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6.
Genet Test Mol Biomarkers ; 26(4): 220-227, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-35394812

RESUMO

Background: Fragment analysis of exon 1 of the human androgen receptor, known as HUMARA, is a polymerase chain reaction (PCR)-based method for detecting X-linked agammaglobulinemia (XLA) carriers. This method takes advantage of X-chromosome inactivation (XCI) in female cells. XLA is caused by mutations in the Bruton tyrosine kinase (BTK) gene, located in Xq22.1. In this study, XCI is nonrandom or skewed in B-cells. B-cells with an active X-chromosome carrying a BTK mutation do not mature. Peripheral B-cells in XLA carriers inactivate the mutated X-chromosome. Methods: HUMARA was performed using DNA from purified B-cells and total leukocytes. DNA was digested using methylation-sensitive HhaI. The PCR of the HUMARA polymorphic marker was performed with the HhaI digested samples. The lengths of the PCR products were determined. If a suspected carrier showed skewed XCI in their B-cells, the marker length that corresponded with the length determined in the index patient indicated their carrier status. Results: HUMARA was conducted on purified B-cells; this allowed easier identification of the mutated or inactive allele, as the active allele was enzymatically digested. Analysis of 30 possible carriers using modified HUMARA corroborated that the carrier status in all samples that were heterozygous for the marker using XCI calculation for leukocytes showed a Gaussian distribution, while the carrier B-cell DNA showed a skewed XCI. Conclusion: Carrier status was successfully determined for most of the analyzed samples. B-cell enrichment resulted in precise carrier determination data, reduced the sample size, and facilitated inactive and active allele identification.


Assuntos
Agamaglobulinemia , Doenças Genéticas Ligadas ao Cromossomo X , Agamaglobulinemia/diagnóstico , Agamaglobulinemia/genética , Feminino , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Heterozigoto , Humanos , Inativação do Cromossomo X/genética
7.
Arch. argent. pediatr ; 116(3): 437-441, jun. 2018. tab, ilus
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-950022

RESUMO

La hipertensión pulmonar asociada a la infección por virus de inmunodeficiencia humana es una enfermedad sumamente infrecuente en pediatría, por lo que requiere alta sospecha clínica para llegar a su diagnóstico. Su aparición es de pronóstico desfavorable, pero el diagnóstico precoz y el tratamiento específico pueden mejorar su evolución. Se presenta el caso clínico de un paciente de 15 años con diagnóstico de infección por virus de inmunodeficiencia humana de transmisión vertical, sin tratamiento antirretroviral, con tos y disnea de esfuerzo progresiva asociadas a signos de falla cardíaca derecha en el cual se diagnosticó hipertensión pulmonar grave. Luego de descartarse otras causas, se asumió la hipertensión pulmonar asociada a la infección por virus de inmunodeficiencia humana. Se realizó el tratamiento con sildenafil y presentó buena respuesta.


Pulmonary hypertension associated with human immunodeficiency virus infection is an extremely rare disease in pediatrics; it requires a high clinical suspicion to reach a diagnosis. Its appearance poses an unfavorable prognostic, but early diagnosis and specific treatment can improve outcomes. We report the clinical case of a fifteen-year-old patient diagnosed with human immunodeficiency virus infection of vertical transmission, without antiretroviral treatment, with cough and progressive exertional dyspnea, associated with signs of right heart failure in which severe pulmonary hypertension was diagnosed. After discarding other causes, it was assumed pulmonary hypertension associated with human immunodeficiency virus infection. Treatment was performed with sildenafil with good response.


Assuntos
Humanos , Adolescente , Vasodilatadores/uso terapêutico , Infecções por HIV/complicações , Citrato de Sildenafila/uso terapêutico , Hipertensão Pulmonar/tratamento farmacológico , Índice de Gravidade de Doença , Infecções por HIV/transmissão , Resultado do Tratamento , Transmissão Vertical de Doenças Infecciosas , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/virologia , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/virologia
8.
Arch Argent Pediatr ; 116(3): e437-e441, 2018 06 01.
Artigo em Espanhol | MEDLINE | ID: mdl-29756719

RESUMO

Pulmonary hypertension associated with human immunodeficiency virus infection is an extremely rare disease in pediatrics; it requires a high clinical suspicion to reach a diagnosis. Its appearance poses an unfavorable prognostic, but early diagnosis and specific treatment can improve outcomes. We report the clinical case of a fifteen-year-old patient diagnosed with human immunodeficiency virus infection of vertical transmission, without antiretroviral treatment, with cough and progressive exertional dyspnea, associated with signs of right heart failure in which severe pulmonary hypertension was diagnosed. After discarding other causes, it was assumed pulmonary hypertension associated with human immunodeficiency virus infection. Treatment was performed with sildenafil with good response.


