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causes of prematurity

Despina Apostolopoulou, Olga S Kaxira, Angeliki Hatzaki, Kanaris P Panagopoulos, Konstantinos Alexandrou, Alexander Stratoudakis, Panagoula Kollia, Vassiliki Aleporou
INTRODUCTION: Craniosynostosis, the premature fusion of cranial sutures, is usually divided into 2 major categories: syndromic and nonsyndromic. Mutations in the FGFR1, FGFR2, FGFR3, TWIST1, and EFNB1 genes cause the common craniosynostosis syndromes Muenke, Crouzon and Crouzon with acanthosis nigricans, Apert, Pfeiffer, Saethre-Chotzen, and Craniofrontonasal. Overlapping features among craniosynostosis syndromes, phenotypic heterogeneity even within the same syndrome, especially in the case of Muenke syndrome, and inadequate clinical evaluation can lead to misdiagnosis, which molecular testing can help clarify...
January 1, 2018: Cleft Palate-craniofacial Journal
Agnes Bosch, Johannes B Scheppach, Joanna M Harazny, Ulrike Raff, Kai-Uwe Eckardt, Roland E Schmieder, Markus P Schneider
RATIONALE: Premature cardiovascular disease is a leading cause of death in patients with chronic kidney disease (CKD). In animal models CKD has been shown to cause renal and extrarenal vascular remodeling and capillary rarefaction, but data in humans with CKD are sparse. Retinal arteriolar wall-to-lumen ratio (WLR) is an established marker of early end-organ damage and there is evidence that arteriolar and capillary changes in the retinal circulation mirror those in the general and in particular the cerebrovascular microcirculation...
March 17, 2018: Microvascular Research
Cristina Guillín-Amarelle, Antía Fernández-Pombo, Sofía Sánchez-Iglesias, David Araújo-Vilar
The nuclear lamina is a complex reticular structure that covers the inner face of the nucleus membrane in metazoan cells. It is mainly formed by intermediate filaments called lamins, and exerts essential functions to maintain the cellular viability. Lamin A/C provides mechanical steadiness to the nucleus and regulates genetic machinery. Laminopathies are tissue-specific or systemic disorders caused by variants in LMNA gene (primary laminopathies) or in other genes encoding proteins which are playing some role in prelamin A maturation or in lamin A/C function (secondary laminopathies)...
March 20, 2018: Nucleus
Stanislav Lazarev, Vishal Gupta, Zahra Ghiassi-Nejad, Brett Miles, Bethann Scarborough, Krzysztof J Misiukiewicz, Batya Reckson, Ren-Dih Sheu, Richard L Bakst
Purpose: Factors related to premature discontinuation of curative radiation therapy (PDCRT) are understudied. This study aimed to examine causes and clinical outcomes of PDCRT at our institution by investigating the most common anatomical site associated with PDCRT. Methods and materials: Among the 161 patients with PDCRT of various anatomic sites at our institution between 2010 and 2017, 36% received radiation to the head and neck region. Pertinent demographic, clinical, and treatment-related data on these 58 patients were collected...
January 2018: Advances in Radiation Oncology
Olivier Nardi, Elizabeth Zavala, Claude Martin, Serafim Nanas, Thomas Scheeren, Andrea Polito, Xavi Borrat, Djillali Annane
OBJECTIVE: Evaluation of the ratio of oxyhaemoglobin to total haemoglobin in skeletal muscle (StO2 ) using near-infrared spectroscopy may aid in the monitoring of patients with sepsis. This study assessed the benefits and risks of targeting StO2 in adults with severe sepsis or septic shock. DESIGN: A European randomised controlled trial was performed on two parallel groups. SETTING: Five intensive care units (ICU) in France, Greece, Spain and Germany were used for the study...
March 19, 2018: BMJ Open
Jenifer K McIntyre, Jessica I Lundin, James R Cameron, Michelle I Chow, Jay W Davis, John P Incardona, Nathaniel L Scholz
Adult coho salmon (Oncorhynchus kisutch) prematurely die when they return from the ocean to spawn in urban watersheds throughout northwestern North America. The available evidence suggests the annual mortality events are caused by toxic stormwater runoff. The underlying pathophysiology of the urban spawner mortality syndrome is not known, and it is unclear whether closely related species of Pacific salmon are similarly at risk. The present study co-exposed adult coho and chum (O. keta) salmon to runoff from a high traffic volume urban arterial roadway...
