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Molecular genetic testing in colon cancer: clinical aspects 结肠癌的分子基因检测:临床方面
Pub Date : 2022-02-23 DOI: 10.18786/072-0505-2022-50-002
A. Martianov, E. Kuligina, A. Romanko, E. Imyanitov
Molecular genetic diagnostics is an essential element to plan for management of colorectal cancer (CRC) patients. The choice of systemic treatment for CRC is impossible without molecular testing of the tumor. For instance, the assessment of the KRAS and NRAS genes is mandatory for consideration of anti-EGFR agents. Tumors with BRAF V600E mutation are characterized by aggressive behavior, the necessity of intensive cytostatic regimens, as well as by sensitivity to combination therapy with BRAF and EGFR inhibitors. Inactivation of the DNA mismatch repair, the MUTYH gene or DNA polymerase epsilon (POLE) leads to an excessive tumor mutational burden; these CRC types are highly immunogenic and therefore respond to immune checkpoint inhibitors. Some colorectal carcinomas are characterized by overexpression of the HER2 oncogene, which make them sensitive to corresponding target therapies. There are CRCs with clinical signs of hereditary predisposition, which require germline genetic testing. Nowadays the molecular diagnosis of CRC is being seriously modified due to worldwide implementation of the next-generation sequencing (NGS) and hypersensitive variants of polymerase chain reaction, for example, droplet digital polymerase chain reaction (ddPCR). Non-invasive liquid biopsy is an example of another highly useful innovation that has growing importance for CRC screening, control of surgical intervention efficacy and monitoring of the disease course.
分子遗传学诊断是大肠癌(CRC)患者治疗计划的重要组成部分。如果没有肿瘤的分子检测,就不可能选择对结直肠癌进行全身治疗。例如,在考虑抗egfr药物时,必须评估KRAS和NRAS基因。BRAF V600E突变的肿瘤具有侵袭性行为,需要强化细胞抑制方案,以及对BRAF和EGFR抑制剂联合治疗的敏感性。DNA错配修复、MUTYH基因或DNA聚合酶epsilon (POLE)失活导致过度的肿瘤突变负担;这些结直肠癌类型是高度免疫原性的,因此对免疫检查点抑制剂有反应。一些结直肠癌的特点是HER2癌基因过表达,这使得它们对相应的靶向治疗敏感。有CRCs具有遗传易感性的临床症状,需要进行种系基因检测。随着新一代测序技术(NGS)的广泛应用,以及液滴数字聚合酶链反应(ddPCR)等聚合酶链反应的超敏变异,CRC的分子诊断正在发生重大变化。无创液体活检是另一个非常有用的创新,在CRC筛查、手术干预效果控制和病程监测方面越来越重要。
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引用次数: 1
Clinical features of the microRNA genes methylation in borderline ovarian tumors and depending on the histological structure in ovarian malignancies 交界性卵巢肿瘤中microRNA基因甲基化的临床特征及与卵巢恶性肿瘤组织结构的关系
Pub Date : 2022-02-23 DOI: 10.18786/2072-0505-2022-50-001
S. Lukina, A. Burdennyy, E. Filippova, I. Pronina, T. Kazubskaya, D. N. Kushlinsky, D. O. Utkin, E. Braga, V. Loginov, N. Kushlinskii
Background: Borderline ovarian tumors (BOT) belong to the intermediate type between benign and malignant ovarian neoplasms. Serous borderline tumors share common molecular and genetic characteristics with serous carcinomas. An increase in the methylation level of microRNA (miRNA) genes group has been previously shown during the development and progression of ovarian cancer. However, the study results are contradictory, and their number is not sufficient for a consensus. Current study is the first to search for aberrant methylated genes of the BOT-specific microRNA and for some histological subtypes of ovarian cancer. Materials and methods: The study was based on a set of 99 paired (tumor/healthy) ovarian tumor samples. Methylation analysis was carried out with quantitative methyl-specific polymerase chain reaction (PCR). Screening for BOT biomarkers was performed in 21 genes of miRNA. Results: We have found that some miRNA genes (MIR124-1, MIR125B-1, MIR129-2, MIR132, MIR148A, MIR193A, MIR203A, MIR107, MIR1258, MIR339) were characterized by a high methylation level in the patients with BOT, compared to that in the tissues of healthy women. At the same time, the methylation level in the patients with malignant ovarian tumors (MOT) either differed slightly or was even lower. For the MIR129-2, MIR132, MIR148A, MIR203, MIR107 and MIR1258 genes, a higher level of methylation was detected in the BOT patients, compared to the MOT patients. The methylation level of the MIR148A gene in the BOT patients was 4-fold higher than that in the MOT (31.3% vs 7.9%, p = 0.047, multiple two-sided Kruskal-Wallis test). The methylation levels of the miRNA genes MIR148A and MIR191 were significantly reduced in serous cystadenocarcinoma and increased in serous and endometrioid adenocarcinomas. Conclusion: Methylation of the miRNA MIR148A and MIR191 genes is significantly associated with various histological variants of ovarian cancer. We have shown an increased methylation level of a number of miRNA genes in BOT, compared to MOT. In general, epigenetic factors play a role in the clinical differences between histological forms of ovarian cancer and borderline tumors.
