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Miten Jain, Hugh E Olsen, Daniel J Turner, David Stoddart, Kira V Bulazel, Benedict Paten, David Haussler, Huntington F Willard, Mark Akeson, Karen H Miga
The human genome reference sequence remains incomplete owing to the challenge of assembling long tracts of near-identical tandem repeats in centromeres. We implemented a nanopore sequencing strategy to generate high-quality reads that span hundreds of kilobases of highly repetitive DNA in a human Y chromosome centromere. Combining these data with short-read variant validation, we assembled and characterized the centromeric region of a human Y chromosome.
March 19, 2018: Nature Biotechnology
Musallam Abukhalil, Osama Mehjez, Mohammed Aladdam, Bettina Bottcher, Sobhi Skaik, Mohammed Matter
BACKGROUND: In 2013, al-Shifa Hospital, the largest hospital in the Gaza Strip, introduced an assessment programme for potential kidney donors on the basis of medical and radiological evaluation. The aims of this study and an associated clinical audit were to examine the final outcome of the potential live kidney donors assessment programme, to review the findings and determine the level of accuracy of the radiological evaluations, to assess the completeness and standard of radiological record keeping, and to evaluate adherence to guidelines...
February 21, 2018: Lancet
Branimir Gjurašin, Snježana Židovec Lepej, Michelle J Cole, Rachel Pitt, Josip Begovac
We report an HIV-infected person who was treated for lymphogranuloma venereum cervical lymphadenopathy and proctitis in Croatia in 2014. Infection with a variant L2b genovar of Chlamydia trachomatis was detected in a cervical lymph node aspirate. A prolonged course of doxycycline was required to cure the infection.
April 2018: Emerging Infectious Diseases
Charlene M C Rodrigues, Jay Lucidarme, Ray Borrow, Andrew Smith, J Claire Cameron, E Richard Moxon, Martin C J Maiden
In September 2015, 4CMenB meningococcal vaccine was introduced into the United Kingdom infant immunization program without phase 3 trial information. Understanding the effect of this program requires enhanced surveillance of invasive meningococcal disease (IMD) Neisseria meningitidis isolates and comparison with prevaccination isolates. Bexsero Antigen Sequence Types (BASTs) were used to analyze whole-genome sequences of 3,073 prevaccine IMD N. meningitidis isolates obtained during 2010-2016. Isolates exhibited 803 BASTs among 31 clonal complexes...
April 2018: Emerging Infectious Diseases
Tomislav Rončević, Damir Vukičević, Nada Ilić, Lucija Krce, Goran Gajski, Marija Tonkić, Ivana Goić-Barišić, Larisa Zoranić, Yogesh Sonavane, Monica Benincasa, Davor Juretić, Ana Maravić, Alessandro Tossi
Antimicrobial peptides often show broad-spectrum activity due to a mechanism based on bacterial membrane disruption, which also reduces development of permanent resistance, a desirable characteristic in view of the escalating multidrug resistance problem. Host cell toxicity however requires design of artificial variants of natural AMPs to increase selectivity and reduce side effects. Kiadins were designed using rules obtained from natural peptides active against E. coli and a validated computational algorithm based on a training set of such peptides, followed by rational conformational alterations...
March 19, 2018: Journal of Medicinal Chemistry
Maya Schulpen, Piet A van den Brandt
The evidence on a cancer-protective effect of the Mediterranean diet (MD) is still limited. Therefore, we investigated the association between MD adherence and lung cancer risk. Data were used from 120 852 participants of the Netherlands Cohort Study (NLCS), aged 55-69 years. Dietary habits were assessed at baseline (1986) using a validated FFQ and alternate and modified Mediterranean diet scores (aMED and mMED, respectively), including and excluding alcohol, were calculated. After 20·3 years of follow-up, 2861 lung cancer cases and 3720 subcohort members (case-cohort design) could be included in multivariable Cox regression analyses...
March 2018: British Journal of Nutrition
Jackie M Poos, Lize C Jiskoot, Janne M Papma, John C van Swieten, Esther van den Berg
OBJECTIVES: A meta-analysis of the extent, nature and pattern of memory performance in behavioral variant frontotemporal dementia (bvFTD). Multiple observational studies have challenged the relative sparing of memory in bvFTD as stated in the current diagnostic criteria. METHODS: We performed a meta-analytic review covering the period 1967 to February 2017 of case-control studies on episodic memory in bvFTD versus control participants (16 studies, 383 patients, 603 control participants), and patients with bvFTD versus those with Alzheimer's disease (AD) (20 studies, 452 bvFTD, 874 AD)...
