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https://www.readbyqxmd.com/read/28446798/novel-missense-mutation-in-dll4-in-a-japanese-sporadic-case-of-adams-oliver-syndrome
#1
Miwako Nagasaka, Mariko Taniguchi-Ikeda, Hidehito Inagaki, Yuya Ouchi, Daisuke Kurokawa, Keiji Yamana, Risa Harada, Kandai Nozu, Yoshitada Sakai, Sushil K Mishra, Yoshiki Yamaguchi, Ichiro Morikoka, Tatsushi Toda, Hiroki Kurahashi, Kazumoto Iijima
Adams-Oliver syndrome (AOS, OMIM; 100300) is a rare genetic disease characterized by aplasia cutis congenita, terminal transverse limb defects and cutis marmorata with vascular anomalies such as congenital heart defects. The etiology of this syndrome has remained largely unknown but defective Notch signaling during vascular formation has been suggested. Here we describe a sporadic Japanese newborn case with clinically diagnosed AOS. Trio whole-exome sequencing identified a de novo, novel, heterozygous missense mutation in the Delta-like 4 ligand gene (DLL4 c...
April 27, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28444286/screening-for-preeclampsia-us-preventive-services-task-force-recommendation-statement
#2
Kirsten Bibbins-Domingo, David C Grossman, Susan J Curry, Michael J Barry, Karina W Davidson, Chyke A Doubeni, John W Epling, Alex R Kemper, Alex H Krist, Ann E Kurth, C Seth Landefeld, Carol M Mangione, William R Phillips, Maureen G Phipps, Michael Silverstein, Melissa A Simon, Chien-Wen Tseng
Importance: Preeclampsia affects approximately 4% of pregnancies in the United States. It is the second leading cause of maternal mortality worldwide and may lead to serious maternal complications, including stroke, eclampsia, and organ failure. Adverse perinatal outcomes for the fetus and newborn include intrauterine growth restriction, low birth weight, and stillbirth. Many of the complications associated with preeclampsia lead to early induction of labor or cesarean delivery and subsequent preterm birth...
April 25, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28443985/zika-puzzle-in-brazil-peculiar-conditions-of-viral-introduction-and-dissemination-a-review
#3
Cristina Possas, Patricia Brasil, Mauro Ca Marzochi, Amilcar Tanuri, Reinaldo M Martins, Ernesto Ta Marques, Myrna C Bonaldo, Antonio Gp Ferreira, Ricardo Lourenço-de-Oliveira, Rita Maria R Nogueira, Patricia C Sequeira, Keyla Bf Marzochi, Akira Homma
This article discusses the peculiar conditions that favoured the unexpected introduction of Zika virus into the poorest northeastern region of Brazil in 2015, its speed of transmission to other Brazilian states, other Latin American countries and other regions, and the severity of related neurological disorders in newborns and adults. Contrasting with evidence that Zika had so far caused only mild cases in humans in the last six decades, the epidemiological scenario of this outbreak in Brazil indicates dramatic health effects: in 2015, an increase of 20-fold in notified cases of microcephaly and/or central nervous system (CNS) alterations suggestive of Zika congenital infection, followed by an exponential increase in 2016, with 2366 cumulative cases confirmed in the country by the end of December 2016...
May 2017: Memórias do Instituto Oswaldo Cruz
https://www.readbyqxmd.com/read/28443275/integration-of-hiv-testing-into-maternal-newborn-and-child-health-weeks-for-improved-case-finding-and-linkage-to-prevention-of-mother-to-child-transmission-services-in-benue-state-nigeria
#4
Olusoji Akinleye, Gideon Dura, Arjan de Wagt, Abiola Davies, Dick Chamla
BACKGROUND: In Nigeria, maternal, newborn, and child health (MNCH) weeks are campaign-like events designed to accelerate progress toward Millennium Development Goals. The authors examined whether integrating HIV testing into MNCH weeks was feasible and could lead to increased case finding and linkage to prevention of mother-to-child transmission (PMTCT) services. METHODS: Pregnant women attending MNCH week during the first week of December 2014 in 13 local government areas in Benue State were provided with HIV tests and referrals to PMTCT services...
