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https://www.readbyqxmd.com/read/29344810/dehydroepiandrosterone-dhea-supplementation-an-underappreciated-cause-of-premature-progesterone-elevation-detected-during-frozen-embryo-transfer
#1
Frank Shao-Ying Wu, Shao-Ping Weng, Meng-Shun Shen
No abstract text is available yet for this article.
January 18, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29344415/rhizoma-coptidis-and-berberine-as-a-natural-drug-to-combat-aging-and-aging-related-diseases-via-anti-oxidation-and-ampk-activation
#2
REVIEW
Zhifang Xu, Wei Feng, Qian Shen, Nannan Yu, Kun Yu, Shenjun Wang, Zhigang Chen, Seiji Shioda, Yi Guo
Aging is the greatest risk factor for human diseases, as it results in cellular growth arrest, impaired tissue function and metabolism, ultimately impacting life span. Two different mechanisms are thought to be primary causes of aging. One is cumulative DNA damage induced by a perpetuating cycle of oxidative stress; the other is nutrient-sensing adenosine monophosphate-activated protein kinase (AMPK) and rapamycin (mTOR)/ ribosomal protein S6 (rpS6) pathways. As the main bioactive component of natural Chinese medicine rhizoma coptidis (RC), berberine has recently been reported to expand life span in Drosophila melanogaster, and attenuate premature cellular senescence...
December 2017: Aging and Disease
https://www.readbyqxmd.com/read/29343476/role-of-macrophage-socs3-in-the-pathogenesis-of-aortic-dissection
#3
Satoko Ohno-Urabe, Hiroki Aoki, Michihide Nishihara, Aya Furusho, Saki Hirakata, Norifumi Nishida, Sohei Ito, Makiko Hayashi, Hideo Yasukawa, Tsutomu Imaizumi, Hidetoshi Akashi, Hiroyuki Tanaka, Yoshihiro Fukumoto
BACKGROUND: Aortic dissection (AD) is a life-threatening medical emergency caused by the abrupt destruction of the intimomedial layer of the aortic walls. Given that previous studies have reported the involvement of proinflammatory cytokine interleukin-6 in AD pathogenesis, we investigated the role of signal transduction and activator of transcription 3 signaling, a downstream pathway of interleukin-6 in macrophages in pathogenesis of AD. METHODS AND RESULTS: We characterized the pathological and molecular events triggered by aortic stress, which can lead to AD...
January 17, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29343133/central-nervous-system-malformation-associated-with-methamphetamine-abuse-during-pregnancy
#4
Silvia Maya-Enero, Júlia Candel-Pau, Mónica Rebollo-Polo, Santiago Candela-Cantó, Rafael de la Torre, María Ángeles López-Vílchez
INTRODUCTION: Prenatal methamphetamine exposure is related to prematurity, fetal growth restriction, neurobehavioral effects and long-term motor and cognitive sequelae. PATIENT PRESENTATION: We report the case of a newborn from a Filipina with no prenatal care with a complex brain malformation. Methamphetamine was identified in maternal and neonatal urine and in maternal hair, raising our suspicion of methamphetamine as a cause of this malformation. DISCUSSION: Methamphetamine abuse is a growing problem worldwide...
January 17, 2018: Clinical Toxicology
https://www.readbyqxmd.com/read/29342131/survey-of-plasma-proteins-in-children-with-progeria-pre-therapy-and-on-therapy-with-lonafarnib
#5
Leslie B Gordon, Susan E Campbell, Joseph M Massaro, Ralph B D'Agostino, Monica E Kleinman, Mark W Kieran, Marsha A Moses
BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS) is an ultra-rare, fatal, segmental premature aging syndrome caused by the aberrant lamin A protein, progerin. The protein farnesyltransferase inhibitor, lonafarnib, ameliorates some aspects of cardiovascular and bone disease. STUDY DESIGN: We performed a prospective longitudinal survey of plasma proteins in 24 children with HGPS (an estimated 10% of the world's population at the time) at baseline and on lonafarnib therapy, compared to age and gender-matched controls using a multi-analyte, microsphere-based immune-fluorescent assay...