背景:交界性卵巢肿瘤(Borderline ovarian tumor, BOT)是介于卵巢良恶性肿瘤之间的中间类型。浆液性交界性肿瘤与浆液性癌具有共同的分子和遗传特征。microRNA (miRNA)基因组甲基化水平的增加在卵巢癌的发生和发展过程中已经被证实。然而,研究结果是相互矛盾的,它们的数量不足以达成共识。目前的研究是首次寻找bot特异性microRNA的异常甲基化基因和卵巢癌的一些组织学亚型。材料和方法:本研究基于一组99对(肿瘤/健康)卵巢肿瘤样本。采用定量甲基特异性聚合酶链反应(PCR)进行甲基化分析。筛选21个miRNA基因的BOT生物标志物。结果:我们发现,与健康女性相比,BOT患者的一些miRNA基因(MIR124-1、MIR125B-1、MIR129-2、MIR132、MIR148A、MIR193A、MIR203A、MIR107、MIR1258、MIR339)的甲基化水平较高。同时,恶性卵巢肿瘤(MOT)患者的甲基化水平或略有差异,或甚至更低。对于MIR129-2、MIR132、MIR148A、MIR203、MIR107和MIR1258基因,与MOT患者相比,BOT患者中检测到更高水平的甲基化。BOT患者MIR148A基因的甲基化水平是MOT患者的4倍(31.3% vs 7.9%, p = 0.047,多重双侧Kruskal-Wallis检验)。miRNA基因MIR148A和MIR191的甲基化水平在浆液性囊腺癌中显著降低,在浆液性和子宫内膜样腺癌中显著升高。结论:miRNA MIR148A和MIR191基因的甲基化与卵巢癌的各种组织学变异显著相关。我们已经表明,与MOT相比,BOT中许多miRNA基因的甲基化水平增加。一般来说,表观遗传因素在卵巢癌和交界性肿瘤组织学形式的临床差异中起作用。
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引用次数: 0
Potential impact of viral skin diseases and other viral infections on the incidence and severity of COVID-19 in renal transplant patients 病毒性皮肤病和其他病毒感染对肾移植患者COVID-19发病率和严重程度的潜在影响
Pub Date : 2022-01-21 DOI: 10.18786/2072-0505-2021-49-066
Anastasia D. Perlina, I. V. Alexandrov, E. Prokopenko, A. Terentyev, P. Kulikov
Background: COVID-19 in solid organ transplant recipients is usually characterized by more severe disease course and is often associated with life-threatening complications. Identification of additional factors that may affect the risk and severity of the new coronavirus infection could have a significant impact on choosing a management strategy for renal graft recipients. Aim: To evaluate the possibility of cross-immunity between skin manifestations of viral etiology and COVID-19. Materials and methods: From May 2020 to February 2021 we examined 180 renal graft recipients with a history of transplantation from 2 months to 26.5 years. All patients were categorized into two groups: groupI (n=68), those who had confirmed moderate or severe COVID-19 disease and groupII (n=112), those without any history of clinical manifestations of the new coronavirus infection (including those with potentially asymptomatic disease). During the study period which lasted for 71 months on average (range, 2 to 318 months), laboratory workupwas performed in all patients (on average, twice): dermatological examination and detection of serum antibodies to herpes simplex virus 1, 2, cytomegalovirus, human papilloma virus (HPV), Epstein-Barr virus, SARS-CoV-2. Results: In recipients with HPV-associated skin manifestations, the incidence of COVID-19 was significantly lower than in recipients who did not have them 30.4% (34/112) and 50% (34/68), respectively (p=0.011). The incidence of new coronavirus infection did not differ in the groups of patients with cutaneous manifestations caused by herpes simplex viruses type 1 and 2, and without them. Among recipients with Epstein-Barr virus seropositivity, there were significantly fewer cases of COVID-19 compared to seronegative patients 26.2% (28/107) and 54.8% (40/73), respectively (p=0.0002). Conclusion: HPV-associated dermal manifestations or serum Epstein-Barr virus-seropositivity in renal graft recipients is associated with lower incidence of moderate and severe COVID-19. Further studies are needed to confirm the possibility of cross-immunity against SARS-CoV-2 with other infections.
