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https://www.readbyqxmd.com/read/28645073/analysis-of-ldlr-variants-from-homozygous-fh-patients-carrying-multiple-mutations-in-the-ldlr-gene
#1
Long Jiang, Asier Benito-Vicente, Ling Tang, Aitor Etxebarria, Wei Cui, Kepa B Uribe, Xiao-Dong Pan, Helena Ostolaza, Shi-Wei Yang, Yu-Jie Zhou, Cesar Martin, Lu-Ya Wang
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant disease with widespread global prevalence that partially accounts for the high prevalence of premature coronary heart disease. Although the majority of research on FH has focused on single heterozygous LDLR mutations, there have been limited reports of double LDLR mutations on the same chromosome. The aim of this study was to gain insight into the clinical consequences of the presence of multiple mutations in the LDLR gene...
June 8, 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28644831/inflammatory-and-vascular-placental-lesions-are-associated-with-neonatal-amplitude-integrated-eeg-recording-in-early-premature-neonates
#2
Dorit Paz-Levy, Letizia Schreiber, Offer Erez, Sharon Goshen, Justin Richardson, VIadimir Drunov, Orna Staretz Chacham, Eilon Shany
INTRODUCTION: Placental histologic examination can assist in revealing the mechanism leading to preterm birth. Accumulating evidence suggests an association between intrauterine pathological processes, morbidity and mortality of premature infants, and their long term outcome. Neonatal brain activity is increasingly monitored in neonatal intensive care units by amplitude integrated EEG (aEEG) and indices of background activity and sleep cycling patterns were correlated with long term outcome...
2017: PloS One
https://www.readbyqxmd.com/read/28644693/supplemental-oxygen-in-interstitial-lung-disease-an-art-in-need-of-science
#3
Kerri A Johannson, Sachin R Pendharkar, Kirk Mathison, Charlene D Fell, Jordan A Guenette, Meena Kalluri, Martin Kolb, Christopher J Ryerson
Interstitial lung disease (ILD) comprises a large and heterogeneous group of disorders that often lead to progressive fibrosis and premature death. Oxygen supplementation is typically used in advanced lung disease patients with resting hypoxemia; however, there is a paucity of evidence guiding the use of supplemental oxygen in ILD, and significant heterogeneity in clinical practice. It remains unclear whether supplemental oxygen improves clinically meaningful outcomes, and the role of ambulatory oxygen supplementation in isolated exertional hypoxemia is particularly controversial...
June 23, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28644091/prevention-of-cardiovascular-disease-in-patients-with-familial-hypercholesterolaemia-the-role-of-pcsk9-inhibitors
#4
Ivan Pećin, Merel L Hartgers, G Kees Hovingh, Ricardo Dent, Željko Reiner
Familial hypercholesterolaemia is an autosomal dominant inherited disorder characterised by elevated low-density lipoprotein cholesterol levels and consequently an increased risk of atherosclerotic cardiovascular disease (ASCVD). Familial hypercholesterolaemia is relatively common, but is often underdiagnosed and undertreated. Cardiologists are likely to encounter many individuals with familial hypercholesterolaemia; however, patients presenting with premature ASCVD are rarely screened for familial hypercholesterolaemia and fasting lipid levels are infrequently documented...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28642139/clinical-characteristics-and-epidemiology-of-sepsis-in-the-neonatal-intensive-care-unit-in-the-era-of-multi-drug-resistant-organisms-a-retrospective-review
#5
Dawood Yusef, Tala Shalakhti, Samah Awad, Hana'a Algharaibeh, Wasim Khasawneh
BACKGROUND: Sepsis in the neonatal intensive care unit (NICU) remains one of the most significant causes of morbidity and mortality, especially for preterm newborns. Multi-drug resistant organisms (MDROs) are emerging as important pathogens that cause neonatal sepsis in NICU. Therefore, studying the epidemiology, clinical features, and outcome caused by MDROs vs. non-MDROs, and identifying risk factors that may predispose patients to sepsis by MDROs are important. METHODS: Episodes of blood culture-proven sepsis (age: 0-90 days) in the NICU at our institution from January 2012 to December 2015 were retrospectively reviewed...