January 17, 2018: Pediatric Research
https://www.readbyqxmd.com/read/29341890/periodontal-diseases-and-adverse-pregnancy-outcomes-is-there-a-role-for-vitamin-d
#6
REVIEW
Anne Marie Uwitonze, Peace Uwambaye, Moses Isyagi, Chrispinus H Mumena, Alice Hudder, Afrozul Haq, Kamrun Nessa, Mohammed S Razzaque
Studies have shown a relationship between maternal periodontal diseases (PDs) and premature delivery. PDs are commonly encountered oral diseases which cause progressive damage to the periodontal ligament and alveolar bones, leading to loss of teeth and oral disabilities. PDs also adversely affect general health by worsening cardiovascular and metabolic diseases. Moreover, maternal PDs are thought to be related to increasing the frequency of preterm-birth with low birth weight (PBLBW) new-borns. Prematurity and immaturity are the leading causes of prenatal and infant mortality and is a major public health problem around the world...
January 13, 2018: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29341476/a-rare-male-patient-with-classic-rett-syndrome-caused-by-mecp2_e1-mutation
#7
Narumi Tokaji, Hiromichi Ito, Tomohiro Kohmoto, Takuya Naruto, Rizu Takahashi, Aya Goji, Tatsuo Mori, Yoshihiro Toda, Masako Saito, Shoichiro Tange, Kiyoshi Masuda, Shoji Kagami, Issei Imoto
Rett syndrome (RTT) is a severe neurodevelopmental disorder typically affecting females. It is mainly caused by loss-of-function mutations that affect the coding sequence of exon 3 or 4 of methyl-CpG-binding protein 2 (MECP2). Severe neonatal encephalopathy resulting in death before the age of 2 years is the most common phenotype observed in males affected by a pathogenic MECP2 variant. Mutations in MECP2 exon 1 affecting the MeCP2_e1 isoform are relatively rare causes of RTT in females, and only one case of a male patient with MECP2-related severe neonatal encephalopathy caused by a mutation in MECP2 exon 1 has been reported...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29339761/new-virulence-factor-csk29544_02616-as-lpxa-binding-partner-in-cronobacter-sakazakii
#8
Seongok Kim, Hyunjin Yoon, Sangryeol Ryu
Cronobacter sakazakii is an opportunistic pathogen that can cause meningitis and necrotizing enterocolitis in premature infants, but its virulence determinants remain largely unknown. In this study, a transposon-mediated random-mutant library of C. sakazakii was used to identify new virulence factors. Compared to wild-type bacteria, a mutant lacking CSK29544_02616 (referred to as labp) was defective in invasion into intestinal epithelial cells (by at least 1000-fold) and showed less phagocytosis by macrophages (by at least 50-fold)...
January 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29339661/a-novel-foxl2-mutation-implying-blepharophimosis-ptosis-epicanthus-inversus-syndrome-type-i
#9
Fang Li, Peiwei Chai, Jiayan Fan, Xi Wang, Wenjuan Lu, Jin Li, Shengfang Ge, Renbing Jia, He Zhang, Xianqun Fan
BACKGROUND/AIMS: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease caused by FOXL2 gene mutations, and it is clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian failure (POF). Functional study of novel mutations is especially critical for female patients, as it may allow the prediction of infertility and early planning of an appropriate therapy. METHODS: A clinical and molecular genetic investigation was performed in all members of a Chinese family with BPES...
January 15, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29338783/children-with-premature-pubarche-is-an-alterated-neonatal-17-ohp-screening-test-a-predictive-factor
#10
Paolo Cavarzere, Margherita Mauro, Monica Vincenzi, Silvana Lauriola, Francesca Teofoli, Rossella Gaudino, Diego Alberto Ramaroli, Rocco Micciolo, Marta Camilot, Franco Antoniazzi
BACKGROUND: Neonatal screening for 21 hydroxylase deficiency is designed to detect classical form of congenital adrenal hyperplasia (CAH). It is still unclear whether newborns who result false positives at neonatal screening might later develop signs of androgen excess. The aim of this study is to verify whether a slightly elevated 17-OHP at newborn screening is a predictive factor for premature pubarche. METHODS: We evaluated all infants born between 2001 and 2014 with premature pubarche...
