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https://www.readbyqxmd.com/read/29334348/assessing-the-readiness-of-precision-medicine-interoperabilty-an-exploratory-study-of-the-national-institutes-of-health-genetic-testing-registry
#1
Jay G Ronquillo, Chunhua Weng, William T Lester
BACKGROUND:   Precision medicine involves three major innovations currently taking place in healthcare:  electronic health records, genomics, and big data.  A major challenge for healthcare providers, however, is understanding the readiness for practical application of initiatives like precision medicine. OBJECTIVE:   To better understand the current state and challenges of precision medicine interoperability using a national genetic testing registry as a starting point, placed in the context of established interoperability formats...
November 17, 2017: Journal of Innovation in Health Informatics
https://www.readbyqxmd.com/read/29333839/-pa%C3%A3-ister-kiuian-syndrome-in-a-mexican-mestizo-patient-case-report
#2
Paola Mendelsberg-Fishbein, Constanza García-Delgado, Linda B Muñoz-Martínez, Maura Robledo-Cayetano, Leonardo J Mejía-Marín, Luis E Martínez-Barrera, Mabel Cerrillo-Hinojosa, Verónica F Moran-Barroso
Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation. The diagnosis is complex as the cytogenetic analysis in blood is usually normal, requiring karyotyping in other tissues, therefore the clinical suspicion is critical to guide the diagnostic tests and the patient requires an interdisciplinary clinical evaluation regarding the several manifestation of the syndrome...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29332010/oligogenic-genetic-variation-of-neurodegenerative-disease-genes-in-980-postmortem-human-brains
#3
Michael J Keogh, Wei Wei, Juvid Aryaman, Ian Wilson, Kevin Talbot, Martin R Turner, Chris-Anne McKenzie, Claire Troakes, Johannes Attems, Colin Smith, Safa Al Sarraj, Chris M Morris, Olaf Ansorge, Stuart Pickering-Brown, Nick Jones, James W Ironside, Patrick F Chinnery
BACKGROUND: Several studies suggest that multiple rare genetic variants in genes causing monogenic forms of neurodegenerative disorders interact synergistically to increase disease risk or reduce the age of onset, but these studies have not been validated in large sporadic case series. METHODS: We analysed 980 neuropathologically characterised human brains with Alzheimer's disease (AD), Parkinson's disease-dementia with Lewy bodies (PD-DLB), frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) and age-matched controls...
January 13, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29331631/the-edinburgh-ct-and-genetic-diagnostic-criteria-for-lobar-intracerebral-haemorrhage-associated-with-cerebral-amyloid-angiopathy-model-development-and-diagnostic-test-accuracy-study
#4
Mark A Rodrigues, Neshika Samarasekera, Christine Lerpiniere, Catherine Humphreys, Mark O McCarron, Philip M White, James A R Nicoll, Cathie L M Sudlow, Charlotte Cordonnier, Joanna M Wardlaw, Colin Smith, Rustam Al-Shahi Salman
BACKGROUND: Identification of lobar spontaneous intracerebral haemorrhage associated with cerebral amyloid angiopathy (CAA) is important because it is associated with a higher risk of recurrent intracerebral haemorrhage than arteriolosclerosis-associated intracerebral haemorrhage. We aimed to develop a prediction model for the identification of CAA-associated lobar intracerebral haemorrhage using CT features and genotype. METHODS: We identified adults with first-ever intracerebral haemorrhage diagnosed by CT, who died and underwent research autopsy as part of the Lothian IntraCerebral Haemorrhage, Pathology, Imaging and Neurological Outcome (LINCHPIN) study, a prospective, population-based, inception cohort...