La hipertensión pulmonar asociada a la infección por virus de inmunodeficiencia humana es una enfermedad sumamente infrecuente en pediatría, por lo que requiere alta sospecha clínica para llegar a su diagnóstico. Su aparición es de pronóstico desfavorable, pero el diagnóstico precoz y el tratamiento específico pueden mejorar su evolución. Se presenta el caso clínico de un paciente de 15 años con diagnóstico de infección por virus de inmunodeficiencia humana de transmisión vertical, sin tratamiento antirretroviral, con tos y disnea de esfuerzo progresiva asociadas a signos de falla cardíaca derecha en el cual se diagnosticó hipertensión pulmonar grave. Luego de descartarse otras causas, se asumió la hipertensión pulmonar asociada a la infección por virus de inmunodeficiencia humana. Se realizó el tratamiento con sildenafil y presentó buena respuesta.


Assuntos
Infecções por HIV/complicações , Hipertensão Pulmonar/tratamento farmacológico , Citrato de Sildenafila/uso terapêutico , Vasodilatadores/uso terapêutico , Adolescente , Infecções por HIV/transmissão , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/virologia , Humanos , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/virologia , Transmissão Vertical de Doenças Infecciosas , Masculino , Índice de Gravidade de Doença , Resultado do Tratamento
9.
Biomed Res Int ; 2018: 2582179, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29808165

RESUMO

Thyroid cancer is the most frequent endocrine malignancy, and its incidence and prevalence are increasing worldwide. Despite its generally good prognosis, the observed mortality rates are higher in the less-developed regions. This indicates that timely diagnosis and appropriate initial management of this disease are important to achieve a positive outcome. We performed an observational study in order to describe the frequency of the BRAF 1799T>A mutation in Mexican mestizo patients with thyroid nodules, a scarcely studied ethnic group with large populations. Competitive allele-specific Taqman PCR was performed in 147 samples of thyroid tissue DNA obtained from patients histologically diagnosed with papillary thyroid cancer (PTC), colloid goiters, and follicular adenomas. The BRAF 1799T>A mutation frequency was 61.1% in PTC samples (p = 4.99 × 10-11). Potential diagnostic values were as follows: sensitivity, 61.1%; specificity, 96%; PPV, 94.2%; NPV, 69.5%; accuracy, 77.9%. Taking into account the fact that this mutation is not frequently found in cytologically indeterminate nodules, we suggest that the BRAF mutational analysis should be implemented in the clinical setting along with other diagnostic criteria such as USG, in order to contribute to diagnosis and to surgical decision-making during the initial management of thyroid nodules in Mexican public hospitals.


Assuntos
Carcinoma Papilar/epidemiologia , Carcinoma Papilar/genética , Mutação/genética , Proteínas Proto-Oncogênicas B-raf/genética , Neoplasias da Glândula Tireoide/epidemiologia , Neoplasias da Glândula Tireoide/genética , Adulto , Feminino , Predisposição Genética para Doença , Humanos , Masculino , México/epidemiologia , Pessoa de Meia-Idade , Câncer Papilífero da Tireoide
10.
Arch. argent. pediatr ; 115(6): 391-396, dic. 2017. tab
Artigo em Inglês, Espanhol | LILACS | ID: biblio-1038396

RESUMO

En la asistencia de niños y adolescentes enfermos de tuberculosis, se deben conocer las dificultades que tienen muchas familias para acceder a la atención médica y al diagnóstico y tratamiento oportuno. El trabajador social actúa junto con otros integrantes del equipo de salud, lo que facilita el acceso a los recursos y beneficios asistenciales que pueden favorecer la adherencia al tratamiento y fortalecer la salud de esa población vulnerable. Si bien el propósito que engloba el accionar del trabajador social en esta enfermedad es contribuir a disminuir el riesgo de infectarse, enfermar o morir de tuberculosis, la situación epidemiológica actual de esta patología en Argentina ha puesto al trabajador social frente al desafío de replantearse nuevas estrategias de intervención y revisión de objetivos. El objetivo de este trabajo es plantear su rol y proponer acciones que pueden contribuir a disminuir la morbimortalidad por tuberculosis en niños y adolescentes.


