RESUMO
Desbuquois dysplasia (DBQD) is an autosomal recessive heterogeneous disorder characterized by joint laxity and skeletal changes, including a distinctive monkey-wrench appearance of the femora, advanced carpal ossification, and abnormal patterning of the preaxial digits. Two genes for DBQD (CANT1 encoding calcium-activated nucleotidase-1 and XYLT1 encoding xylosyltransferase-1) have been reported. We propose a novel gene for neonatal short limb dysplasia resembling DBQD, based on the phenotype and genotype of two affected siblings. The affected boy and girl died in early infancy and shortly after birth, respectively. The clinical hallmarks included mid-face hypoplasia, thoracic hypoplasia with respiratory failure, very short stature (approximately -7 SD of birth length) with mesomelic shortening of the limbs, and multiple dislocations of the large joints. Radiological examinations showed prominent lesser trochanter, flared metaphyses of the long bones, and joint dislocations. The affected boy had preaxial digital hypoplasia, and the affected girl showed overlapping and syndactyly of the preaxial digits. Molecular analyses of the girl showed compound heterozygous variants in FAM20B (NM_014864: c.174_178delTACCT p.T59Afs*19/c.1038delG p.N347Mfs*4). FAM20B encodes glycosaminoglycan xylosylkinase, which acts downstream of xylosyltransferase-1. Given the fact that FAM20B deficiency causes skeletal phenotypes in mice and zebrafish, these variants are highly probable to be pathogenic.
Assuntos
Anormalidades Craniofaciais/genética , Nanismo/genética , Extremidades/patologia , Instabilidade Articular/genética , Ossificação Heterotópica/genética , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Polidactilia/genética , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades Craniofaciais/enzimologia , Anormalidades Craniofaciais/patologia , Nanismo/diagnóstico por imagem , Nanismo/enzimologia , Nanismo/patologia , Extremidades/anatomia & histologia , Extremidades/diagnóstico por imagem , Extremidades/embriologia , Feminino , Glicosaminoglicanos/genética , Glicosaminoglicanos/metabolismo , Heterozigoto , Humanos , Recém-Nascido , Instabilidade Articular/diagnóstico por imagem , Instabilidade Articular/enzimologia , Instabilidade Articular/patologia , Masculino , Mutação , Ossificação Heterotópica/diagnóstico por imagem , Ossificação Heterotópica/enzimologia , Ossificação Heterotópica/patologia , Fenótipo , Fosfotransferases (Aceptor do Grupo Álcool)/metabolismo , Polidactilia/diagnóstico por imagem , Polidactilia/enzimologia , Polidactilia/patologia , Radiografia , Sequenciamento do ExomaRESUMO
Immune-related drug delivery systems (DDSs) in humanized mouse models are at the forefront of cancer research and serve as bridges between preclinical studies and clinical applications. These systems offer unique platforms for exploring new therapies and understanding their interactions with human cells and the immune system. Here, we focus on a DDS and a peripheral blood mononuclear cell (PBMC)-engrafted humanized mouse model that we recently developed, and consider some of the key components, challenges, and applications to advance these systems towards better cancer treatment on the basis of a better understanding of the immune response. Our DDS is unique and has a dual function, an anticancer effect and a capacity to fine-tune the immune reaction. The PBL-NOG-hIL-4-Tg mouse system is superior to other available humanized mouse systems for the development of such multifunctional DDSs because it supports the rapid reconstruction of an individual donor's immunity and avoids the onset of graft-versus-host disease.