March 19, 2018: Journal of the International Neuropsychological Society: JINS
Alajos Pár, Gabriella Pár
More than 25 years after the discovery of hepatitis C virus, the development of the direct acting antivirals can lead to the regional or long-term global elimination of the virus with over 90% efficacy. This is the success of basic and clinical translational research. Yet, some unsolved challanges remain, such as the great number of unidentified patients who are not aware of their condition, the limited access to the therapy due to the high prices of the drugs, and the treatment of resistance-associated variants...
March 2018: Orvosi Hetilap
D Messineo, S Masieri, C Cavaliere
Rhinitis is an underestimated clinical condition, which has a considerable impact on the quality of life of the affected patients. The subject of this review focuses on three fundamental aspects: the development of knowledge concerning anatomic landmarks, the development of radiological imaging technology, and developments that can make a difference in the treatment of allergic rhinitis. The anatomical study of paranasal sinuses has been conducted since the time of the ancient Egyptians. Development of radiological equipment from the early 1900s has helped to improve information on the morphology of paranasal sinuses, sufficient to be considered valuable information regarding frontal anatomy and its variability...
January 2018: Journal of Biological Regulators and Homeostatic Agents
Kashif Bashir, Romana Sarwar, Shazia Fatima, Soma Saeed, Ishrat Mahjabeen, Mahmood Akhtar Kayani
PURPOSE: Variants in DNA repair genes may alter the repair mechanisms that make the persons vulnerable to DNA damage. These polymorphic variants in the DNA repair pathway genes, such as XRCC1, have been associated with susceptibility of several types of cancer including thyroid cancer. This study was designed to explore the link between XRCC1 polymorphisms and modulation of thyroid cancer risk. METHODS: Our study consisted of 456 thyroid cancer patients and 400 controls...
January 2018: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
Harrison C Brown, Philip M Zakas, Stephan N George, Ernest T Parker, H Trent Spencer, Christopher B Doering
Potency is a key optimization parameter for hemophilia A gene therapy product candidates. Optimization strategies include promoter engineering to increase transcription, codon optimization of mRNA to improve translation, and amino-acid substitution to promote secretion. Herein, we describe both rational and empirical design approaches to the development of a minimally sized, highly potent AAV-fVIII vector that incorporates three unique elements: a liver-directed 146-nt transcription regulatory module, a target-cell-specific codon optimization algorithm, and a high-expression bioengineered fVIII variant...
June 15, 2018: Molecular Therapy. Methods & Clinical Development
Kumar Narahari Narahari, Anu Kapoor, Sarat Kumar Sanamandra, Surya Ramachandra Varma Gunturi
Primary ciliary dyskinesia (PCD) is a rare disorder with impaired ciliary function resulting in a spectrum of clinical manifestations of varying severity. PCD affects approximately one in every 20,000 individuals with a reported prevalence between 1:4000 and 1:50,000. Due to its nonspecific clinical features, the condition is usually diagnosed late in its course, unless situs inversus (SI) or organ laterality defects are discovered at imaging. A small subset of patients with PCD display associated organ laterality defects, different from the classical SI totalis...
January 2018: International Journal of Applied and Basic Medical Research
Philippe Collin, Alexandre Lädermann
Anteroinferior glenohumeral instability can be treated by variants of the Bankart repair, remplissage , and the Latarjet procedure, although all options remain associated with complications, including recurrence, stiffness, persistent pain, apprehension, and dislocation arthropathy. The authors therefore thought of a concept of dynamic anterior stabilization to treat anteroinferior glenohumeral instability by transferring the long head of the biceps within a subscapularis split to the anterior glenoid margin, thereby creating a "sling effect" by using a conservative technique...