In the care of children and adolescents with tuberculosis (TB), it is necessary to know the difficulties that many families have in accessing health care, obtaining a diagnosis, and receiving a timely treatment. Social workers, along with other members of the health care team, assist in providing access to health care resources and benefits that may favor treatment compliance and strengthen the health of this vulnerable population. Although the purpose of social workers involvement in this disease is to reduce the risk of becoming infected, sick or dying from TB, the current epidemiological situation of this disease in Argentina has faced social workers with the challenge of reconsidering new intervention strategies and revising current objectives. This study addresses their role and proposes actions that may contribute to decreasing TB morbidity and mortality in children and adolescents.


Assuntos
Humanos , Criança , Adolescente , Atenção Primária à Saúde , Serviço Social , Tuberculose , Criança
11.
Arch Argent Pediatr ; 115(6): e391-e396, 2017 Dec 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29087121

RESUMO

In the care of children and adolescents with tuberculosis (TB), it is necessary to know the difficulties that many families have in accessing health care, obtaining a diagnosis, and receiving a timely treatment. Social workers, along with other members of the health care team, assist in providing access to health care resources and benefits that may favor treatment compliance and strengthen the health of this vulnerable population. Although the purpose of social workers involvement in this disease is to reduce the risk of becoming infected, sick or dying from TB, the current epidemiological situation of this disease in Argentina has faced social workers with the challenge of reconsidering new intervention strategies and revising current objectives. This study addresses their role and proposes actions that may contribute to decreasing TB morbidity and mortality in children and adolescents.


En la asistencia de niños y adolescentes enfermos de tuberculosis, se deben conocer las dificultades que tienen muchas familias para acceder a la atención médica y al diagnóstico y tratamiento oportuno. El trabajador social actúa junto con otros integrantes del equipo de salud, lo que facilita el acceso a los recursos y beneficios asistenciales que pueden favorecer la adherencia al tratamiento y fortalecer la salud de esa población vulnerable. Si bien el propósito que engloba el accionar del trabajador social en esta enfermedad es contribuir a disminuir el riesgo de infectarse, enfermar o morir de tuberculosis, la situación epidemiológica actual de esta patología en Argentina ha puesto al trabajador social frente al desafío de replantearse nuevas estrategias de intervención y revisión de objetivos. El objetivo de este trabajo es plantear su rol y proponer acciones que pueden contribuir a disminuir la morbimortalidad por tuberculosis en niños y adolescentes.


Assuntos
Assistentes Sociais , Tuberculose Pulmonar/prevenção & controle , Adolescente , Distribuição por Idade , Argentina/epidemiologia , Criança , Humanos , Relações Profissional-Paciente , Tuberculose Pulmonar/diagnóstico , Tuberculose Pulmonar/mortalidade , Tuberculose Pulmonar/transmissão , Adulto Jovem
12.
Arch. argent. pediatr ; 114(5): e357-e361, oct. 2016. ilus, tab
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-838283

RESUMO

El síndrome hemofagocítico secundario es infrecuente en pediatría y, más aun, asociado a tuberculosis. Presentamos el caso de una paciente con síndrome de inmunodeficiencia adquirida, tuberculosis diseminada y síndrome hemofagocítico. Niña de 8 años, condiagnóstico de síndrome deinmunodeficiencia adquirida, que se internó por fiebre, vómitos y dolor abdominal. Presentaba distensión abdominal, deshidratación, taquipnea, rales subcrepitantes y sibilancias en ambos pulmones, anemia, plaquetopenia y alteración de la coagulación. Recibió antibióticos de amplio espectro y se realizó una laparotomía exploradora con apendicectomia y biopsia ganglionar. A las 72 horas, presentó convulsión tónico clónica, deterioro del sensorio, fiebre, hipoxemia, hepatoesplenomegalia, ascitis y edema periférico. Presentaba bicitopenia, hiperferritinemia y examen microscópico de médula ósea con hemofagocitosis. Recibió gammaglobulina intravenosa, corticoides y transfusiones sanguíneas. Se aisló Mycobacterium tuberculosis del aspirado gástrico, médula ósea y biopsia ganglionar abdominal. Se trató con isoniacida, rifampicina, estreptomicina y etambutol, y presentó franca mejoría.


