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1.
Article in English | MEDLINE | ID: mdl-34360142

ABSTRACT

Workplaces can be high-risk environments for SARS-CoV-2 outbreaks and subsequent community transmission. Identifying, understanding, and implementing effective workplace SARS-CoV-2 infection prevention and control (IPC) measures is critical to protect workers, their families, and communities. A rapid review and meta-analysis were conducted to synthesize evidence assessing the effectiveness of COVID-19 IPC measures implemented in global workplace settings through April 2021. Medline, Embase, PubMed, and Cochrane Library were searched for studies that quantitatively assessed the effectiveness of workplace COVID-19 IPC measures. The included studies comprised varying empirical designs and occupational settings. Measures of interest included surveillance measures, outbreak investigations, environmental adjustments, personal protective equipment (PPE), changes in work arrangements, and worker education. Sixty-one studies from healthcare, nursing home, meatpacking, manufacturing, and office settings were included, accounting for ~280,000 employees based in Europe, Asia, and North America. Meta-analyses showed that combined IPC measures resulted in lower employee COVID-19 positivity rates (0.2% positivity; 95% CI 0-0.4%) than single measures such as asymptomatic PCR testing (1.7%; 95% CI 0.9-2.9%) and universal masking (24%; 95% CI 3.4-55.5%). Modelling studies showed that combinations of (i) timely and widespread contact tracing and case isolation, (ii) facilitating smaller worker cohorts, and (iii) effective use of PPE can reduce workplace transmission. Comprehensive COVID-19 IPC measures incorporating swift contact tracing and case isolation, PPE, and facility zoning can effectively prevent workplace outbreaks. Masking alone should not be considered sufficient protection from SARS-CoV-2 outbreaks in the workplace.


Subject(s)
COVID-19 , Workplace , Contact Tracing , Health Personnel , Humans , Personal Protective Equipment , SARS-CoV-2
2.
Clin Biochem ; 91: 26-30, 2021 May.
Article in English | MEDLINE | ID: mdl-33631127

ABSTRACT

BACKGROUND: Pyruvate kinase deficiency (PKD) is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene. The disease shows a marked variability in clinical expression. We studied the molecular features of nine unrelated Argentinian patients with congenital hemolytic anemia associated with erythrocyte pyruvate kinase deficiency. DESIGN AND METHODS: Routine hematologic investigations were performed to rule out other causes of chronic hemolytic anemia. Sanger sequencing and in-sílico analysis were carried out to identify and characterize the genetics variants. RESULTS: Six different novel missense variants were detected among the 18 studied alleles: c.661 G > C (Asp221His), c.956 G > T (Gly319Val), c.1595 G > C (Arg532Pro), c.347 G > A (Arg116Gln), c.1232 G > T (Gly411Val), c.1021G > A (Gly341Ser). Structural implications of amino-acid substitutions were correlated with the clinical phenotypes seen in the probands. CONCLUSIONS: This is the first comprehensive report on molecular characterization of pyruvate kinase deficiency in Argentina and the second from South America that would contribute to our knowledge on the distribution and frequency of PKLR variants in our population but also offer new insights into the interpretation of the effect of PKLR variants and phenotype.


Subject(s)
Alleles , Anemia, Hemolytic, Congenital Nonspherocytic/genetics , Mutation, Missense , Pyruvate Kinase/deficiency , Pyruvate Metabolism, Inborn Errors/genetics , Adolescent , Adult , Amino Acid Substitution , Argentina , Child , Child, Preschool , Female , Humans , Infant , Male , Pyruvate Kinase/genetics
4.
Arch. argent. pediatr ; 117(4): 267-270, ago. 2019. tab
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1054935

ABSTRACT

La deficiencia de glucosa-6-fosfato deshidrogenasa es la enzimopatía eritrocitaria causada por mutaciones en el gen G6PD, cuya herencia está ligada al cromosoma X. Se analizan las características clínicas y de laboratorio de 24 individuos con deficiencia de G6PD durante 25 años. La edad mediana al momento del diagnóstico fue 10,2 años (rango: 0,6-56,4). El 54,2 % de los pacientes fueron asintomáticos, mientras que el 25 % presentó anemia hemolítica crónica no esferocítica; el 12,5 %, ictericia neonatal y anemia hemolítica posinfecciones, y el 8,3 %, anemia hemolítica aguda pos ingesta de habas. Los 24 pacientes estudiados presentaron variantes descritas previamente en la literatura. Las características clínicas observadas estuvieron acordes con las variantes encontradas. Veintiuna mujeres, pertenecientes a la rama materna de los individuos afectados, pudieron ser identificadas por biología molecular como portadoras de la deficiencia, por lo que recibieron el consejo genético correspondiente.


