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1.
Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity 总被引:1,自引:0,他引:1
Dickinson JL Sale MM Passmore A FitzGerald LM Wheatley CM Burdon KP Craig JE Tengtrisorn S Carden SM Maclean H Mackey DA 《Clinical & experimental ophthalmology》2006,34(7):682-688
Background: To examine the contribution of mutations within the Norrie disease (NDP) gene to the clinically similar retinal diseases Norrie disease, X‐linked familial exudative vitreoretinopathy (FEVR), Coat’s disease and retinopathy of prematurity (ROP). Methods: A dataset comprising 13 Norrie‐FEVR, one Coat’s disease, 31 ROP patients and 90 ex‐premature babies of <32 weeks’ gestation underwent an ophthalmologic examination and were screened for mutations within the NDP gene by direct DNA sequencing, denaturing high‐performance liquid chromatography or gel electrophoresis. Controls were only screened using denaturing high‐performance liquid chromatography and gel electrophoresis. Confirmation of mutations identified was obtained by DNA sequencing. Results: Evidence for two novel mutations in the NDP gene was presented: Leu103Val in one FEVR patient and His43Arg in monozygotic twin Norrie disease patients. Furthermore, a previously described 14‐bp deletion located in the 5′ unstranslated region of the NDP gene was detected in three cases of regressed ROP. A second heterozygotic 14‐bp deletion was detected in an unaffected ex‐premature girl. Only two of the 13 Norrie‐FEVR index cases had the full features of Norrie disease with deafness and mental retardation. Conclusion: Two novel mutations within the coding region of the NDP gene were found, one associated with a severe disease phenotypes of Norrie disease and the other with FEVR. A deletion within the non‐coding region was associated with only mild‐regressed ROP, despite the presence of low birthweight, prematurity and exposure to oxygen. In full‐term children with retinal detachment only 15% appear to have the full features of Norrie disease and this is important for counselling parents on the possible long‐term outcome. 相似文献
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Seewaboon Sireeratawong Parirat Khonsung Urarat Nanna Supaporn Vannasiri Nirush Lertprasertsuke Tipaya Singhalak Noppamas Soonthornchareonnon Kanjana Jaijoy 《African journal of traditional, complementary, and alternative medicines》2012,9(4):519-529
Learng Pid Samud (LPS) recipe is a traditional remedy in Thai folk medicine to ease the common diarrhea. The anti-diarrheal potential of LPS recipe was herein examined in vitro using a guinea-pig ileum model. The LPS exerted an inhibitory effect on acetylcholine-induced smooth muscle contraction in the guinea pig ileum. Significantly, not only did the LPS reduce the total amount of feces in the induced diarrhea rats, but also the intestinal transit in the charcoal meal test. A single oral administration with the recipe at 5,000 mg/kg did not cause acute toxicity and the daily oral administration (1,000, 2,000 and 4,000 mg/kg) for 90 days in rats did not produce any toxic signs and symptoms. In conclusion, the Learng Pid Samud recipe remedy is evidently safe and effective for the anti-diarrheal treatment which supports its therapeutic uses in the alternative medicine. 相似文献
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Supaporn Kaewpongsri Chonlaphat Sukasem Chutatip Srichunrusami Ekawat Pasomsub Julien Zwang Wantanit Pairoj Wasun Chantratita 《Molecular and cellular probes》2010,24(6):387-395
In order to characterize A/H5N1 viral sequences, a bioinformatics approach accurately identified viral sequences from discovery of a sequence signature, which provided enough distinctive information for sequence identification. Eight highly pathogenic H5N1 viral isolations were collected from different areas of Thailand between 2003 and 2006, and were used for analysis of H5N1 genotypic testing with a semiconductor-based oligonucleotide microarray. All H5N1 samples and H1N1, H4N8 negative controls were correctly subtyped. Sensitivity of the eight oligonucleotide probes, with optimized cut-offs, ranged from 70% (95% CI 65–75) to 87% (95% CI 84–91), and the corresponding Kappa values ranged from 0.76 (95% CI 0.72–0.80) to 0.86 (95% CI 0.83–0.89). Semi-conductor-based oligonucleotide array and oligonucleotide probes corresponded well when detecting H5N1. After fully correcting the subtype from the result of microarray signal intensity, the microarray output method combined with bioinformatics tools, identified and monitored genetic variations of H5N1. Capability of distinguishing different strains of H5N1 from Thailand was the outstanding feature of this assay. Ninety percent of HA and NA (4/5) genes were sequenced correctly, in accordance with previous examinations performed by classical diagnostic methods. The low-medium-high bioinformatics resolutions were able to predict an epidemic strain of H5N1. This study also showed the advantage of using a large genotypic database to predict the epidemic strain of H5N1. However, the monitoring protocol of this new strain has been recommended for further study with a large-scale sample. 相似文献
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Hemachudha T Wacharapluesadee S Lumlertdaecha B Orciari LA Rupprecht CE La-Ongpant M Juntrakul S Denduangboripant J 《The Journal of infectious diseases》2003,188(7):960-966
Two distinct clinical patterns, encephalitic (furious) and paralytic (dumb), have been recognized in human rabies. It has been postulated that different rabies virus variants associated with particular vectors may be responsible for these different clinical manifestations. Analysis of the glycoprotein (G), nucleoprotein (N), and phosphoprotein (P) genes of rabies viruses from 2 human cases of encephalitic rabies and from 2 human cases of paralytic rabies demonstrated only minor nucleotide differences. Deduced amino-acid patterns of the N protein were identical in both human and canine samples that came from the same geographic location, regardless of the clinical form. All differences in amino-acid patterns of the G protein were found outside the ectodomain, in either the signal peptide or the transmembrane and endodomains. None of the amino-acid differences of the P protein was within the interactive site with dynein. These findings support the concept that clinical manifestations of rabies are not explained solely by the associated rabies virus variant. 相似文献
