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https://www.readbyqxmd.com/read/29332067/incidence-of-and-risk-factors-for-residual-anastomoses-in-twin-twin-transfusion-syndrome-treated-with-laser-surgery-a-15-year-single-center-experience
#1
P J C Knijnenburg, F Slaghekke, L S A Tollenaar, J M van Klink, D P Zhao, J M Middeldorp, M C Haak, F J Klumper, D Oepkes, E Lopriore
OBJECTIVES: To evaluate the incidence of residual anastomoses (RA) after laser therapy for twin-twin transfusion syndrome (TTS) and investigate risk factors for incomplete laser surgery. MATERIAL AND METHODS: All available TTS placentas treated with laser at our center between 2002 and 2016 were injected with color dye to assess the presence of RA. We evaluated the incidence of RA over the past 15 years by dividing the cohort into three time periods, and studied the association with risk factors and neonatal outcome...
January 12, 2018: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29331980/dmc1-mutation-that-causes-human-non-obstructive-azoospermia-and-premature-ovarian-insufficiency-identified-by-whole-exome-sequencing
#2
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
#3
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
https://www.readbyqxmd.com/read/29331576/normative-distribution-of-substance-p-and-its-tachykinin-neurokinin-1-receptor-in-the-medullary-serotonergic-network-of-the-human-infant-during-postnatal-development
#4
Fiona M Bright, Roger W Byard, Robert Vink, David S Paterson
Substance P (SP) and its tachykinin NK1 receptor (NK1R) function within key medullary nuclei to regulate cardiorespiratory and autonomic control. We examined the normative distribution of SP and NK1R in the serotonergic (5-Hydroxytryptamine, [5-HT]) network of the human infant medulla during postnatal development, to provide a baseline to facilitate future analysis of the SP/NK1R system and its interaction with 5-HT within pediatric brainstem disorders in early life. [125I] labelled Bolton Hunter SP (BH-SP) tissue receptor autoradiography (n = 15), single label immunohistochemistry (IHC) and double label immunofluorescence (IF) (n = 10) were used to characterize the normative distribution profile of SP and NK1R in the 5-HT network of the human infant medulla during postnatal development...
January 10, 2018: Brain Research Bulletin
https://www.readbyqxmd.com/read/29331563/trends-in-premature-mortality-due-to-heart-failure-by-autonomous-community-in-spain-1999-to-2013
#5
Lidia Gómez-Martínez, Domingo Orozco-Beltrán, José A Quesada, Vicente Bertomeu-González, Vicente F Gil-Guillén, Adriana López-Pineda, Concepción Carratalá-Munuera
INTRODUCTION AND OBJECTIVES: Heart failure (HF) is a major public health problem, and the prevalence increases with age. In Spain, there are considerable differences between autonomous communities. The aim of this study was to analyze trends in premature mortality due to HF between 1999 and 2013 in Spain by autonomous community. METHODS: We analyzed data on mortality due to HF in Spanish residents aged 0 to 75 years by autonomous community between 1999 and 2013...
January 10, 2018: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29331441/poor-oral-intake-in-a-late-preterm-twin-usual-symptom-with-an-unusual-diagnosis
#6
Ajay Pratap Singh, Rula Balluz, Praveen Chandrasekharan
BACKGROUND: At three weeks of age, a previous 34 weeks' gestation male infant (twin A) was transferred to our regional perinatal center (RPC) with complaints of poor oral feeding and intermittent tachypnea. Twin B was discharged at 37 weeks with an uneventful course. CASE: Twin A briefly required respiratory support but continued to have difficulty transitioning from gavage to oral feeding. Initially, his inability to feed orally was thought to be secondary to nasal congestion and prematurity, but with worsening respiratory distress he was transferred for further evaluation and management...
