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1.
J Investig Allergol Clin Immunol ; 34(1): 12-19, 2024 Feb 22.
Artículo en Inglés | MEDLINE | ID: mdl-37498647

RESUMEN

Plant species vary under different climatic conditions and the distribution of pollen in the air. Trends in pollen distribution can be used to assess the impact of climate change on public health. In 2015, the Mobile Airways Sentinel networK for rhinitis and asthma (MASK-air®) was launched as a project of the European Innovation Partnership on Active and Healthy Ageing (EIP-on-AHA, DG Santé and DG CONNECT). This project aimed to develop a warning system to inform patients about the onset of the pollen season, namely, the System for Integrated modeLling of Atmospheric coMposition (SILAM). A global-to-meso-scale dispersion model was developed by the Finnish Meteorological Institute (FMI). It provides quantitative information on atmospheric pollution of anthropogenic and natural origins, particularly on allergenic pollens. Impact of Air Pollution on Asthma and Rhinitis (POLLAR, EIT Health) has combined MASK-air clinical data with SILAM forecasts. A new Horizon Europe grant (Climate Action to Advance HeaLthY Societies in Europe [CATALYSE]; grant agreement number 101057131), which came into force in September 2022, aims to improve our understanding of climate change and help us find ways to counteractit. One objective of this project is to develop early warning systems and predictive models to improve the effectiveness of strategies for adapting to climate change. One of the warning systems is focused on allergic rhinitis (CATALYSE Task 3.2), with a collaboration between the FMI (Finland), Porto University (Portugal), MASK-air SAS (France), ISGlobal (Spain), Hertie School (Germany), and the University of Zurich (Switzerland). It is to be implemented with the support of the European Academy of Allergy and Clinical Immunology. This paper reports the planning of CATALYSE Task 3.2.


Asunto(s)
Asma , Rinitis Alérgica , Humanos , Alérgenos , Asma/epidemiología , Asma/etiología , Europa (Continente)/epidemiología , Catálisis
3.
Am J Trop Med Hyg ; 25(3): 530-1, 1976 May.
Artículo en Inglés | MEDLINE | ID: mdl-937638

RESUMEN

A case of disseminated South American blastomycosis with unilateral involvement of the ureter and hydronephrosis is described; it is the third such case to be reported.


Asunto(s)
Blastomicosis/complicaciones , Enfermedades Ureterales/etiología , Blastomicosis/diagnóstico , Humanos , Hidronefrosis/etiología , Masculino , Persona de Mediana Edad , Enfermedades Ureterales/diagnóstico
4.
Life Sci ; 65(10): PL101-7, 1999.
Artículo en Inglés | MEDLINE | ID: mdl-10499876

RESUMEN

A single exposure to the elevated plus-maze test of anxiety reduces or abolishes the anxiolytic efficacy of benzodiazepines. The present study was designed to examine whether this phenomenon of "one-trial tolerance" resulted from a motivational deficit on trial 2. We hypothesized that whereas there is a motivational conflict on trial 1 in relation to the open arms (exploration drive X natural fear of open spaces), there is no "reason" for an animal to explore it on trial 2. A motivational conflict was introduced on trial 2 by rendering the enclosed arms of the apparatus aversive on trial 1. Thus, every time rats entered the enclosed arms, an aversive situation (light and hot air blow) was produced until they left the arm. On trial 2, rats did not receive this aversive stimulation. Chlordiazepoxide significantly enhanced the percent open arm time as well as the percent open arm entries on trial 2 in rats that had been submitted to the aversive stimulation in the enclosed arms on trial 1, but was not effective in rats which had been exposed to the apparatus in the absence of the aversive stimulation on trial 1. In addition, there was no difference in the percent open arm time and entries on trial 2 between saline-treated rats submitted to the aversive or non-aversive condition on trial 1. The aversive condition on trial 1 did not modify the number of total arm entries on trial 2, either. The results suggest that the anxiolytic effect of chlordiazepoxide in the elevated plus-maze depends on the presence of a motivational conflict situation.