Glucose-6-phosphate dehydrogenase deficiency is an erythrocyte enzyme disorder caused by mutations in the G6PD gene, which has an X-linked inheritance. Here we analyze the clinical and laboratory characteristics of 24 subjects with G6PD deficiency over 25 years. Their median age at diagnosis was 10.2 years (range: 0.6-56.4). No symptoms were observed in 54.2 % of patients, whereas 25 % had chronic non-spherocytic hemolytic anemia; 12.5 %, neonatal jaundice and postinfectious hemolytic anemia; and 8.3 %, acute hemolytic anemia after ingestion of fava beans. The 24 studied patients had variants that had been previously described in the bibliography. The clinical characteristics observed here were consistent with the variants found. A total of 21 women from the maternal line of affected subjects were identified as deficiency carriers using molecular biology techniques, so they received the corresponding genetic counseling.


Subject(s)
Humans , Male , Female , Child , Diagnosis , Glucosephosphate Dehydrogenase Deficiency , Metabolism, Inborn Errors , Molecular Biology
5.
Arch Argent Pediatr ; 117(4): 263-270, 2019 08 01.
Article in English, Spanish | MEDLINE | ID: mdl-31339274

ABSTRACT

Glucose-6-phosphate dehydrogenase deficiency is an erythrocyte enzyme disorder caused by mutations in the G6PD gene, which has an X-linked inheritance. Here we analyze the clinical and laboratory characteristics of 24 subjects with G6PD deficiency over 25 years. Their median age at diagnosis was 10.2 years (range: 0.6-56.4). No symptoms were observed in 54.2 % of patients, whereas 25 % had chronic non-spherocytic hemolytic anemia; 12.5 %, neonatal jaundice and postinfectious hemolytic anemia; and 8.3 %, acute hemolytic anemia after ingestion of fava beans. The 24 studied patients had variants that had been previously described in the bibliography. The clinical characteristics observed here were consistent with the variants found. A total of 21 women from the maternal line of affected subjects were identified as deficiency carriers using molecular biology techniques, so they received the corresponding genetic counseling.


La deficiencia de glucosa-6-fosfato deshidrogenasa es la enzimopatía eritrocitaria causada por mutaciones en el gen G6PD, cuya herencia está ligada al cromosoma X. Se analizan las características clínicas y de laboratorio de 24 individuos con deficiencia de G6PD durante 25 años. La edad mediana al momento del diagnóstico fue 10,2 años (rango: 0,6-56,4). El 54,2 % de los pacientes fueron asintomáticos, mientras que el 25 % presentó anemia hemolítica crónica no esferocítica; el 12,5 %, ictericia neonatal y anemia hemolítica posinfecciones, y el 8,3 %, anemia hemolítica aguda pos ingesta de habas. Los 24 pacientes estudiados presentaron variantes descritas previamente en la literatura. Las características clínicas observadas estuvieron acordes con las variantes encontradas. Veintiuna mujeres, pertenecientes a la rama materna de los individuos afectados, pudieron ser identificadas por biología molecular como portadoras de la deficiencia, por lo que recibieron el consejo genético correspondiente.


Subject(s)
Glucosephosphate Dehydrogenase Deficiency/diagnosis , Glucosephosphate Dehydrogenase Deficiency/genetics , Adolescent , Adult , Argentina , Child , Child, Preschool , Female , Genotype , Humans , Infant , Male , Middle Aged , Phenotype , Retrospective Studies , Young Adult
7.
Clin Biochem ; 49(10-11): 808-10, 2016 Jul.
Article in English | MEDLINE | ID: mdl-26827633

ABSTRACT

OBJECTIVE: The enzyme glucose-6-phosphate dehydrogenase (G6PD) catalyses the first step in the pentose phosphate pathway, producing nicotinamide adenine dinucleotide phosphate (NADPH). NADPH plays a crucial role in preventing oxidative damage to proteins and other molecules in cells, mostly red blood cells. G6PD deficiency has an x-linked pattern of inheritance in which hemizygous males are deficient, while females may or may not be deficient depending on the number of affected alleles. We report two novel DNA variants in the G6PD gene detected in two male probands with chronic nonspherocytic hemolytic anemia (CNSHA), who were referred for hematological evaluation. METHOD: Probands and their relatives underwent clinical, biochemical, and molecular assessment. RESULTS: Two novel DNA variants, c.995C>T and c.1226C>A, were found in this study. At the protein level, they produce the substitution of Ser332Phe and Pro409Gln, respectively. These DNA variants were analyzed in the female relatives of probands for genetic counseling. CONCLUSIONS: The novel DNA variants were classified as class I based on the clinical, biochemical, and molecular evaluations performed.


