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Items 1 to 10 of about 10970
1. Fukuhara Y, Fuji N, Yamazaki N, Hirakiyama A, Kamioka T, Seo JH, Mashima R, Kosuga M, Okuyama T: A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan. Mol Genet Metab Rep; 2018 Mar;14:3-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
  • Pompe disease is an autosomal recessive disorder caused by acid α-glucosidase (GAA) deficiency, which results in the accumulation of glycogen in lysosomes in multiple tissues, including cardiac, skeletal, and smooth muscle cells.
  • Thus far, 558 sequence variants of the GAA gene have been published in the Pompe Disease Mutation Database, and some mutations appear with considerable frequency in particular ethnic groups, such as Caucasians, Taiwanese, Chinese, and Koreans.
  • However, the GAA mutation pattern in Japanese patients remains poorly understood.
  • We analyzed the relationship between the genetic and clinical features of 38 mostly Japanese patients with Pompe disease from 35 unrelated families.
  • We identified 28 different GAA gene mutations, including 7 novel mutations, by a GAA gene analysis. c.546G > T (22.9%) and c.1857C > G (14.3%) were the most common mutations and accounted for 37.1% of the total mutant alleles.
  • In the six patients with infantile-onset Pompe disease (IOPD), c.1857C > G was also the most common mutation.
  • In addition, there were 13 homozygotes (5 with the c.546G > T) among the 35 families, which is the highest frequency reported thus far.
  • Regarding the initial symptoms, cardiomegaly was the most common (3/6 = 50%) in IOPD patients, while muscle weakness was observed the most frequently in patients with late-onset Pompe disease (LOPD) (15/30 = 50%).
  • Notably, all IOPD patients who showed respiratory distress at the time of onset require respiratory assistance at present (4/4 = 100%).
  • Regarding the presenting symptoms, cardiomegaly (6/6 = 100%) and hepatomegaly (4/6 = 66.7%) were more commonly seen in IOPD, and muscle weakness (24/29 = 82.7%) was observed more frequently in LOPD.
  • Respiratory assistance is required at present in 33.3% of IOPD patients and 50% of LOPD patients, and 20% of IOPD patients and 29.6% of LOPD patients are wheelchair users.
  • These individual clinical courses may be influenced by the timing of the diagnosis and treatment; for example, in 2007, an ERT orphan drug for treatment of Pompe disease, Alglucosidase alfa, was made available in Japan, and there were 5 (5/6 = 83.3%) wheelchair users diagnosed from 2008 to 2009 (cases 32-38) and 4 (4/27 = 14.8%) from 2010 to 2015 (cases 1-31).
  • These findings underscore the importance of the early diagnosis and treatment.

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  • (PMID = 29124014.001).
  • [ISSN] 2214-4269
  • [Journal-full-title] Molecular genetics and metabolism reports
  • [ISO-abbreviation] Mol Genet Metab Rep
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Keywords] NOTNLM ; Acid α-glucosidase / Genotype-phenotype correlation / Lysosomal disease / Pompe disease
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2. Skrdlant LM, Armstrong RJ, Keidaisch BM, Lorente MF, DiGiusto DL: Detection of Replication Competent Lentivirus Using a qPCR Assay for VSV-G. Mol Ther Methods Clin Dev; 2018 Mar 16;8:1-7

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Detection of Replication Competent Lentivirus Using a qPCR Assay for VSV-G.
  • Lentiviral vectors are a common tool used to introduce new and corrected genes into cell therapy products for treatment of human diseases.
  • Although lentiviral vectors are ideal for delivery and stable integration of genes of interest into the host cell genome, they potentially pose risks to human health, such as integration-mediated transformation and generation of a replication competent lentivirus (RCL) capable of infecting non-target cells.
  • In consideration of the latter risk, all cell-based products modified by lentiviral vectors and intended for patient use must be tested for RCL prior to treatment of the patient.
  • Current Food and Drug Administration (FDA) guidelines recommend use of cell-based assays to this end, which can take up to 6 weeks for results.
  • However, qPCR-based assays are a quick alternative for rapid assessment of RCL in products intended for fresh infusion.
  • We describe here the development and qualification of a qPCR assay based on detection of envelope gene sequences (vesicular stomatitis virus G glycoprotein [<i>VSV-G</i>]) for RCL in accordance with Minimum Information for Publication of Quantitative Real-Time PCR Experiments (MIQE) guidelines.
  • Our results demonstrate the sensitivity, linearity, specificity, and reproducibility of detection of <i>VSV-G</i> sequences, with a low false-positive rate.
  • These procedures are currently being used in our phase 1 clinical investigations.