Asunto(s)
Ansiolíticos/farmacología , Conducta Animal/fisiología , Clordiazepóxido/farmacología , Conflicto Psicológico , Tolerancia a Medicamentos/fisiología , Aprendizaje por Laberinto/fisiología , Motivación , Animales , Masculino , Actividad Motora/efectos de los fármacos , Ratas , Ratas Wistar
5.
Rev Inst Med Trop Sao Paulo ; 38(1): 61-7, 1996.
Artículo en Inglés | MEDLINE | ID: mdl-8762642

RESUMEN

Antivenom in order to be effective in the treatment of coral snake accidents must be injected very soon after the bite owing to the rapid rate of absorption of the venom neurotoxins. As this is not always possible, other forms of treatment besides serotherapy must be employed to avoid asphyxia and death. Neostigmine and artificial respiration are used for this purpose. Neostigmine restores neuromuscular transmission if the venom-induced blockade results from a reversible interaction of its neurotoxins with the end-plate receptors. This is the mechanism of the neuromuscular blockade produced by the venom of M. frontalis snakes from centereastern and southern Brazil, and Argentine. Neostigmine is able, therefore, to antagonize the blockade, and has been shown to be very effective in the treatment of the experimental envenomation of dogs and monkeys. In the present communication, two cases of M. frontalis accidents treated with antivenom and neostigmine are reported. In both, neostigmine was successful in producing regression of the paralysis, confirming the effectiveness shown in the treatment of the poisoning induced in animals by M. frontalis venom.


Asunto(s)
Inhibidores de la Colinesterasa/farmacología , Elapidae , Neostigmina/uso terapéutico , Mordeduras de Serpientes/terapia , Adulto , Animales , Antivenenos/farmacología , Antivenenos/uso terapéutico , Inhibidores de la Colinesterasa/uso terapéutico , Perros , Venenos Elapídicos/farmacología , Venenos Elapídicos/toxicidad , Humanos , Masculino , Neostigmina/farmacología , Neostigmina/toxicidad , Respiración Artificial , Resultado del Tratamiento
6.
Rev Inst Med Trop Sao Paulo ; 36(5): 451-7, 1994.
Artículo en Portugués | MEDLINE | ID: mdl-7569613

RESUMEN

Type and frequency of early reactions (ER) were studied in 24 children aging 2-14 years victims of snake bites who received pretreatment with histamine antagonists H1 (dextrochlorfeniramine) and H2 (cimetidine or ranitidine) and hydrocortisone from 1989 to 1993. None of them had atopy nor received any type of anti-venoms(AV) and antitoxins before. Of 24 children, 15 received bothropic AV (ER in 5), 7 crotalic AV (ER in 5), 1 crotalic plus crotalic-bothropic AV, and 1 elapidic AV (ER in 1). In 3 children severe early reactions were observed and they were classified as severe crotalic accident. Results suggest that pre-treatment did not offer safety protection at the appearance of early reactions.


Asunto(s)
Antivenenos/uso terapéutico , Venenos de Crotálidos/envenenamiento , Venenos Elapídicos/envenenamiento , Mordeduras de Serpientes/terapia , Adolescente , Factores de Edad , Niño , Preescolar , Clorfeniramina/administración & dosificación , Cimetidina/administración & dosificación , Esquema de Medicación , Femenino , Antagonistas de los Receptores Histamínicos H1/administración & dosificación , Humanos , Hidrocortisona/administración & dosificación , Masculino , Ranitidina/administración & dosificación
7.
Rev Inst Med Trop Sao Paulo ; 43(6): 329-33, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11781603