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Syncytiotrophoblasts, which are formed by the fusion of villous cytotrophoblasts, play an essential role in maintaining a successful pregnancy. Secreted protein acidic and rich in cysteine (SPARC) is a non-structural Ca2+-binding extracellular matrix glycoprotein involved in tissue remodeling and cell proliferation, differentiation, and migration. Previous studies have revealed that SPARC is expressed in villous and extravillous cytotrophoblasts in the first trimester and that RNA interference targeted at SPARC significantly inhibited invasion of human extravillous trophoblast HTR8/SVneo cells. However, the involvement of SPARC in cytotrophoblast fusion remains unknown. This study aimed to investigate the role of SPARC in cytotrophoblast fusion, using the BeWo choriocarcinoma cell line as a model of villous cytotrophoblasts. Immunohistochemical analysis was conducted to assess SPARC expression in normal human placentas using placental tissues obtained during the first and third trimesters of pregnancy. We investigated the effects of SPARC knockdown on trophoblast differentiation markers and cell fusion in BeWo cells using small interfering RNA. Immunohistochemical analysis revealed that SPARC expression was high in the early gestational chorionic villi and low in the late gestational chorionic villi. SPARC knockdown increased the expressions of human chorionic gonadotropin and Ovo-like transcriptional repressor 1; however, glial cells missing transcription factor 1, syncytin-1, and syncytin-2 showed no significant changes. The assessment revealed that SPARC knockdown significantly enhanced cell fusion compared to the non-silencing control. Our data suggest that SPARC plays a vital role in regulating trophoblast fusion and differentiation during placental development.
Assuntos
Fusão Celular , Coriocarcinoma , Regulação para Baixo , Osteonectina , Trofoblastos , Humanos , Osteonectina/metabolismo , Osteonectina/genética , Feminino , Trofoblastos/metabolismo , Linhagem Celular Tumoral , Gravidez , Coriocarcinoma/metabolismo , Coriocarcinoma/patologia , Coriocarcinoma/genética , Placenta/metabolismo , Diferenciação CelularRESUMO
OBJECTIVES: To present a rare case of neonatal lupus erythematosus (NLE) associated with suspected hemophagocytic lymphohistiocytosis (HLH) or macrophage activation syndrome (MAS). CASE PRESENTATION: A female infant weighing 2,995 g was born to a mother without medical history of any disease. At birth, the patient had erythematous papules on her face and trunk. She was admitted at 1 day of age with elevated C-reactive protein levels. The patient was diagnosed with NLE based on the presence of anti-Ro/SSA and anti-La/SSB antibodies. Thereafter, it became clear that the antibody levels in her mother were also elevated. At 20 days of age, the infant showed elevated transaminases, ferritin, triglyceride, and soluble interleukin-2 receptor levels. Although HLH or MAS was suspected, she did not fulfill the diagnostic criteria. Thereafter, these abnormal values spontaneously improved, and the skin rash improved with the use of topical steroids. The patient was discharged at 39 days of age. At 1 year of age, the patient's growth and development were normal. CONCLUSION: NLE should be considered in infants with an unexplained skin rash at birth. When a diagnosis is made, close observation of the infant's clinical features is needed to determine whether they will develop HLH or MAS.
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Lúpus Eritematoso Sistêmico , Linfo-Histiocitose Hemofagocítica , Síndrome de Ativação Macrofágica , Humanos , Linfo-Histiocitose Hemofagocítica/diagnóstico , Linfo-Histiocitose Hemofagocítica/etiologia , Feminino , Síndrome de Ativação Macrofágica/diagnóstico , Síndrome de Ativação Macrofágica/etiologia , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/congênito , Recém-Nascido , Remissão Espontânea , Anticorpos Antinucleares/sangue , Proteína C-Reativa/análise , LactenteRESUMO
Progesterone suppresses several ancient pathways in a concentration-dependent manner. Based on these characteristics, progesterone is considered a candidate anticancer drug. However, the concentration of progesterone used for therapy should be higher than the physiological concentration, which makes it difficult to develop progesterone-based anticancer drugs. We previously developed liposome-encapsulated progesterone (Lipo-P4) with enhanced anticancer effects, which strongly suppressed triple-negative breast cancer cell proliferation in humanized mice. In this study, we aimed to clarify whether Lipo-P4 effectively suppresses the proliferation of B-lineage cancer cells. We selected six B-cell lymphoma and two myeloma cell lines, and analyzed their surface markers using flow cytometry. Next, we prepared liposome-encapsulated progesterone and examined its effect on cell proliferation in these B-lineage cancer cells, three ovarian clear cell carcinoma cell lines, two prostate carcinoma cell lines, and one triple-negative breast cancer adenocarcinoma cell line. Lipo-P4 suppressed the proliferation of all cancer cell lines. All B-lineage cell lines, except for the HT line, were more susceptible than the other cell types, regardless of the expression of differentiation markers. Empty liposomes did not suppress cell proliferation. These results suggest that progesterone encapsulated in liposomes efficiently inhibits the proliferation of B-lineage cells and may become an anticancer drug candidate for B-lineage cancers.
