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A novel case of an infantile fibrosarcoma-like tumor with KIAA1549 - BRAF translocation and an oncogenic NF2 p.Q459* SNV with potential clinical significance 一例具有KIAA1549-BRAF易位和致癌NF2 p.Q459*SNV的婴儿纤维肉瘤样肿瘤的新病例,具有潜在的临床意义
Pub Date : 2021-08-27 DOI: 10.29328/JOURNAL.APCR.1001023
A. Nagy, C. Sergi, J. D. Nanassy, Lesleigh S Abbot, A. Arnoldo, C. Hawkins, B. Ngan
We report a case of a right gluteal mass from the sacroiliac joint to the knee of an infant girl. Biopsy showed histopathological features similar to infantile fi brosarcoma (IFS). However, unlike most IFS, no ETV6-NTRK3 fusion gene abnormality was detected. Molecular analysis with TruSight RNA Pan-Cancer Panel detected the presence of KIAA1549-BRAF translocation and an oncogenic NF2p.Q459* SNV with potential clinical signifi cance. A review revealed that the combination of this patient’s tumor site with the presence of a KIAA1549-BRAF translocation abnormality and an accompanying single nucleotide variant has not been previously described. The detection of this translocation abnormality raises the possibility that the spindle cell tumors in infants with an absence of the ETV6-NTRK3 fusion gene abnormality might have a distinct pathogenetic mechanism diff erent from the previously known IFS and congenital mesoblastic nephroma. Furthermore, the discovery of BRAF translocation and its aberrant signaling of the mitogen-activated protein kinase (MAPK) pathway in this tumor contributes to the promise of clinical benefi t of using the MEKi trametinib for the treatment of progressive disease that is refractory to conventional chemotherapy.
我们报告了一例从骶髂关节到膝盖的右臀大肌肿块。活检显示组织病理学特征与婴儿纤维肉瘤(IFS)相似。然而,与大多数IFS不同,没有检测到ETV6-NTRK3融合基因异常。TruSight RNA Pan-Cancer Panel的分子分析检测到KIAA1549-BRAF易位和致癌NF2p.Q459*SNV的存在,具有潜在的临床意义。一项综述显示,该患者的肿瘤部位与存在KIAA1549-BRAF易位异常和伴随的单核苷酸变体的组合以前没有描述过。这种易位异常的检测增加了一种可能性,即缺乏ETV6-NTRK3融合基因异常的婴儿的梭形细胞肿瘤可能具有不同于先前已知的IFS和先天性中幼细胞性肾瘤的独特发病机制。此外,在该肿瘤中发现BRAF易位及其丝裂原活化蛋白激酶(MAPK)途径的异常信号传导,有助于使用MEKi-trametinib治疗传统化疗难以治疗的进行性疾病的临床益处。
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引用次数: 0
Current status, complications and prospects of fecal microbiota transplantation therapy 粪便微生物群移植治疗的现状、并发症及前景
Pub Date : 2021-04-15 DOI: 10.29328/JOURNAL.APCR.1001021
Ohara Tadashi
Currently, the emergence of highly virulent mutants in Europe and the United States has caused refractory recurrent Clostridium diffi cile infection (RCDI) to be a problem in clinical practice. In 2013, the Netherland group demonstrated breakthrough therapeutic effi cacy in fecal microbial transplant (FMT) treatment clinical trials for RCDI, and FMT treatment is rapidly gaining attention. In addition to RCDI, FMT treatment has been attempted in various gastrointestinal diseases such as infl ammatory bowel disease, irritable bowel syndrome and chronic constipation, as well as extragastrointestinal diseases. In this review, I would like to describe the current status, complications and prospects of FMT treatment. Review Article
目前,在欧洲和美国出现的高毒力突变体已经导致难治性复发性艰难梭菌感染(RCDI)成为临床实践中的一个问题。2013年,荷兰小组在粪便微生物移植(FMT)治疗RCDI的临床试验中展示了突破性的治疗效果,FMT治疗正在迅速获得关注。除RCDI外,FMT治疗已被尝试用于各种胃肠道疾病,如炎症性肠病、肠易激综合征和慢性便秘,以及胃肠道外疾病。本文就FMT治疗的现状、并发症及前景作一综述。评论文章
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引用次数: 0
Emergency care sick palliative and problems oncology in emergency department during the COVID-19 pandemic COVID-19大流行期间急诊科的急诊护理、姑息治疗和肿瘤问题
Pub Date : 2020-09-30 DOI: 10.29328/JOURNAL.APCR.1001019
B. Lenjani, N. Baftiu, P. Rashiti, Gani Shabani, B. Krasniqi, Arber Demiri, Besarta Pelaj, Fllanza Spahiu, A. Demi, Dardan Lenjani
