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<i>BRCA2</i> Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Shimelis, Hermela,Mesman, Romy L.S.,Von Nicolai, Catharina,Ehlen, Asa,Guidugli, Lucia,Martin, Charlotte,Callé,ja, Fabienne M.G.R.,Meeks, Huong,Hallberg, Emily,Hinton, Jamie,Lilyquist, Jenna,Hu, American Association for Cancer Research 2017 Cancer Research Vol.77 No.11
<P>These results show how BRCA2 missense variants that partially influence protein function can confer clinically relevant increased risks of breast cancer, with potential implications for risk management of women who harbor specific variants.</P><P>Breast cancer risks conferred by many germline missense variants in the <I>BRCA1</I> and <I>BRCA2</I> genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missense substitution variants and breast cancer risk were investigated through a breast cancer case–control study using genotyping data from 38 studies of predominantly European ancestry (41,890 cases and 41,607 controls) and nine studies of Asian ancestry (6,269 cases and 6,624 controls). The BRCA2 c.9104A>C, p.Tyr3035Ser (OR = 2.52; <I>P</I> = 0.04), and BRCA1 c.5096G>A, p.Arg1699Gln (OR = 4.29; <I>P</I> = 0.009) variant were associated with moderately increased risks of breast cancer among Europeans, whereas BRCA2 c.7522G>A, p.Gly2508Ser (OR = 2.68; <I>P</I> = 0.004), and c.8187G>T, p.Lys2729Asn (OR = 1.4; <I>P</I> = 0.004) were associated with moderate and low risks of breast cancer among Asians. Functional characterization of the BRCA2 variants using four quantitative assays showed reduced BRCA2 activity for p.Tyr3035Ser compared with wild-type. Overall, our results show how BRCA2 missense variants that influence protein function can confer clinically relevant, moderately increased risks of breast cancer, with potential implications for risk management guidelines in women with these specific variants. <I>Cancer Res; 77(11); 2789–99. ©2017 AACR</I>.</P>
A naturalistic study of herbal medicine for self-reported depression and/or anxiety a protocol
David Casteleijn,Amie Steel,Diana Bowman,Romy Lauche,Jon Wardle 한국한의학연구원 2019 Integrative Medicine Research Vol.8 No.2
Background Mental health conditions including anxiety and depression account for around 8% of the global disease burden. Anxiety and depression often coexist and impose a high individual and social burden. Patients with mental and behavioural conditions may be at increased risk of co-morbidities and are often high health-care utilisers. Herbal medicine is estimated to be used by up to 80% of the worlds population, and by 22% of Australian women seeking care for depression. The holistic and tailored treatment approach offered by practitioners of herbal medicine is difficult to capture in randomised controlled trials and as such there is a paucity of research demonstrating the outcomes of real-life practice. This project aims to address this gap with a whole practice, observational model. Methods The study will employ a naturalistic observational design. Two-hundred patient participants will be recruited to be treated by 15 clinician participants from different naturopathic clinics. The observed changes in anxiety and depression symptoms of patients will be documented across three consultations using validated patient-reported outcome measures (SF-36, DASS-21, GHQ-28 and POMS-2). Discussion Clinical studies investigating the efficacy of individualised herbal medicine treatment as prescribed by a naturopath are rare. Our study attempts to fill this gap with a longitudinal observation of individualised care as practiced by naturopaths in Australia; to offer valuable insights into the effectiveness of individualised herbal medicine practice and provide contextualisation of data currently focused on individual herbal medicines in specific conditions. Trial Registration Australian and New Zealand Clinical Trials Registry: ACTRN12616000010493
Susan Arentz,Jennifer Hunter,Baljit Khamba,Michelle Mravunac,Zemirah Lee,Kristen Alexander,Romy Lauche,Joshua Goldenberg,Stephen P Myers 한국한의학연구원 2021 Integrative Medicine Research Vol.10 No.-
Background This rapid review systematically evaluated the effects of honeybee products compared to controls for the prevention, duration, severity, and recovery of acute viral respiratory tract infections (RTIs), including SARS-CoV-2, in adults and children. Methods Cochrane rapid review methods were applied. Four English databases plus preprint servers and trial registries were searched for randomized controlled trials (RCTs). The evidence was appraised and synthesized using RoB 2.0 and GRADE. Results 27 results were derived from 9 RCTs that included 674 adults and 781 children. In hospitalized adults with SARS-CoV-2, propolis plus usual-care compared to usual-care alone reduced the risk of shock, respiratory failure and kidney injury and duration of hospital admission. Honey was less effective than Guaifenesin for reducing cough severity at 60-minutes in adults with non-specific acute viral RTIs. Compared to coffee, honey plus coffee, and honey alone reduced the severity of post-infectious cough in adults. Honey reduced the duration of cough in children compared to placebo and salbutamol; and the global impact of nocturnal cough after one night compared to usual-care alone and pharmaceutical cough medicines. Conclusion More studies are needed to robustly assess honeybee's role in SARS-CoV-2 and non-specific viral respiratory infections. Protocol registration PROSPERO: CRD42020193847.