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Immune checkpoint inhibitors highlight the importance of anticancer immunity. However, their clinical utility and safety are limited by the low response rates and adverse effects. We focused on progesterone (P4), a hormone produced by the placenta during pregnancy, because it has multiple biological activities related to anticancer and immune regulation effects. P4 has a reversible immune regulatory function distinct from that of the stress hormone cortisol, which may drive irreversible immune suppression that promotes T cell exhaustion and apoptosis in patients with cancer. Because the anticancer effect of P4 is induced at higher than physiological concentrations, we aimed to develop a new anticancer drug by encapsulating P4 in liposomes. In this study, we prepared liposome-encapsulated anti-programmed death ligand 1 (PD-L1) antibody-conjugated P4 (Lipo-anti-PD-L1-P4) and evaluated the effects on the growth of MDA-MB-231 cells, a PD-L1-expressing triple-negative breast cancer cell line, in vitro and in NOG-hIL-4-Tg mice transplanted with human peripheral blood mononuclear cells (humanized mice). Lipo-anti-PD-L1-P4 at physiological concentrations reduced T cell exhaustion and proliferation of MDA-MB-231 in vitro. Humanized mice bearing MDA-MB-231 cells expressing PD-L1 showed suppressed tumor growth and peripheral tissue inflammation. The proportion of B cells and CD4+ T cells decreased, whereas the proportion of CD8+ T cells increased in Lipo-anti-PD-L1-P4-administrated mice spleens and tumor-infiltrated lymphocytes. Our results suggested that Lipo-anti-PD-L1-P4 establishes a systemic anticancer immune environment with minimal toxicity. Thus, the use of P4 as an anticancer drug may represent a new strategy for cancer treatment.
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Lipossomos , Neoplasias , Humanos , Animais , Camundongos , Progesterona , Leucócitos MononuclearesRESUMO
OBJECTIVE: Placenta previa complicates 0.3-0.5% of pregnancies and can cause sudden antepartum massive hemorrhage (APH). Previous studies have indicated that cervical length (CL) measured by transvaginal ultrasonography may be a predicting parameter for APH in patients with placenta previa; however, conflicting data exist. Thus, we investigated the association between CL and APH in patients with placenta previa. METHODS: In total, 129 singleton pregnant women with placenta previa, who delivered at our institution from January 2010 to December 2016, were included in this study. The shortest CL measured throughout gestation was used for analysis, and we defined CL less or more than 30 mm as short or normal CL, respectively. We performed univariate and multivariate analyses, and a receiver-operating characteristics (ROC) curve was plotted to determine the cut-off CL value to predict APH. RESULTS: APH occurred in 26 patients. The adjusted odds ratio for APH was 3.80 (95% CI, 1.36-10.65) in patients with short CL. ROC analysis was performed to determine a cut-off CL value of 35 mm to predict APH, with a sensitivity of 80.7% and a specificity of 60.2%. CONCLUSIONS: Our data indicated that CL measurements may be useful in determining patients at high risk of APH.