背景:实体器官移植受者的COVID-19通常以病程更严重为特征,并常伴有危及生命的并发症。确定可能影响新型冠状病毒感染风险和严重程度的其他因素可能对肾移植受者选择管理策略产生重大影响。目的:探讨病毒病原学皮肤表现与COVID-19交叉免疫的可能性。材料和方法:从2020年5月到2021年2月,我们检查了180例移植史从2个月到26.5年的肾移植受者。将所有患者分为两组:pi组(n=68)为确诊中、重度新冠肺炎患者,pi组(n=112)为无新型冠状病毒感染临床表现史患者(包括潜在无症状患者)。在平均71个月(2 ~ 318个月)的研究期间,对所有患者进行了实验室检查(平均2次):皮肤检查和单纯疱疹病毒1、2、巨细胞病毒、人乳头瘤病毒(HPV)、eb病毒、SARS-CoV-2的血清抗体检测。结果:在有hpv相关皮肤表现的受者中,COVID-19的发病率显著低于无hpv相关皮肤表现的受者,分别为30.4%(34/112)和50%(34/68),差异有统计学意义(p=0.011)。单纯疱疹病毒1型和2型引起皮肤表现的患者与无皮肤表现的患者之间新型冠状病毒感染的发生率无差异。Epstein-Barr病毒血清阳性患者的新冠肺炎病例数分别为26.2%(28/107)和54.8%(40/73),差异有统计学意义(p=0.0002)。结论:肾移植受者hpv相关皮肤表现或血清eb病毒阳性与中重度COVID-19发病率较低相关。需要进一步的研究来证实对SARS-CoV-2与其他感染的交叉免疫的可能性。
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引用次数: 1
Adult-onset of Langerhans cell histiocytosis: a clinical case 成人起病的朗格汉斯细胞组织细胞增多症:一例临床病例
Pub Date : 2022-01-21 DOI: 10.18786/2072-0505-2021-49-064
O. Chernysheva, O. Dorokhina, A. Khlebnikova, E. Selezneva
Langerhans cell histiocytosis is mainly diagnosed in children, and its manifestation in adult age is quite uncommon. Skin rashes may be non-specific and mimic a number of dermatoses. Therefore, the clinical diagnosis is challenging and as a rule, such patients are misinterpreted and managed for other disorders by a dermatologist for some years. We present a clinical case of Langerhans cell histiocytosis with skin involvement in a 35-year female patient, who had been treated by a dermatologist for 2 years for pyoderma, seborrheic dermatitis, and skin fold candidiasis. Taking into account the clinical signs and symptoms and age of manifestation, we initially suspected familial benign pemphigus (Hailey-Hailey disease) or follicular dyskeratosis (Darier's disease). However, the histological assessment showed Langerhans cell histiocytosis confirmed by immunohistochemistry with anti-langerin, anti-CD1a, and anti-protein S-100 antibodies. The patient was referred to a hematologist for further work-upand specific treatment. In cases of any treatment resistant disorders, which do not respond to long-term conventional treatment, it is necessary to reconsider the diagnosis by means of histological investigation. It would allow for identification of a disease, which is uncommon in dermatology practice.
朗格汉斯细胞组织细胞增多症主要诊断于儿童,其在成年期的表现相当罕见。皮疹可能是非特异性的,类似于许多皮肤病。因此,临床诊断是具有挑战性的,作为一个规则,这样的病人被误解,并管理为其他疾病由皮肤科医生数年。我们报告一个35岁女性患者的朗格汉斯细胞组织细胞增多症伴皮肤累及的临床病例,她曾因脓皮病、脂溢性皮炎和皮肤褶念珠菌病接受皮肤科医生治疗2年。考虑到临床体征和症状以及表现的年龄,我们最初怀疑家族性良性天疱疮(Hailey-Hailey病)或滤泡性角化不良(Darier病)。然而,组织学评估显示朗格汉斯细胞组织细胞增生,免疫组织化学证实抗朗格汉斯素,抗cd1a和抗蛋白S-100抗体。患者被转诊到血液科接受进一步的检查和特异性治疗。在任何治疗难治性疾病的情况下,对长期常规治疗没有反应,有必要通过组织学检查重新考虑诊断。它将允许识别疾病,这是罕见的皮肤科实践。
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引用次数: 1
A clinical case of Barraquer-Simons syndrome Barraquer-Simons综合征1例
Pub Date : 2022-01-20 DOI: 10.18786/2072-0505-2021-49-067
T. Sedova, V. Elkin, M. Kobernik, E. Borodina
Barraquer-Simons syndrome (SBS) belongs to the groupof lipodystrophy with complex etiology and pathophysiology and is characterized by progressive loss of subcutaneous fat, presumably related to autoimmune destruction of adipocytes. SBS is frequently associated with autoimmune disorders. Its first signs are found in childhood or puberty. It is characterized by gradual onset from the face with subsequent extension of the pathological process downwards without the involvement of the lower extremities. At the same time, there is a clear delimitation between the lipodystrophic and unaffected zones. The diagnosis of SBS is mainly based on clinical manifestations. Laboratory work-upis needed mostly to clarify any concomitant disorders. We describe a rare clinical case of the Barraquer-Simons syndrome in a 61-year-old woman, associated with chronic glomerulonephritis and C3-hypocomplementemia. The