March 16, 2018: Environmental Pollution
Deirdre M J Walsh, Kieran Moran, Veronique Cornelissen, Roselien Buys, Jomme Claes, Paolo Zampognaro, Fabio Melillo, Nicos Maglaveras, Ioanna Chouvarda, Andreas Triantafyllidis, Dimitris Filos, Catherine B Woods
Cardiovascular diseases (CVDs) are a leading cause of premature death worldwide. International guidelines recommend routine delivery of all phases of cardiac rehabilitation (CR). Uptake of traditional CR remains suboptimal, as attendance at formal hospital-based CR programs is low, with community-based CR rates and individual long-term exercise maintenance even lower. Home-based CR programs have been shown to be equally effective in clinical and health-related quality of life outcomes and yet are not readily available...
March 15, 2018: Translational Behavioral Medicine
John R Weinstein, Lisa M Thompson, Anaité Díaz Artiga, Joe P Bryan, William E Arriaga, Saad B Omer, John P McCracken
BACKGROUND: Preterm birth is the leading cause of death among children <5 years of age. Accurate determination of prematurity is necessary to provide appropriate neonatal care and guide preventive measures. To estimate the most accurate method to identify infants at risk for adverse outcomes, we assessed the validity of two widely available methods-last menstrual period (LMP) and the New Ballard (NB) neonatal assessment-against ultrasound in determining gestational age and preterm birth in highland Guatemala...
2018: PloS One
Filiz Mine Çizmecioğlu, Jeremy Huw Jones, Wendy Forsyth Paterson, Sakina Kherra, Mariam Kourime, Ruth McGowan, M Guftar Shaikh, Malcolm Donaldson
OBJECTIVE: Early diagnosis is of proven benefit in Prader-Willi syndrome (PWS). We therefore examined key perinatal features to aid early recognition. METHODS: Data were collected from case records of subjects attending a multi-disciplinary clinic and from a retrospective birth questionnaire. RESULTS: Ninety patients (54 male: 36 female) were seen between 1991-2015, most with paternal deletion (n=56) or maternal isodisomy (n=26). Features included cryptorchidism in 94% males, preterm birth (26%), birthweight <2500g (24%), polyhydramnios (23%), breech presentation (23%) and need for nasogastric feeding (83%)...
March 19, 2018: Journal of Clinical Research in Pediatric Endocrinology
Jiemin Ma, Rebecca L Siegel, Eric J Jacobs, Ahmedin Jemal
INTRODUCTION: Contemporary state-specific estimates of mortality caused by cigarette smoking are important for tobacco control advocacy and healthcare planning in the U.S., but are currently lacking. METHODS: The population-attributable fraction (i.e., proportion of deaths in the population caused by smoking), number of deaths, and number of years of potential life lost because of active cigarette smoking were estimated for each state based on state-specific smoking prevalence data from the 2014 Behavioral Risk Factor Surveillance System, recently updated relative risks of smoking, and numbers of deaths from smoking-attributable diseases...
March 15, 2018: American Journal of Preventive Medicine
Kana R Jat, Dinesh K Walia, Anju Khairwa
BACKGROUND: Cystic fibrosis is an autosomal recessive multisystem disorder with an approximate prevalence of 1 in 3500 live births. Allergic bronchopulmonary aspergillosis is a lung disease caused by aspergillus-induced hypersensitivity with a prevalence of 2% to 15% in people with cystic fibrosis. The mainstay of treatment includes corticosteroids and itraconazole. The treatment with corticosteroids for prolonged periods of time, or repeatedly for exacerbations of allergic bronchopulmonary aspergillosis, may lead to many adverse effects...
March 18, 2018: Cochrane Database of Systematic Reviews
Rachael F Grace, Paola Bianchi, Eduard J van Beers, Stefan W Eber, Bertil Glader, Hassan M Yaish, Jenny M Despotovic, Jennifer A Rothman, Mukta Sharma, Melissa M McNaull, Elisa Fermo, Kimberly Lezon-Geyda, D Holmes Morton, Ellis J Neufeld, Satheesh Chonat, Nina Kollmar, Christine M Knoll, Kevin Kuo, Janet L Kwiatkowski, Dagmar Pospíŝilová, Yves D Pastore, Alexis A Thompson, Peter E Newburger, Yaddanapudi Ravindranath, Winfred C Wang, Marcin W Wlodarski, Heng Wang, Susanne Holzhauer, Vicky R Breakey, Joachim Kunz, Sujit Sheth, Melissa J Rose, Heather A Bradeen, Nolan Neu, Dongjing Guo, Hasan Al-Sayegh, Wendy B London, Patrick G Gallagher, Alberto Zanella, Wilma Barcellini
An international, multicenter registry was established to collect retrospective and prospective clinical data on patients with pyruvate kinase (PK) deficiency, the most common glycolytic defect causing congenital non-spherocytic hemolytic anemia. Medical history and laboratory and radiologic data were retrospectively collected at enrollment in 254 patients with molecularly confirmed PK deficiency. Perinatal complications were common, including anemia requiring transfusions, hyperbilirubinemia, hydrops, and prematurity...