Subject(s)
Biomarkers/metabolism , DNA/genetics , Genetic Variation/genetics , Glucosephosphate Dehydrogenase Deficiency/enzymology , Glucosephosphate Dehydrogenase Deficiency/genetics , Glucosephosphate Dehydrogenase/genetics , Child, Preschool , Erythrocytes/enzymology , Erythrocytes/pathology , Female , Glucosephosphate Dehydrogenase/chemistry , Hematologic Tests , Humans , Male , Polymerase Chain Reaction , Prognosis , Protein Conformation
8.
Medicina (B Aires) ; 75(6): 404-6, 2015.
Article in Spanish | MEDLINE | ID: mdl-26707665

ABSTRACT

The co-inheritance of erythrocyte defects, hemoglobinopathies, enzymopathies, and membranopathies is not an unusual event. For the diagnosis, a laboratory strategy, including screening and confirmatory tests, additional to molecular characterization, was designed. As the result of this approach, a 24-year-old man carrying a hemoglobinopathy (Hemoglobin Woodville) and an enzymopathy (glucose-6-phosphate dehydrogenase deficiency) was identified. In the heterozygous state hemoglobin Woodville, is asymptomatic, and homozygous or double heterozygous individuals have not been reported thus far. On the other hand, previously described double point mutation in the gene for glucose-6-phosphate dehydrogenase c. [202G>A; 376A>G], p. [Val 68Met; Asn126Asp], causes hemolysis of varying severity after food or drug intake or infections. This case highlights the importance of the methodology carried out for the diagnosis, treatment, and proper genetic counseling.


Subject(s)
Glucosephosphate Dehydrogenase Deficiency/genetics , Glucosephosphate Dehydrogenase/genetics , Hemoglobinopathies/complications , Hemoglobins, Abnormal/genetics , Point Mutation , Child, Preschool , Genetic Counseling , Glucosephosphate Dehydrogenase Deficiency/complications , Hemoglobinopathies/genetics , Hemolysis , Heterozygote , Humans , Male , Young Adult
9.
Hemoglobin ; 38(6): 444-6, 2014.
Article in English | MEDLINE | ID: mdl-25268796

ABSTRACT

ß-Thalassemia intermedia (ß-TI) patients present with a wide spectrum of phenotypes depending on the presence of primary, secondary, and tertiary genetic modifiers which modulate, by different mechanisms, the degree of imbalance between α and ß chains. Here we describe a new ß(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in four members of a family, associated with secondary genetic modifiers in three of them. The different genotype present in this family was suspected after hematological analysis and thorough observation of blood smears highlighting their importance in the identification of ß-TI patients among members of the same family.


Subject(s)
Family , Frameshift Mutation , Genes, Modifier , Hemoglobins, Abnormal/genetics , beta-Globins/genetics , beta-Thalassemia/genetics , Adult , Argentina , Female , Humans , Male
10.
Theor Appl Genet ; 120(7): 1381-91, 2010 May.
Article in English | MEDLINE | ID: mdl-20087568

ABSTRACT

Common bean can be grown as a grain crop (dry beans) or as a fresh vegetable (snap beans/green beans), both items being important in nutritional terms for providing essential minerals and vitamins to the diet. Snap beans are thought to be derived predominantly from dry beans of the Andean genepool and to be of a recent European origin; however, the existence of Mesoamerican genepool characteristics especially in traditional indeterminate growth habit snap beans indicates a wider origin. The objective of this study was to evaluate genetic diversity within a set of 120 indeterminate (pole type) snap beans and 7 control genotypes representing each genepool using amplified fragment length polymorphism (AFLP) and simple sequence repeat or microsatellite (SSR) markers. The genotypes were predominantly from Asia, Europe and the United States but included some varieties from Latin America and Africa. AFLP polymorphism ranged from 53.2 to 67.7% while SSR polymorphism averaged 95.3% for the 32 fluorescent and 11 non-fluorescent markers evaluated and total expected heterozygosity was higher for SSR markers (0.521) than for AFLP markers (0.209). Both marker systems grouped the genotypes into two genepools with Andean and Mesoamerican controls, respectively, with the Mesoamerican group being predominant in terms of the number of genotypes assigned to this genepool. Phaseolin alleles were not tightly associated with genepool assignment indicating that introgression of this locus had occurred between the genepools, especially with phaseolin "S" in the Andean group (23.5%) and phaseolins "T" and "C" in the Mesoamerican group (12.2 and 8.2%, respectively). The implications of these results on the origin of pole type snap beans and on breeding strategies for this horticultural crop are discussed.


