1,558 results match your criteria Current Opinion in Genetics & Development [Journal]


Update on central precocious puberty: from etiologies to outcomes.

Expert Rev Endocrinol Metab 2019 Feb 12:1-8. Epub 2019 Feb 12.

b Department of Pediatrics/Division of Pediatric Endocrinology and Diabetology , Riley Hospital for Children, Indiana University School of Medicine , Indianapolis , IN , USA.

Introduction: Precocious puberty (PP) is one of the most common reasons for referral to pediatric endocrinologists. Gonadotropin-releasing hormone analogs (GnRHas) are the gold standard for the treatment of central precocious puberty (CPP) and have an impressive record of safety and efficacy. However, ongoing refinements in diagnosis and management continue to lead to important advancements in clinical care. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/17446651.2019.1575726DOI Listing
February 2019

Expanded genetic carrier screening in clinical practice: a current survey of patient impressions and attitudes.

J Assist Reprod Genet 2019 Feb 13. Epub 2019 Feb 13.

Department of Obstetrics and Gynecology, Boonshoft School of Medicine, Wright State University, 128 Apple Street, Suite 3800 Weber CHE, Dayton, OH, 45409, USA.

Purpose: Expanded genetic carrier screening (ECS) is an important part of gynecological practice and preconception planning. We evaluated the awareness and attitudes among women regarding ECS and factors that may influence decision-making in a family planning context.

Methods: A 32-question survey in an academic university practice was given to 521 women who were either currently pregnant (n = 108), undergoing gynecologic care who were considering future fertility (n = 308), and considering or receiving fertility treatment (n = 105). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10815-019-01414-zDOI Listing
February 2019
1 Read

On DNA transfer: The lack and difficulty of systematic research and how to do it better.

Forensic Sci Int Genet 2019 Jan 31;40:24-36. Epub 2019 Jan 31.

Institute of Forensic Medicine, University Hospital of Schleswig-Holstein, Arnold-Heller-Strasse 12, 24105 Kiel, Germany. Electronic address:

Since DNA from touched items and surfaces ("touch DNA") can successfully and reliably be analyzed, the question as to how a particular DNA containing sample came to be from where it was recovered is of increasing forensic interest and expert witnesses in court are increasingly challenged to assess for instance whether an incriminatory DNA sample matching to a suspect could have been transferred to the crime scene in an innocent manner and to guess at the probability of such an occurrence. The latter however will frequently entail expressing a subjective probability i.e. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsigen.2019.01.012DOI Listing
January 2019

Current state of the art and emerging pharmacotherapy for uterine leiomyosarcomas.

Expert Opin Pharmacother 2019 Feb 6:1-11. Epub 2019 Feb 6.

a Academic Unit of Obstetrics and Gynecology , IRCCS Ospedale Policlinico San Martino , Genoa , Italy.

Introduction: Uterine leiomyosarcomas (ULMS) account for 1% of all uterine malignancies and for 30% of all uterine sarcomas. The preoperative diagnosis of ULMS is challenging for the physicians, as the symptoms of these tumors are often vague and nonspecific. Moreover, as ULMS have an aggressive biologic behavior, affected women frequently have very poor prognosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14656566.2019.1571042DOI Listing
February 2019
4 Reads
3.534 Impact Factor

Management of Stroke in Neonates and Children: A Scientific Statement From the American Heart Association/American Stroke Association.

Stroke 2019 Jan 28:STR0000000000000183. Epub 2019 Jan 28.

Purpose- Much has transpired since the last scientific statement on pediatric stroke was published 10 years ago. Although stroke has long been recognized as an adult health problem causing substantial morbidity and mortality, it is also an important cause of acquired brain injury in young patients, occurring most commonly in the neonate and throughout childhood. This scientific statement represents a synthesis of data and a consensus of the leading experts in childhood cardiovascular disease and stroke. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/STR.0000000000000183DOI Listing
January 2019

From next-generation sequencing to targeted treatment of non-acquired epilepsies.

Expert Rev Mol Diagn 2019 Jan 19:1-12. Epub 2019 Jan 19.

a Department of Epilepsy Genetics and Precision Medicine , The Danish Epilepsy Centre , Dianalund , Denmark.

Introduction: Within the last decade, next-generation sequencing (NGS) has resulted in remarkable advances in the field of epilepsy genetics. NGS has become a routine part of the diagnostic workup in many countries. A workup that has led to higher diagnostic yields and insights into the underlying disease mechanisms. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14737159.2019.1573144DOI Listing
January 2019
1 Read

Spinning the Genome: Why Science Hype Matters.

Perspect Biol Med 2018 ;61(4):560-571

There is a growing body of literature that describes both the degree to which science is hyped and how and why that hype happens. Hype can be described as an inappropriate exaggeration of the significance or potential value of a particular study or area of science. Evidence tells us that this spin happens throughout the science translation process. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1353/pbm.2018.0065DOI Listing
January 2019
1 Read

Cortico-limbic connectivity as a possible biomarker for bipolar disorder: where are we now?