January 10, 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29331595/the-interaction-between-neurocognitive-functioning-subthreshold-psychotic-symptoms-and-pharmacotherapy-in-22q11-2-deletion-syndrome-a-longitudinal-comparative-study
#5
R Weinberger, O Weisman, Y Guri, T Harel, A Weizman, D Gothelf
BACKGROUND: The 22q11.2 deletion syndrome (22q11DS) is the most common genetic syndrome associated with schizophrenia. The goal of this study was to evaluate longitudinally the interaction between neurocognitive functioning, the presence of subthreshold psychotic symptoms (SPS) and conversion to psychosis in individuals with 22q11DS. In addition, we attempted to identify the specific neurocognitive domains that predict the longitudinal evolution of positive and negative SPS, as well as the effect of psychiatric medications on 22q11DS psychiatric and cognitive developmental trajectories...
December 8, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/29331453/are-privacy-enhancing-technologies-for-genomic-data-ready-for-the-clinic-a-survey-of-medical-experts-of-the-swiss-hiv-cohort-study
#6
Jean-Louis Raisaro, Paul J McLaren, Jacques Fellay, Matthias Cavassini, Catherine Klersy, Jean-Pierre Hubaux
PURPOSE: Protecting patient privacy is a major obstacle for the implementation of genomic-based medicine. Emerging privacy-enhancing technologies can become key enablers for managing sensitive genetic data. We studied physicians' attitude toward this kind of technology in order to derive insights that might foster their future adoption for clinical care. METHODS: We conducted a questionnaire-based survey among 55 physicians of the Swiss HIV Cohort Study who tested the first implementation of a privacy-preserving model for delivering genomic test results...
January 10, 2018: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/29330528/application-of-weighted-gene-co-expression-network-analysis-for-data-from-paired-design
#7
Jianqiang Li, Doudou Zhou, Weiliang Qiu, Yuliang Shi, Ji-Jiang Yang, Shi Chen, Qing Wang, Hui Pan
Investigating how genes jointly affect complex human diseases is important, yet challenging. The network approach (e.g., weighted gene co-expression network analysis (WGCNA)) is a powerful tool. However, genomic data usually contain substantial batch effects, which could mask true genomic signals. Paired design is a powerful tool that can reduce batch effects. However, it is currently unclear how to appropriately apply WGCNA to genomic data from paired design. In this paper, we modified the current WGCNA pipeline to analyse high-throughput genomic data from paired design...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29330225/genetics-in-endocrinology-genetic-counseling-for-congenital-hypogonadotropic-hypogonadism-and-kallmann-syndrome-new-challenges-in-the-era-of-oligogenism-and-next-generation-sequencing
#8
Luigi Maione, Andrew A Dwyer, Bruno Francou, Anne Guiochon-Mantel, Nadine Binart, Jerome Bouligand, Jacques Young
Congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS) are rare, related diseases that prevent normal pubertal development and cause infertility in affected men and women. However, the infertility carries a good prognosis as increasing numbers of patients with CHH/KS are now able to have children through medically assisted procreation. These are genetic diseases that can be transmitted to patients' offspring. Importantly patients and their families should be informed of this risk and given genetic counseling...
January 12, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29329387/patients-with-acephalic-spermatozoa-syndrome-linked-to-sun5-mutations-have-a-favorable-pregnancy-outcome-from-icsi
#9
Jianzheng Fang, Jingjing Zhang, Fuxi Zhu, Xiaoyu Yang, Yugui Cui, Jiayin Liu
STUDY QUESTION: Are Sad1 and UNC84 domain containing 5 (SUN5) mutations associated with the outcomes of ICSI in patients with acephalic spermatozoa syndrome (ASS)? SUMMARY ANSWER: Despite highly abnormal sperm morphology, ASS patients with SUN5 mutations have a favorable pregnancy outcome following ICSI. WHAT IS KNOWN ALREADY: ASS is a rare cause of infertility characterized by the production of a majority of headless spermatozoa, along with a small proportion of intact spermatozoa with an abnormal head-tail junction...