Emergency medical care in palliative patients during the COVID-19 pandemic, it is important to provide a consistent treatment for stable patients that should be consistent with the goals and benefi ts, the perspective of these patients, but avoiding palliative patients with a poor prognosis that is unlikely to survive. Cancer is the second leading cause of death in the world around 8.8 million deaths a year. Worldwide, about 7-10 million patients are diagnosed with cancer each year, recently there has been a signifi cant increase in the number of cases diagnosed with cancer. About 70% of cancer deaths are in lowand middle-income countries. The goals of emergency medical care based on the criteria of BLS and ACLS, that is should be done “Do not do resuscitation, do not intubate but continue medical treatment excluding endotracheal intubation without prospects for the patient, but off ering BLS only treatment concentrated symptomatic. ED is often the only place that can provide the necessary medical interventions (e.g., intravenous fl uids or pain management medications. Medications as well as immediate access to advanced diagnostic tests when needed such as CT, RM and other diagnostic and treatment procedures. Research Article
在新冠肺炎大流行期间,对姑息性患者的紧急医疗护理,重要的是为稳定的患者提供一致的治疗,该治疗应符合这些患者的目标和益处,但避免出现预后不良、不太可能存活的姑息性患者。癌症是全球第二大死亡原因,每年约有880万人死亡。在全球范围内,每年约有7-10亿患者被诊断为癌症,最近被诊断为癌症的病例数量显著增加。大约70%的癌症死亡发生在中低收入国家。基于BLS和ACLS标准的急诊医疗目标,应该这样做“不要复苏,不要插管,但继续治疗,不包括气管插管,对患者没有前景,但只进行BLS治疗,集中症状。ED通常是唯一可以提供必要医疗干预的地方(例如,静脉输液或疼痛管理药物。药物以及在需要时立即进行高级诊断测试,如CT、RM和其他诊断和治疗程序。研究文章
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引用次数: 0
Molecular analysis of immunoglobulins related to salmonella typhi in pediatric patients 儿童伤寒沙门菌相关免疫球蛋白的分子分析
Pub Date : 2020-04-24 DOI: 10.29328/journal.apcr.1001017
Farah Qudsia, Muhammad Rehan, S. Riaz
Typhoid fever is a systemic infection caused by Salmonella enterica serotype typhi. It is of major concern in tropical regions of the world. Highest episodes of typhoid fever occur in Asia i.e.93%. Early diagnosis of the disease is mandatory to lower the mortality rate associated with it as well as to prevent the emergence of antimicrobial drug resistance by Salmonella typhi. Research work was conducted in Immunology Department of the Children’s Hospital, Lahore for the period of one year including a total of 60 patients suspected of having typhoid fever. Serum samples of these patients were tested for Typhidot IgG and IgM antibodies as well as for the antibodies against TO and TH antigens using Widal test. Of the total 60 patients, 10 (16.7%) were positive for both Typhidot IgG and IgM, 16 (26.7%) were positive for Typhidot IgM, 3 (5%) were Positive for Typhidot IgG and 31 (51.66%) were negative for both Typhidot IgG and IgM. Reading the results of Widal test, 8 (13.33%) were positive for Widal TO and TH antigens, 3 (5%) were positive for Widal TO antigen, 19 (31.7%) were positive for Widal TH antigen and 30 (50%) were negative for Widal TO and TH antigens. IgM is positive at the early stage of acute typhoid fever, IgM along with IgG positive means the middle stage of acute illness. The detection of only IgG cannot discriminate between acute and convalescent phases as it can stay in the serum for at least 2 years or more. The Typhidot test is much helpful for the rapid diagnosis of typhoid fever as compared to Widal test which is still being used in some set ups in poor countries, although has become mostly obsolete. By testing the rise of IgM and IgG antibodies against Salmonella typhi, we can detect the infection at early and late stages, respectively. Research Article