RESUMEN

From January, 1984 to March, 1999, 73 children under 15 y old (ages 1-14 y, median 9 y) were admitted after being bitten by snakes of the genus Bothrops. Twenty-six percent of the children were classified as mild envenoming, 50.7% as moderate envenoming and 20.6% as severe envenoming. Two patients (2.7%) showed no signs of envenoming. Most of the patients presented local manifestations, mainly edema (94.5%), pain (94.5%) ecchymosis (73.9%) and blisters (11%). Local and/or systemic bleeding was observed in 28.8% of the patients. Before antivenom (AV) administration, blood coagulation disorders were observed in 60.7% (incoagulable blood in 39.3%) of the 56 children that received AV only in our hospital. AV early reactions, most of which were considered mild, were observed in 44.6% of these cases (in 15/30 patients not pretreated and in 10/26 patients pretreated with hydrocortisone and histamine H1 and H2 antagonists). The main clinical complications observed were local infection (15.1%), compartment syndrome (4.1%), gangrene (1.4%) and acute renal failure (1.4%). No deaths were recorded. There were no significant differences with regard to severity of envenoming versus the frequency of blood coagulation disorders among the three categories of envenoming (p = 0.75) or in the frequency of patients with AV early reactions between the groups that were and were not pretreated (p = 0.55). The frequency of local infection was significantly greater in severe cases (p < 0.001). Patients admitted more than 6 h after the bite had a higher risk of developing severe envenoming (p = 0.04).


Asunto(s)
Bothrops , Mordeduras de Serpientes/fisiopatología , Adolescente , Animales , Antivenenos/uso terapéutico , Brasil/epidemiología , Niño , Preescolar , Venenos de Crotálidos/envenenamiento , Femenino , Humanos , Lactante , Masculino , Pronóstico , Estudios Prospectivos , Mordeduras de Serpientes/epidemiología , Mordeduras de Serpientes/terapia , Factores de Tiempo
8.
Rev Inst Med Trop Sao Paulo ; 42(1): 17-21, 2000.
Artículo en Inglés | MEDLINE | ID: mdl-10742722

RESUMEN

From January, 1984 to December, 1996, 422 patients (ages 9 m-99 y, median 29 y) were admitted after being bitten by spiders which were brought and identified as Phoneutria spp. Most of the bites occurred at March and April months (29.2%), in the houses (54.5%), during the day (76.5%), and in the limbs (feet 40.9%, hands 34.3%). Upon hospital admission, most patients presented only local complaints, mainly pain (92.1%) and edema (33.1%) and were classified as presenting mild (89.8%), moderate (8.5%) and severe (0.5%) envenomation. Few patients (1.2%) did not present signs of envenomation. Severe accidents were only confirmed in two children (9 m, 3 y). Both developed acute pulmonary edema, and the older died 9 h after the accident. Patients more than 70 year-old had a significantly greater (p<0.05) frequency of moderate envenomations compared to the 10-70-year-old individuals. Proceedings to relief local pain were frequently performed (local anesthesia alone 32.0%, local anesthesia plus analgesics 20.6% and oral analgesics alone 25. 1%). Only 2.3% of the patients (two cases classified as severe and eight as moderate, eight of them in children) were treated with i.v. antiarachnid antivenom. No antivenom early reaction was observed. In conclusion, accidents involving the genus Phoneutria are common in the region of Campinas, with the highest risk groups being children under 10 years of age and adults over 70 years of age. Cases of serious envenomation are rare (0.5%).