The secondary hemophagocytic syndrome is rare in children and even rarer associated with tuberculosis. e report the case of a patient with acquired immunodeficiency syndrome, disseminated tuberculosis and hemophagocytic syndrome. An 8-year-old girl, diagnosed with acquired immunodeficiency syndrome, was admitted due to fever, vomiting and abdominal pain. She presented abdominal distension, dehydration, tachypnea, crackles and wheezing in both lungs, anemia, thrombocytopenia and coagulopathy. She received broad-spectrum antibiotics and exploratory laparotomy was performed with appendectomy and lymph node biopsy. After 72 hours the patient presented tonic clonic seizure, impaired sensory, fever, hypoxemia, hepatosplenomegaly, ascites and peripheral edema. She developed bicytopenia, hyperferritinemia and bone marrow microscopic examination with hemophagocytosis. She received intravenous gammaglobulin, steroids and blood transfusions. Mycobacterium tuberculosis was cultured in gastric aspirate, bone marrow and abdominal lymph node biopsy. She was treated with isoniazid, rifampicin, streptomycin and ethambutol, showing marked improvement.


Assuntos
Humanos , Feminino , Criança , Tuberculose/complicações , Síndrome de Imunodeficiência Adquirida/complicações , Linfo-Histiocitose Hemofagocítica/etiologia
13.
Arch Argent Pediatr ; 114(5): e357-61, 2016 Oct 01.
Artigo em Espanhol | MEDLINE | ID: mdl-27606663

RESUMO

The secondary hemophagocytic syndrome is rare in children and even rarer associated with tuberculosis. e report the case of a patient with acquired immunodeficiency syndrome, disseminated tuberculosis and hemophagocytic syndrome. An 8-year-old girl, diagnosed with acquired immunodeficiency syndrome, was admitted due to fever, vomiting and abdominal pain. She presented abdominal distension, dehydration, tachypnea, crackles and wheezing in both lungs, anemia, thrombocytopenia and coagulopathy. She received broad-spectrum antibiotics and exploratory laparotomy was performed with appendectomy and lymph node biopsy. After 72 hours the patient presented tonic clonic seizure, impaired sensory, fever, hypoxemia, hepatosplenomegaly, ascites and peripheral edema. She developed bicytopenia, hyperferritinemia and bone marrow microscopic examination with hemophagocytosis. She received intravenous gammaglobulin, steroids and blood transfusions. Mycobacterium tuberculosis was cultured in gastric aspirate, bone marrow and abdominal lymph node biopsy. She was treated with isoniazid, rifampicin, streptomycin and ethambutol, showing marked improvement.


El síndrome hemofagocítico secundario es infrecuente en pediatría y, más aun, asociado a tuberculosis. Presentamos el caso de una paciente con síndrome de inmunodeficiencia adquirida, tuberculosis diseminada y síndrome hemofagocítico. Niña de 8 años, condiagnóstico de síndrome deinmunodeficiencia adquirida, que se internó por fiebre, vómitos y dolor abdominal. Presentaba distensión abdominal, deshidratación, taquipnea, rales subcrepitantes y sibilancias en ambos pulmones, anemia, plaquetopenia y alteración de la coagulación. Recibió antibióticos de amplio espectro y se realizó una laparotomía exploradora con apendicectomia y biopsia ganglionar. A las 72 horas, presentó convulsión tónico clónica, deterioro del sensorio, fiebre, hipoxemia, hepatoesplenomegalia, ascitis y edema periférico. Presentaba bicitopenia, hiperferritinemia y examen microscópico de médula ósea con hemofagocitosis. Recibió gammaglobulina intravenosa, corticoides y transfusiones sanguíneas. Se aisló Mycobacterium tuberculosis del aspirado gástrico, médula ósea y biopsia ganglionar abdominal. Se trató con isoniacida, rifampicina, estreptomicina y etambutol, y presentó franca mejoría.