Expert Rev Neurother 2019 Feb 1;19(2):159-172. Epub 2019 Jan 1.

a Psychiatry & Clinical Psychobiology , Division of Neuroscience, Scientific Institute Ospedale San Raffaele , Milano , Italy.

Introduction: The fronto-limbic network has been suggested as a key circuitry in the pathophysiology and maintenance of bipolar disorder. In the past decade, a disrupted connectivity within prefrontal-limbic structures was identified as a promising candidate biomarker for the disorder. Areas Covered: In this review, the authors examine current literature in terms of the structural, functional and effective connectivity in bipolar disorder, integrating recent findings of imaging genetics and machine learning. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14737175.2019.1562338DOI Listing
February 2019
2 Reads

Therapeutic trends in pancreatic ductal adenocarcinoma (PDAC).

Expert Opin Investig Drugs 2019 Feb 16;28(2):161-177. Epub 2018 Dec 16.

d Early Phase Therapeutics Program , University of Arizona Cancer Center , Tucson , AZ , USA.

Introduction: Prognosis remains dismal for pancreatic ductal adenocarcinoma (PDAC). Genomics and proteomics have depicted heterogeneity in PDAC. Collectively, this information could be useful in improving diagnosis, prognosis, modalities of therapy, treatment responses, deciphering drug resistance and new drug development. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/13543784.2019.1557145DOI Listing
February 2019

DNA transfer in forensic science: A review.

Forensic Sci Int Genet 2019 01 26;38:140-166. Epub 2018 Oct 26.

Biometrics Division, Victoria Police Forensic Services Department, 31 Forensic Drive, Macleod 3085, Australia.

Understanding the variables impacting DNA transfer, persistence, prevalence and recovery (DNA-TPPR) has become increasingly relevant in investigations of criminal activities to provide opinion on how the DNA of a person of interest became present within the sample collected. This review considers our current knowledge regarding DNA-TPPR to assist casework investigations of criminal activities. There is a growing amount of information available on DNA-TPPR to inform the relative probabilities of the evidence given alternative scenarios relating to the presence or absence of DNA from a specific person in a collected sample of interest. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S18724973183039
Publisher Site
http://dx.doi.org/10.1016/j.fsigen.2018.10.014DOI Listing
January 2019
9 Reads

Risk perception before and after presymptomatic genetic testing for Huntington's disease: Not always what one might expect.

Mol Genet Genomic Med 2018 11 4;6(6):1140-1147. Epub 2018 Nov 4.

Berman Institute of Bioethics, Johns Hopkins University, Baltimore, Maryland.

Background: In 1983, Huntington's disease (HD) was the first genetic disease mapped using DNA polymorphisms. Shortly thereafter, presymptomatic genetic testing for HD began in the context of two research studies. One of these trials was at the Johns Hopkins University Huntington's Disease Center. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305678PMC
November 2018
13 Reads

Precision Healthcare of Type 2 Diabetic Patients Through Implementation of Haptoglobin Genotyping.

Front Cardiovasc Med 2018 16;5:141. Epub 2018 Oct 16.

Vanderbilt University School of Medicine, Nashville, TN, United States.

It is well-recognized that there is a need for medicine to migrate to a platform of delivering preventative care based on an individual's genetic make-up. The US National Research Council, the National Institute of Health and the American Heart Association all support the concept of utilizing genomic information to enhance the clinical management of patients. It is believed this type of precision healthcare will revolutionize health management. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fcvm.2018.00141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198642PMC
October 2018
12 Reads

Metformin transporter pharmacogenomics: insights into drug disposition-where are we now?

Expert Opin Drug Metab Toxicol 2018 Nov 13;14(11):1149-1159. Epub 2018 Nov 13.

e Department of Cardiac Surgery, Shanghai East Hospital , Tongji University , Shanghai , China.

Introduction: Metformin is recommended as first-line treatment for type 2 diabetes (T2D) by all major diabetes guidelines. With appropriate usage it is safe and effective overall, but its efficacy and tolerability show considerable variation between individuals. It is a substrate for several drug transporters and polymorphisms in these transporter genes have shown effects on metformin pharmacokinetics and pharmacodynamics. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/17425255.2018.1541981DOI Listing
November 2018
1 Read

The therapeutic potential of RNA regulation in neurological disorders.

Expert Opin Ther Targets 2018 Dec 31;22(12):1017-1028. Epub 2018 Oct 31.

a Neurogenetics Group , Center for Molecular Neurology, VIB , Antwerp , Belgium.

