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https://www.readbyqxmd.com/read/27933664/left-ventricular-rotational-mechanics-in-infants-with-hypoxic-ischemic-encephalopathy-and-preterm-infants-at-36%C3%A2-weeks-postmenstrual-age-a-comparison-with-healthy-term-controls
#1
Colm R Breatnach, Eva Forman, Adrienne Foran, Cathy Monteith, Lisa McSweeney, Fergal Malone, Naomi McCallion, Orla Franklin, Afif El-Khuffash
BACKGROUND AND AIMS: There is a paucity of data on left ventricle (LV) rotational physiology in neonates. We aimed to assess rotational mechanics in infants with hypoxic ischemic encephalopathy (HIE) and premature infants (<32 weeks) at 36 weeks postmenstrual age (PMA) (preterm group) and compare them with healthy term controls (term controls). We also compared the parameters in preterm infants with and without chronic lung disease (CLD). METHODS: Echocardiography was performed within 48 hours of birth or at 36 weeks PMA...
December 9, 2016: Echocardiography
https://www.readbyqxmd.com/read/27933652/nonobstructive-diffuse-dilated-bowel-loops-prenatal-diagnosis-fetal-characteristics-and-neonatal-outcomes
#2
Guy Katz, Ben Pode-Shakked, Michal Berkenstadt, Ron Bilik, Sylvie Polak Charcon, Iris Barshack, Reuven Achiron, Yinon Gilboa
OBJECTIVES: The purpose of this study was to describe the characteristics and outcomes of fetuses with a diagnosis of nonobstructive diffuse dilated bowel loops. METHODS: We conducted a retrospective study of all pregnancies with fetal diagnosis of nonobstructive diffuse dilated bowel loops over 14 years in a large tertiary referral center. Fetomaternal and neonatal characteristics and outcomes were assessed. RESULTS: Seven fetuses had sonograms showing diffuse dilated bowel loops; none of them had intestinal obstruction after labor...
December 8, 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/27932416/a-phase-ii-trial-of-dovitinib-in-bcg-unresponsive-urothelial-carcinoma-with-fgfr3-mutations-or-over-expression-hoosier-cancer-research-network-trial-hcrn-12-157
#3
Noah M Hahn, Trinity J Bivalacqua, Ashley E Ross, George J Netto, Alexander S Baras, Jong Chul Park, Carolyn Chapman, Timothy A Masterson, Michael O Koch, Richard Bihrle, Richard S Foster, Thomas A Gardner, Liang Cheng, David R Jones, Kyle McElyea, George E Sandusky, Timothy Breen, Ziyue Liu, Costantine Albany, Marietta L Moore, Rhoda A Loman, Angela Reed, Scott A Turner, Francine B de Abreu, Torrey L Gallagher, Gregory J Tsongalis, Elizabeth R Plimack, Richard E Greenberg, Daniel M Geynisman
PURPOSE: To assess the clinical and pharmacodynamic activity of dovitinib in a treatment resistant, molecularly enriched NMIUC population. EXPERIMENTAL DESIGN: A multi-site pilot phase 2 trial was conducted. Key eligibility criteria included: BCG unresponsive NMIUC (> 2 prior intravesical regimens) with increased phosphorylated FGFR3 (pFGFR3) expression by centrally analyzed immunohistochemistry (IHC+) or FGFR3 mutations (Mut+) assessed in a CLIA-licensed laboratory...
December 8, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27932355/familial-hypercholesterolemia-phenotype-in-chinese-patients-undergoing-coronary-angiography
#4
Jian-Jun Li, Sha Li, Cheng-Gang Zhu, Na-Qiong Wu, Yan Zhang, Yuan-Lin Guo, Ying Gao, Xiao-Lin Li, Ping Qing, Chuan-Jue Cui, Rui-Xia Xu, Zheng-Wen Jiang, Jing Sun, Geng Liu, Qian Dong
OBJECTIVE: Familial hypercholesterolemia (FH) is characterized by an elevated low-density lipoprotein cholesterol and increased risk of premature coronary artery disease. However, the general picture and mutational spectrum of FH in China are far from recognized, representing a missed opportunity for the investigation. APPROACH AND RESULTS: A total of 8050 patients undergoing coronary angiography were enrolled. The diagnosis of clinical FH was made using Dutch Lipid Clinic Network criteria, and the information of relatives was obtained by inquiring for the probands or from their own medical records of certain clinics/hospitals...
