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https://www.readbyqxmd.com/read/27933671/causal-inference-in-obesity-research
#1
REVIEW
P W Franks, N Atabaki-Pasdar
Obesity is a risk factor for a plethora of severe morbidities and premature death. Most supporting evidence comes from observational studies that are prone to chance, bias and confounding. Even data on the protective effects of weight loss from randomized controlled trials will be susceptible to confounding and bias if treatment assignment cannot be masked, which is usually the case with lifestyle and surgical interventions. Thus, whilst obesity is widely considered the major modifiable risk factor for many chronic diseases, its causes and consequences are often difficult to determine...
December 8, 2016: Journal of Internal Medicine
https://www.readbyqxmd.com/read/27933557/atypical-presentation-and-treatment-response-in-a-child-with-familial-hypercholesterolemia-having-a-novel-ldlr-mutation
#2
S Varma, A D McIntyre, R A Hegele
Familial hypercholesterolemia (FH) is an autosomal codominantly inherited disease. The severity of clinical presentation depends on the zygosity of the mutations in the LDLR, APOB, or PCSK9 genes. The homozygous form (HoFH) is associated with high mortality rate by third decade of life, while individuals with HeFH begin to suffer from premature cardiovascular disease in fourth or fifth decade of life. Statin drugs have helped to improve the biochemical profile and life expectancy in HeFH, while they are only minimally effective in HoFH...
December 9, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27933238/high-particulate-matter-emission-from-additive-free-natural-american-spirit-cigarettes
#3
Yvonne Iffland, Ruth Müller, David Groneberg, Alexander Gerber
BACKGROUND: Involuntary exposure to health-threatening environmental tobacco smoke (Combined Mainstream and Side-stream Smoke, CMSS) is a worldwide problem, causing premature death of thousands of people. CMSS consists of particulate matter (PM), one of the main sources of indoor air pollution. PM constitutes a considerable health risk for passive smokers. It is important to inform the public about brand-specific differences in CMSS-associated PM, especially in the case of brands without additives, which are therefore promoted as natural and less health-threatening...
2016: SpringerPlus
https://www.readbyqxmd.com/read/27932480/magi2-mutations-cause-congenital-nephrotic-syndrome
#4
Agnieszka Bierzynska, Katrina Soderquest, Philip Dean, Elizabeth Colby, Ruth Rollason, Caroline Jones, Carol D Inward, Hugh J McCarthy, Michael A Simpson, Graham M Lord, Maggie Williams, Gavin I Welsh, Ania B Koziell, Moin A Saleem
Steroid-resistant nephrotic syndrome (SRNS), a heterogeneous disorder of the renal glomerular filtration barrier, results in impairment of glomerular permselectivity. Inheritance of genetic SRNS may be autosomal dominant or recessive, with a subset of autosomal recessive SRNS presenting as congenital nephrotic syndrome (CNS). Mutations in 53 genes are associated with human SRNS, but these mutations explain ≤30% of patients with hereditary cases and only 20% of patients with sporadic cases. The proteins encoded by these genes are expressed in podocytes, and malfunction of these proteins leads to a universal end point of podocyte injury, glomerular filtration barrier disruption, and SRNS...
December 8, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27931859/contemporary-trends-in-the-management-and-outcomes-of-patients-with-familial-hypercholesterolemia-in-canada-a%C3%A2-prospective-observational-study
#5
Liam R Brunham, Lubomira Cermakova, Terry Lee, Ida Priecelova, Karine Alloul, Marilyn de Chantal, Gordon A Francis, Jiri Frohlich
BACKGROUND: Heterozygous familial hypercholesterolemia (HeFH) is one of the most common genetic diseases in the world and an important cause of premature cardiovascular (CV) disease. The purpose of this study was to characterize the clinical features, current treatment patterns, and CV outcomes of patients with HeFH in British Columbia, Canada. METHODS: We conducted a longitudinal observational study of patients with HeFH attending a specialized lipid clinic. We collected data on lipid levels, medication use, and CV events at baseline and last follow-up...
September 3, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/27931782/radiographic-presentation-of-musculoskeletal-involvement-in-werner-syndrome-adult-progeria
#6
A David, M Vincent, P P Arrigoni, S Barbarot, M A Pistorius, B Isidor, E Frampas
Werner syndrome (i.e., adult progeria) is a rare autosomal recessive disorder caused by mutations of the WRN gene, which is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Patients with Werner syndrome can present with musculoskeletal complaints, associated with suggestive radiographic features with a potential prognostic or therapeutic impact. This review illustrates the main radiographic features of Werner syndrome, focusing on the musculoskeletal system, such as soft-tissue calcification, muscular atrophy, osteoporosis, foot deformities, osteitis and osteomyelitis, and bone or soft-tissues malignancies...
