hypercholesterolemia (FH) is a rare but serious, inherited disorder of lipid metabolism characterized by very high total and LDL cholesterol levels from birth. It presents as cutaneous and tendon xanthomas since childhood, with or without cardiac involvement. FH is commonly caused by mutations in three genes, i.e. LDL receptor (LDLR), apolipoprotein B (ApoB) and PCSK9. We aimed to determine the spectrum of mutations in cases of homozygous FH in Asian Indians and evaluate if there was any similarity to the mutations observed in Caucasians. Sixteen homozygous FH subjects from eleven families were analyzed for mutations by Sanger sequencing. Large rearrangements in LDLR gene were evaluated by multiplex ligation probe dependent amplification (MLPA) technique. Ten mutations were observed in LDLR gene, of which four mutations were novel. No mutation was detected in ApoB gene and common PCSK9 mutation (p.D374Y). Fourteen cases had homozygous mutations; one had compound heterozygous mutation, while no mutation was detected in one clinically homozygous case. We report an interesting "Triple hit" case with features of homozygous FH. The spectrum of mutations in the Asian Indian population is quite heterogeneous. Of the mutations identified, 40% were novel. No mutation was observed in exons 3, 9 and 14 of LDLR gene, which are considered to be hot spots in studies done on Asian Indians in South Africa. Early detection followed by aggressive therapy, and cascade screening of extended families has been initiated to reduce the morbidity and mortality in these patients. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Variability and resistance mutations in the hepatitis C virus NS3 protease in patients not treated with protease inhibitors

Directory of Open Access Journals (Sweden)

Luciana Bonome Zeminian

2013-02-01

Full Text Available The goal of treatment of chronic hepatitis C is to achieve a sustained virological response, which is defined as exhibiting undetectable hepatitis C virus (HCV RNA levels in serum following therapy for at least six months. However, the current treatment is only effective in 50% of patients infected with HCV genotype 1, the most prevalent genotype in Brazil. Inhibitors of the serine protease non-structural protein 3 (NS3 have therefore been developed to improve the responses of HCV-infected patients. However, the emergence of drug-resistant variants has been the major obstacle to therapeutic success. The goal of this study was to evaluate the presence of resistance mutations and genetic polymorphisms in the NS3 genomic region of HCV from 37 patients infected with HCV genotype 1 had not been treated with protease inhibitors. Plasma viral RNA was used to amplify and sequence the HCV NS3 gene. The results indicate that the catalytic triad is conserved. A large number of substitutions were observed in codons 153, 40 and 91; the resistant variants T54A, T54S, V55A, R155K and A156T were also detected. This study shows that resistance mutations and genetic polymorphisms are present in the NS3 region of HCV in patients who have not been treated with protease inhibitors, data that are important in determining the efficiency of this new class of drugs in Brazil.

HFE gene mutations and iron status of Brazilian blood donors.

Science.gov (United States)

Santos, P C J L; Cançado, R D; Terada, C T; Rostelato, S; Gonzales, I; Hirata, R D C; Hirata, M H; Chiattone, C S; Guerra-Shinohara, E M

2010-01-01

Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and TFR2 mutations were assessed in blood donors, and the relationship with iron status was evaluated. Subjects (N = 542) were recruited at the Hemocentro da Santa Casa de São Paulo, São Paulo, Brazil. Iron status was not influenced by HFE mutations in women and was independent of blood donation frequency. In contrast, men carrying the HFE 282CY genotype had lower total iron-binding capacity (TIBC) than HFE 282CC genotype carriers. Men who donated blood for the first time and were carriers of the HFE 282CY genotype had higher transferrin saturation values and lower TIBC concentrations than those with the homozygous wild genotype for the HFE C282Y mutation. Moreover, in this group of blood donors, carriers of HFE 63DD plus 63HD genotypes had higher serum ferritin values than those with the homozygous wild genotype for HFE H63D mutation. Multiple linear regression analysis showed that HFE 282CY leads to a 17.21% increase (P = 0.018) and a 83.65% decrease (P = 0.007) in transferrin saturation and TIBC, respectively. In addition, serum ferritin is influenced by age (3.91%, P = 0.001) and the HFE 63HD plus DD genotype (55.84%, P = 0.021). In conclusion, the HFE 282Y and 65C alleles were rare, while the HFE 63D allele was frequent in Brazilian blood donors. The HFE C282Y and H63D mutations were associated with alterations in iron status in blood donors in a gender-dependent manner.

HFE gene mutations and iron status of Brazilian blood donors

Directory of Open Access Journals (Sweden)

P.C.J.L. Santos

2010-01-01

Full Text Available Mutations of the HFE and TFR2 genes have been associated with iron overload. HFE and TFR2 mutations were assessed in blood donors, and the relationship with iron status was evaluated. Subjects (N = 542 were recruited at the Hemocentro da Santa Casa de São Paulo, São Paulo, Brazil. Iron status was not influenced by HFE mutations in women and was independent of blood donation frequency. In contrast, men carrying the HFE 282CY genotype had lower total iron-binding capacity (TIBC than HFE 282CC genotype carriers. Men who donated blood for the first time and were carriers of the HFE 282CY genotype had higher transferrin saturation values and lower TIBC concentrations than those with the homozygous wild genotype for the HFE C282Y mutation. Moreover, in this group of blood donors, carriers of HFE 63DD plus 63HD genotypes had higher serum ferritin values than those with the homozygous wild genotype for HFE H63D mutation. Multiple linear regression analysis showed that HFE 282CY leads to a 17.21% increase (P = 0.018 and a 83.65% decrease (P = 0.007 in transferrin saturation and TIBC, respectively. In addition, serum ferritin is influenced by age (3.91%, P = 0.001 and the HFE 63HD plus DD genotype (55.84%, P = 0.021. In conclusion, the HFE 282Y and 65C alleles were rare, while the HFE 63D allele was frequent in Brazilian blood donors. The HFE C282Y and H63D mutations were associated with alterations in iron status in blood donors in a gender-dependent manner.

A multinodular goiter as the initial presentation of a renal cell carcinoma harbouring a novel VHL mutation

Directory of Open Access Journals (Sweden)

Silva Eduardo

2006-10-01

Full Text Available Abstract Background Secondary involvement of the thyroid gland is rare. Often the origin of the tumor is difficult to identify from the material obtained by fine-needle aspiration cytology. Renal cell carcinoma of the clear-cell type is one of the more common carcinomas to metastasize to the thyroid gland. Somatic mutations of the von Hippel-Lindau tumor suppressor gene are associated with the sporadic form of this tumor. We aimed to illustrate the potential utility of DNA based technologies to search for specific molecular markers in order to establish the anatomic site of origin. Case Presentation A 54-yr-old Caucasian male complaining of a rapidly increasing neck tumor was diagnosed as having a clear-cell tumor by fine-needle aspiration cytology. A positive staining for cytokeratin as well as for vimentin and CD10 in the absence of staining for thyroglobulin, calcitonin and TTF1 suggested a renal origin confirmed by computed tomography. Using frozen RNA, obtained from cells left inside the needle used for fine needle aspiration cytology, it was possible to identify a somatic mutation (680 delA in the VHL gene. Conclusion In the presence of a clear-cell tumor of the thyroid gland, screening for somatic mutations in the VHL gene in material derived from thyroid aspirates might provide additional information to immunocytochemical studies and therefore plays a contributory role to establish the final diagnosis. Moreover, in a near future, this piece of information might be useful to define a targeted therapy.

An overview on small hydro in Brazil

International Nuclear Information System (INIS)

Filho, G.T.

2008-01-01

An overview of small-scale hydro development in Brazil was presented in the context of the Brazilian energy sector. Brazil's energy sector is currently comprised of 45 per cent renewable energy. Brazil is the tenth largest energy producer in the world, with an installed capacity of 105.986 MW. Brazil currently has an estimated 258.410 MW of hydroelectric power potential. Small hydropower (SHP) plants in Brazil are defined as plants capable of producing up to 30 MW of power, with a reservoir area smaller than 12 km 2 . It is estimated that SHP plants will provide 5 per cent of Brazil's electrical supply by 2030. SHP plants in Brazil typically use Kaplan and Pelton hydraulic turbines, as well as Michell-Banki cross-flow turbines. Hydrokinetic turbine prototypes are also being designed at the Federal University of Brazil. Researchers are currently developing a diffuser enhancement design. However, there are currently no designs available that use peripheric generators. Researchers are currently investigating the design of fish-friendly turbines as well as mobile dams. Development projects in the Amazon region were outlined. tabs., figs.

The scaly tree ferns (Cyatheaceae-Polypodiopsida) of Brazil

OpenAIRE

Weigand, Anna; Lehnert, Marcus

2016-01-01

ABSTRACT A synopsis of all scaly tree fern species (Cyatheaceae) occurring in Brazil is presented. We recognize 51 species in three genera [Sphaeropteris one species, Alsophila four species (one subspecies, two varieties), and Cyathea 45 species (one variety) ] with 17 taxa being endemic to Brazil. One hybrid endemic to Brazil is recognized. Further included are five species that have not yet been recorded in Brazil, but are expected here because they are found in adjacent countries and occur...

Lycopodiaceae in Brazil. Conspectus of the family

DEFF Research Database (Denmark)

Øllgaard, Benjamin; Windisch, Paulo G.

2014-01-01

A conspectus of the Lycopodiaceae in Brazil is presented, following a generic classification based on anatomy, chromosome numbers, spores and gametophytes, as well as recent molecular studies. The species of Lycopodiaceae occurring in Brazil, traditionally treated conservatively, were grouped...

Danish wind power in Brazil. Part 1. The future of wind power in Brazil - market analysis

Energy Technology Data Exchange (ETDEWEB)

Husted Rich, N

1996-04-01

More than 95% of total energy produced in Brazil comes from highly efficient hydroelectric power plants but, faced with a serious shortage of energy after the year 2000, the country is now considering wind energy as one of the basic alternatives for energy supply. It is suggested that biomass, wind energy and biogas may be included in a future supply policy for the north-east region of the land. The structure of, the privatisation, legislation and the tariff system within the Brazilian power sector are described in addition to the present situation regarding wind energy in the country, including current and coming projects in this field, the excellent wind conditions in Northeastern Brazil and investment possibilities. The political activities in this field of the Danish Folkecenter for Renewable Energy are noted and future developments in Brazil are discussed. It is concluded that there are good prospects for Danish windmill technology on the Brazilian market. Wind measurement programs are presently being carried out in various areas of the country, though a number of impediments to the development of wind energy in Brazil remain. (AB)

Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy

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Shi-Bing Wang

2008-08-01

Full Text Available Mutation of mitochondrial DNA (mtDNA G13513A, encoding the ND5 subunit of respiratory chain complex I, can cause mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS and Leigh syndrome. Wolff-Parkinson-White (WPW syndrome and optic atrophy were reported in a high proportion of patients with this mutation. We report an 18-month-old girl, with an 11-month history of psychomotor regression who was diagnosed with WPW syndrome and hypertrophic cardiomyopathy, in association with Leigh syndrome. Supplementation with coenzyme Q10, thiamine and carnitine prevented further regression in gross motor function but the patient's heart function deteriorated and dilated cardiomyopathy developed 11 months later. She was found to have a mutation of mtDNA G13513A. We suggest that mtDNA G13513A mutation is an important factor in patients with Leigh syndrome associated with WPW syndrome and/or optic atrophy, and serial heart function monitoring by echocardiography is recommended in this group of patients.

Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.

Science.gov (United States)

Bittencourt, Paulo Lisboa; Marin, Maria Lúcia Carnevale; Couto, Cláudia Alves; Cançado, Eduardo Luiz Rachid; Carrilho, Flair José; Goldberg, Anna Carla

2009-01-01

Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians. Other mutations have been described in the HFE gene as well as in genes involved in iron metabolism, such as transferrin receptor 2 (TfR2) and ferroportin 1 (SCL40A1). To evaluate the role of HFE, TfR2 and SCL40A1 mutations in Brazilian subjects with HH. Nineteen male subjects (median age 42 [range: 20-72] years) with HH were evaluated using the Haemochromatosis StripAssay A. This assay is capable of detecting twelve HFE mutations, which are V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y and Q283, four TfR2 mutations, which are E60X, M172K, Y250X, AVAQ594-597del, and two SCL40A1 mutations, which are N144H and V162del. In our cohort, nine (47%) patients were homozygous for the C282Y mutation, two (11%) were heterozygous for the H63D mutation, and one each (5%) was either heterozygous for C282Y or compound heterozygous for C282Y and H63D. No other mutations in the HFE, TfR2 or SCL40A1 genes were observed in the studied patients. One-third of Brazilian subjects with the classical phenotype of HH do not carry HFE or other mutations that are currently associated with the disease in Caucasians. This observation suggests a role for other yet unknown mutations in the aforementioned genes or in other genes involved in iron homeostasis in the pathogenesis of HH in Brazil.

Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis

Directory of Open Access Journals (Sweden)

Paulo Lisboa Bittencourt

2009-01-01

Full Text Available BACKGROUND: Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians. Other mutations have been described in the HFE gene as well as in genes involved in iron metabolism, such as transferrin receptor 2 (TfR2 and ferroportin 1 (SCL40A1. AIMS: To evaluate the role of HFE, TfR2 and SCL40A1 mutations in Brazilian subjects with HH. PATIENTS AND METHODS: Nineteen male subjects (median age 42 [range: 20-72] years with HH were evaluated using the Haemochromatosis StripAssay A®. This assay is capable of detecting twelve HFE mutations, which are V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y and Q283, four TfR2 mutations, which are E60X, M172K, Y250X, AVAQ594-597del, and two SCL40A1 mutations, which are N144H and V162del. RESULTS: In our cohort, nine (47% patients were homozygous for the C282Y mutation, two (11% were heterozygous for the H63D mutation, and one each (5% was either heterozygous for C282Y or compound heterozygous for C282Y and H63D. No other mutations in the HFE, TfR2 or SCL40A1 genes were observed in the studied patients. CONCLUSIONS: One-third of Brazilian subjects with the classical phenotype of HH do not carry HFE or other mutations that are currently associated with the disease in Caucasians. This observation suggests a role for other yet unknown mutations in the aforementioned genes or in other genes involved in iron homeostasis in the pathogenesis of HH in Brazil.

Pyrethroid resistance in Sitophilus zeamais is associated with a mutation (T929I) in the voltage-gated sodium channel.

Science.gov (United States)

Araújo, Rúbia A; Williamson, Martin S; Bass, Christopher; Field, Linda M; Duce, Ian R

2011-08-01

The maize weevil, Sitophilus zeamais, is the most important pest affecting stored grain in Brazil and its control relies heavily on the use of insecticides. The intensive use of compounds such as the pyrethroids has led to the emergence of resistance, and previous studies have suggested that resistance to both pyrethroids and 1,1,1-trichloro-2,2-bis(p-chlorophenyl)ethane (DDT) may result from reduced sensitivity of the insecticide target, the voltage-gated sodium channel. To identify the molecular mechanisms underlying pyrethroid resistance in S. zeamais, the domain II region of the voltage-gated sodium channel (para-orthologue) gene was amplified by PCR and sequenced from susceptible and resistant laboratory S. zeamais strains that were selected with a discriminating dose of DDT. A single point mutation, T929I, was found in the para gene of the resistant S. zeamais populations and its presence in individual weevils was strongly associated with survival after DDT exposure. This is the first identification of a target-site resistance mutation in S. zeamais and unusually it is a super-kdr type mutation occurring in the absence of the more common kdr (L1014F) substitution. A high-throughput assay based on TaqMan single nucleotide polymorphism genotyping was developed for sensitive detection of the mutation and used to screen field-collected strains of S. zeamais. This showed that the mutation is present at low frequency in field populations and is a useful tool for informing control strategies. © 2011 The Authors. Insect Molecular Biology © 2011 The Royal Entomological Society.

Sweet future? Brazil's ethanol fuel programme

International Nuclear Information System (INIS)

Calle, F.R.

1999-01-01

This article traces the history of Brazil's ethanol fuel programme from 1975 to the present, and considers Brazil's energy policy, and the implications of price liberalisation and privatisation aimed at reducing prices to control inflation. The achievements of ProAlcool which was established in 1975 with the aim of replacing petrol with ethanol, costs and investment in ProAlcool, environmental implications, and policy initiatives to boost ProAlcool are examined. Details of typical emissions from a 6-year old car in Brazil are tabulated illustrating the reduced emissions due to ethanol fuels

Rural Sociology in Brazil: Institutional Growth (1965-1977).

Science.gov (United States)

Hansen, David O.; And Others

Growth and present status of graduate programs, major research interests, and potential for US-Brazilian collaboration indicate the present state of rural sociology in Brazil. In contrast to US rural sociology's identity crisis of the past decade, the field in Brazil has blossomed. Graduate programs are underway at universities of Rio Grande do…

An overview on small hydro in Brazil

Energy Technology Data Exchange (ETDEWEB)

Filho, G.T. [Federal Univ. of Itajuba (Brazil). National Reference Centre for Small Hydro

2008-07-01

An overview of small-scale hydro development in Brazil was presented in the context of the Brazilian energy sector. Brazil's energy sector is currently comprised of 45 per cent renewable energy. Brazil is the tenth largest energy producer in the world, with an installed capacity of 105.986 MW. Brazil currently has an estimated 258.410 MW of hydroelectric power potential. Small hydropower (SHP) plants in Brazil are defined as plants capable of producing up to 30 MW of power, with a reservoir area smaller than 12 km{sup 2}. It is estimated that SHP plants will provide 5 per cent of Brazil's electrical supply by 2030. SHP plants in Brazil typically use Kaplan and Pelton hydraulic turbines, as well as Michell-Banki cross-flow turbines. Hydrokinetic turbine prototypes are also being designed at the Federal University of Brazil. Researchers are currently developing a diffuser enhancement design. However, there are currently no designs available that use peripheric generators. Researchers are currently investigating the design of fish-friendly turbines as well as mobile dams. Development projects in the Amazon region were outlined. tabs., figs.

Mutations induced in plant breeding

International Nuclear Information System (INIS)

Barriga B, P.

1984-01-01

The most significant aspects of the use of ionizing radiations in plant breeding are reviewed. Aspects such as basic principles of mutation, expression and selection in obtention of mutants, methods for using induced mutations and sucess achieved with this methodology in plant breeding are reviewed. Results obtained in a program of induced mutation on wheat for high content of protein and lysine at the Universidad Austral de Chile are presented. (Author)

Mutations induced in plant breeding

Energy Technology Data Exchange (ETDEWEB)

Barriga B, P. (Universidad Austral de Chile, Valdivia. Inst. de Produccion y Sanidad Vegetal)

1984-10-01

The most significant aspects of the use of ionizing radiations in plant breeding are reviewed. Aspects such as basic principles of mutation, expression and selection in obtention of mutants, methods for using induced mutations and sucess achieved with this methodology in plant breeding are reviewed. Results obtained in a program of induced mutation on wheat for high content of protein and lysine at the Universidad Austral de Chile are presented.

Preleukemic and second-hit mutational events in an acute myeloid leukemia patient with a novel germline RUNX1 mutation.

Science.gov (United States)

Ng, Isaac Ks; Lee, Joanne; Ng, Christopher; Kosmo, Bustamin; Chiu, Lily; Seah, Elaine; Mok, Michelle Meng Huang; Tan, Karen; Osato, Motomi; Chng, Wee-Joo; Yan, Benedict; Tan, Lip Kun

2018-01-01

Germline mutations in the RUNX1 transcription factor give rise to a rare autosomal dominant genetic condition classified under the entity: Familial Platelet Disorders with predisposition to Acute Myeloid Leukaemia (FPD/AML). While several studies have identified a myriad of germline RUNX1 mutations implicated in this disorder, second-hit mutational events are necessary for patients with hereditary thrombocytopenia to develop full-blown AML. The molecular picture behind this process remains unclear. We describe a patient of Malay descent with an unreported 7-bp germline RUNX1 frameshift deletion, who developed second-hit mutations that could have brought about the leukaemic transformation from a pre-leukaemic state. These mutations were charted through the course of the treatment and stem cell transplant, showing a clear correlation between her clinical presentation and the mutations present. The patient was a 27-year-old Malay woman who presented with AML on the background of hereditary thrombocytopenia affecting her father and 3 brothers. Initial molecular testing revealed the same novel RUNX1 mutation in all 5 individuals. The patient received standard induction, consolidation chemotherapy, and a haploidentical stem cell transplant from her mother with normal RUNX1 profile. Comprehensive genomic analyses were performed at diagnosis, post-chemotherapy and post-transplant. A total of 8 mutations ( RUNX1 , GATA2 , DNMT3A , BCORL1 , BCOR , 2 PHF6 and CDKN2A ) were identified in the pre-induction sample, of which 5 remained ( RUNX1 , DNMT3A , BCORL1 , BCOR and 1 out of 2 PHF6 ) in the post-treatment sample and none were present post-transplant. In brief, the 3 mutations which were lost along with the leukemic cells at complete morphological remission were most likely acquired leukemic driver mutations that were responsible for the AML transformation from a pre-leukemic germline RUNX1 -mutated state. On the contrary, the 5 mutations that persisted post

NRASQ61K mutated primary leptomeningeal melanoma in a child: case presentation and discussion on clinical and diagnostic implications

International Nuclear Information System (INIS)

Angelino, Giulia; De Pasquale, Maria Debora; De Sio, Luigi; Serra, Annalisa; Massimi, Luca; De Vito, Rita; Marrazzo, Antonio; Lancella, Laura; Carai, Andrea; Antonelli, Manila; Giangaspero, Felice; Gessi, Marco; Menchini, Laura; Scarciolla, Laura; Longo, Daniela; Mastronuzzi, Angela

2016-01-01

Primary melanocytic neoplasms are rare in the pediatric age. Among them, the pattern of neoplastic meningitis represents a peculiar diagnostic challenge since neuroradiological features may be subtle and cerebrospinal fluid analysis may not be informative. Clinical misdiagnosis of neoplastic meningitis with tuberculous meningitis has been described in few pediatric cases, leading to a significant delay in appropriate management of patients. We describe the case of a child with primary leptomeningeal melanoma (LMM) that was initially misdiagnosed with tuberculous meningitis. We review the clinical and molecular aspects of LMM and discuss on clinical and diagnostic implications. A 27-month-old girl with a 1-week history of vomiting with mild intermittent strabismus underwent Magnetic Resonance Imaging, showing diffuse brainstem and spinal leptomeningeal enhancement. Cerebrospinal fluid analysis was unremarkable. Antitubercular treatment was started without any improvement. A spinal intradural biopsy was suggestive for primary leptomeningeal melanomatosis. Chemotherapy was started, but general clinical conditions progressively worsened and patient died 11 months after diagnosis. Molecular investigations were performed post-mortem on tumor tissue and revealed absence of BRAF V600E , GNAQ Q209 and GNA11 Q209 mutations but the presence of a NRAS Q61K mutation. Our case adds some information to the limited experience of the literature, confirming the presence of the NRAS Q61K mutation in children with melanomatosis. To our knowledge, this is the first case of leptomeningeal melanocytic neoplasms (LMN) without associated skin lesions to harbor this mutation. Isolated LMN presentation might be insidious, mimicking tuberculous meningitis, and should be suspected if no definite diagnosis is possible or if antitubercular treatment does not result in dramatic clinical improvement. Leptomeningeal biopsy should be considered, not only to confirm diagnosis of LMN but also to study

Mutation update for the PORCN gene

DEFF Research Database (Denmark)

Lombardi, Maria Paola; Bulk, Saskia; Celli, Jacopo

2011-01-01

Mutations in the PORCN gene were first identified in Goltz-Gorlin syndrome patients in 2007. Since then, several reports have been published describing a large variety of genetic defects resulting in the Goltz-Gorlin syndrome, and mutations or deletions were also reported in angioma serpiginosum......, the pentalogy of Cantrell and Limb-Body Wall Complex. Here we present a review of the published mutations in the PORCN gene to date and report on seven new mutations together with the corresponding clinical data. Based on the review we have created a Web-based locus-specific database that lists all identified...... variants and allows the inclusion of future reports. The database is based on the Leiden Open (source) Variation Database (LOVD) software, and is accessible online at http://www.lovd.nl/porcn. At present, the database contains 106 variants, representing 68 different mutations, scattered along the whole...

Emergence of methicillin-resistant coagulase-negative staphylococci resistant to linezolid with rRNA gene C2190T and G2603T mutations.

Science.gov (United States)

Cidral, Thiago André; Carvalho, Maria Cícera; Figueiredo, Agnes Marie Sá; de Melo, Maria Celeste Nunes

2015-10-01

The aim of this article were to determinate the mechanism of linezolid resistance in coagulase-negative methicillin-resistant staphylococci from hospitals in the northeast of Brazil. We identified the isolates using VITEK(®) 2 and MALDI-TOF. Susceptibility to antibiotics was measured by the disk-diffusion method and by Etest(®) . Extraction of the whole genome DNA was performed, followed by screening of all the strains for the presence of mecA and cfr genes. The domain V region of 23S rRNA gene was sequenced and then aligned with a linezolid-susceptible reference strain. Pulsed-field gel electrophoresis (PFGE) macro-restriction analysis was performed. Three linezolid-resistant Staphylococcus hominis and two linezolid-resistant Staphylococcus epidermidis strains were analyzed. The isolates showed two point mutations in the V region of the 23S rRNA gene (C2190T and G2603T). We did not detect the cfr gene in any isolate by PCR. The S. hominis showed the same pulsotype, while the S. epidermidis did not present any genetic relation to each other. In conclusion, this study revealed three S. hominis and two S. epidermidis strains with resistance to linezolid due to a double mutation (C2190T and G2603T) in the domain V of the 23S rRNA gene. For the first time, the mutation of C2190T in S. epidermidis is described. This study also revealed the clonal spread of a S. hominis pulsotype between three public hospitals in the city of Natal, Brazil. These findings highlight the importance of continued vigilance of linezolid resistance in staphylococci. © 2015 APMIS. Published by John Wiley & Sons Ltd.

A spontaneous body color mutation in Drosophila nappae (Diptera, Drosophilidae

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Augusto Santos Rampasso

2017-04-01

Full Text Available A yellow-bodied male appeared spontaneously in an isofemale line of Drosophila nappae established from a wild-caught female collected at the Forest Reserve of the Instituto de Biociências da Universidade de São Paulo, Cidade Universitária “Armando de Salles Oliveira”, São Paulo city, state of São Paulo, Brazil. This is the first mutation found in D. nappae, a species belonging to the tripunctata group. The yellow male was isolated and individually crossed to two wild-type (brown-colored virgin females from the same generation, yielding numerous offspring. All F1 individuals were wild-type, but the phenotypes yielded in the F2 generation were wild-type females, and both wild-type and yellow-bodied males. The latter yellow male mutants backcrossed with virgin wild-type F1 females yielded four phenotypes (brown-colored and yellow-colored flies of both sexes, indicating an inheritance pattern of X-linked recessive. Chi-square goodness of fit tests (α = 5% detected no significant differences among the number of flies per phenotype. The new mutation is hereby named yellow, due to its probable homology to a similar mutation with an identical inheritance pattern found in Drosophila melanogaster. Keywords: Recessive, São Paulo, Tripunctata group, X-linked, Yellow

HIV-1 transmitted drug resistance and genetic diversity among patients from Piauí State, Northeast Brazil.

Science.gov (United States)

Moura, Maria Edileuza Soares; da Guarda Reis, Mônica Nogueira; Lima, Yanna Andressa Ramos; Eulálio, Kelsen Dantas; Cardoso, Ludimila Paula Vaz; Stefani, Mariane Martins Araújo

2015-05-01

HIV-1 transmitted-drug-resistance and genetic diversity are dynamic and may differ in distinct locations/risk groups. In Brazil, increased AIDS incidence and related mortality have been detected in the Northeast region, differently from the epicenter in the Southeast. This cross-sectional study describes transmitted-dru- resistance and HIV-1 subtypes in protease/PR and reverse transcriptase/RT regions among antiretroviral naïve patients from Piauí State, Northeast Brazil. Among 96 patients recruited 89 (92.7%) had HIV-1 PR/RT regions sequenced: 44 females and 45 males, 22 self-declared as men who have sex with men. Transmitted-drug-resistance was investigated by CPR tool (Stanford HIV-1 Drug Resistance/SDRM). HIV-1 subtypes were assigned by REGA and phylogenetic inference. Overall, transmitted-drug-resistance rate was 11.2% (10/89; CI 95%: 5.8-19.1%); 22.7% among men who have sex with men (5/22; CI 95%: 8.8-43.4%), 10% in heterosexual men (2/20; CI 95%: 1.7-29.3%) and 6.8% in women (3/44; CI 95%: 1.8-17.4%). Singleton mutations to protease-inhibitor/PI, nucleoside-reverse-transcriptase-inhibitor/NRTI or non-nucleoside-reverse-transcriptase-inhibitor/NNRTI predominated (8/10): PI mutations (M46L, V82F, L90M); NRTI mutations (M41L, D67N) and NNRTI mutations (K103N/S). Dual class resistance mutations to NRTI and NNRTI were observed: T215L (NRTI), Y188L (NNRTI) and T215N (NRTI), F227L (NNRTI). Subtype B prevailed (86.6%; 77/89), followed by subtype F1 (1.1%, 1/89) and subtype C (1.1%, 1/89). B/F1 and B/C intersubtype recombinants represented 11.2% (10/89). In Piauí State extensive testing of incidence and transmitted-drug-resistance in all populations with risk behaviors may help control AIDS epidemic locally. © 2015 Wiley Periodicals, Inc.

Mitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas

DEFF Research Database (Denmark)

Jeppesen, Tina Dysgaard; Al-Hashimi, Noor; Duno, Morten

2017-01-01

Studies have shown that difference in mtDNA mutation load among tissues is a result of postnatal modification. We present five family members with the m.8344A>G with variable phenotypes but uniform intrapersonal distribution of mutation load, indicating that there is no postnatal modification of mt......DNA mutation load in this genotype....

Challenges for malaria elimination in Brazil.

Science.gov (United States)

Ferreira, Marcelo U; Castro, Marcia C

2016-05-20

Brazil currently contributes 42 % of all malaria cases reported in the Latin America and the Caribbean, a region where major progress towards malaria elimination has been achieved in recent years. In 2014, malaria burden in Brazil (143,910 microscopically confirmed cases and 41 malaria-related deaths) has reached its lowest levels in 35 years, Plasmodium falciparum is highly focal, and the geographic boundary of transmission has considerably shrunk. Transmission in Brazil remains entrenched in the Amazon Basin, which accounts for 99.5 % of the country's malaria burden. This paper reviews major lessons learned from past and current malaria control policies in Brazil. A comprehensive discussion of the scientific and logistic challenges that may impact malaria elimination efforts in the country is presented in light of the launching of the Plan for Elimination of Malaria in Brazil in November 2015. Challenges for malaria elimination addressed include the high prevalence of symptomless and submicroscopic infections, emerging anti-malarial drug resistance in P. falciparum and Plasmodium vivax and the lack of safe anti-relapse drugs, the largely neglected burden of malaria in pregnancy, the need for better vector control strategies where Anopheles mosquitoes present a highly variable biting behaviour, human movement, the need for effective surveillance and tools to identify foci of infection in areas with low transmission, and the effects of environmental changes and climatic variability in transmission. Control actions launched in Brazil and results to come are likely to influence control programs in other countries in the Americas.

Neglected tropical diseases in Brazil.

Science.gov (United States)

Lindoso, José Angelo L; Lindoso, Ana Angélica B P

2009-01-01

Poverty is intrinsically related to the incidence of Neglected Tropical Diseases (NTDs). The main countries that have the lowest human development indices (HDI) and the highest burdens of NTDs are located in tropical and subtropical regions of the world. Among these countries is Brazil, which is ranked 70th in HDI. Nine out of the ten NTDs established by the World Health Organization (WHO) are present in Brazil. Leishmaniasis, tuberculosis, dengue fever and leprosy are present over almost the entire Brazilian territory. More than 90% of malaria cases occur in the Northern region of the country, and lymphatic filariasis and onchocerciasis occur in outbreaks in a particular region. The North and Northeast regions of Brazil have the lowest HDIs and the highest rates of NTDs. These diseases are considered neglected because there is not important investment in projects for the development of new drugs and vaccines and existing programs to control these diseases are not sufficient. Another problem related to NTDs is co-infection with HIV, which favors the occurrence of severe clinical manifestations and therapeutic failure. In this article, we describe the status of the main NTDs currently occurring in Brazil and relate them to the HDI and poverty.

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.

Science.gov (United States)

Orlacchio, Antonio; Babalini, Carla; Borreca, Antonella; Patrono, Clarice; Massa, Roberto; Basaran, Sarenur; Munhoz, Renato P; Rogaeva, Ekaterina A; St George-Hyslop, Peter H; Bernardi, Giorgio; Kawarai, Toshitaka

2010-02-01

The mutation of the spatacsin gene is the single most common cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum. Common clinical, pathological and genetic features between amyotrophic lateral sclerosis and hereditary spastic paraplegia motivated us to investigate 25 families with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival for mutations in the spatascin gene. The inclusion criterion was a diagnosis of clinically definite amyotrophic lateral sclerosis according to the revised El Escorial criteria. The exclusion criterion was a diagnosis of hereditary spastic paraplegia with thin corpus callosum in line with an established protocol. Additional pathological and genetic evaluations were also performed. Surprisingly, 12 sequence alterations in the spatacsin gene (one of which is novel, IVS30 + 1 G > A) were identified in 10 unrelated pedigrees with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival. The countries of origin of these families were Italy, Brazil, Canada, Japan and Turkey. The variants seemed to be pathogenic since they co-segregated with the disease in all pedigrees, were absent in controls and were associated with amyotrophic lateral sclerosis neuropathology in one member of one of these families for whom central nervous system tissue was available. Our study indicates that mutations in the spatascin gene could cause a much wider spectrum of clinical features than previously recognized, including autosomal recessive juvenile amyotrophic lateral sclerosis.

The Espinharas uranium occurrence, Brazil

International Nuclear Information System (INIS)

Fuchs, H.D.; Fonte, J. da; Suckau, V.; Thakur, V.

1981-01-01

Nuclam has been exploring for uranium in Brazil since 1976. During this period one uranium ore body has been found in the vicinity of Espinharas, a village in Paraiba State, northeast Brazil. According to present knowledge, the mineralized ore body is caused by metasomatic action. The history of discovery and the exploration work until the end of 1979 is given, showing the conceptual change with increasing knowledge of the mineralized zone. (author)

Identification of mutations associated with pyrethroid resistance in the voltage-gated sodium channel of the tomato leaf miner (Tuta absoluta).

Science.gov (United States)

Haddi, Khalid; Berger, Madeleine; Bielza, Pablo; Cifuentes, Dina; Field, Linda M; Gorman, Kevin; Rapisarda, Carmelo; Williamson, Martin S; Bass, Chris

2012-07-01

The tomato leaf miner, Tuta absoluta (Lepidoptera) is a significant pest of tomatoes that has undergone a rapid expansion in its range during the past six years and is now present across Europe, North Africa and parts of Asia. One of the main means of controlling this pest is through the use of chemical insecticides. In the current study insecticide bioassays were used to determine the susceptibility of five T. absoluta strains established from field collections from Europe and Brazil to pyrethroids. High levels of resistance to λ cyhalothrin and tau fluvalinate were observed in all five strains tested. To investigate whether pyrethroid resistance was mediated by mutation of the para-type sodium channel in T. absoluta the IIS4-IIS6 region of the para gene, which contains many of the mutation sites previously shown to confer knock down (kdr)-type resistance to pyrethroids across a range of different arthropod species, was cloned and sequenced. This revealed that three kdr/super-kdr-type mutations (M918T, T929I and L1014F), were present at high frequencies within all five resistant strains at known resistance 'hot-spots'. This is the first description of these mutations together in any insect population. High-throughput DNA-based diagnostic assays were developed and used to assess the prevalence of these mutations in 27 field strains from 12 countries. Overall mutant allele frequencies were high (L1014F 0.98, M918T 0.35, T929I 0.60) and remarkably no individual was observed that did not carry kdr in combination with either M918T or T929I. The presence of these mutations at high frequency in T. absoluta populations across much of its range suggests pyrethroids are likely to be ineffective for control and supports the idea that the rapid expansion of this species over the last six years may be in part mediated by the resistance of this pest to chemical insecticides. Crown Copyright © 2012. Published by Elsevier Ltd. All rights reserved.

Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention

DEFF Research Database (Denmark)

Meur, Gargi; Simon, Albane; Harun, Nasret

2009-01-01

OBJECTIVE: Heterozygous mutations in the human preproinsulin (INS) gene are a cause of nonsyndromic neonatal or early-infancy diabetes. Here, we sought to identify INS mutations associated with maturity-onset diabetes of the young (MODY) or nonautoimmune diabetes in mid-adult life, and to explore...... the molecular mechanisms involved. RESEARCH DESIGN AND METHODS: The INS gene was sequenced in 16 French probands with unexplained MODY, 95 patients with nonautoimmune early-onset diabetes (diagnosed at ... with early-onset diabetes whose clinical presentation is compatible with MODY. These led to the production of (pre)proinsulin molecules with markedly different trafficking properties and effects on ER stress, demonstrating a range of molecular defects in the beta-cell....

Molecular mechanisms of induced-mutations

International Nuclear Information System (INIS)

Kato, Takeshi

1985-01-01

The outcome of recent studies on mechanisms of induced-mutations is outlined with particular emphasis on the dependence of recA gene function in Escherichia coli. Genes involved in spontaneous mutation and x-ray- and chemical-induced mutation and genes involved in adaptive response are presented. As for SOS mutagenesis, SOS-induced regulation mechanisms and mutagenic routes are described. Furthermore, specificity of mutagens themselves are discussed in relation to mechanisms of base substitution, frameshift, and deletion mutagenesis. (Namekawa, K.)

Invisible Migrants : Norwegians in Brazil, 1820-1940

OpenAIRE

Figueiredo, Clarisse Carvalho

2012-01-01

The present study focuses on Norwegian migration to Brazil from a macro-level perspective: how many migrated, when, where, how and why. The present analysis is based on data from emigration and immigration records, passenger lists, as well as other “alternative” sources such as travelogues, personal and historical accounts and letters, collected both in Norway and Brazil. Official emigration and immigration statistics on this group are often incomplete, unreliable or simply inexistent, in par...

Mechanisms of pyrethroid resistance inHaematobia irritans (Muscidae from Mato Grosso do Sul state, Brazil

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Antonio Thadeu Medeiros Barros

Full Text Available Horn fly resistance to pyrethroid insecticides occurs throughout Brazil, but knowledge about the involved mechanisms is still in an incipient stage. This survey was aimed to identify the mechanisms of horn fly resistance to cypermethrin in Mato Grosso do Sul state, Brazil. Impregnated filter paper bioassays using cypermethrin, synergized or not with piperonyl butoxide (PBO and triphenyl phosphate (TPP, were conducted from March 2004 to June 2005 in horn fly populations (n = 33 from all over the state. All populations were highly resistant to cypermethrin, with resistance factors (RF ranging from 89.4 to 1,020.6. Polymerase chain reaction (PCR assays to detect the knockdown resistance (kdr mutation also were performed in 16 samples. The kdr mutation was found in 75% of the tested populations, mostly with relatively low frequencies (<20%, and was absent in some highly resistant populations. Addition of TPP did not significantly reduce the LC50 in any population. However, PBO reduced LC50s above 40-fold in all tested populations, resulting in RFs ≤ 10 in most cases. Horn fly resistance to cypermethrin is widespread in the state, being primarily caused by an enhanced activity of P450 mono-oxygenases and secondarily by reduced target site sensitivity.

Phenylketonuria mutation analysis in Northern Ireland: A rapid stepwise approach

Energy Technology Data Exchange (ETDEWEB)

Zschocke, J.; Graham, C.A.; Nevin, N.C. [Queen`s Univ., Belfast (Australia)] [and others

1995-12-01

We present a multistep approach for the rapid analysis of phenylketonuria (PKU) mutations. In the first step, three common mutations and a polymorphic short tandem repeat (STR) system are rapidly analyzed with a fluorescent multiplex assay. In the second step, minihaplotypes combining STR and VNTR data are used to determine rare mutations likely to be present in an investigated patient, which are then confirmed by restriction enzyme analysis. The remaining mutations are analyzed with denaturant gradient-gel electrophoresis and sequencing. The first two steps together identify both mutations in 90%-95% of PKU patients, and results can be obtained within 2 d. We have investigated 121 Northern Irish families with hyperphenylalaninemia, including virtually all patients born since 1972, and have found 34 different mutations on 241 of the 242 mutant alleles. Three mutations (R408W, 165T, and F39L) account for 57.5% of mutations, while 14 mutations occur with a frequency of 1%-6%. The present analysis system is efficient and inexpensive and is particularly well suited to routine mutation analysis in a diagnostic setting. 19 refs., 5 tabs.