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  • (PMID = 29034262.001).
  • [ISSN] 2329-0501
  • [Journal-full-title] Molecular therapy. Methods & clinical development
  • [ISO-abbreviation] Mol Ther Methods Clin Dev
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Keywords] NOTNLM ; CAR T / PCR / WPRE / lentivirus
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3. Kozuki N, Katz J, Englund JA, Steinhoff MC, Khatry SK, Shrestha L, Kuypers J, Mullany LC, Chu HY, LeClerq SC, Tielsch JM: Impact of maternal vaccination timing and influenza virus circulation on birth outcomes in rural Nepal. Int J Gynaecol Obstet; 2018 Jan;140(1):65-72

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Impact of maternal vaccination timing and influenza virus circulation on birth outcomes in rural Nepal.
  • OBJECTIVE: To describe the effect of maternal vaccination on birth outcomes in rural Nepal, modified by timing of vaccination in pregnancy and influenza virus activity.
  • METHODS: A secondary analysis was conducted using data from two annual cohorts of a randomized controlled trial.
  • A total of 3693 pregnant women from Sarlahi District were enrolled between April 25, 2011, and September 9, 2013.
  • All participants were aged 15-40 years and received a trivalent inactivated influenza vaccine or placebo.
  • The outcome measures included birth weight, pregnancy length, low birth weight (<2500 g), preterm birth, and small-for-gestational-age birth.
  • RESULTS: Data were available on birth weight for 2741 births and on pregnancy length for 3623 births.
  • Maternal vaccination increased mean birthweight by 42 g (95% confidence interval [CI] 8-76).
  • The magnitude of this increase varied by season but was greatest among pregnancies with high influenza virus circulation during the third trimester.
  • Birth weight increased by 111 g (95% CI -51 to 273) when 75%-100% of a pregnancy's third trimester had high influenza virus circulation versus 38 g (95% CI -6 to 81) when 0%-25% of a pregnancy's third trimester had high influenza virus circulation.
  • However, these results were nonsignificant.
  • CONCLUSION: Seasonal maternal influenza vaccination in rural Nepal increased birth weight; the magnitude appeared larger during periods of high influenza virus circulation.
  • CLINICALTRIALS.GOV: NCT01034254.

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  • [Copyright] © 2017 The Authors. International Journal of Gynecology & Obstetrics published by John Wiley & Sons Ltd on behalf of International Federation of Gynecology and Obstetrics.
  • (PMID = 28984909.001).
  • [ISSN] 1879-3479
  • [Journal-full-title] International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
  • [ISO-abbreviation] Int J Gynaecol Obstet
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Keywords] NOTNLM ; Influenza / Low birth weight / Nepal / Pregnancy / Preterm / Small for gestational age / Vaccination
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4. Soria F, Marra G, Čapoun O, Soukup V, Gontero P: Prevention of bladder cancer incidence and recurrence: tobacco use. Curr Opin Urol; 2018 Jan;28(1):80-87

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Prevention of bladder cancer incidence and recurrence: tobacco use.
  • PURPOSE OF REVIEW: To summarize the current knowledge about smoking carcinogenesis in bladder cancer (BCa), individual susceptibility and impact of smoking on incidence and outcomes of nonmuscle invasive BCa (NMIBC) and muscle-invasive BCa (MIBC).
  • To assess the impact of smoking cessation on oncological outcomes.
  • RECENT FINDINGS: Smoking pattern, intensity, and duration are responsible for an increased risk of developing BCa and for worse tumor features at presentation.
  • Tobacco consumption is associated with a higher risk of recurrence in NMIBC and with an impaired intravesical therapy efficacy.
  • To date, the impact of smoking on oncological outcomes after radical surgery remains unclear.
  • SUMMARY: Smoking cessation decreases the risk of BCa and may also allow benefits on treatment outcomes.
  • Nonetheless, the magnitude of the effect remains unclear and prospective series with the specific aim of weighing smoking cessation on outcomes are needed.
  • Because even a 5-min counseling in the urology setting may be sufficient to significantly enhance smoking cessation rates, adequate knowledge of links between tobacco and BCa, from its molecular pathophysiology and its harms to benefits of cessation is paramount for urologists and for everyday clinical practice.