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Placenta Prévia , Humanos , Feminino , Gravidez , Placenta Prévia/diagnóstico por imagem , Hemorragia Uterina/etiologia , Hemorragia Uterina/complicações , Colo do Útero/diagnóstico por imagem , Curva ROCRESUMO
Progesterone (P4) and glucocorticoid (GC) play crucial roles in the immunoregulation of a mother to accept and maintain a semi-allogenic fetus. P4 concentration increases during pregnancy and becomes much higher in the placenta than in the other peripheral tissues, wherein the concentration of cortisol (COR), the most abundant GC and a strong immunosuppressor, remains uniform throughout the rest of the body. Here, we evaluated the effect of a high-P4 environment on pregnant immunity by comparing it with COR. Naïve T cell proportion increased transiently in peripheral blood of pregnant women just after delivery and decreased after one month. T cells stimulated with superantigen toxic-shock-syndrome-1 (TSST-1) in the presence of P4 stayed in the naïve state and did not increase, irrespective of the presence of COR, and reactive T cells could not survive. Treatment of T cells with P4 without T cell receptor (TCR) stimulation transiently suppressed T cell activation and proliferation, whereas the levels remain unaltered if P4 was not given before stimulation. Comparison of the engraftment and response against specific antigens using hu-PBL-NOG-hIL-4-Tg mice showed that P4-pretreated lymphocytes preserved CD62L expression and engrafted effectively in the spleen. Moreover, they produced antigen-specific antibodies, whereas COR-pretreated lymphocytes did not. These results suggest that a high-P4 environment suppresses T cell activation and induces T cell migration into lymphoid tissues, where they maintain the ability to produce anti-pathogen antibodies, whereas COR does not preserve T cell function. The mechanism may be pivotal in maintaining non-fetus-specific T cell function in pregnancy.
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Progesterona , Linfócitos T , Animais , Feminino , Glucocorticoides/farmacologia , Humanos , Hidrocortisona , Ativação Linfocitária , Camundongos , Gravidez , Progesterona/metabolismo , Receptores de Antígenos de Linfócitos T , Superantígenos , Linfócitos T/metabolismoRESUMO
We present 2 case reports of anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis that was successfully treated via laparoscopic ovarian cystectomy. In both cases, resection of an ovarian teratoma resulted in eventual full recovery. Although adnexectomy has been reported for tumor resection in anti-NMDAR encephalitis, we chose ovarian cystectomy to preserve ovarian function. The efficacy of cystectomy is equivalent to that of adnexectomy. This suggests that ovarian adnexectomy may not be necessary in anti-NMDAR encephalitis with ovarian teratoma.
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Autoanticorpos , Encefalite/imunologia , Neoplasias Ovarianas/cirurgia , Receptores de N-Metil-D-Aspartato/imunologia , Teratoma/cirurgia , Adulto , Feminino , Humanos , Laparoscopia , Neoplasias Ovarianas/complicações , Teratoma/complicaçõesRESUMO
Clinical guidelines for obstetrical practice were first published by the Japan Society of Obstetrics and Gynecology (JSOG) and the Japan Association of Obstetricians and Gynecologists (JAOG) in 2008, and a revised version was published in 2011. The aims of this publication include the determination of current standard care practices for pregnant women in Japan, the widespread use of standard care practices, the enhancement of safety in obstetrical practice, the reduction in burdens associated with medico-legal and medico-economical problems, and a better understanding between pregnant women and maternity-service providers. These guidelines include a total of 87 Clinical Questions followed by several Answers (CQ&A), a Discussion, a List of References, and some Tables and Figures covering common problems and questions encountered in obstetrical practice. Each answer with a recommendation level of A, B or C has been prepared based principally on 'evidence' or a consensus among Japanese obstetricians in situations where 'evidence' is weak or lacking. Answers with a recommendation level of A or B represent current standard care practices in Japan. All 87 CQ&A are presented herein to promote a better understanding of the current standard care practices for pregnant women in Japan.
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Ginecologia/normas , Serviços de Saúde Materna , Obstetrícia/normas , Medicina Baseada em Evidências , Feminino , Doenças Urogenitais Femininas/prevenção & controle , Doenças Urogenitais Femininas/terapia , Humanos , Recém-Nascido , Japão , Masculino , Serviços de Saúde Materna/tendências , Gravidez , Complicações na Gravidez/prevenção & controle , Complicações na Gravidez/terapia , TraduçõesRESUMO
Thus far, few reports have described the rare, non-obstructive type of fetal diffuse bowel dilatation. We describe such a case in the fetus of a 31-year-old Pakistani pregnant woman, gravida 3, para 2. A series of ultrasonographic examinations in the third trimester showed a "honeycomb" appearance of fetal d iffuse dilated bowel loops, a mildly enlarged stomach, and mild polyhydramnios. Magnetic resonance imaging further revealed fluid-filled dilated bowel loops extending to the colon and rectum. The male neonate was born at 36 weeks and had marked abdominal distension but did not show signs of mechanical bowel obstruction. He passed a profuse amount of liquid with meconium at 4 h of life. Thereafter, his distended abdomen and bowel dilatation subsided, and he became asymptomatic within a week of life. Taken together with previous case reports, among infants who show the "honeycomb" sign in utero, there definitely exists a subset with a favorable outcome and an unknown etiology. This case alerts physicians who are responsible for perinatal care to the fact that careful assessment is required for a newborn when the "honeycomb" sign is observed via fetal imaging. Without evidence of mechanical bowel obstruction, alternative etiologies should be sought to avoid unnecessary laparotomy.