Introduction: Gene regulation is the term used to describe the mechanisms by which a cell increases or decreases the amount of a gene product (RNA or protein). In complex organs such as the brain, gene regulation is of the utmost importance; aberrations in the regulation of specific genes can lead to neurological disorders. Understanding these mechanisms can create new strategies for targeting these disorders and progress is being made. Read More

View Article

Download full-text PDF

Source
https://www.tandfonline.com/doi/full/10.1080/14728222.2018.1
Publisher Site
http://dx.doi.org/10.1080/14728222.2018.1542429DOI Listing
December 2018
12 Reads

Pharmacogenetic considerations for migraine therapies.

Expert Opin Drug Metab Toxicol 2018 Nov 1;14(11):1161-1167. Epub 2018 Nov 1.

d Department of Clinical and Molecular Medicine , Sapienza University of Rome , Rome , Italy.

Introduction: Migraine is a common neurological disorder with a complex pathophysiology. It has been estimated that incidence between adults of current headache disorder is about 50%. Different studies show that this condition has an important and complex genetic component in response to drug therapy. Read More

View Article

Download full-text PDF

Source
https://www.tandfonline.com/doi/full/10.1080/17425255.2018.1
Publisher Site
http://dx.doi.org/10.1080/17425255.2018.1541452DOI Listing
November 2018
6 Reads

Limits to the scope of non-invasive prenatal testing (NIPT): an analysis of the international ethical framework for prenatal screening and an interview study with Dutch professionals.

BMC Pregnancy Childbirth 2018 Oct 19;18(1):409. Epub 2018 Oct 19.

Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands.

Background: The introduction of non-invasive prenatal testing (NIPT) for foetal aneuploidies is currently changing the field of prenatal screening in many countries. As it is non-invasive, safe and accurate, this technique allows for a broad implementation of first-trimester prenatal screening, which raises ethical issues, related, for instance, to informed choice and adverse societal consequences. This article offers an account of a leading international ethical framework for prenatal screening, examines how this framework is used by professionals working in the field of NIPT, and presents ethical guidance for the expansion of the scope of prenatal screening in practice. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12884-018-2050-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194707PMC
October 2018

The World of Melanoma: Epidemiologic, Genetic, and Anatomic Differences of Melanoma Across the Globe.

Curr Oncol Rep 2018 Sep 24;20(11):87. Epub 2018 Sep 24.

Department of Dermatology, University Hospital Zurich, Gloriastrasse 31, 8091, Zurich, Switzerland.

Purpose Of Review: As cancer remains an increasing problem in industrial countries, the incidence of melanoma has risen rapidly in many populations during the last decades and still continues to rise. Current strategies aiming to control the disease have largely focused on improving the understanding of the interplay of causal factors for this cancer.

Recent Findings: Cutaneous melanoma shows clear differences in incidence, mortality, genomic profile, and anatomic presentation, depending on the country of residence, ethnicity, and socioeconomic status. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s11912-018-0732-8
Publisher Site
http://dx.doi.org/10.1007/s11912-018-0732-8DOI Listing
September 2018
3 Reads

Dacomitinib: an investigational drug for the treatment of glioblastoma.

Expert Opin Investig Drugs 2018 Oct 5;27(10):823-829. Epub 2018 Oct 5.

e Neurooncology and Sarcomas , Catalan Institute of Oncology (ICO) Badalona , Barcelona , Spain.

Introduction: Standard treatment of newly diagnosed glioblastoma (GB) is surgery with radiotherapy and temozolomide, but tumors will recur with a median overall survival of only 15 months. It seems imperative to explore new possibilities of treatment based on targetable alterations known to be present in GB. Among others, Epidermal Growth Factor Receptor or EGFR (HER1) mutations or amplifications are the most prevalent alterations in GB. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/13543784.2018.1528225DOI Listing
October 2018
1 Read

The current use, and opinions of elite athletes and support staff in relation to genetic testing in elite sport within the UK.

Biol Sport 2018 Mar 11;35(1):13-19. Epub 2017 Oct 11.

Centre for Health, Exercise & Active Living (HEAL), Department of Exercise and Sport Science, Manchester Metropolitan University, Crewe Green Road, Crewe, CW1 5DU, UK.

The purpose of the study was to investigate the current use of genetic testing in UK elite sport and assess how genetic testing might be received by those employed in elite sport. Seventy-two elite athletes and 95 support staff at UK sports clubs and governing bodies completed an online survey of 11 questions concerning their experience of genetic testing and beliefs regarding the use of genetic testing in sport. Genetic testing related to sports performance and injury susceptibility is conducted in UK elite sport, albeit by a relatively small proportion of athletes (≤17%) and support staff (≤8%). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5114/biolsport.2018.70747DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6135972PMC
March 2018
1 Read

Familial Chylomicronemia Syndrome: A Clinical Guide For Endocrinologists.

