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https://www.readbyqxmd.com/read/27924908/development-of-novel-noninvasive-prenatal-testing-protocol-for-whole-autosomal-recessive-disease-using-picodroplet-digital-pcr
#1
Mun Young Chang, Ah Reum Kim, Min Young Kim, Soyoung Kim, Jinsun Yoon, Jae Joon Han, Soyeon Ahn, Changsoo Kang, Byung Yoon Choi
We developed a protocol of noninvasive prenatal testing (NIPT), employing a higher-resolution picodroplet digital PCR, to detect genetic imbalance in maternal plasma DNA (mpDNA) caused by cell-free fetal DNA (cffDNA). In the present study, this approach was applied to four families with autosomal recessive (AR) congenital sensorineural hearing loss. First, a fraction of the fetal DNA in mpDNA was calculated. Then, we made artificial DNA mixtures (positive and negative controls) to simulate mpDNA containing the fraction of cffDNA with or without mutations...
December 7, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#2
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
December 6, 2016: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27921429/-congenital-hyperinsulinism-loss-of-b-cell-self-control
#3
Jan Lebl, Klára Roženková, Štěpánka Průhová
Congenital hyperinsulinism is a serious blood glucose regulation defect that interferes with brain development, leading to mental retardation, neurological sequelae and secondary epilepsy and ultimately may be life-threatening. Congenital hyperinsulinism (CHI) is caused by genetic defects of regulation of insulin secretion that induce insulin oversecretion in intrauterine life and postnatally. The clinical consequence is fetal macrosomia and subsequently neonatal and infantile hypoglycaemia. The most severe form is caused by biallelic mutations of KCNJ11 and ABCC8 genes that encode both potassium channel subunits, whereas their heterozygous mutations as well as enzymatic defects (GLUD1, HADH, GCK) lead to milder presentation...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27918156/-cesarean-section-incidence-and-vaginal-birth-success-rate-at-term-pregnancy-after-myomectomy
#4
L Mekiňová, P Janků, E Filipinská, J Kadlecová, P Ventruba
OBJECTIVE: To compare the incidence of primary and acute cesarean section (CS) and to compare success rate of vaginal delivery. To determine the frequency of maternal complications and evaluation of post-partum condition of the newborn. STUDY DESIGN: Prospective, pilot, cohort study. SETTING: Department of Gynecology and Obstetrics Masaryk University and University Hospital Brno. METHODS: Analysis of patients with physiologically ongoing singleton pregnancy and term delivery, vertex presentation...
2016: Ceská Gynekologie
https://www.readbyqxmd.com/read/27917811/acute-appendicitis-in-pregnant-women-our-clinical-experience
#5
Ahmet Türkan, Metin Yalaza, Mehmet Tolga Kafadar, Gürka Değirmencioğlu
PURPOSE: The purpose of this study was to analyse 13 patients who were treated in our clinic due to acute appendicitis during pregnancy. METHODS: Records of the patients who received appendectomy with appendicitis diagnosis in our Turgut Özal University Research and Application Hospital between January 2007 and December 2015 have been analyzed retrospectively. RESULTS: Appendectomies were performed on 13 pregnant patients with an acute appendicitis diagnosis...
December 1, 2016: Clinical and Investigative Medicine. Médecine Clinique et Experimentale
https://www.readbyqxmd.com/read/27917469/association-of-dysfunctional-synapse-defective-1-syde1-with-restricted-fetal-growth-syde1-regulates-placental-cell-migration-and-invasion
#6
Hsiao-Fan Lo, Ching-Yen Tsai, Chie-Pein Chen, Liang-Jie Wang, Yun-Shien Lee, Chia-Yu Chen, Chung-Tiang Liang, Mei-Leng Cheong, Hungwen Chen
The transcription factor glial cells missing 1 (GCM1) regulates trophoblast differentiation and function during placentation. Decreased GCM1 expression is associated with preeclampsia, suggesting that abnormal expression of GCM1 target genes may contribute to the pathogenesis of pregnancy complications. Here we identified a novel GCM1 target gene, synapse defective 1 (SYDE1), which encodes a RhoGAP that is highly expressed in human placenta, and demonstrated that SYDE1 promotes cytoskeletal remodelling and cell migration and invasion...