June 9, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28641304/hyperemesis-gravidarum-a-review-of-recent-literature
#6
Viktoriya London, Stephanie Grube, David M Sherer, Ovadia Abulafia
BACKGROUND: In the United States, hyperemesis gravidarum is the most common cause of hospitalization during the first half of pregnancy and is second only to preterm labor for hospitalizations in pregnancy overall. In approximately 0.3-3% of pregnancies, hyperemesis gravidarum is prevalent and this percentage varies on account of different diagnostic criteria and ethnic variation in study populations. Despite extensive research in this field, the mechanism of the disease is largely unknown...
June 23, 2017: Pharmacology
https://www.readbyqxmd.com/read/28639819/effects-of-caregiving-status-and-changes-in-depressive-symptoms-on-development-of-physical-morbidity-among-long-term-cancer-caregivers
#7
Kelly M Shaffer, Youngmee Kim, Charles S Carver, Rachel S Cannady
OBJECTIVE: Cancer caregiving burden is known to vary across the survivorship trajectory and has been linked with caregivers' subsequent health impairment. Little is known, however, regarding how risk factors during long-term survivorship relate to vulnerability to caregivers' health during that period. This study examined effects of caregiving status and depressive symptoms on development of physical morbidity by 5 years postdiagnosis. METHOD: Family caregivers (N = 491; Mage = 55...
June 22, 2017: Health Psychology: Official Journal of the Division of Health Psychology, American Psychological Association
https://www.readbyqxmd.com/read/28639143/quality-of-life-after-carotid-endarterectomy-a-review-of-the-literature
#8
REVIEW
Mariusz Chabowski, Anna Grzebien, Agnieszka Ziomek, Karolina Dorobisz, Michał Leśniak, Dariusz Janczak
Strokes are one of the leading causes of death, morbidity, and disability worldwide, mainly among elderly people. It is also the third most common cause of years of life being lost, indicating a high risk of premature mortality. Revascularisation with endarterectomy (CEA) is effective in reducing the risk of death and strokes in patients with carotid artery stenosis, but the effect of invasive treatment on quality of life (QoL) still needs attention. To shed more light on the patients' perspective on this health condition, we carried out a review of the literature which aimed to analyze the level of health-related QoL among stroke survivors, with special attention to patients who had been treated with CEA...
June 21, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28637734/pregnancy-specific-stress-fetoplacental-haemodynamics-and-neonatal-outcomes-in-women-with-small-for-gestational-age-pregnancies-a-secondary-analysis-of-the-multicentre-prospective-observational-trial-to-optimise-paediatric-health-in-intrauterine-growth-restriction
#9
Terri A Levine, Ruth E Grunau, Ricardo Segurado, Sean Daly, Michael P Geary, Mairead M Kennelly, Keelin O'Donoghue, Alyson Hunter, John J Morrison, Gerard Burke, Patrick Dicker, Elizabeth C Tully, Fergal D Malone, Fiona A Alderdice, Fionnuala M McAuliffe
OBJECTIVES: To examine associations between maternal pregnancy-specific stress and umbilical (UA PI) and middle cerebral artery pulsatility indices (MCA PI), cerebroplacental ratio, absent end diastolic flow (AEDF), birthweight, prematurity, neonatal intensive care unit admission and adverse obstetric outcomes in women with small for gestational age pregnancies. It was hypothesised that maternal pregnancy-specific stress would be associated with fetoplacental haemodynamics and neonatal outcomes...
June 21, 2017: BMJ Open
https://www.readbyqxmd.com/read/28637222/risk-factors-for-the-development-of-delayed-tsh-elevation-in-neonatal-intensive-care-unit-nicu-newborns
#10
Amnon Zung, Rachel Bier Palmon, Agneta Golan, Mara Troitzky, Smadar Eventov-Friedman, Ronella Marom, Rimona Keidar, Neri Kats, Shlomo Almashanu, Orna Flidel-Rimon
Context: Delayed TSH elevation (dTSH) is defined as elevated TSH in the second neonatal screen (following normal TSH in the initial screen) in premature, low-birth-weight and sick newborns, mostly in the neonatal intensive care unit (NICU) setting. The pathogenesis of dTSH is elusive. Objective: To identify risk factors for dTSH development among newborns in the NICU. Design: setting and patients: A retrospective chart review of neonates with dTSH was conducted in eight university-affiliated NICUs...
