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1.
J Cell Mol Med ; 27(9): 1206-1213, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-37002651

RESUMO

Preeclampsia (PE) occurs annually in 8% of pregnancies. Patients without risk factors represent 10% of these. There are currently no first-trimester biochemical markers that accurately predict PE. An increase in serum 60- and 70-KDa extracellular heat shock proteins (eHsp) has been shown in patients who developed PE at 34 weeks. We sought to determine whether there is a relationship between first-trimester eHsp and the development of PE. This was a prospective cohort study performed at a third level hospital in Mexico City from 2019 to 2020. eHsp levels were measured during the first-trimester ultrasound in singleton pregnancies with no comorbidities. First-trimester eHsp levels and biochemical parameters of organ dysfunction were compared between patients who developed preeclampsia and those who did not. All statistical analyses and model of correlation (r) between eHsp and clinical parameter were performed using bootstrapping R-software. p-values <0.05 were considered significant. The final analysis included 41 patients. PE occurred in 11 cases. eHsp-60 and eHsp-70 were significantly higher at 12 weeks in patients who developed PE (p = 0.001), while eHsp-27 was significantly lower (p = 0.004). Significant differences in first-trimester eHsp concentration suggest that these are possible early biomarkers useful for the prediction of PE.


Assuntos
Pré-Eclâmpsia , Gravidez , Feminino , Humanos , Pré-Eclâmpsia/diagnóstico , Proteínas de Choque Térmico , Estudos Prospectivos , Primeiro Trimestre da Gravidez , Fatores de Risco , Biomarcadores , Proteínas de Choque Térmico HSP70
2.
J Perinat Med ; 50(6): 786-795, 2022 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-35377975

RESUMO

OBJECTIVES: To analyze the role of viral infections as etiology of stillbirths in Mexico and their epidemiological impact in the context of the global Every Newborn Initiative. METHODS: A comprehensive literature search was performed in electronic databases related to stillbirth and viral infections published prior to January 19th 2021. Stillbirths records and causes from National Mexican databases, during 2008-2019 period were also computed. RESULTS: Only two articles with a direct relationship between viral infection and stillbirth were found, and one article with an indirect serological association was identified. During the analyzed period there were 198,076 stillbirths, with a National stillbirth rate (SBR) ranging from 6.9 to 6.5 between 2008 and 2014, with a subsequent increase to reach 7.7 in 2019. Only 19 cases were attributed to viral causes and a specific virus was identified in 11. The main causes of early stillbirth were a fetus with premature rupture of membranes and light for gestational age, and for late stillbirth these were fetus affected by oligohydramnios and slow fetal growth. The percentage classified as unspecified deaths varied from 34.4-41.9%. CONCLUSIONS: In Mexico, there has been an increase in SBR during last years, but the goals of the Every Newborn Initiative is met. More than 14,500 stillbirths with at least 5,100 unspecified cases have been reported per year, and only 11 cases were attributable to a specific virus, highlighting the serious underestimation of cases and the need of implementation of routine viral diagnosis methods to improve the care of this global health problem.


Assuntos
Natimorto , Viroses , Feminino , Idade Gestacional , Saúde Global , Humanos , Recém-Nascido , México/epidemiologia , Gravidez , Natimorto/epidemiologia , Viroses/complicações , Viroses/epidemiologia
3.
Int J Mol Sci ; 23(6)2022 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-35328414