January 10, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29329164/a-systematic-review-of-risk-factors-associated-with-cognitive-impairment-after-pediatric-critical-illness
#10
Alicia G Kachmar, Sharon Y Irving, Cynthia A Connolly, Martha A Q Curley
OBJECTIVES: To identify risk factors associated with cognitive impairment as assessed by neuropsychologic tests in neurotypical children after critical illness. DATA SOURCES: For this systematic review, we searched the Cochrane Library, Scopus, PubMed, Ovid, Embase, and CINAHL databases from January 1960 to March 2017. STUDY SELECTION: Included were studies with subjects 3-18 years old at the time of post PICU follow-up evaluation and use of an objective standardized neuropsychologic test with at least one cognitive functioning dimension...
January 11, 2018: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29329127/cutis-laxa-acquisita-after-urticarial-vasculitis-in-sle-patients
#11
Kimberly B Golisch, Silvija P Gottesman, Patricia Ferrer, Keliegh S Culpepper
Cutis laxa is a rare connective tissue disease involving damage to dermal elastic fibers creating a clinical appearance of loose, sagging skin. The condition can be either acquired or genetic. Autoimmune diseases, neoplasms, infections, and medications have been proposed as the cause of, or in association with, the acquired form. In nearly 50% of cases, erythematous plaques present before the onset of cutis laxa. Separately, urticarial vasculitis and systemic lupus erythematosus have been linked to cutis laxa acquisita...
January 11, 2018: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/29326146/prior-authorization-requirements-for-proprotein-convertase-subtilisin-kexin-type-9-inhibitors-across-us-private-and-public-payers
#12
Jalpa A Doshi, Justin T Puckett, Michael S Parmacek, Daniel J Rader
BACKGROUND: Proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9is) are an innovative treatment option for patients with familial hypercholesterolemia or clinical atherosclerotic cardiovascular disease who require further lowering of low-density lipoprotein cholesterol. However, the high costs of these agents have spurred payers to implement utilization management policies to ensure appropriate use. We examined prior authorization (PA) requirements for PCSK9is across private and public US payers...
January 2018: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/29325677/chronic-obstructive-pulmonary-disease-among-lung-cancer-free-smokers-the-importance-of-healthy-controls
#13
Michelle D Karpman, Ronald Eldridge, Jack L Follis, Carol J Etzel, Sanjay Shete, Randa A El-Zein
BACKGROUND: The prevalence of chronic obstructive pulmonary disease (COPD) in smokers enrolled as "healthy" controls in studies is 10-50%. The COPD status of ideal smoker populations for lung cancer case-control studies should be checked via spirometry; however, this is often not feasible, because no medical indications exist for asymptomatic smokers to undergo spirometry prior to study enrollment. Therefore, there is an unmet need for robust, cost effective assays for identifying undiagnosed lung disease among asymptomatic smokers...
January 2018: Respiratory Investigation
https://www.readbyqxmd.com/read/29325628/pharmacogenetics
#14
Jeffrey R Bishop
Pharmacogenetics is the study of how genetics influences drug treatment outcomes. Much research has been conducted to identify and characterize gene variants that impact the pharmacokinetic and pharmacodynamic aspects of medications used to treat neurologic and psychiatric disorders. This chapter reviews the current state of pharmacogenetic aspects of these treatments. Medications with supporting pharmacogenetic information in product labeling, clinical guidelines, or important mechanistic implications are discussed...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325607/genetic-and-genomic-testing-for-neurologic-disease-in-clinical-practice
#15
Brent L Fogel
The influence of genetics on neurologic disease is broad and it is becoming more common that clinicians are presented with a patient whose disease is likely of genetic origin. In the search for mutations causing Mendelian disorders, advances in genetic testing methodology have propelled modern neurologic practice beyond single-gene testing into the realm of genomic medicine, where routine evaluations encompass hundreds or thousands of genes, or even the entire exome, representing all protein-coding genes in the genome...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325489/creating-effective-biocontainment-facilities-and-maintenance-protocols-for-raising-specific-pathogen-free-severe-combined-immunodeficient-scid-pigs
#16
Ellis J Powell, Sara Charley, Adeline N Boettcher, Lisa Varley, Justin Brown, Martine Schroyen, Malavika K Adur, Susan Dekkers, Dean Isaacson, Mary Sauer, Joan Cunnick, N Matthew Ellinwood, Jason W Ross, Jack Cm Dekkers, Christopher K Tuggle
Severe combined immunodeficiency (SCID) is defined by the lack of an adaptive immune system. Mutations causing SCID are found naturally in humans, mice, horses, dogs, and recently in pigs, with the serendipitous discovery of the Iowa State University SCID pigs. As research models, SCID animals are naturally tolerant of xenotransplantation and offer valuable insight into research areas such as regenerative medicine, cancer therapy, as well as immune cell signaling mechanisms. Large-animal biomedical models, particularly pigs, are increasingly essential to advance the efficacy and safety of novel regenerative therapies on human disease...