January 16, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29338493/challenges-of-peroral-endoscopic-myotomy-in-the-treatment-of-distal-esophageal-spasm
#11
Fraukje Anna-Marie Ponds, André J P M Smout, Paul Fockens, Albert J Bredenoord
OBJECTIVE: Distal esophageal spasm (DES) is a rare motility disorder characterized by premature and rapidly propagated contractions of the distal esophagus. Treatment options are limited and often poorly effective. Peroral endoscopic myotomy (POEM) seems an effective and attractive new treatment option for DES. In this case report we describe some of the difficulties that could arise. MATERIALS AND METHODS: A 84-year old man with therapy-refractory DES and complaints of severe dysphagia and chest pain underwent a POEM procedure under general anesthesia...
January 17, 2018: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/29337163/utility-of-ultra-deep-sequencing-for-detection-of-varicella-zoster-virus-antiviral-resistance-mutations
#12
Mélanie Mercier-Darty, David Boutolleau, Raphaël Lepeule, Christophe Rodriguez, Sonia Burrel
We report the first application of ultra-deep sequencing (UDS) to varicella-zoster virus (VZV) genotypic antiviral testing in a case of acyclovir-resistant VZV infection initially detected by Sanger sequencing within a deeply immunocompromised heart transplant recipient. As added-value compared to Sanger analysis, UDS revealed complex dynamics of viral population under antiviral pressure. Varicella-zoster virus (VZV) is a ubiquitous human herpesvirus affecting populations worldwide. VZV is commonly acquired in youth whose primary infection usually manifests as benign varicella (chickenpox)...
January 11, 2018: Antiviral Research
https://www.readbyqxmd.com/read/29336075/what-causes-the-encephalopathy-of-prematurity
#13
Bernard Dan
No abstract text is available yet for this article.
February 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29335528/exd2-governs-germ-stem-cell-homeostasis-and-lifespan-by-promoting-mitoribosome-integrity-and-translation
#14
Joana Silva, Suvi Aivio, Philip A Knobel, Laura J Bailey, Andreu Casali, Maria Vinaixa, Isabel Garcia-Cao, Étienne Coyaud, Alexis A Jourdain, Pablo Pérez-Ferreros, Ana M Rojas, Albert Antolin-Fontes, Sara Samino-Gené, Brian Raught, Acaimo González-Reyes, Lluís Ribas de Pouplana, Aidan J Doherty, Oscar Yanes, Travis H Stracker
Mitochondria are subcellular organelles that are critical for meeting the bioenergetic and biosynthetic needs of the cell. Mitochondrial function relies on genes and RNA species encoded both in the nucleus and mitochondria, and on their coordinated translation, import and respiratory complex assembly. Here, we characterize EXD2 (exonuclease 3'-5' domain-containing 2), a nuclear-encoded gene, and show that it is targeted to the mitochondria and prevents the aberrant association of messenger RNAs with the mitochondrial ribosome...
January 15, 2018: Nature Cell Biology
https://www.readbyqxmd.com/read/29334995/antisense-suppression-of-the-nonsense-mediated-decay-factor-upf3b-as-a-potential-treatment-for-diseases-caused-by-nonsense-mutations
#15
Lulu Huang, Audrey Low, Sagar S Damle, Melissa M Keenan, Steven Kuntz, Susan F Murray, Brett P Monia, Shuling Guo
BACKGROUND: About 11% of all human genetic diseases are caused by nonsense mutations that generate premature translation termination codons (PTCs) in messenger RNAs (mRNA). PTCs not only lead to the production of truncated proteins, but also often result in  decreased mRNA abundance due to  nonsense-mediated mRNA decay (NMD). Although pharmacological inhibition of NMD could be an attractive therapeutic approach for the treatment of diseases caused by nonsense mutations, NMD also regulates the expression of 10-20% of the normal transcriptome...