Assuntos
Síndrome de Imunodeficiência Adquirida/complicações , Linfo-Histiocitose Hemofagocítica/etiologia , Tuberculose/complicações , Criança , Feminino , Humanos
14.
Arch. argent. pediatr ; 113(6): 491-497, dic. 2015. graf, tab
Artigo em Inglês, Espanhol | LILACS, BINACIS | ID: biblio-838135

RESUMO

El diagnóstico de tuberculosis en la infancia exige una fuerte presunción diagnóstica por su forma de presentación paucibacilar. Distintos sistemas de puntuación y algoritmos se han desarrollado para sortear esta dificultad. Entre ellos, la escala diagnóstica de Keith Edwards y la de Stegen modificada por Toledo (Stegen-Toledo). Objetivos. Comparar la capacidad predictiva de la escala diagnóstica de Keith Edwards con la de la escala de Stegen-Toledo. Estimar la capacidad predictiva diagnóstica de la radiografía de tórax en forma individual. Población, material y métodos. Pacientes atendidos en un Servicio de Neumonología Pediátrica de la Ciudad de Buenos Aires entre 2009 y 2012. Para el análisis de la capacidad predictiva diagnóstica, se utilizó el test de chi-cuadrado y, para comparar su desempeno, la prueba de Mc Nemar extendida. Resultados. Keith Edwards: sensibilidad de 19,62%, especificidad de 97,62% (p < 0,0001). Stegen-Toledo: sensibilidad de 43,54%, especificidad de 97,82% (p < 0,0001). La sensibilidad entre ambas escalas presentó una diferencia significativa (p < 0,05), sin diferencias en la especificidad. Radiografía de tórax: sensibilidad de 91,15%, especificidad de 87,72% (p < 0,0001). Conclusión. La escala de Keith Edwards presentó una menor sensibilidad diagnóstica que la de Stegen-Toledo en este grupo de pacientes, sin diferencias en la especificidad. La radiografía de tórax presentó una sensibilidad de 91,15% para el diagnóstico de tuberculosis en este grupo de pacientes.


Diagnosing childhood tuberculosis requires a strong diagnostic suspicion due to its paucibacillary manifestation. Different scoring systems and algorithms have been developed to deal with such challenge skillfully. These include the Keith Edwards diagnostic score and Stegen's criteria modified by Toledo (Stegen-Toledo). Objectives. To compare the predictive ability of the Keith Edwards diagnostic score to that of the Stegen-Toledo scoring system. To estimate the predictive diagnostic ability of chest X-rays individually. Population, Material and Methods. Patients seen at the Department of Pediatric Pulmonology of the City of Buenos Aires between 2009 and 2012. A² test was used to analyze the predictive diagnostic ability, and performance was compared using the extended McNemar test. Results. Keith Edwards: 19.62% sensitivity, 97.62% specificity (p < 0.0001). Stegen-Toledo: 43.54% sensitivity, 97.82% specificity (p < 0.0001). Sensitivity was significantly different between both scoring systems (p < 0.05), but no differences were observed in terms of specificity. Chest X-ray: 91.15% sensitivity, 87.72% specificity (p < 0.0001). Conclusion. The Keith Edwards scoring system showed a lower diagnostic sensitivity than the Stegen-Toledo score in this group of patients, with no differences observed in terms of specificity. The chest X-ray showed a 91.15% sensitivity to diagnose tuberculosis in this group of patients.


Assuntos
Humanos , Criança , Tuberculose Pulmonar/diagnóstico , Valor Preditivo dos Testes , Sensibilidade e Especificidade , Técnicas de Diagnóstico do Sistema Respiratório
15.
Arch Argent Pediatr ; 113(6): 491-7, 2015 12 01.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-26593793

RESUMO

UNLABELLED: Diagnosing childhood tuberculosis requires a strong diagnostic suspicion due to its paucibacillary manifestation. Different scoring systems and algorithms have been developed to deal with such challenge skillfully. These include the Keith Edwards diagnostic score and Stegen's criteria modified by Toledo (Stegen-Toledo). OBJECTIVES: To compare the predictive ability of the Keith Edwards diagnostic score to that of the Stegen-Toledo scoring system. To estimate the predictive diagnostic ability of chest X-rays individually. POPULATION, MATERIAL AND METHODS: Patients seen at the Department of Pediatric Pulmonology of the City of Buenos Aires between 2009 and 2012. A² test was used to analyze the predictive diagnostic ability, and performance was compared using the extended McNemar test. RESULTS: Keith Edwards: 19.62% sensitivity, 97.62% specificity (p < 0.0001). Stegen-Toledo: 43.54% sensitivity, 97.82% specificity (p < 0.0001). Sensitivity was significantly different between both scoring systems (p < 0.05), but no differences were observed in terms of specificity. Chest X-ray: 91.15% sensitivity, 87.72% specificity (p < 0.0001). CONCLUSION: The Keith Edwards scoring system showed a lower diagnostic sensitivity than the Stegen-Toledo score in this group of patients, with no differences observed in terms of specificity. The chest X-ray showed a 91.15% sensitivity to diagnose tuberculosis in this group of patients.


