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https://read.qxmd.com/read/30769329/generation-of-two-isogenic-ipsc-lines-with-either-a-heterozygous-or-a-homozygous-e280a-mutation-in-the-psen1-gene
#1
Henriette R Frederiksen, Bjørn Holst, Ulrike A Mau-Holzmann, Kristine Freude, Benjamin Schmid
Alzheimer's disease (AD) is the most common form of dementia. Mutations in the gene PSEN1 encoding Presenilin1 are known to cause familial forms of AD with early age of onset. The most common mutation in the PSEN1 gene is the E280A mutation. iPSCs are an optimal choice for modeling AD, as they can be differentiated in vitro into neural cells. Here, we report the generation of two isogenic iPSC lines with either a homozygous or a heterozygous E280A mutation in the PSEN1 gene. The mutation was introduced into an iPSC line from a healthy individual using the CRISPR-Cas9 technology...
February 7, 2019: Stem Cell Research
https://read.qxmd.com/read/30760687/-severe-coagulation-abnormality-during-treatment-for-ischemic-enteritis-in-an-older-patient-taking-a-direct-oral-anticoagulant
#2
Ichiro Deguchi, Takeshi Hayashi, Masaki Takao
An 85-year-old woman hospitalized for rehabilitation after cerebral infarction developed persistent bloody diarrhea and was transferred to our hospital (day 1). Contrast-enhanced computed tomography of the abdomen showed edematous thickening extending from the left side of the transverse colon to the rectum, with decreased mucosal enhancement. She was diagnosed with ischemic enteritis. She fasted and was treated with fluids and antibiotics. The bloody diarrhea stopped, and she was restarted on the direct oral anticoagulant (DOAC) edoxaban on day 5...
2019: Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
https://read.qxmd.com/read/30758763/risk-factors-for-recurrent-injuries-from-physical-violence-among-african-men-in-the-gambia
#3
Paul Bass, Wen-Yu Yu, Edrisa Sanyang, Mau-Roung Lin
While men are known to be at high risk of recurrent injuries from physical violence, the risk factors in African men have not been investigated. We conducted a matched case-control study to identify factors associated with recurrent injuries from physical violence in The Gambia. Eligible participants were injured male patients aged ≥ 15 years. Over the 12-month study period, 257 cases with recurrent injuries from physical violence, and 257 control patients each from two control groups (violence controls and nonviolence controls) were recruited from eight emergency rooms located in six districts of the Greater Banjul Metropolitan Area, The Gambia...
February 13, 2019: Journal of Community Health
https://read.qxmd.com/read/30745090/tisotumab-vedotin-in-patients-with-advanced-or-metastatic-solid-tumours-innovatv-201-a-first-in-human-multicentre-phase-1-2-trial
#4
Johann S de Bono, Nicole Concin, David S Hong, Fiona C Thistlethwaite, Jean-Pascal Machiels, Hendrik-Tobias Arkenau, Ruth Plummer, Robert Hugh Jones, Dorte Nielsen, Kristian Windfeld, Srinivas Ghatta, Brian M Slomovitz, James F Spicer, Jeffrey Yachnin, Joo Ern Ang, Paul Morten Mau-Sørensen, Martin David Forster, Dearbhaile Collins, Emma Dean, Reshma A Rangwala, Ulrik Lassen
BACKGROUND: Tisotumab vedotin is a first-in-human antibody-drug conjugate directed against tissue factor, which is expressed across multiple solid tumour types and is associated with poor clinical outcomes. We aimed to establish the safety, tolerability, pharmacokinetic profile, and antitumour activity of tisotumab vedotin in a mixed population of patients with locally advanced or metastatic (or both) solid tumours known to express tissue factor. METHODS: InnovaTV 201 is a phase 1-2, open-label, dose-escalation and dose-expansion study done at 21 centres in the USA and Europe...
