Fenotipo grave en dos medio hermanas con síndrome de Adams Oliver / Severe phenotype in two half-sibs with Adams Oliver syndrome

El síndrome de Adams Oliver (AOS) es una entidad heterogénea con defecto transverso terminal de extremidades (TTLD) y aplasia cutis congénita (ACC) con un amplio espectro fenotípico. Se han descrito diferentes modos de herencia en esta enfermedad; los defectos más graves se han asociado a un patrón autosómico recesivo (AR). Objetivo. presentar a una familia con dos medio hermanas con un fenotipo grave de Adams Oliver, con una madre sana. Reporte del caso: una mujer de 27 años de edad fue referida al Departamento de Genética. Su hija anterior presentó acránea, anillos de constricción y defectos transversos terminales de extremidades. Su hija actual presentaba encefalocele occipital, defecto amplio en huesos del cráneo, aplasia cutis congénita, defecto terminal transverso de extremidades y labio y paladar hendido bilateral. Sugerimos que algunos casos con fenotipo grave del síndrome de Adams Oliver pueden deberse a herencia autosómico dominante con penetrancia incompleta o a la presencia de mosaicismo gonadal.

Adams Oliver syndrome (AOS) is a highly variable entity with terminal transverse limb defects (TTLD) and aplasia cutis congenita (ACC) with a wide phenotypic spectrum. Several inheritance models have been observed; the most severe phenotype has been related to an autosomal recessive (AR) pattern of inheritance. Objective. To present a family with two half siblings with a severe phenotype of Adams Oliver syndrome in which the mother was healthy. Case report: A 27 year-old woman was referred to the Genetics Department. Her previous girl presented acrania, constriction rings and terminal transverse limb defects. The present girl had occipital encephalocele, large scalp defects, aplasia cutis congenita, terminal transverse limb defects and bilateral cleft lip and palate. Autosomal dominant inheritance with reduced penetrance or gonadal mosaicism has to be considered in Adams Oliver syndrome with severe intracranial anomalies.

Reporting detection of Chlamydia trachomatis DNA in tissues of neonatal death cases / Relato de detecção de DNA de Chlamydia trachomatis em tecidos de casos de óbito neonatal

OBJECTIVE: to determine whether C. trachomatis was present in neonates with infection, but without an isolated pathogen, who died during the first week of life. METHODS: early neonatal death cases whose causes of death had been previously adjudicated by the institutional mortality committee were randomly selected. End-point and real-time polymerase chain reaction of the C. trachomatis omp1 gene was used to blindly identify the presence of chlamydial DNA in the paraffinized samples of five organs (from authorized autopsies) of each of the dead neonates. Additionally, differential diagnoses were conducted by amplifying a fragment of the 16S rRNA of Mycoplasma spp. RESULTS: in five cases (35.7%), C. trachomatis DNA was found in one or more organs. Severe neonatal infection was present in three cases; one of them corresponded to genotype D of C. trachomatis. Interestingly, another case fulfilled the same criteria but had a positive polymerase chain reaction for Mycoplasma hominis, a pathogen known to produce sepsis in newborns. CONCLUSION: the use of molecular biology techniques in these cases of early infant mortality demonstrated that C. trachomatis could play a role in the development of severe infection and in early neonatal death, similarly to that observed with Mycoplasma hominis. Further study is required to determine the pathogenesis of this perinatal infection. .

OBJETIVO: determinar se a C. trachomatis está presente em neonatos com infecção, porém sem patógeno isolado, que morreram durante a primeira semana de vida. MÉTODOS: casos de óbito neonatal precoce cujas causas de óbito haviam sido anteriormente determinadas pelo Comitê de Mortalidade da instituição foram aleatoriamente selecionados. Foram utilizadas as reações em cadeia da polimerase convencional e em tempo real do gene omp1 da C. trachomatis, para identificar, às cegas, a presença de DNA de clamídia nas amostras desparafinizadas de cinco órgãos (de autópsias autorizadas) de cada um dos neonatos mortos. Além disso, foram realizados diagnósticos diferenciais por amplificação de um fragmento do rRNA 16S de Mycoplasma ssp. RESULTADOS: em cinco casos (35,7%) a presença de DNA de C. trachomatis foi detectada em um ou mais órgãos. Havia infecção neonatal grave em três casos; um deles correspondente ao genótipo D de C. trachomatis. Curiosamente, outro caso preencheu os mesmos critérios, porém possuía uma reação em cadeia da polimerase positiva para Mycoplasma hominis, um patógeno conhecido por causar sepse em recém-nascidos. CONCLUSÃO: a utilização de técnicas de biologia molecular nos casos de mortalidade infantil precoce mostrou que a C. trachomatis poderia desempenhar um papel no desenvolvimento de infecção grave e no óbito neonatal precoce semelhante ao observado com a Mycoplasma hominis. São necessários estudos adicionais para determinar a patogênese dessa infecção perinatal. .

Mortalidad neonatal en 2007 y 2008 en un centro de tercer nivel de atención / Newborn mortality in 2007 and 2008 in a tertiary level care center

Introducción. La mortalidad neonatal es un indicador sensible y específico que nos permite conocer el estado de salud de un país y plantear estrategias para mejorarlo. Resulta de una cadena compleja de determinantes como los biológicos, los socioeconómicos y los de salud. El objetivo de este trabajo fue conocer la tasa de mortalidad neonatal general, por peso y edad gestacional, en un instituto de tercer nivel de atención durante 2007 y 2008. Métodos. Se analizaron todos los casos provenientes del comité de mortalidad perinatal y neonatal, de 2007 y 2008, desde 22 semanas de gestación en adelante. El análisis estadístico se realizó mediante medidas de tendencia central y dispersión para las variables cuantitativas y para las variables cualitativas frecuencia, porcentaje, χ² y razón de momios con nivel de significación estadística < 0.05. Resultados. La tasa de mortalidad para el año 2007 fue de 17.7 × 1000 nacidos vivos y para el 2008 de 19.7 × 1000 nacidos vivos. En relación con el peso y con la edad gestacional no se encontró aumento de riesgo al comparar los resultados de ambos años. Las malformaciones ocuparon el mayor porcentaje entre las causas de defunción. Conclusiones. Las tasas de mortalidad en 2007 y 2008 fueron de 17.7 y 19.7 × 1000 nacidos vivos, respectivamente. Las principales causas de defunción fueron las malformaciones cardiacas.

Background. Mortality is a sensitive and specific indicator for determining the health status of a country in order to implement improvement strategies. It is the result of biological, social, economic and health factors. The aim of this study was to determine neonatal general mortality and its relationship with weight and gestational age at a third-level health institution from 2007 to 2008. Methods. We analyzed all patients >22 weeks of gestational age from the perinatal mortality service. Statistical analysis was done using measures of central tendency and dispersion for quantitative variables and χ2, percentage and frequency for qualitative variables; odds ratios were calculated with significance level <0.05. Results. The mortality rate for 2007 was 17.7 per 1000 live births, and for 2008 it was 19.7 per 1000 live births. When we compared both years, we did not find an increased risk for weight and gestational age. Malformations occupied the largest causes of death. Conclusions. For years 2007 and 2008, mortality rates were 17.7 and 19.7 per 1000 live births, respectively, and the main cause of deaths were cardiac malformations.