El diagnóstico de tuberculosis en la infancia exige una fuerte presunción diagnóstica por su forma de presentación paucibacilar. Distintos sistemas de puntuación y algoritmos se han desarrollado para sortear esta dificultad. Entre ellos, la escala diagnóstica de Keith Edwards y la de Stegen modificada por Toledo (Stegen-Toledo). Objetivos. Comparar la capacidad predictiva de la escala diagnóstica de Keith Edwards con la de la escala de Stegen-Toledo. Estimar la capacidad predictiva diagnóstica de la radiografía de tórax en forma individual. Población, material y métodos. Pacientes atendidos en un Servicio de Neumonología Pediátrica de la Ciudad de Buenos Aires entre 2009 y 2012. Para el análisis de la capacidad predictiva diagnóstica, se utilizó el test de chicuadrado y, para comparar su desempeño, la prueba de Mc Nemar extendida. Resultados. Keith Edwards: sensibilidad de 19,62%, especificidad de 97,62% (p < 0,0001). Stegen-Toledo: sensibilidad de 43,54%, especificidad de 97,82% (p < 0,0001). La sensibilidad entre ambas escalas presentó una diferencia significativa (p < 0,05), sin diferencias en la especificidad. Radiografía de tórax: sensibilidad de 91,15%, especificidad de 87,72% (p < 0,0001). Conclusión. La escala de Keith Edwards presentó una menor sensibilidad diagnóstica que la de Stegen-Toledo en este grupo de pacientes, sin diferencias en la especificidad. La radiografía de tórax presentó una sensibilidad de 91,15% para el diagnóstico de tuberculosis en este grupo de pacientes.


Assuntos
Técnicas de Diagnóstico do Sistema Respiratório , Tuberculose Pulmonar/diagnóstico , Criança , Humanos , Valor Preditivo dos Testes , Sensibilidade e Especificidade
16.
Arch. argent. pediatr ; 113(4): e230-e233, ago. 2015. ilus
Artigo em Espanhol | LILACS, BINACIS | ID: lil-757054

RESUMO

La tuberculosis faríngea es una manifestación extrapulmonar infrecuente. En Argentina, se notificaron 1752 pacientes enfermos de tuberculosis menores de 19 años en el año 2012. Solo 12,15% teman localización extrapulmonar. Se presenta el caso de una adolescente que consultó por odinofagia y fiebre intermitente de 6 meses de evolución, sin respuesta al tratamiento antibiótico convencional. La radiografía de tórax presentaba infiltrado micronodulillar bilateral, por lo que la paciente se internó para estudiar y tratar. El resultado del examen directo de esputo para bacilos ácido-alcohol resistentes fue positivo y se inició tratamiento con cuatro drogas antituberculosas, con buena evolución y desaparición de los síntomas. Se obtuvo confirmación diagnóstica con el aislamiento de la Mycobacterium tuberculosis del cultivo de esputo. La tuberculosis faríngea presenta como principal motivo de consulta odinofagia y dificultad en la deglución de larga evolución. Por ello, se resalta la importancia de descartar tuberculosis ante toda faringitis sin respuesta al tratamiento convencional.


Pharyngeal tuberculosis is a rare extrapulmonary manifestation. In Argentina, the number of cases of tuberculosis reported in children under 19 years in 2012 was 1752. Only 12.15% had extrapulmonary manifestation. A case of a 17 year old girl with pharyngeal tuberculosis is reported. The patient presented intermittent fever and swallowing pain for 6 months, without response to conventional antibiotic treatment. Chest X-ray showedbilateral micronodular infiltrate, so hospitalization was decided to study and treat. The sputum examination for acid-fast resistant bacilli was positive and treatment with four antituberculous drugs was started, with good evolution and disappearance of symptoms. Diagnostic confirmation with the isolation of Mycobacterium tuberculosis in sputum culture was obtained. The main symptoms of pharyngeal tuberculosis are sore throat and difficulty in swallowing of long evolution. It is important to consider tuberculosis as differential diagnosis in patients with chronic pharyngitis unresponsive to conventional treatment.


