1,596 results match your criteria Current Opinion in Genetics & Development [Journal]


Family communication and patient distress after germline genetic testing in individuals with pancreatic ductal adenocarcinoma.

Cancer 2019 Apr 12. Epub 2019 Apr 12.

Division of Hematology/Oncology, Beth Israel Deaconess Medical Center, Boston, Massachusetts.

Background: Germline genetic testing currently is recommended for patients with pancreatic ductal adenocarcinoma (PDAC). In the current study, the authors assessed how often results are communicated to first-degree relatives within 3 months and the emotional impact of testing on patients.

Methods: A total of 148 patients who were newly diagnosed with PDAC and who had undergone testing of 32 cancer susceptibility genes at 3 academic centers were selected; 71% participated. Read More

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http://dx.doi.org/10.1002/cncr.32077DOI Listing
April 2019
1 Read

Genetic and epigenetic strategies for advancing ovarian cancer immunotherapy.

Expert Opin Biol Ther 2019 Apr 1:1-14. Epub 2019 Apr 1.

c Department of Pharmaceutical Science, School of Pharmacy, Bouve College of Health Sciences , Northeastern University , Boston , MA , USA.

Introduction: Immuno-oncology is currently the most popular field of cancer research and development. The surge of interest in immuno-oncology stems from recent clinical approvals and successes in clinical trials with new immuno-therapeutics and parallels a global trending interest in immunology. Among the current immunotherapeutic modalities, immune checkpoint inhibitors (ICPIs) are some of the most prominent agents that strengthens the activity of our adaptive immune system, and has demonstrated success in treating different types of cancer. Read More

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https://www.tandfonline.com/doi/full/10.1080/14712598.2019.1
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http://dx.doi.org/10.1080/14712598.2019.1602605DOI Listing
April 2019
5 Reads

Understanding Neurobehavioural Dynamics: A Close-Up View on Psychiatry and Quantum Mechanics.

Malays J Med Sci 2019 Jan 28;26(1):147-156. Epub 2019 Feb 28.

Cytogenetics and Molecular Toxicology Laboratory, Section of Genetics, Department of Zoology, Faculty of Life Science, Aligarh Muslim University, Aligarh, 202002, Uttar Pradesh, India.

Psychiatric disorders are prevalent throughout the world and causes heavy burden on mankind. Alone in US, billions of dollars are used for treatment purposes annually. Although advances in treatment strategies had witnessed recently, however the efficacy and overall outcome weren't quite promising. Read More

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http://dx.doi.org/10.21315/mjms2019.26.1.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6419875PMC
January 2019

Current Update on the Molecular Biology of Cutaneous Sarcoma: Dermatofibrosarcoma Protuberans.

Curr Treat Options Oncol 2019 Mar 14;20(4):29. Epub 2019 Mar 14.

Department of Anatomic Pathology, Graduate School of Medicine Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.

Opinion Statement: Cutaneous sarcoma is a group of malignant mesenchymal tumors primarily involving the dermis, and it is characterized by extreme clinicopathological heterogeneity. Although its occurrence rate is rare, dermatofibrosarcoma protuberans (DFSP) is one of the most common types of dermal sarcoma. DFSP grows slowly and tends to relapse locally after inadequate resection. Read More

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http://dx.doi.org/10.1007/s11864-019-0628-3DOI Listing
March 2019
1 Read

The survey of public perception and general knowledge of genomic research and medicine in Japan conducted by the Japan Agency for Medical Research and Development.

J Hum Genet 2019 May 6;64(5):397-407. Epub 2019 Mar 6.

Department of Environmental Medicine, Kochi Medical School, Kochi University, Kochi, Japan.

Japan has been proactively promoting genomic medicine initiatives as national policy. With rapid pace developments in genomic medicine, an increasing number of patients and their families will be able to access genomic information. In such circumstances, a consideration of public interests and an assessment of the general knowledge about genomic research and genomic medicine are becoming imperative. Read More

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http://dx.doi.org/10.1038/s10038-019-0587-3DOI Listing

Screening drugs for myocardial disease in vivo with zebrafish: an expert update.

Expert Opin Drug Discov 2019 Apr 6;14(4):343-353. Epub 2019 Mar 6.

c Cardiovascular Medicine , Brigham and Women's Hospital, Harvard Medical School , Boston , MA , USA.