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  • (PMID = 28984720.001).
  • [ISSN] 1473-6586
  • [Journal-full-title] Current opinion in urology
  • [ISO-abbreviation] Curr Opin Urol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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5. Fang CY, Chen JS, Chang SK, Shen CH: Reversine induces autophagic cell death through the AMP-activated protein kinase pathway in urothelial carcinoma cells. Anticancer Drugs; 2018 Jan;29(1):29-39

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Reversine induces autophagic cell death through the AMP-activated protein kinase pathway in urothelial carcinoma cells.
  • Urothelial carcinoma is one of the most common malignancies of the urinary tract.
  • Effective treatment of advanced urothelial carcinoma remains a clinical challenge with poor outcomes in these patients.
  • Previous reports have shown that the expression of aurora kinase is associated with clinical stage and prognosis; hence, aurora kinases are potential targets in urothelial carcinoma therapy.
  • Reversine, an aurora kinase inhibitor, was analyzed for its cytotoxicity in this study.
  • Cell proliferation, flow cytometry, western blotting, and immunofluorescent assay were used to determine the effect of reversine on urothelial carcinoma cells.
  • The results showed that reversine significantly inhibits the growth of urothelial carcinoma cell lines.
  • Reversine induced cell cycle arrest at the G2/M phase, leading to autophagic cell death by activating the AMP-activated protein kinase pathway.
  • Reversine induced significant cell death in urothelial carcinoma cells.
  • Our results suggest that reversine may be a suitably small molecule for treating urothelial carcinoma in the future.

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  • (PMID = 28984683.001).
  • [ISSN] 1473-5741
  • [Journal-full-title] Anti-cancer drugs
  • [ISO-abbreviation] Anticancer Drugs
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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6. Högnäs G, Kivinummi K, Kallio HML, Hieta R, Ruusuvuori P, Koskenalho A, Kesseli J, Tammela TLJ, Riikonen J, Ilvesaro J, Kares S, Hirvikoski PP, Laurila M, Mirtti T, Nykter M, Kujala PM, Visakorpi T, Tolonen T, Bova GS: Feasibility of Prostate PAXgene Fixation for Molecular Research and Diagnostic Surgical Pathology: Comparison of Matched Fresh Frozen, FFPE, and PFPE Tissues. Am J Surg Pathol; 2018 Jan;42(1):103-115

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Feasibility of Prostate PAXgene Fixation for Molecular Research and Diagnostic Surgical Pathology: Comparison of Matched Fresh Frozen, FFPE, and PFPE Tissues.
  • Advances in prostate cancer biology and diagnostics are dependent upon high-fidelity integration of clinical, histomorphologic, and molecular phenotypic findings.
  • In this study, we compared fresh frozen, formalin-fixed paraffin-embedded (FFPE), and PAXgene-fixed paraffin-embedded (PFPE) tissue preparation methods in radical prostatectomy prostate tissue from 36 patients and performed a preliminary test of feasibility of using PFPE tissue in routine prostate surgical pathology diagnostic assessment.
  • In addition to comparing histology, immunohistochemistry, and general measures of DNA and RNA integrity in each fixation method, we performed functional tests of DNA and RNA quality, including targeted Miseq RNA and DNA sequencing, and implemented methods to relate DNA and RNA yield and quality to quantified DNA and RNA picogram nuclear content in each tissue volume studied.
  • Our results suggest that it is feasible to use PFPE tissue for routine robot-assisted laparoscopic prostatectomy surgical pathology diagnostics and immunohistochemistry, with the benefit of significantly improvedDNA and RNA quality and RNA picogram yield per nucleus as compared with FFPE tissue.
  • For fresh frozen, FFPE, and PFPE tissues, respectively, the average Genomic Quality Numbers were 7.9, 3.2, and 6.2, average RNA Quality Numbers were 8.7, 2.6, and 6.3, average DNA picogram yields per nucleus were 0.41, 0.69, and 0.78, and average RNA picogram yields per nucleus were 1.40, 0.94, and 2.24.
  • These findings suggest that where DNA and/or RNA analysis of tissue is required, and when tissue size is small, PFPE may provide important advantages over FFPE.
  • The results also suggest several interesting nuances including potential avenues to improve RNA quality in FFPE tissues and confirm recent suggestions that some DNA sequence artifacts associated with FFPE can be avoided.