June 20, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28636076/prevalence-and-impact-of-obesity-in-people-with-haemophilia-review-of-literature-and-expert-discussion-around-implementing-weight-management-guidelines
#11
REVIEW
S Kahan, A Cuker, R F Kushner, J Maahs, M Recht, T Wadden, T Willis, S Majumdar, D Ungar, D Cooper
Obesity affects more than 35% of Americans, increasing the risk of more than 200 comorbid conditions, impaired quality of life and premature mortality. This review aimed to summarize literature published over the past 15 years regarding the prevalence and impact of obesity in people with haemophilia (PWH) and to discuss implementing general guidelines for weight management in the context of the haemophilia comprehensive care team. Although few studies have assessed the effects of obesity on haemophilia-specific outcomes, existing evidence indicates an important impact of weight status on lower extremity joint range of motion and functional disability, with potentially important effects on overall quality of life...
June 21, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28631494/a-study-on-preterm-births-during-2013-2015-shiraz-iran
#12
Elham Jaberi, Mirkazemi Roksana
Preterm birth is the leading cause of neonatal and infant mortality and a substantial portion of neonatal morbidities. The perinatal mortality and morbidity statistics in developing countries are inadequate. In this study, we assessed prevalence and health outcomes of preterm deliveries in tertiary care university hospitals. A retrospective study of hospital records of premature babies born in all the five governmental tertiary care settings during the time interval of 2013-2015 in Shiraz was conducted. Result of this study showed that there was an overall 127...
June 20, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28628773/temperament-and-behavior-in-toddlers-born-preterm-with-related-clinical-problems
#13
Rafaela Guilherme Monte Cassiano, Claudia Maria Gaspardo, Ricardo Augusto de Deus Faciroli, Francisco Eulógio Martinez, Maria Beatriz Martins Linhares
OBJECTIVE: The aim of this study was to compare temperament and behavior profiles among groups of preterm toddlers differentiated by level of prematurity and the presence of bronchopulmonary dysplasia (BPD) or retinopathy of prematurity (ROP), controlling for neonatal clinical conditions and chronological age. METHOD: The sample comprised 100 preterm toddlers segregated according to level of prematurity (75 very preterm and 25 moderate/late preterm) and presence of BPD (n=36) and ROP (n=63)...
June 16, 2017: Early Human Development
https://www.readbyqxmd.com/read/28627083/a-review-of-important-eeg-features-for-the-assessment-of-brain-maturation-in-premature-infants
#14
REVIEW
Elena Pavlidis, Rhodri O Lloyd, Sean Mathieson, Geraldine B Boylan
This review describes the maturational features of the baseline electroencephalogram (EEG) in the neurologically healthy preterm infant. Features such as continuity, sleep state, synchrony and transient waveforms are described, even from extremely preterm infants and includes abundant illustrated examples. The physiological significance of these EEG features and their relationship to neurodevelopment is highlighted where known. This review also demonstrates the importance of multichannel conventional EEG monitoring for preterm infants as many of the features described are not apparent if limited channel EEG monitors are used...
June 18, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28626334/effect-of-neuro-development-treatment-on-motor-development-in-preterm-infants
#15
Eun-Ju Lee
[Purpose] To investigate the effects of Neuro-Development Treatment on development in the preterm infants. [Subjects and Methods] A total of 96 premature infants were recruited for this study; 62 low birth weight preterm infants (<2.5 kg, high risk infants for developmental delay) and 34 premature infants (>2.5 kg, low risk infants for developmental delay). High risk infants were divided into intervention group (32 infants) and control group (30 infants) at time of admission. Low risk infants were into comparative group (34 infants)...