Asunto(s)
Picaduras de Arañas/epidemiología , Arañas , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Animales , Brasil/epidemiología , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Picaduras de Arañas/complicaciones , Picaduras de Arañas/tratamiento farmacológico
9.
Cad Saude Publica ; 14 Suppl 3: 181-5, 1998.
Artículo en Inglés | MEDLINE | ID: mdl-9819477

RESUMEN

Antecedents of family aggregation of breast and ovarian cancer are observed in only 5-8% of all breast cancer cases. Nevertheless, this variable displays one of the highest risk ratios associated to breast cancer outcome. Despite recent identification of genetic mutations associated with family aggregation of these tumors, mainly at BRCA1 and BRCA2 genes, knowledge on the interaction between environmental agents in these families remains quite unclear. In this paper we ascertained the correlation among ages of the onset of breast/ovarian cancer in 260 Brazilian families with those cancer aggregations. Further we estimated the median age of the onset of breast cancer among four generations. We observed that the higher the number of family cancer cases, the highest is the correlation of ages for the onset of breast cancer. We also observed a 8-10 year decline in the mean age-of-onset of breast/ovarian cancer from one generation to another in the studied families. If these results could be confirmed elsewhere, we believe that the hypothesis of interaction between environmental risks factors in families indeed showing breast/ovarian cancer aggregation is reinforced.


Asunto(s)
Neoplasias de la Mama/epidemiología , Neoplasias Ováricas/epidemiología , Adulto , Edad de Inicio , Brasil/epidemiología , Neoplasias de la Mama/genética , Femenino , Humanos , Persona de Mediana Edad , Epidemiología Molecular , Neoplasias Ováricas/genética , Población Urbana/estadística & datos numéricos
10.
Sao Paulo Med J ; 118(3): 78-80, 2000 May 04.
Artículo en Inglés | MEDLINE | ID: mdl-10810333

RESUMEN

CONTEXT: Despite the absence of symptoms in the majority of patients carrying lead bullet fragments in their bodies, there needs to be an awareness of the possible signs and symptoms of lead intoxication when bullets are lodged in large joints like knees, hips and shoulders. Such patients merit closer follow-up, and even surgical procedure for removing the fragments. OBJECTIVE: To describe a patient who developed clinical lead intoxication several years after a gunshot wound. DESIGN: Case report. CASE REPORT: A single white 23-year-old male, regular job as a bricklayer, with a history of chronic alcohol abuse, showed up at the emergency department complaining of abdominal pain with colic, weakness, vomiting and diarrhea with black feces. All the symptoms had a duration of two to three weeks, and had been recurrent for the last two years, with calming during interval periods of two to three weeks. Abdominal radiograms showed a bullet lodged in the left hip, with a neat bursogram of the whole synovial capsule. A course of chelating treatment using calcium versenate (EDTACaNa2) intravenously was started. After the chelation therapy the patient had recurrence of his symptoms and a radical solution for the chronic mobilization of lead was considered. A hip arthroplasty procedure was performed, leading to complete substitution of the left hip.


Asunto(s)
Cabeza Femoral/lesiones , Intoxicación por Plomo/etiología , Heridas por Arma de Fuego/complicaciones , Adulto , Artroplastia de Reemplazo de Cadera , Quelantes/uso terapéutico , Ácido Edético/uso terapéutico , Humanos , Intoxicación por Plomo/tratamiento farmacológico , Masculino , Heridas por Arma de Fuego/tratamiento farmacológico , Heridas por Arma de Fuego/cirugía
12.
Braz J Med Biol Res ; 42(5): 453-7, 2009 May.
Artículo en Inglés | MEDLINE | ID: mdl-19377795

RESUMEN

Of all malignant neoplasias affecting women, breast cancer has the highest incidence rate in Brazil. The objective of the present study was to determine the frequency of genetic modifications in families with medium and high risk for breast and ovarian cancer from different regions of Brazil. An exploratory, descriptive study was carried out on the prevalence of the BRCA1 and BRCA2 mutations in case series of high-risk families for breast and/or ovarian cancer. After heredogram construction, a blood sample was taken and DNA extraction was performed in all index cases. The protein truncation test was used to screen for truncated mutations in exon 11 of the BRCA1 gene and in exons 10 and 11 of the BRCA2 gene. Of the 612 individuals submitted to genetic testing, 21 (3.4%), 19 women and 2 men, had mutations in the BRCA1 or BRCA2 genes. Of the 19 BRCA1 mutations found in the 18 participants, 7 consisted of ins6kb mutations, 4 were 5382insC, 3 were 2156delGinsCC, 2 were 185delAG, 1 was C1201G, 1 was C3522T, and 1 was 3450del4. With respect to the BRCA2 gene, 3 mutations were found: 5878del10, 5036delA and 4232insA (one case each). The prevalence of germline mutations in the BRCA1 and BRCA2 genes found in the present study was lower than reported by other studies on high-risk Brazilian populations. The inclusion of individuals with medium risk may have contributed to the lower prevalence observed.