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  • (PMID = 28984675.001).
  • [ISSN] 1532-0979
  • [Journal-full-title] The American journal of surgical pathology
  • [ISO-abbreviation] Am. J. Surg. Pathol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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7. Agarwal CA, Johns D, Tanner PB, Andtbacka RHI: Osseointegrated Prosthetic Ear Reconstruction in Cases of Skin Malignancy: Technique, Outcomes, and Patient Satisfaction. Ann Plast Surg; 2018 Jan;80(1):32-39

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Osseointegrated Prosthetic Ear Reconstruction in Cases of Skin Malignancy: Technique, Outcomes, and Patient Satisfaction.
  • BACKGROUND: Ear reconstruction with osseointegrated prosthetic implants is a well-established method of reconstruction after resection of skin malignancies on the external ear.
  • There is limited literature reporting technique, outcomes, and patient satisfaction.
  • METHODS: We evaluated our outcomes over a 5-year period looking at osseointegrated prosthetic reconstruction after auriculectomy for external ear skin malignancies.
  • We report demographics, disease characteristics, technique, and complications.
  • The patients were surveyed looking at 6 domains: satisfaction, stability, comfort, ease of use, level of self-consciousness, and preoperative education.
  • RESULTS: Of the 21 patients included in the study, 14 (67%) were treated for invasive melanoma (Breslow depth, >0.8mm), 4 (19%) for squamous cell carcinoma, 2 (10%) for basal cell carcinoma, and 1 (5%) for an atypical fibroxanthoma.
  • Complications rates were low.
  • There were no cases of infection, hematoma, or bleeding.
  • In 2 patients (9.5%), 1 of the 3 implants failed to osseointegrate and was removed, but the prosthesis was able to be secured with the remaining 2 posts.
  • There were 3 cases (14%) of delayed healing and 1 with excessive granulation tissue growth.
  • Survey results showed high satisfaction in all measured domains.
  • CONCLUSIONS: In cases of skin malignancy requiring total or subtotal auriculectomy, prosthetic ear reconstruction with osseointegrated implants is a good alternative to reconstruction with autologous tissue.
  • Our experience demonstrates good outcomes and with low complication rates and high patient satisfaction.

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  • (PMID = 28984657.001).
  • [ISSN] 1536-3708
  • [Journal-full-title] Annals of plastic surgery
  • [ISO-abbreviation] Ann Plast Surg
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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8. van Mens LJJ, van de Sande MGH, Baeten DLP: New treatment paradigms in spondyloarthritis. Curr Opin Rheumatol; 2018 Jan;30(1):79-86

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] New treatment paradigms in spondyloarthritis.
  • PURPOSE OF REVIEW: The review presents the recent rapid expansion of therapeutical options in spondyloarthritis.
  • Additionally, it focuses on the importance of additional questions raised by the growing therapeutic possibilities related to the optimal use of these drugs.
  • RECENT FINDINGS: The emergence of new treatment options opens new avenues and opportunities for treating patients with nonresponse, contraindications, or intolerance for classic drugs.
  • However, it becomes more relevant than ever to define not only drugs and treatment options but also treatment strategies.
  • We address current literature and remaining questions on strategies such as early intervention, combination treatment, personalized medicine, and treat-to-target.
  • SUMMARY: Not only the treatment as such, but also the treatment strategy is crucial to reveal the full therapeutic potential and benefit for patients.
  • Whereas cautious but crucial steps have been taken in the last years to explore these aspects, related to timing and sequence of treatment (including combination treatments), stratified medicine approaches, and treat-to-target strategies, it is now time for full-scale investment in prospective strategy trials.