December 8, 2016: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/27931782/radiographic-presentation-of-musculoskeletal-involvement-in-werner-syndrome-adult-progeria
#5
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
#6
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
#7
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
#8
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/27930355/premature-cardiac-aging-in-south-asian-compared-to-afro-caribbean-subjects-in-a-community-based-screening-study
#9
Eduard Shantsila, Alena Shantsila, Paramjit S Gill, Gregory Y H Lip
BACKGROUND: People of South Asian (SAs) and African Caribbean (AC) origin have increased cardiovascular morbidity, but underlying mechanisms are poorly understood. Aging is the key predictor of deterioration in diastolic function, which can be assessed by echocardiography using E/e' ratio as a surrogate of left ventricular (LV) filling pressure. The study aimed to assess a possibility of premature cardiac aging in SA and AC subjects. METHODS AND RESULTS: We studied 4540 subjects: 2880 SA and 1660 AC subjects...
November 10, 2016: Journal of the American Heart Association
https://www.readbyqxmd.com/read/27930337/genetic-immunological-and-clinical-features-of-patients-with-bacterial-and-fungal-infections-due-to-inherited-il-17ra-deficiency
#10
Romain Lévy, Satoshi Okada, Vivien Béziat, Kunihiko Moriya, Caini Liu, Louis Yi Ann Chai, Mélanie Migaud, Fabian Hauck, Amein Al Ali, Cyril Cyrus, Chittibabu Vatte, Turkan Patiroglu, Ekrem Unal, Marie Ferneiny, Nobuyuki Hyakuna, Serdar Nepesov, Matias Oleastro, Aydan Ikinciogullari, Figen Dogu, Takaki Asano, Osamu Ohara, Ling Yun, Erika Della Mina, Didier Bronnimann, Yuval Itan, Florian Gothe, Jacinta Bustamante, Stéphanie Boisson-Dupuis, Natalia Tahuil, Caner Aytekin, Aicha Salhi, Saleh Al Muhsen, Masao Kobayashi, Julie Toubiana, Laurent Abel, Xiaoxia Li, Yildiz Camcioglu, Fatih Celmeli, Christoph Klein, Suzan A AlKhater, Jean-Laurent Casanova, Anne Puel
Chronic mucocutaneous candidiasis (CMC) is defined as recurrent or persistent infection of the skin, nails, and/or mucosae with commensal Candida species. The first genetic etiology of isolated CMC-autosomal recessive (AR) IL-17 receptor A (IL-17RA) deficiency-was reported in 2011, in a single patient. We report here 21 patients with complete AR IL-17RA deficiency, including this first patient. Each patient is homozygous for 1 of 12 different IL-17RA alleles, 8 of which create a premature stop codon upstream from the transmembrane domain and have been predicted and/or shown to prevent expression of the receptor on the surface of circulating leukocytes and dermal fibroblasts...
December 7, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27926491/early-pathogenic-event-of-alzheimer-s-disease-documented-in-ipscs-from-patients-with-psen1-mutations
#11
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/27925622/relation-between-amniotic-fluid-infection-or-cytokine-levels-and-hearing-screen-failure-in-infants-at-32-wk-gestation-or-less
#12
Eun Young Jung, Byung Yoon Choi, Jihye Rhee, Jaehong Park, Soo-Hyun Cho, Kyo Hoon Park
BACKGROUND: To determine whether the presence of intra-amniotic infection and elevated proinflammatory cytokine levels in amniotic fluid (AF) are associated with failure in the newborn hearing screen (NHS) test in very preterm neonates. METHODS: This is a retrospective cohort study of 112 premature singleton neonates born to women with preterm labor or preterm premature rupture of membranes at ≤32 wk. AF obtained through amniocentesis was cultured, and interleukin-6 (IL-6) and IL-8 levels were determined...