伤寒是由血清型伤寒沙门氏菌引起的系统性感染。它是世界热带地区的主要问题。伤寒发病率最高的地区是亚洲,即93%。必须对该疾病进行早期诊断,以降低相关死亡率,并防止伤寒沙门氏菌对抗菌药物产生耐药性。拉合尔儿童医院免疫科进行了为期一年的研究,共有60名疑似伤寒患者。使用Widal试验对这些患者的血清样本进行伤寒IgG和IgM抗体以及针对TO和TH抗原的抗体测试。在总共60名患者中,10名(16.7%)伤寒IgG和IgM均呈阳性,16名(26.7%)伤寒IgM呈阳性,3名(5%)伤寒IgG呈阳性,31名(51.66%)伤寒IgG和IgM呈阴性。Widal试验结果显示,Widal TO和TH抗原阳性8例(13.33%),Widal TO抗原阳性3例(5%),Widal-TH抗原阳性19例(31.7%),Widal-TO和TH抗原阴性30例(50%)。IgM在急性伤寒的早期呈阳性,IgM与IgG一起呈阳性表示急性疾病的中期。仅检测IgG不能区分急性期和恢复期,因为它可以在血清中停留至少2年或更长时间。与Widal试验相比,伤寒试验对伤寒的快速诊断非常有帮助。Widal试验仍在贫穷国家的一些机构中使用,尽管已基本过时。通过检测针对伤寒沙门氏菌的IgM和IgG抗体的升高,我们可以分别在早期和晚期检测感染。研究文章
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引用次数: 1
Comparative carcinogenesis. 比较致癌作用。
Pub Date : 2020-02-02 DOI: 10.32388/55irnb
S. Rogers
The study of the similarities and differences between different living organisms of the process by which normal cells are transformed into cancer cells.
研究正常细胞转化为癌症细胞过程中不同生物体之间的相似性和差异性。
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引用次数: 1
Uterine precursor lesions in patients with incidental nodal lymphangioleiomyomatosis: A report of 4 cases 偶发淋巴结性淋巴管平滑肌瘤病并发子宫前体病变4例报告
Pub Date : 2020-01-14 DOI: 10.29328/journal.apcr.1001016
C. Lombard
Uterine sections from 6 patients with incidental nodal lymphangioleiomyomatosis (LAM) were examined for LAM lesions by screening these sections with cathepsin K immunohistochemistry (IHC) stains. The hysterectomy specimens were all concurrent with the lymph node dissections in which the nodal LAM was discovered. In 4 of 6 patients microscopic lesions of pre-LAM were identifi ed and confi rmed by IHC staining for HMB-45 and beta-catenin. All lesions were grossly inapparent and also inapparent by routine hematoxylin and eosin stains. Three variants of pre-LAM lesions were identifi ed. None of the pre-LAM lesions had an associated lymphatic proliferation. It is proposed that these pre-LAM lesions gave rise to the incidental nodal LAM lesions. Furthermore, it is suggested that the absence of an associated lymphatic proliferation associated with these lesions may be a factor in the attenuated potential for spread and the only rare association of these nodal lesions with pulmonary LAM. Research Article
用组织蛋白酶K免疫组织化学(IHC)染色对6例偶发性淋巴管平滑肌瘤病(LAM)患者的子宫切片进行检查,以确定LAM病变。子宫切除术标本均与发现淋巴结LAM的淋巴结解剖同时进行。在6例患者中,有4例通过HMB-45和β-连环蛋白的IHC染色鉴定并证实了LAM前期的微小病变。所有病变均严重不明显,常规苏木精和伊红染色也不明显。发现了LAM前病变的三种变体。没有一种LAM前损伤具有相关的淋巴增生。有人提出,这些LAM前病变引起了偶发的淋巴结LAM病变。此外,有人认为,与这些病变相关的淋巴管增殖的缺失可能是扩散潜力减弱的一个因素,也是这些淋巴结病变与肺LAM唯一罕见的关联。研究文章
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引用次数: 1
Pregnancy and childbirth in women aged 40 and over at befelatanana maternity, Madagascar 马达加斯加befelatanana产妇中心40岁及以上妇女的怀孕和分娩
Pub Date : 2019-12-24 DOI: 10.29328/journal.apcr.1001015
Rakotomalala Nivoarimelina Zoly, Rakotozanany Besaina, Razafindraibe Andriatompoina Felanarivo, Ramarokoto Malalafinaritra Patrick Marco, Rafamatanantsoa Jean Florent, Kapche Wato Edith, Randriambololona Domoina Malala Aurelia
Results: The prevalence of childbirth among 40 years old and over was 0.61%. They were multiparous and large multiparous in 88% of the cases. The analysis showed that parturients aged 40 years and older were at signifi cant risk for caesarean section, with three times the risk of emergency caesarean section. The frequency of this emergency caesarean section increased with parity (RR = 3.04 [2.15-4.30], p = 10-10). Among their neonates, 23.42% were hypotrophic, 22.86% premature, 12% asphyxiated at birth, 13.14% admitted to neonatal resuscitation and 5.71% died in utero, but without signifi cant difference with the group unexposed. Perinatal death was 7.43% in women aged 40 and over vs 4% in 20 to 35 year olds (RR = 1.85 [0,89-3,86]; p = 0.052).