January 10, 2018: Heart & Lung: the Journal of Critical Care
https://www.readbyqxmd.com/read/29331326/cryptorchidism-in-sweden-a-nationwide-study-of-prevalence-operative-management-and-complications
#7
Susanna Bergbrant, Erik Omling, Jonas Björk, Lars Hagander
OBJECTIVES: To review the cumulative prevalence, operative management, and complications of treatment for cryptorchidism in Sweden. STUDY DESIGN: A nationwide observational study from longitudinal register data of all Swedish-born boys 0-18 years of age, diagnosed with cryptorchidism from 2001 to 2014. Primary outcomes were occurrence and age at primary surgery. Secondary outcomes included type of procedure and surgical site infection. RESULTS: Of 20 375 boys diagnosed with cryptorchidism in 2001-2014, 12 766 were surgically treated...
January 10, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29331236/pregnancy-related-complications-and-perinatal-outcomes-resulting-from-transfer-of-cryopreserved-versus-fresh-embryos-in%C3%A2-vitro-fertilization-a-meta-analysis
#8
Tingting Sha, Xunqiang Yin, Wenwei Cheng, Isaac Yaw Massey
OBJECTIVE: To provide an updated comparison of pregnancy-related complications and adverse perinatal outcomes of pregnancies conceived after frozen embryo transfer (FET) versus fresh embryo transfer (fresh ET). DESIGN: Meta-analysis. SETTING: University. PATIENT(S): Pregnancies resulting from FET versus fresh ET. INTERVENTIONS(S): Pubmed, Embase, Cochrane Library, Google Scholar, and Chinese databases, including the China National Knowledge Infrastructure Database, Wanfang, and Chinese Scientific Journals Full-Text Database were searched by two independent reviewers from January 1980 to September 2017...
January 11, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29331218/knowing-when-to-stop-aberrant-precision-and-evidence-accumulation-in-schizophrenia
#9
Roberto Limongi, Bartosz Bohaterewicz, Magdalena Nowicka, Aleksandra Plewka, Karl J Friston
Predictive coding and active inference formulations of the dysconnection hypothesis suggest that subjects with schizophrenia (SZ) hold unduly precise prior beliefs to compensate for a failure of sensory attenuation. This implies that SZ subjects should both initiate responses prematurely during evidence-accumulation tasks and fail to inhibit their responses at long stop-signal delays. SZ and healthy control subjects were asked to report the timing of billiards-ball collisions and were occasionally required to withhold their responses...
January 10, 2018: Schizophrenia Research
https://www.readbyqxmd.com/read/29330474/a-de-novo-foxp1-truncating-mutation-in-a-patient-originally-diagnosed-as-c-syndrome
#10
Roser Urreizti, Sarah Damanti, Carla Esteve, Héctor Franco-Valls, Laura Castilla-Vallmanya, Raul Tonda, Bru Cormand, Lluïsa Vilageliu, John M Opitz, Giovanni Neri, Daniel Grinberg, Susana Balcells
De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. C syndrome (Opitz C trigonocephaly syndrome) is a rare and genetically heterogeneous condition, characterized by trigonocephaly, craniofacial anomalies and ID. Several different chromosome deletions and and point mutations in distinct genes have been associated with the disease in patients originally diagnosed as Opitz C. By whole exome sequencing we identified a de novo splicing mutation in FOXP1 in a patient, initially diagnosed as C syndrome, who suffers from syndromic intellectual disability with trigonocephaly...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330421/premature-recruitment-of-oocyte-pool-and-increased-mtor-activity-in-fmr1-knockout-mice-and-reversal-of-phenotype-with-rapamycin
#11
E Mok-Lin, M Ascano, A Serganov, Z Rosenwaks, T Tuschl, Z Williams
While mutations in the fragile X mental retardation-1 (FMR1) gene are associated with varying reproductive outcomes in females, the effects of a complete lack of FMR1 expression are not known. Here, we studied the ovarian and reproductive phenotypes in an Fmr1 knockout (KO) mouse model and the role of mammalian target of rapamycin (mTOR) signaling. Breeding, histologic and mTOR signaling data were obtained at multiple time points in KO and wild type (WT) mice fed a control or rapamycin (mTOR inhibitor) diet...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330408/collagen-type-1-accelerates-healing-of-ruptured-fetal-membranes
