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Prospects of vaccinal prevention of rotavirus infection within the framework of the national immunisation schedule 在国家免疫计划框架内疫苗预防轮状病毒感染的前景
Pub Date : 2023-05-03 DOI: 10.15690/pf.v20i2.2538
A. Editorial
.
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引用次数: 0
Symposium “Lessons of Infections in the Post-Pandemic Period” “大流行后时期感染的教训”专题讨论会
Pub Date : 2023-05-03 DOI: 10.15690/pf.v20i2.2556
A. Editorial
.
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引用次数: 0
Hemolitic Anemia due to Glucose-6-Phosphate Dehydrogenase Deficiency Burdened by Cholelithiasis: Clinical Case 胆石症所致葡萄糖-6-磷酸脱氢酶缺乏所致溶血性贫血临床一例
Pub Date : 2023-03-01 DOI: 10.15690/pf.v20i1.2521
Olga A. Bludova, Ya. M. Chuyko, Luibov E. Larina
Background. Glucose-6-phosphate dehydrogenase deficiency is one of the most frequent enzyme defects leading to hemolysis. About 2% of Russian Federation population have this pathology. This clinical case demonstrates such complication of this disease as cholelithiasis.Clinical case description. Patient B., 17 years old, is followed up by hematologist for anemia due to glucose6-phosphate dehydrogenase deficiency. Biliary calculi were revealed in 2019. Skin and scleral icterus was noted during examination, as well as soreness in the right hypochondrium during palpation. Magnetic resonance cholangiopancreatography has shown two calculi in the distal parts of the ductus choledochus, gallstones, dilatation of the common hepatic and cystic ducts. Complete blood count: hyperchromic megalocytic anemia. Biochemical blood test: hyperbilirubinemia (mostly direct one) after 2 days of hospitalization. Endoscopic lithoextraction from ductus choledochus was performed. Drug therapy was prescribed. Positive dynamics were mentioned at control tests. The patient was discharged in a satisfactory condition on the 10th day.Conclusion. Adequate diagnosis and adequate management promote favorable disease outcome. 
背景。葡萄糖-6-磷酸脱氢酶缺乏是导致溶血的最常见的酶缺陷之一。大约2%的俄罗斯联邦人口有这种病理。这个临床病例显示了这种疾病的并发症如胆石症。临床病例描述。患者B, 17岁,血液科医生随访了由于葡萄糖6-磷酸脱氢酶缺乏症引起的贫血。2019年发现胆道结石。检查时发现皮肤和巩膜黄疸,触诊时发现右侧胁肋疼痛。磁共振胆管造影显示胆总管远端两结石,胆结石,肝总管及胆囊管扩张。全血细胞计数:大细胞性贫血。血生化检查:住院2天后高胆红素血症(多为直接一项)。内镜下胆总管取石术。医生开了药物治疗。在对照试验中提到了正动力学。患者于第10天顺利出院。充分的诊断和适当的管理促进良好的疾病预后。
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引用次数: 0
The World Health Organization has proposed the creation of a council to accelerate the development of new vaccines against tuberculosis 世界卫生组织提议成立一个理事会,以加速开发新的结核病疫苗
Pub Date : 2023-03-01 DOI: 10.15690/pf.v20i1.2531
A. Editorial
.