Authors:
James M Falko

Endocr Pract 2018 08;24(8):756-763

Objective: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder caused by mutations in lipoprotein lipase, resulting in accumulation of chylomicrons in plasma and hypertriglyceridemia. Elevated triglycerides cause several complications in patients, the most serious being episodes of acute pancreatitis. This review focuses on expert guidance and opinion from an experienced lipidologist and endocrinologist as well as a current review of the literature, as there are no specific guidelines on FCS. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4158/EP-2018-0157DOI Listing
August 2018
3 Reads

Whi2 is a conserved negative regulator of TORC1 in response to low amino acids.

PLoS Genet 2018 08 24;14(8):e1007592. Epub 2018 Aug 24.

Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences, Soochow University, Suzhou, Jiangsu, China.

Yeast WHI2 was originally identified in a genetic screen for regulators of cell cycle arrest and later suggested to function in general stress responses. However, the function of Whi2 is unknown. Whi2 has predicted structure and sequence similarity to human KCTD family proteins, which have been implicated in several cancers and are causally associated with neurological disorders but are largely uncharacterized. Read More

View Article

Download full-text PDF

Source
http://dx.plos.org/10.1371/journal.pgen.1007592
Publisher Site
http://dx.doi.org/10.1371/journal.pgen.1007592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126876PMC
August 2018
17 Reads

Severe Osteomalacia with Dent Disease Caused by a Novel Intronic Mutation of the CLCN5 gene.

Intern Med 2018 Dec 10;57(24):3603-3610. Epub 2018 Aug 10.

Department of Nephrology, Osaka University Graduate School of Medicine, Japan.

We present a case of Dent disease caused by a novel intronic mutation, 1348-1G>A, of the chloride voltage-gated channel 5 (CLCN5) gene. Cultured proximal tubule cells obtained from the patient showed impaired acidification of the endosome and/or lysosome, indicating that the 1348-1G>A mutation was indeed the cause of Dent disease. Although the prevalence of osteomalacia in Dent disease is low in Japan, several factors-including poor medication adherence-caused severe osteomalacia in the current case. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2169/internalmedicine.1272-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355425PMC
December 2018
6 Reads

Circulating miRNAs as biomarkers for early diagnosis of coronary artery disease.

Expert Opin Ther Pat 2018 Aug 31;28(8):591-601. Epub 2018 Jul 31.

a Institute for Translational Medicine, Qingdao University , Qingdao , China.

Introduction: Coronary artery disease (CAD) contributes to a huge number of human death worldwide. The early diagnosis can arrest the development of CAD and effectively lower the mortality rate. Recently, circulating miRNAs emerged as CAD biomarkers. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/13543776.2018.1503650DOI Listing
August 2018
36 Reads
4.300 Impact Factor

Reclassification of Eubacterium combesii and discrepancies in the nomenclature of botulinum neurotoxin-producing clostridia: Challenging Opinion 69. Request for an Opinion.

Int J Syst Evol Microbiol 2018 Sep 30;68(9):3068-3075. Epub 2018 Jul 30.

Institute for Environmental Health, Inc., 15300 Bothell Way NE, Lake Forest Park, WA 98155, USA.

To clarify the taxonomic position of Eubacterium combesii, the whole genome of its type strain, DSM 20696, was sequenced. Comparison of this sequence with known sequences of other bacteria confirmed that E. combesii represented a member of the Clostridium sporogenes/Clostridium botulinum Group I clade. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1099/ijsem.0.002942DOI Listing
September 2018
1 Read

Current and emerging treatment options for endometriosis.

Expert Opin Pharmacother 2018 Jul 5;19(10):1109-1125. Epub 2018 Jul 5.

a Academic Unit of Obstetrics and Gynecology , Ospedale Policlinico San Martino , Genoa , Italy.

Introduction: Pharmacotherapy has a pivotal role in the management of endometriosis with long-term treatments balancing clinical efficacy (control of pain symptoms and prevention of recurrence of the disease after surgery) with an acceptable safety profile. Treatment choice is based on several factors including age and patient preference, reproductive plans, intensity of pain, severity of disease and incidence of adverse effects. Areas covered: The aim of this review is to provide the reader with a complete overview of drugs that are currently available or are under investigation for the treatment of endometriosis highlighting on-going clinical trials. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14656566.2018.1494154DOI Listing
July 2018
18 Reads

Distribution and Structure of DM2 Repeat Tract Alleles in the German Population.

Front Neurol 2018 19;9:463. Epub 2018 Jun 19.

Institute of Human Genetics, Julius-Maximilians-University of Würzburg, Würzburg, Germany.