disease manifested at the age of 11 years with the fat loss in the face area. No familial history of SBS could be identified. Among the concomitant diseases, chronic glomerulonephritis and bilateral retinal angiopathy are of particular interest. The laboratory assessments showed proteinuria and microhematuria in the urine analysis and decreased C3 component of the complement in blood chemistry analysis. The skin pathology was represented by atrophy of the skin and soft tissues in the face, neck, upper limbs and trunk areas, with a clear delimitation in the upper third of the thighs, where normal subcutaneous fat was preserved. There was pronounced skin hypotrophy in the face area, with face disfiguration resembling a "dead man's face". To diagnose the Barraquer-Simons syndrome, in addition to the assessment of clinical manifestations, we used non-invasive diagnostic methods and the results of histological examination of a skin biopsy samples (the description of the specimen is given). Patients with SBS should be followed upwith the monitoring of their clinical and biochemical profiles and need an in-depth comprehensive examination by medical specialists to identify and treat their concomitant disorders.
Barraquer-Simons综合征(SBS)属于脂肪营养不良,具有复杂的病因和病理生理,以皮下脂肪的进行性减少为特征,可能与脂肪细胞的自身免疫破坏有关。SBS常与自身免疫性疾病相关。它的最初症状出现在童年或青春期。其特点是从面部开始逐渐发病,随后病理过程向下延伸,不累及下肢。同时,在脂肪营养不良区和未受影响区之间有明确的界限。SBS的诊断主要依据临床表现。实验室检查主要是为了澄清任何伴随的疾病。我们描述了一个罕见的临床病例Barraquer-Simons综合征在61岁的妇女,与慢性肾小球肾炎和c3 -低补体血症。该病表现为11岁时面部脂肪减少。无SBS家族史。在伴随疾病中,慢性肾小球肾炎和双侧视网膜血管病变是特别值得关注的。实验室检查显示尿分析中有蛋白尿和微量血尿,血化学分析中补体中C3成分减少。皮肤病理表现为面部、颈部、上肢和躯干区域的皮肤和软组织萎缩,大腿上三分之一处界限清晰,保留了正常的皮下脂肪。面部皮肤明显萎缩,面部变形类似于“死人的脸”。为了诊断Barraquer-Simons综合征,除了评估临床表现外,我们采用非侵入性诊断方法和皮肤活检样本的组织学检查结果(给出了标本的描述)。SBS患者应跟踪监测其临床和生化特征,并需要医学专家进行深入的全面检查,以确定和治疗其伴随疾病。
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引用次数: 0
Efficacy of narrowband phototherapy in the treatment of different forms of psoriasis with the predominant affection of palms and soles 窄带光疗治疗以手掌和脚底为主的不同类型牛皮癣的疗效
Pub Date : 2021-12-24 DOI: 10.18786/2072-0505-2021-49-068
M. Gureeva, A. Molochkov, G. E. Bagramova, Mikhail S. Sipkin, O. V. Karzanov
Background: Palmar-plantar psoriasis is characterized by a torpid course and resistance to conventional systemic treatments. Phototherapy is usually considered as an adjuvant treatment of a patient with psoriasis. The potential use of phototherapy as a basic treatment strategy in limited psoriasis, including its plantar-palmar localization, could be of interest. Aim: To study the efficacy, safety and tolerability of the narrowband phototherapy (UVB 311 nm) in the treatment of different forms of psoriasis with predominant palmar-plantar involvement. Materials and methods: We retrospectively analyzed the results of treatment of 77 in-patients admitted to the Department of Dermatology for treatment of various types of psoriasis with prevailing palmar and plantar lesions. The main group consisted of 42 patients who were administered combination therapy including topical corticosteroids, hepatic protectors, antihistaminic agents and, in addition, the narrowband phototherapy with a phototherapy device Dermalight 500-1 (Dr. Hnle Medizintechnik GmbH, Germany). The initial radiation doses were set without the determination of the minimal erythema dose, depending on the patient's skin type, in accordance with the guidelines from the manufacturer. At each consecutive session, the dose was increased by 0.060.3 J/cm. The sessions were conducted 5 times a week with a total of 1421 sessions. The mean cumulative dose was 22.8 J/cm. The control group included 35 age-, gender- and psoriasis severity-matched patients who received the same treatments, except the narrowband phototherapy. The treatment efficacy