December 5, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27915139/impairment-of-fetal-hematopoietic-stem-cell-function-in-the-absence-of-fancd2
#7
Sakiko Suzuki, Ronny R Racine, Nathan A Manalo, Sharon B Cantor, Glen D Raffel
Fanconi Anemia (FA), results from mutations in genes necessary for DNA damage repair and often leads to progressive bone marrow failure. Although the exhaustion of the bone marrow leads to cytopenias in FA patients as they age, evidence from human FA and mouse model fetal livers suggests hematopoietic defects originate in utero which may lead to deficient seeding of the bone marrow. To address this possibility, we examined the consequences of loss of Fancd2, a central component of the FA pathway. Examination of E14...
November 30, 2016: Experimental Hematology
https://www.readbyqxmd.com/read/27913750/congenital-heart-block-and-immune-mediated-sensorineural-hearing-loss-possible-cross-reactivity-of-immune-response
#8
C Bason, I Pagnini, A Brucato, S Maestroni, A Puccetti, C Lunardi, R Cimaz
Immune-mediated sensorineural hearing loss may complicate systemic autoimmune diseases. We have previously reported the presence of antibodies directed against inner ear antigens in patients with Cogan syndrome, a disease characterized by sudden hearing loss and interstitial keratitis. Such autoantibodies cross-react with an epitope of SSA/Ro60 protein. Anti-Ro/SSA antibodies in pregnant women cross the placenta and reach the fetal tissues inducing an immune-mediated damage of the cardiac conduction system...
December 2, 2016: Lupus
https://www.readbyqxmd.com/read/27911878/y-box-binding-protein-1-promotes-hepatocellular-carcinomainitiating-cell-progression-and-tumorigenesis-via-wnt-%C3%AE-catenin-pathway
#9
Hsiao-Mei Chao, Hong-Xuan Huang, Po-Hsiang Chang, Kuo-Chang Tseng, Atsushi Miyajima, Edward Chern
Y-box binding protein-1 (YB-1) is a pleiotropic molecule that binds DNA to regulate genes on a transcriptional level in the nucleus and binds RNA to modulate gene translation in the cytoplasm. In our previous studies, YB-1 was also characterized as a fetal hepatic protein that regulates the maturation of hepatocytes and is upregulated during liver regeneration. Moreover, YB-1 has been shown to be expressed in human hepatocellular carcinoma (HCC). However, the role of YB-1 in HCC remains unclear. Here, we aimed to characterize the role of YB-1 in HCC...
December 1, 2016: Oncotarget
https://www.readbyqxmd.com/read/27910913/loss-of-egfr-asap1-signaling-in-metastatic-and-unresectable-hepatoblastoma
#10
Sarangarajan Ranganathan, Mylarappa Ningappa, Chethan Ashokkumar, Brandon W Higgs, Jun Min, Qing Sun, Lori Schmitt, Shankar Subramaniam, Hakon Hakonarson, Rakesh Sindhi
Hepatoblastoma (HBL), the most common childhood liver cancer is cured with surgical resection after chemotherapy or with liver transplantation if local invasion and multifocality preclude resection. However, variable survival rates of 60-80% and debilitating chemotherapy sequelae argue for more informed treatment selection, which is not possible by grading the Wnt-β-catenin over activity present in most HBL tumors. A hypothesis-generating whole transcriptome analysis shows that HBL tumors removed at transplantation are enriched most for cancer signaling pathways which depend predominantly on epidermal growth factor (EGF) signaling, and to a lesser extent, on aberrant Wnt-β-catenin signaling...
December 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27903074/bicornuate-uterus-is-an-independent-risk-factor-for-cervical-os-insufficiency-a-retrospective-population-based-cohort-study
#11
Salvatore Andrea Mastrolia, Yael Baumfeld, Reli Hershkovitz, Giuseppe Loverro, Edoardo Di Naro, David Yohai, Polina Schwarzman, Adi Yehuda Weintraub
INTRODUCTION: The purpose of our study was to explore maternal and fetal outcomes in the second and third trimester in women with bicornuate uterus. METHODS: A total of 280,106 pregnancies met the inclusion criteria and were divided in two study groups: (1) pregnancies in women with bicornuate uterus (n = 444); and (2) controls (n = 279,662). The diagnosis of bicornuate uterus was performed in all patients during the workup for infertility or recurrent pregnancy loss, during pregnancy, or at the time of cesarean delivery...
