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https://www.readbyqxmd.com/read/27913073/attainment-of-ldl-cholesterol-treatment-goals-in-children-and-adolescents-with-familial-hypercholesterolemia-the-safeheart-follow-up-registry
#1
Adriana Saltijeral, Leopoldo Pérez de Isla, Rodrigo Alonso, Ovidio Muñiz, José Luis Díaz-Díaz, Francisco Fuentes, Nelva Mata, Raimundo de Andrés, Gonzalo Díaz-Soto, José Pastor, José Miguel Pinilla, Daniel Zambón, Xavier Pinto, Lina Badimón, Pedro Mata
INTRODUCTION AND OBJECTIVES: Little is known about the characteristics of persons with familial hypercholesterolemia (FH) younger than 18 years, the lipid-lowering therapy used in these patients, and the lipid goals reached in real life. Our aim was to evaluate the achievement of low-density lipoprotein cholesterol (LDL-C) treatment goals in FH patients younger than 18 years enrolled in a large national registry. METHODS: We analyzed patients younger than 18 years enrolled in a large ongoing registry of molecularly-defined patients with FH in Spain...
November 29, 2016: Revista Española de Cardiología
https://www.readbyqxmd.com/read/27912176/novel-designed-vmct1-analogs-with-increased-antimicrobial-activity
#2
Cibele Nicolaski Pedron, Marcelo Der Torossian Torres, Julia Aparecida da Silva Lima, Pedro Ismael Silva, Fernanda Dias Silva, Vani Xavier Oliveira
Antimicrobial peptides are biologically active molecules produced by a wide range of organisms as an essential component of the innate immune response. They have recently attracted great interest, since they have antimicrobial activity against a broad spectrum of microorganisms. VmCT1 is a cationic peptide from the venom of Vaejovis mexicanus smithi scorpions, which presents antibacterial activity and tends to helical structures. Its analogs were synthesized, characterized and the conformational studies were performed by circular dichroism...
November 24, 2016: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/27907016/direct-unequal-cleavages-embryo-developmental-competence-genetic-constitution-and-clinical-outcome
#3
Qiansheng Zhan, Zhen Ye, Robert Clarke, Zev Rosenwaks, Nikica Zaninovic
OBJECTIVE: To investigate the prevalence, developmental potential, chromosomal constitution and clinical outcome of embryos with direct unequal cleavages (DUC). DESIGN: A retrospective observational study. SETTING: Academic Institution. PARTICIPANT: 21,261 embryos from 3,155 cycles cultured in EmbryoScope®. RESULTS: The total incidence of DUCs per embryo occupying the first three cleavages were 26...
2016: PloS One
https://www.readbyqxmd.com/read/27906166/which-brca-genetic-testing-programs-are-ready-for-implementation-in-health-care-a-systematic-review-of-economic-evaluations
#4
Elvira D'Andrea, Carolina Marzuillo, Corrado De Vito, Marco Di Marco, Erica Pitini, Maria Rosaria Vacchio, Paolo Villari
PURPOSE: There is considerable evidence regarding the efficacy and effectiveness of BRCA genetic testing programs, but whether they represent good use of financial resources is not clear. Therefore, we aimed to identify the main health-care programs for BRCA testing and to evaluate their cost-effectiveness. METHODS: We performed a systematic review of full economic evaluations of health-care programs involving BRCA testing. RESULTS: Nine economic evaluations were included, and four main categories of BRCA testing programs were identified: (i) population-based genetic screening of individuals without cancer, either comprehensive or targeted based on ancestry; (ii) family history (FH)-based genetic screening, i...
December 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27903513/the-maximum-heart-rate-in-brown-trout-salmo-trutta-fario-is-not-limited-by-firing-rate-of-pacemaker-cells
#5
Jaakko Haverinen, Denis V Abramochkin, Andre Kamkin, Matti Vornanen
Temperature-induced changes in cardiac output (Q) in fish are largely dependent on thermal modulation of heart rate (fH) and at high temperatures Q collapses due to heat-dependent depression of fH This study tests the hypothesis that firing rate of sinoatrial pacemaker cells sets the upper thermal limit of fH in vivo. To this end temperature-dependence of action potential (AP) frequency of enzymatically isolated pacemaker cells (pacemaker rate, fPM), spontaneous beating rate of isolated sinoatrial preparations (fSA) and in vivo heart rate (fH) of the cold-acclimated (4°C) brown trout (Salmo trutta fario) were compared under acute thermal challenges...