February 7, 2019: Lancet Oncology
https://read.qxmd.com/read/30742039/flow-enhanced-vascularization-and-maturation-of-kidney-organoids-in-vitro
#5
Kimberly A Homan, Navin Gupta, Katharina T Kroll, David B Kolesky, Mark Skylar-Scott, Tomoya Miyoshi, Donald Mau, M Todd Valerius, Thomas Ferrante, Joseph V Bonventre, Jennifer A Lewis, Ryuji Morizane
Kidney organoids derived from human pluripotent stem cells have glomerular- and tubular-like compartments that are largely avascular and immature in static culture. Here we report an in vitro method for culturing kidney organoids under flow on millifluidic chips, which expands their endogenous pool of endothelial progenitor cells and generates vascular networks with perfusable lumens surrounded by mural cells. We found that vascularized kidney organoids cultured under flow had more mature podocyte and tubular compartments with enhanced cellular polarity and adult gene expression compared with that in static controls...
February 11, 2019: Nature Methods
https://read.qxmd.com/read/30737669/long-term-survival-outcome-between-living-donor-and-deceased-donor-liver-transplant-for-hepatocellular-carcinoma-intention-to-treat-and-propensity-score-matching-analyses
#6
Tiffany C L Wong, Kelvin K C Ng, James Y Y Fung, Albert A C Chan, Tan-To Cheung, Kenneth S H Chok, Jeff W C Dai, Chung-Mau Lo
BACKGROUND: Previous studies comparing outcomes of hepatocellular carcinoma (HCC) patients after living donor liver transplantation (LDLT) and deceased donor liver transplantation (DDLT) showed conflicting results, and most studies measured survival outcomes from the time of liver transplantation (LT). METHOD: This retrospective study was aimed to evaluate the long-term outcomes of HCC patients listed for LT using intention-to-treat (ITT) and propensity score matching (PSM) analyses...
February 8, 2019: Annals of Surgical Oncology
https://read.qxmd.com/read/30737337/biallelic-variants-in-lars2-and-kars-cause-deafness-and-ovario-leukodystrophy
#7
Marjo S van der Knaap, Marianna Bugiani, Marisa I Mendes, Lisa G Riley, Desiree E C Smith, Joëlle Rudinger-Thirion, Magali Frugier, Marjolein Breur, Joanna Crawford, Judith van Gaalen, Meyke Schouten, Marjolaine Willems, Quinten Waisfisz, Frederic Tran Mau-Them, Richard J Rodenburg, Ryan J Taft, Boris Keren, John Christodoulou, Christel Depienne, Cas Simons, Gajja S Salomons, Fanny Mochel
OBJECTIVE: To describe the leukodystrophy caused by pathogenic variants in LARS2 and KARS , encoding mitochondrial leucyl transfer RNA (tRNA) synthase and mitochondrial and cytoplasmic lysyl tRNA synthase, respectively. METHODS: We composed a group of 5 patients with leukodystrophy, in whom whole-genome or whole-exome sequencing revealed pathogenic variants in LARS2 or KARS . Clinical information, brain MRIs, and postmortem brain autopsy data were collected. We assessed aminoacylation activities of purified mutant recombinant mitochondrial leucyl tRNA synthase and performed aminoacylation assays on patients' lymphoblasts and fibroblasts...
February 8, 2019: Neurology
https://read.qxmd.com/read/30736742/virulence-factor-landscape-of-a-staphylococcus-aureus-sequence-type-45-strain-mcrf184
#8
Vijay Aswani, Fares Najar, Madhulatha Pantrangi, Bob Mau, William R Schwan, Sanjay K Shukla
BACKGROUND: We describe the virulence factors of a methicillin-sensitive Staphylococcus aureus sequence type (ST) 45 strain, MCRF184, (spa type t917), that caused severe necrotizing fasciitis in a 72-year-old diabetic male. The genome of MCRF184 possesses three genomic islands: a relatively large type III νSaα with 42 open reading frames (ORFs) that includes superantigen- and lipoprotein-like genes, a truncated νSaβ that consists mostly of the enterotoxin gene cluster (egc), and a νSaγ island with 18 ORFs including α-toxin...