December 1, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27902772/relation-between-birth-weight-and-intraoperative-hemorrhage-during-cesarean-section-in-pregnancy-with-placenta-previa
#12
Hiroaki Soyama, Morikazu Miyamoto, Hiroki Ishibashi, Masashi Takano, Hidenori Sasa, Kenichi Furuya
BACKGROUND: Placenta previa, one of the most severe obstetric complications, carries an increased risk of intraoperative massive hemorrhage. Several risk factors for intraoperative hemorrhage have been identified to date. However, the correlation between birth weight and intraoperative hemorrhage has not been investigated. Here we estimate the correlation between birth weight and the occurrence of intraoperative massive hemorrhage in placenta previa. MATERIALS AND METHODS: We included all 256 singleton pregnancies delivered via cesarean section at our hospital because of placenta previa between 2003 and 2015...
2016: PloS One
https://www.readbyqxmd.com/read/27898546/lateral-position-for-cesarean-delivery-because-of-severe-aortocaval-compression-in-a-patient-with-marfan-syndrome-a-case-report
#13
John C Coffman, Russell L Legg, Catherine F Coffman, Kenneth R Moran
Prompt recognition and management of hypotension resulting from aortocaval compression syndrome are essential to optimize the maternal and fetal outcomes. Management involves increasing leftward uterine displacement and sometimes full lateral positioning, although lateral position during cesarean delivery is typically considered to be impractical. We report an obstetric patient case of severe aortocaval compression syndrome resulting in hypotension and loss of consciousness that ultimately underwent cesarean delivery under general anesthesia in the lateral position...
November 28, 2016: A & A Case Reports
https://www.readbyqxmd.com/read/27893464/the-h3k9-dimethyltransferases-ehmt1-2-protect-against-pathological-cardiac-hypertrophy
#14
Bernard Thienpont, Jan Magnus Aronsen, Emma Louise Robinson, Hanneke Okkenhaug, Elena Loche, Arianna Ferrini, Patrick Brien, Kanar Alkass, Antonio Tomasso, Asmita Agrawal, Olaf Bergmann, Ivar Sjaastad, Wolf Reik, Hywel Llewelyn Roderick
Cardiac hypertrophic growth in response to pathological cues is associated with reexpression of fetal genes and decreased cardiac function and is often a precursor to heart failure. In contrast, physiologically induced hypertrophy is adaptive, resulting in improved cardiac function. The processes that selectively induce these hypertrophic states are poorly understood. Here, we have profiled 2 repressive epigenetic marks, H3K9me2 and H3K27me3, which are involved in stable cellular differentiation, specifically in cardiomyocytes from physiologically and pathologically hypertrophied rat hearts, and correlated these marks with their associated transcriptomes...