January 1, 2018: Laboratory Animals
https://www.readbyqxmd.com/read/29325267/-analysis-of-clinical-outcomes-of-different-embryo-stage-biopsy-in-array-comparative-genomic-hybridization-based-preimplantation-genetic-diagnosis-and-screening
#17
J D Shen, W Wu, L Shu, L L Cai, J Z Xie, L Ma, X P Sun, Y G Cui, J Y Liu
Objective: To evaluate the efficiency of the application of array comparative genomic hybridization (array-CGH) in preimplantation genetic diagnosis or screening (PGD/PGS), and compare the clinical outcomes of different stage embryo biopsy. Methods: The outcomes of 381 PGD/PGS cycles referred in the First Affiliated Hospital of Nanjing Medical University from July 2011 to August 2015 were retrospectively analyzed. There were 320 PGD cycles with 156 cleavage-stage-biopsy cycles and 164 trophectoderm-biopsy cycles, 61 PGS cycles with 23 cleavage-stage-biopsy cycles and 38 trophectoderm-biopsy cycles...
December 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29324852/real-life-helping-behaviours-in-north-america-a-genome-wide-association-approach
#18
Georg Primes, Martin Fieder
In humans, prosocial behaviour is essential for social functioning. Twin studies suggest this distinct human trait to be partly hardwired. In the last decade research on the genetics of prosocial behaviour focused on neurotransmitters and neuropeptides, such as oxytocin, dopamine, and their respective pathways. Recent trends towards large scale medical studies targeting the genetic basis of complex diseases such as Alzheimer's disease and schizophrenia pave the way for new directions also in behavioural genetics...
2018: PloS One
https://www.readbyqxmd.com/read/29324472/collagenous-enteritis-is-unlikely-a-form-of-aggressive-celiac-disease-despite-sharing-hla-dq2-dq8-genotypes
#19
Vanderlene Liu Kung, Ta-Chiang Liu, Changqing Ma
Collagenous enteritis is an uncommon small intestinal injury pattern with unclear pathogenesis. While it has been speculated that collagenous enteritis represents a form of refractory celiac disease, recent clinical studies suggest a potential link to exposure to the antihypertensive medication olmesartan. Here we hypothesized that the pathogenesis of collagenous enteritis involves both genetic and environmental factors. All subjects with biopsy-proven collagenous enteritis diagnosed between 2002 and 2015 were identified from 2 tertiary care medical centers...
January 10, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29324309/the-promising-future-of-ventricular-restraint-therapy-for-the-management-of-end-stage-heart-failure
#20
REVIEW
Muhammad Naveed, Imran Shair Mohammad, Li Xue, Sara Khan, Wang Gang, Yanfang Cao, Yijie Cheng, Xingxing Cui, Chen DingDing, Yu Feng, Wang Zhijie, Zhou Xiaohui
Complicated pathophysiological syndrome associated with irregular functioning of the heart leading to insufficient blood supply to the organs is linked to congestive heart failure (CHF) which is the leading cause of death in developed countries. Numerous factors can add to heart failure (HF) pathogenesis, including myocardial infarction (MI), genetic factors, coronary artery disease (CAD), ischemia or hypertension. Presently, most of the therapies against CHF cause modest symptom relief but incapable of giving significant recovery for long-term survival outcomes...
January 8, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
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