Introduction: Our understanding of the complexity of cardiovascular disease pathophysiology remains very incomplete and has hampered cardiovascular drug development over recent decades. The prevalence of cardiovascular diseases and their increasing global burden call for novel strategies to address disease biology and drug discovery. Areas covered: This review describes the recent history of cardiovascular drug discovery using in vivo phenotype-based screening in zebrafish. Read More

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https://www.tandfonline.com/doi/full/10.1080/17460441.2019.1
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http://dx.doi.org/10.1080/17460441.2019.1577815DOI Listing
April 2019
6 Reads

Current understanding of pharmacogenetic implications of DNA damaging drugs used in osteosarcoma treatment.

Expert Opin Drug Metab Toxicol 2019 Apr 18;15(4):299-311. Epub 2019 Mar 18.

a Pharmacogenomics and Pharmacogenetics Research Unit of the Laboratory of Experimental Oncology , IRCCS Istituto Ortopedico Rizzoli , Bologna , Italy.

Introduction: DNA damaging drugs are widely used for the chemotherapeutic treatment of high-grade osteosarcoma (HGOS). In HGOS patients, several germline polymorphisms have been reported to impact on the development of adverse toxic events related to DNA damaging drugs treatment. Some of these polymorphisms, when present in tumor cells, may also influence treatment response and prognosis of HGOS patients. Read More

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http://dx.doi.org/10.1080/17425255.2019.1588885DOI Listing

Premarital Screening and Genetic Counseling Program: Studies from an Endogamous Population.

Int J Appl Basic Med Res 2019 Jan-Mar;9(1):20-26

Division of Cancer and Genetics, Institute of Medical Genetics Building, School of Medicine, Cardiff University, Heath Park Cardiff CF14 4XN Cardiff, UK.

Background: Studies in Arab countries have shown a significant lack of knowledge of Premarital Screening and Genetic Counseling (PMSGC) Program. PMSGC can identify and modify, through prevention and management, some behavioral, medical, and other health risk factors known to impact pregnancy outcomes.

Objective: The aim of this study was to explore the knowledge, attitudes, and practice of Qatari's toward the premarital screening program and shedding more light on a complex matter. Read More

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http://dx.doi.org/10.4103/ijabmr.IJABMR_42_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385533PMC
March 2019
6 Reads

Knowledge Deficit of Sickle Cell Trait Status: Can Nurses Help?

Authors:
Afua O Arhin

Crit Care Nurs Q 2019 Apr/Jun;42(2):198-201

School of Nursing, Fayetteville State University, Fayetteville, North Carolina.

Sickle cell disease and sickle cell trait are identified through universal newborn screening, which has been implemented in all hospitals across the United States since the 1970s. Yet, studies report that only 16% of Americans with sickle cell trait know their status. Despite these striking statistics, there appears to be no standardized methods for reporting positive sickle cell trait results of newborn screening to doctors or families of affected persons. Read More

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http://dx.doi.org/10.1097/CNQ.0000000000000254DOI Listing
March 2019
1 Read

The molecular immunology of human susceptibility to fungal diseases: lessons from single gene defects of immunity.

Authors:
Donald C Vinh

Expert Rev Clin Immunol 2019 May 4;15(5):461-486. Epub 2019 Mar 4.

a Department of Medicine (Division of Infectious Diseases; Division of Allergy & Clinical Immunology), Department of Medical Microbiology, Department of Human Genetics , McGill University Health Centre - Research Institute , Montreal , QC , Canada.

Introduction: Fungal diseases are a threat to human health. Therapies targeting the fungus continue to lead to disappointing results. Strategies targeting the host response represent unexplored opportunities for innovative treatments. Read More

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http://dx.doi.org/10.1080/1744666X.2019.1584038DOI Listing

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

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http://dx.doi.org/10.1007/s10815-019-01414-zDOI Listing
February 2019
2 Reads

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

Forensic Sci Int Genet 2019 05 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

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

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

Expert Opin Pharmacother 2019 Apr 6;20(6):713-723. 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

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http://dx.doi.org/10.1080/14656566.2019.1571042DOI Listing
April 2019
16 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 Mar;50(3):e51-e96

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

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http://dx.doi.org/10.1161/STR.0000000000000183DOI Listing
March 2019
3 Reads

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

Expert Rev Mol Diagn 2019 Mar 4;19(3):217-228. Epub 2019 Feb 4.