December 5, 2016: Diagnostic and Interventional Imaging
https://www.readbyqxmd.com/read/27931595/transcatheter-closure-of-patent%C3%A2-ductus%C3%A2-arteriosus-in-extremely%C3%A2-premature%C3%A2-newborns-early-results-and-midterm-follow-up
#7
Evan M Zahn, Daniel Peck, Alistair Phillips, Phillip Nevin, Kaylan Basaker, Charles Simmons, Marion E McRae, Tracy Early, Ruchira Garg
OBJECTIVES: The goal of this study was to describe early and midterm outcomes of extremely premature newborns (EPNs) who underwent transcatheter echocardiographically guided patent ductus arteriosus (PDA) closure. BACKGROUND: Surgical ligation of PDA in EPNs confers significant risk for procedural morbidity and adverse long-term outcomes. METHODS: The Amplatzer Vascular Plug II was used in all cases. Post-ligation syndrome was defined using previously published parameters...
December 12, 2016: JACC. Cardiovascular Interventions
https://www.readbyqxmd.com/read/27931582/liver-transplantation-for-hepatitis-b-in-early-adulthood-analysis-of-the-united-network-for-organ-sharing-database
#8
G Rifai, A Anani, I A Hanouneh, B Mohamad, A Matloob, R Lopez, N N Zein, N Alkhouri
BACKGROUND: Chronic hepatitis B virus (HBV) infection has a mild course in most children that may delay initiation of treatment even when indicated. Unfortunately, a small number of cases can progress rapidly to cirrhosis, which may require liver transplantation (LT) in early adulthood. The aim of this study was to assess the characteristics of HBV-positive young adults who received LT and to evaluate post-transplant outcomes including patient and graft survival and differences between pre- and post-implementation of Model for End-stage Liver Disease (MELD) prioritization...
December 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27931036/clinical-exome-sequencing-reveals-mkrn3-pathogenic-variants-in-familial-and-nonfamilial-idiopathic-central-precocious-puberty
#9
Nelmar Valentina Ortiz-Cabrera, Rosa Riveiro-Álvarez, Miguel Ángel López-Martínez, Pilar Pérez-Segura, Isabel Aragón-Gómez, María José Trujillo-Tiebas, Leandro Soriano-Guillén
BACKGROUND/AIMS: Idiopathic central precocious puberty (ICPP) is the premature activation of the hypothalamic-pituitary-gonadal axis in the absence of organic disease. Up to now, just gain-of-function mutations of KISS1/KISS1R and loss-of-function mutations of the maternally imprinted gene MKRN3 are the known genetic causes of ICPP. Our intention is to evaluate variants present in genes related to the pubertal onset pathway that could act as disease-causing or predisposing variants. METHODS: We studied the clinical exome of 20 patients diagnosed with ICPP using the Illumina platform...
December 9, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27930667/protein-phosphatase-6-protects-prophase-i-arrested-oocytes-by-safeguarding-genomic-integrity
#10
Meng-Wen Hu, Tie-Gang Meng, Zong-Zhe Jiang, Ming-Zhe Dong, Heide Schatten, Xingzhi Xu, Zhen-Bo Wang, Qing-Yuan Sun
Mammalian oocytes are arrested at prophase of the first meiotic division in the primordial follicle pool for months, even years, after birth depending on species, and only a limited number of oocytes resume meiosis, complete maturation, and ovulate with each reproductive cycle. We recently reported that protein phosphatase 6 (PP6), a member of the PP2A-like subfamily, which accounts for cellular serine/threonine phosphatase activity, functions in completing the second meiosis. Here, we generated mutant mice with a specific deletion of Ppp6c in oocytes from the primordial follicle stage by crossing Ppp6cF/F mice with Gdf9-Cre mice and found that Ppp6cF/F; GCre+ mice are infertile...