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引用次数: 0
Angelman syndrome in two siblings: clinical case 兄弟姐妹Angelman综合征的临床研究
Pub Date : 2023-03-01 DOI: 10.15690/pf.v20i1.2527
Uliyana S. Suraeva, Olga M. Matyasova, Anna V. Monakhova, Alla Yu. Shutkova, E. Tush, E. E. Yatsyshina, Marina A. Suslova, O. Khaletskaya
Background. Angelman syndrome (AS) is rare genetic disease characterized by severe mental retardation, gross developmental speech delay, facial dysmorphia, disorders of motor activity, behavior and sleep, epileptic seizures manifestation. Pathology refers to diseases of genomic imprinting. There are four possible mechanisms of pathology development in Angelman syndrome: 15q11.2-q13 deletion on the chromosome 15 of maternal origin, mutation of the ubiquitin ligase (UBE3A) gene at the 15q11.2 locus on the chromosome 15 of maternal origin, uniparental disomy of the 15q11.2-q13 region of paternal origin, imprinting center defect.Clinical case description. Clinical picture of Angelman syndrome in two twin sibs (boy E., girl V.) observed in Children’s City Clinical Hospital № 1 in Nizhny Novgorod is presented. Children from consecutive pregnancy with dichorionic-diamniotic twins; preterm birth at 30 weeks. There was burdened obstetric-biological and perinatal history due to the threatened miscarriage during this pregnancy and due to asphyxia of both children during delivery. The disease has classical course in both patients: static functions development delay, gross developmental speech and intellectual delay, behavioral and motor disorders (stereotypy, tremor, ataxia, episodes of unmotivated laughter, sleep disorders), presence of typical facial dysmorphia. This diagnosis was confirmed by the molecular genetic study (boy — mutation in exon 7 of the UBE3A gene, girl — mutations in exons 6 and 7 of the UBE3A gene). Features of epileptic seizure therapy in both patients are presented.Conclusion. The presented clinical case demonstrates typical clinical picture of AS in two sibs confirmed by molecular genetic study. The therapy of this syndrome is very complicated. The described patients require constant anticonvulsant therapy, observation of neurologist, psychotherapist, working with speech pathologist. Complete correction of this syndrome is impossible. 
背景。天使人综合征(Angelman syndrome, AS)是一种罕见的遗传性疾病,主要表现为严重的智力迟钝、发育性语言迟缓、面部畸形、运动、行为和睡眠障碍、癫痫发作等。病理学是指基因组印记疾病。Angelman综合征的病理发生机制可能有四种:母源15号染色体15q11.2-q13缺失、母源15号染色体15q11.2位点泛素连接酶(UBE3A)基因突变、父源15q11.2-q13区域单亲二体、印迹中心缺陷。临床病例描述。本文介绍了下诺夫哥罗德儿童城市第一临床医院观察到的两个双胞胎兄弟(男孩E.,女孩V.)的Angelman综合征的临床情况。双绒毛膜-双羊膜双胞胎连续妊娠的儿童;30周早产。由于怀孕期间的流产威胁和分娩时两个孩子的窒息,有沉重的产科生物学和围产期病史。该疾病在两例患者中都有典型的病程:静态功能发育迟缓,言语和智力发育迟缓,行为和运动障碍(刻板印象,震颤,共济失调,无动机的笑声发作,睡眠障碍),存在典型的面部畸形。分子遗传学研究证实了这一诊断(UBE3A基因外显子7突变为男孩,UBE3A基因外显子6和7突变为女孩)。本文介绍了两例患者的癫痫发作治疗特点。本病例为分子遗传学研究证实的两兄妹典型的AS临床表现。这种综合征的治疗非常复杂。所描述的患者需要持续的抗惊厥药物治疗,神经学家,心理治疗师的观察,语言病理学家的工作。完全纠正这种综合症是不可能的。
{"title":"Angelman syndrome in two siblings: clinical case","authors":"Uliyana S. Suraeva, Olga M. Matyasova, Anna V. Monakhova, Alla Yu. Shutkova, E. Tush, E. E. Yatsyshina, Marina A. Suslova, O. Khaletskaya","doi":"10.15690/pf.v20i1.2527","DOIUrl":"https://doi.org/10.15690/pf.v20i1.2527","url":null,"abstract":"Background. Angelman syndrome (AS) is rare genetic disease characterized by severe mental retardation, gross developmental speech delay, facial dysmorphia, disorders of motor activity, behavior and sleep, epileptic seizures manifestation. Pathology refers to diseases of genomic imprinting. There are four possible mechanisms of pathology development in Angelman syndrome: 15q11.2-q13 deletion on the chromosome 15 of maternal origin, mutation of the ubiquitin ligase (UBE3A) gene at the 15q11.2 locus on the chromosome 15 of maternal origin, uniparental disomy of the 15q11.2-q13 region of paternal origin, imprinting center defect.Clinical case description. Clinical picture of Angelman syndrome in two twin sibs (boy E., girl V.) observed in Children’s City Clinical Hospital № 1 in Nizhny Novgorod is presented. Children from consecutive pregnancy with dichorionic-diamniotic