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  • (PMID = 28984648.001).
  • [ISSN] 1531-6963
  • [Journal-full-title] Current opinion in rheumatology
  • [ISO-abbreviation] Curr Opin Rheumatol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
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9. Cokkinos DD, Antypa EG, Tsolaki S, Skylakaki M, Skoura A, Mellou V, Kalogeropoulos I: Contrast-enhanced ultrasound examination of the gallbladder and bile ducts: A pictorial essay. J Clin Ultrasound; 2018 Jan;46(1):48-61

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Contrast-enhanced ultrasound examination of the gallbladder and bile ducts: A pictorial essay.
  • The gallbladder and bile ducts are usually assessed initially with conventional gray-scale ultrasound (US).
  • Contrast enhanced US (CEUS) is used when a diagnosis cannot be reached with conventional US.
  • CEUS is easy to learn and perform.
  • US contrast agents can be safely administered in patients with renal function impairment.
  • In this pictorial essay the physics, examination technique and indications of CEUS for examining the gallbladder and bile ducts are reviewed.
  • Gallbladder indications include elucidating normal variants, differentiating sludge from neoplastic lesions, benign and malignant pathology, infection, wall rupture and hemobilia.
  • In the biliary tree CEUS is used for studying benign and malignant tumors, including metastases and cholangiocarcinoma, as well as intrabiliary injection.

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  • [Copyright] © 2017 Wiley Periodicals, Inc.
  • (PMID = 28984361.001).
  • [ISSN] 1097-0096
  • [Journal-full-title] Journal of clinical ultrasound : JCU
  • [ISO-abbreviation] J Clin Ultrasound
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Keywords] NOTNLM ; CEUS / bile ducts / contrast agents / gallbladder / ultrasound
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10. Söylemez MA, Güven O: Detailed positron annihilation lifetime spectroscopic investigation of atrazine imprinted polymers grafted onto PE/PP non-woven fabrics. J Mol Recognit; 2018 Jan;31(1)

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Detailed positron annihilation lifetime spectroscopic investigation of atrazine imprinted polymers grafted onto PE/PP non-woven fabrics.
  • This study presents the preparation of molecularly imprinted matrices by using radiation-induced grafting technique onto polyethylene/polypropylene (PE/PP) non-woven fabrics.
  • Atrazine imprinted polymers were grafted onto PE/PP non-woven fabrics through the use of methacrylic acid (MAA) and ethylene glycol dimethylacrylate (EGDMA) as the functional monomer and crosslinking agent, respectively.
  • Grafted MIPs were characterized by attenuated total reflectance Fourier transform infra-red spectroscopy (ATR-FTIR), X-ray photoelectron spectroscopy (XPS), elemental analysis, scanning electron microscopy (SEM), and positron annihilation lifetime spectroscopy (PALS).
  • The average diameter of free volume holes was determined as 0.612 nm which correlates very well with the size of template molecule atrazine, 0.512 nm.
  • Binding behaviors were investigated against various factors, such as concentration of template molecule, pH, and contact time.
  • Furthermore, the specific selectivity of grafted MIP on non-woven fabric was studied by using other common triazine compounds, such as simazine and metribuzine which show structural similarities to atrazine.
  • The specific binding values for atrazine, simazine, and metribuzine were determined as 40%, 2.5%, and 1.5%, respectively.

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  • [Copyright] Copyright © 2017 John Wiley & Sons, Ltd.
  • (PMID = 28983989.001).
  • [ISSN] 1099-1352
  • [Journal-full-title] Journal of molecular recognition : JMR
  • [ISO-abbreviation] J. Mol. Recognit.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Keywords] NOTNLM ; atrazine imprinted polymers / positron annihilation lifetime spectroscopy (PALS) / radiation induced grafting
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