December 8, 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27929529/utility-of-a-precursor-to-product-ratio-in-the-evaluation-of-presumptive-positives-in-newborn-screening-of-congenital-adrenal-hyperplasia
#11
P Y Tieh, J K Yee, R A Hicks, C S Mao, W-Np Lee
OBJECTIVE: Screening for congenital adrenal hyperplasia (CAH) caused by 21-α-hydroxylase deficiency is challenging because factors such as prematurity and stress increase intermediate steroid metabolite levels in newborn infants. The objective of this study was to explore the use of the 17-α-hydroxyprogesterone (17-OHP)/11-deoxycortisol ratio as an adjunct measure in the follow-up evaluation of infants with presumptive positive newborn screens for CAH to distinguish between infants with no disorder and those with CAH...
December 8, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27928077/prevention-of-early-mortality-by-presumptive-tuberculosis-therapy-study-an-open-label-randomized-controlled-trial
#12
Yukari C Manabe, William Worodria, Frank van Leth, Harriet Mayanja-Kizza, Afsatou Ndama Traore, Josefo Ferro, Nadine Pakker, Matthias Frank, Martin P Grobusch, Robert Colebunders, Frank Cobelens
Early mortality after initiation of antiretroviral therapy (ART) occurs in 9-39% of patients in sub-Saharan Africa. A significant proportion of deaths are attributable to tuberculosis (TB). Low baseline CD4 T-cell count and low body mass index (BMI) are strongly associated with early mortality. We hypothesized that initiation of ART concurrent with presumptive anti-TB chemotherapy in high-risk patients would reduce mortality within the first 6 months by treating unrecognized TB. From October 2011 to December 2012, ART-naive, smear-negative participants with a CD4 T-cell count < 50 cells/μL and BMI < 18 kg/m(2) were randomly assigned to undergo either empiric four-drug anti-TB treatment followed 2 weeks later by efavirenz-based ART (N = 23) (ART + TB) or ART only (N = 20)...
December 7, 2016: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/27926853/a-dynamical-threshold-for-cardiac-delayed-afterdepolarization-mediated-triggered-activity
#13
Michael B Liu, Christopher Y Ko, Zhen Song, Alan Garfinkel, James N Weiss, Zhilin Qu
Ventricular myocytes are excitable cells whose voltage threshold for action potential (AP) excitation is ∼-60 mV at which INa is activated to give rise to a fast upstroke. Therefore, for a short stimulus pulse to elicit an AP, a stronger stimulus is needed if the resting potential lies further away from the INa threshold, such as in hypokalemia. However, for an AP elicited by a long duration stimulus or a diastolic spontaneous calcium release, we observed that the stimulus needed was lower in hypokalemia than in normokalemia in both computer simulations and experiments of rabbit ventricular myocytes...
December 6, 2016: Biophysical Journal
https://www.readbyqxmd.com/read/27926491/early-pathogenic-event-of-alzheimer-s-disease-documented-in-ipscs-from-patients-with-psen1-mutations
#14
Juan Yang, Hanzhi Zhao, Yu Ma, Guilai Shi, Jian Song, Yu Tang, Song Li, Ting Li, Nan Liu, Fan Tang, Junjie Gu, Lingling Zhang, Zhuohua Zhang, Xiaohui Zhang, Ying Jin, Weidong Le
Alzheimer's disease (AD) is the most common age-related dementia characterized by progressive neuronal loss. However, the molecular mechanisms for the neuronal loss is still debated. Here, we used induced pluripotent stem cells (iPSCs) derived from somatic cells of familial AD patients carrying PSEN1 mutations to study the early pathogenic event of AD. We found that premature neuronal differentiation with decreased proliferation and increased apoptosis occured in AD-iPSC-derived neural progenitor cells (AD-NPCs) once neuronal differentiation was initiated, together with higher levels of Aβ42 and phosphorylated tau...
December 2, 2016: Oncotarget
https://www.readbyqxmd.com/read/27924651/caffeine-combined-with-sedative-anesthetic-drugs-triggers-widespread-neuroapoptosis-in-a-mouse-model-of-prematurity
#15
Omar Hoseá Cabrera, Shawn David O'Connor, Brant Stephen Swiney, Patricia Salinas-Contreras, Francesca Maria Manzella, George Townsend Taylor, Kevin Kiyoshi Noguchi
OBJECTIVES: Caffeine (CAF) and sedative/anesthetic drugs (SADs) are often coadministered to premature infants in the neonatal intensive care unit (NICU). While SAD neurotoxicity in the developing brain is well established, it is not fully clear whether CAF interacts with SADs and whether this interaction is detrimental. Using a mouse model of prematurity, we hypothesized that CAF would increase apoptotic neurotoxicity when coadministered with SADs. METHODS: Postnatal day 3 mice were treated with vehicle or 80 mg/kg CAF prior to challenge with 6 mg/kg midazolam, 40 mg/kg ketamine, or 40 μg/kg fentanyl...
