Anemia in a neonate with placental mesenchymal dysplasia.
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ABSTRACT:
SUBMITTER: Ishikawa S
PROVIDER: S-EPMC4856236 | biostudies-other | 2016 May
REPOSITORIES: biostudies-other
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Project description:Introduction Placental mesenchymal dysplasia is a rare vascular disease associated with intrauterine growth restriction, fetal demise as well as Beckwith-Wiedemann syndrome. Some neonates present hematologic abnormalities possibly related to consumptive coagulopathy and hemolytic anemia in the placental circulation. Case report We present a case of placental mesenchymal dysplasia in a fetus with intrauterine growth restriction and cerebellar hemorrhagic injury diagnosed in the 20th week of pregnancy. During 26th week, our patient had an intrauterine fetal demise in the context of gestational hypertension. We have detailed the ultrasound findings that made us suspect the presence of hematologic disorders during 20th week. Discussion We believe that the cerebellar hematoma could be the consequence of thrombocytopenia accompanied by anemia. If hemorrhagic damage during fetal life is found, above all associates with an anomalous placental appearance and with intrauterine growth restriction, PMD should be suspected along other etiologies.
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Project description:Spleen rupture in an extremely premature newborn is very rare event. High index of suspicion is required to make timely diagnosis and thereafter appropriate management. We present a rare case of an extremely premature, extremely low birthweight newborn who presented with severe anemia secondary to splenic rupture. It was managed conservatively without splenectomy resulting in complete resolution of symptoms. Although non-operative management of pediatric splenic injuries is now recognized as the treatment of choice, there is very little experience in premature newborns.
| S-EPMC5538599 | biostudies-other
Project description:BackgroundWe aimed to examine maternal metabolic correlates of neonate body composition, and the potential mediating effect of the placenta.MethodsData were collected throughout pregnancy and at delivery. An oral glucose tolerance test (OGTT) was conducted in order to diagnose or rule out gestational diabetes mellitus (GDM). Maternal weight and blood pressure were taken and hypertension and gestational weight gain (GWG) were defined. Gestational age, birth weight (BW) and weight to length ration (WLR) were recorded. Photographs were taken of the placenta, and the widths and lengths were measured digitally. Body composition was analysed via air displacement plethysmography or dual-energy x-ray absorptiometry. Mediation models were conducted to determine the mediation effect of the placental variables on the relationships between maternal health variables and neonate outcomes. Next, interaction terms were added to models to determine how maternal and placental variables interacted in their effect on neonate outcomes.ResultsA total of n = 280 women were included in the analysis. Majority were overweight or obese. Fourteen percent of women developed GDM during pregnancy, 5% had hypertension during pregnancy, 32% were HIV positive, and 32% had anemia. For the birth weight outcome, coefficients of BMI were attenuated by the addition of placental variables (Model 1 β=18.66 vs Model 2 β=16.40). Similar patterns were evident for GWG and hypertension, and for the WLR outcome. In all cases the addition of the placental variables attenuated associations between maternal exposures and neonatal outcomes, yet the level of significance did not change. Inclusion of interaction terms reversed the direction of the relationships between hypertension and BW and WLR, and between GWG and WLR.ConclusionThe placenta buffers some harmful effects of obesity, GWG, and hypertension on neonate size, and placental efficiency interacted with most maternal risk factors to either counteract, or attenuate relationships with neonate size at birth. However the placenta was unable to completely counteract the negative effect of excess nutrient supply on in utero growth.
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Project description:Cerebral white matter is the most common anatomic location of neonatal brain injury in preterm newborns. Factors that predispose preterm newborns to white matter damage are understudied. In relation to studies of the placenta-brain-axis, dysregulated placental gene expression may play a role in preterm brain damage given its implication in programming early life origins of disease, including neurological disorders. There is a critical need to investigate the relationships between the placental transcriptome and white matter damage in the neonate. In a cohort of extremely low gestational age newborns (ELGANs), we aimed to investigate the relationship between the placental transcriptome and white matter damage as assessed by neonatal cranial ultrasound studies (echolucency and/or ventriculomegaly). We hypothesized that genes involved in inflammatory processes would be more highly expressed in placentas of ELGANs who developed ultrasound-defined indicators of white matter damage. Relative to either form of white matter damage, 659 placental genes displayed altered transcriptional profiles. Of these white matter damage-associated genes, largely distinct patterns of gene expression were observed in the study (n = 415/659 genes). Specifically, 381 genes were unique to echolucency and 34 genes were unique to ventriculomegaly. Pathways involved in hormone disruption and metabolism were identified among the unique echolucency or ventriculomegaly genes. Interestingly, a common set of 244 genes or 37% of all genes was similarly dysregulated in the placenta relative to both echolucency and ventriculomegaly. For this common set of white matter damage-related genes, pathways involved in inflammation, immune response and apoptosis, were enriched. Among the white matter damage-associated genes are genes known to be involved in Autism Spectrum Disorder (ASD) and endocrine system disorders. These data highlight differential mRNA expression patterning in the placenta and provide insight into potential etiologic factors that may predispose preterm newborns to white matter damage. Future studies will build upon this work to include functional measures of neurodevelopment as well as measures of brain volume later in life.