November 30, 2016: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/27903333/diffusion-tensor-imaging-predictors-of-episodic-memory-decline-in-healthy-elders-at-genetic-risk-for-alzheimer-s-disease
#6
Melissa A Lancaster, Michael Seidenberg, J Carson Smith, Kristy A Nielson, John L Woodard, Sally Durgerian, Stephen M Rao
OBJECTIVES: White matter (WM) integrity within the mesial temporal lobe (MTL) is important for episodic memory (EM) functioning. The current study investigated the ability of diffusion tensor imaging (DTI) in MTL WM tracts to predict 3-year changes in EM performance in healthy elders at disproportionately higher genetic risk for Alzheimer's disease (AD). METHODS: Fifty-one cognitively intact elders (52% with family history (FH) of dementia and 33% possessing an Apolipoprotein E ε4 allelle) were administered the Rey Auditory Verbal Learning Test (RAVLT) at study entry and at 3-year follow-up...
November 2016: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/27901468/loss-of-frataxin-activates-the-iron-sphingolipid-pdk1-mef2-pathway-in-mammals
#7
Kuchuan Chen, Tammy Szu-Yu Ho, Guang Lin, Kai Li Tan, Matthew N Rasband, Hugo J Bellen
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by mutations in Frataxin (FXN). Loss of FXN causes impaired mitochondrial function and iron homeostasis. An elevated production of reactive oxygen species (ROS) was previously proposed to contribute to the pathogenesis of FRDA. We recently showed that loss of frataxin homolog (fh), a Drosophila homolog of FXN, causes a ROS independent neurodegeneration in flies (Chen et al., 2016). In fh mutants, iron accumulation in the nervous system enhances the synthesis of sphingolipids, which in turn activates 3-phosphoinositide dependent protein kinase-1 (Pdk1) and myocyte enhancer factor-2 (Mef2) to trigger neurodegeneration of adult photoreceptors...
November 30, 2016: ELife
https://www.readbyqxmd.com/read/27900173/how-accurate-are-the-wrist-based-heart-rate-monitors-during-walking-and-running-activities-are-they-accurate-enough
#8
Sarah E Stahl, Hyun-Sung An, Danae M Dinkel, John M Noble, Jung-Min Lee
BACKGROUND: Heart rate (HR) monitors are valuable devices for fitness-orientated individuals. There has been a vast influx of optical sensing blood flow monitors claiming to provide accurate HR during physical activities. These monitors are worn on the arm and wrist to detect HR with photoplethysmography (PPG) techniques. Little is known about the validity of these wearable activity trackers. AIM: Validate the Scosche Rhythm (SR), Mio Alpha (MA), Fitbit Charge HR (FH), Basis Peak (BP), Microsoft Band (MB), and TomTom Runner Cardio (TT) wireless HR monitors...
2016: BMJ Open Sport & Exercise Medicine
https://www.readbyqxmd.com/read/27891422/panvascular-disease-in-familial-hypercholesterolaemia-treated-with-endovascular-simultaneous-bilateral-carotid-stenting
#9
Anand Alurkar, Lakshmi Sudha Prasanna Karanam, Shripal Shah, Pandurang Mare
Familial Hypercholesterolaemia (FH) is a monogenic autosomal dominant disorder affecting 1 in 500 individuals. We report a case of 32-year-old female with FH, previously not on any treatment, who presented with recurrent bilateral Middle Cerebral Artery (MCA) territory strokes and dyspnoea on exertion due to severe panvascualar disease involving descending aorta, innominate, subclavian, common carotid, internal carotid and coronary vessels. Her complete clinical work up was done and was started on lipid lowering drug treatment and low calorie diet...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27889901/a-novel-approach-to-screening-for-familial-hypercholesterolemia-in-a-large-public-venue
#10
Megan Campbell, Jessa Humanki, Heather Zierhut
The primary aim of this study was to test the feasibility of a public health screening program to identify individuals at high risk of familial hypercholesterolemia through a novel screening approach at a large public venue. A finger-prick, non-fasting lipid panel was obtained, and a survey which consisted of 44 open- and close-ended questions divided into four sections: medical and family history of FH, opinions of cascade genetic testing, patient activation, and demographics was completed. A total of 971 participants met criteria and completed a cholesterol screen...