June 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28623672/craniosynostosis-recognition-clinical-characteristics-and-treatment
#16
REVIEW
Nina Kajdic, Peter Spazzapan, Tomaz Velnar
Craniosynostosis is a developmental craniofacial anomaly, resulting in impairment of brain development and abnormally shaped skull. The main cause of craniosynostosis is premature closure of one or more cranial sutures. It usually occurs as an isolated condition, but may also be associated with other malformations as part of complex syndromes. When left untreated, craniosynostosis can cause serious complications, such as developmental delay, facial abnormality, sensory, respiratory and neurological dysfunction, anomalies affecting the eye, and psychological disturbances...
June 17, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28622754/prevalence-of-non-infectious-comorbidities-in-the-hiv-positive-population-in-belgium-a-multicenter-retrospective-study
#17
Jessie Gunter, Steven Callens, Stephane De Wit, Jean-Christophe Goffard, Michel Moutschen, Gilles Darcis, Christelle Meuris, Charlotte van den Bulcke, Karine Fombellida, Marc Del Forge, Homie Razavi, Chloe Wyndham-Thomas
OBJECTIVES: In Belgium, eleven AIDS Reference Centers (ARCs) and seven AIDS Reference Laboratories diagnose and treat HIV-positive individuals and track patients under care. As AIDS-related deaths are avoided and the HIV-positive population ages, non-infectious comorbidities (NICMs), such as cardiovascular disease, renal disease and certain cancers, play a larger role in the quality and length of patients' lives. This study aims to characterize the HIV-positive population in Belgium in terms of the prevalence of key NICMs...
June 16, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/28622635/management-of-parturients-with-factor-xi-deficiency-10year-case-series-and-review-of-literature
#18
REVIEW
Lynda Verghese, Efterpi Tingi, Jecko Thachil, Charles Hay, Louise Byrd
This is an article reviewing the management of pregnant women with factor XI (FXI) deficiency. Retrospective review of the electronic records of 67 pregnancies in 25 women with FXI deficiency over a ten-year period was undertaken. All women received care at St Mary's Tertiary Referral Obstetric/Haematology Clinic for some or all of their pregnancies. Outcome measures included antenatal complications, mode of delivery, anaesthesia provided and postpartum haemorrhage (PPH) and management required. A positive bleeding history was identified in 50% of women prior to pregnancy...
June 6, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28619766/diagnostic-performance-of-an-automatic-blood-pressure-measurement-device-microlife-watchbp-home-a-for-atrial-fibrillation-screening-in-a-real-world-primary-care-setting
#19
Pak-Hei Chan, Chun-Ka Wong, Louise Pun, Yu-Fai Wong, Michelle Man-Ying Wong, Daniel Wai-Sing Chu, Chung-Wah Siu
OBJECTIVE: To evaluate the diagnostic performance of a UK National Institute for Health and Care Excellence-recommended automatic oscillometric blood pressure (BP) measurement device incorporated with an atrial fibrillation (AF) detection algorithm (Microlife WatchBP Home A) for real-world AF screening in a primary healthcare setting. SETTING: Primary healthcare setting in Hong Kong. INTERVENTIONS: This was a prospective AF screening study carried out between 1 September 2014 and 14 January 2015...
June 15, 2017: BMJ Open
https://www.readbyqxmd.com/read/28619405/treating-childhood-malnutrition-in-rural-haiti-program-outcomes-and-obstacles
#20
C Nicholas Cuneo, Emily Dansereau, Anand R Habib, Mary Davies, Samuel Ware, Kenneth Kornetsky
BACKGROUND: Haiti has the worst malnutrition rate in the Western hemisphere. In October 2010, a cholera epidemic erupted and spread rapidly throughout the country, straining Haiti's already fragile health infrastructure across all levels of care. This study reviews data from an outpatient therapeutic feeding program (OTP) for acute childhood malnutrition at a clinic in rural Haiti with a focus on the effect of the 2010 cholera epidemic on program operations. METHODS: A retrospective chart review was conducted for the complete set of patients who were enrolled in the OTP from its inception in March 2009 through January 2014...
March 2017: Annals of Global Health
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