2017: Frontiers in Public Health
https://www.readbyqxmd.com/read/28442521/application-of-flow-cytometry-in-the-early-diagnosis-of-neonatal-sepsis
#5
Mustafa Aydin, Sumeyye Barut, H Handan Akbulut, Sit Ucar, Aysen Orman
GOALS: To raise awareness of the utility of flow cytometric detection of inflammatory markers in the early diagnosis of neonatal sepsis. PROCEDURES: In accordance with the Töllner scoring system, cases with ≥10 points are accepted as having "clinical sepsis" and cases with 0-4 points as having "no sepsis". The study group consisted of 50 newborns with clinical sepsis as well as a control group of 50 newborns without sepsis. In all cases, blood counts, C-reactive protein (CRP) levels, and procalcitonin (PCT) levels were recorded...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28441821/-assessment-of-undiagnosed-critical-congenital-heart-disease-before-discharge-from-the-maternity-hospital
#6
Q M Zhao, F Liu, L Wu, M Ye, B Jia, X J Ma, G Y Huang
Objective: Undiagnosed critical congenital heart disease (CCHD) was assessed before discharge from maternity hospital.Basic information was provided for screening CCHD in the early neonatal stage.Chi-squared test was used for comparison of categorical variables(detection rate of different types of CCHD). Method: A retrospective cohort study was conducted in neonates with CCHD who were admitted to Children's Hospital of Fudan University between 1 January 2012 and 31 December 2015. For comparing with the previously reported undiagnosed rate of CCHD at discharge, CCHD was defined as all duct dependent congenital heart disease (DDCHD) and any cyanotic CHD that required early surgery...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28440985/-early-neonatal-sepsis-and-associated-factors
#7
Roberto Anaya-Prado, Cuauhtémoc Valero-Padilla, Augusto Sarralde-Delgado, Jorge Manuel Sánchez-González
BACKGROUND: Early-onset neonatal sepsis (EONS) is an infectious disease of low incidence but high morbidity and mortality with severe consequences to the newborn prognosis. Identifying the associated factors related to EONS allows to start a timely treatment and to take preventive measures. METHODS: In this case and controls study we identified all the newborns (NB) with and without EONS (cases and controls), diagnosed through blood culture in a period of three years...
May 2017: Revista Médica del Instituto Mexicano del Seguro Social
https://www.readbyqxmd.com/read/28440869/massive-pleural-effusion-on-the-contralateral-side-of-a-venous-peripherally-inserted-central-catheter
#8
Selim Sancak, Abdulhamit Tuten, Tulin Gokmen Yildirim, Guner Karatekin
A preterm newborn infant, delivered at 30 weeks of gestation and 965 g birth weight, developed respiratory distress with resistant hypoxia after a central catheter line was inserted via the right venae brachialis on postnatal day 21. Left-sided massive pleural effusion, collapsed left lung with air bronchograms, and bidirectional shunting through reopened ductus arteriosus were detected by targeted neonatal echocardiography. Hydrothorax was drained under sonographic guidance, producing a milky-white fluid biochemically compatible with parenteral nutrition...
April 25, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28439428/current-standards-in-abdominal-cavity-ultrasound-examination-in-children
#9
REVIEW
Michał Brzewski
Technological progress forces us to present after several years the updated standards in ultrasound examination of newborns, infants and older children. It should be emphasized that the examination of the youngest patients requires one to use high-class equipment. Lack of cooperation on the part of the child and imaging small structures constitute a huge challenge for the examiner. The work presents equipment requirements, the technology of examining the abdominal cavity in children and the manner of preparing the examination result...
March 2017: Journal of Ultrasonography
https://www.readbyqxmd.com/read/28438538/linking-newborn-severe-combined-immunodeficiency-screening-with-targeted-exome-sequencing-a-case-report
#10
Dipika R Patel, Hui Yu, Lee-Jun C Wong, James R Lupski, Filiz O Seeborg, Nicholas L Rider, Caridad A Martinez, Jordan S Orange, Celine Hanson
No abstract text is available yet for this article.