November 28, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27891347/decidual-cd56-natural-killer-cells-in-spontaneous-early-pregnancy-loss-an-immunohistochemical-study
#15
Balamurugan Senthilnayagam, Sridhar Karthikeyan, Jayapriya Sukumaran, Anoop Srivalsan, Ramesh Rao, Vasantha Subbiah
INTRODUCTION: Natural killer cells are believed to promote placental and trophoblastic growth and provide immune- modulation at maternal-fetal interface in pregnancy and their role in reproductive failure has been a matter of discussion. AIM: To study CD56+ Natural killer cells in spontaneous pregnancy loss. MATERIALS AND METHODS: In this prospective observational study, formalin-fixed paraffin embedded sections from products of conception from twenty women each with spontaneous early pregnancy loss (test group) and elective pregnancy termination (control group)...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27891325/effect-of-tocopheryl-acetate-on-maternal-cigarette-smoke-exposed-swiss-albino-mice-inbred-fetus
#16
Janardan Chaudhary, Royana Singh, S N Shamal, K Supriya, Mona Srivastava, R S More
INTRODUCTION: Cigarette smoking is worldwide problem which can be correlated with teratogenicity. Tocopheryl acetate plays as an antioxidant against the oxidative stress evolved by cigarette smoke exposure during pregnancy. AIM: To study the effect of maternal exposure to cigarette smoke and Tocopheryl acetate on fetuses of mice. MATERIALS AND METHODS: Pregnant mice randomly assigned to different groups (Group I (control), Group II (Tocopheryl acetate), Group III(soyabean oil used as vehicle for Tocopheryl acetate), Group IV (Cigarette smoke Exposed), Group V (Cigarette smoke exposed plus Tocopheryl acetate) and Group VI(Cigarette smoke exposed plus soyabean oil) were exposed to cigarette smoke 3 times a day for 20 minutes each time and Tocopheryl acetate with dose of 200mg/kg/day in 0...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27886392/deregulated-expression-of-ezh2-in-congenital-brainstem-disconnection
#17
P G Barth, E Aronica, S Fox, K Fluiter, M A J Weterman, A Poretti, D C Miller, E Boltshauser, B Harding, M Santi, F Baas
Congenital brainstem disconnection (CBSD) is an enigmatic embryo-fetal defect presenting as (sub)total absence of a segment between mesencephalon and lower brainstem. Rostro-caudal limits of the defect vary while the basal pons is always involved and the cerebellum is globally hypoplastic. A recent update and review[1] lists 14 cases, including 3 brain autopsy studies[1-3]. Necrosis and glial- or inflammatory reactions were absent. Inferior olivary nuclei were small or absent, pontine nuclei depleted, and the cerebellar dentate nuclei dysplastic...
November 25, 2016: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/27878553/magnesium-sulfate-provides-neuroprotection-in-eclampsia-like-seizure-model-by-ameliorating-neuroinflammation-and-brain-edema
#18
Xiaolan Li, Xinjia Han, Jinying Yang, Junjie Bao, Xiaodan Di, Guozheng Zhang, Huishu Liu
Eclampsia is a hypertensive disorder of pregnancy that is defined by the new onset of grand mal seizures on the basis of preeclampsia and a leading cause of maternal and fetal mortality worldwide. Presently, magnesium sulfate (MgSO4) is the most effective treatment, but the mechanism by which MgSO4 prevents eclampsia has yet to be fully elucidated. We previously showed that systemic inflammation decreases the seizure threshold in a rat eclampsia-like model, and MgSO4 treatment can decrease systemic inflammation...
November 22, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27875852/computerized-cardiotocography-analysis-comparison-among-several-parental-ethnic-origins
#19
Di Tommaso Mariarosaria, Martello Giulia, Kanninen Tomi, Perelli Federica, Iannuzzi Laura, Sisti Giovanni
Objective We speculate that genetic racial disparity exists in fetal life and can be detected by modern computerized cardiotocography (cCTG). Methods This is a retrospective study comparing the results of the cCTG of pregnant patients at 37-42 weeks according to the parental ethnicity (black versus white). A cCTG was performed to analyze the variables of fetal heart rate (FHR). The cCTG variables analyzed were: percentage of signal loss; number of contractions; basal FHR; number of accelerations; number of decelerations; length of high variation episodes; short-term variability (STV); total trace duration time; and number of fetal active movements...
November 22, 2016: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/27873373/cardiac-output-and-blood-flow-redistribution-in-the-fetus-with-d-loop-transposition-of-the-great-arteries-and-intact-ventricular-septum-insights-into-the-pathophysiology
#20
Max E Godfrey, Kevin G Friedman, Monika Drogosz, Abraham M Rudolph, Wayne Tworetzky
OBJECTIVES: Although the postnatal physiology of D-loop transposition of the great arteries with intact ventricular septum (DTGA-IVS) is well established, little is known about fetal DTGA-IVS. In the normal fetus, the pulmonary valve (PV) is larger than the aortic valve (AoV), there is exclusive right to left flow at the foramen ovale (FO) and ductus arteriosus (DA), and the left ventricle (LV) ejects 40% of combined ventricular output (CVO) through the aorta, primarily to the brain. In DTGA-IVS, the LV ejects O2 -rich blood to the pulmonary artery, theoretically leading to pulmonary vasodilation, increased branch pulmonary arterial flow and reduced DA flow...
November 22, 2016: Ultrasound in Obstetrics & Gynecology
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