February 8, 2019: BMC Genomics
https://read.qxmd.com/read/30733471/genome-analysis-of-a-thermophilic-exopolysaccharide-producing-bacterium-geobacillus-sp-wsucf1
#9
Jia Wang, Kian Mau Goh, David R Salem, Rajesh K Sani
Geobacillus sp. WSUCF1 is a Gram-positive, spore-forming, aerobic and thermophilic bacterium, isolated from a soil sample obtained from a compost facility. Strain WSUCF1 demonstrated EPS producing capability using different sugars as the carbon source. The whole-genome analysis of WSUCF1 was performed to disclose the essential genes correlated with nucleotide sugar precursor biosynthesis, assembly of monosaccharide units, export of the polysaccharide chain, and regulation of EPS production. Both the biosynthesis pathway and export mechanism of EPS were proposed based on functional annotation...
February 7, 2019: Scientific Reports
https://read.qxmd.com/read/30711971/clinical-significance-of-preoperative-hepatocellular-carcinoma-with-high-lens-culinaris-agglutinin-reactive-fraction-of-alpha-fetoprotein-but-low-alpha-fetoprotein
#10
Takanobu Yamao, Yo-Ichi Yamashita, Katsunori Imai, Naoki Umezaki, Masayo Tsukamoto, Yuki Kitano, Kota Arima, Tatsunori Miyata, Shigeki Nakagawa, Hirohisa Okabe, Hiromitsu Hayashi, Akira Chikamoto, Takatoshi Ishiko, Hideo Baba
BACKGROUND: The aim of this study was to verify the significance of high Lens culinaris agglutinin-reactive fraction of α-fetoprotein (AFP-L3) in patients with hepatocellular carcinoma (HCC) with low AFP. MATERIALS AND METHODS: There were 283 patients with low AFP who underwent initial hepatic resection with or without radiofrequency ablation for HCC. Patients were divided into two groups based on AFP-L3 values: >10%: high AFP-L3 (n=24); and ≤10%: low AFP-L3 (n=259)...
February 2019: Anticancer Research
https://read.qxmd.com/read/30702559/adjuvant-chemotherapy-improves-oncological-outcomes-of-resectable-intrahepatic-cholangiocarcinoma-a-meta-analysis
#11
Ka Wing Ma, Tan To Cheung, Brian Leung, Brian Wong Hoi She, Kenneth Siu Ho Chok, Albert Chi Yan Chan, Wing Chiu Dai, Chung Mau Lo
OBJECTIVE: To define the role of adjuvant chemotherapy in the management of resectable intrahepatic cholangiocarcinoma (ICC) by performing a meta-analysis. SUMMARY BACKGROUND DATA: Oncological benefit of adjuvant chemotherapy in resectable ICC remains controversial, high-level evidence in such context is lacking. METHOD: A comprehensive search using Pubmed, EMbase, and Web of Science was performed from inception to October 2018. Studies compared the survival of patients receiving adjuvant chemotherapy versus surgery alone were included...
February 2019: Medicine (Baltimore)
https://read.qxmd.com/read/30698137/reusable-blood-collection-tube-holders-are-implicated-in-nosocomial-hepatitis-c-virus-transmission
#12
Vincent C C Cheng, Shuk-Ching Wong, Sally C Y Wong, Siddharth Sridhar, Cyril C Y Yip, Jonathan H K Chen, James Fung, Kelvin H Y Chiu, Pak-Leung Ho, Sirong Chen, Ben W C Cheng, Chi-Lai Ho, Chung-Mau Lo, Kwok-Yung Yuen
No abstract text is available yet for this article.
February 2019: Infection Control and Hospital Epidemiology
https://read.qxmd.com/read/30694360/-promotion-of-physical-activity-for-older-patients-with-rheumatism-characteristics-of-inflammatory-rheumatic-diseases-against-the-background-of-physical-activity-recommendations
#13
REVIEW
A Golla, K Mattukat, W Mau
Due to the wide range of positive effects and the clear evidence of effectiveness, physical activity is one of the most important treatments for inflammatory rheumatic diseases. Because of the frequent overlap of disease and age-related aspects in older patients, the implementation of the German national physical activity recommendations has to be checked and accompanied by physicians. To get the older patients in motion, a patient-centered approach is required that takes the individual health problem(s) and the current context of life into account...
