RESUMO
We have developed a relational laboratory database system, adapted to the daily book-keeping needs of laboratories that must keep track of information acquired on hundreds or thousands of clones in an effective and user-friendly fashion. Data, whether final or related to experiments in progress, can be accessed in many different ways, e.g. by clone name, by gene, by experiment or through DNA sequence. Updating, import and export of results is made easier by specially developed tools. This system, in network version, serves several groups in our Institute and (over the Internet) elsewhere, and is instrumental in collaborative studies based on expression profiling. It can be used in many similar situations involving progressiveaccumulation of information on sets of clones or related objects.
Assuntos
Sistemas de Gerenciamento de Base de Dados , Bases de Dados Factuais , Biologia Molecular/métodos , Genoma , Laboratórios , Pesquisadores , UniversidadesRESUMO
We report on 2 women who were treated with retinoids (Roaccutan, isotretinoin) during the first trimester of their pregnancies. Therapeutic abortions were carried out. The interest in these case reports lies in the determination of concentration of isotretinoin and its metabolites (4-oxo-isotretinoin, and tretinoin) in foetal tissues, using high performance liquid chromatography. The findings show the significant transplacental passage of isotretinoin, an accumulation of 4-oxo-isotretinoin in the liver, and a low concentration of retinoids in the brain of these foetuses. Contraception must be used with retinoid treatment and for 4 weeks after retinoid withdrawal.
Assuntos
Feto/química , Isotretinoína/metabolismo , Troca Materno-Fetal , Gravidez/sangue , Teratogênicos/metabolismo , Aborto Terapêutico , Adulto , Encéfalo/metabolismo , Feminino , Humanos , Isotretinoína/efeitos adversos , Fígado/metabolismo , Taxa de Depuração Metabólica , Primeiro Trimestre da GravidezRESUMO
An enquiry into sudden infant death syndrome (SIDS) in 1987 furnished us with detailed epidemiological data for 281 cases that underwent a thorough post-mortem examination. This analysis uses these data to evaluate the role the autopsy plays in explaining sudden death. The cases were classified into three diagnostic groups: explained causes of death (group 1), unexplained deaths with anomalies (group 2), and no anomaly (group 3). These 281 cases show the three essential features that characterize SIDS: over-representation of males, increased deaths during the second and third months of life, and increased deaths during winter. The autopsy examination revealed that many of these deaths had a medical explanation. Almost half were assigned to group 1. At the time of autopsy, no precise pathology could be diagnosed for 147 deaths; of these, 140 showed histological anomalies. There were only seven sudden deaths for which no abnormal sign was evident at the autopsy. These results are compared with those of similar studies and discussed in connection with three factors: the initial selection of cases, the nature and degree of the investigations, and the possible interpretations of the symptoms uncovered.
Assuntos
Morte Súbita do Lactente/patologia , Autopsia , Causas de Morte , Estudos Transversais , Atestado de Óbito , Feminino , França/epidemiologia , Humanos , Incidência , Lactente , Masculino , Estações do Ano , Morte Súbita do Lactente/epidemiologiaRESUMO
The authors report the case of a women who took retinoids (Roaccutan, isotretinoin) during the first trimester of pregnancy, and a therapeutic abortion was carried out. The interest in this case report lies in the determination of the concentration of isotretinoin and its metabolites (4-oxo-isotretinoin, and tretinoin) in fetal tissues, using high performance liquid chromatography. The findings show the significant transplacental crossing of isotretinoin, an accumulation of 4-oxo-isotretinoin in the liver, and a low concentration of retinoids in the brain of this 4-month-old fetus. The authors emphasize that contraception must be used during retinoid treatment, and 4 weeks after retinoids have been stopped.