was assessed by changes in the Palmoplantar Pustulosis Area and Severity Index (PPPASI). Clinical results of treatment were evaluated at day 10 after the treatment course had been completed. Results: No serious adverse events were registered during the treatment. In the patients with psoriasis vulgaris and predominant palmoplantar lesions, receiving the narrowband phototherapy, the PPPASI reduction was higher than in the patients who received only conventional treatment (U-test, p = 0.015). A PPPASI decrease of 50% was observed in 83.3% (25/30) and 60% (15/25) of the patients, respectively. Clinical efficacy criteria were achieved in 66.6% (8/12) of the patients with palmoplantar pustular psoriasis receiving the combination treatment with phototherapy and in 40% (4/10) of the conventionally treated patients in the control group; however, the difference in the distribution of remission achievement was non-significant (U-test, p = 0.123). Conclusion: The study has demonstrated the efficacy of UVB 311 nm narrowband phototherapy in the treatment of patients with psoriasis with predominant palmoplantar lesions. The results obtained make it possible to recommend the inclusion of the narrowband phototherapy UVB 311 nm at mean cumulative dose of 22.8 J/cm into the standardized set of treatments of patients with psoriasis vulgaris with predominant palmoplantar lesio
背景:掌足底银屑病的特点是病程缓慢,对常规全身治疗有抵抗力。光疗通常被认为是牛皮癣患者的辅助治疗。光疗作为局限性银屑病的基本治疗策略,包括其跖掌定位,可能会引起人们的兴趣。目的:探讨窄带光疗(UVB - 311 nm)治疗以掌足底为主的不同类型银屑病的疗效、安全性和耐受性。材料和方法:回顾性分析皮肤科收治的77例以掌、足底病变为主的各类银屑病患者的治疗结果。主要组由42名患者组成,他们接受联合治疗,包括局部皮质类固醇、肝保护剂、抗组胺药,此外,使用Dermalight 500-1光疗设备进行窄带光疗(Dr. Hnle Medizintechnik GmbH,德国)。根据制造商的指导方针,根据患者的皮肤类型,在没有确定最小红斑剂量的情况下设置初始辐射剂量。每连续一次,剂量增加0.060.3 J/cm。每周进行5次,共1421次。平均累积剂量为22.8 J/cm。对照组包括35名年龄、性别和银屑病严重程度相匹配的患者,他们接受了除窄带光疗外的相同治疗。通过掌跖脓疱面积及严重程度指数(PPPASI)的变化来评价治疗效果。疗程结束后第10天评估治疗的临床效果。结果:治疗过程中无严重不良事件发生。在寻常型银屑病伴掌足底病变为主的患者中,窄带光疗组PPPASI降低率高于单纯常规治疗组(u检验,p = 0.015)。83.3%(25/30)和60%(15/25)的患者PPPASI下降50%。采用光疗联合治疗的掌跖脓疱型银屑病患者达到临床疗效标准的比例为66.6%(8/12),而常规治疗的对照组达到临床疗效标准的比例为40% (4/10);然而,缓解成就的分布差异无统计学意义(u检验,p = 0.123)。结论:UVB 311 nm窄带光疗治疗以掌足底病变为主的银屑病有较好的疗效。本研究结果可推荐将平均累积剂量为22.8 J/cm的UVB 311 nm窄带光疗纳入以掌足底病变为主的寻常型银屑病患者的标准化治疗方案,不仅可作为辅助技术,而且可作为主要治疗策略。窄带光疗UVB 311 nm在治疗掌跖脓疱性银屑病中的作用,以及放疗的给药方案和必要随访时间的确定有待进一步研究。
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引用次数: 0
A clinical case of familial enteropathic acrodermatitis caused by a new genetic mutation in exon 10 of the SLC39A4 gene SLC39A4基因外显子10新突变引起家族性肠病性肢端皮炎1例
Pub Date : 2021-12-24 DOI: 10.18786/2072-0505-2021-49-069
A. S. Stadnikova, O. Tamrazova, I. Zakharova, Y. Dmitrieva, A. V. Taganov, A. Yudina, G. E. Bagramova
Enteropathic acrodermatitis is a rare form of genodermatoses, a group of hereditary disorders with prevailing skin lesions. The disease manifestation in children is associated with withdrawal of breastfeeding and switch to the cow milk-based products, which makes it difficult to differentiate enteropathic acrodermatitis from allergic dermatoses. We describe a familial case of enteropathic acrodermatitis in a 4-month old girl with advanced skin lesions and diarrhea. The familial history positive for enteropathic dermatitis made it possible to immediately suspect this diagnosis in the patient and to administer a zinc sulfate-containing agent before the genetic test results have become available. The response to therapy was obtained within a few days. Genetic testing of the patient identified a new mutation in exon 10 of the SLC39A4 gene. Proper collection of the past history and physician's vigilance to zinc-deficient conditions in acral dermatitis combined with alopecia and diarrhea in infants would allow for a timely and proper diagnosis and choice of a subsequent management strategy.