Manual on mutation breeding. 2. ed.

International Nuclear Information System (INIS)

1977-01-01

The manual is a compilation of work done on the use of induced mutations in plant breeding, and presents general methods and techniques in this field. The use of chemical mutagens and ionizing radiations (X-rays, gamma rays, α- and β-particles, protons, neutrons) are described as well as the effects of these mutagens. The different types of mutations achieved can be divided into genome mutations, chromosome mutations and extra nuclear mutations. Separate chapters deal with mutation techniques in breeding seed-propagated species and asexually propagated plants (examples of development of cultivars given). Plant characters which can be improved by mutation breeding include yield, ripening time, growth habit, disease resistance and tolerance to environmental factors (temperature, salinity etc.). The use of mutagens for some specific plant breeding problems is discussed and attention is also paid to somatic cell genetics in connection with induced mutations. The manual contains a comprehensive bibliography (60 p. references) and a subject index

Analysis of HLA-A antigens and C282Y and H63D mutations of the HFE gene in Brazilian patients with hemochromatosis

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Bittencourt P.L.

2002-01-01

Full Text Available The hemochromatosis gene, HFE, is located on chromosome 6 in close proximity to the HLA-A locus. Most Caucasian patients with hereditary hemochromatosis (HH are homozygous for HLA-A3 and for the C282Y mutation of the HFE gene, while a minority are compound heterozygotes for C282Y and H63D. The prevalence of these mutations in non-Caucasian patients with HH is lower than expected. The objective of the present study was to evaluate the frequencies of HLA-A antigens and the C282Y and H63D mutations of the HFE gene in Brazilian patients with HH and to compare clinical and laboratory profiles of C282Y-positive and -negative patients with HH. The frequencies of HLA-A and C282Y and H63D mutations were determined by PCR-based methods in 15 male patients (median age 44 (20-72 years with HH. Eight patients (53% were homozygous and one (7% was heterozygous for the C282Y mutation. None had compound heterozygosity for C282Y and H63D mutations. All but three C282Y homozygotes were positive for HLA-A3 and three other patients without C282Y were shown to be either heterozygous (N = 2 or homozygous (N = 1 for HLA-A3. Patients homozygous for the C282Y mutation had higher ferritin levels and lower age at onset, but the difference was not significant. The presence of C282Y homozygosity in roughly half of the Brazilian patients with HH, together with the findings of HLA-A homozygosity in C282Y-negative subjects, suggest that other mutations in the HFE gene or in other genes involved in iron homeostasis might also be linked to HH in Brazil.

Mutation spectrum of Chinese patients with Bartter syndrome.

Science.gov (United States)

Han, Yue; Lin, Yi; Sun, Qing; Wang, Shujuan; Gao, Yanxia; Shao, Leping

2017-11-24

Bartter syndrome (BS) has been rarely reported in Chinese population except for a few case reports. This investigation was aimed to analyze the mutations of the causal genes in sixteen Chinese patients with BS, and review their followup and treatment. Identify mutations by the next generation sequencing and the multiplex ligation-dependent probe amplification (MLPA). Clinical characteristics and biochemical findings at the first presentation as well as follow-up were reviewed. 15 different CLCNKB gene mutations were identified in fourteen patients with BS, including 11 novel ones. A novel missense mutation and a novel small deletion were found from SLC12A1 gene. A novel gross deletion was found in CLCNKA gene. A recurrent missense mutation was identified from BSND gene. We found that the whole gene deletion mutation of CLCNKB gene was the most frequent mutation (32%), and the rate of gross deletion was up to 50 percent in this group of Chinese patients. The present study has found 19 mutations, including 14 novel ones, which would enrich the human gene mutation database (HGMD) and provide valuable references to the genetic counseling and diagnosis of the Chinese population.

CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A.

Science.gov (United States)

Testa, Francesco; Melillo, Paolo; Bonnet, Crystel; Marcelli, Vincenzo; de Benedictis, Antonella; Colucci, Raffaella; Gallo, Beatrice; Kurtenbach, Anne; Rossi, Settimio; Marciano, Elio; Auricchio, Alberto; Petit, Christine; Zrenner, Eberhart; Simonelli, Francesca

2017-08-01

To evaluate differences in the visual phenotype and natural history of Usher syndrome caused by mutations in MYO7A or USH2A, the most commonly affected genes of Usher syndrome Type I (USH1) and Type II (USH2), respectively. Eighty-eight patients with a clinical diagnosis of USH1 (26 patients) or USH2 (62 patients) were retrospectively evaluated. Of these, 48 patients had 2 disease-causing mutations in MYO7A (10 USH1 patients), USH2A (33 USH2 patients), and other USH (5 patients) genes. Clinical investigation included best-corrected visual acuity, Goldmann visual field, fundus photography, electroretinography, and audiologic and vestibular assessments. Longitudinal analysis was performed over a median follow-up time of 3.5 years. Patients carrying mutations in MYO7A had a younger age of onset of hearing and visual impairments than those carrying mutations in USH2A, leading to an earlier diagnosis of the disease in the former patients. Longitudinal analysis showed that visual acuity and visual field decreased more rapidly in subjects carrying MYO7A mutations than in those carrying USH2A mutations (mean annual exponential rates of decline of 3.92 vs. 3.44% and of 8.52 vs. 4.97%, respectively), and the former patients reached legal blindness on average 15 years earlier than the latter. The current study confirmed a more severe progression of the retinal disease in USH1 patients rather than in USH2 patients. Furthermore, most visual symptoms (i.e., night blindness, visual acuity worsening) occurred at an earlier age in USH1 patients carrying mutations in MYO7A.

Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.

Science.gov (United States)

Leshinsky-Silver, Esther; Shuvalov, Ruslan; Inbar, Shani; Cohen, Sarit; Lev, Dorit; Lerman-Sagie, Tally

2011-04-01

An increasing number of reports describe mutations in mitochondrial DNA coding regions, especially in mitochondrial DNA- encoded nicotinamide adenine dinucleotide dehydrogenase subunit genes of the respiratory chain complex I, as causing early-onset Leigh syndrome. The authors report the molecular findings in a 24-year-old patient with juvenile-onset Leigh syndrome presenting with optic atrophy, ataxia dystonia, and epilepsy. A brain magnetic resonance imaging revealed bilateral basal ganglia and thalamic hypointensities, and a magnetic resonance spectroscopy revealed an increased lactate peak. The authors identified a T14487C change causing M63V substitution in the mitochondrial ND6 gene. The mutation was heteroplasmic in muscle and blood samples, with different mutation loads, and was absent in the patient's mother's urine and blood samples. They suggest that the T14487C mtDNA mutation should be analyzed in Leigh syndrome, presenting with optic atrophy, ataxia, dystonia, and epilepsy, regardless of age.

Equine influenza in Brazil

Directory of Open Access Journals (Sweden)

Patricia Filippsen Favaro

2016-06-01

Full Text Available Equine influenza virus (EIV (H3N8 and H7N7 is the causative agent of equine influenza, or equine flu. The H7N7 subtype has been considered to be extinct worldwide since 1980. Affected animals have respiratory symptoms that can be worsened by secondary bacterial respiratory infection, thereby leading to great economic losses in the horse-breeding industry. In Brazil, equine influenza outbreaks were first reported in 1963 and studies on hemagglutination antibodies against viral subtypes in Brazilian horses have been conducted since then. The objective of the present review was to present the history of the emergence of EIV around the world and in Brazil and the studies that have thus far been developed on EIV in Brazilian equines.

Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.

Science.gov (United States)

Das, Dhanjit Kumar; Raha, Sarbani; Sanghavi, Daksha; Maitra, Anurupa; Udani, Vrajesh

2013-02-15

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder, primarily affecting females and characterized by developmental regression, epilepsy, stereotypical hand movements, and motor abnormalities. Its prevalence is about 1 in 10,000 female births. Rett syndrome is caused by mutations within methyl CpG-binding protein 2 (MECP2) gene. Over 270 individual nucleotide changes which cause pathogenic mutations have been reported. However, eight most commonly occurring missense and nonsense mutations account for almost 70% of all patients. We screened 90 individuals with Rett syndrome phenotype. A total of 19 different MECP2 mutations and polymorphisms were identified in 27 patients. Of the 19 mutations, we identified 7 (37%) frameshift, 6 (31%) nonsense, 14 (74%) missense mutations and one duplication (5%). The most frequent pathogenic changes were: missense p.T158M (11%), p.R133C (7.4%), and p.R306C (7.4%) and nonsense p.R168X (11%), p.R255X (7.4%) mutations. We have identified two novel mutations namely p.385-388delPLPP present in atypical patients and p.Glu290AlafsX38 present in a classical patient of Rett syndrome. Sequence homology for p.385-388delPLPP mutation revealed that these 4 amino acids were conserved across mammalian species. This indicated the importance of these 4 amino acids in structure and function of the protein. A novel variant p.T479T has also been identified in a patient with atypical Rett syndrome. A total of 62 (69%) patients remained without molecular genetics diagnosis that necessitates further search for mutations in other genes like CDKL5 and FOXG1 that are known to cause Rett phenotype. The majority of mutations are detected in exon 4 and only one mutation was present in exon 3. Therefore, our study suggests the need for screening exon 4 of MECP2 as first line of diagnosis in these patients. Copyright © 2012 Elsevier B.V. All rights reserved.

Urinary Tract Effects of HPSE2 Mutations

OpenAIRE

Stuart, H; Roberts, N; Hilton, E; McKenzie, E; Daly, S; Hadfield, K; Rahal, J; Gardiner, N; Tanley, S; Lewis, M; Sites, E; Angle, B; Alves, C; Lourenço, T; Rodrigues, M

2015-01-01

Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE2 mutations are presented, including one with deleted asparagine 254, suggesting a role for this amino acid, which is conserved in vertebrate orthologs. HPSE2 mutations were absent in 23 non-neurog...

THE COOPERATIVE CREDIT MUTUAL IN BRAZIL.

Directory of Open Access Journals (Sweden)

Laércio Baptista da Silva

2013-06-01

Full Text Available This study presents an analysis of the reality of credit unions in Brazil, in view of the singular importance of credit unions for the whole society as an alternative to private resources in favor of members of the community where they are located. It confirms that, in Brazil, the mutual credit unions, besides being presented as one of the viable options within the financial system, are also seen as an alternative by which some sectors of society promote the humanization of the financial system by offering credit and return on capital with fairer interest rates.

Present stage of the use of radioactive tracers in studies carried out at Companhia de Tecnologia de Saneamento Ambiental, SP, Brazil, in the field of environmental engineering

International Nuclear Information System (INIS)

Sanchez, W.; Agudo, E.G.

1979-01-01

Studies using radioactive tracers in the field of environmental engineering, carried out at Companhia de Tecnologia de Saneamento Ambiental, SP, Brazil, from 1975 to 1978 are presented. Future research to be developed in this area is also discussed. (M.A.) [pt

High prevalence of exon 8 G533C mutation in apparently sporadic medullary thyroid carcinoma in Greece.

Science.gov (United States)

Sarika, H L; Papathoma, A; Garofalaki, M; Vasileiou, V; Vlassopoulou, B; Anastasiou, E; Alevizaki, M

2012-12-01

Genetic screening for ret mutation has become routine practice in the evaluation of medullary thyroid carcinoma (MTC). Approximately 25% of these tumours are familial, and they occur as components of the multiple endocrine neoplasia type 2 syndromes (MEN 2A and 2B) or familial MTC. In familial cases, the majority of mutations are found in exons 10, 11, 13, 14 or 15 of the ret gene. A rare mutation involving exon 8 (G533C) has recently been reported in familial cases of MTC in Brazil and Greece; some of these cases were originally thought to be sporadic. The aim of this study was to re-evaluate a series of sporadic cases of MTC, with negative family history, and screen them for germline mutations in exon 8. Genomic DNA was extracted from peripheral lymphocytes in 129 unrelated individuals who had previously been characterized as 'sporadic' based on the negative family history and negative screening for ret gene mutations. Samples were analysed in Applied Biosystems 7500 real-time PCR and confirmed by sequencing. The G533C exon 8 mutation was identified in 10 of 129 patients with sporadic MTC. Asymptomatic gene carriers were subsequently identified in other family members. In our study, we found that 7·75% patients with apparently sporadic MTC do carry G533C mutation involving exon 8 of ret. We feel that there is now a need to include exon 8 mutation screening in all patients diagnosed as sporadic MTC, in Greece. © 2012 Blackwell Publishing Ltd.

Making the invisible, visible: a cross-sectional study of late presentation to HIV/AIDS services among men who have sex with men from a large urban center of Brazil.

Science.gov (United States)

MacCarthy, Sarah; Brignol, Sandra; Reddy, Manasa; Nunn, Amy; Dourado, Ines

2014-12-22

Late presentation to testing, treatment and continued care has detrimental impacts on the health of HIV-positive individuals as well as their sexual partners' health. Men who have sex with men (MSM) experience disproportionately high rates of HIV both globally and in Brazil. However, the factors that inhibit linkage to care among MSM remain unclear. We conducted a cross-sectional study of HIV-positive MSM (n = 740) enrolled in HIV/AIDS services in a large urban center of Brazil from August 2010 to June 2011. Descriptive, bivariate and multivariate statistics were conducted using STATA 12 to examine the relationship between a range of variables and late presentation, defined as having a first CD4 count make currently invisible people, visible.

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy

NARCIS (Netherlands)

Kashani, A.; Thiffault, I.; Dilenge, M.E.; Saint-Martin, C.; Guerrero, K.; Tran, L.T.; Shoubridge, E.; van der Knaap, M.S.; Braverman, N.; Bernard, G.

2014-01-01

We report a case of mild cavitating leukoencephalopathy associated with a homozygous c.755A > G (p.Asp252Gly) NDUFS1 mutation in a 7-year old boy. Biochemical analysis confirmed an isolated reduction in complex I activity. Magnetic resonance imaging of the brain showed a diffuse cystic

Natural radionuclides present in the beach sands of Guarapari and Anchieta, EspÍrito Santo, Brazil

International Nuclear Information System (INIS)

Aguilar, Victor J.; Takahashi, Laura C.

2017-01-01

The natural radioactivity was determined in the Espírito Santo sands, in Brazil, in eight beaches from Anchieta and Guarapari. In the methodology, the sands of each beach were collected, sifted, dried in the oven, and conditioned in Marinellis. Its weight was measured on the scale, and stored for 30 days for their secular equilibrium. Then, the gamma spectrometry measurement was performed. The specific activities for each beach were calculated and the radioactive balance of the 238 U and 232 Th series was also studied. From the standard deviation of the estimated error (S), the chi-square distribution parameter (R 2 ), the coefficient of determination R 2 , R-sq, and the adjusted R 2 , R-sq (adj) was studied. In the results, a regression curve (fitted line plot) was performed on the quality adjustment with a 95% confidence interval for the values found in Neptune, Além, Coninhos, Onça, Três Praias, Morcego and Padres beaches. The R 2 measured presented values close to 1. The beach Areia Vermelha presented a specific activity with a percentage of 98.41% in relation to the other beaches and very high activity compared to the world average. (author)

Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family.

Science.gov (United States)

Godbole, Koumudi G; Ramachandran, Angelina; Karkamkar, Ashwini S; Dalal, Ashwin B

2018-04-13

While knowledge of HBB gene mutations is necessary for offering prenatal diagnosis (PND) of β-thalassemia (β-thal), a genotype-phenotype correlation may not always be available for rare variants. We present for the first time, genotype-phenotype correlation for a compound heterozygous status with IVS-I-5 (G>C) (HBB: c.92+5G>C) and HBB: c.407C>T (Hb Alperton) mutations on the HBB gene in an Indian family. Hb Alperton is a very rare hemoglobin (Hb) variant with scant published information about its clinical presentation, especially when accompanied with another HBB gene mutation. Here we provide biochemical as well as clinical details of this variant.

The origin of the p.E180 growth hormone receptor gene mutation.

Science.gov (United States)

Ostrer, Harry

2016-06-01

Laron syndrome, an autosomal recessive condition of extreme short stature, is caused by the absence or dysfunction of the growth hormone receptor. A recurrent mutation in the GHR gene, p.E180, did not alter the encoded amino acid, but activated a cryptic splice acceptor resulting in a receptor protein with an 8-amino acid deletion in the extracellular domain. This mutation has been observed among Sephardic Jews and among individuals in Ecuador, Brazil and Chile, most notably in a large genetic isolate in Loja, Ecuador. A common origin has been postulated based on a shared genetic background of markers flanking this mutation, suggesting that the Lojanos (and others) may have Sephardic (Converso) Jewish ancestry. Analysis of the population structure of Lojanos based on genome-wide analysis demonstrated European, Sephardic Jewish and Native American ancestry in this group. X-autosomal comparison and monoallelic Y chromosomal and mitochondrial genetic analysis demonstrated gender-biased admixture between Native American women and European and Sephardic Jewish men. These findings are compatible with the co-occurrence of the Inquisition and the colonization of the Americas, including Converso Jews escaping the Inquisition in the Iberian Peninsula. Although not found among Lojanos, Converso Jews also brought founder mutations to contemporary Hispanic and Latino populations in the BRCA1 (c.68_69delAG) and BLM (c.2207_2212delATCTGAinsTAGATTC) genes. Copyright © 2015 Elsevier Ltd. All rights reserved.

All about neosporosis in Brazil

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Camila Koutsodontis Cerqueira-Cézar

2017-08-01

Full Text Available Abstract Neospora caninum is protozoan parasite with domestic and wild dogs, coyotes and grey wolves as the definitive hosts and many warm-blooded animals as intermediate hosts. It was cultivated and named in 1988. Neosporosis is a major disease of cattle and has no public health significance. Since 1990’s N. caninum has emerged as a major cause of abortion in cattle worldwide, including in Brazil. N. caninum also causes clinical infections in several other animal species. Considerable progress has been made in understanding the biology of N. caninum and there are more than 200 papers on this subject from Brazil. However, most of the reports on neosporosis from Brazil are serological surveys. Overall, little is known of clinical neosporosis in Brazil, particularly cattle. The few reports pertain to sporadic cases of abortion with no information on epidemics or storms of abortion. The objective of the present review is to summarize all reports from Brazil and suggest topic for further research, including prevalence of N. caninum oocysts in soil or in canine feces, and determining if there are additional definitive hosts, other than the domestic dog. There is need for a national survey in cattle using defined parameters. Future researches should focus on molecular characterization of N. caninum strains, possibility of vaccine production and relationship between wildlife and livestock epidemiology.

The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.

Science.gov (United States)

Qian, Yaping; Johnson, Judith A; Connor, Jessica A; Valencia, C Alexander; Barasa, Nathaniel; Schubert, Jeffery; Husami, Ammar; Kissell, Diane; Zhang, Ge; Weirauch, Matthew T; Filipovich, Alexandra H; Zhang, Kejian

2014-06-01

The mutations in UNC13D are responsible for familial hemophagocytic lymphohistiocytosis (FHL) type 3. A 253-kb inversion and two deep intronic mutations, c.118-308C > T and c.118-307G > A, in UNC13D were recently reported in European and Asian FHL3 patients. We sought to determine the prevalence of these three non-coding mutations in North American FHL patients and evaluate the significance of examining these new mutations in genetic testing. We performed DNA sequencing of UNC13D and targeted analysis of these three mutations in 1,709 North American patients with a suspected clinical diagnosis of hemophagocytic lymphohistiocytosis (HLH). The 253-kb inversion, intronic mutations c.118-308C > T and c.118-307G > A were found in 11, 15, and 4 patients, respectively, in which the genetic basis (bi-allelic mutations) explained 25 additional patients. Taken together with previously diagnosed FHL3 patients in our HLH patient registry, these three non-coding mutations were found in 31.6% (25/79) of the FHL3 patients. The 253-kb inversion, c.118-308C > T and c.118-307G > A accounted for 7.0%, 8.9%, and 1.3% of mutant alleles, respectively. Significantly, eight novel mutations in UNC13D are being reported in this study. To further evaluate the expression level of the newly reported intronic mutation c.118-307G > A, reverse transcription PCR and Western blot analysis revealed a significant reduction of both RNA and protein levels suggesting that the c.118-307G > A mutation affects transcription. These specified non-coding mutations were found in a significant number of North American patients and inclusion of them in mutation analysis will improve the molecular diagnosis of FHL3. © 2014 Wiley Periodicals, Inc.

Group Analytic Psychotherapy in Brazil.

Science.gov (United States)

Penna, Carla; Castanho, Pablo

2015-10-01

Group analytic practice in Brazil began quite early. Highly influenced by the Argentinean Pichon-Rivière, it enjoyed a major development from the 1950s to the early 1980s. Beginning in the 1970s, different factors undermined its development and eventually led to its steep decline. From the mid 1980s on, the number of people looking for either group analytic psychotherapy or group analytic training decreased considerably. Group analytic psychotherapy societies struggled to survive and most of them had to close their doors in the 1990s and the following decade. Psychiatric reform and the new public health system have stimulated a new demand for groups in Brazil. Developments in the public and not-for-profit sectors, combined with theoretical and practical research in universities, present promising new perspectives for group analytic psychotherapy in Brazil nowadays.

Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFβ Receptor Mutations in Benign Joint Hypermobility

OpenAIRE

Mehta, Puja; Holder, Susan; Fisher, Benjamin; Vincent, Tonia; Nadesalingam, Kavitha; Maciver, Helen; Shingler, Wendy; Bakshi, Jyoti; Hassan, Sadon; D'Cruz, David; Chan, Antoni; Litwic, Anna E.; McCrae, Fiona; Seth, Rakhi; McCrae, Fiona

2017-01-01

Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFβ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diag...

Emergent HIV-1 Drug Resistance Mutations Were Not Present at Low-Frequency at Baseline in Non-Nucleoside Reverse Transcriptase Inhibitor-Treated Subjects in the STaR Study.

Science.gov (United States)

Porter, Danielle P; Daeumer, Martin; Thielen, Alexander; Chang, Silvia; Martin, Ross; Cohen, Cal; Miller, Michael D; White, Kirsten L

2015-12-07

At Week 96 of the Single-Tablet Regimen (STaR) study, more treatment-naïve subjects that received rilpivirine/emtricitabine/tenofovir DF (RPV/FTC/TDF) developed resistance mutations compared to those treated with efavirenz (EFV)/FTC/TDF by population sequencing. Furthermore, more RPV/FTC/TDF-treated subjects with baseline HIV-1 RNA >100,000 copies/mL developed resistance compared to subjects with baseline HIV-1 RNA ≤100,000 copies/mL. Here, deep sequencing was utilized to assess the presence of pre-existing low-frequency variants in subjects with and without resistance development in the STaR study. Deep sequencing (Illumina MiSeq) was performed on baseline and virologic failure samples for all subjects analyzed for resistance by population sequencing during the clinical study (n = 33), as well as baseline samples from control subjects with virologic response (n = 118). Primary NRTI or NNRTI drug resistance mutations present at low frequency (≥2% to 20%) were detected in 6.6% of baseline samples by deep sequencing, all of which occurred in control subjects. Deep sequencing results were generally consistent with population sequencing but detected additional primary NNRTI and NRTI resistance mutations at virologic failure in seven samples. HIV-1 drug resistance mutations emerging while on RPV/FTC/TDF or EFV/FTC/TDF treatment were not present at low frequency at baseline in the STaR study.

Emergent HIV-1 Drug Resistance Mutations Were Not Present at Low-Frequency at Baseline in Non-Nucleoside Reverse Transcriptase Inhibitor-Treated Subjects in the STaR Study

Directory of Open Access Journals (Sweden)

Danielle P. Porter

2015-12-01

Full Text Available At Week 96 of the Single-Tablet Regimen (STaR study, more treatment-naïve subjects that received rilpivirine/emtricitabine/tenofovir DF (RPV/FTC/TDF developed resistance mutations compared to those treated with efavirenz (EFV/FTC/TDF by population sequencing. Furthermore, more RPV/FTC/TDF-treated subjects with baseline HIV-1 RNA >100,000 copies/mL developed resistance compared to subjects with baseline HIV-1 RNA ≤100,000 copies/mL. Here, deep sequencing was utilized to assess the presence of pre-existing low-frequency variants in subjects with and without resistance development in the STaR study. Deep sequencing (Illumina MiSeq was performed on baseline and virologic failure samples for all subjects analyzed for resistance by population sequencing during the clinical study (n = 33, as well as baseline samples from control subjects with virologic response (n = 118. Primary NRTI or NNRTI drug resistance mutations present at low frequency (≥2% to 20% were detected in 6.6% of baseline samples by deep sequencing, all of which occurred in control subjects. Deep sequencing results were generally consistent with population sequencing but detected additional primary NNRTI and NRTI resistance mutations at virologic failure in seven samples. HIV-1 drug resistance mutations emerging while on RPV/FTC/TDF or EFV/FTC/TDF treatment were not present at low frequency at baseline in the STaR study.

Uranium enrichment by jet nozzle separation process in the German-Brazil cooperation program

International Nuclear Information System (INIS)

Becker, E.W.

1991-01-01

It presents a lecture on technical and commercial aspects of uranium isotopic enrichment by the Get Lozzle Method in Brazil. The analysis is presented regarding the context of bilateral agreement German-Brazil it discusses the technical problems of a demonstration plant design as well as the commercial exportation viability of enriched uranium produced in Brazil by the Jet Nozzle Method. (author)

TOX3 mutations in breast cancer.

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James Owain Jones

Full Text Available TOX3 maps to 16q12, a region commonly lost in breast cancers and recently implicated in the risk of developing breast cancer. However, not much is known of the role of TOX3 itself in breast cancer biology. This is the first study to determine the importance of TOX3 mutations in breast cancers. We screened TOX3 for mutations in 133 breast tumours and identified four mutations (three missense, one in-frame deletion of 30 base pairs in six primary tumours, corresponding to an overall mutation frequency of 4.5%. One potentially deleterious missense mutation in exon 3 (Leu129Phe was identified in one tumour (genomic DNA and cDNA. Whilst copy number changes of 16q12 are common in breast cancer, our data show that mutations of TOX3 are present at low frequency in tumours. Our results support that TOX3 should be further investigated to elucidate its role in breast cancer biology.

Fast reactor research activities in Brazil

International Nuclear Information System (INIS)

Menezes, A.

1998-01-01

Fast reactor activities in Brazil have the objective of establishing a consistent knowledge basis which can serve as a support for a future transitions to the activities more directly related to design, construction and operation of an experimental fast reactor, although its materialization is still far from being decided. Due to the present economic difficulties and uncertainties, the program is modest and all efforts have been directed towards its consolidation, based on the understanding that this class of reactors will play an important role in the future and Brazil needs to be minimally prepared. The text describes the present status of those activities, emphasizing the main progress made in 1996. (author)

Novelties in the genus Persicaria (Polygonaceae) in Brazil

DEFF Research Database (Denmark)

Funez, Luís A.; Hassemer, Gustavo

2018-01-01

This work presents novelties in the genus Persicaria in Brazil. More specifically, we describe P. sylvestris, a new species from the Atlantic rainforest in subtropical Brazil, propose the new combination P. diospyrifolium and designate a lectotype for its basionym, Polygonum diospyrifolium. The new...... species has until now been identified as P. acuminata, from which it differs by morphological characters as well as ecological aspects. We also provide photographs of the new species and of similar species along with a distribution map and a key to the species of Persicaria in Brazil....

Sectoral Innovation System Foresight in Brazil and Korea

DEFF Research Database (Denmark)

Dahl Andersen, Allan; Andersen, Per Dannemand; Park, Byeongwon

involved in strategic innovation system (IS) transformation. This paper seeks to address the latter research gaps by exploring sector foresight in Brazil and South Korea (henceforth Korea). Though very different, both countries face challenges of IS transformation. In both countries sector level foresight...... in emerging economies as Brazil and Korea. Chapter two will outline the basic principles of ISF that will be translated into indicators for our measuring of ISF. Also, it will illustrate why the sector-level approach is necessary. Chapter three presents sector foresight cases from Brazil and Korea. Chapter...

Brazil: The “coup” and was given

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Colectivo Canudos

2016-04-01

Full Text Available Many reforms are live and suffer in Brazil, even governments that are called progesistas today discussing the possibility of a “coup”, but those who speak of this possibility, do not see that as Brazil is suffering a blow hidden under the defense of “democracy” for the few. We present a characterization of the coup we speak.

Exome mutation burden predicts clinical outcome in ovarian cancer carrying mutated BRCA1 and BRCA2 genes

DEFF Research Database (Denmark)

Birkbak, Nicolai Juul; Kochupurakkal, Bose; Gonzalez-Izarzugaza, Jose Maria

2013-01-01

drugs and relative to non-mutation carriers present a favorable clinical outcome following therapy. Genome sequencing studies have shown a high number of mutations in the tumor genome in patients carrying BRCA1 or BRCA2 mutations (mBRCA). The present study used exome-sequencing and SNP 6 array data...... between low Nmut and shorter PFS and OS in mBRCA HGSOC by Cox regression and Kaplan-Meier analyses. The association was also significant when the analysis was limited to germline BRCA1 or BRCA2 mutated patients with SNP array-determined loss of heterozygosity of the BRCA1 or BRCA2 locus in the tumors....... In the mBRCA HGSOC tumors, Nmut was correlated with the genome fraction with loss of heterozygosity and with number of telomeric allelic imbalance, genomic measures evaluating chromosomal instability. However, no significant association between Nmut and PFS or OS was found in HGSOC carrying wild-type BRCA1...

Induction of in vivo mutation in chrysanthemum (Dendranthema grandiflora Tzvelev) cv. Pink Repin breeding

International Nuclear Information System (INIS)

Neto, Augusto Tulmann; Latado, Rodrigo Rocha

1997-01-01

Mutation induction was used with the objective of obtaining mutants for flower colour of chrysanthemum, cv. Repin (pink colour). Rooted cuttings were irradiated with 20 Gy of gamma rays and before the selection the cutting back method was used to advance the generations. The frequency of colour mutants observed was 5.8%. Among the mutants obtainedthe white and dark-pink-coloured ones were evaluated in yield trial and post-harvest. The results indicated that these mutants mantained the same agronomical characteristics showed by the control, with the exception of plant height in the white mutant that was shorter. Due to commercial interest of the producers, these mutants were multiplied and released as new cultivars. The white flower colour mutant was named Cristiane and the dark-pink, Ingrid. This was the first example of cultivars from an ornamental plant released by mutation breeding in Brazil. (author)

Mutational specificity of γ-rays

International Nuclear Information System (INIS)

Hoebee, Barbara.

1990-01-01

The aim of the study described in this thesis was to get more information on the mutagenic properties of radiation-induced DNA modifications and the possible mechanisms involved in radiation-induced mutagenesis, principally by investigating the kinds of mutations by DNA sequence analysis. The mutations were analyzed after γ-irradiation of recombinant bacteriophage M13 and plasmide pUC DNA in diluted aqueous solutions, followed by transfection or transformation to E. coli cells, in which the damaged DNA molecules are repaired and replicated. Error-prone repair, misrepair or bypass of lesions during replication may lead to the introduction of mutations. Both the M13 and the plasmid DNA used in our mutation studies contain a mutation target sequence, which makes an easy selection and sequence analysis of mutant DNA molecules possible. Under the radiation conditions used, e.g. irradiation of diluted aqueous DNA solutions, only DNA damage occurs introduced by the water derived OH* and H* radicals and the hydrated electrons. By using different gas conditions during irradiation the relative yields of these reaction species can be manipulated, which opens up the opportunity to determine their effects separately. The mutation spectrum obtained in double-stranded (ds) M13DNA after irradiation under oxic conditions and the mutation spectrum obtained under the same conditions and in the same mutation target but cloned in plasmid DNA, are described. The mutation specificity under anoxic conditions in ds M13DNA is given. Results obtained after irradiation of ds M13DNA under N 2 conditions are discussed together with experiments with single-stranded DNA. Similarities and differences between radiation-induced mutation spectra obtained by other groups and those presented in this thesis are discussed. (author). 155 refs.; 134 figs.; 16 tabs

Mutation analysis of the PAH gene in phenylketonuria patients from Rio de Janeiro, Southeast Brazil.

Science.gov (United States)

Vieira Neto, Eduardo; Laranjeira, Francisco; Quelhas, Dulce; Ribeiro, Isaura; Seabra, Alexandre; Mineiro, Nicole; D M Carvalho, Lilian; Lacerda, Lúcia; G Ribeiro, Márcia

2018-05-10

Phenylketonuria (PKU) is an autosomal recessive disease resulting from mutations in the PAH gene. Most of the patients are compound heterozygotes, and genotype is a major factor in determining the phenotypic variability of PKU. More than 1,000 variants have been described in the PAH gene. Rio de Janeiro's population has a predominance of Iberian, followed by African and Amerindian ancestries. It is expected that most PKU variants in this Brazilian state have originated in the Iberian Peninsula. However, rare European, African or pathogenic variants that are characteristic of the admixed population of the state might also be found. A total of 102 patients were included in this study. Genomic DNA was isolated from dried blood spots. Sanger sequencing was used for PAH gene variant identification. Deletions and duplications were also screened using MLPA analysis. Haplotypes were also determined. Nine (8.8%) homozygous and 93 (91.2%) compound heterozygous patients were found. The spectrum included 37 causative mutations. Missense, nonsense, and splicing pathogenic variants corresponded to 63.7%, 2.9%, and 22.6% of the mutant alleles, respectively. Large (1.5%), and small deletions, inframe (5.4%) and with frameshift (3.9%), comprised the remainder. The most frequent pathogenic variants were: p.V388M (12.7%), p.R261Q (11.8%), IVS10-11G>A (10.3%), IVS2+5G>C (6.4%), p.S349P (6.4%), p.R252W (5.4%), p.I65T (4.4%), p.T323del (4.4%), and p.P281L (3.4%). One novel variant was detected: c.934G>T (p.G312C) [rs763115697]. The three most frequent pathogenic variants in our study (34.8% of the alleles) were also the most common in other Brazilian states, Portugal, and Spain (p.V388M, p.R261Q, IVS10-11G>A), corroborating that the Iberian Peninsula is the major source of PAH mutations in Rio de Janeiro. Pathogenic variants that have other geographical origins, such IVS2+5G>C, p.G352Vfs*48, and IVS12+1G>A were also detected. Genetic drift and founder effect may have also played a role

Advanced ceramics in Brazil: actual stage and perspectives

International Nuclear Information System (INIS)

Zanotto, E.D.

1986-11-01

The development of advanced ceramics in Brazil, the perspectives of the world and Brazilian markets, the raw materials, the equipments for industry and research, the human resources, and the disposable technology, are presented. The researches on advanced ceramics in Brazil initiated in the sixty decade, with the nuclear fuel development and production projets. (M.C.K.) [pt

Mutational profile of GNAQQ209 in human tumors.

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Simona Lamba

Full Text Available BACKGROUND: Frequent somatic mutations have recently been identified in the ras-like domain of the heterotrimeric G protein alpha-subunit (GNAQ in blue naevi 83%, malignant blue naevi (50% and ocular melanoma of the uvea (46%. The mutations exclusively affect codon 209 and result in GNAQ constitutive activation which, in turn, acts as a dominant oncogene. METHODOLOGY: To assess if the mutations are present in other tumor types we performed a systematic mutational profile of the GNAQ exon 5 in a panel of 922 neoplasms, including glioblastoma, gastrointestinal stromal tumors (GIST, acute myeloid leukemia (AML, blue naevi, skin melanoma, bladder, breast, colorectal, lung, ovarian, pancreas, and thyroid carcinomas. PRINCIPAL FINDINGS: We detected the previously reported mutations in 6/13 (46% blue naevi. Changes affecting Q209 were not found in any of the other tumors. Our data indicate that the occurrence of GNAQ mutations display a unique pattern being present in a subset of melanocytic tumors but not in malignancies of glial, epithelial and stromal origin analyzed in this study.

The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients.

Science.gov (United States)

Zhao, Yang; Hosono, Katsuhiro; Suto, Kimiko; Ishigami, Chie; Arai, Yuuki; Hikoya, Akiko; Hirami, Yasuhiko; Ohtsubo, Masafumi; Ueno, Shinji; Terasaki, Hiroko; Sato, Miho; Nakanishi, Hiroshi; Endo, Shiori; Mizuta, Kunihiro; Mineta, Hiroyuki; Kondo, Mineo; Takahashi, Masayo; Minoshima, Shinsei; Hotta, Yoshihiro

2014-09-01

Retinitis pigmentosa (RP) is a highly heterogeneous genetic disease. The USH2A gene, which accounts for approximately 74-90% of Usher syndrome type 2 (USH2) cases, is also one of the major autosomal recessive RP (arRP) causative genes among Caucasian populations. To identify disease-causing USH2A gene mutations in Japanese RP patients, all 73 exons were screened for mutations by direct sequencing. In total, 100 unrelated Japanese RP patients with no systemic manifestations were identified, excluding families with obvious autosomal dominant inheritance. Of these 100 patients, 82 were included in this present study after 18 RP patients with very likely pathogenic EYS (eyes shut homolog) mutations were excluded. The mutation analysis of the USH2A revealed five very likely pathogenic mutations in four patients. A patient had only one very likely pathogenic mutation and the others had two of them. Caucasian frequent mutations p.C759F in arRP and p.E767fs in USH2 were not found. All the four patients exhibited typical clinical features of RP. The observed prevalence of USH2A gene mutations was approximately 4% among Japanese arRP patients, and the profile of the USH2A gene mutations differed largely between Japanese patients and previously reported Caucasian populations.

The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon

Energy Technology Data Exchange (ETDEWEB)

Edwards, S.J.; Gladwin, A.J.; Dixon, M.J. [Univ. of Manchester (United Kingdom)

1997-03-01

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCS locus has been mapped to human chromosome 5q31.3-32 and the mutated gene identified. In the current investigation, 25 previously undescribed mutations, which are spread throughout the gene, are presented. This brings the total reported to date to 35, which represents a detection rate of 60%. Of the mutations that have been reported to date, all but one result in the introduction of a premature-termination codon into the predicted protein, treacle. Moreover, the mutations are largely family specific, although a common 5-bp deletion in exon 24 (seven different families) and a recurrent splicing mutation in intron 3 (two different families) have been identified. This mutational spectrum supports the hypothesis that TCS results from haploin-sufficiency. 49 refs., 4 figs., 3 tabs.

HNPCC: Six new pathogenic mutations

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Epplen Joerg T

2004-06-01

Full Text Available Abstract Background Hereditary non-polyposis colorectal cancer (HNPCC is an autosomal dominant disease with a high risk for colorectal and endometrial cancer caused by germline mutations in DNA mismatch-repair genes (MMR. HNPCC accounts for approximately 2 to 5% of all colorectal cancers. Here we present 6 novel mutations in the DNA mismatch-repair genes MLH1, MSH2 and MSH6. Methods Patients with clinical diagnosis of HNPCC were counselled. Tumor specimen were analysed for microsatellite instability and immunohistochemistry for MLH1, MSH2 and MSH6 protein was performed. If one of these proteins was not detectable in the tumor mutation analysis of the corresponding gene was carried out. Results We identified 6 frameshift mutations (2 in MLH1, 3 in MSH2, 1 in MSH6 resulting in a premature stop: two mutations in MLH1 (c.2198_2199insAACA [p.N733fsX745], c.2076_2077delTG [p.G693fsX702], three mutations in MSH2 (c.810_811delGT [p.C271fsX282], c.763_766delAGTGinsTT [p.F255fsX282], c.873_876delGACT [p.L292fsX298] and one mutation in MSH6 (c.1421_1422dupTG [p.C475fsX480]. All six tumors tested for microsatellite instability showed high levels of microsatellite instability (MSI-H. Conclusions HNPCC in families with MSH6 germline mutations may show an age of onset that is comparable to this of patients with MLH1 and MSH2 mutations.