Asunto(s)
Neoplasias de la Mama/genética , Genes BRCA1 , Genes BRCA2 , Mutación de Línea Germinal/genética , Neoplasias Ováricas/genética , Brasil , Neoplasias de la Mama Masculina/genética , Familia , Femenino , Predisposición Genética a la Enfermedad , Humanos , Masculino , Factores de Riesgo
13.
Ann Trop Med Parasitol ; 101(8): 733-43, 2007 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-18028735

RESUMEN

A previously healthy, 21-year-old female was admitted 5 h after being bitten in the occipital region by a pitviper presumed to be Bothrops jararaca. Physical examination revealed marked cranial and facial oedema extending to the neck and dorsum, bilateral eyelid ecchymosis, and local conjunctival and gingival bleeding. The patient was alert and complained of mild, local pain and nausea. There were no signs of neurological involvement. The main laboratory findings on admission included incoagulable blood, a platelet count of 4000/microl, and an ELISA-estimated serum venom concentration of 62.6 ng/ml. Sequential serum creatinine, urea nitrogen, sodium and potassium concentrations were normal. The case was classified as severe and, after the intravenous administration of ranitidine, chlorpheniramine and hydrocortisone, the intravenous infusion of 12 vials of undiluted bothropic equine antivenom [F(ab)(2); 10 ml/vial] was initiated. The antivenom infusion was halted after 10 vials because the patient developed a severe early reaction, although this was successfully treated with subcutaneous adrenaline and intravenous hydrocortisone. Platelet replacement (seven units) was performed and 24 h after the antivenom infusion, normal results in blood-coagulation tests and an increase in the platelet count (to 100,000/microl) were observed. No circulating venom was detected in blood samples collected 6, 12, 24 or 48 h post-admission. The patient was discharged after 4 days, with clinical improvement and no signs of local infection, and subsequent follow-up revealed no sequelae.


Asunto(s)
Antivenenos/efectos adversos , Bothrops , Venenos de Crotálidos/envenenamiento , Mordeduras de Serpientes/tratamiento farmacológico , Adulto , Animales , Femenino , Humanos , Factores Inmunológicos/uso terapéutico , Mordeduras de Serpientes/patología , Resultado del Tratamiento
14.
Arq. Inst. Biol. (Online) ; 77(1): 129-132, jan-mar, 2010. tab
Artículo en Portugués | VETINDEX, LILACS | ID: biblio-1382160

RESUMEN

Este trabalho teve como objetivo relatar a pesquisa de sorovares de leptospiras em animais de uma fazenda localizada no Município de Buriti dos Lopes, integrante da Bacia Leiteira de Parnaíba, Piauí, Brasil. Foram colhidas amostras de sangue de 18 vacas da raça Girolando que abortaram no período de julho de 2004 a abril de 2005. As amostras foram submetidas ao teste de soroaglutinação microscópica (SAM) utilizando-se antígenos vivos de 23 sorovares de leptospiras patogênicas. 83,33% (15/18) das amostras apresentaram aglutininas anti-leptospira, sendo 53,33% de sorovar Hardjoprajitno (8/15), 6,67% para Hardjobovis (1/15), Wolffi (1/15) e Shermani (1/15) e quatro (4/15) co-agluitinações. A amostra do reprodutor apresentou aglutininas antileptospira para o sorovar Hardjobovis com titulação 1:400 o que sugere que este animal teve participação na disseminação da infecção no rebanho.