January 29, 2019: Zeitschrift Für Rheumatologie
https://read.qxmd.com/read/30682001/age-determinants-for-breast-surgery-using-the-choosing-wisely-initiative-for-early-stage-breast-cancer-treatment-strategies
#14
Kari Mau, Rochelle Ringer
Breast cancer treatment for women aged 70 years and older can be complicated by existing comorbidities, a shorter lifespan, and a greater risk of side effects from treatments such as chemotherapy. Identifying and continually assessing appropriate breast cancer treatment strategies in older women is important. This article highlights an approach to surgical treatment that demonstrates that age may not be the most important factor in surgical treatment for early-stage breast cancer.
February 1, 2019: Clinical Journal of Oncology Nursing
https://read.qxmd.com/read/30681164/prenatal-presentation-of-aicardi-gouti%C3%A3-res-syndrome-non-specific-phenotype-necessitates-exome-sequencing-for-definitive-diagnosis
#15
Nicolas Bourgon, Mathilde Lefebvre, Paul Kuentz, Julien Thevenon, Thibaud Jouan, Yannis Duffourd, Christophe Philippe, Frédéric Tran Mau-Them, Christine Durand, Faratanjona Harizay, Nicole Laurent, Thierry Rousseau, Laurence Faivre, Christel Thauvin-Robinet
No abstract text is available yet for this article.
January 25, 2019: Prenatal Diagnosis
https://read.qxmd.com/read/30660866/generation-of-a-set-of-isogenic-gene-edited-ipsc-lines-homozygous-for-all-main-apoe-variants-and-an-apoe-knock-out-line
#16
Benjamin Schmid, Kennie R Prehn, Natakarn Nimsanor, Blanca Irene Aldana Garcia, Ulla Poulsen, Ida Jørring, Mikkel A Rasmussen, Christian Clausen, Ulrike A Mau-Holzmann, Sarayu Ramakrishna, Ravi Muddashetty, Rachel Steeg, Kevin Bruce, Peter Mackintosh, Andreas Ebneth, Bjørn Holst, Alfredo Cabrera-Socorro
Alzheimer's disease (AD) is the most frequent neurodegenerative disease amongst the elderly. The SNPs rs429358 and rs7412 in the APOE gene are the most common risk factor for sporadic AD, and there are three different alleles commonly referred to as APOE-ε2, APOE-ε3 and APOE-ε4. Induced pluripotent stem cells (iPSCs) hold great promise to model AD as such cells can be differentiated in vitro to the required cell type. Here we report the use of CRISPR/Cas9 technology employed on iPSCs from a healthy individual with an APOE-ε3/ε4 genotype to obtain isogenic APOE-ε2/ε2, APOE-ε3/ε3, APOE-ε4/ε4 lines as well as an APOE-knock-out line...
January 4, 2019: Stem Cell Research
https://read.qxmd.com/read/30659221/investigation-of-cavity-enhanced-xeol-of-a-single-zno-microrod-by-using-multifunctional-hard-x-ray-nanoprobe
#17
Bi-Hsuan Lin, Xiao-Yun Li, Dai-Jie Lin, Bo-Lun Jian, Hsu-Cheng Hsu, Huang-Yen Chen, Shao-Chin Tseng, Chien-Yu Lee, Bo-Yi Chen, Gung-Chian Yin, Ming-Ying Hsu, Shih-Hung Chang, Mau-Tsu Tang, Wen-Feng Hsieh
The multifunctional hard X-ray nanoprobe at Taiwan Photon Source (TPS) exhibits the excellent ability to simultaneously characterize the X-ray absorption, X-ray excited optical luminescence (XEOL) as well as the dynamics of XEOL of materials. Combining the scanning electron microscope (SEM) into the TPS 23A end-station, we can easily and quickly measure the optical properties to map out the morphology of a ZnO microrod. A special phenomenon has been observed that the oscillations in the XEOL associated with the confinement of the optical photons in the single ZnO microrod shows dramatical increase while the X-ray excitation energy is set across the Zn K-edge...