肠病性肢端皮炎是一种罕见的遗传性皮肤病,是一组具有普遍皮肤病变的遗传性疾病。该疾病在儿童中的表现与停止母乳喂养和改用牛奶产品有关,这使得很难区分肠病性肢端皮炎与过敏性皮肤病。我们描述了一个家族病例肠病肢端皮炎在一个4个月大的女孩与先进的皮肤病变和腹泻。肠病性皮炎的家族史呈阳性,因此可以立即怀疑患者的这种诊断,并在基因检测结果获得之前给予含硫酸锌的药物。治疗在几天内就有了反应。患者的基因检测发现SLC39A4基因外显子10有一个新的突变。对婴幼儿伴有脱发和腹泻的肢端皮炎患者进行适当的病史收集和医生对缺锌状况的警惕,将有助于及时、正确地诊断和选择后续的治疗策略。
{"title":"A clinical case of familial enteropathic acrodermatitis caused by a new genetic mutation in exon 10 of the SLC39A4 gene","authors":"A. S. Stadnikova, O. Tamrazova, I. Zakharova, Y. Dmitrieva, A. V. Taganov, A. Yudina, G. E. Bagramova","doi":"10.18786/2072-0505-2021-49-069","DOIUrl":"https://doi.org/10.18786/2072-0505-2021-49-069","url":null,"abstract":"Enteropathic acrodermatitis is a rare form of genodermatoses, a group of hereditary disorders with prevailing skin lesions. The disease manifestation in children is associated with withdrawal of breastfeeding and switch to the cow milk-based products, which makes it difficult to differentiate enteropathic acrodermatitis from allergic dermatoses. We describe a familial case of enteropathic acrodermatitis in a 4-month old girl with advanced skin lesions and diarrhea. The familial history positive for enteropathic dermatitis made it possible to immediately suspect this diagnosis in the patient and to administer a zinc sulfate-containing agent before the genetic test results have become available. The response to therapy was obtained within a few days. Genetic testing of the patient identified a new mutation in exon 10 of the SLC39A4 gene. Proper collection of the past history and physician's vigilance to zinc-deficient conditions in acral dermatitis combined with alopecia and diarrhea in infants would allow for a timely and proper diagnosis and choice of a subsequent management strategy.","PeriodicalId":7638,"journal":{"name":"Almanac of Clinical Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74956490","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: 0
Antitumor efficacy of an isolated hind legperfusion with a pH-increased solution in thePliss’ lymphosarcoma graft rat model 在pliss淋巴肉瘤移植大鼠模型中,经离体后肢灌注ph增加溶液的抗肿瘤效果
Pub Date : 2021-12-24 DOI: 10.18786/2072-0505-2021-49-070
A. Bogdanov, V. Egorenkov, N. Volkov, F. Moiseenko, M. S. Molchanov, N. Verlov, L. S. Gulina, V. Moiseyenko
Background: The technique of regional isolated perfusion makes it possible to increase local levels of an anti-tumor agent, to perform the treatment procedure under hypothermia or hyperthermia, to reduce or even eliminate any systemic effect of a cytostatic on the patient. In this context, the use of isolated perfusion to modify the pH milieu of the tumor seems to be a promising strategy that could potentially ensure the anti-tumor effect. Aim: To evaluate the efficacy of a rat limb perfusion with 4% NaHCO3 solution in vivo in the Pliss' lymphosarcoma rat graft model. Materials and methods: The experiment was carried out in Wistar rats with Pliss' lymphosarcoma graft. The isolated limb was perfused with an isotonic sodium chloride solution (the control group) or a 4% sodium bicarbonate solution (the treatment group). The following parameters were assessed: tumor node growth over time, survival rate, hematology analysis at various time points of the experiment, and histological examination of autopsy samples from the tumor. Results: Median survival in the group perfused with 4% NaHCO3 (N = 6) was 17.2 days, whereas in the non-perfused group (the pathogenesis group) (N = 4) and in the group perfused with isotonic saline (N = 5) they were 13.2 and 13.6 days, respectively. The risk of death in the treatment group was lower compared to that in the control group (Cox regression model, hazard ratio 0.129; 95% confidence interval 0.0280.583; p = 0.0079). There were no significant differences in the tumor growth rate over time in the perfused groups. Conclusion: A single exposure of the tumor micro-milieu in the model with isolated perfusion of the limb with Pliss' lymphosarcoma graft does not lead to any changes in the tumor growth kinetics, but is associated with a change in the animal survival.