twins; preterm birth at 30 weeks. There was burdened obstetric-biological and perinatal history due to the threatened miscarriage during this pregnancy and due to asphyxia of both children during delivery. The disease has classical course in both patients: static functions development delay, gross developmental speech and intellectual delay, behavioral and motor disorders (stereotypy, tremor, ataxia, episodes of unmotivated laughter, sleep disorders), presence of typical facial dysmorphia. This diagnosis was confirmed by the molecular genetic study (boy — mutation in exon 7 of the UBE3A gene, girl — mutations in exons 6 and 7 of the UBE3A gene). Features of epileptic seizure therapy in both patients are presented.Conclusion. The presented clinical case demonstrates typical clinical picture of AS in two sibs confirmed by molecular genetic study. The therapy of this syndrome is very complicated. The described patients require constant anticonvulsant therapy, observation of neurologist, psychotherapist, working with speech pathologist. Complete correction of this syndrome is impossible. ","PeriodicalId":19997,"journal":{"name":"Pediatric pharmacology","volume":"35 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79953726","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
Transient deficiency of protein S after past infection process, complications and outcome: clinical case 既往感染过程后一过性蛋白S缺乏、并发症及结局:临床一例
Pub Date : 2023-03-01 DOI: 10.15690/pf.v20i1.2532
O. Gordeeva, Albina V. Dobrotok, L. Selimzianova, Valeria A. Deeva
Background. Purpura fulminans (PF) – is an acute rapidly progressive thrombosis of small-diameter blood vessels located mainly on the skin of the extremities. PF is characterized by high mortality rates. Patients can have serious consequences, including amputations and loss of fingers, foots or even extremities in general.Clinical case description. A clinical case of developing transient deficiency of protein S complicated by idiopathic PF on the 7th day after acute otitis in a 3-year-old boy due to past infection is presented. The progression of the disease developed within a few hours. The patient became hemorrhagic elements on the skin of extremities, and later — tissue necrosis. The conducted therapy facilitated to stop the pathological process in the form of PF, and also prevented the development of severe disabling complications in the child.Conclusion. Differential diagnosis and treatment should be fast and accurate, as the development of PF occurs in mere hours. Diagnostics should include expanded panel of coagulological tests and instrumental examinations, which determines the justifiability of a multidisciplinary approach in the patient management with disorders in the hemostatic system. 
背景。暴发性紫癜(PF) -是一种急性进行性血栓形成的小直径血管主要位于四肢皮肤。PF的特点是死亡率高。病人可能会有严重的后果,包括截肢和失去手指、脚甚至四肢。临床病例描述。本文报道一例3岁男童因既往感染急性中耳炎后第7天出现短暂性S蛋白缺乏并发特发性PF的临床病例。疾病在几个小时内就恶化了。患者四肢皮肤出现出血性元素,后来出现组织坏死。所进行的治疗有助于阻止PF形式的病理过程,也防止了儿童严重致残并发症的发展。鉴别诊断和治疗应该是快速和准确的,因为PF的发展发生在短短几小时内。诊断应包括扩大的凝血试验和仪器检查,这决定了在止血系统疾病患者管理中采用多学科方法的合理性。
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引用次数: 0
High Comorbidity in Premature Infant: Abdominal Aortic Thrombosis, Wolff-Parkinson-White Syndrome, Secondary Hypothyroidism 早产儿的高合并症:腹主动脉血栓,沃尔夫-帕金森-怀特综合征,继发性甲状腺功能减退
Pub Date : 2023-02-28 DOI: 10.15690/pf.v20i1.2524
Alena S. Tikhonova, A. Kozlova, Anna A. Tsaturova
Background. Neonatal thromboses, both venous and arterial, are a rare pathology, and experience in systemic thrombolysis is very low. Thus, the methods of adult management are currently being adapted to pediatric practice.Clinical case description. This report describes clinical case of abdominal aortic thrombosis in a premature infant with later diagnosed Wolff-ParkinsonWhite syndrome and acquired hypothyroidism developed due to antiarrhythmic therapy.Conclusion. The premature boy had high comorbidity that required many specialists’ involvement. Timely systemic thrombolytic therapy and antiarrhythmic drugs selection made it possible to save the child's life and most likely to avoid disability in the future. 