Subject(s)
Fabaceae/genetics , Gene Pool , Genetic Variation , Inbreeding , Internationality , Alleles , Amplified Fragment Length Polymorphism Analysis , Fabaceae/growth & development , Fluorescence , Heterozygote , Microsatellite Repeats/genetics , Phylogeny
11.
Rev. odontol. UNESP ; 35(4): 263-268, out.-dez. 2006. ilus, tab
Article in Portuguese | LILACS, BBO - Dentistry | ID: biblio-858464

ABSTRACT

O objetivo deste estudo foi estimar a prevalência de ansiedade ao tratamento odontológico entre pacientes da Clínica Integrada da Faculdade de Odontologia de Araraquara, UNESP. Material e Método: A amostra era composta por 60 pacientes tomados deforma não-probabilística. Como instrumento de medida, utilizou-se um formulário com questões para avaliação da ansiedade segundo a escala proposta por Corah e traduzida para o português por Pereira et al. Os dados foram descritos em forma de distribuição de freqüências, e as associações entre nível de ansiedade e sexo, idade, renda e educação foram analisadas pelo teste de qui-quadrado (χ2). Resultado: A prevalência de ansiedade foi observada em 95 porcento dos pacients, tendo a maioria (53,3 porcento) apresentado nível moderado, 25,0% ansiedade baixa e 16,7% exacerbada; verificou-se associação significativa entre ansiedade e sexo (p = 0,001) e não-significativa para idade (p = 0,754), renda (p = 0,307) e nível de instrução (p = 0,711). O período de retorno ao tratamento odontológico a cada 6 meses foi observado em apenas 2 pacientes (3,3%), enquanto 40 % dos pacientes procuraram por atendimento apenas em situações de "dor". Entre os procedimentos que mais incomodaram os pacientes estão os que envolvem "motor de alta rotação" e "cirurgia", correspondendo a 21,7% em cada situação. Vinte por cento da amostra não se sentiram incomodados com qualquer procedimento odontológico, enquanto 10% se referiram a desconforto diante de qualquer procedimento a ser realizado. Conclusão: Concluiu-se que a prevalência de ansiedade ao tratamento odontológico foi de 95 % com predomínio do gênero feminino e que, entre pacientes ansiosos, o retorno ao consultório ocorreu por motivo de dor


Objective: The aim of this study was to estimate the prevalence of dental anxiety among patients undergoing dental treatment at Araraquara Dental School ­ UNESP. Material and Methods: It was performed a transversal study using a sample of convenience given by 60 patients. Dental anxiety was analysed using Corah's Dental Anxiety Scale (DAS)11. It was applied descriptive statistics and chi-squared test (χ2) was used to determine the relationship between level of anxiety and sex, age (<35 age and 35 year and above), income and educational level. Results: The results showed that 53.3% presented a moderate level of anxiety, 25% low level and 16.7% were fobic, leading to a prevalence of 95%. The association between level of anxiety according to sex was significant (p = 0.001) and it was non-significant in relation to age (p = 0.754), income (p = 0.307) and educational level (p = 0.711). Only two patients returned to visit the dentist within a 6-month period, while 40% looked for dental care when they had pain. The dental situations that produced anxiety were high-speed turbine (21.7%) and surgery (21.7%). Twenty percent of the sample didn't feel uncomfortable about any kind of dental treatment, while 10% felt uncomfortable about any one of the proceedings. Conclusion: The prevalence of dental anxiety was 95%, with predominance in the female sex and anxious patients looked for dental treatment only when they had pain


Subject(s)
Patients , Chi-Square Distribution , Surveys and Questionnaires , Dental Anxiety , Dental Care , Epidemiology , Prevalence
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