背景:局部孤立灌注技术可以增加局部抗肿瘤药物的水平,在低温或高温下进行治疗,减少甚至消除细胞抑制剂对患者的全身影响。在这种情况下,使用分离灌注来改变肿瘤的pH环境似乎是一种有希望的策略,可以潜在地确保抗肿瘤效果。目的:观察4% NaHCO3溶液在活体灌注大鼠肢体移植大鼠Pliss淋巴肉瘤模型中的作用。材料与方法:采用Wistar大鼠移植Pliss淋巴肉瘤进行实验。离体肢体灌注等渗氯化钠溶液(对照组)或4%碳酸氢钠溶液(治疗组)。评估以下参数:肿瘤淋巴结随时间的生长,存活率,实验各时间点的血液学分析,以及肿瘤尸检样本的组织学检查。结果:4% NaHCO3灌注组(N = 6)的中位生存期为17.2 d,未灌注组(发病组)(N = 4)和等渗盐水灌注组(N = 5)的中位生存期分别为13.2和13.6 d。治疗组死亡风险低于对照组(Cox回归模型,风险比0.129;95%置信区间0.0280.583;P = 0.0079)。灌注组肿瘤生长速率随时间变化无显著差异。结论:在Pliss淋巴肉瘤移植肢分离灌注模型中,肿瘤微环境单次暴露不会导致肿瘤生长动力学的改变,但与动物存活率的改变有关。
{"title":"Antitumor efficacy of an isolated hind legperfusion with a pH-increased solution in thePliss’ lymphosarcoma graft rat model","authors":"A. Bogdanov, V. Egorenkov, N. Volkov, F. Moiseenko, M. S. Molchanov, N. Verlov, L. S. Gulina, V. Moiseyenko","doi":"10.18786/2072-0505-2021-49-070","DOIUrl":"https://doi.org/10.18786/2072-0505-2021-49-070","url":null,"abstract":"Background: The technique of regional isolated perfusion makes it possible to increase local levels of an anti-tumor agent, to perform the treatment procedure under hypothermia or hyperthermia, to reduce or even eliminate any systemic effect of a cytostatic on the patient. In this context, the use of isolated perfusion to modify the pH milieu of the tumor seems to be a promising strategy that could potentially ensure the anti-tumor effect. \u0000Aim: To evaluate the efficacy of a rat limb perfusion with 4% NaHCO3 solution in vivo in the Pliss' lymphosarcoma rat graft model. \u0000Materials and methods: The experiment was carried out in Wistar rats with Pliss' lymphosarcoma graft. The isolated limb was perfused with an isotonic sodium chloride solution (the control group) or a 4% sodium bicarbonate solution (the treatment group). The following parameters were assessed: tumor node growth over time, survival rate, hematology analysis at various time points of the experiment, and histological examination of autopsy samples from the tumor. \u0000Results: Median survival in the group perfused with 4% NaHCO3 (N = 6) was 17.2 days, whereas in the non-perfused group (the pathogenesis group) (N = 4) and in the group perfused with isotonic saline (N = 5) they were 13.2 and 13.6 days, respectively. The risk of death in the treatment group was lower compared to that in the control group (Cox regression model, hazard ratio 0.129; 95% confidence interval 0.0280.583; p = 0.0079). There were no significant differences in the tumor growth rate over time in the perfused groups. \u0000Conclusion: A single exposure of the tumor micro-milieu in the model with isolated perfusion of the limb with Pliss' lymphosarcoma graft does not lead to any changes in the tumor growth kinetics, but is associated with a change in the animal survival.","PeriodicalId":7638,"journal":{"name":"Almanac of Clinical Medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84622058","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
A diaphragmatic tumor mimicking gastric neoplasm: a clinical case report 模拟胃肿瘤的横膈膜肿瘤1例临床报告
Pub Date : 2021-12-22 DOI: 10.18786/2072-0505-2021-49-063
P. Burko, M. G. Fedorova, R. R. Iliasov, I. N. Mozhzhukhina
The vast majority of patients with tumors arising from the diaphragm do not have any specific clinical symptoms, therefore, computed tomography (CT) and magnetic resonance imaging (MRI) are the techniques required for the diagnosis. This is particularly relevant when a  pathological mass has grown to an extent producing a “mass effect” on the adjacent organs. In some cases, clinical symptoms of arise due to the local invasion of the neoplasm to the adjacent tissues or distant metastases. We present a rare clinical case of a mesenchymal diaphragmatic tumor in a  34-year-old patient. After a  review of her clinical status and imaging of the abdomen, including CT and MRI, the preliminary diagnosis of the gastric neoplasm of uncertain behavior (D37.1) was made, despite the initial diagnostic assumption of the exogastric location of the mass based on MRI. After careful consideration of the diagnostic assessment results, a  multidisciplinary decision was made to perform laparoscopic resection of the mass. The intraoperative finding was a  tumor originating from the left diaphragmatic cupula with no involvement of the stomach. The patient's recovery was uneventful. Pathological examination revealed a solitary calcifying fibrous tumor of the diaphragm. This clinical case shows that a  mass arising from the diaphragm can mimic one arising from the gastric fundus, leading to an incorrect diagnosis and subsequent inappropriate management.