December 7, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27924176/our-clinical-experience-of-self-expanding-metal-stent-for-malignant-central-airway-obstruction
#16
Akash Verma, Chee Kiang Phua, Qiu Mei Wu, Wen Yuan Sim, Audrey Wee Chuan Rui, Soon Keng Goh, Benjamin Ho, Ai Ching Kor, Andrew S Y Wong, Albert Y H Lim, Dessmon Y H Tai, John Abisheganaden
BACKGROUND: We studied the safety, effectiveness, and limitations of airway stenting using self-expanding metal stent (SEMS) in patients with malignant central airway obstruction (CAO). METHODS: A retrospective review of records of patients undergoing SEMS placement for malignant CAO during year 2013 - 2014 was done. RESULTS: Sixteen patients (11 males and five females) underwent SEMS placement for malignant CAO. Median (range) age was 66 (54 - 78) years...
January 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/27922286/central-pontine-myelinolysis-during-pregnancy-pathogenesis-diagnosis-and-management
#17
María Luisa Sánchez-Ferrer, María Teresa Prieto-Sánchez, Rodrigo Orozco-Fernández, Francisco Machado-Linde, Anibal Nieto-Diaz
Central pontine myelinolysis (CPM) is a rare condition usually caused by rapid sodium correction in hyponatraemia after a severe neurological syndrome. Only few cases have been reported during pregnancy, most of which were reported in patients with hyperemesis. We describe the successful management of the first case of twin pregnancy in a patient who presented with CPM after treatment for premature labour and then review the literature on CPM in pregnancy (aetiology, diagnosis and management). Our patient required emergency delivery to achieve electrolyte and fluid balance...
December 6, 2016: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27922251/endovascular-prevention-and-treatment-of-stroke-related-to-extracranial-carotid-artery-disease
#18
Leonardo Rangel-Castilla, Gary B Rajah, Hakeem J Shakir, Jason M Davies, Kenneth V Snyder, Adnan H Siddiqui, Elad I Levy, L N Hopkins
Acute ischemic stroke (AIS) is the leading cause of premature mortality and morbidity worldwide for both men and women. Extracranial carotid artery stenosis/occlusion is responsible for approximately 11.5%% of ischemic strokes, whereas extracranial large vessel disease comprises roughly 16.6% of ischemic strokes. Carotid artery disease has been the source of significant debate among neurovascular and cardiovascular specialists, as well as vascular surgeons, as to the best method of revascularization, surgical reconstruction versus endovascular recanalization...
December 6, 2016: Journal of Cardiovascular Surgery
https://www.readbyqxmd.com/read/27920535/prevalence-of-alcohol-use-disorders-and-associated-factors-among-people-with-epilepsy-attending-amanuel-mental-specialized-hospital-addis-ababa-ethiopia
#19
Tsegereda Waja, Jemal Ebrahim, Zegeye Yohannis, Asres Bedaso
INTRODUCTION: Alcohol use disorders represent one of the leading causes of preventable death, illness, and injury in many societies throughout the world. Heavy alcohol consumption has multiple negative consequences for people with epilepsy such as precipitation of seizure, exacerbation of seizure, poor seizure control, increased side effects of antiepileptic drugs, noncompliance to antiepileptic drugs, alcohol withdrawal seizures, long-term hospital admission, status epilepticus, sudden unexpected death, and premature mortality...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/27920058/a-novel-somatic-mutation-achieves-partial-rescue-in-a-child-with-hutchinson-gilford-progeria-syndrome
#20
Daniel Z Bar, Martin F Arlt, Joan F Brazier, Wendy E Norris, Susan E Campbell, Peter Chines, Delphine Larrieu, Stephen P Jackson, Francis S Collins, Thomas W Glover, Leslie B Gordon
BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon 11 of the LMNA gene. The resultant disease-causing protein, progerin, acts as a dominant negative. Disease severity relies partly on progerin levels. METHODS AND RESULTS: We report a novel form of somatic mosaicism, where a child possessed two cell populations with different HGPS disease-producing mutations of the same nucleotide-one producing severe HGPS and one mild HGPS...
December 5, 2016: Journal of Medical Genetics
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