RESUMO

An infectious process into the uterine cavity represents a major endangered condition that compromises the immune privilege of the maternal-fetal unit and increases the risk for preterm birth (PTB) and premature rupture of membranes (PROM). Fetal membranes are active secretors of antimicrobial peptides (AMP), which limit bacterial growth, such as Escherichia coli. Nevertheless, the antibacterial responses displayed by chorioamniotic membranes against a choriodecidual E. coli infection have been briefly studied. The objective of this research was to characterize the profile of synthesis, activity, and spatial distribution of a broad panel of AMPs produced by fetal membranes in response to E. coli choriodecidual infection. Term human chorioamniotic membranes were mounted in a two independent compartment model in which the choriodecidual region was infected with live E. coli (1 × 105 CFU/mL). Amnion and choriodecidual AMP tissue levels and TNF-α and IL-1ß secretion were measured by the enzyme-linked immunosorbent assay. The passage of bacterium through fetal membranes and their effect on structural continuity was followed for 24 h. Our results showed that E. coli infection caused a progressive mechanical disruption of the chorioamniotic membranes and an activated inflammatory environment. After the challenge, the amnion quickly (2-4 h) induced production of human beta defensins (HBD)-1, HBD-2, and LL-37. Afterwards (8-24 h), the amnion significantly produced HBD-1, HBD-2, HNP-1-3, S100A7, sPLA2, and elafin, whereas the choriodecidua induced LL-37 synthesis. Therefore, we noticed a temporal- and tissue-specific pattern regulation of the synthesis of AMPs by infected fetal membranes. However, fetal membranes were not able to contain the collagen degradation or the bacterial growth and migration despite the battery of produced AMPs, which deeply increases the risk for PTB and PROM. The mixture of recombinant HBDs at low concentrations resulted in increased bactericidal activity compared to each HBD alone in vitro, encouraging further research to study AMP combinations that may offer synergy to control drug-resistant infections in the perinatal period.


Assuntos
Infecções por Escherichia coli , Nascimento Prematuro , beta-Defensinas , Feminino , Humanos , Recém-Nascido , Gravidez , beta-Defensinas/metabolismo , Escherichia coli/metabolismo , Infecções por Escherichia coli/metabolismo , Membranas Extraembrionárias/metabolismo , Imunidade Inata , Nascimento Prematuro/metabolismo
4.
J Med Virol ; 93(7): 4480-4487, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33764543

RESUMO

To date, mother-to-fetus transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), responsible for the coronavirus disease 2019 (COVID-19) pandemic, remains controversial. Although placental COVID-19 infection has been documented in some cases during the second- and third-trimesters, no reports are available for the first trimester of pregnancy, and no SARS-CoV-2 protein has been found in fetal tissues. We studied the placenta and fetal organs from an early pregnancy miscarriage in a COVID-19 maternal infection by immunohistochemical, reverse transcription quantitative real-time polymerase chain reaction, immunofluorescence, and electron microscopy methods. SARS-CoV-2 nucleocapsid protein, viral RNA, and particles consistent with coronavirus were found in the placenta and fetal tissues, accompanied by RNA replication revealed by double-stranded RNA (dsRNA) positive immunostain. Prominent damage of the placenta and fetal organs were associated with a hyperinflammatory process identified by histological examination and immunohistochemistry. The findings provided in this study document that congenital SARS-CoV-2 infection is possible during the first trimester of pregnancy and that fetal organs, such as lung and kidney, are targets for coronavirus. The infection and multi-organic fetal inflammation produced by SARS-CoV-2 during early pregnancy should alert clinicians in the assessment and management of pregnant women for possible fetal consequences and adverse perinatal outcomes.


Assuntos
COVID-19/transmissão , Transmissão Vertical de Doenças Infecciosas , Placenta/virologia , Complicações Infecciosas na Gravidez/virologia , SARS-CoV-2/metabolismo , Aborto Espontâneo/virologia , Adulto , COVID-19/patologia , Feminino , Feto/patologia , Feto/virologia , Humanos , Placenta/patologia , Gravidez , Resultado da Gravidez , Primeiro Trimestre da Gravidez , Gestantes , RNA Viral/análise
5.
Clin Infect Dis ; 68(6): 903-912, 2019 03 05.
Artigo em Inglês | MEDLINE | ID: mdl-30188990