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Obstrução Intestinal , Adulto , Dilatação , Feminino , Humanos , Lactente , Recém-Nascido , Obstrução Intestinal/diagnóstico por imagem , Obstrução Intestinal/etiologia , Obstrução Intestinal/cirurgia , Imageamento por Ressonância Magnética , Masculino , Mecônio , Gravidez , Diagnóstico Pré-NatalRESUMO
Tubal reanastomosis or tubal reversal, a surgical method used to reverse tubal sterilization, may be an option for women who for various reasons wish to reestablish their fertility. A 38-year-old Chinese woman, gravida 2, para 2 (both delivered through cesarean section) presented to our outpatient gynecology clinic requesting bilateral tubal recanalization. After other causes of infertility were excluded, laparoscopic tubal reanastomosis was performed. Here, we present our tips and techniques for laparoscopic tubal reanastomosis that rapidly resulted in an intrauterine pregnancy, which delivered at term. Laparoscopic tubal reanastomosis is a well-established procedure with good prognosis, as reported in the literature. For women who wish to become pregnant after tubal sterilization, it is necessary to present the option of surgery as well as in vitro fertilization.
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Laparoscopia , Esterilização Tubária , Adulto , Cesárea , Tubas Uterinas/cirurgia , Feminino , Humanos , Gravidez , Reversão da EsterilizaçãoRESUMO
We prepared ultrathin PFSA/PFSA-vinylon/PFSA laminated electrolyte membranes (thickness = 10 µm) for fuel cells without using a reinforcing material. Nafion and Aquivion solutions were used as PFSA polymers. Vinylon was synthesized by formalizing polyvinyl alcohol. From the current-voltage measurements using ultrathin PFSA/PFSA-vinylon/PFSA membranes; the cell resistances are significantly lower than that using a 50 µm Nafion membrane. A high current density was obtained under both low- and high-humidity conditions. Ultrathin PFSA/PFSA-vinylon/PFSA laminated membranes will help to further improve the performance of PEMFCs.
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We report a case of acquired factor XI deficiency with lupus anticoagulant (LA) in a 28-year-old primigravida who presented with finger pain and eruptions on her palms and fingers during the 3rd trimester of pregnancy. The patient complained of pain and reddening of the fingers at 30 weeks of gestation. She was referred to our tertiary center with a diagnosis of preeclampsia and suspected collagen disease at 35 weeks of gestation. Erythema was seen on the fingers and palms, and she presented with pain and cryesthesia on the fingers. Laboratory investigations revealed an activated partial thromboplastin time of 51 s (normal, 23-40 s), although it was normal during the 30th and 34th gestational weeks, LA with an anticardiolipin-beta2-glycoprotein I complex antibody, and low level of clotting XI activity (25 U/mL). On week 37 day 0 of gestation, the patient presented with severe hypertension. An urgent Cesarean section was performed after transfusion of two units of fresh frozen plasma. There was no excessive bleeding during the surgery or the postpartum period. The symptoms on her fingers and palms gradually improved after surgery. Our case indicates that dermatoses of pregnancy may become a starting point for the diagnosis of autoimmune diseases and coagulation abnormalities. When a patient presents with an atypical symptom, as in our case, the possibility of various diseases should be considered.
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Retained products of conception (RPOC) refer to the persistence of placental or fetal tissue in the uterus following delivery or miscarriage. RPOC may cause massive postpartum or post-abortion hemorrhage. Arterial embolization (AE) is an effective choice of management for postpartum hemorrhage including RPOC. We report a case of hemorrhagic RPOC, in which uterine artery embolization with transcervical resection did not achieve hemostasis, and laparotomy with uterine compression sutures was subsequently required. The RPOC was apparently fed by an aberrant branch derived from the inferior mesenteric artery (IMA). AE of IMA was not performed because of possible necrosis of the descending colon and rectum. A physician should be aware that AE is not an all-encompassing hemostatic technique for postpartum bleeding, such as with RPOC, and should keep alternatives in mind.
