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A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy

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A-44G transition in SMN2 intron 6 protects patients with spi...

The GABA Antagonist Picrotoxin Attenuates an Ethanol-Induced Taste Aversion in Taste Aversion-Prone Rats

中国神经科学学会第十二届全国学术会议

作者： Xingxing Wu Shu-Huei Wang Junjie Sun Adrian R.Krainer Yimin Hua Thomas W.prior Jiangsu Key Laboratory of Translational Research and Therapy for Neuro-PsychoDiseases The Second Affiliated Hospital of Soochow University Department of Pathology Ohio State University Cold Spring Harbor Laboratory Cold Spring Harbor Institute of Neuroscience Soochow University

Spinal muscular atrophy(SMA) is a neuromuscular disease caused by reduced expression of survival of motor neuron(SMN), a protein expressed in humans by two paralogous genes, SMN1 and SMN2. These genes are nearly identical, except for 10 single-nucleotide differences and a 5-nucleotide insertion in SMN2. SMA is subdivided into four main types, with type I being the most severe. SMN2 copy number is a key positive modifier of the disease, but it is not always inversely correlated with clinical severity. We previously reported the c.859 G>C variant in SMN2 exon 7 as a positive modifier in several patients. We have now identified A-44 G as an additional positive disease modifier, present in a group of patients carrying 3 SMN2 copies but displaying milder clinical phenotypes than other patients with the same SMN2 copy number. One of the three SMN2 copies appears to have been converted from SMN1, but except for the C6 T transition, no other changes were detected. Analyzed with minigenes, SMN1 C6 T displayed a 0% increase in exon 7 inclusion, compared to SMN2. Through systematic mutagenesis, we found that the improvement in exon 7 splicing is mainly attributable to the A-44 G transition in intron 6. Using RNA-affinity chromatography and mass spectrometry, we further uncovered binding of the RNA-binding protein Hu R to the-44 region, where it acts as a splicing repressor. The A-44 G change markedly decreases the binding affinity of Hu R, resulting in a moderate increase in exon 7 inclusion.

关键词： SMA SMN2 copy number splicing silencer HuR RNA binding protein

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Neuroscience & Medicine 2011年第4期2卷 363-369页

作者： Joseph Tkacz stephen Hobbs Ralph Elkins 不详

The aversive properties of alcohol can be examined by using ethanol as a conditioning agent in a taste aversion (TA) paradigm. However, there is often variability in how organisms respond to the aversive properties of alcohol. Using a selectively bred line of TA-prone (TAP) rats, the present study sought to determine if antagonizing the GABA receptor complex with picrotoxin could block the acquisition of an ethanol-based conditioned aversion to a normally preferred fluid. Fifty TAP rats were randomly divided into 5 groups. In the two experimental groups, rats were pretreated with i.p. injections of low or high doses of the GABA Aantagonist picrotoxin prior to undergoing taste aversion conditioning —wherein consumption of a novel saccharin solution (0.1%) was followed by an i.p. injection of ethanol (1.5 mg/kg). In the primary control group, rats were treated identically, except that isotonic saline was substituted for picrotoxin. In the non-conditioning and pseudo-conditioning control groups, rats did not receive an ethanol-saccharin pairing but did receive a picrotoxin injection. Repeated measures ANOVA revealed that animals in the picrotoxin groups displayed significantly weaker TAs than the primary control group (p 0.05) as measured by post-conditioning, two-bottle saccharin preference scores. Picrotoxin hinders the acquisition of an ethanol-induced TA, thereby supporting the hypothesis that the GABA system plays a central role in ethanol’s motivational effects. Possible mechanisms include 1) picrotoxin attenuates negative effects of ethanol, 2) picrotoxin interferes with the central associative processes that promote TA conditioning or 3) some combination of 1 and 2.