结果:40岁及以上产妇分娩率为0.61%。88%的病例为多胎和大胎。分析显示,40岁及以上产妇剖宫产风险显著,为急诊剖宫产风险的3倍。急诊剖宫产率随胎次增加而增加(RR = 3.04 [2.15-4.30], p = 10-10)。新生儿中营养不良占23.42%,早产占22.86%,出生时窒息占12%,新生儿复苏占13.14%,宫内死亡占5.71%,与未暴露组差异无统计学意义。40岁及以上妇女围产期死亡率为7.43%,20 ~ 35岁妇女为4% (RR = 1.85 [0,89-3,86];P = 0.052)。
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引用次数: 0
Effect evaluation of vitamin D level amongst patients with chronic hepatitis B 慢性乙型肝炎患者维生素D水平的疗效评价
Pub Date : 2019-12-03 DOI: 10.29328/journal.apcr.1001014
Osmani* Freshteh
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引用次数: 2
Receptor Pharmacology and Other Relevant Factors in Lower Urinary Tract Pathology under a Functional and Toxicological Approach: Instrument to Better Manage Antimicrobials Therapy 功能和毒理学方法下尿路病理学中的受体药理学和其他相关因素:更好地管理抗菌药物治疗的工具
Pub Date : 2018-12-14 DOI: 10.29328/JOURNAL.APCR.1001010
M. Luisetto
This work is produced under a pharmaceuticalpharmacological, patho-physiological and toxicological point of view and it focused on male individuals and not under a surgery light. Various receptors control the LUT like cholinergic, alpha adrenergic, nociceptors, PDE5, androgen and other are involved in physio-pathology of this condition (Figures 1-14). Cholinergic, adrenergic innervation in bladder and bladder neck, adrenergic in prostate, androgen receptor, PDE5 rec, nociceptors but also other system
这项工作是在药学、病理生理学和毒理学的角度下进行的,它关注的是男性个体,而不是手术。各种受体控制LUT,如胆碱能、α-肾上腺素能、伤害感受器、PDE5、雄激素和其他参与这种情况的生理病理学(图1-14)。胆碱能、膀胱和膀胱颈的肾上腺素能神经支配、前列腺的肾上腺素能、雄激素受体、PDE5-rec、伤害感受器以及其他系统
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引用次数: 1
Amyotropyc Lateral Sclerosis and Endogenous -Esogenous Toxicological Movens: New model to verify other Pharmacological Strategies 肌萎缩性侧索硬化和内源性-内源性毒理学运动:验证其他药理策略的新模型
Pub Date : 2018-10-05 DOI: 10.29328/journal.apcr.1001009
L. Mauro
ALS is a chronic progressive neurodegenerative pathology involving motoneuron system (I and II, central and periferic or upper and lower motoneuron) with heavy symptomatology with progressive paralisys of voluntary muscle and since exitus. Different form: primary, familiar 5-10%, et other involving young, adults,ereditary, sporadic, acquired. In example see West Pacific foci, mutation SOD1 geography diffusion, sports related cases.
{"title":"Amyotropyc Lateral Sclerosis and Endogenous -Esogenous Toxicological Movens: New model to verify other Pharmacological Strategies","authors":"L. Mauro","doi":"10.29328/journal.apcr.1001009","DOIUrl":"https://doi.org/10.29328/journal.apcr.1001009","url":null,"abstract":"ALS is a chronic progressive neurodegenerative pathology involving motoneuron system (I and II, central and periferic or upper and lower motoneuron) with heavy symptomatology with progressive paralisys of voluntary muscle and since exitus. Different form: primary, familiar 5-10%, et other involving young, adults,ereditary, sporadic, acquired. In example see West Pacific foci, mutation SOD1 geography diffusion, sports related cases.","PeriodicalId":8289,"journal":{"name":"Archives of pathology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2018-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69930862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
期刊
Archives of pathology
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