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Hemostasia Cirúrgica/métodos , Laparotomia/métodos , Artéria Mesentérica Inferior , Complicações do Trabalho de Parto/etiologia , Complicações do Trabalho de Parto/cirurgia , Placenta Retida/cirurgia , Hemorragia Pós-Parto/etiologia , Hemorragia Pós-Parto/cirurgia , Técnicas de Sutura , Útero/cirurgia , Adulto , Colo/patologia , Contraindicações , Feminino , Humanos , Angiografia por Ressonância Magnética , Necrose , Complicações do Trabalho de Parto/diagnóstico por imagem , Placenta Retida/diagnóstico por imagem , Hemorragia Pós-Parto/diagnóstico por imagem , Gravidez , Reto/patologia , Tomografia Computadorizada por Raios X , Embolização da Artéria Uterina/efeitos adversosRESUMO
OBJECTIVE: We assessed the clinical characteristics and perinatal outcome of disorders specific to monochorionic diamniotic (MD) twin pregnancies, focusing on twin-twin transfusion syndrome (TTTS) and related disorders, such as selective intrauterine growth restriction (sIUGR), inter-twin amniotic fluid discordance (AFD), and twin anemia polycythemia sequence (TAPS). METHODS: We retrospectively reviewed 69 cases of MD twin pregnancies delivered after 22 weeks at our institution from January 2009 to September 2013. RESULTS: TTTS occurred in 9 cases (13%). There was a total of 11 cases (16%) of MD twins with sIUGR in this period. One case developed TTTS. All 3 cases (4%) of AFD in this study developed TTTS or sIUGR. CONCLUSION: AFD should be recognized as predictors of TTTS or sIUGR. Further studies on TTTS-related disorders allow a more precise subgroup categorization that enables optimal management.
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Transfusão Feto-Fetal , Resultado da Gravidez , Gravidez de Gêmeos , Adulto , Feminino , Retardo do Crescimento Fetal , Transfusão Feto-Fetal/epidemiologia , Humanos , Gravidez , Estudos Retrospectivos , Gêmeos MonozigóticosRESUMO
BACKGROUND/AIM: Advanced ovarian clear-cell carcinoma (CCC) fails to respond to standard chemotherapy, and has a poor prognosis. Since hypoxia-inducible factor-1 (HIF-1) stimulates various genes involved in cancer, we aimed to examine the efficacy of silibinin, an active component of milk thistle belonging to Asteraceae, in suppressing HIF-1 activity, and elucidate the underlying mechanism in human CCC cell lines. MATERIALS AND METHODS: Human ovarian CCC cell lines HAC-2, OVISE, and RMG-1 were treated with 500 µM silibinin for 4 h under normoxic and hypoxic conditions. Using DNA microarray, we analysed genes whose expression modulated more than 2-fold in response to hypoxia, whereas HIF-1α expression was measured using ELISA. RESULTS: Silibinin treatment decreased HIF-1α protein in all cell lines, and eIF4E2 and RPS6 mRNA in HAC-2 and RMG-1 cells. CONCLUSION: Silibinin suppressed HIF-1α protein under hypoxic conditions in CCC cell lines and could be a potential anti-cancer drug.