背景。新生儿血栓形成,无论是静脉血栓还是动脉血栓,都是一种罕见的病理,并且全身溶栓的经验非常少。因此,成人管理的方法目前正在适应儿科实践。临床病例描述。本文报告一例早产儿腹主动脉血栓形成,后诊断为沃尔夫-帕金森-怀特综合征,并因抗心律失常治疗而发展为获得性甲状腺功能减退。早产男孩有很高的合并症,需要许多专家的参与。及时的全身溶栓治疗和抗心律失常药物的选择使挽救孩子的生命成为可能,并最有可能避免未来的残疾。
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引用次数: 0
Homozygous Methemoglobinemia Course in a 2-Year-Old Girl 2岁女童纯合子高铁血红蛋白血症病程
Pub Date : 2023-02-28 DOI: 10.15690/pf.v20i1.2526
Marina S. Malyugina, D. A. Lavrova, Ekaterina A. Matveeva
Background. Methemoglobinemia is a group of diseases caused by various factors where methemoglobin (MetHb) content in the blood increases above the physiological norm.Clinical case description. Clinical case of methemoglobinemia that was an incidental finding in two-year-old girl who was in the clinic due to the head injury is presented. Our examinations have revealed zero activity of cytochrome-b5-reductase enzyme. This fact indicates homozygous mutation. The cyanosis and hypoxia were relieved by ascorbic acid courses (250 mg/day).Conclusion. Increased alertness regarding long-term isolated cyanosis should be presented when excluding its most common causes. Timely management could prevent severe complications development. 
背景。高铁血红蛋白血症是由多种因素引起的血液中高铁血红蛋白(MetHb)含量高于生理标准的一组疾病。临床病例描述。高铁血红蛋白血症的临床病例是一个偶然发现在两岁的女孩谁是在诊所由于头部受伤提出。我们的检查显示细胞色素b5还原酶的活性为零。这一事实表明纯合突变。抗坏血酸疗程(250 mg/d)可减轻发绀和缺氧。当排除其最常见的原因时,应提高对长期孤立紫绀的警觉性。及时处理可预防严重并发症的发生。
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引用次数: 0
Clinical Case of X-Linked Lymphoproliferative Syndrome Burdened with Hemophagocytic Lymphohistiocytosis and Crohn's Disease 嗜血球性淋巴组织细胞增多症伴克罗恩病的x连锁淋巴细胞增生性综合征临床分析
Pub Date : 2023-02-28 DOI: 10.15690/pf.v20i1.2522
Ekaterina S. Matros, Alena I. Karitskaya
Background. X-linked lymphoproliferative (XLP) syndrome is hereditary disease with the incidence of 1-3 per 1 million born boys. This clinical case demonstrates a rare picture of XLP type 2 manifestation without prior Epstein-Barr virus.Clinical case description. Boy D., 15 years old, was admitted to Morozovskaya Children's City Hospital with complaints on fever, abdominal pain, loose stools, weight loss. The past medical history included hemophagocytic syndrome (remission) and acute erythema nodosum. We have performed several studies: abdominal ultrasound (hepatomegaly, dynamic changes in the intestine: parts of the small intestine were enlarged and walls were thickened, mass peristalsis, walls of transverse colon and descending colon are thickened up to 5 mm, mesenteric lymphadenopathy), rectosigmoidoscopy (high-activity ulcerative proctosigmoiditis corresponds to Crohn's disease), biochemical and clinical blood tests (active hemophagocytic syndrome), coagulogram (secondary hypocoagulation), myelogram (no data on hemoblastosis or aplastic condition). Virological blood tests (CMV, EBV, HHV-VI): negative. Laboratory and instrumental tests have revealed recurrence of hemophagocytic syndrome and Crohn's disease. The child was consulted by rheumatologist, hematologist, gastroenterologist, geneticist, neurologist, and clinical pharmacologist. The primary immune deficiency disease was suspected in this patient due to his medical history. Molecular genetic study was performed (deletion including the XIAP gene was revealed) and the diagnosis of primary immune deficiency was verified: X-linked lymphoproliferative syndrome type 2. Thus, allogeneic haematopoietic stem cell transplantation (HSCT) was performed.Conclusion. XLP diagnosis and management require multidisciplinary approach. The early diagnosis is crucial due to the high risk of secondary complications development that can significantly worsen the disease's prognosis. Allogeneic HSCT is the only effective treatment for the disease. 