April 21, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28436622/congenital-intestinal-fibrosarcoma-with-rapid-recurrence-requiring-adjuvant-chemotherapy
#11
Wing Shan Queenie See, Daniel Ka Leung Cheuk, Ka Fai To, Philip Pun Ching Ip, Alan Kwok Shing Chiang, Shau Yin Ha, Godfrey Chi Fung Chan
A total of 16 cases of congenital fibrosarcoma have been reported from 1975 to March 2015. Five of the 16 had abnormal fusion between erythroblast transformation specific translocation variant 6 and neurotrophin recptor gene neurotrophic tyrosine kinase, receptor, type 3 (ETV6-NTRK3); in another five out of 16 this was absent, and six were not tested. All were managed by surgical resection but none involved metastasis. Herein we report the case of a newborn baby girl with congenital fibrosarcoma negative for ETV6-NTRK3 gene fusion, who presented with ileal perforation and positive resection margin...
April 24, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28434921/identification-of-a-novel-and-functional-mutation-in-the-tbx5-gene-in-a-patient-by-screening-from-354-patients-with-isolated-ventricular-septal-defect
#12
Huan-Xin Chen, Xi Zhang, Hai-Tao Hou, Jun Wang, Qin Yang, Xiu-Li Wang, Guo-Wei He
Ventricular septal defect (VSD) is the most frequently occurring congenital heart disease (CHD) in newborns. A number of genetic studies have linked TBX5 mutations to cardiac abnormalities. We aimed to identify potential pathogenic mutations in TBX5 and to provide insights into the etiology of sporadic and isolated VSD. Case-control mutational and functional analyses were performed in 354 sporadic patients with isolated VSD and 341 controls. All the coding exons and intron-exon boundaries of TBX5 were first sequenced in a group of VSD patients and controls...
April 18, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28434162/isolation-of-astrocytes-displaying-myofibroblast-properties-and-present-in-multiple-sclerosis-lesions
#13
Nicolas Vedrenne, Vincent Sarrazy, Laurence Richard, Nelly Bordeau, Serge Battu, Fabrice Billet, Alexis Desmoulière
A wide heterogeneity of lesions can affect the central nervous system (CNS). In all situations where neurons are damaged, including multiple sclerosis (MS), a common reactive astrocytosis is present. Sedimentation field-flow fractionation (SdFFF) was used to sort astrocyte subpopulations. After SdFFF elution, cells, prepared from rat newborn cortex, were cultured and analyzed by immunocytofluorescence for glial fibrillary acidic protein (GFAP) and α-smooth muscle (SM) actin (a specific marker for myofibroblasts) expression...
April 22, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28432156/epidemiology-of-valvular-heart-disease-in-a-swedish-nationwide-hospital-based-register-study
#14
Pontus Andell, Xinjun Li, Andreas Martinsson, Charlotte Andersson, Martin Stagmo, Bengt Zöller, Kristina Sundquist, J Gustav Smith
OBJECTIVE: Transitions in the spectrum of valvular heart diseases (VHDs) in developed countries over the 20th century have been reported from clinical case series, but large, contemporary population-based studies are lacking. METHODS: We used nationwide registers to identify all patients with a first diagnosis of VHD at Swedish hospitals between 2003 and 2010. Age-stratified and sex-stratified incidence of each VHD and adjusted comorbidity profiles were assessed...
April 21, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28432012/novel-compound-heterozygous-mutations-in-the-pex1-gene-in-two-chinese-newborns-with-zellweger-syndrome-based-on-whole-exome-sequencing
#15
Meng-Meng Ge, LiYuan Hu, ZhiHua Li, GuoQiang Cheng, Kai Yan, YanTing Kong, HuiJun Wang, Lin Yang, WenHao Zhou
Peroxisome biogenesis disorders (PBDs) represent a spectrum of human genetic disorders that are characterized by damaged peroxisome assembly. In the newborn period, the characteristics of affected patients include dysmorphic facial features, neonatal hypotonia, seizures, ocular abnormalities, poor feeding, liver cysts with hepatic dysfunction and skeletal defects. These can be caused by a defect in at least 14 different PEX genes. In this study, whole-exome sequencing (WES) was performed on samples from two Chinese newborns with clinical features of Zellweger syndrome...