Allelopathic research in Brazil

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Manuel Reigosa

2013-12-01

Full Text Available In this article, we review allelopathy studies conducted in Brazil or involving plant species that occur in the country. Conceptions and misconceptions associated with allelopathy, as well as some international criteria to be applied in allelopathic research, are presented and discussed. We observed a sharp increase in the number of papers on this subject conducted in Brazil between 1991 and 2010. However, most studies are conducted under laboratory conditions, lack a clear hypothesis or a solid justification, and typically make use of target species that do not co-exist with the donor species under natural conditions. We also found that most studies do not take the additional steps in order to purify and identify the bioactive molecules. We recommend that further studies be conducted in order to explore the potential of plant biodiversity in Brazil. Such studies could lead to the development of new molecular structures (allelochemicals that could be used in the control of pests and weeds, thereby reducing the use of the harmful synthetic herbicides that are currently being widely employed.

Mapping of the mutations present in the genome of the Rift Valley fever virus attenuated MP12 strain and their putative role in attenuation.

Science.gov (United States)

Vialat, P; Muller, R; Vu, T H; Prehaud, C; Bouloy, M

1997-11-01

The MP12 attenuated strain of Rift Valley fever virus was obtained by 12 serial passages of a virulent isolate ZH548 in the presence of 5-fluorouracil (Caplen et al., 1985. Mutagen-directed attenuation of Rift Valley fever virus as a method for vaccine development. J. Gen. Virol., 66, 2271-2277). The comparison of the M segment of the two strains has already been reported by Takehara et al. (Takehara et al., 1989. Identification of mutations in the M RNA of a candidate vaccine strain of Rift Valley fever virus. Virology 169, 452-457). We have completed the comparison and found that altogether a total of nine, 12 and four nucleotides were changed in the L, M and S segments of the two strains, respectively. Three mutations induced amino acid changes in the L protein but none of them was located in the recognized motifs conserved among RNA dependent polymerases. In the S segment, a single change modified an amino acid in the NSs protein and in the M segment, seven of the mutations resulted in amino acid changes in each of the four encoded G1, G2, 14 kDa and 78 kDa proteins. Characterization of the MP12 virus indicated that determinants for attenuation were present in each segment and that they were introduced progressively during the 12 passages in the presence of the mutagen (Saluzzo and Smith, 1990. Use of reassortant viruses to map attenuating and temperature-sensitive mutations of the Rift Valley fever virus MP-12 vaccine. Vaccine 8, 369-375). Passages 4 and 7-9 were found to be essential for introduction of temperature-sensitive lesions and attenuation. In an attempt to correlate some of the mutations with the attenuated or temperature-sensitive phenotypes, we determined by sequencing the passage level at which the different mutations appeared. This work should help to address the question of the role of the viral gene products in Rift Valley fever pathogenesis.

Recurrent APC gene mutations in Polish FAP families

Directory of Open Access Journals (Sweden)

Pławski Andrzej

2007-12-01

Full Text Available Abstract The molecular diagnostics of genetically conditioned disorders is based on the identification of the mutations in the predisposing genes. Hereditary cancer disorders of the gastrointestinal tracts are caused by mutations of the tumour suppressor genes or the DNA repair genes. Occurrence of recurrent mutation allows improvement of molecular diagnostics. The mutation spectrum in the genes causing hereditary forms of colorectal cancers in the Polish population was previously described. In the present work an estimation of the frequency of the recurrent mutations of the APC gene was performed. Eight types of mutations occurred in 19.4% of our FAP families and these constitute 43% of all Polish diagnosed families.

Sporotrichosis in Rio de Janeiro, Brazil: Sporothrix brasiliensis is associated with atypical clinical presentations.

Science.gov (United States)

Almeida-Paes, Rodrigo; de Oliveira, Manoel Marques Evangelista; Freitas, Dayvison Francis Saraiva; do Valle, Antônio Carlos Francesconi; Zancopé-Oliveira, Rosely Maria; Gutierrez-Galhardo, Maria Clara

2014-09-01

There have been several recent changes in the taxonomy of Sporothrix schenckii as well as new observations regarding the clinical aspects of sporotrichosis. In this study, we determined the identification of the Sporothrix species associated with both classic and unusual clinical aspects of sporotrichosis observed in the endemic area of sporotrichosis in Rio de Janeiro, Brazil. To verify whether S. brasiliensis is associated with clinical manifestations of sporotrichosis, a cross-sectional study was performed in which Sporothrix isolates from 50 patients with different clinical manifestations were analyzed and their isolates were studied by phenotypic and genotypic methods. Data from these patients revealed a distinct clinical picture and therapeutic response in infections caused by Sporothrix brasiliensis (n = 45) compared to patients with S. schenckii sensu stricto (n = 5). S. brasiliensis was associated with disseminated cutaneous infection without underlying disease, hypersensitivity reactions, and mucosal infection, whereas patients with S. schenckii presented with less severe and more often localized disease, similar to the majority of previously described sporotrichosis cases. Interestingly, S. brasiliensis-infected patients overall required shorter durations of itraconazole (median 16 weeks) compared to the individuals with S. schenckii (median 24 weeks). These findings suggest that Sporothrix species are linked to different clinical manifestations of sporotrichosis and that S. brasiliensis is effectively treated with oral itraconazole.

Natural radionuclides present in the beach sands of Guarapari and Anchieta, EspÍrito Santo, Brazil

Energy Technology Data Exchange (ETDEWEB)

Aguilar, Victor J.; Takahashi, Laura C. [Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG (Brazil). Departamento de Anatomia e Imagem; Fontainha, Críssia C.P.; Santos, Talita O.; Rocha, Zildete, E-mail: crissia@gmail.com, E-mail: zildete@cdtn.br [Centro de Desenvolvimento da Tecnologia Nuclear (CDTN/CNEN-MG), Belo Horizonte, MG (Brazil)

2017-07-01

The natural radioactivity was determined in the Espírito Santo sands, in Brazil, in eight beaches from Anchieta and Guarapari. In the methodology, the sands of each beach were collected, sifted, dried in the oven, and conditioned in Marinellis. Its weight was measured on the scale, and stored for 30 days for their secular equilibrium. Then, the gamma spectrometry measurement was performed. The specific activities for each beach were calculated and the radioactive balance of the {sup 238}U and {sup 232}Th series was also studied. From the standard deviation of the estimated error (S), the chi-square distribution parameter (R{sub 2}), the coefficient of determination R{sub 2}, R-sq, and the adjusted R{sub 2}, R-sq (adj) was studied. In the results, a regression curve (fitted line plot) was performed on the quality adjustment with a 95% confidence interval for the values found in Neptune, Além, Coninhos, Onça, Três Praias, Morcego and Padres beaches. The R{sub 2} measured presented values close to 1. The beach Areia Vermelha presented a specific activity with a percentage of 98.41% in relation to the other beaches and very high activity compared to the world average. (author)

Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene

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Udhaya H Kotecha

2014-01-01

Full Text Available Background & objectives: Multiple suphphatase deficiency (MSD is an autosomal recessive disorder affecting the post translational activation of all enzymes of the sulphatase family. To date, approximately 30 different mutations have been identified in the causative gene, sulfatase modifying factor 1 (SUMF1. We describe here the mutation analysis of a case of MSD. Methods: The proband was a four year old boy with developmental delay followed by neuroregression. He had coarse facies, appendicular hypertonia, truncal ataxia and ichthyosis limited to both lower limbs. Radiographs showed dysostosis multiplex. Clinical suspicion of MSD was confirmed by enzyme analysis of four enzymes of the sulphatase group. Results: The patient was compound heterozygote for a c.451A>G (p.K151E substitution in exon 3 and a single base insertion mutation (c.690_691 InsT in exon 5 in the SUMF1 gene. The bioinformatic analysis of the missense mutation revealed no apparent effect on the overall structure. However, the mutated 151-amino acid residue was found to be adjacent to the substrate binding and the active site residues, thereby affecting the substrate binding and/or catalytic activity, resulting in almost complete loss of enzyme function. Conclusions: The two mutations identified in the present case were novel. This is perhaps the first report of an insertion mutation in SUMF1 causing premature truncation of the protein.

Homeschooling in Brazil: A Matter of Rights or a Political Debate?

Science.gov (United States)

Barbosa, Luciane Muniz Ribeiro

2016-01-01

This article presents an analysis of the right to education in Brazil in light of the growing number of Brazilian families practicing homeschooling. The debate is recent in Brazil. Here we present an analysis of international literature on homeschooling, Brazilian literature on the right to education, and an appraisal of lawsuits against Brazilian…

A new species of the genus Xanthomicrogaster Cameron (Hymenoptera: Braconidae: Microgastrinae) from Brazil

NARCIS (Netherlands)

Penteado-Dias, A.M.; Shimabukuro, P.H.F.; Achterberg, van C.

2002-01-01

One new Xanthomicrogaster species from Brazil is described, and X. fortipes Cameron, 1911, is redescribed and reported from Brazil and Suriname for the first time. A key to the species is presented as well as data about the geographical distribution in Brazil.

MUTATIONS IN CALMODULIN GENES

DEFF Research Database (Denmark)

2013-01-01

The present invention relates to an isolated polynucleotide encoding at least a part of calmodulin and an isolated polypeptide comprising at least a part of a calmodulin protein, wherein the polynucleotide and the polypeptide comprise at least one mutation associated with a cardiac disorder. The ...... the binding of calmodulin to ryanodine receptor 2 and use of such compound in a treatment of an individual having a cardiac disorder. The invention further provides a kit that can be used to detect specific mutations in calmodulin encoding genes....

Thermopower generation investment in Brazil - economic conditions

Energy Technology Data Exchange (ETDEWEB)

Moreira, Ajax; Rocha, Katia [IPEA, Inst. for Applied Economic Research of Brazilian Government, Rio de Janeiro (Brazil); David, Pedro [FURNAS Centrais Electricas: Power Utility, Rio de Janeiro (Brazil)

2004-01-01

One of the main questions in electricity market deregulation is the aptitude of private capital for investments in power generation. This is especially important in Brazil, whose load has a strong growth trend ({approx}6% per year). Thermopower is an attractive alternative for expanding generation, as it is complementary in many aspects to hydropower, which supplies most Brazil's power at a very low price most of the time, but makes the system vulnerable to seasonal water variations. This paper studies the competitiveness of thermopower generation in Brazil under current regulations; assesses under the real options theory approach the conditions for investments in thermopower generation, and finally presents and discusses a hydropower generation schedule model. (Author)

Thermopower generation investment in Brazil--economic conditions

Energy Technology Data Exchange (ETDEWEB)

Moreira, Ajax E-mail: ajax@ipea.gov.br; Rocha, Katia E-mail: katia@ipea.gov.br; David, Pedro E-mail: pdavid@furnas.com.br

2004-01-01

One of the main questions in electricity market deregulation is the aptitude of private capital for investments in power generation. This is especially important in Brazil, whose load has a strong growth trend ({approx}6% per year). Thermopower is an attractive alternative for expanding generation, as it is complementary in many aspects to hydropower, which supplies most Brazil's power at a very low price most of the time, but makes the system vulnerable to seasonal water variations. This paper studies the competitiveness of thermopower generation in Brazil under current regulations; assesses under the real options theory approach the conditions for investments in thermopower generation, and finally presents and discusses a hydropower generation schedule model.

Thermopower generation investment in Brazil--economic conditions

International Nuclear Information System (INIS)

Moreira, Ajax; Rocha, Katia; David, Pedro

2004-01-01

One of the main questions in electricity market deregulation is the aptitude of private capital for investments in power generation. This is especially important in Brazil, whose load has a strong growth trend (∼6% per year). Thermopower is an attractive alternative for expanding generation, as it is complementary in many aspects to hydropower, which supplies most Brazil's power at a very low price most of the time, but makes the system vulnerable to seasonal water variations. This paper studies the competitiveness of thermopower generation in Brazil under current regulations; assesses under the real options theory approach the conditions for investments in thermopower generation, and finally presents and discusses a hydropower generation schedule model

Ethnozoology in Brazil: current status and perspectives.

Science.gov (United States)

Alves, Rômulo Rn; Souto, Wedson Ms

2011-07-18

Ancient connections between animals and human are seen in cultures throughout the world in multiple forms of interaction with the local fauna that form the core of Ethnozoology. Historically, ethnozoological publications grew out of studies undertaken in academic areas such as zoology, human ecology, sociology and anthropology--reflecting the interdisciplinary character of this discipline. The rich fauna and cultural diversity found in Brazil, with many different species of animals being used for an extremely wide diversity of purposes by Amerindian societies (as well as the descendents of the original European colonists and African slaves), presents an excellent backdrop for examining the relationships that exist between humans and other animals. This work presents a historical view of ethnozoological research in Brazil and examines its evolution, tendencies, and future perspectives. In summary, literature researches indicated that ethnozoology experienced significant advances in recent years in Brazil, although from a qualitative point of view improvement is still needed in terms of methodological procedures, taxonomic precision, and the use of quantitative techniques. A wide range of methodologies and theories are available in different areas of learning that can be put to good use in ethnozoological approaches if the right questions are asked. The challenges to studying ethnozoology in Brazil are not insignificant, and the tendencies described in the present study may aid in defining research strategies that will maintain the quantitative growth observed in the recent years but likewise foster needed qualitative improvements.

The Mutations Associated with Dilated Cardiomyopathy

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Ruti Parvari

2012-01-01

Full Text Available Cardiomyopathy is an important cause of heart failure and a major indication for heart transplantation in children and adults. This paper describes the state of the genetic knowledge of dilated cardiomyopathy (DCM. The identification of the causing mutation is important since presymptomatic interventions of DCM have proven value in preventing morbidity and mortality. Additionally, as in general in genetic studies, the identification of the mutated genes has a direct clinical impact for the families and population involved. Identifying causative mutations immediately amplifies the possibilities for disease prevention through carrier screening and prenatal testing. This often lifts a burden of social isolation from affected families, since healthy family members can be assured of having healthy children. Identification of the mutated genes holds the potential to lead to the understanding of disease etiology, pathophysiology, and therefore potential therapy. This paper presents the genetic variations, or disease-causing mutations, contributing to the pathogenesis of hereditary DCM, and tries to relate these to the functions of the mutated genes.

The risk of extinction - the mutational meltdown or the overpopulation

OpenAIRE

Malarz, K.

2006-01-01

The phase diagrams survival-extinction for the Penna model with parameters: (mutations rate)-(birth rate), (mutation rate)-(harmful mutations threshold), (harmful mutation threshold)-(minimal reproduction age) are presented. The extinction phase may be caused by either mutational meltdown or overpopulation. When the Verhulst factor is responsible for removing only newly born babies and does not act on adults the overpopulation is avoided and only genetic factors may lead to species extinction.

The risk of extinction - the mutational meltdown or the overpopulation.

Science.gov (United States)

Malarz, Krzysztof

2007-04-01

The phase diagrams survival-extinction for the Penna model with parameters: (mutations rate)-(birth rate), (mutation rate)-(harmful mutations threshold), (harmful mutation threshold)-(minimal reproduction age) are presented. The extinction phase may be caused by either mutational meltdown or overpopulation. When the Verhulst factor is responsible for removing only newly born babies and does not act on adults the overpopulation is avoided and only genetic factors may lead to species extinction.

Elemental identification of blue paintings traces present in historic cemeteries in the São Martinho region, southern Brazil

Science.gov (United States)

Costa, Thiago G.; Richter, Fábio Andreas; Castro, Elisiana Trilha; Gonçalves, Samantha; Spudeit, Daniel A.; Micke, Gustavo A.

2018-03-01

Cemeteries are of great significance in many communities, often being considered of invaluable historical, artistic, architectural and cultural significance and thus they need to be preserved. In this regard, understanding the historical aspects and the construction techniques used is essential for their protection. The purpose of this paper is to describe historical aspects of the funerary heritage present in the region of São Martinho in southern Brazil, along with an analysis of the blue paint found in cemeteries of German colonies in the region studied. FTIR analysis suggests that the binder is composed mostly of a protein resin and a small amount of lipid. The morphology of the pigment was investigated by SEM and EDS and the spectra revealed that the major elements present in the blue pigment are Na, Al, Si and S, with an overlap in the elemental mapping, indicative of ultramarine pigments. The GC-MS results are consistent with the type of binder identified by FTIR and indicate a mixture of oils, probably from vegetal sources, and proteins.

Genetic Mutations in Cancer

Science.gov (United States)

Many different types of genetic mutations are found in cancer cells. This infographic outlines certain types of alterations that are present in cancer, such as missense, nonsense, frameshift, and chromosome rearrangements.

Identifying pathways affected by cancer mutations.

Science.gov (United States)

Iengar, Prathima

2017-12-16

Mutations in 15 cancers, sourced from the COSMIC Whole Genomes database, and 297 human pathways, arranged into pathway groups based on the processes they orchestrate, and sourced from the KEGG pathway database, have together been used to identify pathways affected by cancer mutations. Genes studied in ≥15, and mutated in ≥10 samples of a cancer have been considered recurrently mutated, and pathways with recurrently mutated genes have been considered affected in the cancer. Novel doughnut plots have been presented which enable visualization of the extent to which pathways and genes, in each pathway group, are targeted, in each cancer. The 'organismal systems' pathway group (including organism-level pathways; e.g., nervous system) is the most targeted, more than even the well-recognized signal transduction, cell-cycle and apoptosis, and DNA repair pathway groups. The important, yet poorly-recognized, role played by the group merits attention. Pathways affected in ≥7 cancers yielded insights into processes affected. Copyright © 2017 Elsevier Inc. All rights reserved.

Sequential acquisition of mutations in myelodysplastic syndromes.

Science.gov (United States)

Makishima, Hideki

2017-01-01

Recent progress in next-generation sequencing technologies allows us to discover frequent mutations throughout the coding regions of myelodysplastic syndromes (MDS), potentially providing us with virtually a complete spectrum of driver mutations in this disease. As shown by many study groups these days, such driver mutations are acquired in a gene-specific fashion. For instance, DDX41 mutations are observed in germline cells long before MDS presentation. In blood samples from healthy elderly individuals, somatic DNMT3A and TET2 mutations are detected as age-related clonal hematopoiesis and are believed to be a risk factor for hematological neoplasms. In MDS, mutations of genes such as NRAS and FLT3, designated as Type-1 genes, may be significantly associated with leukemic evolution. Another type (Type-2) of genes, including RUNX1 and GATA2, are related to progression from low-risk to high-risk MDS. Overall, various driver mutations are sequentially acquired in MDS, at a specific time, in either germline cells, normal hematopoietic cells, or clonal MDS cells.

Diversity of ARSACS mutations in French-Canadians.

Science.gov (United States)

Thiffault, I; Dicaire, M J; Tetreault, M; Huang, K N; Demers-Lamarche, J; Bernard, G; Duquette, A; Larivière, R; Gehring, K; Montpetit, A; McPherson, P S; Richter, A; Montermini, L; Mercier, J; Mitchell, G A; Dupré, N; Prévost, C; Bouchard, J P; Mathieu, J; Brais, B

2013-01-01

The growing number of spastic ataxia of Charlevoix-Saguenay (SACS) gene mutations reported worldwide has broadened the clinical phenotype of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The identification of Quebec ARSACS cases without two known SACS mutation led to the development of a multi-modal genomic strategy to uncover mutations in this large gene and explore phenotype variability. Search for SACS mutations by combining various methods on 20 cases with a classical French-Canadian ARSACS phenotype without two mutations and a group of 104 sporadic or recessive spastic ataxia cases of unknown cause. Western blot on lymphoblast protein from cases with different genotypes was probed to establish if they still expressed sacsin. A total of 12 mutations, including 7 novels, were uncovered in Quebec ARSACS cases. The screening of 104 spastic ataxia cases of unknown cause for 98 SACS mutations did not uncover carriers of two mutations. Compounds heterozygotes for one missense SACS mutation were found to minimally express sacsin. The large number of SACS mutations present even in Quebec suggests that the size of the gene alone may explain the great genotypic diversity. This study does not support an expanding ARSACS phenotype in the French-Canadian population. Most mutations lead to loss of function, though phenotypic variability in other populations may reflect partial loss of function with preservation of some sacsin expression. Our results also highlight the challenge of SACS mutation screening and the necessity to develop new generation sequencing methods to ensure low cost complete gene sequencing.

Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.

Science.gov (United States)

Atik, Tahir; Aykut, Ayca; Hazan, Filiz; Onay, Huseyin; Goksen, Damla; Darcan, Sukran; Tukun, Ajlan; Ozkinay, Ferda

2016-06-01

To evaluate the spectrum of PTPN11 gene mutations in Noonan syndrome patients and to study the genotype-phenotype associations. In this study, twenty Noonan syndrome patients with PTPN11 mutations were included. The patients underwent a detailed clinical and physical evaluation. To identify inherited cases, parents of all mutation positive patients were analyzed. Thirteen different PTPN11 mutations, two of them being novel, were detected in the study group. These mutations included eleven missense mutations: p.G60A, p.D61N, p.Y62D, p.Y63C, p.E69Q, p.Q79R, p.Y279C,p.N308D, p.N308S, p.M504V, p.Q510R and two novel missense mutations: p.I56V and p.I282M. The frequency of cardiac abnormalities and short stature were found to be 80 % and 80 %, respectively. Mental retardation was not observed in patients having exon 8 mutations. No significant correlations were detected between other phenotypic features and genotypes. By identifying genotype-phenotype correlations, this study provides information on phenotypes observed in NS patients with different PTPN11 mutations.

PREFACE: Brazil MRS Meeting 2014

Science.gov (United States)

2015-11-01

The annual meetings, organized by the Brazilian materials research society - B-MRS, are amongst the most import discussion forums in the area of materials science and engineering in Brazil, with a growing interest from the national and international scientific society. In the last 4 years, more than 1,500 participants have attended the B-MRS meetings, promoting an auspicious environment for presentation and discussion of scientific and technological works in the materials science area. The XIII Brazilian Materials Research Society Meeting was held from 28 September to 02 October, 2014, in João Pessoa, PB, Brazil. The Meeting congregated more than 1650 participants from the whole of Brazil and from 28 other countries. More than 2100 abstracts were accepted for presentation, distributed along 19 Symposia following the format used in traditional meetings of Materials Research Societies. These involved topics such as: synthesis of new materials, computer simulations, optical, magnetic and electronic properties, traditional materials as clays and cements, advanced metals, carbon and graphene nanostructures, nanomaterials for nanostructures, energy storage systems, composites, surface engineering and others. A novelty was a symposium dedicated to innovation and technology transfer in materials research. The program also included 7 Plenary Lectures presented by internationally renowned researchers: Alberto Salleo from Stanford University, United States of America; Roberto Dovesi from Universita' degli Studi di Torino, Italy; Luís Antonio F. M. Dias Carlos from Universidade de Aveiro, Portugal; Jean Marie Dubois from Institut Jean-Lamour, France; Sir Colin Humphreys from University of Cambridge, England; Karl Leo from Technische Universität Dresden, Germany; Robert Chang from Northwestern University, Evanston, United States of America. The numbers of participants in the B-MRS meetings have been growing continuously, and in this meeting we had almost 2200 presentations

Prevalent mutations in fatty acid oxidation disorders

DEFF Research Database (Denmark)

Gregersen, N; Andresen, B S; Bross, P

2000-01-01

UNLABELLED: The mutational spectrum in a given disease-associated gene is often comprised of a large number of different mutations, of which a single or a few are present in a large proportion of diseased individuals. Such prevalent mutations are known in four genes of the fatty acid oxidation...... of the disease in question and determination of the carrier frequency in the general population may help in elucidating the penetrance of the genotype. This is exemplified in disorders of mitochondrial fatty acid oxidation....

A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation

Directory of Open Access Journals (Sweden)

Marco Ceccanti

2016-11-01

Full Text Available Tangier disease is an autosomal recessive disorder characterized by severe reduction in HDL-cholesterol and peripheral lipid storage. We describe a family with c.5094C>A p.Tyr16980* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyelinating multineuropathy and reduction in intraepidermal small fibers innervation. In the proband patient, cardiac involvement determined a myocardial infarction; lipid storage was demonstrated in gut, cornea and aortic wall. The reported ABCA1 mutation has never been described before in a Tangier family.

Presentation of hemophagocytic lymphohistiocytosis due to a novel MUNC 13–4 mutation masked by partial therapeutic immunosuppression

Directory of Open Access Journals (Sweden)

Garrett Jackie P-D

2012-05-01

Full Text Available Abstract Hemophagocytic lymphohistiocytosis is a potentially fatal disease characterized by excessive macrophage and lymphocyte activity. Patients can be affected following immune activation after an oncologic, autoimmune or infectious trigger. An associated gene mutation may be found which impairs cytolytic lymphocyte function. We describe a pediatric case of hemophagocytic lymphohistiocytosis with a novel mutation of MUNC 13–4 whose diagnosis was confounded by concurrent immunosuppression. Clinical reassessment for hemophagocytic lymphohistiocytosis is necessary in persistently febrile patients with laboratory derangements in the setting of immunosuppressive agent exposure.

The use of FTA cards for transport and detection of gyrA mutation of Campylobacter jejuni from poultry.

Science.gov (United States)

Sierra-Arguello, Y M; Faulkner, O; Tellez, G; Hargis, B M; Pinheiro do Nascimento, V

2016-04-01

The purpose of the present study was to evaluate a technique involving the use of commercially available FTA classic card (Whatman) for transporting and detection of DNA to use in PCR analysis and genetic sequencing of Campylobacter jejuni of poultry origin. Fifty isolates of Campylobacter jejuni were obtained from broiler carcasses in Rio Grande do Sul, Brazil. Antimicrobial susceptibility testing to ciprofloxacin revealed that all 50 isolates were resistant to ciprofloxacin. Each isolate was transferred to Brucella broth tubes and incubated overnight at 41.5°C. Cell cultures were diluted to match a McFarland Turbidity Standard 0.5, and 110 μL of the cell suspension were applied to one circle on Whatman FTA classic cards. The samples were then covered and allowed to dry at room temperature. Cards were identified and stored at room temperature until further use (3 mo after collection). FTA cards were shipped for analysis to the Department of Poultry Science, University of Arkansas. Amplification of the Campylobacter gyrA gene was successful and demonstrated strong bands for a large amplicon for all 50 samples preserved on FTA cards. Mutations present in each gene were confirmed by DNA sequencing. Then, 7 samples were chosen for the sequencing. The detection of a mutation regarding ciprofloxacin-resistant isolates revealed that 7 samples had a mutation in the gyrA gene. In conclusion, the characteristics of the profiles suggest that the DNA has maintained its integrity after 3 mo of storage at room temperature and is a suitable template for PCR and sequencing from Campylobacter samples. The application of this technology has potential in numerous methodologies, especially when working in remote areas and in developing countries where access to laboratory facilities and equipment is limited. © 2016 Poultry Science Association Inc.

Creutzfeldt-Jakob Disease with a prion protein gene codon 180 mutation presenting asymmetric cortical high-intensity on magnetic resonance imaging.

Science.gov (United States)

Amano, Yuko; Kimura, Noriyuki; Hanaoka, Takuya; Aso, Yasuhiro; Hirano, Teruyuki; Murai, Hiroyuki; Satoh, Katsuya; Matsubara, Etsuro

2015-01-01

Here we report a genetically confirmed case of Creutzfeldt-Jakob disease with a prion protein gene codon 180 mutation presenting atypical magnetic resonance imaging findings. The present case exhibited an acute onset and lateralized neurologic signs, and progressive cognitive impairment. No myoclonus or periodic synchronous discharges on electroencephalography were observed. Diffusion-weighted images revealed areas of high signal intensity in the right frontal and temporal cortices at onset that extended to the whole cortex and basal ganglia of the right cerebral hemisphere at 3 months. Although the cerebrospinal fluid (CSF) was initially negative for neuron specific enolase, tau protein, 14-3-3 protein, and abnormal prion protein, the CSF was positive for these brain-derived proteins at 3 months after onset.

MPL mutation profile in JAK2 mutation-negative patients with myeloproliferative disorders.

Science.gov (United States)

Ma, Wanlong; Zhang, Xi; Wang, Xiuqiang; Zhang, Zhong; Yeh, Chen-Hsiung; Uyeji, Jennifer; Albitar, Maher

2011-03-01

Mutations in the thrombopoietin receptor gene (myeloproliferative leukemia, MPL) have been reported in patients with JAK2 V617F-negative chronic myeloproliferative disorders (MPDs). We evaluated the prevalence of MPL mutations relative to JAK2 mutations in patients with suspected MPDs. A total of 2790 patient samples submitted for JAK2 mutation analysis were tested using real-time polymerase chain reaction and bidirectional sequencing of plasma RNA. JAK2 V617F-negative samples were tested for JAK2 exons 12 to 14 mutations, and those with negative results were then tested for mutations in MPL exons 10 and 11. Of the 2790 patients, 529 (18.96%) had V617F, 12 (0.43%) had small insertions or deletions in exon 12, and 7 (0.25%) had other JAK2 mutations in exons 12 to 14. Of the 2242 JAK2 mutation-negative patients, 68 (3.03%) had MPL mutations. W515L was the predominant MPL mutation (n=46; 68%), and 10 (15%) patients had other W515 variants. The remaining MPL mutations (n=12, 17%) were detected at other locations in exons 10 and 11 and included 3 insertion/deletion mutations. The S505N mutation, associated with familial MPD, was detected in 3 patients. Overall, for every 100 V617F mutations in patients with suspected MPDs, there were 12.9 MPL mutations, 2.3 JAK2 exon 12 mutations, and 1.3 JAK2 exons 13 to 14 mutations. These findings suggest that MPL mutation screening should be performed before JAK2 exons 12 to 14 testing in JAK2 V617F-negative patients with suspected MPDs.

Progranulin mutations as risk factors for Alzheimer disease.

Science.gov (United States)

Perry, David C; Lehmann, Manja; Yokoyama, Jennifer S; Karydas, Anna; Lee, Jason Jiyong; Coppola, Giovanni; Grinberg, Lea T; Geschwind, Dan; Seeley, William W; Miller, Bruce L; Rosen, Howard; Rabinovici, Gil

2013-06-01

Mutations in the progranulin gene are known to cause diverse clinical syndromes, all attributed to frontotemporal lobar degeneration. We describe 2 patients with progranulin gene mutations and evidence of Alzheimer disease (AD) pathology. We also conducted a literature review. This study focused on case reports of 2 unrelated patients with progranulin mutations at the University of California, San Francisco, Memory and Aging Center. One patient presented at age 65 years with a clinical syndrome suggestive of AD and showed evidence of amyloid aggregation on positron emission tomography. Another patient presented at age 54 years with logopenic progressive aphasia and, at autopsy, showed both frontotemporal lobar degeneration with TDP-43 inclusions and AD. In addition to autosomal-dominant frontotemporal lobar degeneration, mutations in the progranulin gene may be a risk factor for AD clinical phenotypes and neuropathology.

MPL W515L/K Mutations in Chronic Myeloproliferative Neoplasms.

Science.gov (United States)

Akpınar, Timur Selçuk; Hançer, Veysel Sabri; Nalçacı, Meliha; Diz-Küçükkaya, Reyhan

2013-03-01

The MPL gene encodes the thrombopoietin receptor. Recently MPL mutations (MPL W515L or MPL W515K) were described in patients with essential thrombocythemia (ET) and primary (idiopathic) myelofibrosis (PMF). The prevalence and the clinical importance of these mutations are not clear. In the present study, we aimed to investigate the frequency and clinical significance of MPL W515L/K mutations in our patients with ET and PMF. A total of 77 patients (66 were diagnosed with ET and 11 with PMF) and 42 healthy controls were included in the study. Using peripheral blood samples, the presence of MPL W515L/K mutations and JAK-2 V617F mutation were analyzed by real-time polymerase chain reaction. In our study, MPL W515L/K or JAK-2 V617F mutations were not observed in healthy controls. JAK-2 V617F mutation was present in 35 patients, of whom 29 had ET (43.9%, 29/66) and 6 had PMF (54.5%, 6/11). In the patient group, MPL W515L/K mutations were found in only 2 PMF cases, and these cases were negative for JAK-2 V617F mutation. The prevalence of MPL W515L/K mutations in the patient group was 2.6%, and the prevalence of MPL W515L/K mutations among the cases negative for the JAK-2 V617F mutation was found to be 4.8%. The 2 cases with MPL W515L/K mutations had long follow-up times (124 months and 71 months, respectively), had no thrombotic or hemorrhagic complications, and had no additional cytogenetic anomalies. MPL W515L/K mutations may be helpful for identifying clonal disease in MPN patients with no established Ph chromosome or JAK-2 V617F mutation. None declared.

ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia

DEFF Research Database (Denmark)

Tørring, Pernille M; Kjeldsen, Anette D; Ousager, Lilian Bomme

2018-01-01

mutation using Sanger sequencing. Analyzing her DNA by NGS HHT panel sequencing when extracted from both peripheral blood leukocytes, and cheek swabs, identified the familial ENG mutation at low levels. CONCLUSION: We provide evidence of ENG mutational mosaicism in an individual presenting with clinical...

Insecticide resistance in Aedes aegypti populations from Ceará, Brazil

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Goulart Marilia OF

2011-01-01

Full Text Available Abstract Background Organophosphates and pyrethroids are used widely in Brazil to control Aedes aegypti, the main vector of dengue viruses, under the auspices of the National Programme for Dengue Control. Resistance to these insecticides is widespread throughout Brazil. In Ceará the vector is present in 98% of districts and resistance to temephos has been reported previously. Here we measure resistance to temephos and the pyrethroid cypermethrin in three populations from Ceará and use biochemical and molecular assays to characterise resistance mechanisms. Results Resistance to temephos varied widely across the three studied populations, with resistance ratios (RR95 of 7.2, 30 and 192.7 in Juazeiro do Norte, Barbalha and Crato respectively. The high levels of resistance detected in Barbalha and Crato (RR95 ≥ 30 imply a reduction of temephos efficacy, and indeed in simulated field tests reduced effectiveness was observed for the Barbalha population. Two populations (Crato and Barbalha were also resistant to cypermethrin, whilst Juazeiro do Norte showed only an altered susceptibility. The Ile1011Met kdr mutation was detected in all three populations and Val1016Ile in Crato and Juazeiro do Norte. 1011Met was significantly associated with resistance to cypermethrin in the Crato population. Biochemical tests showed that only the activity of esterases and GSTs, among the tested detoxification enzymes, was altered in these populations when compared with the Rockefeller strain. Conclusions Our results demonstrate that two A. aegypti populations from Ceará are under strong selection pressure by temephos, compromising the field effectiveness of this organophosphate. Our results also provide evidence that the process of reducing resistance to this larvicide in the field is difficult and slow and may require more than seven years for reversal. In addition, we show resistance to cypermethrin in two of the three populations studied, and for the first time

Progress and tendency in heavy ion irradiation mutation breeding

International Nuclear Information System (INIS)

Zhou Libin; Li Wenjian; Qu Ying; Li Ping

2008-01-01

In recent years, the intermediate energy heavy ion biology has been concerned rarely comparing to that of the low-energy ions. In this paper, we summarized the advantage of a new mutation breeding method mediated by intermediate energy heavy ion irradiations. Meanwhile, the present state of this mutation technique in applications of the breeding in grain crops, cash crops and model plants were introduced. And the preview of the heavy ion irradiations in gene-transfer, molecular marker assisted selection and spaceflight mutation breeding operations were also presented. (authors)

Immunodeficiency associated with a nonsense mutation of IKBKB

DEFF Research Database (Denmark)

Nielsen, Christian; Jakobsen, Marianne A; Larsen, Martin Jakob

2014-01-01

We report an infant of consanguineous parents of Turkish decent with a novel immunodeficiency associated with homozygosity for a nonsense mutation of the gene encoding Inhibitor of nuclear factor kappa-B (NF-κB) kinase subunit beta (IKKβ). At five months, she presented with respiratory insufficie......We report an infant of consanguineous parents of Turkish decent with a novel immunodeficiency associated with homozygosity for a nonsense mutation of the gene encoding Inhibitor of nuclear factor kappa-B (NF-κB) kinase subunit beta (IKKβ). At five months, she presented with respiratory...... no explanation before whole exome sequencing revealed a novel mutation abrogating signaling through the canonical NF-κB pathway....

HIV Drug Resistance-Associated Mutations in Antiretroviral Naïve HIV-1-Infected Latin American Children

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Luis E. Soto-Ramirez

2010-01-01

Full Text Available Our goal was to describe the presence of HIV drug resistance among HIV-1-infected, antiretroviral (ARV naïve children and adolescents in Latin America and to examine resistance in these children in relation to drug exposure in the mother. Genotyping was performed on plasma samples obtained at baseline from HIV-1-infected participants in a prospective cohort study in Brazil, Argentina, and Mexico (NISDI Pediatric Study. Of 713 HIV-infected children enrolled, 69 were ARV naïve and eligible for the analysis. At enrollment, mean age was 7.3 years; 81.2% were infected with HIV perinatally. Drug resistance mutations (DRMs were detected in 6 (8.7%; 95% confidence interval 3.1–18.2% ARV-naïve subjects; none of the mothers of these 6 received ARVs during their pregnancies and none of the children received ARV prophylaxis. Reverse transcriptase mutations K70R and K70E were detected in 3 and 2 subjects, respectively; protease mutation I50 V was detected in 1 subject. Three of the 6 children with DRMs initiated ARV therapy during followup, with a good response in 2. The overall rate of primary drug resistance in this pediatric HIV-infected population was low, and no subjects had more than 1 DRM. Mutations associated with resistance to nucleoside reverse transcriptase inhibitors were the most prevalent.

Germ-line origins of mutation in families with hemophilia B: The sex ratio varies with the type of mutation

Energy Technology Data Exchange (ETDEWEB)

Ketterling, R.P.; Vielhaber, E.; Bottema, C.D.K.; Schaid, D.J.; Sommer, S.S. (Mayo Clinic/Foundation, Rochester, MN (United States)); Cohen, M.P. (Vanderbilt Univ., Nashville, TN (United States)); Sexauer, C.L. (Children' s Hospital, Oklahoma City, OK (United States))

1993-01-01

Previous epidemiological and biochemical studies have generated conflicting estimates of the sex ratio of mutation. Direct genomic sequencing in combination with haplotype analysis extends previous analyses by allowing the precise mutation to be determined in a given family. From analysis of the factor IX gene of 260 consecutive families with hemophilia B, the authors report the germ-line origin of mutation in 25 families. When combined with 14 origins of mutation reported by others and with 4 origins previously reported by them, a total of 25 occur in the female germ line, and 18 occur in the male germ line. The excess of germ-line origins in females does not imply an overall excess mutation rate per base pair in the female germ line. Bayesian analysis of the data indicates that the sex ratio varies with the type of mutation. The aggregate of single-base substitutions shows a male predominance of germ-line mutations (P < .002). The maximum-likelihood estimate of the male predominance is 3.5-fold. Of the single-base substitutions, deletions display a sex ratio of unity. Analysis of the parental age at transmission of a new mutation suggests that germ-line mutations are associated with a small increase in parental age in females but little, if any, increase in males. Although direct genomic sequencing offers a general method for defining the origin of mutation in specific families, accurate estimates of the sex ratios of different mutational classes require large sample sizes and careful correction for multiple biases of ascertainment. The biases in the present data result in an underestimate of the enhancement of mutation in males. 62 refs., 1 fig., 5 tabs.

Initial comments on the aero geophysical information present at the B and C areas of the Itatira (Brazil) project

International Nuclear Information System (INIS)

Castro, Neivaldo Araujo de; Castelo Branco, Raimundo Mariano Gomes

1999-01-01

The aero geophysical project called Itatira,, accomplished by LASA Engenharia e Prospeccoes S.A., Between September and November/1977 through contract with NUCLEBRAS, corresponds to one of the first project of this gender accomplished in national territory. In this project were flight more than 80 000 km of linear lines, which covered approximately 38 000 km 2 on the precambrian terrains of the Ceara State, NE Brazil. For several reasons, the total area of the project was subdivided in three sub-areas (A, B and C), each one covered by a different airship (LAS, 1977). This paper presents the geophysical information and preliminary interpretations of the areas B and C that were obtained through the integrated use of the soft wares AUTOCAD r. 14, OASIS MONTAJ r.4.2 and ERMAPPER r.5.5. (author)

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.