Assuntos
Feto/metabolismo , Isotretinoína/farmacocinética , Troca Materno-Fetal , Aborto Terapêutico , Acne Vulgar/tratamento farmacológico , Encéfalo/metabolismo , Feminino , Humanos , Isotretinoína/efeitos adversos , Isotretinoína/uso terapêutico , Fígado/metabolismo , GravidezRESUMO
The first case of prenatal diagnosis of congenital varicella by amniotic fluid viral culture and PCR is reported. Chickenpox is a benign disease in children, but it can lead to severe complications in the adult, especially in the pregnant woman. Five percent of women in childbearing age are not immunised, and the incidence of gestational chickenpox is between 1 and 7 per 10,000. The consequences of this primary infection during pregnancy can be severe for the mother, because of the risk of serious varicella pneumonia, and for the fetus. The fetal infection depends on the gestational age at which the maternal infection occurs. The 2% evaluated risk of fetopathy is maximal between the 7th and 20th week of amenorrhoea. The reported congenital abnormalities are essentially cutaneous, neurological, ophthalmological and musculo-squeletal lesions. A prenatal diagnosis can be suggested: the revelation of defects by ultrasound scan confirms the fetal affection, and can justify pregnancy termination; on the other hand, amniocentesis and cordocentesis are not totally safe, and cannot always assert the fetal contamination or its level of affection. From the therapeutical point of view, prevention with polyvalent gamma-globulin is prescribed to non-immunised pregnant women who have been in contact with the virus. On the opposite, in case of contracted chickenpox, the treatment of the mother with an association of polyvalent gamma-globulin and acyclovir is still controversial since, although probably effective, it may not be safe for the fetus. The solution may reside in the vaccination, soon available, of non-immunised women in childbearing age.
Assuntos
Amniocentese/métodos , Varicela/diagnóstico , Doenças Fetais/diagnóstico , Aciclovir/uso terapêutico , Adulto , Líquido Amniótico/virologia , Antivirais/uso terapêutico , Varicela/congênito , Varicela/terapia , Feminino , Doenças Fetais/terapia , Humanos , Incidência , Reação em Cadeia da Polimerase , Gravidez , Segundo Trimestre da Gravidez , gama-Globulinas/uso terapêuticoRESUMO
Three fetuses with normal chromosomes were found to have uni- or bilateral hydronephrosis during the third trimester of pregnancy. At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. Genital abnormalities were present in 2 cases. Skeletal radiographs showed delayed bone maturation, broad and dense ribs, and a wide synchondrosis between the exoccipital and supraoccipital bones. The combination of such findings suggested the diagnosis of Schinzel-Giedion syndrome. Two patients died soon after birth, whereas the third one developed severe mental and motor retardation with seizures and spasticity, and died at 18 months. Schinzel-Giedion syndrome is rare and likely to be inherited as an autosomal recessive trait. So far, 13 well-documented cases have been reported allowing major and minor traits of the syndrome to be distinguished. Since no genetic marker is available, the prenatal diagnosis of Schinzel-Giedion syndrome relies on ultrasound examination, especially detection of renal abnormalities.
Assuntos
Anormalidades Múltiplas , Osso e Ossos/anormalidades , Face/anormalidades , Genitália/anormalidades , Hidronefrose/congênito , Feminino , Humanos , Recém-Nascido , Masculino , SíndromeAssuntos
Morte Fetal/patologia , Feto/patologia , Autopsia , Feminino , Morte Fetal/diagnóstico , Humanos , Cariotipagem , Placenta/patologia , Gravidez , Diagnóstico Pré-NatalRESUMO
Three fetuses with TAR (thrombocytopenia with absent radii) or TAR variant syndrome were found to be thrombocytopenic during the third trimester of the pregnancy. These findings indicate that fetal blood sampling, besides ultrasonography, skeletal radiographs, or even fetoscopy, may indeed contribute to the prenatal diagnosis of TAR syndrome, and thus may help in differentiating TAR syndrome from other syndromes with malformations of the upper limbs.
