ABSTRACT
We report a female newborn with a dystrophic epidermolysis bullosa. The diagnosis was made by electron microscopy of a bullous skin lesion. The importance of reaching a specific diagnosis is underscored. Close relatives can therefore be informed and educated about prognosis, etiology and the possibility of having new affected offspring. An accurate diagnosis can be reached through electronic microscopy or modern immunohistochemical techniques. Further complementary information given by conventional histology is required. A complete study is recommended to minimize errors in the intepretation of morphology.
Subject(s)
Epidermolysis Bullosa Dystrophica/pathology , Female , Humans , Infant, Newborn , Microscopy, ElectronABSTRACT
Um caso de campylobacteriose neonatal com enterite hemorrágica e bacteremia produzido por Campylobacter coli é apresentado. A mãe, proveniente de uma região rural, apresentou durante a gravidez, três episódios de diarréia autolimitada. A infeccão no recém nascido provavelmente foi adqüirida durante o parto. Os altos níveis séricos de immunoglobulinas específicas poderiam explicar a escassa sintomatologia, apesar da demorada prescricão do tratamento com gentamicina.
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Campylobacter coli , Enteritis , Hemorrhage , Infant, Newborn , Campylobacter Infections/diagnosis , Hemorrhagic Septicemia/diagnosis , Methods , SymptomatologyABSTRACT
We report a preterm infant with 30 weeks of gestation, that received broad spectrum antimicrobials during the first days of life. At nine days of life, the infant appeared with abdominal distension and hematochezia. A systolic murmur with changing auscultatory features also appeared. An echocardiography showed an atrial vegetation. A yeast, that was identified as the emergent pathogen Saccharomyces cerevisiae appeared in two blood cultures. Treatment with amphotericin B was started, the dose was adjusted calculating the minimal inhibitory concentration of amphotericin B, and measuring plasma levels of the antimicrobial. Therefore the minimal effective dose was prescribed, avoiding its deleterious effects. After 14 days of antifungal therapy, a new echocardiography showed a reduction in the size of the atrial vegetation. At 35 days, it disappeared and amphotericin B was discontinued. On the outpatient follow up, the infant has shown a normal growth and a normal cardiac auscultation.
Subject(s)
Endocarditis/microbiology , Infant, Premature, Diseases/microbiology , Mycoses/complications , Saccharomyces cerevisiae/isolation & purification , Amphotericin B/therapeutic use , Antifungal Agents/therapeutic use , Endocarditis/diagnosis , Endocarditis/drug therapy , Humans , Infant, Newborn , Infant, Premature , Infant, Premature, Diseases/diagnosis , Infant, Premature, Diseases/drug therapy , Male , Mycoses/drug therapyABSTRACT
Se presenta un caso de megalo uretra congénita, causa excepcional de genito macrosomía. Se discuten las principales características clínicas y el manejo urológico de la malformación a la luz de los conocimientos más actuales
Subject(s)
Infant, Newborn , Humans , Male , Urethra/abnormalities , Urethritis/diagnosisABSTRACT
Se describe un caso de enfermedad hemolítica por incompatibilidad del sistema Diego. Se revisan las características antigénicas y étnicas de este sistema sanguíneo de distribución restirngida, llamado también sistema "familiar" o "privado", en contraste con los sistemas "comunes" o "firmemente establecidos" como el ABO y Rh. Por último, se analiza la importancia de este factor en el estudio de las migraciones de las poblaciones precolombinas
Subject(s)
Infant, Newborn , Humans , Female , Erythroblastosis, Fetal/blood , Blood Group Antigens , Erythroblastosis, Fetal/geneticsABSTRACT
Se describen los principales hallazgos clínicos, citogenéticos y endocrinos de una niña portadora de una disgenesia gonadal y de una diabetes insulinodependiente. Esta situación contrasta con lo señalado en la literatura, en la que esta aberración cromosómica suele asociarse con diabetes de tipo adulto o con simples alteraciones de las pruebas de sobrecarga a la glucosa. Se discute el papel que pueden desempeñar las alteraciones inmunitarias en la génesis de ambos cuadros