November 26, 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27889294/increasing-the-detection-of-fh-using-general-practice-electronic-databases
#11
Alistair W Vickery, Jackie Ryan, Jing Pang, Jacquie Garton-Smith, Gerald F Watts
BACKGROUND: Familial hypercholesterolaemia (FH) is a common autosomal co-dominant condition that causes premature cardiovascular disease. Awareness of FH is poor and only 10-15% of the affected population is identified. Electronic health records provide an opportunity to increase detection and awareness in general practice OBJECTIVE: To determine whether a simple electronic extraction tool can increase detection of FH in general practice. METHOD: An extraction tool applied to general practice electronic health records (EHR) to screen for FH, total cholesterol and low density lipoprotein cholesterol (LDL-c) levels in association with entered diagnostic criteria and demographic data in five general practices...
November 15, 2016: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/27883988/real-time-feedback-to-improve-gait-in-children-with-cerebral-palsy
#12
Linda van Gelder, Adam T C Booth, Ingrid van de Port, Annemieke I Buizer, Jaap Harlaar, Marjolein M van der Krogt
Real-time feedback may be useful for enhancing information gained from clinical gait analysis of children with cerebral palsy (CP). It may also be effective in functional gait training, however, it is not known if children with CP can adapt gait in response to real-time feedback of kinematic parameters. Sixteen children with cerebral palsy (age 6-16; GMFCS I-III), walking with a flexed-knee gait pattern, walked on an instrumented treadmill with virtual reality in three conditions: regular walking without feedback (NF), feedback on hip angle (FH) and feedback on knee angle (FK)...
November 11, 2016: Gait & Posture
https://www.readbyqxmd.com/read/27882644/sleep-wake-cycle-phenotypes-in-young-people-with-familial-and-non-familial-mood-disorders
#13
Jan Scott, Sharon Naismith, Ashlee Grierson, Joanne Carpenter, Daniel Hermens, Elizabeth Scott, Ian Hickie
OBJECTIVES: Converging evidence identifies that the offspring of parents with bipolar disorder (BD), individuals at clinical high risk of BD, and young people with recent onset BD may differ from other clinical cases or healthy controls in terms of sleep-wake profiles. However, it is possible that these differences may reflect current mental state, subtype of mood disorder, or familial traits. This study aimed to determine objective and subjective sleep-wake profiles in individuals aged 15-25 years with a current major depressive episode, in relation to familial traits...
November 24, 2016: Bipolar Disorders
https://www.readbyqxmd.com/read/27878139/compound-heterozygous-ldlr-variant-in-severely-affected-familial-hypercholesterolemia-patient
#14
Faisal A Al-Allaf, Abdullah Alashwal, Zainularifeen Abduljaleel, Mohiuddin M Taher, Abdellatif Bouazzaoui, Hala Abalkhail, Ahmad F Al-Allaf, Mohammad Athar
Familial hypercholesterolemia (FH) is most commonly caused by mutations in the LDL receptor (LDLR), which is responsible for hepatic clearance of LDL from the blood circulation. We described a severely affected FH proband and their first-degree blood relatives; the proband was resistant to statin therapy and was managed on an LDL apheresis program. In order to find the causative genetic variant in this family, direct exon sequencing of the LDLR, APOB and PCSK9 genes was performed. We identified a compound heterozygous mutation in the proband with missense p...
November 23, 2016: Acta Biochimica Polonica
https://www.readbyqxmd.com/read/27876352/quantitative-analysis-of-pharmacokinetic-profiles-of-verapamil-and-drug-drug-interactions-induced-by-a-cyp-inhibitor-using-a-stable-isotope-labeled-compound
#15
Makoto Kataoka, Chie Kojima, Kazuki Ueda, Keiko Minami, Haruki Higashino, Shinji Sakuma, Kazutaka Togashi, Kuninori Mutaguchi, Shinji Yamashita
The purpose of the present study is to demonstrate a useful approach (isotope-IV method) for analyzing drug-drug interactions (DDIs) following the oral administration of drugs using stable isotope-labeled compounds. Verapamil hydrochloride (VER) was used as a drug model. Deuterium-labeled VER (VER-d6, 0.005 mg/kg) was intravenously administered to rats with or without a pre-treatment with 1-aminobenzotriazole (ABT, 100 mg/kg), a potent CYP inhibitor, 1.5 h after the oral administration of VER (1 mg/kg)...