January 2018: Arthroscopy Techniques
Emrah Ermis, Serkan Kahraman, Hakan Ucar, Samir Allahverdiyev
Right coronary artery (RCA) originating from the left coronary system is a subtype of single coronary artery (SCA) anomaly, and the origin of RCA as a branch from the left anterior descending artery (LAD) is a very rare variant. A 55-year-old male who had a percutaneous coronary intervention (PCI) history was hospitalized due to acute coronary syndrome. Coronary angiography revealed an aberrant RCA originating from the mid-LAD as well as stent thrombosis. A successful PCI was performed and he was discharged from the hospital three days after the PCI...
February 2018: Intractable & Rare Diseases Research
Mikhail E Kandel, Michael Fanous, Catherine Best-Popescu, Gabriel Popescu
As a label-free, nondestructive method, phase contrast is by far the most popular microscopy technique for routine inspection of cell cultures. However, features of interest such as extensions near cell bodies are often obscured by a glow, which came to be known as the halo . Advances in modeling image formation have shown that this artifact is due to the limited spatial coherence of the illumination. Nevertheless, the same incoherent illumination is responsible for superior sensitivity to fine details in the phase contrast geometry...
February 1, 2018: Biomedical Optics Express
Mamatha Siricilla, Lydia Irwin, Andres Ferber
Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a subtype of nonclassical Hodgkin lymphoma (HL). It resembles non-Hodgkin lymphoma (NHL), by expressing classic B cell markers such as CD20 and CD79a however lacks definitive HL markers (such as CD15 and CD30). T cell histiocyte-rich large B cell lymphoma (THRLBCL), on the other hand, is a distinct entity classified under NHL and considered a variant of diffuse large B cell lymphoma (DLBCL). NLPHL can look morphologically and immunologically similar to THRLBCL and often poses a diagnostic challenge...
2018: Case Reports in Oncological Medicine
Chang Xu
Detection of somatic mutations holds great potential in cancer treatment and has been a very active research field in the past few years, especially since the breakthrough of the next-generation sequencing technology. A collection of variant calling pipelines have been developed with different underlying models, filters, input data requirements, and targeted applications. This review aims to enumerate these unique features of the state-of-the-art variant callers, in the hope to provide a practical guide for selecting the appropriate pipeline for specific applications...
2018: Computational and Structural Biotechnology Journal
Dominique Lombardo, Françoise Silvy, Isabelle Crenon, Emmanuelle Martinez, Aurélie Collignon, Evelyne Beraud, Eric Mas
Pancreatic adenocarcinomas and diabetes mellitus are responsible for the deaths of around two million people each year worldwide. Patients with chronic pancreatitis do not die directly of this disease, except where the pathology is hereditary. Much current literature supports the involvement of bile salt-dependent lipase (BSDL), also known as carboxyl ester lipase (CEL), in the pathophysiology of these pancreatic diseases. The purpose of this review is to shed light on connections between chronic pancreatitis, diabetes, and pancreatic adenocarcinomas by gaining an insight into BSDL and its variants...
February 23, 2018: Oncotarget
Michelle Faria, Samaneh Karami, Sergio Granados-Principal, Prasenjit Dey, Akanksha Verma, Dong S Choi, Olivier Elemento, Tasneem Bawa-Khalfe, Jenny C Chang, Anders M Strom, Jan-Åke Gustafsson
Triple negative breast cancer (TNBC) still remains a challenge to treat in the clinic due to a lack of good targets for treatment. Although TNBC lacks expression of ERα, the expression of ERβ and its variants are detected quite frequently in this cancer type and can represent an avenue for treatment. We show that two of the variants of ERβ, namely ERβ2 and ERβ5, control aggressiveness of TNBC by regulating hypoxic signaling through stabilization of HIF-1α. RNA-seq of patient derived xenografts (PDX) from TNBC shows expression of ERβ2, ERβ4 and ERβ5 variants in more than half of the samples...
February 23, 2018: Oncotarget
Shuhuang Lin, Xu Liu, Bin Yao, Zunnan Huang
Subgroup and stratification analyses have been widely applied in genetic association studies to compare the effects of different factors or control for the effects of the confounding variables associated with a disease. However, studies have not systematically provided application standards and computing methods for stratification analyses. Based on the Mantel-Haenszel and Inverse-Variant approaches and two practical computing methods described in previous studies, we propose a standard stratification method for meta-analyses that contains two sequential steps: factorial stratification analysis and confounder-controlling stratification analysis...
February 23, 2018: Oncotarget
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