RESUMO

BACKGROUND: During pregnancy, the Zika virus (ZIKV) replicates in the placenta and central nervous system (CNS) of infected fetuses; nevertheless, the ability of ZIKV to replicate in other fetal tissues has not been extensively characterized. METHODS: We researched whether dissemination of congenitally-acquired ZIKV outside the CNS exists by searching for the accumulation of the viral envelope protein, ZIKV ribonucleic acid (RNA), and infectious viral particles in different organs of a deceased newborn with Congenital Zika Syndrome. A real-time qualitative polymerase chain reaction (qPCR) was used to detect ZIKV RNA in the brain, thymus, lungs, kidneys, adrenal glands, spleen, liver, and small intestine. The same tissues were analyzed by indirect immunofluorescence and immunoperoxidase assays using the monoclonal antibody 4G2 to detect ZIKV envelope antigens. Isolation of infectious ZIKV in a cell culture was carried out using brain and kidney samples. RESULTS: A postmortem, virological analysis of multiple organs, such as the kidneys (epithelial cells in the renal tubules), lungs (bronchial epithelia), thymus (epithelial cells inside the Hassall's corpuscles), and brain (neurons, ependymal cells, and macrophages) revealed the presence of ZIKV RNA and envelope antigens. Other tissues of the deceased newborn tested positive by qPCR for Epstein-Barr virus and human herpesvirus 6, including the brain cortex (Epstein-Barr) and the thymus, kidneys, and adrenal glands (human herpesvirus 6). The kidneys were identified as a significant niche for viral replication, given that infectious particles were successfully isolated from renal tissues. CONCLUSIONS: Our findings demonstrate the ability of congenitally-acquired ZIKV to produce disseminated infections and the viral tropism towards epithelial cells.


Assuntos
Complicações Infecciosas na Gravidez/diagnóstico , Complicações Infecciosas na Gravidez/virologia , Infecção por Zika virus/diagnóstico , Infecção por Zika virus/virologia , Zika virus/genética , Antígenos Virais , Autopsia , Biópsia , Coinfecção , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Transmissão Vertical de Doenças Infecciosas , Nefropatias/patologia , Nefropatias/virologia , México/epidemiologia , Gravidez , Complicações Infecciosas na Gravidez/epidemiologia , Vigilância em Saúde Pública , RNA Viral , Adulto Jovem , Zika virus/imunologia , Zika virus/ultraestrutura , Infecção por Zika virus/epidemiologia , Infecção por Zika virus/transmissão
6.
Heliyon ; 10(1): e23485, 2024 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-38173536

RESUMO

This is a case report of a young adult who died of COVID-19 twelve days after admission, with coronavirus nucleocapsid protein and lipofuscin found in the heart and kidney tissues, providing further evidence of the role of SARS-CoV-2 in cellular senescence.

7.
Fetal Pediatr Pathol ; 32(2): 152-7, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22643051

RESUMO

Sirenomelia is the most severe malformation complex affecting the human caudal pole, although its etiology is unclear, a primary defect of blastogenesis has been proposed. Studies consider sirenomelia as the most severe form of caudal dysgenesis, VACTERL association, or axial mesodermal dysplasia, although others still support the idea of a different pathologic entity. We report the prenatal, clinical, and pathologic features of a fetus with cleft lip and palate, microtia, cardiac, renal and intestinal malformations, radial aplasia, and sirenomelia. Karyotype, chromosomal breakage studies, and SHH sequence analysis were normal. The occurrence of cephalic, midline-paramedial, and caudal malformations in the same patient imply the diagnosis of hemifacial microsomia and sirenomelia. These entities are part of the same mesodermal malformation spectrum and the clinical presentation depends on environmental and genetic interactions in embrionic development. Future clinical and genome wide studies will help to better delineate this spectrum.


Assuntos
Anormalidades Múltiplas/patologia , Ectromelia/complicações , Ectromelia/patologia , Assimetria Facial/complicações , Assimetria Facial/patologia , Complicações na Gravidez/patologia , Adulto , Feminino , Feto/anormalidades , Humanos , Gravidez
8.
Front Pediatr ; 10: 883185, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35844759

