RESUMO
We report on a boy with short stature, mental retardation, seizures, follicular ichthyosis, generalized alopecia, hypohydrosis, enamel dysplasia, photophobia, congenital aganglionic megacolon, inguinal hernia, vertebral, renal and other anomalies, and a normal chromosome constitution. The clinical findings include all the features that dermotrichic and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome have in common and in addition those that characterize IFAP syndrome (photophobia, recurrent respiratory infections, etc.), those that are present only in dermotrichic syndrome (nail anomalies, hypohydrosis, megacolon, vertebral defects, etc.) and additional ones (enamel dysplasia, renal anomalies, inguinal hernia, etc.). Two maternal uncles were referred as being affected by alopecia and ichthyosis suggesting X-linked recessive transmission. Various hypotheses concerning the relationship between the 2 syndromes and the present case are discussed.
Assuntos
Alopecia/genética , Displasia Ectodérmica/genética , Ictiose Ligada ao Cromossomo X/genética , Pré-Escolar , Displasia Ectodérmica/patologia , Genes Recessivos , Ligação Genética , Humanos , Ictiose Ligada ao Cromossomo X/patologia , Deficiência Intelectual/genética , Luz , Masculino , Linhagem , Síndrome , Cromossomo XRESUMO
Epidemiological studies have demonstrated that cervical HPV infection and precancerous lesions of the cervix are more common in HIV-seropositive patients. However little is known about the natural history of these lesions in this population. In the present study cervical smears from 36 patients, 18 HIV-seropositive women and 18 matched controls were evaluated with the aim of quantifying morphological alterations and to evaluate DNA ploidy and HPV subtypes. Cervical lesions in HIV-seropositive patients were diploid in 50% of the cases compared to 25% in controls. The only HPVs identified by ISH were types 16/18 and no significant differences were observed in the control population. In contrast, cytological evidence of HPV infection and dysplastic changes was greatly increased in smears from HIV patients compared to HIV-seronegative women. Less than 5% of the cells showed HPV associated changes in controls while 10% to 30% of the cells were affected in HIV-patients. We suggest that the Papanicolaou test should be effective for detecting cervical disease and for a close follow-up of this population. Moreover, while additional studies with larger population groups and different population bases are needed, these findings are suggestive of the possible use of morphological criteria for the identification of HIV-seropositive subjects.
Assuntos
Colo do Útero/citologia , Soronegatividade para HIV , Soropositividade para HIV/patologia , Teste de Papanicolaou , Papillomaviridae/isolamento & purificação , Ploidias , Esfregaço Vaginal , Adulto , Aneuploidia , Colo do Útero/patologia , Colo do Útero/virologia , Diploide , Feminino , Soropositividade para HIV/genética , Soropositividade para HIV/virologia , Humanos , Papillomaviridae/classificação , Lesões Pré-Cancerosas/epidemiologia , Lesões Pré-Cancerosas/patologia , Sorotipagem , Neoplasias do Colo do Útero/epidemiologia , Neoplasias do Colo do Útero/patologiaRESUMO
The authors report their experience of echocardiography performed on a group of 736 pregnancies with specific risk-factors for congenital heart disease (CHD). The aim of the study was to evaluate the influence of specific risk-factors (established through the genetic counselling) in detecting fetal cardiac anomalies and diagnostic accuracy of extended fetal echocardiographic examination in high-risk pregnancies. Twenty-seven heart defects were observed (3.6%), of these 24 were detected at ultrasound. Specificity and sensitivity were 99% and 90% respectively. These results suggest the importance of an early detection of pregnancies at increased risk for CHD and confirm the good diagnostic accuracy of a multiple cardiac examination.
Assuntos
Cardiopatias Congênitas/diagnóstico por imagem , Complicações na Gravidez , Animais , Cricetinae , Ecocardiografia , Feminino , Coração Fetal/diagnóstico por imagem , Aconselhamento Genético , Cardiopatias Congênitas/classificação , Cardiopatias Congênitas/genética , Humanos , Recém-Nascido , Gravidez , Fatores de Risco , Ultrassonografia Pré-NatalRESUMO
Fetal hypoxemia is one of the most frequent causes of intrauterine growth retardation (IUGR). In chronic fetal hypoxia, peripheral blood flow and blood flow to the kidneys is reduced to maintain heart, brain and adrenal perfusion, the 'brain-sparing effect'. In kidneys the cells of the proximal tubules seem to be most sensitive to hypoxia caused by reduced blood flow. Damage to the cells of the proximal tubules can be easily diagnosed by urinary levels of N-acetyl-beta-D-glucosaminidase (NAG), an enzyme present in high concentrations in these cells. The aim of the present study was to define the levels of NAG in the amniotic fluid, to diagnose damage to the cells of the proximal renal tubules in fetuses, and to correlate them with a detectable brain-sparing effect. The study was conducted on a total of 55 pregnancies: 9 pregnancies were complicated by IUGR, and the remaining 46 normal pregnancies formed the control group. Higher levels of NAG were detected in the amniotic fluid from the IUGR-complicated pregnancies (p < 0.025). In particular, fetuses with IUGR had high levels of NAG in the amniotic fluid in 8 of 9 cases (+ 2 SD compared with controls), while 1 had normal concentrations. In the 8 cases with high concentrations of NAG in the amniotic fluid, velocimetric Doppler study documented a brain-sparing effect, which was not present in the 1 fetus with normal NAG levels. In conclusion, high levels of NAG in the amniotic fluid may identify in uterus fetuses with renal damage.(ABSTRACT TRUNCATED AT 250 WORDS)