January 18, 2019: Scientific Reports
https://read.qxmd.com/read/30658592/pneumocystis-jirovecii-related-spontaneous-pneumothorax-pneumomediastinum-and-subcutaneous-emphysema-in-a-liver-transplant-recipient-a-case-report
#18
Wong Hoi She, Kenneth S H Chok, Iris W S Li, Ka Wing Ma, Sui Ling Sin, Wing Chiu Dai, James Y Y Fung, Chung Mau Lo
BACKGROUND: Pneumocystis pneumonia (PCP) is a common opportunistic infection caused by Pneumocystis jirovecii. Its incidence at 2 years or more after liver transplant (LT) is < 0.1%. PCP-related spontaneous pneumothorax and/or pneumomediastinum is rare in patients without the human immunodeficiency virus, with an incidence of 0.4-4%. CASE PRESENTATION: A 65-year-old woman who had split-graft deceased-donor LT for primary biliary cirrhosis developed fever, dyspnea and dry coughing at 25 months after transplant...
January 18, 2019: BMC Infectious Diseases
https://read.qxmd.com/read/30656855/aquella-oligotrophica-gen-nov-sp-nov-a-new-member-of-the-family-neisseriaceae-isolated-from-laboratory-tap-water
#19
Kok-Gan Chan, Wah-Seng See-Too, Kah-Ooi Chua, Álvaro Peix, Kian Mau Goh, Kar-Wai Hong, Wai-Fong Yin, Li-Sin Lee
A bacterial strain designated as P08T was isolated from laboratory tap water during a water quality assessment in University of Malaya, Malaysia. The strain was a Gram-negative, rod-shaped, nonmotile, and aerobic bacterium. Complete genome of P08T comprised of a 2,820,660 bp chromosome with a G + C content of 36.43%. Both 16S rRNA phylogeny and phylogenetic tree inferred from the core gene matrix demonstrated that P08T formed a hitherto unknown subline within the family Neisseriaceae. Ortho average nucleotide identity (OrthoANI) values and the percentage of conserved proteins (POCP) calculated from complete genome sequence indicated low relatedness between P08T and its phylogenetic neighbors...
January 17, 2019: MicrobiologyOpen
https://read.qxmd.com/read/30639322/zmiz1-variants-cause-a-syndromic-neurodevelopmental-disorder
#20
Raphael Carapito, Ekaterina L Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Eva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Frédéric Tran Mau-Them, Nolwenn Jean-Marçais, Susan M Hiatt, Gregory M Cooper, Tatiana Tvrdik, Alison M Muir, Clémantine Dimartino, Maya Chopra, Jeanne Amiel, Christopher T Gordon, Fabien Dutreux, Aurore Garde, Christel Thauvin-Robinet, Xia Wang, Magalie S Leduc, Meredith Phillips, Heather P Crawford, Mary K Kukolich, David Hunt, Victoria Harrison, Mira Kharbanda, Robert Smigiel, Nina Gold, Christina Y Hung, David H Viskochil, Sarah L Dugan, Pinar Bayrak-Toydemir, Géraldine Joly-Helas, Anne-Marie Guerrot, Caroline Schluth-Bolard, Marlène Rio, Ingrid M Wentzensen, Kirsty McWalter, Rhonda E Schnur, Andrea M Lewis, Seema R Lalani, Noël Mensah-Bonsu, Jocelyn Céraline, Zijie Sun, Rafal Ploski, Carlos A Bacino, Heather C Mefford, Laurence Faivre, Olaf Bodamer, Jamel Chelly, Bertrand Isidor, Seiamak Bahram
ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor, and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental delay carrying variants in ZMIZ1. The associated features include growth failure, feeding difficulties, microcephaly, facial dysmorphism, and various other congenital malformations. Of these 19, 14 unrelated subjects carried de novo heterozygous single-nucleotide variants (SNVs) or single-base insertions/deletions, 3 siblings harbored a heterozygous single-base insertion, and 2 subjects had a balanced translocation disrupting ZMIZ1 or involving a regulatory region of ZMIZ1...
February 7, 2019: American Journal of Human Genetics
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