ABSTRACT
El Síndrome de Waardenburg es un cuadro con herencia autosómica dominante y expresión clínica variable, poco frecuente en la población general, pero que en algunas series se ha involucrado en hasta un 2 por ciento de las hipoacusias congénitas severas. En estos pacientes se aprecian, además de la hipoacusia, diversos rasgos dismórficos, distinguiéndose cuatro tipos del síndrome, en función de la presencia o ausencia de distopia cantorum, malformaciones esqueléticas y enfermedad de Hirchsprung. Se han descrito diversas alteraciones genéticas frecuentes en cada uno de los tipos de esta enfermedad. Presentamos dos familias, con un total de 21 pacientes, siete de ellos en edad pediátrica afectos de esta enfermedad. En conclusión, hay que destacar la importancia del conocimiento de los distintos rasgos dismórficos de este síndrome, que nos pueden llevar a la detección precoz de una posible hipoacusia de percepción que permita la instauración de terapias enfocadas a una adquisición del lenguaje lo más óptima posible en estos pacientes (AU)
Subject(s)
Adolescent , Female , Child, Preschool , Male , Child , Humans , Waardenburg Syndrome/genetics , Waardenburg Syndrome/diagnosis , Pedigree , Hearing Loss/genetics , Hearing Loss/diagnosisSubject(s)
Sepsis/diagnosis , Streptococcal Infections/diagnosis , Streptococcus agalactiae , Female , Humans , Infant, Newborn , Recurrence , Time FactorsSubject(s)
Angiostrongylus cantonensis , Encephalomyelitis/etiology , Lung Diseases, Fungal/etiology , Meningoencephalitis/etiology , Strongylida Infections/complications , Animals , Brain/pathology , Encephalomyelitis/diagnosis , Encephalomyelitis/pathology , Fatal Outcome , Female , Humans , Infant , Lung/pathology , Lung Diseases, Fungal/diagnosis , Lung Diseases, Fungal/pathology , Meningoencephalitis/diagnosis , Meningoencephalitis/pathology , Strongylida Infections/diagnosis , Strongylida Infections/pathologyABSTRACT
OBJECTIVE: The objectives of this study were to know the prevalence of hepatitis C virus (HCV) in a population of pregnant women, to evaluate the vertical transmission rates of HCV in a prospective study and to determine the repercussions and consequences in children born to infected mothers. PATIENTS AND METHODS: A total of 6556 pregnant women were tested for HCV antibodies from January 1993 to August 1995. We followed 50 babies born to infected mothers for at least 12 months (mean 15 months). Serological assays employed included a screening ELISA II confirmed with immunoblot. Viral detection was performed by qualitative and quantitative PCR for HCV-RNA. RESULTS: Fifty-nine pregnant women were AcHCV(+). This represents a seroprevalence of 0.9%. Of the 50 babies followed, 6 were PCR(+) and 44 were PCR(-). The risk of transmission is correlated with the titer of HCV-RNA in the mother. All mothers of infected babies were HIV (-). CONCLUSIONS: The rate of prevalence in our pregnant women population is 0.9%. We found a vertical transmission rate of 12%. The high serum HCV-RNA titers in the mothers are a risk factor of transmission of HCV. The viremia in the children does not predict the apparition of the clinical disease, although they can exhibit intermittent increases of transaminases.
Subject(s)
Hepatitis C/transmission , Infectious Disease Transmission, Vertical , Female , Hepatitis C/diagnosis , Hepatitis C/epidemiology , Humans , Infant , Infant, Newborn , Milk, Human/virology , Pregnancy , Prevalence , Prospective StudiesSubject(s)
Incontinentia Pigmenti/diagnosis , Female , Humans , Incontinentia Pigmenti/pathology , Infant, NewbornSubject(s)
Ectromelia/genetics , Ectromelia/etiology , Female , Fetal Death , Humans , Infant, Newborn , Male , Pregnancy , Pregnancy in DiabeticsSubject(s)
Adenomatous Polyposis Coli/genetics , Brain Neoplasms/genetics , Cerebral Cortex , Glioblastoma/genetics , Adolescent , Child , Female , Humans , Male , Spain , SyndromeSubject(s)
Pupil , Adolescent , Female , Humans , Iris Diseases/epidemiology , Iris Diseases/physiopathology , SpainABSTRACT
A study has been made of 79 children from zero to seven years of age admitted to hospital with fever of unknown origin (F.U.O.) of more than two weeks duration. Children in whom fever was not clinically observed after one week of hospitalization are not included. In 50 cases (63.2%), it was possible to establish a definitive diagnosis within the first fornight of admission. The most frequent cause of fever was that of infection, found in 51 children (64.5%), tuberculosis and urinary infections predominating with ten cases each. In another ten children neoplastic disease was diagnosed (mostly leucosis), and there was colagenosis in seven cases (8.8%). In another seven children, the etiology was not established. Mortality rate was 7.5%. Clinical history and exploration were of main importance in the orientation of the diagnoses. The findings of this study suggest that in all children presenting F.U.O., apart from hospitalization of at least one week, a very thorough anamnesis and clinical exploration are most important in establishing the diagnosis, along with a more or less aggressive approach to the problem according to the findings.