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Project description:We report a preterm neonate who had a large cervical cystic hygroma and right chylothorax. She was operated on day-21 and a near-complete resection of cystic hygroma was done. She developed refractory hypoxemia and shock post surgery and died after 24 hours. During autopsy, the chest cavity was found to be filled with chyle. Histopathological examination showed dilated lymphatics in the pleura, hepatic capsule, serosa of stomach and intestines, peri-pancreatic regions, peri-renal capsule and peri-adrenal tissues suggestive of generalised lymphatic dysplasia. Clinical exome sequencing did not reveal any pathogenic mutation in the genes involved in primary lymphatic dysplasia, noonan syndrome or rasopathies.
| S-EPMC6720905 | biostudies-literature
Project description:Placental mesenchymal dysplasia (PMD) and partial hydatidiform mole (PHM) placentas share similar characteristics, such as placental overgrowth and grape-like placental tissues. Distinguishing PMD from PHM is critical because the former can result in normal birth, while the latter diagnosis will lead to artificial abortion. Aneuploidy and altered dosage of imprinted gene expression are implicated in the pathogenesis of PHM and also some of the PMD cases. Diandric triploidy is the main cause of PHM, whereas mosaic diploid androgenetic cells in the placental tissue have been associated with the formation of PMD. Here, we report a very special PMD case also presenting with trophoblast hyperplasia phenotype, which is a hallmark of PHM. This PMD placenta has a normal biparental diploid karyotype and is functionally sufficient to support normal fetal growth. We took advantage of this unique case to further dissected the potential common etiology between these two diseases. We show that the differentially methylated region (DMR) at NESP55, a secondary DMR residing in the GNAS locus, is significantly hypermethylated in the PMD placenta. Furthermore, we found heterozygous mutations in NLRP2 and homozygous variants in NLRP7 in the mother's genome. NLRP2 and NLRP7 are known maternal effect genes, and their mutation in pregnant females affects fetal development. The variants/mutations in both genes have been associated with imprinting defects in mole formation and potentially contributed to the mild abnormal imprinting observed in this case. Finally, we identified heterozygous mutations in the X-linked ATRX gene, a known maternal-zygotic imprinting regulator in the patient. Overall, our study demonstrates that PMD and PHM may share overlapping etiologies with the defective/relaxed dosage control of imprinted genes, representing two extreme ends of a spectrum.
| S-EPMC8152467 | biostudies-literature
Project description:Anemia is commonly seen in preterm infants. It may reduce the capacity of hemoglobin to transport oxygen throughout the body and may result in tissue and organ dysfunction. This study aimed to investigate the effect of anemia on the development of bronchopulmonary dysplasia (BPD) in preterm infants. 243 infants who were admitted to BaYi Children's Hospital Affiliated to Clinical Medical College in Beijing Military General Hospital with gestational age (GA) less than 32 weeks from February, 2014 to February, 2015 were included in the study. Maternal and infant data were recorded. Multivarariate logistic regression analysis was performed to determine the association between anemia and BPD. Of 243 preterm infants, the incidence of anemia was higher in BPD patients than non-BPD patients (p < 0.001). Mean Hct in BPD patients was lower than non-BPD patients at different time points in 1d, 7d, 14d, and 21d. Controlling for other confounding factors, early anemia was associated with an increased risk of BPD. Number of transfusions is also a significant risk factor for BPD (p = 0.001). Therefore, prevention and treatment of early anemia is necessary and reducing number of transfusions may reduce the incidence of BPD in preterm infants.
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Project description:We describe a neonate with severe respiratory failure due to acinar dysplasia found by rapid exome sequencing (rES), to have a deletion containing the TBX4 gene. rES can affect patient management in the intensive care unit and should be considered in concert with lung biopsy in neonates with undifferentiated respiratory failure.
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Project description:Analysis of genes dysregulated in the lungs of neonates with ACDMPV neonate lungs compared to control lungs
2014-03-01 | GSE54780 | GEO
Project description:Recent reports describe hematopoietic abnormalities in mice with targeted instability of the mitochondrial genome. However, these abnormalities have not been fully described. We demonstrate that mutant animals develop an age-dependent, macrocytic anemia with abnormal erythroid maturation and megaloblastic changes, as well as profound defects in lymphopoiesis. Mice die of severe fatal anemia at 15 months of age. Bone-marrow transplantation studies demonstrate that these abnormalities are intrinsic to the hematopoietic compartment and dependent upon the age of donor hematopoietic stem cells. These abnormalities are phenotypically similar to those found in patients with refractory anemia, suggesting that, in some cases, the myelodysplastic syndromes are caused by abnormalities of mitochondrial function.
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