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https://www.readbyqxmd.com/read/27926951/a-novel-mutation-of-the-calcium-sensing-receptor-gene-in-a-franconian-kindred-heterozygous-mutation-c-1697_1698deltg-exon-6
#1
M Cordes, T Kuwert, C Haag, F Raue
Familial hypocalciuric hypercalcemia (FHH) belongs to the disorders of a disturbed calcium homeostasis. Genetically, the disorder is inherited in an autosomal-dominant trait and represents an inactivating mutation of the calcium sensing receptor (CaSR) gene. We identified a Franconian kindred in which 6 individuals could be tested by molecular genetic means. In 5 individuals of 3 generations, the mutation could be classified as c.1697_1698delTG. This novel germline mutation creates a premature stop codon leading to a loss of 510 amino acids of the protein...
December 7, 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27926853/a-dynamical-threshold-for-cardiac-delayed-afterdepolarization-mediated-triggered-activity
#2
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
#3
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
#4
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/27925619/moderate-hyperoxia-induces-extracellular-matrix-remodeling-by-human-fetal-airway-smooth-muscle-cells
#5
Elizabeth R Vogel, Rodney D Britt, Arij Faksh, Ine Kuipers, Hitesh Pandya, Y S Prakash, Richard J Martin, Christina M Pabelick
BACKGROUND: Premature infants are at increased risk for airway diseases, such as wheezing and asthma, because of early exposure to risk factors including hyperoxia. As in adult asthma, airway remodeling and increased extracellular matrix (ECM) deposition is involved. METHODS: We assessed the impact of 24-72 h of moderate hyperoxia (50%) on human fetal airway smooth muscle (fASM) ECM deposition through western blot, modified in-cell western, and zymography techniques...
December 7, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27924754/relevance-of-randomised-controlled-trials-in-oncology
#6
REVIEW
Ian F Tannock, Eitan Amir, Christopher M Booth, Saroj Niraula, Alberto Ocana, Bostjan Seruga, Arnoud J Templeton, Francisco Vera-Badillo
Well-designed randomised controlled trials (RCTs) can prevent bias in the comparison of treatments and provide a sound basis for changes in clinical practice. However, the design and reporting of many RCTs can render their results of little relevance to clinical practice. In this Personal View, we discuss the limitations of RCT data and suggest some ways to improve the clinical relevance of RCTs in the everyday management of patients with cancer. RCTs should ask questions of clinical rather than commercial interest, avoid non-validated surrogate endpoints in registration trials, and have entry criteria that allow inclusion of all patients who are fit to receive treatment...
December 2016: Lancet Oncology
https://www.readbyqxmd.com/read/27924651/caffeine-combined-with-sedative-anesthetic-drugs-triggers-widespread-neuroapoptosis-in-a-mouse-model-of-prematurity
#7
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/27924356/comparison-of-two-common-aeeg-classifications-for-the-prediction-of-neurodevelopmental-outcome-in-preterm-infants
#8
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
#9
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/27924059/an-open-label-phase-ii-study-evaluating-first-line-egfr-tyrosine-kinase-inhibitor-erlotinib-in-non-small-cell-lung-cancer-patients-with-tumors-showing-high-egfr-gene-copy-number
#10
Ewa Szutowicz-Zielińska, Krzysztof Konopa, Anna Kowalczyk, Małgorzata Suszko-Każarnowicz, Renata Duchnowska, Aleksandra Szczęsna, Magdalena Ratajska, Aleksander Sowa, Janusz Limon, Wojciech Biernat, Tomasz Burzykowski, Jacek Jassem, Rafał Dziadziuszko
BACKGROUND: First-line treatment with epidermal growth factor receptor (EGFR) inhibitors in NSCLC is effective in patients with activating EGFR mutations. The activity of erlotinib in patients harboring high EGFR gene copy number has been considered debatable. PATIENTS AND METHODS: A multicenter, open-label, single-arm phase II clinical trial was performed to test the efficacy of erlotinib in the first-line treatment of NSCLC patients harboring high EGFR gene copy number defined as ≥4 copies in ≥40% of cells...
