Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.

Journal of clinical pathology 2018 02 17() pii 10.1136/jclinpath-2017-204978 Abstract AIMS Amyloidosis is caused by deposition of abnormal protein fibrils, leading to damage of organ function. Hereditary

Are cleavage anomalies, multinucleation, or specific cell cycle kinetics observed with time-lapse imaging predictive of embryo developmental capacity or ploidy?

Fertility and sterility 2018 02 13() pii 10.1016/j.fertnstert.2017.12.025 Abstract OBJECTIVE To determine whether cleavage anomalies, multinucleation, and specific cellular kinetic parameters available from time-lapse imaging are predictive

Polygonum aviculare L. extract and quercetin attenuate contraction in airway smooth muscle.

Scientific reports 2018 02 158(1) 3114 doi 10.1038/s41598-018-20409-x Abstract Because of the serious side effects of the currently used bronchodilators, new compounds with similar functions must be

The T790M resistance mutation in EGFR is only found in cfDNA from erlotinib-treated NSCLC patients that harbored an activating EGFR mutation before treatment.

BMC cancer 2018 02 1518(1) 191 doi 10.1186/s12885-018-4108-0 Abstract BACKGROUND Lung cancer patients with an activating mutation in the EGFR (epidermal growth factor receptor) can develop resistance

The impact of EGFR mutations on the incidence and survival of stages I to III NSCLC patients with subsequent brain metastasis.

PloS one 2018 02 1513(2) e0192161 doi 10.1371/journal.pone.0192161 Abstract Previous studies have demonstrated the association between EGFR mutations and distant metastasis. However, the association for subsequent brain

The possible link between coeliac and Kawasaki diseases in Brazil: a cross-sectional study.

BMJ open 2018 02 148(2) e018803 doi 10.1136/bmjopen-2017-018803 Abstract BACKGROUND Kawasaki disease (KD) is a self-limited acute systemic vasculitis of unknown aetiology that predominantly affects infants and

The impact of "Option B" on HIV transmission from mother to child in Rwanda: An interrupted time series analysis.

PloS one 2018 02 1613(2) e0192910 doi 10.1371/journal.pone.0192910 Abstract BACKGROUND Nearly a quarter of a million children have acquired HIV, prompting the implementation of new protocols-Option B

Access to health insurance coverage among sub-Saharan African migrants living in France: Results of the ANRS-PARCOURS study.

PloS one 2018 02 1513(2) e0192916 doi 10.1371/journal.pone.0192916 Abstract BACKGROUND Migrants’ access to care depends on their health insurance coverage in the host country. We aimed to

Heterogeneity in pulmonary emphysema: Analysis of CT attenuation using Gaussian mixture model.

PloS one 2018 02 1413(2) e0192892 doi 10.1371/journal.pone.0192892 Abstract PURPOSE To utilize Gaussian mixture model (GMM) for the quantification of chronic obstructive pulmonary disease (COPD) and to

Detection of HPV16 in Esophageal Cancer in a High-Incidence Region of Malawi.

International journal of molecular sciences 2018 02 1219(2) pii 10.3390/ijms19020557 Abstract This study was designed to explore the role of human papillomavirus (HPV) in esophageal squamous cell

Phase 2 trial of a multivalent WT1 peptide vaccine (galinpepimut-S) in acute myeloid leukemia.

Blood advances 2(3) 224-234 doi 10.1182/bloodadvances.2017014175 Abstract A National Cancer Institute consensus study on prioritization of cancer antigens ranked the Wilms tumor 1 (WT1) protein as the

Frequency of Somatic TP53 Mutations in Combination with Known Pathogenic Mutations in Colon Adenocarcinoma, Non-Small Cell Lung Carcinoma, and Gliomas as Identified by Next-Generation Sequencing.

Neoplasia (New York, N.Y.) 2018 02 1320(3) 256-262 pii 10.1016/j.neo.2017.12.005 Abstract The tumor suppressor gene TP53 is the most frequently mutated gene in human cancer. It encodes

Ubiquitin-Mediated Regulation of RIPK1 Kinase Activity Independent of IKK and MK2.

Molecular cell 69(4) 566-580.e5 pii 10.1016/j.molcel.2018.01.027 Abstract Tumor necrosis factor (TNF) can drive inflammation, cell survival, and death. While ubiquitylation-, phosphorylation-, and nuclear factor κB (NF-κB)-dependent checkpoints

Detection of Crohn Disease in Patients with Spondyloarthropathy: The SpACE Capsule Study.

The Journal of rheumatology 2018 02 15() pii 10.3899/jrheum.161216 Abstract OBJECTIVE Inflammatory bowel disease (IBD) is generally reported to be associated with spondylarthropathies (SpA) in 5%-15% of

Recombinant FXIII (rFXIII-A2) Prophylaxis Prevents Bleeding and Allows for Surgery in Patients with Congenital FXIII A-Subunit Deficiency.

Thrombosis and haemostasis 2018 02 15() doi 10.1055/s-0038-1624581 Abstract Recombinant factor XIII-A(rFXIII-A) was developed for prophylaxis and treatment of bleeds in patients with congenital FXIII A-subunit deficiency.

Brca2, Pds5 and Wapl differentially control cohesin chromosome association and function.

PLoS genetics 2018 02 1514(2) e1007225 doi 10.1371/journal.pgen.1007225 Abstract The cohesin complex topologically encircles chromosomes and mediates sister chromatid cohesion to ensure accurate chromosome segregation upon cell

Lung Function, Inflammation, and Endothelin-1 in Congenital Heart Disease-Associated Pulmonary Arterial Hypertension.

Journal of the American Heart Association 2018 02 147(4) pii 10.1161/JAHA.117.007249 Abstract BACKGROUND Breathlessness is the most common symptom in people with pulmonary arterial hypertension and congenital

Integrating linear optimization with structural modeling to increase HIV neutralization breadth.

PLoS computational biology 2018 02 1614(2) e1005999 doi 10.1371/journal.pcbi.1005999 Abstract Computational protein design has been successful in modeling fixed backbone proteins in a single conformation. However, when

A novel ligand on astrocytes interacts with natural cytotoxicity receptor NKp44 regulating immune response mediated by NK cells.

PloS one 2018 02 1513(2) e0193008 doi 10.1371/journal.pone.0193008 Abstract NK cells play important role in immunity against pathogens and cancer. NK cell functions are regulated by inhibitory

Field evaluation of the safety, acceptability, and feasibility of early infant male circumcision using the AccuCirc device.

PloS one 2018 02 1413(2) e0191501 doi 10.1371/journal.pone.0191501 Abstract BACKGROUND As countries scale up adult voluntary medical male circumcision (VMMC) for HIV prevention, they are looking ahead

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