Assuntos
Humanos , Feminino , Adolescente , Tuberculose/diagnóstico , Doenças Faríngeas/diagnóstico , Faringite
17.
Arch. argent. pediatr ; 113(4): e230-e233, ago. 2015. ilus
Artigo em Espanhol | BINACIS | ID: bin-133991

RESUMO

La tuberculosis faríngea es una manifestación extrapulmonar infrecuente. En Argentina, se notificaron 1752 pacientes enfermos de tuberculosis menores de 19 años en el año 2012. Solo 12,15% teman localización extrapulmonar. Se presenta el caso de una adolescente que consultó por odinofagia y fiebre intermitente de 6 meses de evolución, sin respuesta al tratamiento antibiótico convencional. La radiografía de tórax presentaba infiltrado micronodulillar bilateral, por lo que la paciente se internó para estudiar y tratar. El resultado del examen directo de esputo para bacilos ácido-alcohol resistentes fue positivo y se inició tratamiento con cuatro drogas antituberculosas, con buena evolución y desaparición de los síntomas. Se obtuvo confirmación diagnóstica con el aislamiento de la Mycobacterium tuberculosis del cultivo de esputo. La tuberculosis faríngea presenta como principal motivo de consulta odinofagia y dificultad en la deglución de larga evolución. Por ello, se resalta la importancia de descartar tuberculosis ante toda faringitis sin respuesta al tratamiento convencional.(AU)


Pharyngeal tuberculosis is a rare extrapulmonary manifestation. In Argentina, the number of cases of tuberculosis reported in children under 19 years in 2012 was 1752. Only 12.15% had extrapulmonary manifestation. A case of a 17 year old girl with pharyngeal tuberculosis is reported. The patient presented intermittent fever and swallowing pain for 6 months, without response to conventional antibiotic treatment. Chest X-ray showedbilateral micronodular infiltrate, so hospitalization was decided to study and treat. The sputum examination for acid-fast resistant bacilli was positive and treatment with four antituberculous drugs was started, with good evolution and disappearance of symptoms. Diagnostic confirmation with the isolation of Mycobacterium tuberculosis in sputum culture was obtained. The main symptoms of pharyngeal tuberculosis are sore throat and difficulty in swallowing of long evolution. It is important to consider tuberculosis as differential diagnosis in patients with chronic pharyngitis unresponsive to conventional treatment.(AU)

18.
Arch Argent Pediatr ; 113(4): e230-3, 2015 Aug.
Artigo em Espanhol | MEDLINE | ID: mdl-26172025

RESUMO

Pharyngeal tuberculosis is a rare extrapulmonary manifestation. In Argentina, the number of cases of tuberculosis reported in children under 19 years in 2012 was 1752. Only 12.15% had extrapulmonary manifestation. A case of a 17 year old girl with pharyngeal tuberculosis is reported. The patient presented intermittent fever and swallowing pain for 6 months, without response to conventional antibiotic treatment. Chest X-ray showedbilateral micronodular infiltrate, so hospitalization was decided to study and treat. The sputum examination for acid-fast resistant bacilli was positive and treatment with four antituberculous drugs was started, with good evolution and disappearance of symptoms. Diagnostic confirmation with the isolation of Mycobacterium tuberculosis in sputum culture was obtained. The main symptoms of pharyngeal tuberculosis are sore throat and difficulty in swallowing of long evolution. It is important to consider tuberculosis as differential diagnosis in patients with chronic pharyngitis unresponsive to conventional treatment.


Assuntos
Doenças Faríngeas , Tuberculose , Adolescente , Feminino , Humanos , Doenças Faríngeas/diagnóstico , Tuberculose/diagnóstico
19.
Arch. argent. pediatr ; 112(6): e252-e256, dic. 2014. ilus
Artigo em Espanhol | LILACS, BINACIS | ID: lil-734315