Assuntos
Anormalidades Múltiplas/diagnóstico , Doenças Fetais/diagnóstico , Diagnóstico Pré-Natal/métodos , Rádio (Anatomia)/anormalidades , Trombocitopenia/diagnóstico , Adulto , Feminino , Humanos , Gravidez , Terceiro Trimestre da Gravidez , SíndromeAssuntos
Varicela/diagnóstico , Aborto Terapêutico , Adulto , Amniocentese , Líquido Amniótico/microbiologia , Varicela/congênito , Feminino , Sangue Fetal/imunologia , Humanos , Pulmão/anormalidades , Atrofia Muscular/diagnóstico por imagem , Reação em Cadeia da Polimerase , Gravidez , Segundo Trimestre da Gravidez , UltrassonografiaRESUMO
A 59-year-old woman hospitalised because of dyspnea and a heart murmur in a context of pyrexia was found to have evidence of obstruction of the pulmonary arterial system, clearly defined by ultrasonography, catheterisation and angiography and Imatron scan. The particular feature of this fifth reported case of pulmonary artery leiomyosarcoma is its documentation by transesophageal ultrasonography and tumor biopsy during catheterisation. Surgery with partial excision of the tumor was followed by survival for 6 months, bearing in mind the absence of chemo- or radiosensitivity of this type of tumor. Cases from the literature are reviewed.
Assuntos
Leiomiossarcoma/diagnóstico , Artéria Pulmonar , Angiografia , Feminino , Humanos , Leiomiossarcoma/cirurgia , Pessoa de Meia-Idade , Prognóstico , Tomografia Computadorizada por Raios XRESUMO
PATIENTS AND METHODS: All cases of sudden and unexpected death occurring in maternity were studied over a period of 6 years (1985-1991). Anamnestic data, results of clinical examination of the body and findings of bacterial screening of body fluids or tissues were collected. The results at necropsy were also collected following the protocol used, with parental consent, in all cases of sudden infant death syndrome. RESULTS: There were 31 cases of sudden and unexpected death. Of these, 48% occurred before the 24th hour of life, 68% before the 36th hour and 84% before the 72nd hour. The majority of death occurred at night (55% between midnight and 6 AM, 90% between 9 PM and 9 AM). Analysis of the data provided a precise cause of death in 25 cases (81%), and a probable cause in 4 cases (13%). The major causes were perinatal anoxia, generally associated with massive amniotic inhalation (16 cases), and maternal-fetal infection (9 cases). No cause was found in 2 cases. Despite the fact that the death occurred unexpectedly, half of the newborns showed warning signs, some hours before the event. These signs were either not detected or ignored. CONCLUSION: The incidence of sudden death in neonates is 0.15 to 0.36/1,000 live births. Its causes are generally correlated with common neonatal diseases. Its occurrence at night and the existence of warning signs raise questions concerning the care of neonates in maternity.
Assuntos
Maternidades/estatística & dados numéricos , Complicações Infecciosas na Gravidez , Morte Súbita do Lactente/patologia , Líquido Amniótico , Feminino , Hipóxia Fetal/complicações , Humanos , Recém-Nascido , Masculino , Troca Materno-Fetal , Pneumonia Aspirativa/complicações , Gravidez , Morte Súbita do Lactente/epidemiologia , Morte Súbita do Lactente/etiologiaRESUMO
We report on a case of dup(16p) and review previous cases. The triplicated chromosome region leading to this specific syndrome lies in 16p13.1 p13.3. Most of the cases are inherited and the mode of segregation was found to be 3:1 in half of the cases, but these observations might be due to biases. The other chromosomes involved in the translocations as well as the breakpoints in these chromosomes do not appear to be random.
Assuntos
Cromossomos Humanos Par 16 , Translocação Genética/genética , Trissomia , Anormalidades Múltiplas/genética , Cromossomos Humanos Par 21 , Feminino , Humanos , Recém-NascidoRESUMO
Combined intra-uterine and ectopic gestations are uncommon. Heterotopic gestations in which the ectopic pregnancy is located in the ovary are exceptional. We are reporting a 22 week heterotopic gestation with two live fetuses, one fetus was developing in the uterus and one in the ovary. Surgical excision of the ovarian pregnancy was conducted without disturbing the intra-uterine live fetus who was ultimately delivered uneventfully at term.