#12
Haruta Mogami, Annavarapu Hari Kishore, R Ann Word
Preterm premature rupture of membranes (pPROM) is a major cause of preterm birth. Recently, extracellular matrix-directed treatment is applied for wound healing. Here, we used a pregnant mouse model to test the efficacy of collagen type 1 gel for healing of the prematurely ruptured fetal membranes. Although injection of PBS into the ruptured fetal membranes resulted in 40% closure, injection of collagen type 1 improved closure rates to 90% within 72 h. Macrophages of the M2 wound healing phenotype were entrapped in the collagen layer...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330354/the-res-complex-is-required-for-efficient-transformation-of-the-precatalytic-b-spliceosome-into-an-activated-bact-complex
#13
Penghui Bao, Cindy L Will, Henning Urlaub, Kum-Loong Boon, Reinhard Lührmann
The precise function of the trimeric retention and splicing (RES) complex in pre-mRNA splicing remains unclear. Here we dissected the role of RES during the assembly and activation of yeast spliceosomes. The efficiency of pre-mRNA splicing was significantly lower in the absence of the RES protein Snu17, and the recruitment of its binding partners, Pml1 (pre-mRNA leakage protein 1) and Bud13 (bud site selection protein 13), to the spliceosome was either abolished or substantially reduced. RES was not required for the assembly of spliceosomal B complexes, but its absence hindered efficient Bact complex formation...
January 12, 2018: Genes & Development
https://www.readbyqxmd.com/read/29330030/health-impact-assessment-of-cycling-network-expansions-in-european-cities
#14
Natalie Mueller, David Rojas-Rueda, Maëlle Salmon, David Martinez, Albert Ambros, Christian Brand, Audrey de Nazelle, Evi Dons, Mailin Gaupp-Berghausen, Regine Gerike, Thomas Götschi, Francesco Iacorossi, Luc Int Panis, Sonja Kahlmeier, Elisabeth Raser, Mark Nieuwenhuijsen
We conducted a health impact assessment (HIA) of cycling network expansions in seven European cities. We modeled the association between cycling network length and cycling mode share and estimated health impacts of the expansion of cycling networks. First, we performed a non-linear least square regression to assess the relationship between cycling network length and cycling mode share for 167 European cities. Second, we conducted a quantitative HIA for the seven cities of different scenarios (S) assessing how an expansion of the cycling network [i...
January 9, 2018: Preventive Medicine
https://www.readbyqxmd.com/read/29330015/mother-to-child-transmission-of-extended-spectrum-beta-lactamase-producing-enterobacteriaceae
#15
Dana Danino, Rimma Melamed, Batya Sterer, Nurith Porat, Guy Hazan, Alex Gushanski, Eilon Shany, David Greenberg, Avraham Borer
BACKGROUND: Preterm infants are at high risk for extended spectrum beta-lactamase producing Enterobacteriaceae (ESBL-E) sepsis and neonatal intensive care unit (NICU) outbreaks. Maternal colonization with ESBL-E may be precursory to maternal-neonatal transmission. However, there is no consensus regarding surveillance of pregnant women for ESBL-E colonization. AIM: To identify pairs of mothers and offspring harbouring same-strain ESBL-E colonization and to determine whether maternal transmission may play a role in increasing ESBL-E carriage in preterm infants...
January 9, 2018: Journal of Hospital Infection
https://www.readbyqxmd.com/read/29329576/spontaneous-prematurity-in-fetuses-with-congenital-diaphragmatic-hernia-a-retrospective-cohort-study-about-prenatal-predictive-factors
#16
Bruna Maria Lopes Barbosa, Agatha S Rodrigues, Mario Henrique Burlacchini Carvalho, Roberto Eduardo Bittar, Rossana Pulcineli Vieira Francisco, Lisandra Stein Bernardes
BACKGROUND: To evaluate possible predictive factors of spontaneous prematurity in fetuses with congenital diaphragmatic hernia (CDH). METHODS: A retrospective cohort study was performed. Inclusion criteria were presence of CDH; absence of fetoscopy; absence of karyotype abnormality; maximum of one major malformation associated with diaphragmatic hernia; ultrasound monitoring at the Obstetrics Clinic of Clinicas Hospital at the University of São Paulo School of Medicine, from January 2001 to October 2014...