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

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

Oral Appliance Effectiveness and Patient Satisfaction with Obstructive Sleep Apnea Treatment in Adults.

Med Sci Monit 2019 Jan 18;25:516-524. Epub 2019 Jan 18.

Department of Oral and Maxillofacial Surgery, University Hospital Ostrava, Ostrava, Czech Republic.

BACKGROUND Indication of oral appliances for the treatment of an obstructive sleep apnea (OSA) includes both patients with primary snoring and mild OSA, as well as patients with moderate to severe OSA who refuse other treatment or in whom such treatment failed. The aim of this study was to verify the effectiveness of current OSA treatment by objective measurements, and to assess by means of a questionnaire patients' satisfaction with oral appliances manufactured in our laboratory. MATERIAL AND METHODS The study enrolled 58 adult patients (40 men, 18 women) with mean age of 50. Read More

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http://dx.doi.org/10.12659/MSM.911242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346846PMC
January 2019
4 Reads

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

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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

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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

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

Current Social Media Conversations about Genetics and Genomics in Health: A Twitter-Based Analysis.

Public Health Genomics 2018 22;21(1-2):93-99. Epub 2018 Nov 22.

The National Cancer Institute, Rockville, Maryland, USA.

Background: The growing availability of genomic information to the public may spur discussion about genetics and genomics on social media. Sites, including Twitter, provide a unique space for the public to access and discuss health information. The objective of this study was to better understand how social media users are sharing information about genetics and genomics in health and healthcare and what information is most commonly discussed among Twitter users. Read More

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http://dx.doi.org/10.1159/000494381DOI Listing
April 2019
18 Reads

The current clinical and geographical situation of cutaneous leishmaniasis based on species identification in Turkey.

Acta Trop 2019 Feb 6;190:59-67. Epub 2018 Nov 6.

Ege University, Faculty of Medicine, Department of Parasitology, İzmir, Turkey. Electronic address:

Leishmaniases are a group of vector-borne diseases caused by the members of Leishmania genus, and there are three main clinical forms of the infection as visceral, cutaneous, and mucocutaneous. Cutaneous leishmaniasis is a growing public health problem in Turkey due to increasing detection of autochthonous cases caused by L. major and L. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0001706X183099
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http://dx.doi.org/10.1016/j.actatropica.2018.11.001DOI Listing
February 2019
27 Reads

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

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https://linkinghub.elsevier.com/retrieve/pii/S18724973183039
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http://dx.doi.org/10.1016/j.fsigen.2018.10.014DOI Listing
January 2019
12 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

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http://dx.doi.org/10.1002/mgg3.494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305678PMC
November 2018
16 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

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http://dx.doi.org/10.3389/fcvm.2018.00141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6198642PMC
October 2018
17 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

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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 12 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

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https://www.tandfonline.com/doi/full/10.1080/14728222.2018.1
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http://dx.doi.org/10.1080/14728222.2018.1542429DOI Listing
December 2018
16 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

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

HDAC6 as a potential therapeutic target for peripheral nerve disorders.

Expert Opin Ther Targets 2018 12;22(12):993-1007

a Department of Neurosciences , KU Leuven - University of Leuven, Experimental Neurology and Leuven Brain Institute (LBI) , Leuven , Belgium.

Introduction: Peripheral neuropathies are a heterogeneous group of diseases that are characterized by a progressive, ascending loss of nerve function arising from the peripheral regions of the limbs. The phenotypic overlap between different types of hereditary and acquired peripheral neuropathies indicates that similar pathophysiological processes are at play. Many downstream pathways in peripheral neurons, such as axonal transport, protein degradation, and interactions with Schwann cells, organelle damage, channelopathies, and neuroinflammatory signaling, have been proposed and each affects peripheral nerves in a negative way. Read More

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http://dx.doi.org/10.1080/14728222.2018.1541235DOI Listing
December 2018
4 Reads

HIF-α factors as potential therapeutic targets in leukemia.