RESUMO

Passive transplacental immunity is crucial for neonatal protection from infections. Data on the correlation between neonatal immunity to SARS-CoV-2 and protection from adverse outcomes is scarce. This work aimed to describe neonatal seropositivity in the context of maternal SARS-CoV-2 infection, seropositivity, and neonatal outcomes. This retrospective nested case-control study enrolled high-risk pregnant women with a SARS-CoV-2 RT-PCR positive test who gave birth at the Instituto Nacional de Perinatología in Mexico City and their term neonates. Anti-SARS-CoV-2 IgG antibodies in maternal and cord blood samples were detected using a chemiluminescent assay. In total, 63 mother-neonate dyads (mean gestational age 38.4 weeks) were included. Transplacental transfer of SARS-CoV-2 IgG occurred in 76% of neonates from seropositive mothers. A positive association between maternal IgG levels and Cycle threshold (Ct) values of RT-qPCR test for SARS-CoV-2 with neonatal IgG levels was observed. Regarding neonatal outcomes, most seropositive neonates did not require any mechanical ventilation, and none developed any respiratory morbidity (either in the COVID-19 positive or negative groups) compared to 7 seronegative neonates. Furthermore, the odds of neonatal respiratory morbidity exhibited a tendency to decrease when neonatal IgG levels increase. These results add further evidence suggesting passive IgG transfer importance.

9.
Viruses ; 13(9)2021 09 21.
Artigo em Inglês | MEDLINE | ID: mdl-34578466

RESUMO

(1) This study aimed to evaluate characteristics, perinatal outcomes, and placental pathology of pregnant women with or without SARS-CoV-2 infection in the context of maternal PCR cycle threshold (CT) values. (2) This was a retrospective case-control study in a third-level health center in Mexico City with universal screening by RT-qPCR. The association of COVID-19 manifestations, preeclampsia, and preterm birth with maternal variables and CT values were assessed by logistic regression models and decision trees. (3) Accordingly, 828 and 298 women had a negative and positive test, respectively. Of those positive, only 2.6% of them presented mild to moderate symptoms. Clinical characteristics between both groups of women were similar. No associations between CT values were found for maternal features, such as pre-gestational BMI, age, and symptomatology. A significantly higher percentage of placental fibrinoid was seen with women with low CTs (<25; p < 0.01). Regarding perinatal outcomes, preeclampsia was found to be significantly associated with symptomatology but not with risk factors or CT values (p < 0.01, aOR = 14.72). Moreover, 88.9% of women diagnosed with COVID-19 at <35 gestational weeks and symptomatic developed preeclampsia. (4) The data support strong guidance for pregnancies with SARS-CoV-2 infection, in particular preeclampsia and placental pathology, which need further investigation.


Assuntos
COVID-19/epidemiologia , COVID-19/virologia , Complicações Infecciosas na Gravidez/epidemiologia , Complicações Infecciosas na Gravidez/virologia , SARS-CoV-2/fisiologia , Adulto , Biópsia , COVID-19/diagnóstico , Feminino , Humanos , Imuno-Histoquímica , Transmissão Vertical de Doenças Infecciosas , Placenta/patologia , Placenta/virologia , Reação em Cadeia da Polimerase , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Resultado da Gravidez , Estudos Retrospectivos , Adulto Jovem
10.
PLoS One ; 16(4): e0249584, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33886590

RESUMO

The perinatal consequences of SARS-CoV-2 infection are still largely unknown. This study aimed to describe the features and outcomes of pregnant women with or without SARS-CoV-2 infection after the universal screening was established in a large tertiary care center admitting only obstetric related conditions without severe COVID-19 in Mexico City. This retrospective case-control study integrates data between April 22 and May 25, 2020, during active community transmission in Mexico, with one of the highest COVID-19 test positivity percentages worldwide. Only pregnant women and neonates with a SARS-CoV-2 result by quantitative RT-PCR were included in this study. Among 240 pregnant women, the prevalence of COVID-19 was 29% (95% CI, 24% to 35%); 86% of the patients were asymptomatic (95% CI, 76%-92%), nine women presented mild symptoms, and one patient moderate disease. No pregnancy baseline features or risk factors associated with severity of infection, including maternal age > 35 years, Body Mass Index >30 kg/m2, and pre-existing diseases, differed between positive and negative women. The median gestational age at admission for both groups was 38 weeks. All women were discharged at home without complications, and no maternal death was reported. The proportion of preeclampsia was higher in positive women than negative women (18%, 95% CI, 10%-29% vs. 9%, 95% CI, 5%-14%, P<0.05). No differences were found for other perinatal outcomes. SARS-CoV-2 test result was positive for nine infants of positive mothers detected within 24h of birth. An increased number of infected neonates were admitted to the NICU, compared to negative neonates (44% vs. 22%, P<0.05) and had a longer length of hospitalization (2 [2-18] days vs. 2 [2-3] days, P<0.001); these are potential proxies for illness severity. This report highlights the importance of COVID-19 detection at delivery in pregnant women living in high transmission areas.