关键词： Conditioned Taste Aversion Ethanol GABA Picrotoxin Rats

Parvovirus B19 induced hepatic failure in an adult requiring liver transplantation

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World Journal of Gastroenterology 2009年第32期15卷 4067-4069页

作者： Darin S Krygier Urs P Steinbrecher Martin Petric Siegfried R Erb stephen W Chung Charles H Scudamore Andrzej K Buczkowski Eric M Yoshida Division of Gastroenterology Department of MedicineVancouver General HospitalVancouverBC V5Z 1M9Canada British Columbia Center for Disease Control VancouverBC V5Z 4R4Canada Department of Surgery Faculty of MedicineVancouver General HospitalVancouverBC V5Z 1M9Canada

Parvovirus B19 induced acute hepatitis and hepatic failure have been previously reported, mainly in children. Very few cases of parvovirus induced hepatic failure have been reported in adults and fewer still have required liver transplantation. We report the case of a 55-year-old immunocompetent woman who developed fulminant hepatic failure after acute infection with Parvovirus B19 who subsequently underwent orthotopic liver transplantation. This is believed to be the first reported case in the literature in which an adult patient with fulminant hepatic failure associated with acute parvovirus B19 infection and without hematologic abnormalities has been identified prior to undergoing liver transplantation. This case suggests that Parvovirus B19 induced liver disease can affect adults, can occur in the absence of hematologic abnormalities and can be severe enough to require liver transplantation.

关键词： Parvovirus B19 Fulminant hepatic failure Orthotopic liver transplant Fulminant hepatitis

DEXA overestimates bone mineral density in adults with knee replacements

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Sports Medicine and Health Science 2020年第4期2卷 211-215页

作者： Katharine D.Harper Terry A.Clyburn stephen J.Incavo Bradley S.Lambert Department of Orthopedics&Sports Medicine Houston Methodist Hospital6445 Main StreetOutpatient CenterSuite 2500HoustonTXUnited States Department of Orthopedics Washington DC VA Medical Center50 Irving St.NWWashington D.CUnited States

We examined bone mineral density(BMD)measurements made by dual-energy-xray-absorptiometry(DEXA)taken from 100 patients(♂46/♀54,66±6yr)who previously underwent single total-knee arthroplasty(TKA)to determine if automated software-based artifact detection(ASAD)adequately removes implant artifact from the DXA image before analysis and if potential inaccuracies could be overcome through manual artifact correction(MAC).We also sought to determine if software-based inaccuracies would result in fracture risk misclassification(Low-BMD/Osteopenia=Young-Adult T-Score<−1).Select Results:When using ASAD,limbs with implants had higher BMD(+12.0±1.7%,p<0.001)compared to control limbs resulting in a 2.5±0.2%overestimation of total-body BMD(single implant).Consequently,the prevalence of osteopenia in 95%of patients who would have been observed to have low leg BMD(18/19 patients)and 80%of those found to have low total-body BMD(4/5 patients)would have gone *** overestimation was eliminated when using *** results reveal a potential issue with ASAD for total-body DEXA scans in TKA patients and highlight the importance of careful review and MAC in those with joint replacements before making diagnostic decisions.

关键词： Dual-energy-xray-absorptiometry DXA DEXA Bone density Total joint replacement Arthroplasty Osteopenia Osteoporosis

Use of Three Dimensional Conformal Radiation Therapy for Node Positive Breast Cancer Does Not Result in Excess Lung and Heart Irradiation

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International Journal of Medical Physics, Clinical Engineering and Radiation Oncology 2017年第1期6卷 1-9页

作者： Phillip prior Irina Sparks J. Frank Wilson Joseph Bovi Adam Currey Julie Bradley Tracy Kelly X. Allen Li Julia R White Department of Radiation Oncology Medical College of Wisconsin Milwaukee WI USA Department of Radiation Oncology Ohio State University Columbus OH USA