January 15, 2018: Genome Biology
https://www.readbyqxmd.com/read/29334594/thoracic-aortic-aneurysm-in-patients-with-loss-of-function-filamin-a-mutations-clinical-characterization-genetics-and-recommendations
#16
Ming Hui Chen, Sangita Choudhury, Mami Hirata, Siri Khalsa, Bernard Chang, Christopher A Walsh
The frequency and gender distribution of thoracic aortic aneurysm as a cardiovascular manifestation of loss-of-function (LOF) X-linked FilaminA (FLNA) mutations are not known. Furthermore, there is very limited cardiovascular morbidity or mortality data in children and adults. We analyzed cardiac data on the largest series of 114 patients with LOF FLNA mutations, both children and adults, with periventricular nodular heterotopia (PVNH), including 48 study patients and 66 literature patients, median age of 22...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29334526/airborne-particulate-matter-human-exposure-health-effects
#17
Jonathan E Thompson
OBJECTIVE: Exposure to airborne particulate matter (PM) is estimated to cause millions of premature deaths annually. This work conveys known routes of exposure to PM and resultant health effects. METHODS: Review of available literature. RESULTS: Estimates for daily PM exposure are provided. Known mechanisms by which insoluble particles are transported and removed from the body are discussed. Biological effects of PM, including immune response, cytotoxicity, and mutagenicity are reported...
January 12, 2018: Journal of Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/29333838/solitary-median-maxillary-central-incisor-holoprosencephaly-and-congenital-nasal-pyriform-aperture-stenosis-in-a-premature-infant-case-report
#18
Ozkan Ilhan, Yeliz Pekcevik, Sinem Akbay, Senem A Ozdemir, Seyma Memur, Berat Kanar, Ozgur Kirbiyik, Esra A Ozer
Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29331980/dmc1-mutation-that-causes-human-non-obstructive-azoospermia-and-premature-ovarian-insufficiency-identified-by-whole-exome-sequencing
#19
Wen-Bin He, Chao-Feng Tu, Qiang Liu, Lan-Lan Meng, Shi-Min Yuan, Ai-Xiang Luo, Fu-Sheng He, Juan Shen, Wen Li, Juan Du, Chang-Gao Zhong, Guang-Xiu Lu, Ge Lin, Li-Qing Fan, Yue-Qiu Tan
BACKGROUND: The genetic causes of the majority of male and female infertility caused by human non-obstructive azoospermia (NOA) and premature ovarian insufficiency (POI) with meiotic arrest are unknown. OBJECTIVE: To identify the genetic cause of NOA and POI in two affected members from a consanguineous Chinese family. METHODS: We performed whole-exome sequencing of DNA from both affected patients. The identified candidate causative gene was further verified by Sanger sequencing for pedigree analysis in this family...
January 13, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29331873/epilepsy-and-ovarian-failure-two-cases-of-adolescent-onset-ovarioleukodystrophy
#20
José David Herrera-García, Virginia Guillen-Martínez, Carlota Creus-Fernández, Adolfo Mínguez-Castellanos, Cristóbal Carnero Pardo
Vanishing white matter disease (VWM) was described by Van der Knaap in 1996. This association with premature ovarian failure is known as ovarioleukodystrophy. This is a rare entity caused by a mutation in one of the subunits of eukaryotic initiation factor 2B (EIF2B). The onset in adulthood or late in adolescence is very infrequent. A 41-years-old woman and her 37-years-old sister developed epilepsy in association with premature ovarian failure at the age of 13 and 18 respectively. The oldest-one started 17 years later progressive subcortical cognitive decline with predominant behavioural disorders and a progressive spastic paraparesis in association with symmetric cystic changes in the with matter of both hemispheres...
January 5, 2018: Clinical Neurology and Neurosurgery
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