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Adenocarcinoma de Células Claras/metabolismo , Antineoplásicos Fitogênicos/administração & dosagem , Subunidade alfa do Fator 1 Induzível por Hipóxia/antagonistas & inibidores , Subunidade alfa do Fator 1 Induzível por Hipóxia/metabolismo , Neoplasias Ovarianas/metabolismo , Silibina/administração & dosagem , Adenocarcinoma de Células Claras/tratamento farmacológico , Adenocarcinoma de Células Claras/genética , Biomarcadores , Hipóxia Celular , Linhagem Celular Tumoral , Feminino , Regulação Neoplásica da Expressão Gênica/efeitos dos fármacos , Humanos , L-Lactato Desidrogenase/metabolismo , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/genética , Transdução de Sinais/efeitos dos fármacosRESUMO
While pregnancy-related proteins (PRP) are known to contribute to immunotolerance during pregnancy, their significance to development of invasive placenta is unclear. We compared PRP expression in humans and the common marmoset (Callithrix jacchus), a new-world monkey. Invasive placenta was observed at the maternal-foetal interface of marmoset placenta from green fluorescent protein (GFP)-expressing foetus and wild type mother. The pregnancy zone protein (PZP) and alpha-2 macroglobulin-like 1 (A2ML1) proteins exhibited the most prominent increase in expression during the second trimester in humans and marmoset, respectively. In humans, PZP accumulated at the maternal-foetal interface and A2ML1 accumulated in the amnion. Similarly, A2ML1 mRNA was detected in marmoset placenta. These proteins belong to the A2M family of protease inhibitors, and both PZP and A2ML1 share around 90% homology between human and marmoset and have highly conserved structures. However, the protease-reacting bait regions of the proteins had lower homology (56.8-60.7% in proteins) relative to the rest of the sequence. Notably, the cleavage site of a proinflammatory proline-endopeptidase was preserved in human PZP and marmoset A2ML1. These proteins contain multiple sites that are cleaved by proteases involving proline-endopeptidase. Systemic regulation of these A2M family proteins may be important in animals with invasive placenta.
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Decídua/metabolismo , Proteínas da Gravidez/análise , alfa-Macroglobulinas/análise , Animais , Callithrix , Decídua/citologia , Decídua/crescimento & desenvolvimento , Feminino , Humanos , Gravidez , Proteínas da Gravidez/sangue , Inibidores de Proteases/metabolismo , Trofoblastos/fisiologiaRESUMO
We report a case of retroperitoneal teratoma diagnosed prenatally by serial sonographic examinations in the third trimester. A 29-year-old woman was referred for sonographic evaluation at 33 weeks' gestation because of a fetal intra-abdominal mass. Our initial sonographic image suggested a neuroblastoma. Repeat ultrasound images demonstrated an increase in size of the tumor, while the content of the tumor became predominantly solid with areas of calcification. Teratoma should be considered on detection of any cystic or mixed semisolid mass, especially when calcification is present. The fetus was prenatally diagnosed with retroperitoneal teratoma. After birth at 39 weeks, the tumor was removed and histological analysis revealed an immature retroperitoneal teratoma. Intensive monitoring of the changes in ultrasound images of the tumor should provide ground for a precise antenatal diagnosis.
Assuntos
Neoplasias Retroperitoneais/diagnóstico por imagem , Teratoma/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Feminino , Feto/patologia , Humanos , Imageamento por Ressonância Magnética , Gravidez , Neoplasias Retroperitoneais/cirurgia , Teratoma/cirurgiaRESUMO
Duodenal atresia concomitant with type-A esophageal atresia (DA + TA-EA) is rare. A pronounced enlargement of a closed loop of the upper gastrointestinal tract serves as an early clue for its prenatal detection. We describe an atypical case of DA + TA-EA in which the dilatation of the upper gastrointestinal tract remained mild. Ultrasonographic examination at 28 weeks of gestation showed mild polyhydramnios. Subsequent detailed sonographic and magnetic resonance imaging studies revealed a mildly enlarged stomach and duodenum that resembled a "double bubble," mild ascites, and polydactyly of the right thumb. Fetal abdominal circumference measurements were within normal range. A female neonate born at 36 weeks gestation did not show abdominal distension. DA + TA-EA was diagnosed based on clinical characteristics and X-ray studies of the neonate; the diagnosis was confirmed by surgery. Duodenoduodenostomy and gastrostomy in the first week of life and esophagoesophagostomy at six months of age were performed with satisfactory results, and the infant developed well. Prominent and/or increasing C-shaped fluid collection in the upper abdomen is a highly useful diagnostic sign for DA + TA-EA, but it is not applicable for all fetuses with this disease. Physicians should bear this caveat in mind to avoid diagnostic delays and initiate prompt postnatal therapy.