Assuntos
COVID-19/epidemiologia , Complicações Infecciosas na Gravidez/epidemiologia , Adulto , COVID-19/diagnóstico , COVID-19/transmissão , Teste de Ácido Nucleico para COVID-19 , Estudos de Casos e Controles , Feminino , Humanos , Recém-Nascido , Transmissão Vertical de Doenças Infecciosas , Programas de Rastreamento , México/epidemiologia , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Resultado da Gravidez , Prevalência , Estudos Retrospectivos , SARS-CoV-2/isolamento & purificação , Centros de Atenção Terciária , Adulto Jovem
11.
Diagn Microbiol Infect Dis ; 97(4): 115075, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32534239

RESUMO

Formalin-fixed paraffin-embedded (FFPE) tissues are a source of biological material for molecular studies; several methods to extract DNA from FFPE tissues have been reported. This process is challenging because of formaldehyde-induced cross-linking between proteins and DNA as well as molecule fragmentation when unbuffered formalin is used for fixation. Here, 2 methods for DNA extraction from FFPE tissues, based on a chelating resin and silica membrane columns, were modified and compared in their capacity to detect human cytomegalovirus (HCMV) in congenital infections. Both methods were tested on 121 samples of brain, lung, spleen, and liver derived from 36 deceased preterm newborns. Twelve patients were selected, and UL55 and UL75 HCMV genes were detected by polymerase chain reaction in 16/36 samples. These 2 methods represent a useful tool for DNA recovery from FFPE tissues and HCMV molecular identification with the advantage of low cost, minimal steps, minimal sample use, being solvent-free, and being easy to implement in the laboratory.


Assuntos
Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/diagnóstico , Citomegalovirus/isolamento & purificação , Técnicas de Diagnóstico Molecular/métodos , Citomegalovirus/genética , DNA Viral/genética , DNA Viral/isolamento & purificação , Formaldeído , Humanos , Recém-Nascido , Inclusão em Parafina , Nascimento Prematuro , Reação em Cadeia da Polimerase em Tempo Real , Preservação de Tecido , Proteínas Virais/genética
12.
Ginecol Obstet Mex ; 77(9): 419-22, 2009 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-19899431

RESUMO

OBJECTIVE: To show the reproductive future of a case of endometrial cancer with conservative management. MATERIAL AND METHODS: a case report and literature review. 31 years old woman, with a history of infertility of three years and abnormal uterine bleeding of one year, diagnosed with well differentiated endometrial adenocarcinoma IA GI. Treatment was initiated with 500 mg of progesterone three times a week for 6 months, after an endometrial curettage reporting healthy endometrium, pregnancy was achieved with homologous artificial insemination after hysteroscopy and directed biopsy with laparoscopic control by assisted reproduction service. RESULTS: Exploratory laparotomy and cesarean section was performed at 38 weeks of pregnancy, giving a 3.340 g weight male with Apgar score 9/9. A review of abdominal cavity and an obstetric curettage were performed. Biopsies were taken from slides and peritoneal lavage, Neoplastic changes were not reported by pathology. CONCLUSIONS: Endometrial cancer is common in adult women and is increasingly affecting young women, associated with infertility, obesity and nulliparity. The treatment of choice: total hysterectomy with bilateral salpingooforectomy. The prognosis in well-differentiated early, and infertility, permits conservative management based on progestins, with good results, low recurrence rate and preserving fertility.


Assuntos
Adenocarcinoma/terapia , Neoplasias do Endométrio/terapia , Resultado da Gravidez , Adulto , Feminino , Humanos , Gravidez
13.
Stem Cell Res ; 34: 101364, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30611019

RESUMO

Although investigation with human embryonic stem cells (HESC) is not decreasing, the derivation of new lines has been diminished. The preeminence of only a few HESC lines in research is accompanied by lack of universal applicability of results as well as by genetic under-representation. We previously reported the derivation of one line with male karyotype from Mexican population. Here, we derived one HESC line (Amicqui-2) with female karyotype from poor-quality embryos. These line comply the pluripotent requirements (normal karyotype, detection of pluripotency-associated markers, mycoplasma test and teratoma formation) and could be a valuable model for studying diseases specific to under-represented population.


