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1.
Pediatr Dermatol ; 30(6): e221-2, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23534934

RESUMO

We report a child with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome due to a de novo c.1190G>A (p.R397Q) mutation in exon 11 of the forkhead domain of the FOXP3 gene. He had chronic dermatitis with an eczematous and ichthyosiform appearance and had an allogeneic bone marrow transplantation. IPEX syndrome is a rare, often fatal recessive disease caused by mutations in the FOXP3 gene on the X chromosome (Xp11.23-q13.3).


Assuntos
Doenças do Sistema Endócrino/diagnóstico , Doenças do Sistema Imunitário/diagnóstico , Dermatopatias/diagnóstico , Transplante de Medula Óssea , Pré-Escolar , Diabetes Mellitus Tipo 1/congênito , Diarreia , Doenças do Sistema Endócrino/imunologia , Doenças do Sistema Endócrino/terapia , Fatores de Transcrição Forkhead/genética , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/genética , Doenças Genéticas Ligadas ao Cromossomo X/terapia , Humanos , Doenças do Sistema Imunitário/genética , Doenças do Sistema Imunitário/terapia , Lactente , Recém-Nascido , Masculino , Dermatopatias/genética , Dermatopatias/terapia
2.
Clin Respir J ; 15(3): 320-328, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33112480

RESUMO

INTRODUCTION: Radial probe endobronchial ultrasound (RP-EBUS) is a modern technique for diagnosis of peripheral lung lesions. It is assumed that the addition of transbronchial cryobiopsy (TBCB) could increase the diagnostic value for RP-EBUS. OBJECTIVES: The main objectives were to evaluate the efficacy and safety of RP-EBUS-guided TBCB for diagnosis of peripheral lung lesions and comparing it with RP-EBUS-guided transbronchial forceps biopsy. METHODS: Sixty patients with peripheral lung diseases were divided into two groups. Group I included 45 patients who were eligible for TBCB and they subjected to forceps transbronchial biopsy (forceps TBB) and TBCB guided by RP-EBUS. Fifteen patients who were not eligible for TBCB were included in group II and they were subjected to forceps TBB and/or cytology retrieval procedures guided by RP-EBUS. RESULTS: In group I, forceps TBB had sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of; 67.5%, 100%, 100%, 18.8%, and 69.8%, respectively, while TBCB had sensitivity, specificity, PPV, NPV, and accuracy of 75%, 100%, 100%, 23.1%, and 76.7%, respectively. The sensitivity in group II was 80% and the overall results including both groups were sensitivity, specificity, PPV, NPV, and accuracy of 85.2%, 100%, 100%, 42.8%, and 86.7%, respectively. Regarding the complications, only one patient (1.7%) had significant bleeding. One patient (1.7%) had pneumothorax and another patient (1.7%) suffered from hypoxemia. CONCLUSIONS: RP-EBUS-guided TBCB is a safe and effective technique for diagnosis of peripheral lung lesions. TBCB has achieved higher diagnostic values and better quality of samples.


Assuntos
Broncoscopia , Neoplasias Pulmonares , Biópsia , Endossonografia , Humanos , Biópsia Guiada por Imagem , Pulmão/diagnóstico por imagem , Neoplasias Pulmonares/diagnóstico por imagem , Estudos Retrospectivos , Instrumentos Cirúrgicos , Ultrassonografia de Intervenção
3.
J Anal Toxicol ; 41(9): 760-764, 2017 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-28985315

RESUMO

Pantoprazole is a frequently prescribed proton pump inhibitor (PPI) commonly utilized in the management of gastrointestinal symptoms. Few substances have proved to cause a false-positive cannabinoid urine screen. However, a case of false-positive urine cannabinoid screen in a patient who received a pantoprazole dose has been recently published. The purpose of this study was to determine the potential cross-reactivity of pantoprazole in the cannabinoid immunoassays: Alere Triage® TOX Drug Screen, KIMS® Cannabinoids II and DRI® Cannabinoids Assay. Drug-free urine to which pantoprazole was added up to 12,000 µg/mL produced negative results in the DRI® Cannabinoids and KIMS® Cannabinoids II. Alere Triage® TOX Drug Screen assay gave positive results at pantoprazole concentrations higher than 1,000 µg/mL. Urine samples from 8 pediatric patients were collected at the beginning of their pantoprazole treatment. Alere Triage® TOX Drug Screen assay produced positive test results in all patient samples and KIMS® Cannabinoids II immunoassay produced positive test results in one patient sample. None patient sample gave a false-positive result when analyzed by the DRI® Cannabinoids Assay. Our findings demonstrate that some cannabinoids immunoassays are susceptible to cross-reaction errors resulting from the presence in urine of pantoprazole and the resulting metabolism of the parent drug. Clinicians should be aware of the possibility of false-positive results for cannabinoids after a pantoprazole treatment.


Assuntos
2-Piridinilmetilsulfinilbenzimidazóis/urina , Canabinoides/urina , Inibidores da Bomba de Prótons/urina , Detecção do Abuso de Substâncias , Reações Falso-Positivas , Humanos , Imunoensaio/métodos , Pantoprazol , Urinálise
5.
Rev. Hosp. Psiquiátr. La Habana ; 35(1): 37-41, ene.-jun. 1994.
Artigo em Espanhol | LILACS | ID: lil-168965

RESUMO

Se realiza un estudio sobre los factores de riesgo y caracteristicas del intento suicida en ninos y adolescentes, basado en los casos atendidos por esta causa entre el 1ro de enero de 1986 y el 30 de junio del mismo ano en la Clinica del Adolescente y aun grupo control pareado por edad y sexo. Se identificaron como factores de riesgo la edad entre 14 y 15 anos, la presencia de trastornos psiquiatricos, el que los padres no esten ni casados ni unidos, la tenencia de familiares en el extranjero, la presencia de conflictos en la familia, en la pareja y en la escuela, el exhibir una personalidad no equilibrada e inmadura, la presencia de reaccion depresiva o depresiva ansiosa. El sentimiento de abandono y soledad y las discusiones familiares fueron las causas mas frecuentes del intento. El metodo suicida mas frecuentemente empleado es la ingestion de psicofarmacos. La hora mas frecuente entre las 12:00 y las 18:00 horas y el lugar mas habitual, la vivienda


Assuntos
Fatores de Risco , Tentativa de Suicídio
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