December 7, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27924356/comparison-of-two-common-aeeg-classifications-for-the-prediction-of-neurodevelopmental-outcome-in-preterm-infants
#13
Nora Bruns, Frauke Dransfeld, Britta Hüning, Julia Hobrecht, Tobias Storbeck, Christel Weiss, Ursula Felderhoff-Müser, Hanna Müller
: Neurodevelopmental outcome after prematurity is crucial. The aim was to compare two amplitude-integrated EEG (aEEG) classifications (Hellström-Westas (HW), Burdjalov) for outcome prediction. We recruited 65 infants ≤32 weeks gestational age with aEEG recordings within the first 72 h of life and Bayley testing at 24 months corrected age or death. Statistical analyses were performed for each 24 h section to determine whether very immature/depressed or mature/developed patterns predict survival/neurological outcome and to find predictors for mental development index (MDI) and psychomotor development index (PDI) at 24 months corrected age...
December 6, 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27924176/our-clinical-experience-of-self-expanding-metal-stent-for-malignant-central-airway-obstruction
#14
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/27923236/the-effect-of-head-positioning-and-head-tilting-on-the-incidence-of-intraventricular-hemorrhage-in-very-preterm-infants-a-systematic-review
#15
Karen A de Bijl-Marcus, Annemieke J Brouwer, Linda S de Vries, Gerda van Wezel-Meijler
BACKGROUND: Despite advances in neonatal intensive care, germinal matrix-intraventricular hemorrhage (GMH-IVH) remains a frequent, serious complication of premature birth. Neutral head position and head tilting have been suggested to reduce the risk of GMH-IVH in preterm infants during the first 72 h of life. OBJECTIVE: The aim of this study was to provide a systematic review of the effect of neutral head positioning and head tilting on the incidence of GMH-IVH in very preterm infants (gestational age ≤30 weeks)...
December 7, 2016: Neonatology
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
#16
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
#17
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
https://www.readbyqxmd.com/read/27919826/should-blood-pressure-goal-be-individualized-in-hypertensive-patients
#18
REVIEW
Alexandra Yannoutsos, Rania Kheder-Elfekih, Jean-Michel Halimi, Michel E Safar, Jacques Blacher
The aim of the present review is to consider the clinical relevance of individualized blood pressure (BP) goal under treatment in hypertensive patients according to their age, comorbidities or established cardiovascular (CV) disease. Evidence from large-scale randomized trials to support a lower BP goal, as initially recommended by guidelines in high-risk hypertensive patients, were lacking. Recently, the randomized intervention SPRINT trial studied two treatment targets for systolic BP (120mm Hg versus 140mm Hg in the intensive and standard treatment group, respectively) among high-risk hypertensive patients, without diabetes and without a history of prior stroke...
December 2, 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/27919351/identification-of-familial-hypercholesterolemia-in-patients-with-myocardial-infarction-a-chinese-cohort-study
#19
Sha Li, Yan Zhang, Cheng-Gang Zhu, Yuan-Lin Guo, Na-Qiong Wu, Ying Gao, Ping Qing, Xiao-Lin Li, Jing Sun, Geng Liu, Qian Dong, Rui-Xia Xu, Chuan-Jue Cui, Jian-Jun Li
BACKGROUND: Familial hypercholesterolemia (FH) is marked by an elevated plasma cholesterol and risk of premature cardiovascular disease. An increased burden of FH is being realized. OBJECTIVE: To provide data on FH in Chinese patients with myocardial infarction (MI) and its potential contribution to early MI. METHODS: A total of 1843 consecutive patients undergoing coronary angiography with their first MI were recruited. The clinical FH was diagnosed using the Dutch Lipid Clinic Network criteria...
November 2016: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/27919346/disease-control-via-intensified-lipoprotein-apheresis-in-three-siblings-with-familial-hypercholesterolemia
#20
Christina Taylan, Andrea Schlune, Thomas Meissner, Karolis Ažukaitis, Floris E A Udink Ten Cate, Lutz T Weber
BACKGROUND: Familial hypercholesterolemia (FH), the prevalent monogenic form of hypercholesterolemia, carries the risk of premature coronary heart disease. Lipoprotein-apheresis is established in children with severe dyslipidemia. We present 3 siblings with a negative/negative residual low-density lipoprotein (LDL) receptor mutation (p.Trp577Arg), unresponsive to drug treatment. OBJECTIVE: Intensified lipoprotein-apheresis is well tolerated and results in permanently low lipid values without harming the health-related quality of life in children...
November 2016: Journal of Clinical Lipidology
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