背景。x连锁淋巴细胞增生性(XLP)综合征是一种遗传性疾病,发病率为1-3 / 100万出生男孩。本病例为罕见的无eb病毒的XLP 2型表现。临床病例描述。男孩D, 15岁,因发烧、腹痛、便稀、体重减轻被送入莫罗佐夫斯卡亚儿童城市医院。既往病史包括噬血细胞综合征(缓解期)和急性结节性红斑。我们做了几项研究:腹部超声(肝肿大,肠道动态变化;小肠部分肿大,肠壁增厚,肿块性蠕动,横结肠和降结肠壁增厚达5mm,肠系膜淋巴结病,直肠乙状结肠镜检查(高活性溃疡性乙状结肠炎对应克罗恩病),生化和临床血液检查(活动性噬血细胞综合征),凝血图(继发性低凝),骨髓图(无造血增生或再生状况)。病毒学血检(巨细胞病毒、EBV、HHV-VI):阴性。实验室和仪器检查显示噬血细胞综合征和克罗恩病复发。风湿病学家、血液病学家、胃肠病学家、遗传学家、神经科医生和临床药理学家咨询了该儿童。根据患者的病史,怀疑为原发性免疫缺乏症。进行分子遗传学研究(发现包括XIAP基因缺失),证实原发性免疫缺陷的诊断:x连锁淋巴细胞增生性综合征2型。因此,进行同种异体造血干细胞移植(HSCT)是可行的。XLP的诊断和管理需要多学科的方法。早期诊断是至关重要的,因为继发性并发症发展的高风险,可显着恶化疾病的预后。同种异体造血干细胞移植是治疗该疾病的唯一有效方法。
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引用次数: 0
Protective Role of Vaccination against Tuberculosis and Hepatitis B in Prevention of Atopic Dermatitis: Report on Intermediate Results of Prospective Cohort Study 结核病和乙型肝炎疫苗在预防特应性皮炎中的保护作用:前瞻性队列研究的中期结果报告
Pub Date : 2023-02-27 DOI: 10.15690/pf.v20i1.2525
Veronika A. Petrova, L. Namazova-Baranova, M. Fedoseenko, D. Rusinova
Background. Studies have shown that vaccination in the first hours/days after birth shifts the immune response from intrauterine Th2 towards Th1-type activation and reduces the risk of atopic conditions. However, we did not find published data from prospective studies on this topic.Objective. The aim of the study is to define the presence of negative correlation between vaccination against tuberculosis and hepatitis B in the first hours/days of life and atopic dermatitis development in infants.Methods. Continuous prospective study of children cohort born from April to June 2021 and observed in one outpatient’s clinic was carried out. Data from 307 infant’s records (F. 112/y), vaccination record cards (F. 063/y), prenatal and delivery records (F. 113/y-20, section № 3), and neonatal discharge summaries were analyzed for the decreed period. The child vaccination status (by the time of vaccination against tuberculosis and hepatitis B), presence of risk factors for allergic disease development, and presence of atopic dermatitis were evaluated.Results. Atopic dermatitis (AD) was significantly less likely to be diagnosed by the age of 1 year in infants from the group of BCG-M vaccinated at maternity hospital than in those vaccinated later or not vaccinated at all (15.2% versus 66% and 35.7%, respectively; p < 0,01). AD was less likely to develop in children with risk factors for allergic disease