Autosomal dominant inherited Myotonic dystrophy type 1 and 2 (DM1 and DM2) are the most frequent muscle dystrophies in the European population and are caused by repeat expansion mutations. For Germany cumulative empiric evidence suggests an estimated prevalence of DM2 of roughly 9 in 100,000, therefore being as prevalent as DM1. In DM2, a (CCTG) repeat tract located in the first intron of the gene is expanded. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fneur.2018.00463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6020772PMC
June 2018
3 Reads

Spherical Nucleic Acid Nanoparticles: Therapeutic Potential.

BioDrugs 2018 Aug;32(4):297-309

Biomedical Engineering, University of Delaware, Newark, DE, 19716, USA.

Spherical nucleic acids (SNAs) are highly oriented, well organized, polyvalent structures of nucleic acids conjugated to hollow or solid core nanoparticles. Because they can transfect many tissue and cell types without toxicity, induce minimum immune response, and penetrate various biological barriers (such as the skin, blood-brain barrier, and blood-tumor barrier), they have become versatile tools for the delivery of nucleic acids, drugs, and proteins for various therapeutic purposes. This article describes the unique structures and properties of SNAs and discusses how these properties enable their application in gene regulation, immunomodulation, and drug and protein delivery. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s40259-018-0290-5DOI Listing
August 2018
3 Reads

Increasing the number of available ranks in virus taxonomy from five to ten and adopting the Baltimore classes as taxa at the basal rank.

Arch Virol 2018 Oct 26;163(10):2933-2936. Epub 2018 Jun 26.

Department of Medical Microbiology, Leiden University Medical Center, 2300, RC, Leiden, The Netherlands.

This opinion article makes a case for increasing the number of ranks used in virus taxonomy from the current five to ten (as are used to classify cellular life forms) and placing the Baltimore classes in the proposed basal rank of domain. These suggestions aim at initiating the process of accommodation of Baltimore classes in virus taxonomy and extension of the virus taxonomy scale to encompass also the most distant relationships. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00705-018-3915-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132925PMC
October 2018
4 Reads

Progress in gene and cell therapies for the neuronal ceroid lipofuscinoses.

Expert Opin Biol Ther 2018 07 2;18(7):755-764. Epub 2018 Jul 2.

a Department of Neurosurgery , Emory University , Atlanta , GA , USA.

Introduction: The neuronal ceroid lipofuscinoses (NCLs) are a subset of lysosomal storage diseases (LSDs) that cause myoclonic epilepsy, loss of cognitive and motor function, degeneration of the retina leading to blindness, and early death. Most are caused by loss-of-function mutations in either lysosomal proteins or transmembrane proteins. Current therapies are supportive in nature. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14712598.2018.1492544DOI Listing
July 2018
1 Read

Choroideremia: molecular mechanisms and development of AAV gene therapy.

Expert Opin Biol Ther 2018 07 22;18(7):807-820. Epub 2018 Jun 22.

a Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences , University of Oxford , Oxford , UK.

Introduction: Choroideremia is an X-linked inherited retinal degeneration that causes blindness in afflicted males by middle age. The causative gene, CHM, plays a key role in intracellular trafficking pathways, and its disruption impairs cell homeostasis. Areas covered: The mechanism by which mutations in CHM cause choroideremia is still under debate. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14712598.2018.1484448DOI Listing
July 2018
1 Read

Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2018 09 14;20(9):899-909. Epub 2018 Jun 14.

Departments of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.

Purpose: The purpose of this document is to provide updated guidance for the genetic evaluation of cardiomyopathy and for an approach to manage secondary findings from cardiomyopathy genes. The genetic bases of the primary cardiomyopathies (dilated, hypertrophic, arrhythmogenic right ventricular, and restrictive) have been established, and each is medically actionable; in most cases established treatments or interventions are available to improve survival, reduce morbidity, and enhance quality of life.

Methods: A writing group of cardiologists and genetics professionals updated guidance, first published in 2009 for the Heart Failure Society of America (HFSA), in a collaboration with the American College of Medical Genetics and Genomics (ACMG). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0039-zDOI Listing
September 2018
26 Reads

Progranulin as a therapeutic target for dementia.

Expert Opin Ther Targets 2018 07 22;22(7):579-585. Epub 2018 Jun 22.

a Neurodegenerative Diseases Unit, University of Milan, Centro Dino Ferrari, Fondazione Cà Granda, IRCCS Ospedale Maggiore Policlinico , Milan , Italy.

Introduction: Progranulin (PGRN) is an acrosomal glycoprotein that is synthesized during spermatogenesis. It is overexpressed in tumors and has anti-inflammatory properties. The protein may be cleaved into granulins which display pro-inflammatory properties. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14728222.2018.1487951DOI Listing

Nurses' knowledge about Berardinelli-Seip Congenital Lipodystrophy.

PLoS One 2018 4;13(6):e0197784. Epub 2018 Jun 4.

Faculdade de Ciências da Saúde do Trairi, Universidade Federal do Rio Grande do Norte, Santa Cruz, RN, Brazil.

Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive disease characterized by the almost complete absence of adipose tissue. Due to a strong founder effect that resulted in a higher prevalence of BSCL in Rio Grande do Norte (RN), a state in northeastern Brazil, it has been essential that health professionals develop knowledge about this disease. Nurses are often the first point of contact with patients during health care assistance. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0197784PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986131PMC
November 2018
3 Reads

Pharmacological treatment options for severe hypertriglyceridemia and familial chylomicronemia syndrome.

Expert Rev Clin Pharmacol 2018 Jun 11;11(6):589-598. Epub 2018 Jun 11.

c Department of Metabolic Medicine/Chemical Pathology , Guy's and St Thomas' Hospitals , London , UK.

Introduction: A spectrum of disorders, ranging from rare severe cases of homozygous null lipoprotein lipase deficiency (LPLD)-familial chylomicronemia syndrome (FCS) to heterozygous missense LPLD or polygenic causes, result in hypertriglyceridemia and pancreatitis. The effects of mutations are exacerbated by environmental factors such as diet, pregnancy, and insulin resistance. Areas covered: In this review, authors discuss chronic treatment of FCS by ultra-low fat diets allied with the use of fibrates, omega-3 fatty acids, niacin, statins, and insulin-sensitizing therapies depending on the extent of residual lipoprotein lipase (LPL) activity; novel therapies in development target triglyceride (TG)-rich lipoprotein particle clearance. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/17512433.2018.1480368DOI Listing
June 2018
6 Reads

What do young people with rheumatic conditions in the UK think about research involvement? A qualitative study.

Pediatr Rheumatol Online J 2018 May 24;16(1):35. Epub 2018 May 24.

School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.

Background: Involving people of all ages in health research is now widely advocated. To date, no studies have explored whether and how young people with chronic rheumatic conditions want to be involved in influencing health research. This study aimed to explore amongst young people with rheumatic conditions, 1) their experiences of research participation and involvement 2) their beliefs about research involvement and 3) beliefs about how young people's involvement should be organized in the future. Read More

View Article

Download full-text PDF

Source
https://ped-rheum.biomedcentral.com/articles/10.1186/s12969-
Publisher Site
http://dx.doi.org/10.1186/s12969-018-0251-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5968709PMC
May 2018
2 Reads

Evaluation of the azoospermic male: a committee opinion.

Authors:

Fertil Steril 2018 05;109(5):777-782

American Society for Reproductive Medicine, Birmingham, Alabama.

The purpose of this document is to review the current methods of diagnosis and evaluation for men with azoospermia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2018.01.043DOI Listing
May 2018
1 Read

Pathogens constancy, harbinger of nosocomial infection cum identification of resistant genes and drug designing.

Comput Biol Chem 2018 Jun 22;74:347-359. Epub 2018 Apr 22.

Center of Biotechnology and Microbiology, University of Peshawar, Peshawar, Pakistan. Electronic address:

Hospitals are the most prominent places for the growth and spread of bacteria which are resistant to the available antibiotics. This antibiotic resistance is due to the over and misuse of antibiotic dosages of a high-density of patient population which are in frequent interaction with inanimate items of the hospitals and the consequent risk of cross infection. Out of 1010 samples of the current study, 510 (50. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S14769271173078
Publisher Site
http://dx.doi.org/10.1016/j.compbiolchem.2018.04.010DOI Listing
June 2018
11 Reads
1.120 Impact Factor

Pharmacogenetic associations with cytochrome P450 in antiretroviral therapy: what does the future hold?

Expert Opin Drug Metab Toxicol 2018 Jun 28;14(6):601-611. Epub 2018 May 28.

a Integrated Pharmacometrics, Pharmacogenomics and Pharmacokinetics , Louvain Drug Research Institute, Université catholique de Louvain , Brussels , Belgium.

Introduction: Several antiretroviral drugs used to treat infection with the human immunodeficiency virus (HIV) are substrates of enzymes belonging to the cytochrome P450 (CYP) superfamily, which are polymorphically expressed. It may therefore be useful to take into account the genetic variation in these enzymes to predict the likelihood of anti-HIV treatment success, toxicity and the potential for drug-drug interactions. Areas covered: In this manuscript, the authors discuss the current state of knowledge regarding pharmacogenetic associations between CYP and all major antiretrovirals, as well as the importance of these associations. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/17425255.2018.1478964DOI Listing
June 2018
23 Reads

Mitochondrial disease patient motivations and barriers to participate in clinical trials.

PLoS One 2018 17;13(5):e0197513. Epub 2018 May 17.

Mitochondrial Medicine Frontier Program, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.

Background: Clinical treatment trials are increasingly being designed in primary mitochondrial disease (PMD), a phenotypically and genetically heterogeneous collection of inherited multi- system energy deficiency disorders that lack effective therapy. We sought to identify motivating factors and barriers to clinical trial participation in PMD.