Assuntos
Gravidez Ectópica , Gravidez , Adulto , Feminino , Humanos , Ovário , Segundo Trimestre da GravidezRESUMO
Forty-nine placentae from HIV-seropositive mothers were collected in various hospitals in France and Belgium. Twenty [corrected] placentae with seven fetuses from interrupted pregnancies and 29 [corrected] placentae from spontaneous deliveries, including two stillborns and a set of twins, were studied morphologically. No significant abnormalities were observed in the aborted material. The placentae corresponding to deliveries presented no significant gross abnormalities but the ratio of fetal to placental weight was significantly decreased in the study group compared with the control group (6.13 versus 7.41; P less than 0.001), associated with a congestive and mature aspect of the parenchyma. Histologically a high incidence of chorioamnionitis (43 per cent) was found, contrasting with the absence of villitis. A relative villous hypercellularity was observed in the study group compared with the control group. Ultrastructural studies of 13 placentae corresponding to gestations of 10 to 40 weeks are presented. In six cases, retrovirus-like particles were found at various sites, such as villous fibroblasts, syncytiotrophoblast and endothelial cells, and in the free membranes.
Assuntos
Síndrome da Imunodeficiência Adquirida/patologia , Placenta/patologia , Complicações Infecciosas na Gravidez/patologia , Aborto Induzido , Adulto , Parto Obstétrico , Feminino , Soropositividade para HIV/congênito , Soropositividade para HIV/patologia , Humanos , Microscopia Eletrônica , Placenta/ultraestrutura , GravidezRESUMO
A proper organization has been set up at Antoine-Béclère's hospital in order to study the infants who died suddenly. Between July 1985 and July 1987, 69 cases (10 babies less than 1 week of age) were admitted. The purpose of this work was, for the 59 sudden deaths of infants aged more than 1 week (35 males, 24 females), to present the results of a definite protocol of investigation (past history, clinical examination, laboratory and pathological data) for determining either the etiology or the mechanism of these deaths. A thorough investigation was performed in 45/52 cases (no autopsy in 7 cases). A definite diagnosis was possible in 38/45: 13 viral infections, 5 gastro-esophageal reflux, 13 viral infections associated with reflux, 9 with an additional event (massive alimentary inhalation, slipping under blankets, major hyperthermia) to either a viral infection or a reflux, 1 cardiac malformation, 1 metabolic disorder, 2 accidents and 1 infanticide. With this protocol, 7/45 deaths remained unexplained. This medical approach of the problem of sudden deaths in infants is beneficial to the counselling of the parents and to the management of subsequent children.
Assuntos
Morte Súbita do Lactente , Autopsia , Coleta de Dados , Dieta/efeitos adversos , Esofagite Péptica/complicações , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Doenças Metabólicas/complicações , Morte Súbita do Lactente/etiologia , Morte Súbita do Lactente/patologia , Viroses/complicaçõesRESUMO
We report eight cases of a lethal association of failure to thrive, facial dysmorphism, ambiguous genitalia, syndactyly, postaxial polydactyly, and internal developmental anomalies (Hirschsprung's disease, cardiac and renal malformation). This syndrome is likely to be autosomal recessive and resembles Smith-Lemli-Opitz (SLO) syndrome. However, the lethality, the common occurrence of polydactyly, and the sexual ambiguity distinguishes this condition from SLO syndrome. A review of published reports supports the separate classification of this syndrome for which we propose the name lethal acrodysgenital dwarfism.
Assuntos
Anormalidades Múltiplas/patologia , Nanismo/patologia , Genitália/anormalidades , Sindactilia/patologia , Anormalidades Múltiplas/classificação , Transtornos do Desenvolvimento Sexual/patologia , Insuficiência de Crescimento/patologia , Feminino , Genes Recessivos , Humanos , Masculino , SíndromeRESUMO
A case of primary leiomyosarcoma of the ovary in a 35-year-old woman is presented. The tumor was investigated histologically and by histochemistry. Desmin was demonstrated in neoplastic cells. Pertinent literature is reviewed and histogenesis is discussed.