who were vaccinated against tuberculosis in the maternity hospital than in those vaccinated later or unvaccinated at all (18, 75 and 62.5%, respectively; p < 0.01). The ratio of children with diagnosed AD by the age of 12 months was significantly less in the group of children vaccinated against hepatitis B in the maternity hospital than in those vaccinated later or unvaccinated at all (17.6, 44.9 and 31.8%, respectively; p < 0.01). These ratios for children with risk of allergic disease development were 24%, 50% and 44.4%, respectively (p = 0.043). It has also been shown that timely vaccination with both vaccines in the early neonatal period significantly reduces the risk of AD in general infant population compared to non-vaccinated individuals or those who had only one vaccine (odds ratio [OR] 0.374; 95% confidence interval [CI] 0.253-0.552; p < 0.01). Whereas the disease development in children with allergic risk is less likely with timely vaccination (20.8% versus 53.3%; OR = 0.252; 95% CI 0.145–0.440; OR = 0.374; 95% CI 0,253–0,552; p < 0,01).Conclusion. The obtained results may indicate possible risk reduction for AD development due to timely preventive vaccination against tuberculosis and hepatitis B, especially in children with allergic risk. The study is currently ongoing. 
背景。研究表明,在出生后的头几个小时或几天内接种疫苗可将免疫反应从宫内Th2转向th1型激活,并降低特应性疾病的风险。然而,我们没有找到关于这一主题的前瞻性研究的公开数据。本研究的目的是确定在生命最初几小时/天内接种结核病和乙型肝炎疫苗与婴儿特应性皮炎发展之间存在负相关关系。对2021年4月~ 6月出生并在1个门诊就诊的患儿队列进行连续前瞻性研究。对307例婴儿记录(F. 112/y)、疫苗接种记录卡(F. 063/y)、产前和分娩记录(F. 113/y-20,第3节)和新生儿出院摘要的数据进行了分析。评估儿童疫苗接种状况(到接种结核病和乙型肝炎疫苗时)、过敏性疾病发展危险因素的存在以及特应性皮炎的存在。在妇产医院接种BCG-M的婴儿在1岁前被诊断出AD的可能性明显低于晚接种或根本未接种的婴儿(分别为15.2%对66%和35.7%;P < 0.01)。在妇产医院接种结核病疫苗的具有过敏性疾病危险因素的儿童发生AD的可能性低于晚接种或未接种的儿童(分别为18%、75%和62.5%);P < 0.01)。在妇产医院接种乙肝疫苗的儿童12月龄诊断为AD的比例明显低于晚接种或未接种的儿童(分别为17.6%、44.9%和31.8%);P < 0.01)。发生变应性疾病风险儿童的这一比例分别为24%、50%和44.4% (p = 0.043)。也有研究表明,与未接种疫苗的个体或仅接种一种疫苗的个体相比,在新生儿早期及时接种两种疫苗可显著降低一般婴儿人群发生阿尔茨海默病的风险(优势比[or] 0.374;95%置信区间[CI] 0.253 ~ 0.552;P < 0.01)。在有过敏风险的儿童中,及时接种疫苗的发病率较低(20.8% vs 53.3%;Or = 0.252;95% ci 0.145-0.440;Or = 0.374;95% ci为0,253-0,552;p < 0.01)。所得结果可能表明,及时预防接种结核病和乙型肝炎疫苗,特别是有过敏风险的儿童,可能会降低AD发展的风险。这项研究目前正在进行中。
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引用次数: 0
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Pediatric pharmacology
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