August 18, 2016: Drug Metabolism and Pharmacokinetics
https://www.readbyqxmd.com/read/27874896/unusual-acid-base-properties-of-the-p4-molecule-in-hydrogen-halogen-and-pnicogen-bonded-complexes
#16
Ibon Alkorta, José Elguero, Janet E Del Bene
Ab initio MP2/aug'-cc-pVTZ calculations have been carried out to investigate hydrogen bonding, halogen bonding, and pnicogen bonding involving tetrahedral P4 and the FH, ClH, and FCl molecules. P4 has three unique interaction sites: at a vertex (designated the P1 atom); at an edge (the P2-P3 bond); and at the P2-P3-P4 face. The uniqueness of molecular P4 is its ability to act as an electron donor and an electron acceptor at the same site, except for the P2-P3 bond, which is only an electron donor. FCl and FH form five different complexes with P4, but ClH forms only three...
November 30, 2016: Physical Chemistry Chemical Physics: PCCP
https://www.readbyqxmd.com/read/27871196/standardised-anatomical-alignment-of-the-head-in-a-clinical-photography-studio-a-comparison-between-the-frankfort-horizontal-and-the-natural-head-position
#17
Thomas Capon
The Frankfort Horizontal (FH) is used by clinical photographers as a reference plane to help maintain Standardised Representational Photography (SRP) when photographing a patients head. A comparative method of alignment is the Natural Head Position (NHP). For this study a survey was created that asked consultants and clinical photographers which method of alignment they considered to be the most effective. The survey found that 77% of respondents thought the FH was the most effective method of alignment. This high figure is due to some confirmation bias as the FH is the industry standard...
November 21, 2016: Journal of Visual Communication in Medicine
https://www.readbyqxmd.com/read/27866366/a-qualitative-study-of-patients-perceptions-of-the-value-of-molecular-diagnosis-for-familial-hypercholesterolemia-fh
#18
Nina Hallowell, Nicholas Jenkins, Margaret Douglas, Simon Walker, Robert Finnie, Mary Porteous, Julia Lawton
For many years, familial hypercholesterolemia (FH), an inherited disorder, has been diagnosed using phenotypic features plus family history of early onset cardiovascular disease (CVD), and has been successfully treated using statin therapy. DNA testing is now available and this has been incorporated into familial cascade screening programmes in many parts of Europe. Little is known about patients' perceptions of the value of undergoing molecular diagnosis for FH. In-depth interviews were carried out with patients (n = 38) being treated for FH who were the first in their family to undergo DNA testing for FH...
November 19, 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27863088/the-relationship-of-hba1c-fasting-and-postprandial-hyperglycemia-in-subjects-with-type-2-diabetes-mellitus-in-malaysia
#19
Lee Ling Lim, Alan Jm Brnabic, Siew Pheng Chan, Luqman Ibrahim, Sharmila Sunita Paramasivam, Jeyakantha Ratnasingam, Shireene Ratna Vethakkan, Alexander Tong Boon Tan
AIMS/INTRODUCTION: Studies on the relative contributions of fasting and postprandial hyperglycemia (FH and PPH) to HbA1c in type 2 diabetes (T2D) subjects have yielded inconsistent results. We aimed to assess the relationship by using continuous glucose monitoring (CGM) in a multi-ethnic cohort. MATERIALS AND METHODS: 100 T2D adults were assessed with 6-day CGM and HbA1c . Area under the curve (AUC) ≥5.6 mmol/L was defined as AUCTOTAL . AUC ≥ each pre-prandial glucose for 4 hours was defined as AUCPPH ...
November 14, 2016: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/27861771/high-density-lipoprotein-associated-sphingosine-1-phosphate-activity-in-heterozygous-familial-hypercholesterolaemia
#20
Miguel A Frias, Aurélien Thomas, Marie-Claude Brulhart-Meynet, Oskar Kövamees, John Pernow, Mats Eriksson, Bo Angelin, Richard W James, Jonas W Brinck
BACKGROUND: Patients with heterozygous familial hypercholesterolaemia (FH) suffer from high plasma cholesterol and an environment of increased oxidative stress. We examined its potential effects on high-density lipoprotein (HDL)-associated sphingosine-1-phosphate (S1P) content (HDL-S1P) and HDL-mediated protection against oxidative stress, both with and without statin treatment. MATERIALS AND METHODS: In a case-control study, HDL was isolated from 12 FH patients with and without statin treatment and from 12 healthy controls...
November 11, 2016: European Journal of Clinical Investigation
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