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Supaporn Wacharapluesadee Thongchai Kaewpom Weenassarin Ampoot Siriporn Ghai Worrawat Khamhang Kanthita Worachotsueptrakun Phanni Wanthong Chatchai Nopvichai Thirawat Supharatpariyakorn Opass Putcharoen Leilani Paitoonpong Gompol Suwanpimolkul Watsamon Jantarabenjakul Pasin Hemachudha Artit Krichphiphat Rome Buathong Tanarak Plipat Thiravat Hemachudha 《Journal of medical virology》2020,92(10):2193-2199
In the age of a pandemic, such as the ongoing one caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the world faces a limited supply of tests, personal protective equipment, and factories and supply chains are struggling to meet the growing demands. This study aimed to evaluate the efficacy of specimen pooling for testing of SARS-CoV-2 virus, to determine whether costs and resource savings could be achieved without impacting the sensitivity of the testing. Ten previously tested nasopharyngeal and throat swab specimens by real-time polymerase chain reaction (PCR), were pooled for testing, containing either one or two known positive specimens of varying viral concentrations. Specimen pooling did not affect the sensitivity of detecting SARS-CoV-2 when the PCR cycle threshold (Ct) of original specimen was lower than 35. In specimens with low viral load (Ct > 35), 2 of 15 pools (13.3%) were false negative. Pooling specimens to test for Coronavirus Disease 2019 infection in low prevalence (≤1%) areas or in low risk populations can dramatically decrease the resource burden on laboratory operations by up to 80%. This paves the way for large-scale population screening, allowing for assured policy decisions by governmental bodies to ease lockdown restrictions in areas with a low incidence of infection, or with lower-risk populations. 相似文献
9.
HPV genotyping in cervical cancer in Northern Thailand: adapting the linear array HPV assay for use on paraffin-embedded tissue 总被引:3,自引:1,他引:2
Siriaunkgul S Suwiwat S Settakorn J Khunamornpong S Tungsinmunkong K Boonthum A Chaisuksunt V Lekawanvijit S Srisomboon J Thorner PS 《Gynecologic oncology》2008,111(3):555-560
ObjectiveThe objective of this study was to review our experience with abdominal radical trachelectomy in patients with early-stage cervical cancer.MethodsWe performed a retrospective review of all patients who underwent an abdominal radical trachelectomy at the Instituto de Cancerologia—Clinica las Americas in Medellin, Colombia, between April 2002 and January 2008. Data collected included age, stage, histopathologic subtype, tumor size, evidence of lymph-vascular space invasion, estimated blood loss, number of perioperative blood transfusions, number and disease status of lymph nodes removed, disease status of surgical specimen, length of hospital stay, intraoperative and postoperative complications, follow-up time, and fertility outcomes.ResultsFifteen patients underwent an abdominal radical trachelectomy during the study period. The median patient age was 30 years (range, 25–38). Three patients had stage IA2 and 12 had stage IB1 cervical cancer. Eleven patients had squamous cell carcinoma and 4 had adenocarcinoma. Thirteen patients were diagnosed by cervical conization and 2 by colposcopically directed biopsy. All patients had tumors smaller than 2 cm. The median estimated blood loss was 400 ml (range, 200–1000). The median surgical time was 265 min (range, 210–330). The median number of units of packed red blood cells transfused per patient was 2. The median number of lymph nodes removed was 26 (range, 11–48). The median length of hospitalization was 3 days (range, 2–7). The median follow-up time was 32 months (range, 5–32). There was 1 intraoperative complication and 6 postoperative complications in 4 patients. No patient has had a recurrence. Three patients were able to conceive spontaneously; 1 delivered at 31 weeks' gestation, and 2 delivered at term.ConclusionAbdominal radical trachelectomy is feasible and can be performed safely in a developing country in well-selected patients with early cervical cancer who wish to preserve their fertility. 相似文献
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Chittrakarn S Sawangjaroen K Prasettho S Janchawee B Keawpradub N 《Journal of ethnopharmacology》2008,116(1):173-178
Kratom (Mitragyna speciosa Korth.) is an indigenous plant of Thailand used traditionally in folk medicine although it is claimed to cause addiction. It is used to treat diarrhea, however, there is no scientific evidence to support the use. The aim of this study is to investigate the effect of methanolic extract of kratom leaves on the rat gastrointestinal tract. Kratom extract at 50, 100, 200 and 400 mg/kg (p.o.) caused a dose dependent protection against castor oil-induced diarrhea in rats and also inhibited intestinal transit. The antidiarrheal effect was not antagonized by naloxzone. The inhibition of intestinal transit by kratom extract was significantly different from the control when treated with a single dose for 1 day. For longer-term treatments of 15 and 30 days, kratom extract did not decrease the intestinal transit time indicating that adaptation had occurred. Kratom extract at a dose level of 200 and 400 mg/kg for 30 days and morphine at 3 mg/kg (i.p.) caused a decrease in the increment of body weight that was significantly different from the control and kratom extract at lower doses (50 and 100 mg/kg). However it had no effect on the level of plasma cholecystokinin. The results suggested that methanolic kratom extract exhibited its antidiarrheal effect on rat gastrointestinal tract. The effects may occur via pathways in addition to the action on opioid receptors. High does of kratom extract decreased the increment of body weight similar to the effect of morphine. 相似文献