December 4, 2016: Oncotarget
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
#11
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/27922698/differentially-expressed-mirnas-in-oxygen%C3%A2-induced-retinopathy-newborn-mouse-models
#12
Yunpeng Wang, Suying Wu, Yang Yang, Fen Peng, Qintao Li, Peng Tian, Erying Xiang, Honglu Liang, Beibei Wang, Xiaoyu Zhou, Hua Huang, Xiaoguang Zhou
The present study aimed to identify microRNAs (miRNAs) involved in regulating retinal neovascularization and retinopathy of prematurity (ROP). A total of 80 healthy C57BL/6 neonatal mice were randomly divided into the oxygen‑induced retinopathy (OIR) group (n=40), in which 7‑day‑old mice were maintained in 75% oxygen conditions for 5 days, or the control group (n=40). Following collection of retinal tissue, retinal angiography and hematoxylin and eosin (H&E) staining were performed. Total RNA was also extracted from retinal tissue, and miRNA microarrays and reverse transcription‑quantitative polymerase chain reaction (RT‑qPCR) were performed to identify differentially expressed miRNAs in the two groups...
December 6, 2016: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27922286/central-pontine-myelinolysis-during-pregnancy-pathogenesis-diagnosis-and-management
#13
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
#14
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/27922250/an-unusual-complication-of-endotracheal-intubation-ingestion-of-a-bulb-in-a-premature-neonate
#15
Özmert M A Özdemir, Ali Koçyiğit, Cem Çiçek, Uğur Koltuksuz, Hacer Ergin
Endotracheal intubation is a common daily procedure used for sustaining life in premature and term neonates in the neonatal intensive care unit. This procedure can be associated with some iatrogenic complications. One of these complications is ingesting a laryngoscope light bulb, and it is an extremely rare complication in neonates. The consequences of ingestion or aspiration may be serious and life-threatening. Herein, a male premature neonate, ingested a laryngoscope light bulb during endotracheal intubation because of surfactant replacement therapy, is reported...
2016: Turkish Journal of Pediatrics
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/27920283/what-can-we-do-for-people-with-drug-resistant-epilepsy-the-2016-wartenberg-lecture
#17
Jerome Engel
Treatment goals for epilepsy are no seizures, no side effects, as soon as possible, but these goals are too often unmet. Approximately 1 million people in the United States continue to have seizures despite adequate treatment with antiseizure drugs, representing 40% of those with epilepsy, and 80% of the cost of epilepsy. Drug-resistant epilepsy (DRE) can be associated with developmental delay in infants and young children, and severe disability and morbidity in older children and adults, as well as a mortality rate 5-10 times that of the general population...
December 6, 2016: Neurology
https://www.readbyqxmd.com/read/27920058/a-novel-somatic-mutation-achieves-partial-rescue-in-a-child-with-hutchinson-gilford-progeria-syndrome
#18
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/27919979/second-line-erlotinib-or-intermittent-erlotinib-plus-docetaxel-in-male-ex-smokers-with-squamous-nsclc-the-talisman-randomized-trial
#19
Cesare Gridelli, Antonio Chella, Giuseppe Valmadre, Giacomo Allegrini, Matteo Brighenti, Paolo Bidoli, Antonio Rossi, Paolo Maione, Maria Rita Migliorino, Serena Ricciardi, Filippo DE Marinis
BACKGROUND/AIM: The TArceva and docetaxeL In former-Smokers MAle patients with recurrent non-small cell lung cancer (TALISMAN) phase II, open-label randomized trial evaluates the combination of erlotinib with docetaxel in the second-line therapy of ex-smoker males with advanced squamous non-small cell lung cancer (NSCLC). PATIENTS AND METHODS: Patients received erlotinib 150 mg/day (arm A; n=36) or docetaxel 75 mg/m(2) on day 1 of each 3-week cycle and erlotinib 150 mg/day on days 2-16 of each cycle (arm B; n=38)...
December 2016: Anticancer Research
https://www.readbyqxmd.com/read/27919826/should-blood-pressure-goal-be-individualized-in-hypertensive-patients
#20
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
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