January 12, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29329412/lhx8-ablation-leads-to-massive-autophagy-of-mouse-oocytes-associated-with-dna-damage
#17
Emanuele Pelosi, Laura D'Ignazio, Marc Michel, Melissa Beyer, Kassimier Thompson, Antonino Forabosco, David Schlessinger
Following proliferation of oogonia in mammals, great numbers of germ cells are discarded, primarily by apoptosis, while the remainder form primordial follicles (the ovarian reserve) that determine fertility and reproductive lifespan. More massive, rapid, and essentially total loss of oocytes, however, occurs when the transcription factor Lhx8 is ablated-though the cause and mechanism of germ cell loss from the Lhx8-/- ovaries has been unknown. We found that Lhx8-/- ovaries maintain the same number of germ cells throughout embryonic development; rapid decrease in the pool of oocytes starts shortly before birth...
January 10, 2018: Biology of Reproduction
https://www.readbyqxmd.com/read/29329291/ovule-identity-mediated-by-pre-mrna-processing-in-arabidopsis
#18
Encarnación Rodríguez-Cazorla, Samanta Ortuño-Miquel, Héctor Candela, Lindsay J Bailey-Steinitz, Martin F Yanofsky, Antonio Martínez-Laborda, Juan-José Ripoll, Antonio Vera
Ovules are fundamental for plant reproduction and crop yield as they are the precursors of seeds. Therefore, ovule specification is a critical developmental program. In Arabidopsis thaliana, ovule identity is redundantly conferred by the homeotic D-class genes SHATTERPROOF1 (SHP1), SHP2 and SEEDSTICK (STK), phylogenetically related to the MADS-domain regulatory gene AGAMOUS (AG), essential in floral organ specification. Previous studies have shown that the HUA-PEP activity, comprised of a suite of RNA-binding protein (RBP) encoding genes, regulates AG pre-mRNA processing and thus flower patterning and organ identity...
January 12, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29329057/chronic-corticosterone-induced-depression-mediates-premature-aging-in-rats
#19
Xiaoxian Xie, Qichen Shen, Lingyan Ma, Yangyang Chen, Binggong Zhao, Zhengwei Fu
BACKGROUND: Stress hormones such as corticosterone (CORT) play an essential role in the development of depression. Chronic CORT administration has been shown to induce dysfunction in the hypothalamic-pituitary-adrenal axis leading to depression, which was in turn associated with accelerated aging. However, the effect of CORT administration on aging remains unclear. METHODS: Rats were acclimatized for 1 week and then injected daily with CORT (40mg/kg) or vehicle (n = 10 each) for 21 consecutive days...
January 2, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29328980/consequence-of-intraventricular-hemorrhage-on-neurovascular-coupling-evoked-by-speech-syllables-in-preterm-neonates
#20
Mahdi Mahmoudzadeh, Ghislaine Dehaene-Lambertz, Guy Kongolo, Marc Fournier, Sabrina Goudjil, Fabrice Wallois
Intraventricular Hemorrhage (IVH) is the leading cause of neurological and cognitive impairment in preterm neonates with an incidence that increases with increasing prematurity. In the present study, we tested how preterm neonates with IVH react to external stimulation (i.e. speech syllables). We compared their neural responses measured by electroencephalography (EEG), and hemodynamic responses measured by functional near-infrared spectroscopy (fNIRS), with those of healthy preterms. A neural response to syllables was observed in these infants, but did not induce a vascular response in contrast with healthy neonates...
January 5, 2018: Developmental Cognitive Neuroscience
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