Science.gov (United States)

Lesage, Suzanne; Patin, Etienne; Condroyer, Christel; Leutenegger, Anne-Louise; Lohmann, Ebba; Giladi, Nir; Bar-Shira, Anat; Belarbi, Soraya; Hecham, Nassima; Pollak, Pierre; Ouvrard-Hernandez, Anne-Marie; Bardien, Soraya; Carr, Jonathan; Benhassine, Traki; Tomiyama, Hiroyuki; Pirkevi, Caroline; Hamadouche, Tarik; Cazeneuve, Cécile; Basak, A Nazli; Hattori, Nobutaka; Dürr, Alexandra; Tazir, Meriem; Orr-Urtreger, Avi; Quintana-Murci, Lluis; Brice, Alexis

2010-05-15

Mutations in the leucine-rich-repeat kinase 2 (LRRK2) gene have been identified in families with autosomal dominant Parkinson's disease (PD) and in sporadic cases; the G2019S mutation is the single most frequent. Intriguingly, the frequency of this mutation in PD patients varies greatly among ethnic groups and geographic origins: it is present at <0.1% in East Asia, approximately 2% in European-descent patients and can reach frequencies of up to 15-40% in PD Ashkenazi Jews and North African Arabs. To ascertain the evolutionary dynamics of the G2019S mutation in different populations, we genotyped 74 markers spanning a 16 Mb genomic region around G2019S, in 191 individuals carrying the mutation from 126 families of different origins. Sixty-seven families were of North-African Arab origin, 18 were of North/Western European descent, 37 were of Jewish origin, mostly from Eastern Europe, one was from Japan, one from Turkey and two were of mixed origins. We found the G2019S mutation on three different haplotypes. Network analyses of the three carrier haplotypes showed that G2019S arose independently at least twice in humans. In addition, the population distribution of the intra-allelic diversity of the most widespread carrier haplotype, together with estimations of the age of G2019S determined by two different methods, suggests that one of the founding G2019S mutational events occurred in the Near East at least 4000 years ago.

A mutation in human VAP-B--MSP domain, present in ALS patients, affects the interaction with other cellular proteins.

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Mitne-Neto, M; Ramos, C R R; Pimenta, D C; Luz, J S; Nishimura, A L; Gonzales, F A; Oliveira, C C; Zatz, M

2007-09-01

Amyotrophic Lateral Sclerosis (ALS) is the most common adult-onset Motor Neuron Disease (MND), characterized by motor neurons death in the cortex, brainstem and spinal cord. Ten loci linked to Familial ALS have been mapped. ALS8 is caused by a substitution of a proline by a serine in the Vesicle-Associated Membrane Protein-Associated protein-B/C (VAP-B/C). VAP-B belongs to a highly conserved family of proteins implicated in Endoplasmic Reticulum-Golgi and intra-Golgi transport and microtubules stabilization. Previous studies demonstrated that the P56S mutation disrupts the subcellular localization of VAP-B and that this position would be essential for Unfolded Protein Response (UPR) induced by VAP-B. In the present work we expressed and purified recombinant wild-type and P56S mutant VAP-B-MSP domain for the analysis of its interactions with other cellular proteins. Our findings suggest that the P56S mutation may lead to a less stable interaction of this endoplasmic reticulum protein with at least two other proteins: tubulin and GAPDH. These two proteins have been previously related to other forms of neurodegenerative diseases and are potential key points to understand ALS8 pathogenesis and other forms of MND. Understanding the role of these protein interactions may help the treatment of this devastating disease in the future.

BRAF mutation in hairy cell leukemia

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Ahmad Ahmadzadeh

2014-09-01

Full Text Available BRAF is a serine/threonine kinase with a regulatory role in the mitogen-activated protein kinase (MAPK signaling pathway. A mutation in the RAF gene, especially in BRAF protein, leads to an increased stimulation of this cascade, causing uncontrolled cell division and development of malignancy. Several mutations have been observed in the gene coding for this protein in a variety of human malignancies, including hairy cell leukemia (HCL. BRAF V600E is the most common mutation reported in exon15 of BRAF, which is observed in almost all cases of classic HCL, but it is negative in other B-cell malignancies, including the HCL variant. Therefore it can be used as a marker to differentiate between these B-cell disorders. We also discuss the interaction between miRNAs and signaling pathways, including MAPK, in HCL. When this mutation is present, the use of BRAF protein inhibitors may represent an effective treatment. In this review we have evaluated the role of the mutation of the BRAF gene in the pathogenesis and progression of HCL.

Mechanisms of mutations in myeloproliferative neoplasms.

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Levine, Ross L

2009-12-01

In recent years, a series of studies have provided genetic insight into the pathogenesis of myeloproliferative neoplasms (MPNs). It is now known that JAK2V617F mutations are present in 90% of patients with polycythaemia vera (PV), 60% of patients with essential thrombocytosis (ET) and 50% of patients with myelofibrosis (MF). Despite the high prevalence of JAK2V617F mutations in these three myeloid malignancies, several questions remain. For example, how does one mutation contribute to the pathogenesis of three clinically distinct diseases, and how do some patients develop these diseases in the absence of a JAK2V617F mutation? Single nucleotide polymorphisms at various loci and somatic mutations, such as those in MPLW515L/K, TET2 and in exon 12 of JAK2, may also contribute to the pathogenesis of these MPNs. There are likely additional germline and somatic genetic factors important to the MPN phenotype. Additional studies of large MPN and control cohorts with new techniques will help identify these factors.

Medical and agricultural entomology in Brazil: a historical approach.

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Benchimol, J L

2008-12-01

Medical Entomology emerged in Brazil in the late nineteenth century, through the initiative of a group of physicians dedicated to researching microorganisms related to diseases of public health importance, especially yellow fever and malaria. They led the institutionalization of Bacteriology and Tropical Medicine in southeast Brazil and the sanitation of coastal cities and, subsequently, rural areas. Medical Entomology provided the professionals who would undertake campaigns against agricultural plagues, as well as the institutionalization of Agronomy and Veterinary Medicine. In the present article, I intend to show how relations between the professionals who gave life to Medical Entomology in Brazil were interwoven and to illustrate their relations with entomologists in other countries. I will also present an overview of the research problems faced by Brazilian entomologists at the turn of the nineteenth century and early decades of the twentieth.

The CDC Hemophilia B mutation project mutation list: a new online resource.

Science.gov (United States)

Li, Tengguo; Miller, Connie H; Payne, Amanda B; Craig Hooper, W

2013-11-01

Hemophilia B (HB) is caused by mutations in the human gene F9. The mutation type plays a pivotal role in genetic counseling and prediction of inhibitor development. To help the HB community understand the molecular etiology of HB, we have developed a listing of all F9 mutations that are reported to cause HB based on the literature and existing databases. The Centers for Disease Control and Prevention (CDC) Hemophilia B Mutation Project (CHBMP) mutation list is compiled in an easily accessible format of Microsoft Excel and contains 1083 unique mutations that are reported to cause HB. Each mutation is identified using Human Genome Variation Society (HGVS) nomenclature standards. The mutation types and the predicted changes in amino acids, if applicable, are also provided. Related information including the location of mutation, severity of HB, the presence of inhibitor, and original publication reference are listed as well. Therefore, our mutation list provides an easily accessible resource for genetic counselors and HB researchers to predict inhibitors. The CHBMP mutation list is freely accessible at http://www.cdc.gov/hemophiliamutations.

Proceedings of the 3. Workshop on Nuclear Physics in Brazil

International Nuclear Information System (INIS)

1980-01-01

This publication is the final report of the III Workshop on Nuclear Physics in Brazil. Many works were presented on the fields related to Nuclear Physics. It was organized some work groups which discussed the following topics: Perspectivas of Nuclear Physics in Brazil, Personnel Formation and Related Instrumentation. (A.C.A.S.) [pt

Clinical phenotype of 5 females with a CDKL5 mutation.

Science.gov (United States)

Stalpers, Xenia L; Spruijt, Liesbeth; Yntema, Helger G; Verrips, Aad

2012-01-01

Mutations in the X-linked cyclin dependent kinase like 5 (CDKL5) gene have been reported in approximately 80 patients since the first description in 2003. The clinical presentation partly corresponds with Rett syndrome, considering clinical features as intellectual disability, hypotonia, and poor visual, language, and motor development. However, these patients do not meet the consensus criteria for Rett syndrome since they lack the clear period of regression. Furthermore, in contrast to Rett syndrome, patients with CDKL5 mutations, have seizures or infantile spasms starting in the first weeks of life. We present clinical phenotype of 5 girls having a mutation in the CDKL5 gene. All mutations are novel and are pathogenic since they either lead to a frameshift in the reading frame or affect a consensus splice site. Four of the mutations are detected de novo in the affected girl.

Towards linked open gene mutations data

Science.gov (United States)

2012-01-01

Background With the advent of high-throughput technologies, a great wealth of variation data is being produced. Such information may constitute the basis for correlation analyses between genotypes and phenotypes and, in the future, for personalized medicine. Several databases on gene variation exist, but this kind of information is still scarce in the Semantic Web framework. In this paper, we discuss issues related to the integration of mutation data in the Linked Open Data infrastructure, part of the Semantic Web framework. We present the development of a mapping from the IARC TP53 Mutation database to RDF and the implementation of servers publishing this data. Methods A version of the IARC TP53 Mutation database implemented in a relational database was used as first test set. Automatic mappings to RDF were first created by using D2RQ and later manually refined by introducing concepts and properties from domain vocabularies and ontologies, as well as links to Linked Open Data implementations of various systems of biomedical interest. Since D2RQ query performances are lower than those that can be achieved by using an RDF archive, generated data was also loaded into a dedicated system based on tools from the Jena software suite. Results We have implemented a D2RQ Server for TP53 mutation data, providing data on a subset of the IARC database, including gene variations, somatic mutations, and bibliographic references. The server allows to browse the RDF graph by using links both between classes and to external systems. An alternative interface offers improved performances for SPARQL queries. The resulting data can be explored by using any Semantic Web browser or application. Conclusions This has been the first case of a mutation database exposed as Linked Data. A revised version of our prototype, including further concepts and IARC TP53 Mutation database data sets, is under development. The publication of variation information as Linked Data opens new perspectives

Towards linked open gene mutations data.

Science.gov (United States)

Zappa, Achille; Splendiani, Andrea; Romano, Paolo

2012-03-28

With the advent of high-throughput technologies, a great wealth of variation data is being produced. Such information may constitute the basis for correlation analyses between genotypes and phenotypes and, in the future, for personalized medicine. Several databases on gene variation exist, but this kind of information is still scarce in the Semantic Web framework. In this paper, we discuss issues related to the integration of mutation data in the Linked Open Data infrastructure, part of the Semantic Web framework. We present the development of a mapping from the IARC TP53 Mutation database to RDF and the implementation of servers publishing this data. A version of the IARC TP53 Mutation database implemented in a relational database was used as first test set. Automatic mappings to RDF were first created by using D2RQ and later manually refined by introducing concepts and properties from domain vocabularies and ontologies, as well as links to Linked Open Data implementations of various systems of biomedical interest. Since D2RQ query performances are lower than those that can be achieved by using an RDF archive, generated data was also loaded into a dedicated system based on tools from the Jena software suite. We have implemented a D2RQ Server for TP53 mutation data, providing data on a subset of the IARC database, including gene variations, somatic mutations, and bibliographic references. The server allows to browse the RDF graph by using links both between classes and to external systems. An alternative interface offers improved performances for SPARQL queries. The resulting data can be explored by using any Semantic Web browser or application. This has been the first case of a mutation database exposed as Linked Data. A revised version of our prototype, including further concepts and IARC TP53 Mutation database data sets, is under development.The publication of variation information as Linked Data opens new perspectives: the exploitation of SPARQL searches on

Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.

Science.gov (United States)

Schulpis, Kleopatra H; Thodi, Georgia; Iakovou, Konstantinos; Chatzidaki, Maria; Dotsikas, Yannis; Molou, Elina; Triantafylli, Olga; Loukas, Yannis L

2017-10-01

Classical galactosaemia is an inborn error of metabolism due to the deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). The aim of the study was to identify the underlying mutations in Greek patients with GALT deficiency and evaluate their psychomotor and speech development. Patients with GALT deficiency (n = 17) were picked up through neonatal screening. Mutational analysis was conducted via Sanger sequencing, while in silico analysis was used in the cases of novel missense mutations. Psychomotor speech development tests were utilized for the clinical evaluation of the patients. Eleven different mutations in the GALT gene were detected in the patient cohort, including two novel ones. The most frequent mutation was p.Q188R (c.563 A > G). As for the novel mutations, p.M298I (c.894 G > A) was identified in four out of 32 independent alleles, while p.P115S (c.343 C > T) was identified once. Psychomotor evaluation revealed that most of the patients were found in the borderline area (Peabody test), while only two had speech delay problems. The WISK test revealed three patients at borderline limits and two were at lower than normal limits. The mutational spectrum of the GALT gene in Greek patients is presented for the first time. The mutation p.Q188R is the most frequent among Greek patients. Two novel mutations were identified and their potential pathogenicity was estimated. Regarding the phenotypic characteristics, psychomotor disturbances and speech delay were mainly observed among GALT-deficient patients.

Induced mutation of Dendrobium orchid

International Nuclear Information System (INIS)

Sakinah Ariffin; Mohd Nazir Basiran

2000-01-01

Dendrobiiim orchids serve as the main orchid cut flower export of Malaysia. The wide range of colour and forms presently available in the market are obtained through hybridisation. Induced mutation breeding program was initiated on a commercial variety Dendrobium 'Sonia Kai' to explore the possibilities of obtaining new colour and forms. Matured seeds from self pollination were cultured and irradiated at 35 Gy at the protocorm-like bodies (PLBS) stage. Selection of induced mutations was done after the first flowering of the plants regenerated from the irradiated protocorms. Results showed changes in flower colour, shape and size. Most of these chances are expressed in different combinations in the petals, sepals and lip of the flowers. Thus, resulting. in a very wide spectrum of mutations. Some of these chances are not stable. To date, mutants that showed stable characteristics changes are grouped into 11 categories based on flower colour and form. These results show that the combination of its vitro technique and induced mutation can be applied in orchid breeding to produce new interesting and attractive variety for the market

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

Science.gov (United States)

Urreizti, Roser; Asteggiano, Carla; Bermudez, Marta; Córdoba, Alfonso; Szlago, Marina; Szlago, Mariana; Grosso, Carola; de Kremer, Raquel Dodelson; Vilarinho, Laura; D'Almeida, Vania; Martínez-Pardo, Mercedes; Peña-Quintana, Luís; Dalmau, Jaime; Bernal, Jaime; Briceño, Ignacio; Couce, María Luz; Rodés, Marga; Vilaseca, Maria Antonia; Balcells, Susana; Grinberg, Daniel

2006-01-01

Classical homocystinuria is due to cystathionine beta-synthase (CBS) deficiency. More than 130 mutations, which differ in prevalence and severity, have been described at the CBS gene. Mutation p.I278T is very prevalent, has been found in all European countries where it has been looked for with the exception of the Iberian peninsula, and is known to respond to vitamin B6. On the other hand, mutation p.T191M is prevalent in Spain and Portugal and does not respond to B6. We analysed 30 pedigrees from Spain, Portugal, Colombia and Argentina, segregating for homocystinuria. The p.T191M mutation was detected in patients from all four countries and was particularly prevalent in Colombia. The number of p.T191M alleles described in this study, together with those previously published, is 71. The prevalence of p.T191M among CBS mutant alleles in the different countries was: 0.75 in Colombia, 0.52 in Spain, 0.33 in Portugal, 0.25 in Venezuela, 0.20 in Argentina and 0.14 in Brazil. Haplotype analyses suggested a double origin for this mutation. No genotype-phenotype correlation other than the B6-nonresponsiveness could be established for the p.T191M mutation. Additionally, three new mutations, p.M173V, p.I429del and c.69_70+8del10, were found. The p.M173V was associated with a mild, B6-responsive, phenotype.

Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.

Science.gov (United States)

Gal, A; Veske, A; Jojart, G; Grammatico, B; Huber, B; Gu, S; del Porto, G; Senyi, K

1996-01-01

Norrie-Warburg syndrome (NWS) is a rare X-linked disorder characterized by blindness, which is invariable, deafness and mental disturbances, which are present occasionally. We describe here two novel mutations, a missense mutation (C126S) and a 1-base pair insertion (insT466/T467), together with a recurrent mutation (M1V), found in patients presenting with the classical clinical phenotype of NWS. All three mutations are likely to result in prominent structural changes of the norrin protein.

Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p.Ser36Tyr, presents with mild ectodermal dysplasia and non-infectious systemic inflammation.

Science.gov (United States)

Yoshioka, Takakazu; Nishikomori, Ryuta; Hara, Junichi; Okada, Keiko; Hashii, Yoshiko; Okafuji, Ikuo; Nodomi, Seishiro; Kawai, Tomoki; Izawa, Kazushi; Ohnishi, Hidenori; Yasumi, Takahiro; Nakahata, Tatsutoshi; Heike, Toshio

2013-10-01

Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is characterized by hypohidrosis, dental abnormalities, sparse hair, and immunodeficiency. Autosomal dominant (AD)-EDA-ID, caused by a heterozygous mutation within NFKBIA, is very rare and its clinical features remain largely unknown. This study describes a patient with AD-EDA-ID harboring a novel NFKBIA mutation who presented with mild EDA and non-infectious systemic inflammation. The clinical presentation of an AD-EDA-ID patient was described and immunological, genetic, and biochemical analyses were performed, with a focus on nuclear factor kappa B (NF-κB) activation. The patient presented with symptoms of mild EDA-ID, namely sparse hair and hypohidrosis, although a skin biopsy confirmed the presence of sweat glands. There were no dental abnormalities. The patient also suffered from non-infectious inflammation, which responded to systemic corticosteroid therapy; however, the patient remained ill. Immunological analyses revealed reduced Toll-like receptor/IL-1 (TLR/IL-1) and tumor necrosis factor (TNF) receptor family responses to various stimuli. Genetic analysis identified a de novo heterozygous missense mutation, p.Ser36Tyr, in NFKBIA, resulting in defective NFKBIA degradation and impaired NF-κB activation. The patient was diagnosed with AD-EDA-ID and underwent hematopoietic stem cell transplantation. Engraftment was successful, with few signs of acute graft versus host disease. However, the patient suffered hemolytic anemia and thrombocytopenia, and died from a brain hemorrhage due to intractable thrombocytopenia. AD-EDA-ID patients can present with mild ectodermal dysplasia and non-infectious inflammation, rather than with recurrent infections. Also, hematopoietic stem cell transplantation for AD-EDA-ID is still a clinical challenge.

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra

Directory of Open Access Journals (Sweden)

Eiman H. Al Kaabi

2016-09-01

Full Text Available The urea cycle is the main pathway for the disposal of excess nitrogen. Carbamoylphosphate synthetase 1 (CPS1, the first and rate-limiting enzyme of urea cycle, is activated by N-acetylglutamate (NAG, and thus N-acetylglutamate synthase (NAGS is an essential part of the urea cycle. Although NAGS deficiency is the rarest urea cycle disorder, it is the only one that can be specifically and effectively treated by a drug, N-carbamylglutamate, a stable structural analogous of NAG that activates CPS1. Here we report an infant with NAGS deficiency who presented with neonatal hyperammonemia. She was found to have a novel homozygous splice-site mutation, c.1097-2A>T, in the NAGS gene. We describe the clinical course of this infant, who had rapid response to N-carbamylglutamate treatment. In addition, we reviewed the clinical and molecular spectra of previously reported individuals with NAGS deficiency, which presents in most cases with neonatal hyperammonemia, and in some cases the presentation is later, with a broad spectrum of ages and manifestations. With this broad later-onset phenotypic spectrum, maintaining a high index of suspicion is needed for the early diagnosis of this treatable disease.

EGFR and KRAS mutation coexistence in lung adenocarcinomas

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Vitor Manuel Leitão de Sousa

2015-04-01

Full Text Available Lung cancer is one of the most common causes of cancer deaths. The development of EGFR targeted therapies, including monoclonal antibodies and tyrosine kinase inhibitors have generated an interest in the molecular characterization of these tumours. KRAS mutations are associated with resistance to EGFR TKIs. EGFR and KRAS mutations have been considered as mutually exclusive. This paper presents three bronchial-pulmonary carcinomas, two adenocarcinomas and one pleomorphic sarcomatoid carcinoma, harboring EGFR and KRAS mutations. Case 1 corresponded to an adenocarcinoma with EGFR exon 21 mutation (L858R and KRAS codon 12 point mutation (G12V; case 2, a  mucinous adenocarcinoma expressed coexistence of EGFR exon 21 mutation (L858R and KRAS codon 12 point mutation (G12V; and case 3 a sarcomatoid carcinoma with EGFR exon 19 deletion – del 9bp and KRAS codon 12 point mutation (G12C - cysteine. Based on our experience and on the literature, we conclude that EGFR and KRAS mutations can indeed coexist in the same bronchial-pulmonary carcinoma, either in the same histological type or in different patterns. The biological implications of this coexistence are still poorly understood mainly because these cases are not frequent or currently searched. It is therefore necessary to study larger series of cases with the two mutations to better understand the biological, clinical and therapeutic implications.

MPL W515L/K Mutations in Chronic Myeloproliferative Neoplasms

Directory of Open Access Journals (Sweden)

Timur Selçuk Akpınar

2013-03-01

Full Text Available OBJECTIVE: The MPL gene encodes the thrombopoietin receptor. Recently MPL mutations (MPL W515L or MPL W515K were described in patients with essential thrombocythemia (ET and primary (idiopathic myelofibrosis (PMF. The prevalence and the clinical importance of these mutations are not clear. In the present study, we aimed to investigate the frequency and clinical significance of MPL W515L/K mutations in our patients with ET and PMF. METHODS: A total of 77 patients (66 were diagnosed with ET and 11 with PMF and 42 healthy controls were included in the study. Using peripheral blood samples, the presence of MPL W515L/K mutations and JAK-2 V617F mutation were analyzed by real-time polymerase chain reaction. RESULTS: In our study, MPL W515L/K or JAK-2 V617F mutations were not observed in healthy controls. JAK-2 V617F mutation was present in 35 patients, of whom 29 had ET (43.9%, 29/66 and 6 had PMF (54.5%, 6/11. In the patient group, MPL W515L/K mutations were found in only 2 PMF cases, and these cases were negative for JAK-2 V617F mutation. The prevalence of MPL W515L/K mutations in the patient group was 2.6%, and the prevalence of MPL W515L/K mutations among the cases negative for the JAK-2 V617F mutation was found to be 4.8%. The 2 cases with MPL W515L/K mutations had long follow-up times (124 months and 71 months, respectively, had no thrombotic or hemorrhagic complications, and had no additional cytogenetic anomalies. CONCLUSION: MPL W515L/K mutations may be helpful for identifying clonal disease in MPN patients with no established Ph chromosome or JAK-2 V617F mutation.

Genetic variations of patients with familial or multiple melanoma in Southern Brazil.

Science.gov (United States)

Grazziotin, T C; Rey, M C W; Bica, C G; Pinto, L A; Bonamigo, R R; Puig-Butille, J A; Cuellar, F; Puig, S

2013-02-01

Patients with familial melanoma or multiple primary melanoma represent a high-risk population to hereditary melanoma. Mutations in susceptibility genes, such as CDKN2A, CDK4 and MC1R, have been associated with the development of melanoma. The purpose of this study was to determine the genotypic background of patients with familial and/or multiple melanoma in southern Brazil. This study analysed 33 cases (5 patients with multiple primary melanoma and 28 patients from families with at least two well documented cases) and 29 controls. Genomic analysis of CDKN2A and CDK4 genes by PCR-SSCP analysis and sequencing and direct sequencing of MC1R were performed in all individuals. No functional mutations in CDKN2A or CDK4 were detected in the 62 individuals. Infrequent variants in polymorphic loci of CDKN2A gene were identified in 15 participants (24.2%) and 24/33 (72.8%) cases and 19/27 (70.4%) controls reported at least one infrequent variant in MC1R (P = 0.372). Furthermore, a non-significant tendency towards an association between melanoma risk and MC1R variants G274A and C451T and a non-significant linear tendency to the number of infrequent high-risk variants in MC1R were observed. These results suggest that in southern Brazilian population, CDKN2A or CDK4 germinal alterations may have a weaker influence than previously thought and environmental risk factors may play a central role in melanoma susceptibility. However, considering the tendency observed for gene MC1R, low-penetrance genes may be a relevant aetiological factor in southern Brazil with fair skin population and high sunlight exposure. © 2012 The Authors. Journal of the European Academy of Dermatology and Venereology © 2012 European Academy of Dermatology and Venereology.

Epidermal growth factor receptor mutations in lung adenocarcinoma in Malaysian patients.

Science.gov (United States)

Liam, Chong-Kin; Wahid, Mohamed Ibrahim A; Rajadurai, Pathmanathan; Cheah, Yoke-Kqueen; Ng, Tiffany Shi-Yeen

2013-06-01

Despite available data from other Asian countries, the prevalence of epidermal growth factor receptor (EGFR) mutations among lung adenocarcinoma patients has not been reported in Malaysia. This study sought to determine the frequency of EGFR mutations among multiethnic Malaysian patients diagnosed with lung adenocarcinoma. Demographic and clinical information of patients whose lung adenocarcinoma biopsy specimens were submitted for EGFR mutation testing at Sime Darby Medical Center from 2009 to 2011 were analyzed. EGFR mutations at exons 18, 19, 20, and 21 were detected either through bidirectional sequencing or real-time polymerase chain reaction. Among 812 patients in the study, 49% were female, 63.7% were ethnic Chinese, 29.4% Malay, 4.8% Indian, and 2.1% other ethnic groups. Mutations were present in the tumors of 321 patients (39.5%), with mutations at exons 19 (23.5%) and 21 (14.9%) being the most common. Mutations were significantly more frequent among women than in men (52.5% versus 27.8%, p < 0.001). Although mutations were more common among Chinese (40.8%) compared with Malay (37.2%) or Indian (33.3%) patients, the difference was not statistically significant (p = 0.591). Of 211 patients with smoking history records, never-smokers had a higher mutation rate compared with ever-smokers (54.8% versus 20.7%, p < 0.001). EGFR mutations were present in 39.5% of patients. Mutations were more common in women and never-smokers with no differences in mutation frequency between different ethnicities. Because of the high mutation rates, reflex testing for EGFR mutation should be a routine practice for advanced lung adenocarcinoma patients in Malaysia.

Mutation breeding newsletter. No. 20

Energy Technology Data Exchange (ETDEWEB)

NONE

1982-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 17

Energy Technology Data Exchange (ETDEWEB)

NONE

1981-03-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 16

Energy Technology Data Exchange (ETDEWEB)

NONE

1980-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 8

Energy Technology Data Exchange (ETDEWEB)

NONE

1976-09-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 12

Energy Technology Data Exchange (ETDEWEB)

NONE

1978-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 10

Energy Technology Data Exchange (ETDEWEB)

NONE

1977-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 32

Energy Technology Data Exchange (ETDEWEB)

NONE

1988-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 18

Energy Technology Data Exchange (ETDEWEB)

NONE

1981-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 9

Energy Technology Data Exchange (ETDEWEB)

NONE

1977-01-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 22

Energy Technology Data Exchange (ETDEWEB)

NONE

1983-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 15

Energy Technology Data Exchange (ETDEWEB)

NONE

1980-02-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 9

International Nuclear Information System (INIS)

1977-01-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 32

International Nuclear Information System (INIS)

1988-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 15

International Nuclear Information System (INIS)

1980-02-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 14

International Nuclear Information System (INIS)

1979-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 16

International Nuclear Information System (INIS)

1980-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 12

International Nuclear Information System (INIS)

1978-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 17

International Nuclear Information System (INIS)

1981-03-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 30

International Nuclear Information System (INIS)

1987-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 18

International Nuclear Information System (INIS)

1981-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 10

International Nuclear Information System (INIS)

1977-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 8

International Nuclear Information System (INIS)

1976-09-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 11

Energy Technology Data Exchange (ETDEWEB)

NONE

1978-02-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 31

Energy Technology Data Exchange (ETDEWEB)

NONE

1988-03-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 31

International Nuclear Information System (INIS)

1988-03-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 11

International Nuclear Information System (INIS)

1978-02-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 20

International Nuclear Information System (INIS)

1982-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 19

International Nuclear Information System (INIS)

1982-01-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 13

Energy Technology Data Exchange (ETDEWEB)

NONE

1979-02-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 30

Energy Technology Data Exchange (ETDEWEB)

NONE

1987-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 19

Energy Technology Data Exchange (ETDEWEB)

NONE

1982-01-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 23

Energy Technology Data Exchange (ETDEWEB)

NONE

1983-01-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 14

Energy Technology Data Exchange (ETDEWEB)

NONE

1979-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 23

International Nuclear Information System (INIS)

1983-01-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 13

International Nuclear Information System (INIS)

1979-02-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 22

International Nuclear Information System (INIS)

1983-07-01

This issue of the Newsletter presents new reports on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Will Brazil's cars go on the wagon?

International Nuclear Information System (INIS)

Homewood, B.

1993-01-01

The use of ethanol as an alternative fuel for cars in Brazil, may shortly be reduced. Falling world oil prices have meant that ethanol, derived from sugar cane, following a fourteen year research program, has ceased to be a financially viable replacement for petrol. Although about a third of Brazil's cars are at present powered by ethanol, only substantial government subsidies could reinstate this fuel despite its reduced pollutant status. Government officials now predict that ethanol will become merely a petrol additive and production of ethanol cars will have stopped by the year 2000. (UK)

The future of energy generation sector in Brazil

International Nuclear Information System (INIS)

Assis, Gino de

2000-01-01

The importance of energy on the life of modern man is evaluated considering environmental and strategic issues. Energetic crisis that happened on the recent past of Brazil and United States of America are reviewed and analysed in the light of the particular strategic matters of each country. A tentative projection of the profile of the electrical energy generator industry of Brazil is done based on the past experiences, on the present scenario and on the future potentials. (author)

Malignant chondroblastoma presenting as a recurrent pelvic tumor with DNA aneuploidy and p53 mutation as supportive evidence of malignancy

Energy Technology Data Exchange (ETDEWEB)

Ostrowski, M.L. [Department of Pathology and Laboratory Medicine, Baylor College of Medicine, The Methodist Hospital and Texas Children' s Hospital, Houston, Texas (United States); Department of Pathology and Laboratory Medicine, Houston, TX (United States). Methodist Hospital; Johnson, M.E. [Department of Orthopedic Surgery, Baylor College of Medicine, The Methodist Hospital and Texas Children' s Hospital, Houston, Texas (United States); Truong, L.D.; Hicks, M.J.; Spjut, H.J. [Department of Pathology and Laboratory Medicine, Baylor College of Medicine, The Methodist Hospital and Texas Children' s Hospital, Houston, Texas (United States); Smith, F.E. [Department of Oncology, Baylor College of Medicine, The Methodist Hospital and Texas Children' s Hospital, Houston, Texas (United States)

1999-11-01

We report a rare case of malignant chondroblastoma, which presented in a 47-year-old man as a recurrent tumor, 18 years following wide excision of a typical pelvic chondroblastoma. Radiologic studies of the recurrent tumor showed a large, lytic, destructive lesion of the right pelvic bones and femur, with a pathologic fracture of the latter, a large pelvic soft tissue mass, and multiple pulmonary metastases. Biopsy tissue showed typical features of chondroblastoma, but also increased nuclear atypia, hyperchromasia, and pleomorphism, compared to the original tumor, and, most significantly, abnormal mitotic figures. Immunohistochemical studies of the recurrent tumor revealed p53 mutation and extensive proliferative activity, and flow cytometric studies showed DNA aneuploidy, none of which was present in the original tumor. The patient received chemotherapy and radiation, but died of disease eight months after presentation. We also review chondroblastoma in general, to assign this unusual lesion to a tumor subtype. (orig.)

Demand for fisheries products in Brazil

Directory of Open Access Journals (Sweden)

Daniel Yokoyama Sonoda

2012-10-01

Full Text Available Fish consumption per capita in Brazil is relatively modest when compared to other animal proteins. This study analyses the influence of protein prices, other food prices and population income on the fish demand in Brazil. First, the problem of fish supply in Brazil is characterized. It is followed by reviews of the relevant economic theory and methods of Almost Ideal Demand System - AIDS and their elasticity calculations. A descriptive analysis of fish demand in Brazil using the microdata called "Pesquisa de Orçamento Familiar" (Familiar Budget Research - POF 2002-2003 is presented. Finally, demand functions and their elasticities are calculated for two different cases: one considering five groups of animal proteins (Chicken; Milk and Eggs; Fish; Processed Proteins and Red Meat and other with seven groups of food categories (Cereals; Vegetables and Fruits; Milky and Eggs; Oils and Condiments; Fish; Other processed foods; and Meats. The main results are: per capita consumption of fish (4.6 kg per inhabitant per year is low in Brazil because few households consume fish. When only households with fish consumption are considered, the per capita consumption would be higher: 27.2 kg per inhabitant per year. The fish consumption in the North-East Region is concentrated in the low-income class. In the Center-South Region, the fish consumption is lower and concentrated in the intermediate income classes. The main substitutes for fish are the processed proteins and not the traditional types of meat, such as chicken and red meat.

Plant mutation breeding for crop improvement. V.2

International Nuclear Information System (INIS)

1991-01-01

This volume contains the proceedings of the final two sessions of the FAO/IAEA Symposium on Plant Mutation Breeding for Crop Improvement, focussing on mutation breeding with particular objectives and the methodology of mutation breeding. The individual contributions are indexed separately. Although a wide variety of topics is included, the emphasis is on the use of (mainly gamma) radiation to induce economically useful mutants in cereals and legumes. The results of many conventional plant breeding programs are also presented. Refs, figs and tabs

Plant mutation breeding for crop improvement. V.1

International Nuclear Information System (INIS)

1991-01-01

This volume contains the proceedings of the first two sessions of the FAO/IAEA Symposium on Plant Mutation Breeding for Crop Improvement, focussing on mutation breeding in particular countries and crop-specific mutation breeding. The individual contributions are indexed separately. Although a wide variety of topics is included, the emphasis is on the use of (mainly gamma) radiation to induce economically useful mutants in cereals and legumes. The results of many conventional plant breeding programs are also presented. Refs, figs and tabs

Progress of mutation breeding in Thailand

Energy Technology Data Exchange (ETDEWEB)

Purivirojkul, Watchara; Vithayatherarat, Pradab [Pathumthani Rice Research Center (Thailand)

2001-03-01

The objectives in rice improvement in Thailand are to improve not only for high yielding and good grain quality but also for resistance to diseases and insects and tolerance to biotic stresses. Brief history of research and progress in rice mutation breeding in Thailand is presented. It includes the varieties of method such as using gamma rays, fast neutron and chemical mutagens, for example EMS (ethylmethane sulfonate) and EI (ethylene imine) for mutation works. Among all, improvements of Pathumthani 60 for short-statured plant type, RD23 for blast resistance, Basmati 370 for short-statured plant type, and Pra Doo Daeng for short-statured plant type and awnless grain are reported. To conclude, it is important to find the adequate doses of mutagen treatments that give maximum mutation frequencies, to know the optimal treatments or proper selection methods and to have well-defined objectives to create the success of mutation breeding. (S. Ohno)

Progress of mutation breeding in Thailand

International Nuclear Information System (INIS)

Purivirojkul, Watchara; Vithayatherarat, Pradab

2001-01-01

The objectives in rice improvement in Thailand are to improve not only for high yielding and good grain quality but also for resistance to diseases and insects and tolerance to biotic stresses. Brief history of research and progress in rice mutation breeding in Thailand is presented. It includes the varieties of method such as using gamma rays, fast neutron and chemical mutagens, for example EMS (ethylmethane sulfonate) and EI (ethylene imine) for mutation works. Among all, improvements of Pathumthani 60 for short-statured plant type, RD23 for blast resistance, Basmati 370 for short-statured plant type, and Pra Doo Daeng for short-statured plant type and awnless grain are reported. To conclude, it is important to find the adequate doses of mutagen treatments that give maximum mutation frequencies, to know the optimal treatments or proper selection methods and to have well-defined objectives to create the success of mutation breeding. (S. Ohno)

ATM/RB1 mutations predict shorter overall survival in urothelial cancer.

Science.gov (United States)

Yin, Ming; Grivas, Petros; Emamekhoo, Hamid; Mendiratta, Prateek; Ali, Siraj; Hsu, JoAnn; Vasekar, Monali; Drabick, Joseph J; Pal, Sumanta; Joshi, Monika

2018-03-30

Mutations of DNA repair genes, e.g. ATM/RB1 , are frequently found in urothelial cancer (UC) and have been associated with better response to cisplatin-based chemotherapy. Further external validation of the prognostic value of ATM/RB1 mutations in UC can inform clinical decision making and trial designs. In the discovery dataset, ATM/RB1 mutations were present in 24% of patients and were associated with shorter OS (adjusted HR 2.67, 95% CI, 1.45-4.92, p = 0.002). There was a higher mutation load in patients carrying ATM/RB1 mutations (median mutation load: 6.7 versus 5.5 per Mb, p = 0.072). In the validation dataset, ATM/RB1 mutations were present in 22.2% of patients and were non-significantly associated with shorter OS (adjusted HR 1.87, 95% CI, 0.97-3.59, p = 0.06) and higher mutation load (median mutation load: 8.1 versus 7.2 per Mb, p = 0.126). Exome sequencing data of 130 bladder UC patients from The Cancer Genome Atlas (TCGA) dataset were analyzed as a discovery cohort to determine the prognostic value of ATM/RB1 mutations. Results were validated in an independent cohort of 81 advanced UC patients. Cox proportional hazard regression analysis was performed to calculate the hazard ratio (HR) and 95% confidence interval (CI) to compare overall survival (OS). ATM/RB1 mutations may be a biomarker of poor prognosis in unselected UC patients and may correlate with higher mutational load. Further studies are required to determine factors that can further stratify prognosis and evaluate predictive role of ATM/RB1 mutation status to immunotherapy and platinum-based chemotherapy.

Mutation breeding newsletter. No. 28

International Nuclear Information System (INIS)

1986-09-01

This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 24

Energy Technology Data Exchange (ETDEWEB)

NONE

1984-07-01

This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 36

Energy Technology Data Exchange (ETDEWEB)

NONE

1990-07-01

This issue of the Newsletter presents abstracts and short communications of research results on radiation and chemical induced mutation breeding projects. Positive traits such as disease resistance and increased productivity are highlighted.

Mutation breeding newsletter. No. 34

International Nuclear Information System (INIS)

1989-07-01

This issue of the Newsletter presents abstracts and short communications of research results on radiation and chemical induced mutation breeding projects. Positive traits such as disease resistance and increased productivity are highlighted

Mutation breeding newsletter. No. 34

Energy Technology Data Exchange (ETDEWEB)

NONE

1989-07-01

This issue of the Newsletter presents abstracts and short communications of research results on radiation and chemical induced mutation breeding projects. Positive traits such as disease resistance and increased productivity are highlighted.

Mutation breeding newsletter. No. 25

International Nuclear Information System (INIS)

1985-01-01

This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 28

Energy Technology Data Exchange (ETDEWEB)

NONE

1986-09-01

This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 26

International Nuclear Information System (INIS)

1985-10-01

This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 27

International Nuclear Information System (INIS)

1986-02-01

This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 24

International Nuclear Information System (INIS)

1984-07-01

This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 26

Energy Technology Data Exchange (ETDEWEB)

NONE

1985-10-01

This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 25

Energy Technology Data Exchange (ETDEWEB)

NONE

1985-01-01

This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 27

Energy Technology Data Exchange (ETDEWEB)

NONE

1986-02-01

This issue of the Newsletter presents reports and research abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 36

International Nuclear Information System (INIS)

1990-07-01

This issue of the Newsletter presents abstracts and short communications of research results on radiation and chemical induced mutation breeding projects. Positive traits such as disease resistance and increased productivity are highlighted

Apparent directional selection by biased pleiotropic mutation.

Science.gov (United States)

Tanaka, Yoshinari

2010-07-01

Pleiotropic effects of deleterious mutations are considered to be among the factors responsible for genetic constraints on evolution by long-term directional selection acting on a quantitative trait. If pleiotropic phenotypic effects are biased in a particular direction, mutations generate apparent directional selection, which refers to the covariance between fitness and the trait owing to a linear association between the number of mutations possessed by individuals and the genotypic values of the trait. The present analysis has shown how the equilibrium mean value of the trait is determined by a balance between directional selection and biased pleiotropic mutations. Assuming that genes act additively both on the trait and on fitness, the total variance-standardized directional selection gradient was decomposed into apparent and true components. Experimental data on mutation bias from the bristle traits of Drosophila and life history traits of Daphnia suggest that apparent selection explains a small but significant fraction of directional selection pressure that is observed in nature; the data suggest that changes induced in a trait by biased pleiotropic mutation (i.e., by apparent directional selection) are easily compensated for by (true) directional selection.