Expert Opin Ther Targets 2018 11 27;22(11):917-928. Epub 2018 Oct 27.

b Preclinical Models of Cancer Laboratory, Division of Experimental Oncology , San Raffaele Scientific Institute , Milan , Italy.

Introduction: Hypoxia-inducible transcription factors have been identified as regulators of adaptive responses to hypoxia. Over the past 20 years, more than 8000 papers have described their increasingly complex role and regulation in cancer. Presently, it is recognized that hypoxia-inducible factors (HIFs) are regulated by oxygen-dependent and oxygen-independent mechanisms in cancer development; the list of their targets has increased to include more than 500 genes involved in most hallmarks of cancer. Read More

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http://dx.doi.org/10.1080/14728222.2018.1538357DOI Listing
November 2018
1 Read

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

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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

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http://link.springer.com/10.1007/s11912-018-0732-8
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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

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http://dx.doi.org/10.1080/13543784.2018.1528225DOI Listing
October 2018
2 Reads

Spotlight on avian pathology: current growth-related breast meat abnormalities in broilers.

Avian Pathol 2019 Feb 24;48(1):1-3. Epub 2018 Sep 24.

a Department of Agricultural and Food Sciences , Alma Mater Studiorum - University of Bologna , Cesena , Italy.

Selection for fast-growing and high-breast-yield hybrids has enormously increased the pressure on muscle development rate and mass, indirectly promoting the development of muscular abnormalities affecting the pectoral muscles such as White Striping, Wooden Breast and Spaghetti Meat. Macroscopically, the muscles affected by these defects exhibit distinctive traits, whereas the microscopic examinations evidenced similar histological alterations. Therefore, a common causative mechanism (involving genes related to several metabolic pathways and functional categories) underpinning the occurrence of these abnormalities may be hypothesized and directly associated with muscle hypertrophy induced by selection. Read More

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https://www.tandfonline.com/doi/full/10.1080/03079457.2018.1
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http://dx.doi.org/10.1080/03079457.2018.1508821DOI Listing
February 2019
5 Reads

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

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

RNAi-based therapeutics for lung cancer: biomarkers, microRNAs, and nanocarriers.

Expert Opin Drug Deliv 2018 10 21;15(10):965-982. Epub 2018 Sep 21.

a Department of Pharmaceutical Technology, Faculty of Pharmacy , University of Coimbra , Coimbra , Portugal.

Introduction: Despite the current advances in the discovery of the lung cancer biomarkers and, consequently, in the diagnosis, this pathology continues to be the primary cause of cancer-related death worldwide. In most cases, the illness is diagnosed in an advanced stage, which limits the current treatment options available and reduces the survival rate. Therefore, RNAi-based therapy arises as a promising option to treat lung cancer. Read More

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http://dx.doi.org/10.1080/17425247.2018.1517744DOI Listing
October 2018
2 Reads

Knowledge, perceptions and confidence of physicians and pharmacists towards pharmacogenetics practice in Kuwait.

PLoS One 2018 5;13(9):e0203033. Epub 2018 Sep 5.

Department of Pharmacy Practice, Faculty of Pharmacy, Kuwait University, Kuwait City, Kuwait.

Background: Pharmacogenetics practice has been successfully implemented in many developed countries to enhance personalized medicine and improve clinical and economic outcomes. An understanding of healthcare providers' knowledge, perceptions, confidence towards pharmacogenetics, and their active enrollment with pharmacogenetic testing is essential for test acceptance and utilization. This study was designed to assess physicians' and pharmacists' knowledge, perceptions, and confidence towards pharmacogenetics, determine the preferred learning format for their future education in pharmacogenetics, and identify the barriers to its application in their practice settings. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0203033PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6124749PMC
February 2019

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

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

Brief Report: Pediatrician Perspectives Regarding Genetic Evaluations of Children with Autism Spectrum Disorder.

J Autism Dev Disord 2019 Feb;49(2):794-808

Department of Pediatrics, University of Utah, 295 Chipeta Way, Salt Lake City, UT, 84108, USA.

Despite current guidelines, few children with autism spectrum disorder (ASD) receive genetic evaluations. We surveyed Utah pediatricians to characterize the knowledge, beliefs, current practices and perceived barriers of pediatricians regarding genetic evaluation of children with ASD. We found over half lacked knowledge of current guidelines and many held beliefs about genetic evaluation that did not align with guidelines. Read More

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http://dx.doi.org/10.1007/s10803-018-3738-zDOI Listing
February 2019

Targeting ZBP-89 for the treatment of hepatocellular carcinoma.