March 16, 2018: Blood
Peijuan Wang, Yan Lu, Si Chen, Yue Chen, Chunping Hu, Yawei Zuo
Autoimmune abnormality is one of the main causes of premature ovarian failure (POF). Bu Shen Huo Xue formula (BSHXF), a traditional Chinese medicine formula, has been clinically used for the treatment of patients with POF in China. Regulatory T cells (Tregs) are important in the pathogenesis of autoimmune POF. The aim of the present study was to evaluate the immunoprotective effects of BSHXF on POF and the underlying mechanisms. An experimental autoimmune POF model was induced in B6AF1 mice with zona pellucida 3 (ZP3) fragments...
April 2018: Experimental and Therapeutic Medicine
Martha P Romero Mendoza, Héctor Gómez-Dantes, Quetzaliztli Manríquez Montiel, Gabriela J Saldívar Hernández, Julio C Campuzano Rincón, Rafael Lozano, María Elena Medina-Mora Icaza
The increasing burden of interpersonal violence in women in Mexico is a neglected social and health problem that competes with other leading causes of premature death, disability, and health losses in young women. In this article, we focus on revealing the burden of violence in girls and young women and its implications for public policy. This study presents the subnational analysis of Mexico from the Global Burden of Disease study (1990-2015). The global study harmonized information of 195 countries and 79 risk factors...
March 1, 2018: Journal of Interpersonal Violence
Ceren D Durmaz, Gareth Evans, Miriam J Smith, Pelin Ertop, Bengü N Akay, Timur Tuncalı
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst...
March 16, 2018: Cytogenetic and Genome Research
Yudi Geng, Qiaohong Lai, Yang Xun, Lei Jin
OBJECTIVE: To explore factors causing a premature rise in luteinizing hormone among high ovarian responders undergoing the gonadotropin-releasing hormone (GnRH) antagonist ovarian stimulation protocol. METHODS: The present retrospective study included healthy women undergoing fresh cycles using a fixed GnRH antagonist protocol with a predicted high response and antral follicle count (AFC) of at least 15 at the Reproductive Medicine Center of Tongji Hospital, China, between January 1 and December 31, 2016...
March 15, 2018: International Journal of Gynaecology and Obstetrics
Alireza Sadeghnia, Behzad Koorang Beheshti, Majid Mohammadizadeh
Background: Considering all the latest achievements in neonatal respiratory care, bronchopulmonary dysplasia (BPD) is still among the most prevalent morbidity causes in premature infants. Involvement in this process results in longer period of hospitalization for the newborn and in the long run makes the living conditions more difficult. Taking the multifactorial pathogenesis into account, approaches to tackle chronic lung disease (CLD) are mainly focused on interventions and prevention procedures...
2018: International Journal of Preventive Medicine
Ganga Anil Kumar, Kuppuswamy Subramaniam
Pairing of homologous chromosomes is essential for genetic recombination during gametogenesis. In many organisms, chromosome ends are attached to cytoplasmic dynein, and dynein-driven chromosomal movements facilitate the pairing process. Factors that promote / control the cytoskeletal tethering of chromosomes are largely unknown. Here, we show that the conserved RNA-binding protein PUF-8 facilitates the tethering and pairing processes in the C. elegans germline by promoting proteasome activity. We have isolated a hypomorphic allele of pas-1 , which encodes a proteasome core subunit, and find that the homologous chromosomes fail to pair in the puf-8; pas-1 double mutant due to failure of chromosome tethering...
March 14, 2018: Development
Thenappan Thenappan, Mark L Ormiston, John J Ryan, Stephen L Archer
Pulmonary hypertension is defined as a resting mean pulmonary artery pressure of 25 mm Hg or above. This review deals with pulmonary arterial hypertension (PAH), a type of pulmonary hypertension that primarily affects the pulmonary vasculature. In PAH, the pulmonary vasculature is dynamically obstructed by vasoconstriction, structurally obstructed by adverse vascular remodeling, and pathologically non-compliant as a result of vascular fibrosis and stiffening. Many cell types are abnormal in PAH, including vascular cells (endothelial cells, smooth muscle cells, and fibroblasts) and inflammatory cells...
March 14, 2018: BMJ: British Medical Journal
Anna Schneider, Edda Hofstätter, Johannes Brandner, Angelika Moder, Silke Häusler, Martin Wald
BACKGROUND: Using near-infrared spectroscopy (NIRS) mixed tissue saturation can be calculated by measuring the oxygen saturation of oxygenated and deoxygenated erythrocytes in the tissue. Quality of the calculated value is not only dependent on the exposure of the measured values in the calculation, but also on external factors such as artifacts. Main object of this study was to determine whether and how the measurement quality of different devices varies in their long-term use in premature infants...
March 14, 2018: Klinische Pädiatrie
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