RESUMEN
The genetic regulation of hemoglobin is complex and there are a number of genetic abnormalities that result in clinically important hemoglobin disorders. Here, we review the molecular pathophysiology of hemoglobin disorders and review both old and new methods of diagnosing these disorders. Timely diagnosis of hemoglobinopathies in infants is essential to coordinate optimal life-saving interventions, and accurate identification of carriers of deleterious mutations allows for genetic counseling and informed family planning. The initial laboratory workup of inherited disorders of hemoglobin should include a complete blood count (CBC) and peripheral blood smear, followed by carefully selected tests based on clinical suspicion and available methodology. We discuss the utility and limitations of the various methodologies to fractionate hemoglobin, including cellulose acetate and citrate agar hemoglobin electrophoresis, isoelectric focusing, high-resolution high-performance liquid chromatography, and capillary zone electrophoresis. Recognizing that most of the global burden of hemoglobin disorders exists in low- and middle-income countries, we review the increasingly available array of point-of-care-tests (POCT), which have an increasingly important role in expanding early diagnosis programs to address the global burden of sickle cell disease, including Sickle SCAN, HemoTypeSC, Gazelle Hb Variant, and Smart LifeLC. A comprehensive understanding of the molecular pathophysiology of hemoglobin and the globin genes, as well as a clear understanding of the utility and limitations of currently available diagnostic tests, is essential in reducing global disease burden.
Asunto(s)
Anemia de Células Falciformes , Hemoglobinopatías , Humanos , Hemoglobinopatías/diagnóstico , Hemoglobinopatías/genética , Hemoglobinas/genética , Anemia de Células Falciformes/genética , Focalización Isoeléctrica/métodosRESUMEN
Sebaceous adenocarcinoma is a rare adnexal tumor that can affect the skin and is divided into ocular, a more common form and extra ocular, of a rarer occurrence. We report the case of a patient diagnosed with Acquired Immune Deficiency Syndrome (AIDS) who developed an extra ocular, bulky and fast-growing sebaceous adenocarcinoma on the face. The literature has suggested that transplanted patients and HIV-positive patients have an excess risk for developing adnexal tumors, including sebaceous adenocarcinoma.
Adenocarcinoma sebáceo é um tumor anexial raro que pode envolver a pele e é dividido em ocular, mais comum e extraocular, mais raro. Relatamos o caso de um paciente com diagnóstico de Síndrome da Imunodeficiência Adquirida que desenvolveu um adenocarcinoma sebáceo extra-ocular, na face, volumoso, de rápido crescimento. A literatura tem sugerido que pacientes transplantados e portadores do vírus da imunodeficiência humana têm um excesso de risco para o desenvolvimento de tumores anexiais, incluindo o Adenocarcinoma sebáceo.
Asunto(s)
Adulto , Humanos , Masculino , Síndrome de Inmunodeficiencia Adquirida/complicaciones , Adenocarcinoma Sebáceo/patología , Neoplasias Faciales/patología , Neoplasias de las Glándulas Sebáceas/patología , Adenocarcinoma Sebáceo/etiología , Biopsia , Neoplasias Faciales/etiología , Inmunohistoquímica , Factores de Riesgo , Neoplasias de las Glándulas Sebáceas/etiologíaRESUMEN
Hepatitis C is an inflammatory disease of the liver caused by a single-stranded RNA virus belonging to the Hepacivirus genus in the Flaviviridae family, called the hepatitis C virus. After initial infection, 70% to 85% of the patients develop chronic hepatitis C with hepatic fibrosis. In addition to specific liver changes, various extrahepatic manifestations have been associated with the hepatitis C virus infection or with medications used to treat the condition. We report the case of a patient with chronic hepatitis C who presented with the signs and symptoms of borderline tuberculoid leprosy and type 1 reaction four months after the start of treatment with a pegylated interferon/ribavirin combination.
A hepatite C é uma doença inflamatória fígado causada por um vírus RNA de fita simples, pertencente ao gênero Hepacivirus e à família Flaviviridae, denominado de vírus da hepatite C. Após infecção inicial 70 a 85% dos pacientes infectados evoluem para hepatite C crônica, com fibrose progressiva. Além das alterações hepáticas específicas, várias manifestações extra-hepáticas têm sido relacionadas à infecção pelo vírus da hepatite C ou às medicações utilizadas no seu tratamento. Nesse trabalho, apresenta-se caso de paciente portador de hepatite C crônica, que manifestou um quadro hanseníase boderline tuberculóide e reação hansênica do tipo I, quatro meses após início do tratamento com interferon peguilado associado à ribavirina.
Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Antivirales/efectos adversos , Hepatitis C/tratamiento farmacológico , Interferones/efectos adversos , Lepra Dimorfa/inducido químicamente , Lepra Tuberculoide/inducido químicamente , Ribavirina/efectos adversos , Reacción de Fase Aguda/inducido químicamente , Quimioterapia Combinada/efectos adversos , Hepatitis C/complicaciones , Lepra Dimorfa/patología , Lepra Tuberculoide/patologíaRESUMEN
Relatamos o caso de uma mulher de 65 anos de idade, com queixa de cefaleia, portadora de uma lesão expansiva em região posterior da tenda do cerebelo, implantado na tórcula, sugestivo de meningioma pelos exames de imagens, foi submetida ao tratamento neurocirúrgico para ressecção. Ao exame anatomopatológico, foi sugerido diagnóstico de doença de Rosai-Dorfman, confirmado pela imunohistoquímica. Trata-se de uma rara linfadenopatia proliferativa histiocítica, de comportamento benigno, com acometimento mais frequente da cadeia linfonodal cervical e outros sítios extranodais, sendo extremamente rara sua localização no sistema nervoso central, principalmente na fossa posterior, sem acometimento de outras estruturas anatômicas.
We report the case of a woman 65 years old, complaining of headache, carries a lesion in the posterior region of the tent of the cerebellum, implanted in torcula, suggestive of meningioma by imaging tests, was subjected to neurosurgical procedures for resection. When pathological examination suggested a diagnosis of Rosai-Dorfman disease, confirmed by immunohistochemistry. It is a rare proliferative histiocytic lymphadenopathy in benign behavior, with more frequent involvement of cervical lymph node and other extranodal sites, its location is extremely rare in the central nervous system, especially in the posterior fossa without involvement of other anatomical structures.