Expert Opin Ther Targets 2018 10 6;22(10):817-822. Epub 2018 Sep 6.

a Department of Surgery, Faculty of Medicine , The Chinese University of Hong Kong, Prince of Wales Hospital , Hong Kong , China.

Introduction: Zinc-binding protein-89 (ZBP-89) is a Krüppel-type zinc-finger transcription factor that regulates target gene expression profiles via directly binding to GC-rich gene promoters, recruiting chromatin modifiers or by interacting with other proteins. The importance of ZBP-89 in the regulation of cell cycle arrest and apoptosis has led to increased interest and investigations for its role in cancer development. Areas covered: We describe ZBP-89 as a candidate therapeutic target for hepatocellular carcinoma (HCC) from several perspectives. Read More

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http://dx.doi.org/10.1080/14728222.2018.1516753DOI Listing
October 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

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

The use of biomarkers as a tool for novel psoriatic disease drug discovery.

Expert Opin Drug Discov 2018 09 20;13(9):875-887. Epub 2018 Aug 20.

d Department of Rheumatology , Hammersmith Hospital , London , UK.

Introduction: Psoriatic disease is a relatively new term which encompasses psoriatic arthritis, psoriasis, and associated comorbidities. In this heterogeneous condition, the study of biomarkers is necessary to direct best therapy. Resulting in significant disability and socioeconomic burden, recent recommendations stress the need for tight control in psoriatic disease. Read More

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http://dx.doi.org/10.1080/17460441.2018.1508206DOI Listing
September 2018
19 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

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

Developments in lncRNA drug discovery: where are we heading?

Expert Opin Drug Discov 2018 09 6;13(9):837-849. Epub 2018 Aug 6.

a Center for Therapeutic Innovation and Department of Psychiatry and Behavioral Sciences , University of Miami Miller School of Medicine , Miami , FL , USA.

Introduction: The central dogma of molecular biology, which states that the only role of long RNA transcripts is to convey information from gene to protein, was brought into question in recent years due to discovery of the extensive presence and complex roles of long noncoding RNAs (lncRNAs). Furthermore, lncRNAs were found to be involved in pathogenesis of multiple diseases and thus represent a new class of therapeutic targets. Translational efforts in the lncRNA field have been augmented by progress in optimizing the chemistry and delivery platforms of lncRNA-targeting modalities, including oligonucleotide-based drugs and CRISPR-Cas9. Read More

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http://dx.doi.org/10.1080/17460441.2018.1501024DOI Listing
September 2018
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Circulating miRNAs as biomarkers for early diagnosis of coronary artery disease.

Expert Opin Ther Pat 2018 08 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

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http://dx.doi.org/10.1080/13543776.2018.1503650DOI Listing
August 2018
38 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

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http://dx.doi.org/10.1099/ijsem.0.002942DOI Listing
September 2018
2 Reads

Current and emerging treatment options for endometriosis.

Expert Opin Pharmacother 2018 07 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

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http://dx.doi.org/10.1080/14656566.2018.1494154DOI Listing
July 2018
23 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

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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

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http://dx.doi.org/10.1007/s40259-018-0290-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6428072PMC
August 2018
3 Reads

Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol.

Trials 2018 Jun 28;19(1):344. Epub 2018 Jun 28.

Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599, USA.

Background: Using next-generation sequencing (NGS) in newborn screening (NBS) could expand the number of genetic conditions detected pre-symptomatically, simultaneously challenging current precedents, raising ethical concerns, and extending the role of parental decision-making in NBS. The NC NEXUS (Newborn Exome Sequencing for Universal Screening) study seeks to assess the technical possibilities and limitations of NGS-NBS, devise and evaluate a framework to convey various types of genetic information, and develop best practices for incorporating NGS-NBS into clinical care. The study is enrolling both a healthy cohort and a cohort diagnosed with known disorders identified through recent routine NBS. Read More

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http://dx.doi.org/10.1186/s13063-018-2686-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6022715PMC
June 2018
24 Reads