Functionalization of Ti-40Nb implant material with strontium by reactive sputtering
Markus Göttlicher,Marcus Rohnke,Yannik Moryson,Jürgen Thomas,Joachim Sann,Anja Lode,Matthias Schumacher,Romy Schmidt,Stefan Pilz,Annett Gebert,Thomas Gemming,Jürgen Janek 한국생체재료학회 2017 생체재료학회지 Vol.21 No.4
Background: Surface functionalization of orthopedic implants with pharmaceutically active agents is a modern approach to enhance osseointegration in systemically altered bone. A local release of strontium, a verified bone building therapeutic agent, at the fracture site would diminish side effects, which could occur otherwise by oral administration. Strontium surface functionalization of specially designed titanium-niobium (Ti-40Nb) implant alloy would provide an advanced implant system that is mechanically adapted to altered bone with the ability to stimulate bone formation. Methods: Strontium-containing coatings were prepared by reactive sputtering of strontium chloride (SrCl2) in a self-constructed capacitively coupled radio frequency (RF) plasma reactor. Film morphology, structure and composition were investigated by scanning electron microscopy (SEM), time of flight secondary ion mass spectrometry (ToF-SIMS) and X-ray photoelectron spectroscopy (XPS). High-resolution transmission electron microscopy (HR-TEM) was used for the investigation of thickness and growth direction of the product layer. TEM lamellae were prepared using the focused ion beam (FIB) technique. Bioactivity of the surface coatings was tested by cultivation of primary human osteoblasts and subsequent analysis of cell morphology, viability, proliferation and differentiation. The results are correlated with the amount of strontium that is released from the coating in biomedical buffer solution, quantified by inductively coupled plasma mass spectrometry (ICP-MS). Results: Dense coatings, consisting of SrOxCly, of more than 100 nm thickness and columnar structure, were prepared. TEM images of cross sections clearly show an incoherent but well-structured interface between coating and substrate without any cracks. Sr2+ is released from the SrOxCly coating into physiological solution as proven by ICP-MS analysis. Cell culture studies showed excellent biocompatibility of the functionalized alloy. Conclusions: Ti-40Nb alloy, a potential orthopedic implant material for osteoporosis patients, could be successfully plasma coated with a dense SrOxCly film. The material performed well in in vitro tests. Nevertheless, the Sr2+ release must be optimized in future work to meet the requirements of an effective drug delivery system.
Christopher Pivetti,홍인철,Chang H. Yoo,이선,Kenny Kim,Gregory Emmanuel,Jason KIm,Romy Chung,Slawomir Niewiadomski,Paul Wolf,R. F. Gittes 연세대학교의과대학 2004 Yonsei medical journal Vol.45 No.6
Comparison of pancreaticoduodenal transplants (PDT) and duct-ligated pancreas transplant (DLPT) were performed using syngeneic and allogeneic studies in rats. Both DLPT and PDT allogeneic grafts showed mild rejection. DLPT groups showed disorganized pathology and acini replaced by fat. Eventually, massive fibrosis was seen in the Islets of Langerhans, as well as rejection cellular infiltrates. In both PDT groups, normal histology was observed in the same period. Thus the effect of duct occlusion is highly detrimental for the grafts.
Analysis of the Cases with Carcinoma Gallbladder (CA GB) in a Tertiary Level Hospital of Nepal
( Romi Dahal ),( Bika Lghimire ),( Prasan Kansakar ),( Ramesh Singh Bhandari ),( Paleswan Joshi Lakhey ) 대한간학회 2020 춘·추계 학술대회 (KASL) Vol.2020 No.1
Aims: Gallbladder cancer (GC) is a relatively rare disease in some parts of world but is common in countries like Chile, Japan India and Nepal. Nepal stands as one of the five countries with the highest mortality. Methods: A retrospective analysis of the consecutive operated and non-operated admitted cases of GC in TUTH from 2018 to 2019 was done. Patient demographics, disease characteristics, diagnostic modalities and various curative and palliative treatment variables were analyzed. Results: Of the 59 patients, there were 33 females (56%) who outnumbered the 26 males(44%) with a male to female ratio of 0.7:1. The median age at diagnosis was 56 years with younger group (<60 years) comprising 62.7% of the disease. Among all, the most common presenting symptom was abdominal pain followed by jaundice. Onset of first symptoms was within mean duration of 40 days (SD 37.45 days). USG and CT availability (100%) lead to preoperative diagnosis in majority. Curative resection (extended cholecystectomy) was done in 16 (27%). The most common anatomic location of mass was fundic followed by neck. Pathological examinations revealed most cases of adenocarcinoma. Of the advanced metastatic Ca GB in 30% of cases, the most common site of metastasis was liver. Mean survival after diagnosis in advanced cases was 4.5 months. Conclusions: CA GB is more common in Nepal, more among females and younger patients often presenting with pain abdomen and jaundice. Most are advanced at the time of diagnosis Radical surgery can be offered to few patients where the outcome seems reasonably good.
A Case of Complete Visual Recovery after Methanol Intoxication
Romi Yoo,Hyun Jin Shin,Ki Cheul Shin 대한검안학회 2016 Annals of optometry and contact lens Vol.15 No.4
Purpose: We report a case of complete visual recovery in methanol poisoning treated with hemodialysis, intravenous steroid, and folic acid. Case summary: A 19-year-old woman visited the emergency room complaining of decreased vision 3 days after accidentally ingesting methanol. Her initial best corrected visual acuity (BCVA) were hand motion in right eye and 20/400 in left eye. No pupillary light reflex and apparent response of the visual evoked potential (VEP) test were observed. Treatment consisted of hemodialysis, and the intravenous administrations of methylprednisolone and folic acid. Conclusions: Fifteen days after treatment, BCVA was 20/400 (right eye) and 20/50 (left eye), and slight P100 delay with normalized VEP amplitude was observed on both eyes. Two months after treatment, BCVA of both eyes was 20/20. VEP showed normal amplitude with sustained mild P100 delay. One year after treatment, BCVA of both eyes was maintained and there was no evidence of optic atrophy.