RESUMO

La afectación del sistema nervioso central es una de las localizaciones extrapulmonares de la tuberculosis con peor pronóstico. El retraso en el diagnóstico y tratamiento es uno de los factores relacionados con mayor tasa de mortalidad y secuelas. Se describe la "reacción paradojal" como un deterioro sintomático de grado variable, durante el tratamiento efectivo de la tuberculosis. El aumento de la resistencia del Mycobacterium tuberculosis a fármacos observado en los últimos años genera mayor preocupación ante la aparición de una reacción paradojal durante el tratamiento. Se presenta el caso de un niño con meningitis tuberculosa que, luego de un mes de tratamiento, presentó empeoramiento clínico y nuevas lesiones en la tomografía y resonancia magnética nuclear de cerebro. Se excluyeron patologías asociadas, se verificó que la toma de medicamentos haya sido supervisada, y la sensibilidad del bacilo a fármacos antituberculosos de primera línea fue confirmada. El paciente no requirió cambios en el esquema de tratamiento antituberculoso y se administraron esteroides para el alivio sintomático. La reacción paradojal durante el tratamiento antituberculoso es infrecuente y debida a una reacción de hipersensibilidad entre el huésped y el bacilo tuberculoso. Cuando aparece, se debe asegurar la efectividad y el cumplimiento del tratamiento administrado.


The central nervous system is one of the locations of extrapulmonary tuberculosis with worse prognosis. The delay in diagnosis and treatment is one of the factors associated with higher mortality and sequelae. The "paradoxical reaction" is described as a variable degree of symptomatic deterioration during the effective treatment of tuberculosis. The increased resistance of Mycobacterium tuberculosis to drugs observed in recent years generates greater concern about the emergence of a paradoxical reaction during treatment. The case of a child with tuberculous meningitis that after one month of treatment presented clinical worsening and new lesions in CT and MRI images of the brain is presented. Comorbidities were excluded, it was verified that taking drugs has been monitored, and the sensitivity of the bacillus to first-line antituberculosis drugs was confirmed. The patient required no change in the pattern of tuberculosis treatment and steroids were administered for symptomatic relief. The paradoxical reaction during antituberculosis treatment is rare and due to a hypersensitivity reaction between the host and the tuberculous bacillus. When it appears you must ensure the effectiveness and compliance of the treatment.


Assuntos
Humanos , Criança , Tuberculose Meníngea , Criança , Tuberculose do Sistema Nervoso Central
20.
Arch. argent. pediatr ; 112(6): e252-e256, dic. 2014. ilus
Artigo em Espanhol | BINACIS | ID: bin-131512

RESUMO

La afectación del sistema nervioso central es una de las localizaciones extrapulmonares de la tuberculosis con peor pronóstico. El retraso en el diagnóstico y tratamiento es uno de los factores relacionados con mayor tasa de mortalidad y secuelas. Se describe la "reacción paradojal" como un deterioro sintomático de grado variable, durante el tratamiento efectivo de la tuberculosis. El aumento de la resistencia del Mycobacterium tuberculosis a fármacos observado en los últimos años genera mayor preocupación ante la aparición de una reacción paradojal durante el tratamiento. Se presenta el caso de un niño con meningitis tuberculosa que, luego de un mes de tratamiento, presentó empeoramiento clínico y nuevas lesiones en la tomografía y resonancia magnética nuclear de cerebro. Se excluyeron patologías asociadas, se verificó que la toma de medicamentos haya sido supervisada, y la sensibilidad del bacilo a fármacos antituberculosos de primera línea fue confirmada. El paciente no requirió cambios en el esquema de tratamiento antituberculoso y se administraron esteroides para el alivio sintomático. La reacción paradojal durante el tratamiento antituberculoso es infrecuente y debida a una reacción de hipersensibilidad entre el huésped y el bacilo tuberculoso. Cuando aparece, se debe asegurar la efectividad y el cumplimiento del tratamiento administrado.(AU)


The central nervous system is one of the locations of extrapulmonary tuberculosis with worse prognosis. The delay in diagnosis and treatment is one of the factors associated with higher mortality and sequelae. The "paradoxical reaction" is described as a variable degree of symptomatic deterioration during the effective treatment of tuberculosis. The increased resistance of Mycobacterium tuberculosis to drugs observed in recent years generates greater concern about the emergence of a paradoxical reaction during treatment. The case of a child with tuberculous meningitis that after one month of treatment presented clinical worsening and new lesions in CT and MRI images of the brain is presented. Comorbidities were excluded, it was verified that taking drugs has been monitored, and the sensitivity of the bacillus to first-line antituberculosis drugs was confirmed. The patient required no change in the pattern of tuberculosis treatment and steroids were administered for symptomatic relief. The paradoxical reaction during antituberculosis treatment is rare and due to a hypersensitivity reaction between the host and the tuberculous bacillus. When it appears you must ensure the effectiveness and compliance of the treatment.(AU)

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