Purpose: This work evaluates the use of target and organs at risk (OAR) dose-volume goals in 3D conformal radiotherapy (3DCRT) planning for node positive breast cancer (NPBC) patients undergoing regional nodal irradiation after lumpectomy/mastectomy. Methods: Dosimetric data for 262 NPBC patients receiving regional nodal and whole breast/chest wall (WB/CW) irradiation from 2000-2009 were analyzed. In all cases, target & OAR volumes were delineated on treatment CT scans for field generation and dose-volume histograms (DVHs) were generated. Cases were analyzed to identify how frequently they met treatment planning institutional dose-volume goals (“institutional guidelines” & standardized in 2005) and how this would affect OAR doses. Results: The incidence of cases from 2000-2009 meeting current institutional guidelines improved over the study period. Target coverage improved from 2005-2009, when guidelines were followed as a part of the plan approval. Those cases from 2000-2004 meeting acceptable target goals were found to be significantly different from those cases from 2005-2009 (p < 0.01). However, no significant difference between cases meeting OAR goals for plans from 2000-2004 versus 2005-2009 was found. Conclusions: The use of institutional guidelines in 3DCRT for WB/CW and regional nodal irradiation for NPBC patients improved target coverage without a statistically significant increase in heart and lung doses.

关键词： Node Positive Breast Cancer Dose-Volume Goals Target Coverage CT Based Planning

Impact of chlorine exposure time on disinfection byproduct formation in the presence of iopamidol and natural organic matter during chloramination

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Journal of Environmental Sciences 2019年第4期31卷 204-214页

作者： Nana Osei B.Ackerson Alexis H.Killinger Hannah K.Liberatore Thomas A.Ternes Michael J.Plewa Susan D.Richardson stephen E.Duirk Department of Civil Engineering University of Akron Department of Chemistry and Biochemistry University of South Carolina Federal Institute of Hydrology (BfG) Department of Crop Sciences and Safe Global Water Institute and NSF Science and Technology Center of Advanced Materials for the Purification of Water with Systems University of Illinois at Urbana-Champaign

Chloramines,in practice,are formed onsite by adding ammonia to chlorinated drinking water to achieve the required *** regulated disinfection byproducts(DBPs)are reduced during chloramine disinfection,other DBPs such as iodinated(iodo-)DBPs,that elicit greater toxicity are *** objective of this study was to investigate the impact of prechlorination time on the formation of both halogen-specific total organic halogen(TOX)and iodo/chlorinated(chloro-)DBPs during prechlorination/chloramination in source waters(SWs)containing iopamidol,an X-ray contrast *** SW(BSW)and Cleveland SW(CSW)containing iopamidol were prechlorinated for 5–60 min and afterwards chloraminated for 72 hr with ammonium *** contact time(CCT)did not significantly impact total organic iodine(TOI)concentrations after prechlorination or *** of total organic chlorine(TOCl)formed during prechlorination did not significantly change regardless of pH and prechlorination time,whileTOClappearedtodecreaseafter 72 ***(CHCl_2I)formation during prechlorination did not exhibit any significant trends as a function of p H or CCT,but after chloramination,significant increases were observed at pHs 6.5 and 7.5 with respect to ***-HAAs were not formed during prechlorination but were detected after *** quantities of chloroform(CHCl_3)and trichloroacetic acid(TCAA)were formed during prechlorination but formation ceased upon ammonia ***,prechlorination studies should measure TOX and DBP concentrations prior to ammonia addition to obtain data regarding the initial conditions.

关键词： Prechlorinaton Iopamidol Monochloramine Disinfection byproducts(DBPs) Total organic chlorine(TOCl) Total organic iodine(TOI)

Associations between concussion and risk of diagnosis of psychological and neurological disorders:a retrospective population-based cohort study

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Family Medicine and Community Health 2020年第3期8卷 27-35页

作者： Marc P Morissette Heather J prior Robert B Tate John Wade Jeff R S Leiter Pan Am Clinic Foundation WinnipegManitobaCanada Applied Health Sciences Faculty of Graduate StudiesUniversity of ManitobaWinnipegManitobaCanada Manitoba Centre for Health Policy Rady Faculty of Health SciencesUniversity of ManitobaWinnipegManitobaCanada Community Health Sciences Rady Faculty of Health SciencesUniversity of ManitobaWinnipegManitobaCanada Rady Faculty of Health Sciences University of ManitobaWinnipegManitobaCanada Faculty of Kinesiology and Recreation Management University of ManitobaWinnipegManitobaCanada