Methods: A survey study was conducted in two independent mitochondrial disease subject cohorts. Read More

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0197513PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5957366PMC
December 2018
3 Reads

Patients' perspectives and experiences concerning barriers to accessing information about bilateral prophylactic mastectomy.

Breast 2018 Aug 11;40:116-122. Epub 2018 May 11.

School of Psychology and Speech Pathology, Curtin University, Perth, Australia.

Purpose: To explore the barriers and experiences of accessing information for women who have received genetic risk assessment/testing results for breast cancer (BC) and are considering a bilateral prophylactic mastectomy (BPM) and, exploring participants' preferences concerning information and support needs.

Methods: A qualitative retrospective study guided by interpretative phenomenological analysis was utilised. Semi-structured interviews were conducted with forty-six women who were either considering BPM or had already undergone the surgery. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.breast.2018.05.003DOI Listing
August 2018
3 Reads

Recurrent complete hydatidiform mole: where we are, is there a safe gestational horizon? Opinion and mini-review.

J Assist Reprod Genet 2018 Jun 8;35(6):967-973. Epub 2018 May 8.

3rd Department of Obstetrics and Gynaecology, Hippokration General Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.

Benign hydatidiform mole, complete or partial, is the most common type of gestational trophoblastic disease (GTD) characterised by excessive trophoblastic proliferation and abnormal embryonic development. Although most complete hydatidiform moles (CHMs) are diploid androgenetic, a few cases of CHMs are biparental, characterised by recurrence and familial clustering. In these rare cases, mutations in NLRP7 or KHDC3L genes, associated with maternal imprinting defects, have been implicated. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10815-018-1202-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030002PMC
June 2018
7 Reads

Views Of Primary Care Providers On Testing Patients For Genetic Risks For Common Chronic Diseases.

Health Aff (Millwood) 2018 05;37(5):793-800

Carol R. Horowitz is a professor in the Department of Population Health Science and Policy and in the Center for Health Equity and Community-Engaged Research, Icahn School of Medicine at Mount Sinai.

We surveyed 488 primary care providers in community and academic practices in New York City in the period 2014-16 about their views on genetic testing for chronic diseases. The majority of the providers, most of whom were current or recent physicians in training, had had formal genetics education and had positive views of the utility of genetic testing. However, they felt unprepared to work with patients at high risk for genetic conditions and were not confident about interpreting test results. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1377/hlthaff.2017.1548DOI Listing
May 2018
1 Read

Thymosin-β4: A key modifier of renal disease.

Expert Opin Biol Ther 2018 07 9;18(sup1):185-192. Epub 2018 May 9.

b Developmental Biology and Cancer Programme , UCL Institute of Child Health , London , UK.

Introduction: There is an urgent need for new treatments for chronic kidney disease (CKD). Thymosin-β4 is a peptide that reduces inflammation and fibrosis and has the potential to restore endothelial and epithelial cell injury, biological processes involved in the pathophysiology of CKD. Therefore, thymosin-β4 could be a novel therapeutic direction for CKD. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14712598.2018.1473371DOI Listing
July 2018
3 Reads

An update on emerging drugs for the treatment of idiopathic pulmonary fibrosis.

Expert Opin Emerg Drugs 2018 06 8;23(2):159-172. Epub 2018 May 8.

a Inova Advanced Lung Disease and Lung Transplant program , Falls Church , VA , USA.

Introduction: Idiopathic pulmonary fibrosis is a chronic, progressive fibrotic lung disease of unknown etiology associated with a high morbidity and mortality. The hallmark of the disease is impaired healing after alveolar epithelial injury in the setting of a genetic predisposition. Development of two new drugs has changed the landscape of the treatment of IPF but more work is needed to improve outcomes and improve survival. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14728214.2018.1471465DOI Listing
June 2018
4 Reads

Current knowledge of microRNA-mediated regulation of drug metabolism in humans.

Expert Opin Drug Metab Toxicol 2018 May 11;14(5):493-504. Epub 2018 May 11.

a Drug Metabolism and Toxicology, Faculty of Pharmaceutical Sciences , WPI Nano Life Science Institute (WPI-NanoLSI), Kanazawa University , Kanazawa , Japan.

Introduction: Understanding the factors causing inter- and intra-individual differences in drug metabolism potencies is required for the practice of personalized or precision medicine, as well as for the promotion of efficient drug development. The expression of drug-metabolizing enzymes is controlled by transcriptional regulation by nuclear receptors and transcriptional factors, epigenetic regulation, such as DNA methylation and histone acetylation, and post-translational modification. In addition to such regulation mechanisms, recent studies revealed that microRNAs (miRNAs), endogenous ~22-nucleotide non-coding RNAs that regulate gene expression through the translational repression and degradation of mRNAs, significantly contribute to post-transcriptional regulation of drug-metabolizing enzymes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/17425255.2018.1472237DOI Listing
May 2018
1 Read

siRNA drug development against hepatitis B virus infection.