Stratigraphy of the Roraima Supergroup along the Brazil-Guyana border in the Guiana shield, Northern Amazonian Craton - results of the Brazil-Guyana Geology and Geodiversity Mapping Project

Directory of Open Access Journals (Sweden)

Nelson Joaquim Reis

Full Text Available ABSTRACT: The Geological and Geodiversity Mapping binational program along the Brazil-Guyana border zone allowed reviewing and integrating the stratigraphy and nomenclature of the Roraima Supergroup along the Pakaraima Sedimentary Block present in northeastern Brazil and western Guyana. The area mapped corresponds to a buffer zone of approximately 25 km in width on both sides of the border, of a region extending along the Maú-Ireng River between Mount Roraima (the triple-border region and Mutum Village in Brazil and Monkey Mountain in Guyana. The south border of the Roraima basin is overlain exclusively by effusive and volcaniclastic rocks of the Surumu Group of Brazil and its correlated equivalent the Burro-Burro Group of Guyana.

Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data.

Science.gov (United States)

Giuffrida, Fernando M A; Moises, Regina S; Weinert, Leticia S; Calliari, Luis E; Manna, Thais Della; Dotto, Renata P; Franco, Luciana F; Caetano, Lilian A; Teles, Milena G; Lima, Renata Andrade; Alves, Crésio; Dib, Sergio A; Silveiro, Sandra P; Dias-da-Silva, Magnus R; Reis, Andre F

2017-01-01

Maturity-Onset Diabetes of the Young (MODY) comprises a heterogeneous group of monogenic forms of diabetes caused by mutations in at least 14 genes, but mostly by mutations in Glucokinase (GCK) and hepatocyte nuclear factor-1 homeobox A (HNF1A). This study aims to establish a national registry of MODY cases in Brazilian patients, assessing published and unpublished data. 311 patients with clinical characteristics of MODY were analyzed, with unpublished data on 298 individuals described in 12 previous publications and 13 newly described cases in this report. 72 individuals had GCK mutations, 9 described in Brazilian individuals for the first time. One previously unpublished novel GCK mutation, Gly178Ala, was found in one family. 31 individuals had HNF1A mutations, 2 described for the first time in Brazilian individuals. Comparisons of GCK probands vs HNF1A: age 16±11 vs 35±20years; age at diagnosis 11±8 vs 21±7years; BMI 19±6 vs 25±6kg/m 2 ; sulfonylurea users 5 vs 83%; insulin users 5 vs 17%; presence of arterial hypertension 0 vs. 33%, all pMODY cases in Brazil are due to GCK mutations. In agreement with other studied populations, novel mutations are common. Only 14% of patients with familial diabetes carry a HNF1A mutation. Diagnosis of other rare forms of MODY is still a challenge in Brazilian population, as well as adequate strategies to screen individuals for molecular diagnosis. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Mutation breeding newsletter. No. 4

Energy Technology Data Exchange (ETDEWEB)

NONE

1974-08-01

This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 6

Energy Technology Data Exchange (ETDEWEB)

NONE

1975-08-01

This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 5

Energy Technology Data Exchange (ETDEWEB)

NONE

1975-02-01

This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 3

International Nuclear Information System (INIS)

1974-01-01

This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 3

Energy Technology Data Exchange (ETDEWEB)

NONE

1974-01-01

This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 29

Energy Technology Data Exchange (ETDEWEB)

NONE

1987-02-01

This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 4

International Nuclear Information System (INIS)

1974-08-01

This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 7

Energy Technology Data Exchange (ETDEWEB)

NONE

1976-01-01

This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 44

International Nuclear Information System (INIS)

1999-04-01

This issue of the Newsletter presents research reports on the role of radiation induced mutation and chemical mutagens in improving productivity, disease resistance; cold and salinity tolerance of various crops and ornamental plants

Mutation breeding newsletter. No. 1

Energy Technology Data Exchange (ETDEWEB)

NONE

1972-05-01

This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Mutation breeding newsletter. No. 29

International Nuclear Information System (INIS)

1987-02-01

This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 5

International Nuclear Information System (INIS)

1975-02-01

This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 2

International Nuclear Information System (INIS)

1973-02-01

This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 1

International Nuclear Information System (INIS)

1972-05-01

This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 6

International Nuclear Information System (INIS)

1975-08-01

This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 7

International Nuclear Information System (INIS)

1976-01-01

This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants

Mutation breeding newsletter. No. 2

Energy Technology Data Exchange (ETDEWEB)

NONE

1973-02-01

This issue of the Newsletter presents reports and rea search abstracts on mutation breeding programs using radiation or chemical mutagenesis to improve productivity, introduce disease resistance or induce morphological changes in crop plants.

Residential energy demand in Brazil

International Nuclear Information System (INIS)

Arouca, M.; Gomes, F.M.; Rosa, L.P.

1981-01-01

The energy demand in Brazilian residential sector is studied, discussing the methodology for analyzing this demand from some ideas suggested, for developing an adequate method to brazilian characteristics. The residential energy consumption of several fuels in Brazil is also presented, including a comparative evaluation with the United States and France. (author)

Molecular Clock of Neutral Mutations in a Fitness-Increasing Evolutionary Process

OpenAIRE

Kishimoto, Toshihiko; Ying, Bei-Wen; Tsuru, Saburo; Iijima, Leo; Suzuki, Shingo; Hashimoto, Tomomi; Oyake, Ayana; Kobayashi, Hisaka; Someya, Yuki; Narisawa, Dai; Yomo, Tetsuya

2015-01-01

The molecular clock of neutral mutations, which represents linear mutation fixation over generations, is theoretically explained by genetic drift in fitness-steady evolution or hitchhiking in adaptive evolution. The present study is the first experimental demonstration for the molecular clock of neutral mutations in a fitness-increasing evolutionary process. The dynamics of genome mutation fixation in the thermal adaptive evolution of Escherichia coli were evaluated in a prolonged evolution e...

The Mutational Landscape of Circulating Tumor Cells in Multiple Myeloma

Directory of Open Access Journals (Sweden)

Yuji Mishima

2017-04-01

Full Text Available The development of sensitive and non-invasive “liquid biopsies” presents new opportunities for longitudinal monitoring of tumor dissemination and clonal evolution. The number of circulating tumor cells (CTCs is prognostic in multiple myeloma (MM, but there is little information on their genetic features. Here, we have analyzed the genomic landscape of CTCs from 29 MM patients, including eight cases with matched/paired bone marrow (BM tumor cells. Our results show that 100% of clonal mutations in patient BM were detected in CTCs and that 99% of clonal mutations in CTCs were present in BM MM. These include typical driver mutations in MM such as in KRAS, NRAS, or BRAF. These data suggest that BM and CTC samples have similar clonal structures, as discordances between the two were restricted to subclonal mutations. Accordingly, our results pave the way for potentially less invasive mutation screening of MM patients through characterization of CTCs.

Spectrum of small mutations in the dystrophin coding region

Energy Technology Data Exchange (ETDEWEB)

Prior, T.W.; Bartolo, C.; Pearl, D.K. [Ohio State Univ., Columbus, OH (United States)] [and others

1995-07-01

Duchenne and Becker muscular dystrophies (DMD and BMD) are caused by defects in the dystrophin gene. About two-thirds of the affected patients have large deletions or duplications, which occur in the 5` and central portion of the gene. The nondeletion/duplication cases are most likely the result of smaller mutations that cannot be identified by current diagnostic screening strategies. We screened {approximately} 80% of the dystrophin coding sequence for small mutations in 158 patients without deletions or duplications and identified 29 mutations. The study indicates that many of the DMD and the majority of the BMD small mutations lie in noncoding regions of the gene. All of the mutations identified were unique to single patients, and most of the mutations resulted in protein truncation. We did not find a clustering of small mutations similar to the deletion distribution but found > 40% of the small mutations 3` of exon 55. The extent of protein truncation caused by the 3` mutations did not determine the phenotype, since even the exon 76 nonsense mutation resulted in the severe DMD phenotype. Our study confirms that the dystrophin gene is subject to a high rate of mutation in CpG sequences. As a consequence of not finding any hotspots or prevalent small mutations, we conclude that it is presently not possible to perform direct carrier and prenatal diagnostics for many families without deletions or duplications. 71 refs., 2 figs., 2 tabs.

Realism under Hegemony: Theorizing the Rise of Brazil

Directory of Open Access Journals (Sweden)

Kurt Weyland

2016-01-01

Full Text Available What light can international relations theory shed on how developing countries such as Brazil have achieved regional leadership and international influence? This comprehensive examination of Brazilian foreign policy over the last few decades argues that Realism provides a better account of Brazil’s strategy than Liberalism and Constructivism. Despite changes of government and regime, Brasília has persistently pursued relative political gain, especially international influence. However, because this rising country has faced an established hegemon in the form of the United States, it has not been able to employ conventionally Realist instruments and tactics. Its subordinate position in the current power constellation has forced Brazil to forego political or military confrontation and instead use economic cooperation, both with the hegemon and its weaker neighbors. Through this collaboration, Brazil hopes to derive disproportionate benefits that will enhance its relative power. By elucidating these complex calculations, the present essay explains the Realist strategy that ambitious nations such as Brazil have pursued and helps design a version of Realism that captures recent power dynamics in the international system.

Brazils Role in environmental governance: Analysis of possibilities for increased Brazil-Norway cooperation

Energy Technology Data Exchange (ETDEWEB)

Valberg, Anna Helene

2011-07-01

This report examines the role played by Brazil in connection with certain international negotiations, such as the climate negotiations and the CBD. It identifies the driving factors that have influenced environmental politics and standards in Brazil, and take note of conflicts that must be discussed when Norway is seeking expanded cooperation with Brazil. In line with the mandate, FNI identifies areas of particular interest for further collaboration between the two countries, and recommend directions for supplementary Norwegian policy-making in light of a broadened scope for Norway-Brazil interaction. In recent years, the Norwegian government has initiated an extensive process aimed at reducing emissions from deforestation and forest degradation (REDD). This is the most obvious shared environmental scope between Norway and Brazil. However, given the large body of literature that already exists on this field, this report will concentrate instead on issues more on the outskirts of the REDD discourse, such as biodiversity conservation, biofuel efficiency and challenges concerning hydropower, all of which threaten to impact negatively on the Amazonian areas. In our recommendations, we cite tangible examples to illustrate issues where we believe lessons learnt in Norway may have applicability to Brazil.(auth)

PMS2 mutations in childhood cancer.

Science.gov (United States)

De Vos, Michel; Hayward, Bruce E; Charlton, Ruth; Taylor, Graham R; Glaser, Adam W; Picton, Susan; Cole, Trevor R; Maher, Eamonn R; McKeown, Carole M E; Mann, Jill R; Yates, John R; Baralle, Diana; Rankin, Julia; Bonthron, David T; Sheridan, Eamonn

2006-03-01

Until recently, the PMS2 DNA mismatch repair gene has only rarely been implicated as a cancer susceptibility locus. New studies have shown, however, that earlier analyses of this gene have had technical limitations and also that the genetic behavior of mutant PMS2 alleles is unusual, in that, unlike MLH1 or MSH2 mutations, PMS2 mutations show low heterozygote penetrance. As a result, a dominantly inherited cancer predisposition has not been a feature reported in families with PMS2 mutations. Such families have instead been ascertained through childhood-onset cancers in homozygotes or through apparently sporadic colorectal cancer in heterozygotes. We present further information on the phenotype associated with homozygous PMS2 deficiency in 13 patients from six families of Pakistani origin living in the United Kingdom. This syndrome is characterized by café-au-lait skin pigmentation and a characteristic tumor spectrum, including leukemias, lymphomas, cerebral malignancies (such as supratentorial primitive neuroectodermal tumors, astrocytomas, and glioblastomas), and colorectal neoplasia with an onset in early adult life. We present evidence for a founder effect in five families, all of which carried the same R802-->X mutation (i.e., arginine-802 to stop) in PMS2. This cancer syndrome can be mistaken for neurofibromatosis type 1, with important management implications including the risk of the disorder occurring in siblings and the likelihood of tumor development in affected individuals.

Women's motivation to become dentists in Brazil.

Science.gov (United States)

Kfouri, Maria G; Moyses, Samuel J; Moyses, Simone Tetu

2013-06-01

There has been a marked increase of women in dentistry in Brazil and in many countries around the world. The behavioral mechanisms behind the choice of career differ between men and women, and the inclination to care for others is thought by some to be more present in women than it is in men. This article discusses the reasons that lead women to choose dentistry as a profession in Brazil and the impact of feminization on the current and future profile of the profession, based on the ethics of care. The authors' review of the relevant literature published between 2000 and 2011, primarily in Brazil, suggests that whereas men have tended to choose dentistry as a good business opportunity, women have tended to base their decision on relations with other people and the flexibility of practicing the profession. Many women dentists have been found to decide to work fewer hours, report more interruptions in their activities, and have less preference to work in private practice than men dentists. In the view of service users and dental auxiliaries in Brazil, women dentists invest more time in their patients and communicate in a more pleasant, sensitive, and friendly manner. The conclusion suggests that characteristics often associated with women can affect the dental profession in Brazil by introducing greater concern with the promotion of health and other people's well-being in contrast to traditional dentistry based on curative procedures.

EG-08IDH MUTATIONS IN GLIOMAS ASSOCIATED WITH ENCHONDROMATOSIS

Science.gov (United States)

Nicholas, M. Kelly; Joseph, Loren; Venneti, Sriram; Daher, Ahmad; Pytel, Peter

2014-01-01

The enchondromatoses, Ollier's disease and Maffucci syndrome, are non-heritable developmental disorders characterized by multiple enchondromas (Olllier's) in association with hemangiomas (Maffucci). Glial neoplasms are reported in both disorders but a pathogenic mechanism underlying this association has not been identified. We report a case of anaplastic astrocytoma in a 23 year old man with Maffucci syndrome whose tumor carried a substitution mutation of arginine for cysteine at position 132 (R132C) of the isocitrate dehydrogenase 1 (IDH1) protein. This mutation, commonly found in Maffucci-associated enchondromas and hemangiomas, was not detected on routine immunohistochemical (IHC) analysis of the astrocytoma using the R132H mutation-specific antibody, commonly applied in clinical laboratories. The R132C mutation was detected by polymerase chain reaction (PCR) and subsequently confirmed using a SNaPshot assay. Because somatic mosaic IDH mutations are associated with enchondromas and hemangiomas in Maffucci syndrome, we looked for the R132C mutation in a hemangioma, peripheral blood mononuclear cells (PBMNC) and histologically normal brain surrounding the tumor from this patient. The mutation was present in the hemangioma, absent in PBMNC, and present in 2% of alleles in ‘normal’ brain. The low level in surrounding brain tissue is consistent with tumor cell infiltration, not mosaicism, as a S173T p53 mutation in the tumor showed similar results. Using IHC, we further demonstrated that the mutant IDH1 protein in this glioma functions as an oncometabolite. Two repressive histone trimethylation marks were strongly positive in the tumor, supporting a role for 2-hydroxyglutarate in the inhibition of histone demethylation. Together, these data demonstrate that an IDH1 mutation common in enchodromatoses underlies the association of glial tumors reported in both Ollier's disease and Maffucci syndrome.

Mutation breeding in jute

International Nuclear Information System (INIS)

Joshua, D.C.

1980-01-01

Mutagenic studies in jute in general dealt with the morphological abnormalities of the M 1 generation in great detail. Of late, induction of a wide spectrum of viable mutations have been reported in different varieties of both the species. Mutations affecting several traits of agronomic importance such as, plant height, time of flowering, fibre yield and quality, resistance to pests and diseases are also available. Cytological analysis of a large collection of induced mutants resulted in the isolation of seven trisomics in an olitorius variety. Several anatomical parameters which are the components of fibre yield, have also received attention. Some mutants with completely altered morphology were used for interpreting the evolution of leaf shape in Tiliaceas and related families. A capsularis variety developed using mutation breeding technique has been released for cultivation. Several others, including derivatives of inter-mutant hybridization have been found to perform well at different locations in the All India Coordinated Trials. Presently, chemical mutagenesis and induction of mutants of physiological significance are receiving considerable attention. The induced variability is being used in genetic and linkage studies. (author)

IHY activities in Brazil

Science.gov (United States)

Dal Lago, Alisson

The International Heliophysical Year is a program of international scientific colaboration planned to be held in the period from 2007-2009. Many brazilian institutions have shown interest in participating in the IHY activities. All of them provided information about their instrumental facilities and contact person. A list of institutions and their information is shown in the Latin-American IHY webpage (http://www.alage.org/IHYLA/ihyla.html), hosted by the Latin American Association on Space Geophysics - ALAGE. IHY Brazilian activities are being conducted in close colaboration with Latin-American Institutions. Five Coordinated Investigation programs (CIPs) have been proposed by scientists from brazilian institutions. Recentely, in February 2008, there has been the Latin American IHY School in Sao Paulo (Brazil), with the participation of 80 students from Brazil, Argentina, Peru, Mexico and Cuba. In this work, a report on the brazilian activities will be presented.

Cogeneration for Brazil

International Nuclear Information System (INIS)

Anon.

2000-01-01

Almost all the electric power in Brazil comes from large-scale hydroelectric plants: only about 3% comes from cogeneration. But, now that the barriers which discouraged cogeneration are being removed, there will be more and more investment in cogeneration and distributed generation. The circumstances which have brought about these changes are described. It is expected that cogeneration will be responsible for producing 10-15% of Brazil's electricity by 2010 and the demand for cogeneration will reach 11-17 GW. It is concluded that Brazil represents one of the world's most attractive market for cogeneration and distributed generation

Disease evolution and outcomes in familial AML with germline CEBPA mutations

DEFF Research Database (Denmark)

Tawana, Kiran; Wang, Jun; Renneville, Aline

2015-01-01

collected from 10 CEBPA-mutated families, representing 24 members with acute myeloid leukemia (AML). Whole-exome (WES) and deep sequencing were performed to genetically profile tumors and define patterns of clonal evolution. Germline CEBPA mutations clustered within the N-terminal and were highly penetrant......, with AML presenting at a median age of 24.5 years (range, 1.75-46 years). In all diagnostic tumors tested (n = 18), double CEBPA mutations (CEBPAdm) were detected, with acquired (somatic) mutations preferentially targeting the C-terminal. Somatic CEBPA mutations were unstable throughout the disease course...

K-RAS and N-RAS mutations in testicular germ cell tumors

Directory of Open Access Journals (Sweden)

Bekir Muhammet Hacioglu

2017-05-01

Full Text Available Testicular cancer is a relatively rare tumor type, accounting for approximately 1% of all cancers in men. However, among men aged between 15 and 40 years, testicular cancer is the most commonly diagnosed malignancy. Testicular germ cell tumors (TGCTs are classified as seminoma and non-seminoma. The RAS oncogene controls several cellular functions, including cell proliferation, apoptosis, migration, and differentiation. Thus, RAS signaling is important for normal germ cell development. Mutations of the Kirsten RAS (K-RAS gene are present in over 20% of all cancers. RAS gene mutations have also been reported in TGCTs. We investigated K-RAS and N-RAS mutations in seminoma and non-seminoma TGCT patients. A total of 24 (55% pure seminoma cases and 19 (45% non-seminoma cases were included in the study. K-RAS and N-RAS analyses were performed in our molecular pathology laboratory, using K-RAS and N-RAS Pyro Kit 24 V1 (Qiagen. In total, a RAS mutation was present in 12 patients (27%: 7 seminoma (29% and 5 non-seminoma cases (26% [p = 0.55]. A K-RAS mutation was present in 4 pure seminoma tumors (16% and 3 non-seminoma tumors (15% [p = 0.63], and an N-RAS mutation was observed in 4 seminoma tumors (16% and 3 non-seminoma tumors (15% [p = 0.63]. Both, K-RAS and N-RAS mutations were present in two patients: one with seminoma tumor and the other with non-seminoma tumor. To date, no approved targeted therapy is available for the treatment of TGCTs. The analysis of K-RAS and N-RAS mutations in these tumors may provide more treatment options, especially in platinum-resistant tumors.

Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis

DEFF Research Database (Denmark)

Abdullah, Uzma; Farooq, Muhammad; Fatima, Ambrin

2017-01-01

We present a case of a foetal sonographic finding of hyper-echogenic kidneys, which led to a strategic series of genetic tests and identified a homozygous mutation (c.424C > T, p. R142*) in the NPHP3 gene. Our study provides a rare presentation of NPHP3-related ciliopathy and adds to the mutation...

FGFR3, PIK3CA and RAS mutations in benign lichenoid keratosis.

Science.gov (United States)

Groesser, L; Herschberger, E; Landthaler, M; Hafner, C

2012-04-01

Benign lichenoid keratoses (BLKs) are solitary skin lesions which have been proposed to represent a regressive form of pre-existent epidermal tumours such as solar lentigo or seborrhoeic keratosis. However, the genetic basis of BLK is unknown. FGFR3, PIK3CA and RAS mutations have been shown to be involved in the pathogenesis of seborrhoeic keratosis and solar lentigo. We thus investigated whether these mutations are also present in BLK. After manual microdissection and DNA isolation, 52 BLKs were screened for FGFR3, PIK3CA and RAS hotspot mutations using SNaPshot(®) multiplex assays. We identified 6/52 (12%) FGFR3 mutations, 10/52 (19%) PIK3CA mutations, 6/52 (12%) HRAS mutations and 2/52 (4%) KRAS mutations. FGFR3 and RAS mutations were mutually exclusive. One BLK showed a simultaneous PIK3CA and HRAS mutation. In nine BLKs with a mutation, nonlesional control tissue from the epidermal margin and the dermal lymphocytic infiltrate were wild-type, indicating that these mutations are somatic. To demonstrate that these findings are specific, 10 samples of lichen planus were analysed without evidence for FGFR3, PIK3CA or RAS mutations. Our results indicate that FGFR3, PIK3CA and RAS mutations are present in approximately 50% of BLKs. These findings support the concept on the molecular genetic level that at least a proportion of BLKs represents regressive variants resulting from former benign epidermal tumours such as seborrhoeic keratosis and solar lentigo. © 2011 The Authors. BJD © 2011 British Association of Dermatologists 2011.

Evaluation of mutagenic potential of contaminated atmosphere at Ibirapuera Park, Sao Paulo - SP, Brazil, using the Tradescantia stamen-hair assay

International Nuclear Information System (INIS)

Ferreira, Maria Izildinha; Domingos, Marisa; Gomes, Heliana de A; Saldiva, Paulo H.N.; Assuncao, Joao V. de

2007-01-01

Trad-SHM assay was used to check mutagenic potential of atmospheric contamination at Ibirapuera Park, located in Sao Paulo city, Brazil, and variation of risk along the year, besides determining which Tradescantia clone, BNL 4430 or KU-20, better indicates risk. Thirty pots of both clones were exposed during one-year period (September, 2002-August, 2003). Twenty inflorescences were taken from each clone twice a month in the morning, in order to estimate the frequency of mutations in stamen hairs. Results were compared to air pollution and climatic data measured next to the exposure site. KU-20 showed stamen-hair mutations greater than BNL 4430. Greatest mutation rates in KU-20 were observed in condition of high monthly mean of NO 2 and average peak concentrations of NO during the day, indicating that mutagenic effects originated from vehicular pollution. Clone KU-20 revealed to be more appropriate for biomonitoring purposes at the Park. - Clone KU-20 showed to be more appropriate than clone BNL 4430 to indicate vehicular pollution mutagenic risks in Trad-SHM assay

Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia.

Science.gov (United States)

Yoshizato, Tetsuichi; Dumitriu, Bogdan; Hosokawa, Kohei; Makishima, Hideki; Yoshida, Kenichi; Townsley, Danielle; Sato-Otsubo, Aiko; Sato, Yusuke; Liu, Delong; Suzuki, Hiromichi; Wu, Colin O; Shiraishi, Yuichi; Clemente, Michael J; Kataoka, Keisuke; Shiozawa, Yusuke; Okuno, Yusuke; Chiba, Kenichi; Tanaka, Hiroko; Nagata, Yasunobu; Katagiri, Takamasa; Kon, Ayana; Sanada, Masashi; Scheinberg, Phillip; Miyano, Satoru; Maciejewski, Jaroslaw P; Nakao, Shinji; Young, Neal S; Ogawa, Seishi

2015-07-02

In patients with acquired aplastic anemia, destruction of hematopoietic cells by the immune system leads to pancytopenia. Patients have a response to immunosuppressive therapy, but myelodysplastic syndromes and acute myeloid leukemia develop in about 15% of the patients, usually many months to years after the diagnosis of aplastic anemia. We performed next-generation sequencing and array-based karyotyping using 668 blood samples obtained from 439 patients with aplastic anemia. We analyzed serial samples obtained from 82 patients. Somatic mutations in myeloid cancer candidate genes were present in one third of the patients, in a limited number of genes and at low initial variant allele frequency. Clonal hematopoiesis was detected in 47% of the patients, most frequently as acquired mutations. The prevalence of the mutations increased with age, and mutations had an age-related signature. DNMT3A-mutated and ASXL1-mutated clones tended to increase in size over time; the size of BCOR- and BCORL1-mutated and PIGA-mutated clones decreased or remained stable. Mutations in PIGA and BCOR and BCORL1 correlated with a better response to immunosuppressive therapy and longer and a higher rate of overall and progression-free survival; mutations in a subgroup of genes that included DNMT3A and ASXL1 were associated with worse outcomes. However, clonal dynamics were highly variable and might not necessarily have predicted the response to therapy and long-term survival among individual patients. Clonal hematopoiesis was prevalent in aplastic anemia. Some mutations were related to clinical outcomes. A highly biased set of mutations is evidence of Darwinian selection in the failed bone marrow environment. The pattern of somatic clones in individual patients over time was variable and frequently unpredictable. (Funded by Grant-in-Aid for Scientific Research and others.).

Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.

Science.gov (United States)

Papp, Janos; Kovacs, Marietta Eva; Matrai, Zoltan; Orosz, Enikő; Kásler, Miklós; Børresen-Dale, Anne-Lise; Olah, Edith

2016-01-01

Familial adenomatous polyposis (FAP) is a colorectal cancer predisposition syndrome with considerable genetic and phenotypic heterogeneity, defined by the development of multiple adenomas throughout the colorectum. FAP is caused either by monoallelic mutations in the adenomatous polyposis coli gene APC, or by biallelic germline mutations of MUTYH, this latter usually presenting with milder phenotype. The aim of the present study was to characterize the genotype and phenotype of Hungarian FAP patients. Mutation screening of 87 unrelated probands from FAP families (21 of them presented as the attenuated variant of the disease, showing APC were identified in 65 patients (75 %), including nine cases (37.5 %) with large genomic alterations. Twelve of the point mutations were novel. In addition, APC-negative samples were also tested for MUTYH mutations and we were able to identify biallelic pathogenic mutations in 23 % of these cases (5/22). Correlations between the localization of APC mutations and the clinical manifestations of the disease were observed, cases with a mutation in the codon 1200-1400 region showing earlier age of disease onset (p APC- and MUTYH-associated FAP in our cohort: the age at onset of polyposis was significantly delayed for biallelic MUTYH mutation carriers as compared to patients with an APC mutation. Our data represent the first comprehensive study delineating the mutation spectra of both APC and MUTYH in Hungarian FAP families, and underscore the overlap between the clinical characteristics of APC- and MUTYH-associated phenotypes, necessitating a more appropriate clinical characterization of FAP families.

Hereditary cancer genes are highly susceptible to splicing mutations

Science.gov (United States)

Soemedi, Rachel; Maguire, Samantha; Murray, Michael F.; Monaghan, Sean F.

2018-01-01

Substitutions that disrupt pre-mRNA splicing are a common cause of genetic disease. On average, 13.4% of all hereditary disease alleles are classified as splicing mutations mapping to the canonical 5′ and 3′ splice sites. However, splicing mutations present in exons and deeper intronic positions are vastly underreported. A recent re-analysis of coding mutations in exon 10 of the Lynch Syndrome gene, MLH1, revealed an extremely high rate (77%) of mutations that lead to defective splicing. This finding is confirmed by extending the sampling to five other exons in the MLH1 gene. Further analysis suggests a more general phenomenon of defective splicing driving Lynch Syndrome. Of the 36 mutations tested, 11 disrupted splicing. Furthermore, analyzing past reports suggest that MLH1 mutations in canonical splice sites also occupy a much higher fraction (36%) of total mutations than expected. When performing a comprehensive analysis of splicing mutations in human disease genes, we found that three main causal genes of Lynch Syndrome, MLH1, MSH2, and PMS2, belonged to a class of 86 disease genes which are enriched for splicing mutations. Other cancer genes were also enriched in the 86 susceptible genes. The enrichment of splicing mutations in hereditary cancers strongly argues for additional priority in interpreting clinical sequencing data in relation to cancer and splicing. PMID:29505604

Hereditary cancer genes are highly susceptible to splicing mutations.

Directory of Open Access Journals (Sweden)

Christy L Rhine

2018-03-01

Full Text Available Substitutions that disrupt pre-mRNA splicing are a common cause of genetic disease. On average, 13.4% of all hereditary disease alleles are classified as splicing mutations mapping to the canonical 5' and 3' splice sites. However, splicing mutations present in exons and deeper intronic positions are vastly underreported. A recent re-analysis of coding mutations in exon 10 of the Lynch Syndrome gene, MLH1, revealed an extremely high rate (77% of mutations that lead to defective splicing. This finding is confirmed by extending the sampling to five other exons in the MLH1 gene. Further analysis suggests a more general phenomenon of defective splicing driving Lynch Syndrome. Of the 36 mutations tested, 11 disrupted splicing. Furthermore, analyzing past reports suggest that MLH1 mutations in canonical splice sites also occupy a much higher fraction (36% of total mutations than expected. When performing a comprehensive analysis of splicing mutations in human disease genes, we found that three main causal genes of Lynch Syndrome, MLH1, MSH2, and PMS2, belonged to a class of 86 disease genes which are enriched for splicing mutations. Other cancer genes were also enriched in the 86 susceptible genes. The enrichment of splicing mutations in hereditary cancers strongly argues for additional priority in interpreting clinical sequencing data in relation to cancer and splicing.

Management report 2001 of COPEL - Electrical Company of Parana State, Brazil

International Nuclear Information System (INIS)

Anon

2000-01-01

The COPEL - Electrical Company of Parana State, Brazil - management report of calendar year of 2000 is presented, covering the following topics: COPEL - standing for much more than energy; extending the benefits of electricity to everyone in Parana state, Brazil; protecting and recovering the environment; philanthropy and volunteer work; education; social integration; support to cultural expression and gratitude

Laser desorption mass spectrometry for point mutation detection

Energy Technology Data Exchange (ETDEWEB)

Taranenko, N.I.; Chung, C.N.; Zhu, Y.F. [Oak Ridge National Lab., TN (United States)] [and others

1996-12-31

A point mutation can be associated with the pathogenesis of inherited or acquired diseases. Laser desorption mass spectrometry coupled with allele specific polymerase chain reaction (PCR) was first used for point mutation detection. G551D is one of several mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene present in 1-3% of the mutant CFTR alleles in most European populations. In this work, two different approaches were pursued to detect G551D point mutation in the cystic fibrosis gene. The strategy is to amplify the desired region of DNA template by PCR using two primers that overlap one base at the site of the point mutation and which vary in size. If the two primers based on the normal sequence match the target DNA sequence, a normal PCR product will be produced. However, if the alternately sized primers that match the mutant sequence recognize the target DNA, an abnormal PCR product will be produced. Thus, the mass spectrometer can be used to identify patients that are homozygous normal, heterozygous for a mutation or homozygous abnormal at a mutation site. Another approach to identify similar mutations is the use of sequence specific restriction enzymes which respond to changes in the DNA sequence. Mass spectrometry is used to detect the length of the restriction fragments by digestion of a PCR generated target fragment. 21 refs., 10 figs., 2 tabs.

Bi-directional SIFT predicts a subset of activating mutations.

Directory of Open Access Journals (Sweden)

William Lee

Full Text Available Advancements in sequencing technologies have empowered recent efforts to identify polymorphisms and mutations on a global scale. The large number of variations and mutations found in these projects requires high-throughput tools to identify those that are most likely to have an impact on function. Numerous computational tools exist for predicting which mutations are likely to be functional, but none that specifically attempt to identify mutations that result in hyperactivation or gain-of-function. Here we present a modified version of the SIFT (Sorting Intolerant from Tolerant algorithm that utilizes protein sequence alignments with homologous sequences to identify functional mutations based on evolutionary fitness. We show that this bi-directional SIFT (B-SIFT is capable of identifying experimentally verified activating mutants from multiple datasets. B-SIFT analysis of large-scale cancer genotyping data identified potential activating mutations, some of which we have provided detailed structural evidence to support. B-SIFT could prove to be a valuable tool for efforts in protein engineering as well as in identification of functional mutations in cancer.

Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.

Science.gov (United States)

Auré, Karine; Dubourg, Odile; Jardel, Claude; Clarysse, Lucie; Sternberg, Damien; Fournier, Emmanuel; Laforêt, Pascal; Streichenberger, Nathalie; Petiot, Philippe; Gervais-Bernard, Hélène; Vial, Christophe; Bedat-Millet, Anne-Laure; Drouin-Garraud, Valérie; Bouillaud, Frédéric; Vandier, Christophe; Fontaine, Bertrand; Lombès, Anne

2013-11-19

To report that homoplasmic deleterious mutations in the mitochondrial DNA MT-ATP6/8 genes may be responsible for acute episodes of limb weakness mimicking periodic paralysis due to channelopathies and dramatically responding to acetazolamide. Mitochondrial DNA sequencing and restriction PCR, oxidative phosphorylation functional assays, reactive oxygen species metabolism, and patch-clamp technique in cultured skin fibroblasts. Occurrence of a typical MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) syndrome in a single member of a large pedigree with episodic weakness associated with a later-onset distal motor neuropathy led to the disclosure of 2 deleterious mitochondrial DNA mutations. The MT-ATP6 m.9185T>C p.Leu220Pro mutation, previously associated with Leigh syndrome, was present in all family members, while the MT-TL1 m.3271T>C mutation, a known cause of MELAS syndrome, was observed in the sole patient with MELAS presentation. Significant defect of complexes V and I as well as oxidative stress were observed in both primary fibroblasts and cybrid cells with 100% m.9185T>C mutation. Permanent plasma membrane depolarization and altered permeability to K(+) in fibroblasts provided a link with the paralysis episodes. Screening of 9 patients, based on their clinical phenotype, identified 4 patients with similar deleterious MT-ATP6 mutations (twice m.9185T>C and once m.9176T>C or m.8893T>C). A fifth patient presented with an original potentially deleterious MT-ATP8 mutation (m.8403T>C). All mutations were associated with almost-normal complex V activity but significant oxidative stress and permanent plasma membrane depolarization. Homoplasmic mutations in the MT-ATP6/8 genes may cause episodic weakness responding to acetazolamide treatment.

JAK2 Exon 12 Mutations in Polycythemia Vera and Idiopathic Erythrocytosis

Science.gov (United States)

Scott, Linda M.; Tong, Wei; Levine, Ross L.; Scott, Mike A.; Beer, Philip A.; Stratton, Michael R.; Futreal, P. Andrew; Erber, Wendy N.; McMullin, Mary Frances; Harrison, Claire N.; Warren, Alan J.; Gilliland, D. Gary; Lodish, Harvey F.; Green, Anthony R.

2010-01-01

BACKGROUND The V617F mutation, which causes the substitution of phenylalanine for valine at position 617 of the Janus kinase (JAK) 2 gene (JAK2), is often present in patients with polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis. However, the molecular basis of these myeloproliferative disorders in patients without the V617F mutation is unclear. METHODS We searched for new mutations in members of the JAK and signal transducer and activator of transcription (STAT) gene families in patients with V617F-negative polycythemia vera or idiopathic erythrocytosis. The mutations were characterized biochemically and in a murine model of bone marrow transplantation. RESULTS We identified four somatic gain-of-function mutations affecting JAK2 exon 12 in 10 V617F-negative patients. Those with a JAK2 exon 12 mutation presented with an isolated erythrocytosis and distinctive bone marrow morphology, and several also had reduced serum erythropoietin levels. Erythroid colonies could be grown from their blood samples in the absence of exogenous erythropoietin. All such erythroid colonies were heterozygous for the mutation, whereas colonies homozygous for the mutation occur in most patients with V617F-positive polycythemia vera. BaF3 cells expressing the murine erythropoietin receptor and also carrying exon 12 mutations could proliferate without added interleukin-3. They also exhibited increased phosphorylation of JAK2 and extracellular regulated kinase 1 and 2, as compared with cells transduced by wild-type JAK2 or V617F JAK2. Three of the exon 12 mutations included a substitution of leucine for lysine at position 539 of JAK2. This mutation resulted in a myeloproliferative phenotype, including erythrocytosis, in a murine model of retroviral bone marrow transplantation. CONCLUSIONS JAK2 exon 12 mutations define a distinctive myeloproliferative syndrome that affects patients who currently receive a diagnosis of polycythemia vera or idiopathic erythrocytosis

Discussions and projections about the future demand for nuclear power in Brazil

Energy Technology Data Exchange (ETDEWEB)

Oliveira, Fabio Branco Vaz de, E-mail: fabio@ipen.b [Instituto de Pesquisas Energeticas e Nucleares (IPEN/CNEN-SP), Sao Paulo, SP (Brazil). Nuclear and Engineering Center; Imakuma, Kengo, E-mail: kimakuma@ipen.b [Instituto de Pesquisas Energeticas e Nucleares (IPEN/CNEN-SP), Sao Paulo, SP (Brazil). Information Technology Development Dept.

2011-07-01

This paper aims mainly to discuss the current scenarios of power consumption, nuclear power and conventional and uranium resources and, based on that, present projections about the future demand for power generated through atomic fissions in Brazil, showing that there may be differences in estimates of future projections, depending on the indexes considered: global or domestic. The time horizon for the analysis was studied up to the maximum for the national population, for some of the world and Brazil's governmental data in terms of population growth, energy consumption and energy consumption per capita. To introduce the importance of the methodology adopted, data and some problems presented about the current world energy and Brazilian scenarios are discussed. Calculations show that the power consumption projections for Brazil, when using global indexes, are very high. According to our methodology, power consumption in Brazil is nearly 4.5 times below the estimates presented by the global indexes. The conclusion is that applying global indexes and their extension to domestic scenarios lead to errors of orders of magnitudes, due to the specific particularities of each country, and must be avoided if accurate projections about energy and nuclear scenarios must be considered. (author)

Discussions and projections about the future demand for nuclear power in Brazil

International Nuclear Information System (INIS)

Oliveira, Fabio Branco Vaz de; Imakuma, Kengo

2011-01-01

This paper aims mainly to discuss the current scenarios of power consumption, nuclear power and conventional and uranium resources and, based on that, present projections about the future demand for power generated through atomic fissions in Brazil, showing that there may be differences in estimates of future projections, depending on the indexes considered: global or domestic. The time horizon for the analysis was studied up to the maximum for the national population, for some of the world and Brazil's governmental data in terms of population growth, energy consumption and energy consumption per capita. To introduce the importance of the methodology adopted, data and some problems presented about the current world energy and Brazilian scenarios are discussed. Calculations show that the power consumption projections for Brazil, when using global indexes, are very high. According to our methodology, power consumption in Brazil is nearly 4.5 times below the estimates presented by the global indexes. The conclusion is that applying global indexes and their extension to domestic scenarios lead to errors of orders of magnitudes, due to the specific particularities of each country, and must be avoided if accurate projections about energy and nuclear scenarios must be considered. (author)

Detection of Ultra-Rare Mitochondrial Mutations in Breast Stem Cells by Duplex Sequencing.