Assuntos
Técnicas de Cultura de Células/métodos , Embrião de Mamíferos/citologia , Células-Tronco Embrionárias Humanas/citologia , Animais , Linhagem Celular , Feminino , Humanos , México , Camundongos
14.
Stem Cell Res ; 15(2): 322-4, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-26246271

RESUMO

Data from the literature suggest that human embryonic stem cell (hESC) lines used in research do not genetically represent all human populations. The derivation of hESC through conventional methods involve the destruction of viable human embryos, as well the use of mouse embryonic fibroblasts as a feeder layer, which has several drawbacks. We obtained the hESC line (Amicqui-1) from poor-quality (PQ) embryos derived and maintained on human amniotic epithelial cells (hAEC). This line displays a battery of markers of pluripotency and we demonstrated the capacity of these cells to produce derivates of the three germ layers.


Assuntos
Âmnio/citologia , Técnicas de Cultura Embrionária/métodos , Células Epiteliais/citologia , Células-Tronco Embrionárias Humanas/citologia , Diferenciação Celular , Células Cultivadas , Embrião de Mamíferos/citologia , Células Epiteliais/metabolismo , Células Alimentadoras/citologia , Células-Tronco Embrionárias Humanas/metabolismo , Humanos , Cariotipagem , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo
15.
Arch Argent Pediatr ; 112(3): e108-12, 2014 06.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-24862819

RESUMO

UNLABELLED: 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.


Assuntos
Displasia Ectodérmica/genética , Deformidades Congênitas dos Membros/genética , Dermatoses do Couro Cabeludo/congênito , Displasia Ectodérmica/diagnóstico , Evolução Fatal , Feminino , Morte Fetal , Humanos , Recém-Nascido , Deformidades Congênitas dos Membros/diagnóstico , Fenótipo , Dermatoses do Couro Cabeludo/diagnóstico , Dermatoses do Couro Cabeludo/genética , Índice de Gravidade de Doença
16.
J Pediatr (Rio J) ; 90(2): 182-9, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24184305

RESUMO

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.


Assuntos
Infecções por Chlamydia/microbiologia , Infecções por Chlamydia/mortalidade , Chlamydia trachomatis/genética , DNA Bacteriano/isolamento & purificação , Autopsia , Feminino , Humanos , Recém-Nascido , Masculino , Mycoplasma/isolamento & purificação , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição/genética , RNA Ribossômico 16S
17.
Arch. argent. pediatr ; 112(3): e108-e112, jun. 2014. ilus
Artigo em Espanhol | LILACS | ID: lil-708500

RESUMO

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.


Assuntos
Feminino , Humanos , Recém-Nascido , Displasia Ectodérmica/genética , Deformidades Congênitas dos Membros/genética , Dermatoses do Couro Cabeludo/congênito , Displasia Ectodérmica/diagnóstico , Evolução Fatal , Morte Fetal , Deformidades Congênitas dos Membros/diagnóstico , Fenótipo , Índice de Gravidade de Doença , Dermatoses do Couro Cabeludo/diagnóstico , Dermatoses do Couro Cabeludo/genética
18.
J. pediatr. (Rio J.) ; 90(2): 182-189, Mar-Apr/2014. tab, graf
Artigo em Inglês | LILACS | ID: lil-709814

RESUMO

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. .


Assuntos
Feminino , Humanos , Recém-Nascido , Masculino , Infecções por Chlamydia/microbiologia , Infecções por Chlamydia/mortalidade , Chlamydia trachomatis/genética , DNA Bacteriano/isolamento & purificação , Autopsia , Mycoplasma/isolamento & purificação , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição/genética
19.
Bol. méd. Hosp. Infant. Méx ; 68(4): 284-289, jul.-ago. 2011. tab
Artigo em Espanhol | LILACS | ID: lil-700912

RESUMO

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.

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