Objective To investigate associations between concussion and the risk of follow-up diagnoses of attention-deficit hyperactivity disorder(ADHD),mood and anxiety disorders(MADs),dementia and Parkinson’s *** A retrospective population-based cohort *** Administrative health data for the Province of Manitoba between 1990-1991 and *** A total of 47483 individuals were diagnosed with a concussion using International Classification of Diseases(ICD)codes(ICD-9-CM:850;ICD-10-CA:S06.0).All concussed subjects were matched with healthy controls at a 3:1 ratio based on age,sex and geographical *** between concussion and conditions of interest diagnosed later in life were assessed using a stratified Cox proportional hazards regression model,with adjustments for socioeconomic status and pre-existing medical *** 28021 men(mean age±SD,25±18 years)and 19462 women(30±21 years)were included in the concussion group,while 81871 men(25±18 years)and 57159 women(30±21 years)were included in the matched control *** was associated with adjusted hazard ratios of 1.39(95%CI 1.32 to 1.46,p<0.001)for ADHD,1.72(95%CI 1.69 to 1.76;p<0.001)for MADs,1.72(95%CI 1.61 to 1.84;p<0.001)for dementia and 1.57(95%CI 1.41 to 1.75;p<0.001)for Parkinson’s *** Concussion was associated with an increased risk of diagnosis for all four conditions of interest later in life.

关键词： diagnosis disorders matched

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风寒指数研究

气象科技 1988年第6期 28-32页

作者： J.C.Dixon M.J.prior 周毅

本文描述了在伴有低温的强风风寒效应量化处理上应用最广泛的计算公式,风寒效应以风寒指数(因子)和风寒相当(视在)温度表示。本文还就公式的应用和英国London/Heathrow的风寒气候学进行了讨论。

关键词：风寒相当温度损耗率热量方程风寒指数气温

Evaluation of biogenic markers-based phenotyping for resistance to Aphanomyces root rot in field pea

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Information Processing in Agriculture 2022年第1期9卷 1-10页

作者： Afef Marzougui Abirami Rajendran D.Scott Mattinson Yu Ma Rebecca J.McGee Manuel Garcia-Perez stephen P.Ficklin Sindhuja Sankaran Department of Biological Systems Engineering Washington State UniversityPullmanWAUnited States Department of Horticulture Washington State UniversityPullmanWAUnited States United States Department of Agriculture-Agricultural Research Service Grain Legume Genetics and Physiology Research UnitWashington State UniversityPullmanWAUnited States

Biogenic volatile organic compounds(VOCs)emitted by plants can reveal information about plant adaptation,defense processes,and biological ***,such VOC data may be utilized to capture phenotypic plant responses to the *** this study,the main objective was to evaluate the potential of biogenic compounds,including VOCs,to phenotype two pea cultivars,Ariel(susceptible)and Hampton(high levels of partial resistance)for resistance to Aphanomyces root rot *** were monitored non-destructively for VOC emission at three-time points(15,20,and 30 days after inoculation,DAI)using dynamic headspace sampling with gas chromatography-flame ionization detec-tion(GC-FID)system,as well as destructively at the end of the experiments,using solvent extraction and pyrolysis of both shoot and root tissues.A non-inoculated control(mock-inoculated with distilled water)was utilized to compare the plant responses within a *** common chemical peaks between control and inoculated samples of both culti-vars(RT_(cm))were analyzed after normalizing the relative peak intensity of inoculated samples with those of control samples,prior to a comparison between *** addi-tion,unique chemical peaks(RT_(uq))present in inoculated samples,but not in control sam-ples were also identified and their relative peak intensities were *** the released green leaf volatiles(RT_(cm)),the normalized relative peak intensity of hexanal emis-sion,at 20 DAI,was higher in Ariel than that of *** addition,several putative chemical peaks(both RT_(cm) and RT_(uq)),previously known as indicators for disease response,exhibited some differences in their emission rates between pea cultivars in at least one of the time *** destructive sampling revealed that shoot samples produced more putative unique biomarkers(RT_(uq))than the root *** on the differences in puta-tive chemical peaks between cultivars,this initial study supports the concept of utilizat

关键词： Plant breeding Pulse crop Volatile organic compounds Plant phenotyping Biotic stress