Directory of Open Access Journals (Sweden)

Eun Hyun Ahn

Full Text Available Long-lived adult stem cells could accumulate non-repaired DNA damage or mutations that increase the risk of tumor formation. To date, studies on mutations in stem cells have concentrated on clonal (homoplasmic mutations and have not focused on rarely occurring stochastic mutations that may accumulate during stem cell dormancy. A major challenge in investigating these rare mutations is that conventional next generation sequencing (NGS methods have high error rates. We have established a new method termed Duplex Sequencing (DS, which detects mutations with unprecedented accuracy. We present a comprehensive analysis of mitochondrial DNA mutations in human breast normal stem cells and non-stem cells using DS. The vast majority of mutations occur at low frequency and are not detectable by NGS. The most prevalent point mutation types are the C>T/G>A and A>G/T>C transitions. The mutations exhibit a strand bias with higher prevalence of G>A, T>C, and A>C mutations on the light strand of the mitochondrial genome. The overall rare mutation frequency is significantly lower in stem cells than in the corresponding non-stem cells. We have identified common and unique non-homoplasmic mutations between non-stem and stem cells that include new mutations which have not been reported previously. Four mutations found within the MT-ND5 gene (m.12684G>A, m.12705C>T, m.13095T>C, m.13105A>G are present in all groups of stem and non-stem cells. Two mutations (m.8567T>C, m.10547C>G are found only in non-stem cells. This first genome-wide analysis of mitochondrial DNA mutations may aid in characterizing human breast normal epithelial cells and serve as a reference for cancer stem cell mutation profiles.

Thyroid hyperfunctioning adenomas with and without Gsp/TSH receptor mutations show similar clinical features.

Science.gov (United States)

Arturi, F; Capula, C; Chiefari, E; Filetti, S; Russo, D

1998-01-01

Activating mutations of Gs alpha protein (gsp) and TSH receptor (TSH-R) identified in autonomously hyperfunctioning thyroid adenomas have been proposed as the primary event responsible for this disease. Since mutations have not been detected in 100% (ranging from less than 10% to 90%) of the patients, we evaluated whether the presence of gsp and TSH-R mutations cause differences in the clinical and biochemical parameters of the affected patients. Fifteen consecutive patients (11 women and 4 men) with autonomously hyperfunctioning thyroid adenomas who underwent thyroidectomy, previously examined for the presence of gsp or TSH-R mutations, were investigated. In all of the patients we examined plasma free T3, free T4, TSH levels and ultrasound volume of the nodules. The patients with mutations in gsp or TSH-R were similar to the patients without mutations for clinical presentation, sex distribution and mean age. Furthermore, basal serum FT3, TSH and tumor volume in the patients with mutations were not significantly different from the group without mutations. Our preliminary data demonstrate that no significant differences are present in the two groups of patients examined, suggesting that factors other than gsp or TSH-R mutations play a role in the clinical presentation of the disease.

Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation

Science.gov (United States)

Fedyna, Alison; Drayna, Dennis; Kang, Changsoo

2010-01-01

Stuttering is a disorder which affects the fluency of speech. It has been shown to have high heritability, and has recently been linked to mutations in the GNPTAB gene. One such mutation, Glu1200Lys, has been repeatedly observed in unrelated families and individual cases. Eight unrelated individuals carrying this mutation were analyzed in an effort to distinguish whether these arise from repeated mutation at the same site, or whether they represent a founder mutation with a single origin. Results show that all 12 chromosomes carrying this mutation share a common haplotype in this region, indicating it is a founder mutation. Further analysis estimated the age of this allele to be ~572 generations. Construction of a cladogram tracing the mutation through our study sample also supports the founder mutation hypothesis. PMID:20944643

Youth Perspectives on Risk and Resiliency: A Case Study from Juiz De Fora, Brazil

Science.gov (United States)

Morrison, Penelope; Nikolajski, Cara; Borrero, Sonya; Zickmund, Susan

2014-01-01

The present work seeks to contribute to studies of cross-cultural risk and resiliency by presenting results from qualitative research with adolescents attending programs for at-risk youth in Juiz de Fora, Brazil. In 1990, Brazil introduced the Child and Adolescent Act (ECA), a significant piece of legislation that has had a direct impact on how…

JAK and MPL mutations in myeloid malignancies.

Science.gov (United States)

Tefferi, Ayalew

2008-03-01

The Janus family of non-receptor tyrosine kinases (JAK1, JAK2, JAK3 and tyrosine kinase 2) transduces signals downstream of type I and II cytokine receptors via signal transducers and activators of transcription (STATs). JAK3 is important in lymphoid and JAK2 in myeloid cell proliferation and differentiation. The thrombopoietin receptor MPL is one of several JAK2 cognate receptors and is essential for myelopoiesis in general and megakaryopoiesis in particular. Germline loss-of-function (LOF) JAK3 and MPL mutations cause severe combined immunodeficiency and congenital amegakaryocytic thrombocytopenia, respectively. Germline gain-of-function (GOF) MPL mutation (MPLS505N) causes familial thrombocytosis. Somatic JAK3 (e.g. JAK3A572V, JAK3V722I, JAK3P132T) and fusion JAK2 (e.g. ETV6-JAK2, PCM1-JAK2, BCR-JAK2) mutations have respectively been described in acute megakaryocytic leukemia and acute leukemia/chronic myeloid malignancies. However, current attention is focused on JAK2 (e.g. JAK2V617F, JAK2 exon 12 mutations) and MPL (e.g. MPLW515L/K/S, MPLS505N) mutations associated with myeloproliferative neoplasms (MPNs). A JAK2 mutation, primarily JAK2V617F, is invariably associated with polycythemia vera (PV). The latter mutation also occurs in the majority of patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF). MPL mutational frequency in MPNs is substantially less (<10%). In general, despite a certain degree of genotype - phenotype correlations, the prognostic relevance of harbouring one of these mutations, or their allele burden when present, remains dubious. Regardless, based on the logical assumption that amplified JAK-STAT signalling is central to the pathogenesis of PV, ET and PMF, several anti-JAK2 tyrosine kinase inhibitors have been developed and are currently being tested in humans with these disorders.

Imagined futures, present lives

DEFF Research Database (Denmark)

Dalsgaard, Anne Line; Wildermuth, Norbert

2006-01-01

The article is focused thematically on the uses and meanings of media for (some) young people in Recife, a million-inhabitant city in the northeast of Brazil. The article brings together the perspective of Anne Line Dalsgaard, a long-term anthropological field researcher who is familiar with the ......The article is focused thematically on the uses and meanings of media for (some) young people in Recife, a million-inhabitant city in the northeast of Brazil. The article brings together the perspective of Anne Line Dalsgaard, a long-term anthropological field researcher who is familiar...... is discussed centrally in this attempt to contribute to an empirically grounded understanding of the role that media play for youth in their striving to ‘find a place in life'. In the empirical context presented in the article, imaginations, expanded and circulated by a globalized media circuit...

Glucokinase gene mutations (MODY 2) in Asian Indians.

Science.gov (United States)

Kanthimathi, Sekar; Jahnavi, Suresh; Balamurugan, Kandasamy; Ranjani, Harish; Sonya, Jagadesan; Goswami, Soumik; Chowdhury, Subhankar; Mohan, Viswanathan; Radha, Venkatesan

2014-03-01

Heterozygous inactivating mutations in the glucokinase (GCK) gene cause a hyperglycemic condition termed maturity-onset diabetes of the young (MODY) 2 or GCK-MODY. This is characterized by mild, stable, usually asymptomatic, fasting hyperglycemia that rarely requires pharmacological intervention. The aim of the present study was to screen for GCK gene mutations in Asian Indian subjects with mild hyperglycemia. Of the 1,517 children and adolescents of the population-based ORANGE study in Chennai, India, 49 were found to have hyperglycemia. These children along with the six patients referred to our center with mild hyperglycemia were screened for MODY 2 mutations. The GCK gene was bidirectionally sequenced using BigDye(®) Terminator v3.1 (Applied Biosystems, Foster City, CA) chemistry. In silico predictions of the pathogenicity were carried out using the online tools SIFT, Polyphen-2, and I-Mutant 2.0 software programs. Direct sequencing of the GCK gene in the patients referred to our Centre revealed one novel mutation, Thr206Ala (c.616A>G), in exon 6 and one previously described mutation, Met251Thr (c.752T>C), in exon 7. In silico analysis predicted the novel mutation to be pathogenic. The highly conserved nature and critical location of the residue Thr206 along with the clinical course suggests that the Thr206Ala is a MODY 2 mutation. However, we did not find any MODY 2 mutations in the 49 children selected from the population-based study. Hence prevalence of GCK mutations in Chennai is MODY 2 mutations from India and confirms the importance of considering GCK gene mutation screening in patients with mild early-onset hyperglycemia who are negative for β-cell antibodies.

Case studies in international tobacco surveillance: cigarette smuggling in Brazil.

Science.gov (United States)

Shafey, O; Cokkinides, V; Cavalcante, T M; Teixeira, M; Vianna, C; Thun, M

2002-09-01

This article is the first in a series of international case studies developed by the American Cancer Society to illustrate use of publicly available surveillance data for regional tobacco control. A descriptive analysis of Brazil and Paraguay cigarette production and trade data from official sources. Per capita cigarette consumption for Brazil and its neighbour was calculated from 1970 to 1998 using data on production, imports, and exports from NATIONS, the National Tobacco Information Online System. A 63% decrease was observed in the estimate of per capita consumption of cigarettes in Brazil between 1986 and 1998 (from 1913 cigarettes per person in 1986 to 714 cigarettes per person in 1998) and a 16-fold increase in Paraguay was observed during the same period (from 678 cigarettes per person in 1986 to 10 929 cigarettes per person in 1998). Following Brazil's 1999 passage of a 150% cigarette export tax, cigarette exports fell 89% and Brazil's estimated per capita consumption rose to 1990 levels (based on preliminary data). Per capita consumption in Paraguay also fell to 1990 levels. These trends coincide with local evidence that large volumes of cigarettes manufactured in Brazil for export to Paraguay are smuggled back and consumed as tax-free contraband in Brazil. It is hoped that this case study will draw wider public attention to the problems that smuggling presents for tobacco control, help identify other countries confronting similar issues, and stimulate effective interventions.

IBM Brazil: and environmental modern view

Energy Technology Data Exchange (ETDEWEB)

Cremonesi, Valter [IBM Brasil, Industria, Maquinas e Servicos Ltda., Rio de Janeiro, Rj (Brazil)

1994-12-31

Information of practical experiences on Environmental Affairs at IBM Brazil plant and branch offices is presented, with a modern view of the mission, resources, support, waste management, monitoring programs, recycling, energy conservation, partners programs, nature preservation 2rograms, recognitions and image. (author). 4 figs., 2 tabs.

IBM Brazil: and environmental modern view

Energy Technology Data Exchange (ETDEWEB)

Cremonesi, Valter [IBM Brasil, Industria, Maquinas e Servicos Ltda., Rio de Janeiro, Rj (Brazil)

1993-12-31

Information of practical experiences on Environmental Affairs at IBM Brazil plant and branch offices is presented, with a modern view of the mission, resources, support, waste management, monitoring programs, recycling, energy conservation, partners programs, nature preservation 2rograms, recognitions and image. (author). 4 figs., 2 tabs.

Establishment and cryptic transmission of Zika virus in Brazil and the Americas.

Science.gov (United States)

Faria, N R; Quick, J; Claro, I M; Thézé, J; de Jesus, J G; Giovanetti, M; Kraemer, M U G; Hill, S C; Black, A; da Costa, A C; Franco, L C; Silva, S P; Wu, C-H; Raghwani, J; Cauchemez, S; du Plessis, L; Verotti, M P; de Oliveira, W K; Carmo, E H; Coelho, G E; Santelli, A C F S; Vinhal, L C; Henriques, C M; Simpson, J T; Loose, M; Andersen, K G; Grubaugh, N D; Somasekar, S; Chiu, C Y; Muñoz-Medina, J E; Gonzalez-Bonilla, C R; Arias, C F; Lewis-Ximenez, L L; Baylis, S A; Chieppe, A O; Aguiar, S F; Fernandes, C A; Lemos, P S; Nascimento, B L S; Monteiro, H A O; Siqueira, I C; de Queiroz, M G; de Souza, T R; Bezerra, J F; Lemos, M R; Pereira, G F; Loudal, D; Moura, L C; Dhalia, R; França, R F; Magalhães, T; Marques, E T; Jaenisch, T; Wallau, G L; de Lima, M C; Nascimento, V; de Cerqueira, E M; de Lima, M M; Mascarenhas, D L; Neto, J P Moura; Levin, A S; Tozetto-Mendoza, T R; Fonseca, S N; Mendes-Correa, M C; Milagres, F P; Segurado, A; Holmes, E C; Rambaut, A; Bedford, T; Nunes, M R T; Sabino, E C; Alcantara, L C J; Loman, N J; Pybus, O G

2017-06-15

Transmission of Zika virus (ZIKV) in the Americas was first confirmed in May 2015 in northeast Brazil. Brazil has had the highest number of reported ZIKV cases worldwide (more than 200,000 by 24 December 2016) and the most cases associated with microcephaly and other birth defects (2,366 confirmed by 31 December 2016). Since the initial detection of ZIKV in Brazil, more than 45 countries in the Americas have reported local ZIKV transmission, with 24 of these reporting severe ZIKV-associated disease. However, the origin and epidemic history of ZIKV in Brazil and the Americas remain poorly understood, despite the value of this information for interpreting observed trends in reported microcephaly. Here we address this issue by generating 54 complete or partial ZIKV genomes, mostly from Brazil, and reporting data generated by a mobile genomics laboratory that travelled across northeast Brazil in 2016. One sequence represents the earliest confirmed ZIKV infection in Brazil. Analyses of viral genomes with ecological and epidemiological data yield an estimate that ZIKV was present in northeast Brazil by February 2014 and is likely to have disseminated from there, nationally and internationally, before the first detection of ZIKV in the Americas. Estimated dates for the international spread of ZIKV from Brazil indicate the duration of pre-detection cryptic transmission in recipient regions. The role of northeast Brazil in the establishment of ZIKV in the Americas is further supported by geographic analysis of ZIKV transmission potential and by estimates of the basic reproduction number of the virus.

Establishment and cryptic transmission of Zika virus in Brazil and the Americas

Science.gov (United States)

Faria, N. R.; Quick, J.; Claro, I. M.; Thézé, J.; de Jesus, J. G.; Giovanetti, M.; Kraemer, M. U. G.; Hill, S. C.; Black, A.; da Costa, A. C.; Franco, L. C.; Silva, S. P.; Wu, C.-H.; Raghwani, J.; Cauchemez, S.; Du Plessis, L.; Verotti, M. P.; de Oliveira, W. K.; Carmo, E. H.; Coelho, G. E.; Santelli, A. C. F. S.; Vinhal, L. C.; Henriques, C. M.; Simpson, J. T.; Loose, M.; Andersen, K. G.; Grubaugh, N. D.; Somasekar, S.; Chiu, C. Y.; Muñoz-Medina, J. E.; Gonzalez-Bonilla, C. R.; Arias, C. F.; Lewis-Ximenez, L. L.; Baylis, S. A.; Chieppe, A. O.; Aguiar, S. F.; Fernandes, C. A.; Lemos, P. S.; Nascimento, B. L. S.; Monteiro, H. A. O.; Siqueira, I. C.; de Queiroz, M. G.; de Souza, T. R.; Bezerra, J. F.; Lemos, M. R.; Pereira, G. F.; Loudal, D.; Moura, L. C.; Dhalia, R.; França, R. F.; Magalhães, T.; Marques, E. T.; Jaenisch, T.; Wallau, G. L.; de Lima, M. C.; Nascimento, V.; de Cerqueira, E. M.; de Lima, M. M.; Mascarenhas, D. L.; Neto, J. P. Moura; Levin, A. S.; Tozetto-Mendoza, T. R.; Fonseca, S. N.; Mendes-Correa, M. C.; Milagres, F. P.; Segurado, A.; Holmes, E. C.; Rambaut, A.; Bedford, T.; Nunes, M. R. T.; Sabino, E. C.; Alcantara, L. C. J.; Loman, N. J.; Pybus, O. G.

2017-06-01

Transmission of Zika virus (ZIKV) in the Americas was first confirmed in May 2015 in northeast Brazil. Brazil has had the highest number of reported ZIKV cases worldwide (more than 200,000 by 24 December 2016) and the most cases associated with microcephaly and other birth defects (2,366 confirmed by 31 December 2016). Since the initial detection of ZIKV in Brazil, more than 45 countries in the Americas have reported local ZIKV transmission, with 24 of these reporting severe ZIKV-associated disease. However, the origin and epidemic history of ZIKV in Brazil and the Americas remain poorly understood, despite the value of this information for interpreting observed trends in reported microcephaly. Here we address this issue by generating 54 complete or partial ZIKV genomes, mostly from Brazil, and reporting data generated by a mobile genomics laboratory that travelled across northeast Brazil in 2016. One sequence represents the earliest confirmed ZIKV infection in Brazil. Analyses of viral genomes with ecological and epidemiological data yield an estimate that ZIKV was present in northeast Brazil by February 2014 and is likely to have disseminated from there, nationally and internationally, before the first detection of ZIKV in the Americas. Estimated dates for the international spread of ZIKV from Brazil indicate the duration of pre-detection cryptic transmission in recipient regions. The role of northeast Brazil in the establishment of ZIKV in the Americas is further supported by geographic analysis of ZIKV transmission potential and by estimates of the basic reproduction number of the virus.

The Geogenomic Mutational Atlas of Pathogens (GoMAP web system.

Directory of Open Access Journals (Sweden)

David P Sargeant

Full Text Available We present a new approach for pathogen surveillance we call Geogenomics. Geogenomics examines the geographic distribution of the genomes of pathogens, with a particular emphasis on those mutations that give rise to drug resistance. We engineered a new web system called Geogenomic Mutational Atlas of Pathogens (GoMAP that enables investigation of the global distribution of individual drug resistance mutations. As a test case we examined mutations associated with HIV resistance to FDA-approved antiretroviral drugs. GoMAP-HIV makes use of existing public drug resistance and HIV protein sequence data to examine the distribution of 872 drug resistance mutations in ∼ 502,000 sequences for many countries in the world. We also implemented a broadened classification scheme for HIV drug resistance mutations. Several patterns for geographic distributions of resistance mutations were identified by visual mining using this web tool. GoMAP-HIV is an open access web application available at http://www.bio-toolkit.com/GoMap/project/

Molecular analysis of carbon ion-induced mutations in Arabidopsis thaliana

International Nuclear Information System (INIS)

Shikazono, Naoya; Tanaka, Atsushi; Watanabe, Hiroshi; Tano, Shigemitsu; Yokota, Yukihiko

1998-01-01

In order to elucidate the characteristics of the mutations induced by ion particles at the molecular level in plants, mutated loci in carbon ion-induced mutants of Arabidopsis were investigated by PCR and Southern blot analyses. In the present study, two lines of gl1 mutant and two lines of tt4 mutant were isolated after carbon ion-irradiation. Out of four mutants, one had a deletion, other two contained rearrangements, and one had a point-like mutation. From the present result, it was suggested that ion particles induced different kinds of alterations of the DNA and therefore they could produce various types of mutant alleles in plants. (author)

Characterization of carbon ion-induced mutations in Arabidopsis thaliana

International Nuclear Information System (INIS)

Shikazono, N.; Suzuki, C.; Kitamura, S.; Watanabe, H.; Tano, S.; Tanaka, A.

2003-01-01

Full text: Irradiation of Arabidopsis thaliana by carbon ions was carried out to investigate the mutational effect of ion particles in higher plants. The averaged mutation rate of carbon ions was 2.0 X 10 -6 / Gy, which was 18-fold higher than that of electrons. PCR analysis of the carbon ion-induced mutants showed that, out of 28 mutant alleles, 14 had point-like mutations within the gene, while 14 contained large structural alterations. In the case of 12 electron-induced mutants, 9 had point-like mutations within the gene, while 3 contained large structural alterations. These results suggest that carbon ions are more likely to induce large structural alterations compared with electrons. Further sequence analysis revealed that most of the point-like mutations induced by carbon ions were short deletions. In the case of rearrangements, DNA strand breaks were found to be rejoined using, if present, short homologous sequences for both types of radiation. After carbon ion-irradiation, small deletions were frequently observed around the breakpoints, whereas duplications of terminal sequence were found after electron-irradiation. These results suggest that non-homologous end joining (NHEJ) pathway operates after plant cells are exposed to both ion particles and electrons but that different mode of rejoining deals with the broken ends produced by each radiation. From the present results, it seems reasonable to assume that carbon ions could predominantly induce null mutations in Arabidopsis. The fact that the molecular nature of carbon ion-induced mutation was different from that of electrons and that the molecular mechanisms of cells to induce mutations appeared to be also different implicates that ion particle is not only valuable as a new mutagen but also useful as a new tool to study repair mechanisms of certain types of DNA damage

Hemoglobinopathies in newborns from Salvador, Bahia, Northeast Brazil

Directory of Open Access Journals (Sweden)

Adorno Elisângela Vitória

2005-01-01

Full Text Available Hemoglobinopathies are hereditary disorders of the hemoglobin molecule with a high prevalence worldwide. Brazil has a prevalence of 0.1 to 0.3% of newborns with sickle cell anemia and 20.0 to 25.0% of heterozygous alpha2 thalassemia among African Brazilians. In the present study, we investigated the presence of variant hemoglobins and alpha2(3.7 Kb and alpha2(4.2 Kb thalassemia in newborns from Salvador, Bahia, Brazil. Samples of umbilical cord blood from a total of 590 newborns were analyzed, of which 57 (9.8% were FAS; 36 (6.5% FAC; one (0.2% SF; and five (0.9% FSC. One hundred fourteen (22.2% newborns had alpha2(3.7 Kb thalassemia, of whom 101 (19.7% were heterozygous and 13 (2.5% homozygous, showing statistical significance for hematological data between newborns with normal alpha genes and alpha2(3.7 Kb thalassemia carriers. The alpha2(4.2 Kb thalassemia was not found. Frequencies found in the present study confirm that hemoglobinopathies are a public health problem in Brazil, emphasizing the need for neonatal screening and genetic counseling programs.

Rapid identification of HEXA mutations in Tay-Sachs patients.

Science.gov (United States)

Giraud, Carole; Dussau, Jeanne; Azouguene, Emilie; Feillet, François; Puech, Jean-Philippe; Caillaud, Catherine

2010-02-19

Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder due to mutations in the HEXA gene resulting in a beta-hexosaminidase A (Hex A) deficiency. The purpose of this study was to characterize the molecular abnormalities in patients with infantile or later-onset forms of the disease. The complete sequencing of the 14 exons and flanking regions of the HEXA gene was performed with a unique technical condition in 10 unrelated TSD patients. Eleven mutations were identified, including five splice mutations, one insertion, two deletions and three single-base substitutions. Four mutations were novel: two splice mutations (IVS8+5G>A, IVS2+4delAGTA), one missense mutation in exon 6 (c.621T>G (p.D207E)) and one small deletion (c.1211-1212delTG) in exon 11 resulting in a premature stop codon at residue 429. The c.621T>G missense mutation was found in a patient presenting an infantile form. Its putative role in the pathogenesis of TSD is suspected as residue 207 is highly conserved in human, mouse and rat. Moreover, structural modelling predicted changes likely to affect substrate binding and catalytic activity of the enzyme. The time-saving procedure reported here could be useful for the characterization of Tay-Sachs-causing mutations, in particular in non-Ashkenazi patients mainly exhibiting rare mutations. Copyright (c) 2010 Elsevier Inc. All rights reserved.

Radioactive background of Granito Madeira, north Amazonas, Brazil

Energy Technology Data Exchange (ETDEWEB)

Moura, Vanderlei; Pereira, Claubia; Martins, Agnaldo Kenji, E-mail: vandermoura@gmail.com, E-mail: claubia@nuclear.ufmg.br, E-mail: amartins@mtaboca.com.br [Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, MG (Brazil). Departamento de Engenharia Nuclear; Mineracao Taboca S.A., Presidente Figueiredo, AM (Brazil)

2017-11-01

Naturally occurring radionuclides, such as the uranium and thorium decay chains, are present in rocks and soils. But its distribution is not homogeneous: it depends on the type of rock being that those of volcanic origin have higher concentrations of uranium and thorium. These are NORM. Locations with NORM present higher dose rates than the world average. Thus, the determination of the natural radioactivity of a NORM region is of extreme importance since it provides data for the estimation of human exposure to natural radiation. In addition, if there is a mining company exploring NORM, the background radiation estimation should be considered in the decommissioning and future planning. There are places in Brazil, such as Granito Madeira in the state of Amazonas, in the north of Brazil, where NORM is present. It is an extremely remote area located within the Amazon Forest currently in the process of open cast mining. In this study, the iodide scintillator detector was used to measure and map the natural background radiation of the Granito Madeira using a scintillator detector of sodium iodide that was transported in tracks within the forest. The data obtained were georeferenced, classified and used to obtain the annual dose related to gamma radiation. The results are presented in frequency histograms and maps. The annual average was (6.0 ± 3.0) mSv.y{sup -1}. These data were compared to those available from other regions with NORM in Brazil and the 2010 UNSCEAR report. (author)

Radioactive background of Granito Madeira, north Amazonas, Brazil

International Nuclear Information System (INIS)

Moura, Vanderlei; Pereira, Claubia; Martins, Agnaldo Kenji

2017-01-01

Naturally occurring radionuclides, such as the uranium and thorium decay chains, are present in rocks and soils. But its distribution is not homogeneous: it depends on the type of rock being that those of volcanic origin have higher concentrations of uranium and thorium. These are NORM. Locations with NORM present higher dose rates than the world average. Thus, the determination of the natural radioactivity of a NORM region is of extreme importance since it provides data for the estimation of human exposure to natural radiation. In addition, if there is a mining company exploring NORM, the background radiation estimation should be considered in the decommissioning and future planning. There are places in Brazil, such as Granito Madeira in the state of Amazonas, in the north of Brazil, where NORM is present. It is an extremely remote area located within the Amazon Forest currently in the process of open cast mining. In this study, the iodide scintillator detector was used to measure and map the natural background radiation of the Granito Madeira using a scintillator detector of sodium iodide that was transported in tracks within the forest. The data obtained were georeferenced, classified and used to obtain the annual dose related to gamma radiation. The results are presented in frequency histograms and maps. The annual average was (6.0 ± 3.0) mSv.y"-"1. These data were compared to those available from other regions with NORM in Brazil and the 2010 UNSCEAR report. (author)

Diagnostic X-ray equipment evaluation in Brazil

International Nuclear Information System (INIS)

Campos de Araujo, A.M.; Peixoto, J.E.; Reis, V.R.G.

1980-01-01

A survey of the diagnostic X-ray equipment in use in Brazil is presented. Procedures for testing radiation quality (kilovoltage and filtration), tube output, beam collimation and protection devices are described and results of tests are tabulated. (H.K.)

Analysis of polymorphisms in Plasmodium falciparum genes related to drug resistance: a survey over four decades under different treatment policies in Brazil.

Science.gov (United States)

Inoue, Juliana; Lopes, Dinora; do Rosário, Virgílio; Machado, Marta; Hristov, Angélica D; Lima, Giselle Fmc; Costa-Nascimento, Maria J; Segurado, Aluísio C; Di Santi, Silvia M

2014-09-19

Anti-malarial resistance in Plasmodium falciparum remains an obstacle for malaria control. Resistance-associated genes were analysed in Brazilian samples over four decades to evaluate the impact of different treatment regimens on the parasite genetic profile. Samples were collected on filter paper from patients infected in the Amazon region from 1984 to 2011. DNA was extracted with Chelex® 100 and monoinfection confirmed by PCR. SNPs in the pfcrt, pfmdr1, pfdhfr and pfdhps genes were assessed by PCR-RFLP. The pfmdr1 copy number was estimated using real time quantitative PCR with SYBR® Green. Parasite response was assessed ex vivo with seven concentrations of each anti-malarial. Patients were treated according to Brazilian guidelines: quinine plus tetracycline or mefloquine in period 1 and ACT in period 2. All 96 samples presented the pfcrt 76T mutant throughout the assessed periods. In addition, all isolates showed ex vivo chloroquine resistance. The pfmdr1 86Y was detected in 1.5% of samples in period 1, and in 25% in period 2. All samples presented the pfmdr1 1246Y. The analysis of pfmdr1 copy number showed amplification in 37.3% in period 1 and in 42% in period 2. Mutations in pfdhfr were shown as follows: 51I in all samples in period 1 and in 81.2% in period 2; 59R in 6.4% in period 2. The pfdhfr 108N and the pfdhps 437G were seen in all samples along time; the pfdhps 540E in 93.7% in period 1 and in 75% in period 2. The 76T mutation associated to chloroquine resistance is still present in the parasite population, although this anti-malarial was withdrawn from the chemotherapy of P. falciparum in Brazil in the mid-1980s. All isolates assayed ex vivo for chloroquine showed resistant phenotype and 76T. No association was observed between pfmdr1 mutations and resistance to quinine, mefloquine and artemisinin derivatives. Additionally, the pfdhfr 108N mutation was detected in all samples throughout the evaluated periods, demonstrating fixation of the mutant

Noonan syndrome: Severe phenotype and PTPN11 mutations.

Science.gov (United States)

Carrasco Salas, Pilar; Gómez-Molina, Gertrudis; Carreto-Alba, Páxedes; Granell-Escobar, Reyes; Vázquez-Rico, Ignacio; León-Justel, Antonio

2018-04-24

Noonan syndrome (NS) is a genetic disorder characterized by a wide range of distinctive features and health problems. It caused in 50% of cases by missense mutations in PTPN11 gene. It has been postulated that it is possible to predict the disease course based into the impact of mutations on the protein. We report two cases of severe NS phenotype including hydrops fetalis. PTPN11 gene was studied in germinal cells of both patients by sequencing. Two different mutations (p.Gly503Arg and p.Met504Val) was detected in PTPN11 gene. These mutations have been reported previously, and when they were germinal variants, patients presented classic NS, NS with other malignancies and recently, p.Gly503Arg has been also observed in a patient with severe NS and hydrops fetalis, as our cases. Therefore, these observations shade light on that it is not always possibly to determine the genotype-phenotype relation based into the impact of mutations on the protein in NS patients with PTPN11 mutations. Copyright © 2018 Elsevier España, S.L.U. All rights reserved.

Regional safeguards arrangements: The Argentina-Brazil experience

International Nuclear Information System (INIS)

Marzo, M.; Gonzales, H.L.; Iskin, M.C.L.; Vicens, H.

1997-01-01

A Common System of Accounting and Control of Nuclear Material (SCCC) was established by Argentina and Brazil in July 1992. It is a full scope safeguard's system in both countries. The Brazilian-Argentine Agency for Accounting and Control of Nuclear Materials (ABACC) was created to apply the SCCC. The main elements of the SCCC are presented. The main safeguards' procedures are described. A brief discussion of the inspection methodology and its impact for facility operators is performed. The safeguard's implementation from the operator's point of view is commented, taking as example a fuel fabrication plant in Argentina and a uranium enrichment plant in Brazil. (author)

Spectrum of K ras mutations in Pakistani colorectal cancer patients

International Nuclear Information System (INIS)

Murtaza, B.N.; Bibi, A.; Rashid, M.U.; Khan, Y.I.; Chaudri, M.S.; Shakoori, A.R.

2013-01-01

The incidence of colorectal cancer (CRC) is increasing daily worldwide. Although different aspects of CRC have been studied in other parts of the world, relatively little or almost no information is available in Pakistan about different aspects of this disease at the molecular level. The present study was aimed at determining the frequency and prevalence of K ras gene mutations in Pakistani CRC patients. Tissue and blood samples of 150 CRC patients (64% male and 36% female) were used for PCR amplification of K ras and detection of mutations by denaturing gradient gel electrophoresis, restriction fragment length polymorphism analysis, and nucleotide sequencing. The K ras mutation frequency was found to be 13%, and the most prevalent mutations were found at codons 12 and 13. A novel mutation was also found at codon 31. The dominant mutation observed was a G to A transition. Female patients were more susceptible to K ras mutations, and these mutations were predominant in patients with a nonmetastatic stage of CRC. No significant differences in the prevalence of K ras mutations were observed for patient age, gender, or tumor type. It can be inferred from this study that Pakistani CRC patients have a lower frequency of K ras mutations compared to those observed in other parts of the world, and that K ras mutations seemed to be significantly associated with female patients

Spectrum of K ras mutations in Pakistani colorectal cancer patients

Energy Technology Data Exchange (ETDEWEB)

Murtaza, B.N.; Bibi, A. [School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore (Pakistan); Rashid, M.U.; Khan, Y.I. [Shaukat Khanum Memorial Cancer Hospital and Research Centre, Johar Town, Lahore (Pakistan); Chaudri, M.S. [Services Institute of Medical Sciences, Lahore (Pakistan); Shakoori, A.R. [School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore (Pakistan)

2013-11-29

The incidence of colorectal cancer (CRC) is increasing daily worldwide. Although different aspects of CRC have been studied in other parts of the world, relatively little or almost no information is available in Pakistan about different aspects of this disease at the molecular level. The present study was aimed at determining the frequency and prevalence of K ras gene mutations in Pakistani CRC patients. Tissue and blood samples of 150 CRC patients (64% male and 36% female) were used for PCR amplification of K ras and detection of mutations by denaturing gradient gel electrophoresis, restriction fragment length polymorphism analysis, and nucleotide sequencing. The K ras mutation frequency was found to be 13%, and the most prevalent mutations were found at codons 12 and 13. A novel mutation was also found at codon 31. The dominant mutation observed was a G to A transition. Female patients were more susceptible to K ras mutations, and these mutations were predominant in patients with a nonmetastatic stage of CRC. No significant differences in the prevalence of K ras mutations were observed for patient age, gender, or tumor type. It can be inferred from this study that Pakistani CRC patients have a lower frequency of K ras mutations compared to those observed in other parts of the world, and that K ras mutations seemed to be significantly associated with female patients.

Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma.

Science.gov (United States)

Chen, Xue; Zhang, Yang; Wang, Fang; Wang, Mangju; Teng, Wen; Lin, Yuehui; Han, Xiangping; Jin, Fangyuan; Xu, Yuanli; Cao, Panxiang; Fang, Jiancheng; Zhu, Ping; Tong, Chunrong; Liu, Hongxing

2017-11-01

Certain patients with lymphoma may harbor mutations in perforin 1 (PRF1), unc-13 homolog D (UNC13D), syntaxin 11 (STX11), STXBP2 (syntaxin binding protein 2) or SH2 domain containing 1A (SH2D1A), which causes functional defects of cytotoxic lymphocytes. Data regarding the association between genetic defects and the development of lymphoma in Chinese patients are limited to date. In the present study, 90 patients with lymphoma were analyzed for UNC13D, PRF1, STXBP2, STX11, SH2D1A and X-linked inhibitor of apoptosis. Mutations were observed in 24 (26.67%) patients; 16 patients exhibited mutations in UNC13D, 7 exhibited PRF1 mutations, and 1 exhibited monoallelic mutation in STX11. UNC13D c.2588G>A/p.G863D mutation was detected in 9 patients (10.00%) and in 4/210 controls (1.90%). This mutation was predicted to be pathogenic and it predominantly existed in the Chinese population. These findings suggest that impaired cytotoxic machinery may represent a predisposing factor for the development of lymphoma. Furthermore, these data describe a distinct mutation spectrum in Chinese patients with lymphoma, whereby UNC13D is the most frequently mutated gene. In addition, these findings suggest UNC13D c.2588G>A mutation is a founder mutation in Chinese patients.

Laser desorption mass spectrometry for point mutation detection

Energy Technology Data Exchange (ETDEWEB)

Taranenko, N.I.; Chung, C.N.; Zhu, Y.F. [Oak Ridge National Lab., TN (United States)] [and others

1996-10-01

A point mutation can be associated with the pathogenesis of inherited or acquired diseases. Laser desorption mass spectrometry coupled with allele specific polymerase chain reaction (PCR) was first used for point mutation detection. G551D is one of several mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene present in 1-3% of the mutant CFTR alleles in most European populations. In this work, two different approaches were pursued to detect G551D point mutation in the cystic fibrosis gene. The strategy is to amplify the desired region of DNA template by PCR using two primers that overlap one base at the site of the point mutation and which vary in size. If the two primers based on the normal sequence match the target DNA sequence, a normal PCR product will be produced. However, if the alternately sized primers that match the mutant sequence recognize the target DNA, an abnormal PCR product will be produced. Thus, the mass spectrometer can be used to identify patients that are homozygous normal, heterozygous for a mutation or homozygous abnormal at a mutation site. Another approach to identify similar mutations is the use of sequence specific restriction enzymes which respond to changes in the DNA sequence. Mass spectrometry is used to detect the length of the restriction fragments generated by digestion of a PCR generated target fragment. 21 refs., 10 figs., 2 tabs.

Performance of mitochondrial DNA mutations detecting early stage cancer

International Nuclear Information System (INIS)

Jakupciak, John P; Srivastava, Sudhir; Sidransky, David; O'Connell, Catherine D; Maragh, Samantha; Markowitz, Maura E; Greenberg, Alissa K; Hoque, Mohammad O; Maitra, Anirban; Barker, Peter E; Wagner, Paul D; Rom, William N

2008-01-01

Mutations in the mitochondrial genome (mtgenome) have been associated with cancer and many other disorders. These mutations can be point mutations or deletions, or admixtures (heteroplasmy). The detection of mtDNA mutations in body fluids using resequencing microarrays, which are more sensitive than other sequencing methods, could provide a strategy to measure mutation loads in remote anatomical sites. We determined the mtDNA mutation load in the entire mitochondrial genome of 26 individuals with different early stage cancers (lung, bladder, kidney) and 12 heavy smokers without cancer. MtDNA was sequenced from three matched specimens (blood, tumor and body fluid) from each cancer patient and two matched specimens (blood and sputum) from smokers without cancer. The inherited wildtype sequence in the blood was compared to the sequences present in the tumor and body fluid, detected using the Affymetrix Genechip ® Human Mitochondrial Resequencing Array 1.0 and supplemented by capillary sequencing for noncoding region. Using this high-throughput method, 75% of the tumors were found to contain mtDNA mutations, higher than in our previous studies, and 36% of the body fluids from these cancer patients contained mtDNA mutations. Most of the mutations detected were heteroplasmic. A statistically significantly higher heteroplasmy rate occurred in tumor specimens when compared to both body fluid of cancer patients and sputum of controls, and in patient blood compared to blood of controls. Only 2 of the 12 sputum specimens from heavy smokers without cancer (17%) contained mtDNA mutations. Although patient mutations were spread throughout the mtDNA genome in the lung, bladder and kidney series, a statistically significant elevation of tRNA and ND complex mutations was detected in tumors. Our findings indicate comprehensive mtDNA resequencing can be a high-throughput tool for detecting mutations in clinical samples with potential applications for cancer detection, but it is

Molecular Clock of Neutral Mutations in a Fitness-Increasing Evolutionary Process.

Science.gov (United States)

Kishimoto, Toshihiko; Ying, Bei-Wen; Tsuru, Saburo; Iijima, Leo; Suzuki, Shingo; Hashimoto, Tomomi; Oyake, Ayana; Kobayashi, Hisaka; Someya, Yuki; Narisawa, Dai; Yomo, Tetsuya

2015-07-01

The molecular clock of neutral mutations, which represents linear mutation fixation over generations, is theoretically explained by genetic drift in fitness-steady evolution or hitchhiking in adaptive evolution. The present study is the first experimental demonstration for the molecular clock of neutral mutations in a fitness-increasing evolutionary process. The dynamics of genome mutation fixation in the thermal adaptive evolution of Escherichia coli were evaluated in a prolonged evolution experiment in duplicated lineages. The cells from the continuously fitness-increasing evolutionary process were subjected to genome sequencing and analyzed at both the population and single-colony levels. Although the dynamics of genome mutation fixation were complicated by the combination of the stochastic appearance of adaptive mutations and clonal interference, the mutation fixation in the population was simply linear over generations. Each genome in the population accumulated 1.6 synonymous and 3.1 non-synonymous neutral mutations, on average, by the spontaneous mutation accumulation rate, while only a single genome in the population occasionally acquired an adaptive mutation. The neutral mutations that preexisted on the single genome hitchhiked on the domination of the adaptive mutation. The successive fixation processes of the 128 mutations demonstrated that hitchhiking and not genetic drift were responsible for the coincidence of the spontaneous mutation accumulation rate in the genome with the fixation rate of neutral mutations in the population. The molecular clock of neutral mutations to the fitness-increasing evolution suggests that the numerous neutral mutations observed in molecular phylogenetic trees may not always have been fixed in fitness-steady evolution but in adaptive evolution.