April 18, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28431733/neonatal-repair-of-persistent-fifth-aortic-arch-coarctation-and-interrupted-fourth-aortic-arch
#16
Enrico Cetrano, Angelo Polito, Matteo Trezzi, Adriano Carotti
Persistent left fifth aortic arch is a rare anomaly often associated with aortic coarctation. We report the case of a newborn presenting with signs of duct-dependent aortic coarctation. Echocardiography showed an interrupted fourth aortic arch, persistent left fifth aortic arch associated with aortic coarctation, and a restrictive arterial duct. Arch repair was accomplished using the fifth aortic arch as an in situ flap to enlarge the hypoplastic fourth aortic arch associated with coarctectomy and extended end-to-end anastomosis...
May 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28429607/thalamic-hemorrhagic-stroke-in-the-term-newborn-a-specific-neonatal-syndrome-with-non-uniform-outcome
#17
Laura Merlini, Sylviane Hanquinet, Joel Fluss
BACKGROUND: Neonatal thalamic hemorrhagic stroke is related to cerebral sinus venous thrombosis and associated with neurological sequelae. Predicting factors are however lacking. METHODS: Clinical and radiological findings at onset and on follow-up of 5 neonates with thalamic hemorrhage stroke are described. RESULTS: All neonates presented with abrupt lethargy, ophistotonos, irritability and/or seizures. The thalamic hemorrhagic stroke was most often unilateral (4/5), involving the posterior/entire thalamus in 3 cases and the anterior thalamus in 2...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28427432/anti-human-platelet-antigen-hpa-1a-antibodies-may-affect-trophoblast-functions-crucial-for-placental-development-a-laboratory-study-using-an-in-vitro-model
#18
Mariana Eksteen, Gøril Heide, Heidi Tiller, Yan Zhou, Nora Hersoug Nedberg, Inigo Martinez-Zubiaurre, Anne Husebekk, Bjørn R Skogen, Tor B Stuge, Mette Kjær
BACKGROUND: Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a bleeding disorder caused by maternal antibodies against paternal human platelet antigens (HPAs) on fetal platelets. Antibodies against HPA-1a are accountable for the majority of FNAIT cases. We have previously shown that high levels of maternal anti-HPA-1a antibodies are associated with clinically significant reduced birth weight in newborn boys. Chronic inflammatory placental lesions are associated with increased risk of reduced birth weight and have previously been reported in connection with FNAIT pregnancies...
April 21, 2017: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/28425250/retrospective-analysis-of-maternal-fetal-and-neonatal-outcomesof-intrahepatic-cholestasis-of-pregnancy-at-gazi-university
#19
Berrin Günaydin, Merih Bayram, Melis Altuğ, Semra Cevher, Nuray Bozkurt
BACKGROUND/AIM: Maternal, fetal, and neonatal outcomes in parturients with intrahepatic cholestasis of pregnancy (ICP) have been retrospectively documented. We aimed to present pregnancy outcomes of parturients with ICP who underwent delivery. The study was conducted during a 1-year period. MATERIALS AND METHODS: After ethics committee approval, data from 1 January to 31 December 2015 were collected to identify parturients with ICP. RESULTS: Ten out of 37 patients underwent normal spontaneous vaginal delivery (NSVD), and the remaining 27 parturients underwent cesarean section (CS)...
April 18, 2017: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/28424287/protective-efficacy-of-formaldehyde-inactivated-whole-virus-vaccine-and-antivirals-in-a-murine-model-of-coxsackievirus-a10-infection
#20
Zhenjie Zhang, Zhaopeng Dong, Juan Li, Michael J Carr, Dongming Zhuang, Jianxing Wang, Yawei Zhang, Shujun Ding, Yigang Tong, Dong Li, Weifeng Shi
Coxsackievirus A10 (CVA10) is one of the major pathogens associated with hand, foot and mouth disease (HFMD). CVA10 infection can cause herpangina and viral pneumonia, which can be complicated by severe neurological sequelae. Morbidity and mortality of CVA10-associated HFMD has been increasing in recent years, particularly in the pan-Pacific region. There are limited studies however on the pathogenesis and immunology of CVA10-associated HFMD infections, and few antiviral drugs or vaccines have been reported...
April 19, 2017: Journal of Virology
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