This study aimed to report the leptospira serovar varieties in animals from a farm located in the county of Buriti dos Lopes, within the so-called "milk basin" of Parnaíba, state of Piauí, Brazil. Samples of blood were collected from 18 Girolando cows who aborted between July 2004 and April 2005, and a sample was taken from a breeder bull. The samples were subjected to the microscopic agglutination test (SAM), using live antigens of 23 pathogenic leptospira serovars. Serum samples were screened in the dilution of 1:100. Data analysis revealed that 83.33% (15/18) of the samples showed anti-leptospira agglutinins, of which 53.33% were for the Hardjoprajitno serovar (8/15), 6.67% each for Hardjobovis (1/15), Wolffi (1/15) and Shermani (1/15), along with 4 (4/15) coagglutinations. The breeder-bull sample showed anti-leptospira agglutinins for serovar Hardjobovis with titration of 1:400, suggesting that this animal had participated in the spread of the infection in the herd.


Asunto(s)
Animales , Bovinos , Aborto Veterinario/etiología , Leptospira , Brasil , Pruebas de Hemaglutinación/veterinaria , Pruebas Serológicas/veterinaria
15.
Z Mikrosk Anat Forsch ; 94(4): 696-704, 1980.
Artículo en Inglés | MEDLINE | ID: mdl-7456630

RESUMEN

The spleen-hypophysis relationship particularly the effect of splenectomy on the body growth rate was studied on young rats from both sexes. The following experimental groups were tested: 1. sham-operated controls; 2. splenectomized rats; 3. marsupialized-spleen rats; 4. parabiosis rats; 5. parabiosis plus splenectomy from only one animal. The results were taking in basis on the regression lines of the body weight increasing on time, during 11 weeks. In addition, the hypophysis weight, the volume of its lobes and the adenohypophysis alpha, beta and cromophobe cells nuclear volume were estimated. The results show that splenectomy provides a significant increasing of body weight. The splenectomized rats show furthermore, a significant hypophysis weight increasing, a hypertrophy of its anterior lobe and morphological evidences of functional hyperactivity of its alpha-cells (estimated towards its nuclear volume increasing). The results suggest that the growth rate increasing of splenectomized young rats depends upon the adenohypophysis alpha-cells hypersecretion.


Asunto(s)
Crecimiento , Hipófisis/fisiología , Bazo/fisiología , Esplenectomía , Animales , Peso Corporal , Núcleo Celular , Femenino , Masculino , Tamaño de los Órganos , Parabiosis , Adenohipófisis/fisiología , Ratas
16.
J Pediatr (Rio J) ; 76(4): 290-4, 2000.
Artículo en Portugués | MEDLINE | ID: mdl-14647658

RESUMEN

OBJECTIVE: To study the changes in methemoglobinemia of 17 children admitted with acute exposure to dapsone complicated by a methemoglobin concentration greater than 20% of the total hemoglobin. The children were treated with multiple doses of activated charcoal with or without the administration of methylene blue.PATIENTS AND METHODS: Seventeen patients (ages 1-13 y, median 3 y), were admitted 1-72 h after the ingestion of 100-1200 mg (median 350 mg, 10 patients) or an unknown amount of dapsone (7 patients). The methemoglobin blood concentrations upon admission ranged from 23.5%-49.7% (median 37.8%), and the main clinical features were cyanosis (17), tachycardia (17), vomiting (11) and tachypnea (8). All of the children received multiple doses of activated charcoal orally or via nasogastric tube (1g/kg, 10% solution, 4-6 times/day, 3-16 doses with a median of 8 doses). Twelve of the 14 patients with methemoglobin levels greater than 30% were also treated with a single dose of methylene blue (1-2% solution, 1-2 mg/kg) infused IV over 5 min.RESULTS: There was a progressive decrease in the methemoglobin levels after the beginning of both treatments (multiple doses of activated charcoal alone or associated with methylene blue), and only one dose of methylene blue was necessary. There were no significant statistical differences between the results of the two treatments according to the time-course decrease in methemoglobinemia (p=0.49 Wilcoxon test).CONCLUSIONS: Multiple doses of activated charcoal given when methemoglobin levels were greater than 20% can be considered as a possible treatment for pediatric patients, with or without the administration of methylene blue, after acute dapsone exposure.