绝大多数横膈膜肿瘤患者没有任何特定的临床症状,因此,计算机断层扫描(CT)和磁共振成像(MRI)是诊断所需的技术。当病理肿块发展到对邻近器官产生“肿块效应”的程度时,这一点尤为重要。在一些病例中,临床症状是由于肿瘤局部浸润到邻近组织或远处转移引起的。我们报告一个罕见的临床病例间充质膈肿瘤在一个34岁的病人。在回顾了患者的临床情况和腹部影像学(包括CT和MRI)后,初步诊断为行为不确定的胃肿瘤(D37.1),尽管最初的诊断假设是基于MRI肿块位于胃外。在仔细考虑诊断评估结果后,多学科决定进行腹腔镜肿物切除术。术中发现肿瘤起源于左侧膈丘,未累及胃。病人的康复平安无事。病理检查显示膈肌单发钙化纤维瘤。这个临床病例表明,横膈膜上的肿块可以模仿胃底上的肿块,导致错误的诊断和随后不适当的治疗。
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引用次数: 0
Immunological aspects of determination of an adequate biological treatment sequence for inflammatory bowel diseases: the expert board statement (St. Petersburg, May 22, 2021) 确定适当的炎症性肠病生物治疗顺序的免疫学方面:专家委员会声明(圣彼得堡,2021年5月22日)
Pub Date : 2021-12-16 DOI: 10.18786/2072-0505-2021-49-060
E. Belousova, I. Kozlov, D. Abdulganieva, O. Alexeeva, I. Gubonina, A. Lishchinskaya, L. V. Tarasova, E. Chashkova, M. Shapina, O. Shifrin, O. Shchukina
On May 22, 2021, the Expert Board met in St. Petersburg to discuss their position on immunological aspects of determination of an adequate biological treatment sequence for inflammatory bowel diseases (IBD). The Expert Board aimed at discussion of current strategies, development of a consensus on determination of an adequate biological treatment sequence for IBD. The main topics of the agenda were the contribution of immune system to the pathophysiology of Crohn's disease, ulcerative colitis and their complications, efficacy of genetically engineered biological agents (GEBA) at various stages of IBD management. Participation of the leading Russian experts in IBD, as well as involvement of other specialties, made it possible to consider the topic by a multidisciplinary team, with an in-depth analysis of IBD pathophysiology, to better understand the course of the disease in some contradictory situation, for instance, when clinical remission is not associated with an endoscopically confirmed remission. One of the expected effects of this Expert Board meeting would be an improvement of GEBA administration in clinical practice, mostly due to the modification of clinical guidelines. This would ascertain and confirm the algorithms for GEBA administration for IBD, including the optimal treatment sequence depending on an agent’s mechanism of action and the patient profile. The clarification of the optimal GEBA sequence in the clinical guidelines could lead to more frequent GEBA administration in local medical clinics and institutions in the regions, where GEBA are used insufficiently due to little experience and absence of their precise positioning in the clinical guidelines.
2021年5月22日,专家委员会在圣彼得堡举行会议,讨论他们在确定适当的炎症性肠病(IBD)生物治疗顺序的免疫学方面的立场。专家委员会旨在讨论当前的战略,就确定适当的IBD生物治疗顺序达成共识。会议的主要议题是免疫系统对克罗恩病、溃疡性结肠炎及其并发症的病理生理的贡献,基因工程生物制剂(GEBA)在IBD治疗各个阶段的疗效。俄罗斯主要IBD专家的参与,以及其他专业的参与,使得一个多学科小组可以通过对IBD病理生理学的深入分析来考虑这个主题,以便在一些矛盾的情况下更好地了解疾病的进程,例如,当临床缓解与内窥镜证实的缓解无关时。本次专家委员会会议的预期效果之一是改善临床实践中的GEBA管理,主要是由于临床指南的修改。这将确定并确认GEBA治疗IBD的算法,包括根据药物的作用机制和患者情况确定的最佳治疗顺序。临床指南中对GEBA最佳顺序的澄清可能导致各区域的当地医疗诊所和机构更频繁地使用GEBA,这些地方由于缺乏经验和临床指南中没有对GEBA进行精确定位而使用不足。
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引用次数: 0
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Almanac of Clinical Medicine
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