Molecular Clock of Neutral Mutations in a Fitness-Increasing Evolutionary Process.

Directory of Open Access Journals (Sweden)

Toshihiko Kishimoto

2015-07-01

Full Text Available The molecular clock of neutral mutations, which represents linear mutation fixation over generations, is theoretically explained by genetic drift in fitness-steady evolution or hitchhiking in adaptive evolution. The present study is the first experimental demonstration for the molecular clock of neutral mutations in a fitness-increasing evolutionary process. The dynamics of genome mutation fixation in the thermal adaptive evolution of Escherichia coli were evaluated in a prolonged evolution experiment in duplicated lineages. The cells from the continuously fitness-increasing evolutionary process were subjected to genome sequencing and analyzed at both the population and single-colony levels. Although the dynamics of genome mutation fixation were complicated by the combination of the stochastic appearance of adaptive mutations and clonal interference, the mutation fixation in the population was simply linear over generations. Each genome in the population accumulated 1.6 synonymous and 3.1 non-synonymous neutral mutations, on average, by the spontaneous mutation accumulation rate, while only a single genome in the population occasionally acquired an adaptive mutation. The neutral mutations that preexisted on the single genome hitchhiked on the domination of the adaptive mutation. The successive fixation processes of the 128 mutations demonstrated that hitchhiking and not genetic drift were responsible for the coincidence of the spontaneous mutation accumulation rate in the genome with the fixation rate of neutral mutations in the population. The molecular clock of neutral mutations to the fitness-increasing evolution suggests that the numerous neutral mutations observed in molecular phylogenetic trees may not always have been fixed in fitness-steady evolution but in adaptive evolution.

Rare adverse events associated with oral poliovirus vaccine in Brazil

Directory of Open Access Journals (Sweden)

Friedrich F.

1997-01-01

Full Text Available Oral poliovirus vaccine (OPV developed by A. Sabin has been effectively used to control poliomyelitis in Brazil, and the last case with the isolation of a wild poliovirus strain occurred in March 1989. Although the vaccine controlled the circulation of wild strains and poliomyelitis cases associated with these strains were not detected during the last eight years, rare cases classified as vaccine-associated paralytic poliomyelitis (VAPP have been detected. Molecular characterization studies of poliovirus strains isolated from VAPP cases and from healthy contacts have confirmed that the isolates are derived from the Sabin vaccine strains and also detected genomic modifications known or suspected to increase neurovirulence such as mutations and recombination. The molecular characterization of polioviruses isolated during the last eight years from paralysis cases classified as Guillain-Barré (GBS syndrome and transverse myelitits (TM, and from facial paralysis (FP cases also confirmed the vaccine origin of the strains and demonstrated mutations known to increase neurovirulence. Analysis of the epidemiologic data of these GBS, TM and FP cases demonstrated that in most of them the last OPV dose was given months or years before the onset of the disease and the isolation of the polioviruses. The temporal association between the isolation of these strains and the GBS, TM and FP suggested that the Sabin vaccine-derived poliovirus strains could also rarely trigger the diseases.

DNA methylation patterns of candidate genes regulated by thymine DNA glycosylase in patients with TP53 germline mutations

Energy Technology Data Exchange (ETDEWEB)

Fortes, F.P. [CIPE, Laboratrio de Oncogentica Molecular, A.C. Camargo Cancer Center, São Paulo, SP (Brazil); Kuasne, H. [CIPE, Laboratrio NeoGene, A.C. Camargo Cancer Center, São Paulo, SP (Brazil); Departamento de Urologia, Faculdade de Medicina, Universidade Estadual Paulista, Botucatu, SP (Brazil); Marchi, F.A. [CIPE, Laboratrio NeoGene, A.C. Camargo Cancer Center, São Paulo, SP (Brazil); Programa Inter-Institucional em Bioinformtica, Instituto de Matemtica e Estatstica, Universidade So Paulo, So Paulo, SP (Brazil); Miranda, P.M. [CIPE, Laboratrio NeoGene, A.C. Camargo Cancer Center, São Paulo, SP (Brazil); Rogatto, S.R. [CIPE, Laboratrio NeoGene, A.C. Camargo Cancer Center, São Paulo, SP (Brazil); Departamento de Urologia, Faculdade de Medicina, Universidade Estadual Paulista, Botucatu, SP (Brazil); Achatz, M.I. [CIPE, Laboratrio de Oncogentica Molecular, A.C. Camargo Cancer Center, São Paulo, SP (Brazil); Departamento de Oncogentica, A.C. Camargo Cancer Center, So Paulo, SP (Brazil)

2015-04-28

Li-Fraumeni syndrome (LFS) is a rare, autosomal dominant, hereditary cancer predisposition disorder. In Brazil, the p.R337H TP53 founder mutation causes the variant form of LFS, Li-Fraumeni-like syndrome. The occurrence of cancer and age of disease onset are known to vary, even in patients carrying the same mutation, and several mechanisms such as genetic and epigenetic alterations may be involved in this variability. However, the extent of involvement of such events has not been clarified. It is well established that p53 regulates several pathways, including the thymine DNA glycosylase (TDG) pathway, which regulates the DNA methylation of several genes. This study aimed to identify the DNA methylation pattern of genes potentially related to the TDG pathway (CDKN2A, FOXA1, HOXD8, OCT4, SOX2, and SOX17) in 30 patients with germline TP53mutations, 10 patients with wild-type TP53, and 10 healthy individuals. We also evaluated TDG expression in patients with adrenocortical tumors (ADR) with and without the p.R337H TP53 mutation. Gene methylation patterns of peripheral blood DNA samples assessed by pyrosequencing revealed no significant differences between the three groups. However, increased TDG expression was observed by quantitative reverse transcription PCR in p.R337H carriers with ADR. Considering the rarity of this phenotype and the relevance of these findings, further studies using a larger sample set are necessary to confirm our results.

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

Science.gov (United States)

Krieger, Michael; Roos, Andreas; Stendel, Claudia; Claeys, Kristl G; Sonmez, Fatma Mujgan; Baudis, Michael; Bauer, Peter; Bornemann, Antje; de Goede, Christian; Dufke, Andreas; Finkel, Richard S; Goebel, Hans H; Häussler, Martin; Kingston, Helen; Kirschner, Janbernd; Medne, Livija; Muschke, Petra; Rivier, François; Rudnik-Schöneborn, Sabine; Spengler, Sabrina; Inzana, Francesca; Stanzial, Franco; Benedicenti, Francesco; Synofzik, Matthis; Lia Taratuto, Ana; Pirra, Laura; Tay, Stacey Kiat-Hong; Topaloglu, Haluk; Uyanik, Gökhan; Wand, Dorothea; Williams, Denise; Zerres, Klaus; Weis, Joachim; Senderek, Jan

2013-12-01

Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjögren syndrome. Here we describe the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy or combinations of at least two of these. We obtained a mutation detection rate of 60% (15/25) among patients with the characteristic Marinesco-Sjögren syndrome triad (ataxia, cataracts, myopathy) whereas the detection rate in the group of patients with more variable phenotypic presentation was below 3% (1/37). We report 16 unrelated families with a total of 19 different SIL1 mutations. Among these mutations are 15 previously unreported changes, including single- and multi-exon deletions. Based on data from our screening cohort and data compiled from the literature we found that SIL1 mutations are invariably associated with the combination of a cerebellar syndrome and chronic myopathy. Cataracts were observed in all patients beyond the age of 7 years, but might be missing in infants. Six patients with SIL1 mutations had no intellectual disability, extending the known wide range of cognitive capabilities in Marinesco-Sjögren syndrome to include normal intelligence. Modestly constant features were somatic growth retardation, skeletal abnormalities and pyramidal tract signs. Examination of mutant SIL1 expression in cultured patient lymphoblasts suggested that SIL1 mutations result in severely reduced SIL1 protein levels irrespective of the type and position of mutations. Our data broaden the SIL1 mutation spectrum and confirm that SIL1 is the major Marinesco-Sjögren syndrome gene. SIL1 patients usually present with the characteristic triad but cataracts might be

Deletion mutations of bacteriophage

International Nuclear Information System (INIS)

Ryo, Yeikou

1975-01-01

Resolution of mutation mechanism with structural changes of DNA was discussed through the studies using bacteriophage lambda. One of deletion mutations inductions of phage lambda is the irradiation of ultraviolet ray. It is not clear if the inductions are caused by errors in reparation of ultraviolet-induced damage or by the activation of int gene. Because the effective site of int gene lies within the regions unnecessary for existing, it is considered that int gene is connected to deletion mutations induction. A certain system using prophage complementarity enables to detect deletion mutations at essential hereditary sites and to solve the relations of deletion mutations with other recombination system, DNA reproduction and repairment system. Duplication and multiplication of hereditary elements were discussed. If lambda deletion mutations of the system, which can control recombination, reproduction and repairment of added DNA, are constructed, mutations mechanism with great changes of DNA structure can be solved by phage lambda. (Ichikawa, K.)

Leucocytes Mutation load Declines with Age in Carriers of the m.3243A>G Mutation

DEFF Research Database (Denmark)

Langdahl, Jakob Høgild; Larsen, Martin; Frost, Morten

2018-01-01

Carriers of the mitochondrial mutation m.3243A>G presents highly variable phenotypes including mitochondrial encephalomyopaty, lactoacidosis and stroke-like episodes (MELAS). We conducted a follow-up study to evaluate changes in leucocyte heteroplasmy and the clinical phenotypes in m.3243A...

HFE Gene Mutations and Iron Status in 100 Healthy Polish Children.

Science.gov (United States)

Kaczorowska-Hac, Barbara; Luszczyk, Marcin; Antosiewicz, Jedrzej; Ziolkowski, Wieslaw; Adamkiewicz-Drozynska, Elzbieta; Mysliwiec, Malgorzata; Milosz, Ewa; Kaczor, Jan J

2017-07-01

Iron participates in oxygen transport, energetic, metabolic, and immunologic processes. There are 2 main causes of iron overload: hereditary hemochromatosis which is a primary cause, is a metabolic disorder caused by mutations of genes that control iron metabolism and secondary hemochromatosis caused by multitransfusions, chronic hemolysis, and intake of iron rich food. The most common type of hereditary hemochromatosis is caused by HFE gene mutation. In this study, we analyzed iron metabolism in 100 healthy Polish children in relation to their HFE gene status. The wild-type HFE gene was predominant being observed in 60 children (60%). Twenty-five children (25%), presented with heterozygotic H63D mutation, and 15 children (15%), presented with other mutations (heterozygotic C282Y and S65C mutation, compound heterozygotes C282Y/S65C, C282Y/H63D, H63D homozygote). The mean concentration of iron, the level of ferritin, and transferrin saturation were statistically higher in the group of HFE variants compared with the wild-type group. H63D carriers presented with higher mean concentration of iron, ferritin levels, and transferrin saturation compared with the wild-type group. Male HFE carriers presented with higher iron concentration, transferrin saturation, and ferritin levels than females. This preliminary investigation demonstrates allelic impact on potential disease progression from childhood.

A perspective on competitiveness of Brazil in the global supply of biomass

Directory of Open Access Journals (Sweden)

Javier Cárcel Carrasco

2012-12-01

Full Text Available In this paper we intend to present an integrated view of biomass production in Brazil. By analyzing biomass potential and biomass production costs we seek to present a broad view of Brazilian competitiveness in the domestic and global energy markets. By mapping out this potential, we want to present the main opportunities for Brazil in its quest for cleaner, more competitive and more sustainable fuel sources. Our estimate of the potential represents almost double the volume that the country produced in 2010. This should enable Brazil to meet 30% of global demand for biomass by 2035. As regards production costs and profits, dedicated biomass has trading conditions to yield the same or more than the most profitable products in the sector such as sugarcane, soybeans or wood. Compared with fossil fuels, the cost of biomass is equivalent to an oil barrel below R$ 40.00, although adequate logistics is crucial for the economic feasibility of biomass utilization. Global demand for biomass will increase in the coming years, both for conventional and modern uses, such as second generation biofuels or biomass gasification. Due to its agricultural potential, Brazil could become a major biomass producer, with great economic and environmental advantages in a world increasingly concerned with sustainability and climate change.

Social balance sheet 2000 of COPEL - Electrical Company of Parana State, Brazil

International Nuclear Information System (INIS)

Anon

2000-01-01

The COPEL - Electrical Company of Parana State, Brazil social balance report of calendar year of 2000 is presented, covering the following topics: COPEL - standing for much more than energy; extending the benefits of electricity to everyone in Parana state, Brazil; protecting and recovering the environment; philanthropy and volunteer work; education; social integration; support to cultural expression and gratitude

Calreticulin Mutations in Myeloproliferative Neoplasms

Directory of Open Access Journals (Sweden)

Noa Lavi

2014-10-01

Full Text Available With the discovery of the JAK2V617F mutation in patients with Philadelphia chromosome-negative (Ph− myeloproliferative neoplasms (MPNs in 2005, major advances have been made in the diagnosis of MPNs, in understanding of their pathogenesis involving the JAK/STAT pathway, and finally in the development of novel therapies targeting this pathway. Nevertheless, it remains unknown which mutations exist in approximately one-third of patients with non-mutated JAK2 or MPL essential thrombocythemia (ET and primary myelofibrosis (PMF. At the end of 2013, two studies identified recurrent mutations in the gene encoding calreticulin (CALR using whole-exome sequencing. These mutations were revealed in the majority of ET and PMF patients with non-mutated JAK2 or MPL but not in polycythemia vera patients. Somatic 52-bp deletions (type 1 mutations and recurrent 5-bp insertions (type 2 mutations in exon 9 of the CALR gene (the last exon encoding the C-terminal amino acids of the protein calreticulin were detected and found always to generate frameshift mutations. All detected mutant calreticulin proteins shared a novel amino acid sequence at the C-terminal. Mutations in CALR are acquired early in the clonal history of the disease, and they cause activation of JAK/STAT signaling. The CALR mutations are the second most frequent mutations in Ph− MPN patients after the JAK2V617F mutation, and their detection has significantly improved the diagnostic approach for ET and PMF. The characteristics of the CALR mutations as well as their diagnostic, clinical, and pathogenesis implications are discussed in this review.

Somatic frameshift mutations in the Bloom syndrome BLM gene are frequent in sporadic gastric carcinomas with microsatellite mutator phenotype

Directory of Open Access Journals (Sweden)

Matei Irina

2001-08-01

Full Text Available Abstract Background Genomic instability has been reported at microsatellite tracts in few coding sequences. We have shown that the Bloom syndrome BLM gene may be a target of microsatelliteinstability (MSI in a short poly-adenine repeat located in its coding region. To further characterize the involvement of BLM in tumorigenesis, we have investigated mutations in nine genes containing coding microsatellites in microsatellite mutator phenotype (MMP positive and negative gastric carcinomas (GCs. Methods We analyzed 50 gastric carcinomas (GCs for mutations in the BLM poly(A tract aswell as in the coding microsatellites of the TGFβ1-RII, IGFIIR, hMSH3, hMSH6, BAX, WRN, RECQL and CBL genes. Results BLM mutations were found in 27% of MMP+ GCs (4/15 cases but not in any of the MMP negative GCs (0/35 cases. The frequency of mutations in the other eight coding regions microsatellite was the following: TGFβ1-RII (60 %, BAX (27%, hMSH6 (20%,hMSH3 (13%, CBL (13%, IGFIIR (7%, RECQL (0% and WRN (0%. Mutations in BLM appear to be more frequently associated with frameshifts in BAX and in hMSH6and/or hMSH3. Tumors with BLM alterations present a higher frequency of unstable mono- and trinucleotide repeats located in coding regions as compared with mutator phenotype tumors without BLM frameshifts. Conclusions BLM frameshifts are frequent alterations in GCs specifically associated with MMP+tumors. We suggest that BLM loss of function by MSI may increase the genetic instability of a pre-existent unstable genotype in gastric tumors.

Somatic frameshift mutations in the Bloom syndrome BLM gene are frequent in sporadic gastric carcinomas with microsatellite mutator phenotype

Science.gov (United States)

Calin, George; Ranzani, Guglielmina N; Amadori, Dino; Herlea, Vlad; Matei, Irina; Barbanti-Brodano, Giuseppe; Negrini, Massimo

2001-01-01

Background Genomic instability has been reported at microsatellite tracts in few coding sequences. We have shown that the Bloom syndrome BLM gene may be a target of microsatelliteinstability (MSI) in a short poly-adenine repeat located in its coding region. To further characterize the involvement of BLM in tumorigenesis, we have investigated mutations in nine genes containing coding microsatellites in microsatellite mutator phenotype (MMP) positive and negative gastric carcinomas (GCs). Methods We analyzed 50 gastric carcinomas (GCs) for mutations in the BLM poly(A) tract aswell as in the coding microsatellites of the TGFβ1-RII, IGFIIR, hMSH3, hMSH6, BAX, WRN, RECQL and CBL genes. Results BLM mutations were found in 27% of MMP+ GCs (4/15 cases) but not in any of the MMP negative GCs (0/35 cases). The frequency of mutations in the other eight coding regions microsatellite was the following: TGFβ1-RII (60 %), BAX (27%), hMSH6 (20%),hMSH3 (13%), CBL (13%), IGFIIR (7%), RECQL (0%) and WRN (0%). Mutations in BLM appear to be more frequently associated with frameshifts in BAX and in hMSH6and/or hMSH3. Tumors with BLM alterations present a higher frequency of unstable mono- and trinucleotide repeats located in coding regions as compared with mutator phenotype tumors without BLM frameshifts. Conclusions BLM frameshifts are frequent alterations in GCs specifically associated with MMP+tumors. We suggest that BLM loss of function by MSI may increase the genetic instability of a pre-existent unstable genotype in gastric tumors. PMID:11532193

HFE gene mutations and Wilson's disease in Sardinia.

Science.gov (United States)

Sorbello, Orazio; Sini, Margherita; Civolani, Alberto; Demelia, Luigi

2010-03-01

Hypocaeruloplasminaemia can lead to tissue iron storage in Wilson's disease and the possibility of iron overload in long-term overtreated patients should be considered. The HFE gene encodes a protein that is intimately involved in intestinal iron absorption. The aim of this study was to determine the prevalence of the HFE gene mutation, its role in iron metabolism of Wilson's disease patients and the interplay of therapy in copper and iron homeostasis. The records of 32 patients with Wilson's disease were reviewed for iron and copper indices, HFE gene mutations and liver biopsy. Twenty-six patients were negative for HFE gene mutations and did not present significant alterations of iron metabolism. The HFE mutation was significantly associated with increased hepatic iron content (PHFE gene wild-type. The HFE gene mutations may be an addictional factor in iron overload in Wilson's disease. Our results showed that an adjustment of dosage of drugs could prevent further iron overload induced by overtreatment only in patients HFE wild-type. 2009. Published by Elsevier Ltd.

Grapes, wine and cultural identity at Serra Gaúcha (RS, Brazil

Directory of Open Access Journals (Sweden)

Joice Lavandoski

2012-09-01

Full Text Available The article aims to understand the relevance of wine production at Serra Gaúcha region (Rio Grande State, Brazil and unveil the role played by grapes and wine for XIXth century Italian migrants as for their contemporary descendents. A research was conducted at Vale dos Vinhedos (Vineyards Valley,(RS, Brazil, where a strong relation between wine and tourism exists. Bibliographical research, oral history and semi- structured interviews permitted the construction of a collective subject discourse. As a result it was revealed that wine production was important at first for subsistence and also a way to promote economic growth; at present, grapes and wine are cultural identity markers with which community members present themselves to tourist and visitors. It is a case study without intention of generalizing for other wine regions in Brazil and brings a new approach to tourism and heritage relations.

Molecular characteristics of the KCNJ5 mutated aldosterone-producing adenomas.

Science.gov (United States)

Murakami, Masanori; Yoshimoto, Takanobu; Nakabayashi, Kazuhiko; Nakano, Yujiro; Fukaishi, Takahiro; Tsuchiya, Kyoichiro; Minami, Isao; Bouchi, Ryotaro; Okamura, Kohji; Fujii, Yasuhisa; Hashimoto, Koshi; Hata, Ken-Ichiro; Kihara, Kazunori; Ogawa, Yoshihiro

2017-10-01

The pathophysiology of aldosterone-producing adenomas (APAs) has been investigated via genetic approaches and the pathogenic significance of a series of somatic mutations, including KCNJ5 , has been uncovered. However, how the mutational status of an APA is associated with its molecular characteristics, including its transcriptome and methylome, has not been fully understood. This study was undertaken to explore the molecular characteristics of APAs, specifically focusing on APAs with KCNJ5 mutations as opposed to those without KCNJ5 mutations, by comparing their transcriptome and methylome status. Cortisol-producing adenomas (CPAs) were used as reference. We conducted transcriptome and methylome analyses of 29 APAs with KCNJ5 mutations, 8 APAs without KCNJ5 mutations and 5 CPAs. Genome-wide gene expression and CpG methylation profiles were obtained from RNA and DNA samples extracted from these 42 adrenal tumors. Cluster analysis of the transcriptome and methylome revealed molecular heterogeneity in APAs depending on their mutational status. DNA hypomethylation and gene expression changes in Wnt signaling and inflammatory response pathways were characteristic of APAs with KCNJ5 mutations. Comparisons between transcriptome data from our APAs and that from normal adrenal cortex obtained from the Gene Expression Omnibus suggested similarities between APAs with KCNJ5 mutations and zona glomerulosa. The present study, which is based on transcriptome and methylome analyses, indicates the molecular heterogeneity of APAs depends on their mutational status. Here, we report the unique characteristics of APAs with KCNJ5 mutations. © 2017 Society for Endocrinology.

Enhancing information for solar and wind energy technology deployment in Brazil

Energy Technology Data Exchange (ETDEWEB)

Ramos Martins, Fernando, E-mail: fernando.martins@inpe.br [Centro de Ciencia do Sistema Terrestre-Instituto Nacisonal de Pesquisas Espaciais (Earth System Center-National Institute for Space Research), P.O. Box 515, 12245-970, Sao Jose dos Campos (Brazil); Pereira, Enio Bueno, E-mail: enio.pereira@inpe.br [Centro de Ciencia do Sistema Terrestre-Instituto Nacisonal de Pesquisas Espaciais (Earth System Center-National Institute for Space Research), P.O. Box 515, 12245-970, Sao Jose dos Campos (Brazil)

2011-07-15

Brazil's primary energy matrix is based on more than 47% of renewables, and more than 85% of its electricity is generated by hydro power sources. Despite this large fraction of renewable energy resources, less than 0.3% of the national energy supply comes from solar or wind sources. This paper presents a diagnostic review on the penetration of the solar and wind energy technologies in Brazil. It also includes a survey of the latest government policies and incentives for renewable energies deployment by entrepreneurs, industry and commercial and residential consumers. In addition, the paper analyses how to best meet the requirements for policy support and information technology to boost the deployment of solar technology and wind energy in Brazil. This study was mostly based on results of a widely distributed survey covering key issues, and also by personal interviews carried out with key stakeholders in order to better understand the issues highlighted in the survey responses. The study pointed out some of the main obstacles to effectively promote and improve government policies and actions for investment in solar and wind energy market in Brazil. - Highlights: > Current status on the solar and wind energy deployment in Brazil is presented. > Policy framework required to support solar and wind energy was discussed. > Study was based on responses for consultations with key stakeholders. > Worthiness Index was established to rank the stakeholders outlooks. > Energy price, human resources and tax reductions were indicated as priority.

Enhancing information for solar and wind energy technology deployment in Brazil

International Nuclear Information System (INIS)

Ramos Martins, Fernando; Pereira, Enio Bueno

2011-01-01

Brazil's primary energy matrix is based on more than 47% of renewables, and more than 85% of its electricity is generated by hydro power sources. Despite this large fraction of renewable energy resources, less than 0.3% of the national energy supply comes from solar or wind sources. This paper presents a diagnostic review on the penetration of the solar and wind energy technologies in Brazil. It also includes a survey of the latest government policies and incentives for renewable energies deployment by entrepreneurs, industry and commercial and residential consumers. In addition, the paper analyses how to best meet the requirements for policy support and information technology to boost the deployment of solar technology and wind energy in Brazil. This study was mostly based on results of a widely distributed survey covering key issues, and also by personal interviews carried out with key stakeholders in order to better understand the issues highlighted in the survey responses. The study pointed out some of the main obstacles to effectively promote and improve government policies and actions for investment in solar and wind energy market in Brazil. - Highlights: → Current status on the solar and wind energy deployment in Brazil is presented. → Policy framework required to support solar and wind energy was discussed. → Study was based on responses for consultations with key stakeholders. → Worthiness Index was established to rank the stakeholders outlooks. → Energy price, human resources and tax reductions were indicated as priority.

Presence of calreticulin mutations in JAK2-negative polycythemia vera.

Science.gov (United States)

Broséus, Julien; Park, Ji-Hye; Carillo, Serge; Hermouet, Sylvie; Girodon, François

2014-12-18

Calreticulin (CALR) mutations have been reported in Janus kinase 2 (JAK2)- and myeloproliferative leukemia (MPL)-negative essential thrombocythemia and primary myelofibrosis. In contrast, no CALR mutations have ever been reported in the context of polycythemia vera (PV). Here, we describe 2 JAK2(V617F)-JAK2(exon12)-negative PV patients who presented with a CALR mutation in peripheral granulocytes at the time of diagnosis. In both cases, the CALR mutation was a 52-bp deletion. Single burst-forming units-erythroid (BFU-E) from 1 patient were grown in vitro and genotyped: the same CALR del 52-bp mutation was noted in 31 of the 37 colonies examined; 30 of 31 BFU-E were heterozygous for CALR del 52 bp, and 1 of 31 BFU-E was homozygous for CALR del 52 bp. In summary, although unknown mutations leading to PV cannot be ruled out, our results suggest that CALR mutations can be associated with JAK2-negative PV. © 2014 by The American Society of Hematology.

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark

DEFF Research Database (Denmark)

Bayat, A.; Yasmeen, S.; Lund, A.

2016-01-01

We describe the genotypes of the complete cohort, from 1967 to 2014, of phenylketonuria (PKU) patients in Denmark, in total 376 patients. A total of 752 independent alleles were investigated. Mutations were identified on 744 PKU alleles (98.9%). In total, 82 different mutations were present...

Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss ...

Indian Academy of Sciences (India)

tion c.35delG is the most frequent mutation accounting for up to 86% of the GJB2 .... In the present study, 146 unrelated sensorineural NSHL patients were screened for ... vated incidence value for the c.35delG mutation in Europe concerns the ...

PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood.

Science.gov (United States)

Lee, Peilin; Su, Yi-Ning; Yu, Chong-Jen; Yang, Pan-Chyr; Wu, Huey-Dong

2009-02-01

Congenital central hypoventilation syndrome (CCHS) is characterized by compromised chemoreflexes resulting in sleep hypoventilation. We report a Chinese family with paired-like homeobox 2B (PHOX2B) mutation-confirmed CCHS, with a clinical spectrum from newborn to adulthood, to increase awareness of its various manifestations. After identifying central hypoventilation in an adult man (index case), clinical evaluation was performed on the complete family, which consisted of the parents, five siblings, and five offspring. Pulmonary function tests, overnight polysomnography, arterial blood gas measurements, hypercapnia ventilatory response, and PHOX2B gene mutation screening were performed on living family members. Brain MRI, 24-h Holter monitoring, and echocardiography were performed on members with clinically diagnosed central hypoventilation. The index patient and four offspring manifested clinical features of central hypoventilation. The index patients had hypoxia and hypercapnia while awake, polycythemia, and hematocrit levels of 70%. The first and fourth children had frequent cyanotic spells, and both died of respiratory failure. The second and third children remained asymptomatic until adulthood, when they experienced impaired hypercapnic ventilatory response. The third child had nocturnal hypoventilation with nadir pulse oximetric saturation of 59%. Adult-onset CCHS with PHOX2B gene mutation of the + 5 alanine expansions were confirmed in the index patient and the second and third children. The index patient and the third child received ventilator support system bilevel positive airway pressure treatment, which improved the hypoxemia, hypercapnia, and polycythemia without altering their chemosensitivity. Transmission of late-onset CCHS is autosomal-dominant. Genetic screening of family members of CCHS probands allows for early diagnosis and treatment.

Induced mutations - a tool in plant research

International Nuclear Information System (INIS)

1981-01-01

These proceedings include 34 papers and 18 brief descriptions of poster presentations in the following areas as they are affected by induced mutations: advancement of genetics, plant evolution, plant physiology, plant parasites, plant symbioses, in vitro culture, gene ecology and plant breeding. Only a relatively small number of papers are of direct nuclear interest essentially in view of the mutations being induced by ionizing radiations. The papers of nuclear interest have been entered as separate and individual items of input

On the creative economy chain in Brazil: potential and challenges

Directory of Open Access Journals (Sweden)

ANITA KON

2016-03-01

Full Text Available ABSTRACT The article presents an analysis of the Creative Economy in Brazil, showing its development potential for the generation of income and employment, in order to the country's development resumption. They are initially presented concepts and features of the Creative Economy for, in sequence, to analyze the economic development profile and potential of this industry in Brazil. The empirical part introduces some methodological aspects, in continuing with the analysis of the creative chain contribution to the generation of Value Added and employment in the country, and a vision of their foreign trade.potential. Finally, the challenges to the implementation of public policies are investigated.

SMART GRID: Evaluation and Trend in Brazil

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Ricardo Moreira da Silva

2014-09-01

Full Text Available The Smart Grid is considered the most promising conglomerate of technology to be applied for the improvement and optimization of all power production in electrical engineer. Smart Grid's concept is being more and more recognized for its importance for representing a way to meliorate the energetic efficiency of the electric system, reducing consumption, allowing intensive use of energy generation renewable sources. Therefore, the goal of this article is to explore and present Smart Grid's concepts and its global evolution, so as perform an assessment on Smart Grid's tendencies in Brazil. In order to do this, we shown the concepts of Smart Grid, its benefits and impacts in the electric system's value chain, the barriers to its diffusion in Brazil and the paths of investments' incentives for deployment of the new technology. Accordingly, we reach the conclusion that the researches point to a long and challenging trajectory for the development and implantation of Smart Grid's technology in Brazil, which is still in a embryonic phase of pilot projects for the knowledge and technology development implantation.

NPM1 mutations in therapy-related acute myeloid leukemia with uncharacteristic features

DEFF Research Database (Denmark)

Andersen, Morten Tolstrup; Andersen, Mette Klarskov; Christiansen, D.H.

2008-01-01

Frameshift mutations of the nucleophosmin gene (NPM1) were recently reported as a frequently occurring abnormality in patients with de novo acute myeloid leukemia (AML). To evaluate the frequency of NPM1 mutations in patients with therapy-related myelodysplasia (t-MDS) and therapy-related AML (t......-/-7, the most frequent abnormalities of t-MDS/t-AML, were not observed (P=0.002). This raises the question whether some of the cases presenting NPM1 mutations were in fact cases of de novo leukemia. The close association to class I mutations and the inverse association to class II mutations suggest...

Plant mutation reports, Vol. 2, No. 1, December 2008

International Nuclear Information System (INIS)

2008-12-01

The International Symposium on Induced Mutations in Plants (ISIMP) was successfully held in Vienna, Austria 12-15 August 2008. It attracted more almost 500 participants, demonstrating a broad interest in induced mutations in the plant breeding and research community. The titles of oral presentations are included in this issue. Some papers submitted to the Symposium by authors who were unable to attend the Symposium are included in this issue. In this issue, you will learn that mutations can be induced in uncommon plants using various means and utilized for various purposes. For example, Kacholam, guar and cocoyam are not widely cultivated crop species and there is very limited genetic variability, Kanakamanay, Arora et al. and Ndzana et al. reported the induction of mutations as a valuable source of genetic variability in these crops. Rice is a staple food crop and has a history of successful application of mutation techniques for its improvement; however, the virus resistant mutant varieties released in the United Republic of Tanzania, the cold tolerant mutant lines developed in Madagascar and the use of proton radiation for mutation induction in this field. The use of mutation techniques for improving tomato productivity in low water supply area, for increasing crossability and progeny fertility of mungbean crossed with its wild relative species and for investigating leaf structure in mungbean are convincing examples of the usefulness of mutation techniques

Juristocracy in Brazil Ran Hirschl's Perspective About Judicial Empowerment

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Claudia Maria Barbosa

2015-12-01

Full Text Available Within the classical view of separation of powers, the judiciary originally occupied the weaker position. What is observed today, however, is a displacement of power from representative institutions to the judiciary, erecting a new kind of political regime that the Canadian political scientist Ran Hirschl called juristocracy. This paper intends to discuss this movement basing on the idea of hegemonic preservation, presented by Hirschl in his work Towards Juristocracy whose central hypothesis is that the political, economic and social elites voluntarily transfer power to the judiciary, when threatened of losing their hegemony in the political sphere. In Brazil, the 1988 Constitution turned the Supreme Court into one of the world's most powerful courts, which works at the same time as constitutional court, court of appeals and criminal court, responsible for deciding the most fundamental issues for brazilian society. We present at first, the examples used by Hirschl to illustrate his thesis about the judicial empowerment through constitutionalization, analyzing the political and economic changes in recent history of Israel, Canada, New Zealand and South Africa, followed by an analysis of the phenomenon in Brazil. We conclude that it is not possible to determine, in principle, the occurrence of hegemonic preservation in Brazil, but that Hirschl's analysis that offers an answer that challenges the traditional view on the judicialization of politics, contributes to the discussion and analysis of the phenomenon in Brazil.

Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.

Science.gov (United States)

Walter, Andrew W; Ennis, Sara; Best, Hunter; Vaughn, Cecily P; Swensen, Jeffrey J; Openshaw, Amanda; Gripp, Karen W

2013-11-01

A 13-year-old child presented with three simultaneous malignancies: glioblastoma multiforme, Burkitt lymphoma, and colonic adenocarcinoma. She was treated for her diseases without success and died 8 months after presentation. Genetic analysis revealed a homozygous mutation in the PMS2 gene, consistent with constitutional mismatch repair deficiency. Her siblings and parents were screened: three of four siblings and both parents were heterozygous for this mutation; the fourth sibling did not have the mutation. Copyright © 2013 Wiley Periodicals, Inc.

Novel folliculin (FLCN) mutation and familial spontaneous pneumothorax.

Science.gov (United States)

Zhu, J-F; Shen, X-Q; Zhu, F; Tian, L

2017-01-01

Familial spontaneous pneumothorax is one of the characteristics of Birt-Hogg-Dubé syndrome (BHDS), which is an autosomal dominant disease caused by the mutation of folliculin (FLCN). To investigate the mutation of FLCN gene in a familial spontaneous pneumothorax. Prospective case study. Clinical and genetic data of a Chinese family with four patients who presented spontaneous pneumothorax in the absence of skin lesions or renal tumors were collected. CT scan of patient's lung was applied for observation of pneumothorax. DNA sequencing of the coding exons (4-14 exons) of FLCN was performed for all 11 members of the family and 100 unrelated healthy controls. CT scan of patient's lung showed spontaneous pneumothorax. A mutation (c. 510C > G) that leads to a premature stop codon (p. Y170X) was found in the proband using DNA sequencing of coding exons (4-14 exons) of FLCN. This mutation was also observed in the other affected members of the family. A nonsense mutation of FLCN was found in a spontaneous pneumothorax family. Our results expand the mutational spectrum of FLCN in patients with BHDS. © The Author 2016. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Image of Brazil: similarities and differences in the assessment in ten countries

Directory of Open Access Journals (Sweden)

Eber Celoto Souza

2014-08-01

Full Text Available This article seeks to understand how foreigners make their image about Brazil and investigates similarities and differences in this assessment. The paper presents the results of a survey of 4373 respondents of ten countries. The authors performed a factor analysis to identify the dimensions and assessment of each country followed by a discriminant analysis. The results indicate that Brazil has a slightly positive image in the sample studied. The affection dimension has the best evaluation, while the communication dimension is the worst, and eight statements have the highest discrimination on the image of Brazil.

Energy in Brazil

International Nuclear Information System (INIS)

Morato de Andrade, C.

2003-05-01

To prepare the Gross Domestic Product increase of 4 % in the next years, it is necessary to increase the capacity in Brazil. The government decided actions in favor of the installed capacity growth speeding up and planed investments. This document takes stock on the energy situation in Brazil, the human, political and geographical constraints and the decided measures in favor the energy development. (A.L.B.)

Cost evolution of electric energy in Brazil

International Nuclear Information System (INIS)

Oliveira, A. de; Contreras, E.C.A.

1981-01-01

An analysis of electric energy costs in Brazil is presented. Hydro, coal and nuclear costs are analysed and the final conclusion seems to indicate that nuclear power plants are not economically interesting untill the Brazilian electric capacity attains 110 GW average power. (Author) [pt

Serologic detection of coccidioidomycosis antibodies in northeast Brazil.

Science.gov (United States)

Cordeiro, Rossana de Aguiar; Fechine, Maria Auxiliadora Bezerra; Brilhante, Raimunda Sâmia Nogueira; Rocha, Marcos Fábio Gadelha; da Costa, Ana Karoline Freire; Nagao, Maria Aparecida Tiemi Dias; de Camargo, Zoilo Pires; Sidrim, José Júlio Costa

2009-04-01

Coccidioidomycosis is a systemic infection caused by Coccidioides spp. The disease is endemic in Brazil but its incidence is underreported as it is not a notifiable disease. This article presents the results of a serologic survey carried out with 229 volunteers in northeast Brazil by the immunodiffusion (ID) test with commercial Coccidioides spp. antigens. The commercial ID test detected 15 individuals without clinical diagnosis of the disease and two individuals in treatment for coccidioidomycosis. Regarding the epidemiological data, most of the positive individuals were male, between 18 and 65 years of age and were engaged in armadillo hunting. Three women who had never participated in armadillo hunts also displayed positive results for coccidioidal antibodies. Besides armadillo hunts, exposure to environmental dust in endemic areas may account for the serologic response detected in the study. The data from this study suggest the importance of performing epidemiological surveys for coccidioidomycosis in order to understand the prevalence of this disease in Brazil.

Potential of aqueous ozone to control aflatoxigenic fungi in Brazil nuts

OpenAIRE

Silva, Otniel Freitas; Morales-Valle, H.; Venâncio, Armando

2011-01-01

The Brazil nut (Bertholethia excelsa) is an important non timber forest product (NTFP) from the Amazonian forest. Despite their nutritious value, Brazil nuts are susceptible to contamination with Aspergillus section Flavi fungi and consequently with aflatoxins. Since aqueous ozone reduces microorganisms population and has oxidant effect on aflatoxins, the effect of ozone on. Both natural and artificially contaminated Brasil nuts were studied in the present work. The former were inoculated wit...

Efficient fractal-based mutation in evolutionary algorithms from iterated function systems

Science.gov (United States)

Salcedo-Sanz, S.; Aybar-Ruíz, A.; Camacho-Gómez, C.; Pereira, E.

2018-03-01

In this paper we present a new mutation procedure for Evolutionary Programming (EP) approaches, based on Iterated Function Systems (IFSs). The new mutation procedure proposed consists of considering a set of IFS which are able to generate fractal structures in a two-dimensional phase space, and use them to modify a current individual of the EP algorithm, instead of using random numbers from different probability density functions. We test this new proposal in a set of benchmark functions for continuous optimization problems. In this case, we compare the proposed mutation against classical Evolutionary Programming approaches, with mutations based on Gaussian, Cauchy and chaotic maps. We also include a discussion on the IFS-based mutation in a real application of Tuned Mass Dumper (TMD) location and optimization for vibration cancellation in buildings. In both practical cases, the proposed EP with the IFS-based mutation obtained extremely competitive results compared to alternative classical mutation operators.