17.
J Toxicol Clin Toxicol ; 38(4): 441-3, 2000.
Artículo en Inglés | MEDLINE | ID: mdl-10930062

RESUMEN

BACKGROUND: Mercury poisoning presents a variety of clinical pictures depending on chemical structure, amount absorbed, total mercury burden, and individual factors. Distant skin lesions, after subcutaneous injection of metallic mercury, have not been previously described. CASE REPORT: We present a homicidal, subcutaneous injection of mercury resulting in widespread skin lesions, remote from the radiologically visible mercury. The lesions appeared at 40 days and began to clear at 6 months after the injection.


Asunto(s)
Intoxicación del Sistema Nervioso por Mercurio/complicaciones , Intoxicación del Sistema Nervioso por Mercurio/diagnóstico , Enfermedades de la Piel/inducido químicamente , Adulto , Fibrosis/inducido químicamente , Fibrosis/patología , Fibrosis/cirugía , Antebrazo/diagnóstico por imagen , Reacción a Cuerpo Extraño/etiología , Reacción a Cuerpo Extraño/patología , Mano/diagnóstico por imagen , Humanos , Inyecciones Subcutáneas , Masculino , Mercurio/administración & dosificación , Mercurio/sangre , Mercurio/orina , Intoxicación del Sistema Nervioso por Mercurio/terapia , Radiografía , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/terapia , Espectrofotometría Atómica , Resultado del Tratamiento
18.
Braz. j. med. biol. res ; 42(5): 453-457, May 2009. tab
Artículo en Inglés | LILACS | ID: lil-511342

RESUMEN

Of all malignant neoplasias affecting women, breast cancer has the highest incidence rate in Brazil. The objective of the present study was to determine the frequency of genetic modifications in families with medium and high risk for breast and ovarian cancer from different regions of Brazil. An exploratory, descriptive study was carried out on the prevalence of the BRCA1 and BRCA2 mutations in case series of high-risk families for breast and/or ovarian cancer. After heredogram construction, a blood sample was taken and DNA extraction was performed in all index cases. The protein truncation test was used to screen for truncated mutations in exon 11 of the BRCA1 gene and in exons 10 and 11 of the BRCA2 gene. Of the 612 individuals submitted to genetic testing, 21 (3.4 percent), 19 women and 2 men, had mutations in the BRCA1 or BRCA2 genes. Of the 19 BRCA1 mutations found in the 18 participants, 7 consisted of ins6kb mutations, 4 were 5382insC, 3 were 2156delGinsCC, 2 were 185delAG, 1 was C1201G, 1 was C3522T, and 1 was 3450del4. With respect to the BRCA2 gene, 3 mutations were found: 5878del10, 5036delA and 4232insA (one case each). The prevalence of germline mutations in the BRCA1 and BRCA2 genes found in the present study was lower than reported by other studies on high-risk Brazilian populations. The inclusion of individuals with medium risk may have contributed to the lower prevalence observed.


Asunto(s)
Femenino , Humanos , Masculino , Neoplasias de la Mama/genética , Genes BRCA1 , Mutación de Línea Germinal/genética , Neoplasias Ováricas/genética , Brasil , Neoplasias de la Mama Masculina/genética , Familia , Predisposición Genética a la Enfermedad , Factores de Riesgo
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