Expert Opin Biol Ther 2018 06 8;18(6):609-617. Epub 2018 May 8.

a Department of Infectious Diseases and Hepatology , Medical University of Bialystok , Bialystok , Poland.

Introduction: Hepatitis B virus (HBV) infection is the worldwide leading cause of liver cirrhosis and hepatocellular carcinoma. Currently available medication can suppress viral replication in the majority of patients, but clearance of the viral antigens can be achieved in only about 10%. Areas covered: RNA interference is a very attractive therapeutic option since a well-designed compound could possibly inhibit all HBV mRNA and thus synthesis of all its antigens, which could combine antiviral and immunomodulatory modes of action. Read More

View Article

Download full-text PDF

Source
https://www.tandfonline.com/doi/full/10.1080/14712598.2018.1
Publisher Site
http://dx.doi.org/10.1080/14712598.2018.1472231DOI Listing
June 2018
5 Reads

Cancer CRISPR Screens In Vivo.

Trends Cancer 2018 05 30;4(5):349-358. Epub 2018 Mar 30.

Department of Genetics, Yale University School of Medicine, New Haven, CT, USA; Systems Biology Institute, Yale University School of Medicine, West Haven, CT, USA; Medical Scientist Training Program, Yale University School of Medicine, New Haven, CT, USA; Biological and Biomedical Sciences Program, Yale University School of Medicine, New Haven, CT, USA; Immunobiology Program, Yale University School of Medicine, New Haven, CT, USA; Comprehensive Cancer Center, Yale University School of Medicine, New Haven, CT, USA; Stem Cell Center, Yale University School of Medicine, New Haven, CT, USA. Electronic address:

Clustered regularly interspaced short palindromic repeats (CRISPR) screening is a powerful toolset for investigating diverse biological processes. Most CRISPR screens to date have been performed with in vitro cultures or cellular transplant models. To interrogate cancer in animal models that more closely recapitulate the human disease, autochthonous direct in vivo CRISPR screens have recently been developed that can identify causative drivers in the native tissue microenvironment. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.trecan.2018.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5935117PMC
May 2018
1 Read

Emerging therapeutic targets in the short QT syndrome.

Expert Opin Ther Targets 2018 05;22(5):439-451

b Biological Physics Group, School of Physics and Astronomy , University of Manchester , Manchester , United Kingdom.

Introduction: Short QT Syndrome (SQTS) is a rare but dangerous condition characterised by abbreviated repolarisation, atrial and ventricular arrhythmias and risk of sudden death. Implantable cardioverter defibrillators (ICDs) are a first line protection against sudden death, but adjunct pharmacology is beneficial and desirable. Areas covered: The genetic basis for genotyped SQTS variants (SQT1-SQT8) and evidence for arrhythmia substrates from experimental and simulation studies are discussed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14728222.2018.1470621DOI Listing
May 2018
2 Reads

Controlling ticks and tick-borne diseases…looking forward.

Ticks Tick Borne Dis 2018 07 10;9(5):1354-1357. Epub 2018 Apr 10.

SaBio, Instituto de Investigación en Recursos Cinegéticos IREC (CSIC-UCLM-JCCM), Ronda de Toledo s/n, 13005 Ciudad Real, Spain; Department of Veterinary Pathobiology, Center for Veterinary Health Sciences, Oklahoma State University, Stillwater, OK 74078, USA, USA. Electronic address:

Tick-borne diseases (TBDs) represent a growing burden for human and animal health worldwide. Several approaches including the use of chemicals with repellency and parasiticidal activity, habitat management, genetic selection of hosts with higher resistance to ticks, and vaccines have been implemented for reducing the risk of TBDs. However, the application of latest gene editing technologies in combination with vaccines likely combining tick and pathogen derived antigens and other control measures should result in the development of effective, safe, and environmentally sound integrated control programs for the prevention and control of TBDs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ttbdis.2018.04.001DOI Listing
July 2018
1 Read

Potential roles of tumor-derived exosomes in angiogenesis.

Expert Opin Ther Targets 2018 05 26;22(5):409-417. Epub 2018 Apr 26.

a Department of Pathology , University of Pittsburgh School of Medicine , Pittsburgh , PA , USA.

Introduction: Tumor-derived exosomes (TEX) and their role in tumor progression by accelerating angiogenesis are of great current interest. A better understanding of the mechanisms underlying TEX-blood vessels cross-talk may lead to improvements in current diagnosis, prognosis and treatment of cancer. Areas covered: For solid tumors, an adequate blood supply is of critical importance for their development, growth and metastasis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14728222.2018.1464141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126896PMC
May 2018
6 Reads