Hemochromatosis (HFE gene mutations in Brazilian chronic hemodialysis patients

Directory of Open Access Journals (Sweden)

F.V. Perícole

2005-09-01

Full Text Available Patients with chronic renal insufficiency (CRI have reduced hemoglobin levels, mostly as a result of decreased kidney production of erythropoietin, but the relation between renal insufficiency and the magnitude of hemoglobin reduction has not been well defined. Hereditary hemochromatosis is an inherited disorder of iron metabolism. The importance of the association of hemochromatosis with treatment for anemia among patients with CRI has not been well described. We analyzed the frequency of the C282Y and H63D mutations in the HFE gene in 201 Brazilian individuals with CRI undergoing hemodialysis. The analysis of the effects of HFE mutations on iron metabolism and anemia with biochemical parameters was possible in 118 patients of this study (hemoglobin, hematocrit, ferritin levels, transferrin saturation, and serum iron. A C282Y heterozygous mutation was found in 7/201 (3.4% and H63D homozygous and heterozygous mutation were found in 2/201 (1.0% and 46/201 (22.9%, respectively. The allelic frequencies of the HFE mutations (0.017 for C282Y mutation and 0.124 for H63D mutation did not differ between patients with CRI and healthy controls. Regarding the biochemical parameters, no differences were observed between HFE heterozygous and mutation-negative patients, although ferritin levels were not higher among patients with the H63D mutation (P = 0.08. From what we observed in our study, C282Y/H63D HFE gene mutations are not related to degrees of anemia or iron stores in CRI patients receiving intravenous iron supplementation (P > 0.10. Nevertheless, the present data suggest that the H63D mutation may have an important function as a modulating factor of iron overload in these patients.

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

NARCIS (Netherlands)

van der Kooi, A. J.; Bonne, G.; Eymard, B.; Duboc, D.; Talim, B.; van der Valk, M.; Reiss, P.; Richard, P.; Demay, L.; Merlini, L.; Schwartz, K.; Busch, H. F. M.; de Visser, M.

2002-01-01

Mutations in the lamin A/C gene are found in Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy with cardiac conduction disturbances, dilated cardiomyopathy with conduction system disease, and familial partial lipodystrophy. Cases with lamin A/C mutations presenting with lipodystrophy

Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.

Science.gov (United States)

Ortiz, Sofía C; Aguirre, Santiago J; Flores, Sofía; Maldonado, Claudio; Mejía, Juan; Salinas, Lilian

2017-11-01

High heterogeneity in the CFTR gene mutations disturbs the molecular diagnosis of cystic fibrosis (CF). In order to improve the diagnosis of CF in our country, the present study aims to define a panel of common CFTR gene mutations by sequencing 27 exons of the gene in Ecuadorian Cystic Fibrosis patients. Forty-eight Ecuadorian individuals with suspected/confirmed CF diagnosis were included. Twenty-seven exons of CFTR gene were sequenced to find sequence variations. Prevalence of pathogenic variations were determined and compared with other countries' data. We found 70 sequence variations. Eight of these are CF-causing mutations: p.F508del, p.G85E, p.G330E, p.A455E, p.G970S, W1098X, R1162X, and N1303K. Also this study is the second report of p.H609R in Ecuadorian population. Mutation prevalence differences between Ecuadorian population and other Latin America countries were found. The panel of mutations suggested as an initial screening for the Ecuadorian population with cystic fibrosis should contain the mutations: p.F508del, p.G85E, p.G330E, p.A455E, p.G970S, W1098X, R1162X, and N1303K. © 2017 NETLAB Laboratorios Especializados. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

Agriculture Oral Presentations

International Nuclear Information System (INIS)

1997-01-01

This publication contains 23 papers related to the use of nuclear techniques in plant breeding in Turkey, effect of gamma irradiations on growing various plants, mutations and soil chemistry, etc., presented at 4. International Congress of Nuclear Agriculture and Animal Science in Bursa, Turkey, 25-27 Sep 1996. A separate abstract was prepared for each paper

PMS2 monoallelic mutation carriers: the known unknown.

Science.gov (United States)

Goodenberger, McKinsey L; Thomas, Brittany C; Riegert-Johnson, Douglas; Boland, C Richard; Plon, Sharon E; Clendenning, Mark; Win, Aung Ko; Senter, Leigha; Lipkin, Steven M; Stadler, Zsofia K; Macrae, Finlay A; Lynch, Henry T; Weitzel, Jeffrey N; de la Chapelle, Albert; Syngal, Sapna; Lynch, Patrick; Parry, Susan; Jenkins, Mark A; Gallinger, Steven; Holter, Spring; Aronson, Melyssa; Newcomb, Polly A; Burnett, Terrilea; Le Marchand, Loïc; Pichurin, Pavel; Hampel, Heather; Terdiman, Jonathan P; Lu, Karen H; Thibodeau, Stephen; Lindor, Noralane M

2016-01-01

Germ-line mutations in MLH1, MSH2, MSH6, and PMS2 have been shown to cause Lynch syndrome. The penetrance of the cancer and tumor spectrum has been repeatedly studied, and multiple professional societies have proposed clinical management guidelines for affected individuals. Several studies have demonstrated a reduced penetrance for monoallelic carriers of PMS2 mutations compared with the other mismatch repair (MMR) genes, but clinical management guidelines have largely proposed the same screening recommendations for all MMR gene carriers. The authors considered whether enough evidence existed to propose new screening guidelines specific to PMS2 mutation carriers with regard to age at onset and frequency of colonic screening. Published reports of PMS2 germ-line mutations were combined with unpublished cases from the authors' research registries and clinical practices, and a discussion of potential modification of cancer screening guidelines was pursued. A total of 234 monoallelic PMS2 mutation carriers from 170 families were included. Approximately 8% of those with colorectal cancer (CRC) were diagnosed before age 30, and each of these tumors presented on the left side of the colon. As it is currently unknown what causes the early onset of CRC in some families with monoallelic PMS2 germline mutations, the authors recommend against reducing cancer surveillance guidelines in families found having monoallelic PMS2 mutations in spite of the reduced penetrance.Genet Med 18 1, 13-19.

Main meal quality in Brazil and United Kingdom: Similarities and differences.

Science.gov (United States)

Gorgulho, Bartira Mendes; Pot, Gerda Karolien; Sarti, Flavia Mori; Marchioni, Dirce Maria

2017-04-01

Consumption of fast food and ready-to-eat meals has been positively associated with obesity. In the UK, ready-made meals are more often consumed than in Brazil, a country in which nutrition transition is relatively low. This study aimed to compare the nutritional quality of the main meal consumed by adults in Brazil and UK. Food record data was obtained from representative samples from UK and Brazil databases. The Main Meal Quality Index (MMQI) was applied to estimate the quality of the main meal consumed in Brazil and UK. Differences in food groups consumed in the main meal in Brazil and UK were observed using classification decision tree. Meals with higher average energy content were lunch for Brazil, and dinner for the UK. On average, the Brazilian main meal had better nutritional quality (4.42 times higher), independently of sex, age, family income, nutritional status and energy consumed, with higher scores of fiber, carbohydrate, total fat, saturated fat and energy density. However, UK's main meal included more fruits and vegetables. Food preparations combined with rice and beans were classified as Brazilian main meal, while combinations with fast food items, as fried potatoes, sandwiches and sugary beverages, were classified as UK main meals. In Brazil, the main meal quality was lower among women and obese individuals, presenting significant positive association with age, and negative association with energy intake and family income; while in UK, only age was positively associated with MMQI. Although main meals in Brazil had higher nutritional quality compared to the UK, main meals consumed in both countries need nutritional improvement. Copyright © 2017 Elsevier Ltd. All rights reserved.

Mutation breeding in pepper

International Nuclear Information System (INIS)

Daskalov, S.

1986-01-01

Pepper (Capsicum sp.) is an important vegetable and spice crop widely grown in tropical as well as in temperate regions. Until recently the improvement programmes were based mainly on using natural sources of germ plasma, crossbreeding and exploiting the heterosis of F 1 hybrids. However, interest in using induced mutations is growing. A great number of agronomically useful mutants as well as mutants valuable for genetic, cytological and physiological studies have been induced and described. In this review information is presented about suitable mutagen treatment procedures with radiation as well as chemicals, M 1 effects, handling the treated material in M 1 , M 2 and subsequent generations, and mutant screening procedures. This is supplemented by a description of reported useful mutants and released cultivars. Finally, general advice is given on when and how to incorporate mutation induction in Capsicum improvement programmes. (author)

Doenças da mandioquinha-salsa e sua situação atual no Brasil Present situation of arracacha (Arracacia xanthorrhiza diseases in Brazil

Directory of Open Access Journals (Sweden)

Gilmar P. Henz

2002-06-01

been recorded are described and their current situation in Brazil is discussed. Since its introduction in 1900-1910, arracacha has been considered a non-demanding crop, presenting some minor disease problems, especially when compared to other vegetable crops. Many of the recorded arracacha diseases in Brazil and other Latin American countries are poorly described, for there is hardly any information about pathogenicity tests, pathogen identity, crop losses and environmental conditions affecting diseases. Worldwide, 27 genera of fungi, three of bacteria, nine of nematodes and five species of viruses have been recorded. Of these, thirteen fungi and all bacteria and nematodes were recorded in Brazil. So far, no virus has been recorded, although virus-like symptoms have been observed. The most important diseases are the root knot, caused by Meloidogyne spp., and the postharvest soft rot caused by Erwinia spp. Commonly occurring diseases are leaf spots caused by Septoria spp., Cercospora spp. and Xanthomonas campestris pv. arracaciae, as well as plant rots caused by Sclerotium rolfsii and Sclerotinia sclerotiorum. Viruses could become of great importance since this crop is vegetatively propagated, and part of the plantlets are now being produced in nurseries by a new technique (pre-rooting and then disseminated to different areas throughout Brazil. As there is no pesticide officially registered for this crop in Brazil, preventive measures of control must be used, such as crop rotation, suitable fertilization and irrigation, and removal and destruction of diseased plants. Arracacha seems to be suitable for organic cropping systems, since few diseases are considered limitant.

Scenarios for solar thermal energy applications in Brazil

International Nuclear Information System (INIS)

Martins, F.R.; Abreu, S.L.; Pereira, E.B.

2012-01-01

The Solar and Wind Energy Resource Assessment (SWERA) database is used to prepare and discuss scenarios for solar thermal applications in Brazil. The paper discusses low temperature applications (small and large scale water heating) and solar power plants for electricity production (concentrated solar power plants and solar chimney plants) in Brazil. The results demonstrate the feasibility of large-scale application of solar energy for water heating and electricity generation in Brazil. Payback periods for water heating systems are typically below 4 years if they were used to replace residential electric showerheads in low-income families. Large-scale water heating systems also present high feasibility and many commercial companies are adopting this technology to reduce operational costs. The best sites to set up CSP plants are in the Brazilian semi-arid region where the annual energy achieves 2.2 MW h/m 2 and averages of daily solar irradiation are larger than 5.0 kW h/m 2 /day. The western area of Brazilian Northeastern region meets all technical requirements to exploit solar thermal energy for electricity generation based on solar chimney technology. Highlights: ► Scenarios for solar thermal applications are presented. ► Payback is typically below 4 years for small scale water heating systems. ► Large-scale water heating systems also present high feasibility. ► The Brazilian semi-arid region is the best sites for CSP and chimney tower plants.

Novel mutations in the USH1C gene in Usher syndrome patients.

Science.gov (United States)

Aparisi, María José; García-García, Gema; Jaijo, Teresa; Rodrigo, Regina; Graziano, Claudio; Seri, Marco; Simsek, Tulay; Simsek, Enver; Bernal, Sara; Baiget, Montserrat; Pérez-Garrigues, Herminio; Aller, Elena; Millán, José María

2010-12-31

Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by severe-profound sensorineural hearing loss, retinitis pigmentosa, and vestibular areflexia. To date, five USH1 genes have been identified. One of these genes is Usher syndrome 1C (USH1C), which encodes a protein, harmonin, containing PDZ domains. The aim of the present work was the mutation screening of the USH1C gene in a cohort of 33 Usher syndrome patients, to identify the genetic cause of the disease and to determine the relative involvement of this gene in USH1 pathogenesis in the Spanish population. Thirty-three patients were screened for mutations in the USH1C gene by direct sequencing. Some had already been screened for mutations in the other known USH1 genes (myosin VIIA [MYO7A], cadherin-related 23 [CDH23], protocadherin-related 15 [PCDH15], and Usher syndrome 1G [USH1G]), but no mutation was found. Two novel mutations were found in the USH1C gene: a non-sense mutation (p.C224X) and a frame-shift mutation (p.D124TfsX7). These mutations were found in a homozygous state in two unrelated USH1 patients. In the present study, we detected two novel pathogenic mutations in the USH1C gene. Our results suggest that mutations in USH1C are responsible for 1.5% of USH1 disease in patients of Spanish origin (considering the total cohort of 65 Spanish USH1 patients since 2005), indicating that USH1C is a rare form of USH in this population.

Repair-resistant mutation in Neurospora

International Nuclear Information System (INIS)

Stadler, D.; Macleod, H.; Loo, M.

1987-01-01

Chronic UV treatment produces severalfold fewer mutations in Neurospora conidia than does the same total dose of acute UV. Experiments were designed to determine the conditions required for chronic UV mutagenesis. Measurement of the coincidence frequency for two independent mutations revealed the existence of a subset of cells which are mutable by chronic UV. Analysis of forward mutation at the mtr locus showed that the genetic alterations produced by chronic UV were virtually all point mutants, even though the assay system could detect alterations or deletions extending into neighboring genes. A significant fraction of the mutants produced by acute UV were multigenic deletions. The size of the dose-rate effect (acute UV mutation frequency divided by chronic UV mutation frequency) was compared for several different mutation assay systems. Forward mutations (recessive lethals and mtr) gave values ranging from four to nine. For events which were restricted to specific molecular sites (specific reversions and nonsense suppressor mutations), there was a wider range of dose-rate ratios. This suggests that chronic UV mutation may be restricted to certain molecular sequences or configurations

Mutation Analysis in Classical Phenylketonuria Patients Followed by Detecting Haplotypes Linked to Some PAH Mutations.

Science.gov (United States)

Dehghanian, Fatemeh; Silawi, Mohammad; Tabei, Seyed M B

2017-02-01

Deficiency of phenylalanine hydroxylase (PAH) enzyme and elevation of phenylalanine in body fluids cause phenylketonuria (PKU). The gold standard for confirming PKU and PAH deficiency is detecting causal mutations by direct sequencing of the coding exons and splicing involved sequences of the PAH gene. Furthermore, haplotype analysis could be considered as an auxiliary approach for detecting PKU causative mutations before direct sequencing of the PAH gene by making comparisons between prior detected mutation linked-haplotypes and new PKU case haplotypes with undetermined mutations. In this study, 13 unrelated classical PKU patients took part in the study detecting causative mutations. Mutations were identified by polymerase chain reaction (PCR) and direct sequencing in all patients. After that, haplotype analysis was performed by studying VNTR and PAHSTR markers (linked genetic markers of the PAH gene) through application of PCR and capillary electrophoresis (CE). Mutation analysis was performed successfully and the detected mutations were as follows: c.782G>A, c.754C>T, c.842C>G, c.113-115delTCT, c.688G>A, and c.696A>G. Additionally, PAHSTR/VNTR haplotypes were detected to discover haplotypes linked to each mutation. Mutation detection is the best approach for confirming PAH enzyme deficiency in PKU patients. Due to the relatively large size of the PAH gene and high cost of the direct sequencing in developing countries, haplotype analysis could be used before DNA sequencing and mutation detection for a faster and cheaper way via identifying probable mutated exons.

TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient

International Nuclear Information System (INIS)

Giacomazzi, Juliana; Hainaut, Pierre; Ashton-Prolla, Patricia; Selistre, Simone; Duarte, Juliana; Ribeiro, Jorge Pinto; Vieira, Paulo JC; Souza Macedo, Gabriel de; Rossi, Cristina; Czepielewski, Mauro; Netto, Cristina Brinkmann Oliveira

2013-01-01

Adrenocortical carcinomas (ACCs) are among the most common childhood cancers occurring in infants affected with the Li-Fraumeni and Li- Fraumeni-like (LFS/LFL) syndromes, which are caused by dominant germline mutations in the TP53 gene. In Brazil, a particular mutation, occurring in the tetramerisation domain of the gene, p.R337H, is exceedingly common due to a founder effect and is strongly associated with ACC. In this report, we describe the phenotype and long-term clinical follow-up of a female child diagnosed with ACC and homozygous for the TP53 p.R337H founder mutation. At age 11 months, the patient was diagnosed with a virilising anaplastic adrenal cortical tumour, which was completely excised without disturbing the adrenal capsule. Family history was consistent with an LFL tumour pattern, and genotyping identified the TP53 p.R337H mutation in both alleles in genomic DNA from lymphocytes and fibroblasts. Haplotype analysis confirmed the occurrence of the mutation in the same founder haplotype previously described in other Brazilian patients. No other germline or somatic TP53 mutations or rearrangements were identified. At age 9 years, the child was asymptomatic and had no evidence of endocrine derangements. Full body and brain magnetic resonance imaging (MRI) failed to detect any suspicious proliferative lesions, and cardiopulmonary exercise testing results were within the normal reference for the child’s age, ruling out a major exercise capacity deficiency. This is the first clinical and aerobic functional capacity documentation of a patient who carries two mutant TP53 alleles and no wild-type allele. Our results support the hypothesis that TP53 p.R337H, the most common TP53 mutation ever described in any population, is a conditional mutant. Furthermore, our observations over a long period of clinical follow-up suggest that TP53 p.R337H homozygotes do not have a more severe disease phenotype than do heterozygote carriers of the same mutation. Patients with

[Forum: health and indigenous peoples in Brazil. Introduction].

Science.gov (United States)

Welch, James R

2014-04-01

This Forum on Health and Indigenous Peoples in Brazil explores contemporary challenges to indigenous health and health politics in Brazil. The short collection of articles that follow are based on presentations, originally given at the Indigenous Health Working Group panel at the 10th Brazilian Public Health Conference in Rio Grande do Sul State, by professors Carlos E. A. Coimbra Jr. (Escola Nacional de Saúde Pública, Fundação Oswaldo Cruz), Marina Denise Cardoso (Universidade Federal de São Carlos) and Eliana E. Diehl (Universidade Federal de Santa Catarina) with Marcos A. Pellegrini (Universidade Federal de Roraima). In this short Introduction, I introduce these contributions, taking as a point of reference a local example of healthcare inequity derived from a presentation at the same panel by Paulo F. Supretaprã, indigenous community leader from Etênhiritipá village, Mato Grosso State.

Indian areas threatened by hydroelectric projects in Brazil

Energy Technology Data Exchange (ETDEWEB)

Aspelin, P L; Santos, S.C. dos

1981-10-01

In Brazil, as elsewhere, high priority is being given to developing domestic energy sources due to the spectacular increase in the cost of imported petroleum in recent years. This paper discusses the present situation of the thirty-two to thirty-four various Indian areas presently known to be threatened by seven major hydro-electric projects and one flood-control project, either planned or underway, in or directly involving Brazil. A total of at least 100,000 hectares of Indian land (or nearly one hectare for each remaining Brazilian Indian) will be flooded or otherwise expropriated by these projects. Past efforts by the Brazilian National Indian Foundation (FUNAI) to protect the Indians from the pressure of ''national development'' have not been sufficient. Research, planning, publicity, and political pressure are necessary to ensure that their efforts regarding these hydroelectric projects are more successful.

Mature Microsatellites: Mechanisms Underlying Dinucleotide Microsatellite Mutational Biases in Human Cells

OpenAIRE

Baptiste, Beverly A.; Ananda, Guruprasad; Strubczewski, Noelle; Lutzkanin, Andrew; Khoo, Su Jen; Srikanth, Abhinaya; Kim, Nari; Makova, Kateryna D.; Krasilnikova, Maria M.; Eckert, Kristin A.

2013-01-01

Dinucleotide microsatellites are dynamic DNA sequences that affect genome stability. Here, we focused on mature microsatellites, defined as pure repeats of lengths above the threshold and unlikely to mutate below it in a single mutational event. We investigated the prevalence and mutational behavior of these sequences by using human genome sequence data, human cells in culture, and purified DNA polymerases. Mature dinucleotides (?10 units) are present within exonic sequences of >350 genes, re...

Kin-Driver: a database of driver mutations in protein kinases.

Science.gov (United States)

Simonetti, Franco L; Tornador, Cristian; Nabau-Moretó, Nuria; Molina-Vila, Miguel A; Marino-Buslje, Cristina

2014-01-01

Somatic mutations in protein kinases (PKs) are frequent driver events in many human tumors, while germ-line mutations are associated with hereditary diseases. Here we present Kin-driver, the first database that compiles driver mutations in PKs with experimental evidence demonstrating their functional role. Kin-driver is a manual expert-curated database that pays special attention to activating mutations (AMs) and can serve as a validation set to develop new generation tools focused on the prediction of gain-of-function driver mutations. It also offers an easy and intuitive environment to facilitate the visualization and analysis of mutations in PKs. Because all mutations are mapped onto a multiple sequence alignment, analogue positions between kinases can be identified and tentative new mutations can be proposed for studying by transferring annotation. Finally, our database can also be of use to clinical and translational laboratories, helping them to identify uncommon AMs that can correlate with response to new antitumor drugs. The website was developed using PHP and JavaScript, which are supported by all major browsers; the database was built using MySQL server. Kin-driver is available at: http://kin-driver.leloir.org.ar/ © The Author(s) 2014. Published by Oxford University Press.

Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.

Science.gov (United States)

Bastug, Funda; Nalcacioglu, Hulya; Ozaltin, Fatih; Korkmaz, Emine; Yel, Sibel

2018-01-01

Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome and development of end-stage renal disease during the first decade. Although metabolic acidosis is the classically prominent finding of the disease, a few cases may present with hypokalemic metabolic alkalosis mimicking Bartter syndrome. Bartter-like presentation may lead to delay in diagnosis and initiation of specific treatment for cystinosis. We report a case of a 6-year-old girl initially presenting with the features of Bartter syndrome that was diagnosed 2 years later with nephropathic cystinosis and a novel CTNS mutation.

Wild-type and mutated IDH1/2 enzymes and therapy responses.

Science.gov (United States)

Molenaar, Remco J; Maciejewski, Jaroslaw P; Wilmink, Johanna W; van Noorden, Cornelis J F

2018-04-01

Isocitrate dehydrogenase 1 and 2 (IDH1/2) are key enzymes in cellular metabolism, epigenetic regulation, redox states, and DNA repair. IDH1/2 mutations are causal in the development and/or progression of various types of cancer due to supraphysiological production of D-2-hydroxyglutarate. In various tumor types, IDH1/2-mutated cancers predict for improved responses to treatment with irradiation or chemotherapy. The present review discusses the molecular basis of the sensitivity of IDH1/2-mutated cancers with respect to the function of mutated IDH1/2 in cellular processes and their interactions with novel IDH1/2-mutant inhibitors. Finally, lessons learned from IDH1/2 mutations for future clinical applications in IDH1/2 wild-type cancers are discussed.

Conservation patterns of HIV-1 RT connection and RNase H domains: identification of new mutations in NRTI-treated patients.

Directory of Open Access Journals (Sweden)

André F A Santos

Full Text Available BACKGROUND: Although extensive HIV drug resistance information is available for the first 400 amino acids of its reverse transcriptase, the impact of antiretroviral treatment in C-terminal domains of Pol (thumb, connection and RNase H is poorly understood. METHODS AND FINDINGS: We wanted to characterize conserved regions in RT C-terminal domains among HIV-1 group M subtypes and CRF. Additionally, we wished to identify NRTI-related mutations in HIV-1 RT C-terminal domains. We sequenced 118 RNase H domains from clinical viral isolates in Brazil, and analyzed 510 thumb and connection domain and 450 RNase H domain sequences collected from public HIV sequence databases, together with their treatment status and histories. Drug-naïve and NRTI-treated datasets were compared for intra- and inter-group conservation, and differences were determined using Fisher's exact tests. One third of RT C-terminal residues were found to be conserved among group M variants. Three mutations were found exclusively in NRTI-treated isolates. Nine mutations in the connection and 6 mutations in the RNase H were associated with NRTI treatment in subtype B. Some of them lay in or close to amino acid residues which contact nucleic acid or near the RNase H active site. Several of the residues pointed out herein have been recently associated to NRTI exposure or increase drug resistance to NRTI. CONCLUSIONS: This is the first comprehensive genotypic analysis of a large sequence dataset that describes NRTI-related mutations in HIV-1 RT C-terminal domains in vivo. The findings into the conservation of RT C-terminal domains may pave the way to more rational drug design initiatives targeting those regions.

Present international patterns of foreign direct investment: underlying causes and some policy implications for Brazil

Directory of Open Access Journals (Sweden)

François Chesnais

2013-12-01

Full Text Available An important feature of the 1980s has been the substantial fall in the flow of foreign direct investment (FDI to the developing countries and also, with the limited exception of the Asian NIE (Korea, Taiwan, Malaysia, Singapore and China, to the newly industrialized countries, in particular those in Latin America. FDI has been concentrated more than ever among the advanced industrialized countries of OECD. The same period has witnessed a number of extremely important changes, both in the nature and location of basic or key technologies, the role of technology in industrial competitiveness; the most appropriate industrial management paradigm following the difficulties of the "Fordist" one; the nature of predominant international supply or market structures; and the relationships between productive and financial capital. Today a number of governments in developing countries and in NIC, among them the new government of Brazil, are again engaged in an attempt to attract FDI and to make foreign capital one of the major pillars of industrial revival and future growth. This paper argues that this policy objective is both fairly illusory and largely mistaken. It is fairly illusory in that it seriously underestimates the nature and strength of the structural factors which have been at work since the mid-1970s and seriously modified the strategies and investment priorities of the TNC which under took the brunt of the investment in developing countries and NICs in the earlier "golden age" of the 1960s and 1970s . The objective of luring foreign capital again to Brazil in ways and on a level similar to the 1960s is also largely mistaken in that it fails to recognize that the change in technological paradigms has modified the parameters of international technology transfers (cf. Ernst and O'Connor, 1989 and made indigenous and endogenous industrial growth dependent to a much higher degree than in the previous period (19601975 on factors which foreign capital

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

Science.gov (United States)

Elia, M; Falco, M; Ferri, R; Spalletta, A; Bottitta, M; Calabrese, G; Carotenuto, M; Musumeci, S A; Lo Giudice, M; Fichera, M

2008-09-23

To search for CDKL5 gene mutations in boys presenting with severe early-onset encephalopathy and intractable epilepsy, a clinical picture very similar to that already described in girls with CDKL5 mutations. Eight boys (age range 3-16 years, mean age 8.5 years, SD 4.38) with severe or profound mental retardation and early-onset intractable seizures were selected for CDKL5 gene mutation screening by denaturing high-performance liquid chromatography analysis. We found three unrelated boys carrying three different missense mutations of the CDKL5 gene: c.872G>A (p.C291Y), c.863C>T (p.T288I), and c.533G>C (p.R178P). They presented early-onset, polymorphous, and drug-resistant seizures, mostly myoclonic and tonic or spasms. EEG showed epileptiform abnormalities which were multifocal during wakefulness, and pseudoperiodic bisynchronous during sleep. This study describes three boys carrying CDKL5 missense mutations and their detailed clinical and EEG data, and indicates that CDKL5 gene mutations may represent a cause of severe or profound mental retardation and early-onset intractable seizures, also in boys. Screening for CDKL5 mutations is strongly recommended in individuals with these clinical features.

Microbiological food safety issues in Brazil: bacterial pathogens.

Science.gov (United States)

Gomes, Bruna Carrer; Franco, Bernadette Dora Gombossy de Melo; De Martinis, Elaine Cristina Pereira

2013-03-01

The globalization of food supply impacts patterns of foodborne disease outbreaks worldwide, and consumers are having increased concern about microbiological food safety. In this sense, the assessment of epidemiological data of foodborne diseases in different countries has not only local impact, but it can also be of general interest, especially in the case of major global producers and exporters of several agricultural food products, such as Brazil. In this review, the most common agents of foodborne illnesses registered in Brazil will be presented, compiled mainly from official databases made available to the public. In addition, some representative examples of studies on foodborne bacterial pathogens commonly found in Brazilian foods are provided.

R and D activities on radiation induced mutation breeding

International Nuclear Information System (INIS)

Lapade, A.G.; Asencion, A.B.; Santos, I.S.; Grafia, A.O.; Veluz, AM.S.; Barrida, A.C.; Marbella, L.J.

1996-01-01

This paper summarizes the accomplishments, prospects and future plans of mutation breeding for crop improvement at the Philippine Nuclear Research Institute (PNRI). Mutation induction has become a proven way creating variation within a crop variety and inducing desired attributes that cannot be found in nature or have been lost during evolution. Several improved varieties with desirable traits were successfully developed through induced mutation breeding at our research institute. In rice, mutation breeding has resulted in the development of new varieties: (1) PARC 2, (2) Milagrosa mutant, (3) Bengawan mutant and (4) Azmil mutant. Mutation breeding in leguminous crops has led to the induction of an improved L 114 soybean mutant that is shorter that the original variety but yield about 40% more. Several PAEC mungbean varieties characterized with long pods that are non-shattering were also induced. In asexually propagated crops, an increase in yield and chlorophyll mutants were obtained in sweet potatos. Likewise, chlorophyll mutant which look-like 'ornamental bromeliads' and a mutant with reduced spines have been developed in pineapple Queen variety. At present, we have started a new project in mutation breeding in ornamentals. Tissue culture is being utilized in our mutation breeding program. In the near future, radiation induced mutagenesis coupled with in vitro culture techniques on protoplast culture and somatic hybridization will be integrated into our mutation breeding program to facilitate the production of new crop varieties. (author)

The Oenothera plastome mutator: effect of UV irradiation and nitroso-methyl urea on mutation frequencies

International Nuclear Information System (INIS)

Sears, B.B.; Sokalski, M.B.

1991-01-01

Oenothera plants homozygous for a recessive plastome mutator allele (pm) showed spontaneous mutation frequencies for plastome genes that are 200-fold higher than spontaneous levels. Mutations occurred at high frequencies in plants grown in the field, in a glasshouse, or as leaf tip cultures under fluorescent light, indicating that the plastome mutator activity is UV-independent. However, the chlorotic sectors became visible at an earlier stage of development when seedlings were irradiated, compared to seedlings that were not exposed to UV. These results imply that the rate of sorting-out was increased by the irradiation treatment, possibly due to a decrease in the effective number of multiplication-competent plastids, or a reduction in the extent of cytoplasmic mixing. Nitroso-methyl urea treatment of seeds had a dramatic effect on mutation frequency in both wild-type and plastome mutator samples. When the background mutation rates were low, the combination of the plastome mutator nucleus and the chemical mutagenesis treatment resulted in a synergistic effect, suggesting that the plastome mutator may involve a cpDNA repair pathway. (author)

Snakes of Cerrado localities in western Bahia, Brazil

OpenAIRE

de Freitas, Marco; Colli, Guarino; Entiauspe-Neto, Omar; Trinchão, Luiz; Araújo, Daniel; Lima, Tiago; de França, Daniella; Gaiga, Renato; Dias, Pedro

2016-01-01

We present a list of snake species found in 10 municipalities in the Cerrado of western Bahia state, Brazil. One hundred and twenty individuals of 46 species from seven families were examined. We also present a new state record for the genus Phalotris Cope, 1862 and a candidate new species for the genus Thamnodynastes Wagler, 1830.

GPR143 mutations in Chinese patients with ocular albinism type 1.

Science.gov (United States)

Jia, Xiuhua; Yuan, Jin; Jia, Xiaoyun; Ling, Shiqi; Li, Shiqiang; Guo, Xiangming

2017-05-01

The aim of the present study was to evaluate mutations of the G protein-coupled receptor 143 (GPR143) gene for ocular albinism type 1 (OA1) in Chinese patients. For the current study, 8 patients with OA1 were selected from the database of ocular genetic diseases. Genomic DNA of OA1 was prepared from venous leukocytes collected from the patients. Cycle sequencing was used to analyze the exons and adjacent introns of GPR143. The variation detected was analyzed by bidirectional DNA sequencing and further evaluated in 96 controls using heteroduplex‑single strand conformational polymorphism analysis. Additionally, slit lamp photography of anterior segment, fundus photography and optical coherence tomography (OCT) were performed to identify the clinical features of OA1. In five patients with OA1, 5 GPR143 gene mutations were identified and four of them there were novel mutations. The screening rate is 62.5%, including c.333G>A (p.W111X), c.353G>A (p.G118E) (known mutation), C.658+2T>G (splice mutation), c.215_216insCGCTGC (p.71‑72insAA) and c.17T>C (p. L6P). These mutations were absent in the 96 normal controls. Only one patient with OA1 in the present study was female. Patients with OA1 often have congenital nystagmus, refractive error, severe decline of visual acuity (from 0.1 to 0.4) and foveal hypoplasia. Different degrees of pigment loss were evident in the patients' iris and retina, whereas macular structure was not identified in the OCT examination. The findings of the present study expanded the gene mutation spectrum of GPR143 and investigated the clinical phenotype of patients with OA1 in the Chinese population. Additional evidence for clinical diagnosis was provided along with differential diagnosis and genetic counseling.

Mutations causative of familial hypercholesterolaemia

DEFF Research Database (Denmark)

Benn, Marianne; Watts, Gerald F; Tybjærg-Hansen, Anne

2016-01-01

causing mutations in 98 098 participants from the general population, the Copenhagen General Population Study. METHODS AND RESULTS: We genotyped for LDLR[W23X;W66G;W556S] and APOB[R3500Q] accounting for 38.7% of pathogenic FH mutations in Copenhagen. Clinical FH assessment excluded mutation information......-cholesterol concentration to discriminate between mutation carriers and non-carriers was 4.4 mmol/L. CONCLUSION: Familial hypercholesterolaemia-causing mutations are estimated to occur in 1:217 in the general population and are best identified by a definite or probable phenotypic diagnosis of FH based on the DLCN criteria....... The prevalence of the four FH mutations was 0.18% (1:565), suggesting a total prevalence of FH mutations of 0.46% (1:217). Using the Dutch Lipid Clinic Network (DLCN) criteria, odds ratios for an FH mutation were 439 (95% CI: 170-1 138) for definite FH, 90 (53-152) for probable FH, and 18 (13-25) for possible FH...

Dengue situation in Brazil by year 2000

Directory of Open Access Journals (Sweden)

Hermann G Schatzmayr

2000-01-01

Full Text Available Dengue virus types 1 and 2 have been isolated in Brazil by the Department of Virology, Instituto Oswaldo Cruz, in 1986 and 1990 respectively, after many decades of absence. A successful continental Aedes aegypti control program in the Americas, has been able to eradicate the vector in most countries in the 60's, but the program could not be sustained along the years. Dengue viruses were reintroduced in the American region and the infection became endemic in Brazil, like in most Central and SouthAmerican countries and in the Caribbean region, due to the weaning of the vector control programs in these countries. High demographic densities and poor housing conditions in large urban communities, made the ideal conditions for vector spreading. All four dengue types are circulating in the continent and there is a high risk of the introduction in the country of the other two dengue types in Brazil, with the development of large epidemics. After the Cuban episode in 1981, when by the first time a large epidemic of dengue hemorrhagic fever and dengue shock syndrome have been described in the Americas, both clinical presentations are observed, specially in the countries like Brazil, with circulation of more than one dengue virus type. A tetravalent potent vaccine seems to be the only possible way to control the disease in the future, besides rapid clinical and laboratory diagnosis, in order to offer supportive treatment to the more severe clinical infections.

Tackling drug and alcohol misuse in Brazil: priorities and challenges for nurses.

Science.gov (United States)

Rassool, G H; Villar-Luis, M

2004-12-01

To provide an overview of the extent of drug and alcohol misuse in Brazil and the policies and approaches in tackling substance misuse. An examination of the challenges facing the nursing profession in working with substance misusers is presented. Alcohol, cocaine, and cannabis are the most commonly misused psychoactive substances in Brazil. One of the biggest public health problems is the interface between the misuse of psychoactive substances and HIV prevalence and other sexually transmitted diseases. Findings from a recent study suggest that undergraduate nurses in Brazil are not adequately prepared in the care and management of substance misuse problems. The nursing profession in Brazil faces numerous challenges in the development of professional competence of nurses in this field. A strategy proposed is the creation of regional centres in Brazil to study the integration of substance use and misuse in the nursing undergraduate curriculum and the giving of specific support in teaching and research to nurse teachers. Nurses have a key role to play in the early recognition, assessment, prevention, and treatment of substance misuse.

Brazil in the global energy world

Energy Technology Data Exchange (ETDEWEB)

Kim, Frank D.; Vossoughi, Shapour [University of Kansas (KU), KS (United States)

2012-07-01

Brazil is the 10th largest energy consumer in the world and the third largest in the Western Hemisphere, behind the United States and Canada. Total primary energy consumption in Brazil has increased significantly in recent years; and over the past decade, Brazil has made great strides in increasing its total energy production, particularly oil. Brazil has the second-largest crude oil reserves in South America (behind Venezuela), and is one of the fastest growing oil producers in the world. According to United States Energy Information Administration (EIA), Brazil had 12.2 billion barrels of proven oil reserves in 2008. In 2007, Brazil's state owned Petroleo Brasileiro S.A. (PETROBRAS) announced that it had discovered an estimated 5-8 billion barrels of recoverable reserves (including both oil and natural gas) in the Tupi field, located in the Santos Basin. In 2008, subsequent discoveries were announced, to include Jupiter and Carioca (aka Sugar Loaf). Although PETROBRAS has yet to confirm the size of the discoveries, some industry analysts estimate the total extent of recoverable oil and natural gas reserves in the entire pre-salt layer have approached 40 to 80 billion barrels of oil equivalent. The reserves occur below a salt zone that is estimated to be 7,000 meters below the ocean surface. However, Brazil faces many challenges to recover the hydrocarbons to include technical, political, fiscal, and infrastructure hurdles. In spite of the challenges ahead, these discoveries transformed the nature and focus of Brazil's oil industry, economy, and future; and the potential impact of the pre-salt discoveries upon world oil markets is vast. The purpose of this paper is to discuss how the recent discoveries will affect Brazil's future and the impact it will have on the global energy world. (author)

Brazil: World Oil Report 1991

International Nuclear Information System (INIS)

Anon.

1991-01-01

This paper reports that Brazil's state oil company Petrobras has racked up a significant period of achievement over the last 12 months. Average daily oil production hit a new high. A small portion of deepwater giant Marlim field came onstream. Risk contracts ended, and the firm assumed all responsibility for exploration activity in Brazil. Furthermore, Santos basin proved to be the nation's most recent oil province after two discoveries. Last, but not least, Petrobras assumed a dominant position worldwide in development of new deepwater technology, as evidenced by papers presented at the 1991 Offshore Technology Conference. What is remarkable is that all this was achieved while the company was experiencing political turmoil. Last Oct. 19, Petrobras President Luis Octavio Motta Veiga resigned in a dispute with the Ministry of Economy (MOE) over refined product pricing levels. His replacement, interestingly enough, was the 36-year-old executive secretary of the MOE, Eduardo de Freitas Teixeira. His term at Petrobras lasted less than six months

Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.

Directory of Open Access Journals (Sweden)

Kentaro Mori

Full Text Available Sensorineural hearing loss is one of the most common neurosensory disorders in humans. The incidence of SNHL is estimated to be 1 in 500-1000 newborns. In more than half of these patients, the hearing loss is associated with genetic causes. In Japan, genetic testing for the patients with SNHL using the Invader assay to screen for 46 mutations in 13 deafness genes was approved by the Ministry of Health, Labour and Welfare for inclusion in social health insurance coverage in 2012. Furthermore, from August 2015, this genetic testing has been expanded to screen for 154 mutations in 19 deafness genes using targeted genomic enrichment with massively parallel DNA sequencing combined with the Invader assay and TaqMan genotyping. For this study we analyzed 717 unrelated Japanese hearing loss patients. The total allele frequency of 154 mutations in 19 deafness genes was 32.64% (468/1434 and the total numbers of cases associated with at least one mutation was 44.07% (316/717. Among these, we were able to diagnose 212 (30% patients, indicating that the present screening could efficiently identify causative mutations in hearing loss patients. It is noteworthy that 27 patients (3.8% had coexistent multiple mutations in different genes. Five of these 27 patients (0.7%, 5/717 overall were diagnosed with genetic hearing loss affected by concomitant with responsible mutations in more than two different genes. For patients identified with multiple mutations in different genes, it is necessary to consider that several genes might have an impact on their phenotypes.

Mutator activity in Schizophyllum commune

Energy Technology Data Exchange (ETDEWEB)

Shneyour, Y.; Koltin, Y. (Tel Aviv Univ. (Israel). Dept. of Microbiology)