Current pediatrics最新文献

{"title":"Role of Genetic Testing and Complex Endoscopic Examination in Differential Diagnosis of Hereditary Polyposes in Pediatric and Adolescent Patients: 10 Years Clinical Experience","authors":"T. Belysheva, T. Nasedkina, T. T. Valiev, E. Sharapova, V. V. Semenova, V. Kozlova, S. Mikhaylova, I. Kletskaya, Alexey V. Butuzov, Y. Vishnevskaja, Valeria V. Lozovaya, O. Gusarova, Armen O. Tumanyan, Olga A. Malichova, S. Varfolomeeva","doi":"10.15690/vsp.v22i4.2614","DOIUrl":"https://doi.org/10.15690/vsp.v22i4.2614","url":null,"abstract":"Background. Hereditary polyposis syndromes (HPS) are a group of rare genetic diseases characterized by multiple epithelial lesions in the gastrointestinal tract (GIT) with high risk of malignancy and neoplasia development in other localizations. The case follow-up tactics in hereditary polyposes have significant differences, and differential diagnosis can be complicated due to the phenotype variability and the clinical manifestations similarity. Objective. The aim of the study is to determine the role of molecular genetic testing and endoscopic examination in the diagnosis and management of children with HPS. Materials and methods. The retrospective observational study included 17 patients with clinical signs of hereditary polyposes who applied to the L.A. Durnov Research Institute of Pediatric Oncology and Hematology during the period from 2013 to 2023. All patients underwent molecular genetic testing and comprehensive endoscopic examination of upper and lower GIT. Results. We have divided patients into 7 groups according to the results of genetic testing. Patients had various mutations in genes associated with hereditary tumor syndromes: STK11 (35.3%; n = 6), APC (17.6%; n = 3), PTEN (11.8%; n = 2), SMAD4 (5.9%; n = 1), BMPR1A (5.9%; n = 1), MUTYH (5.9%; n = 1), MLH1 (5.9%; n = 1). One female patient with colorectal cancer with history of adenomatous polyp had pathogenic variants in the ATM and CHEK2 genes; it could be considered as multi-locus tumor syndrome (MINAS) (5.9%, n = 1). Another female patient (5.9%) had multiple gastric body hamartoma polyps and multiple gastric gastrointestinal stromal tumors (GIST) but with no pathogenic mutations. Complex endoscopic examination was performed in 14 (82.3%) patients. Epithelial or non-epithelial lesions of the stomach and intestine were revealed in all cases. Malignant tumors of duodenum and colon were diagnosed in 3 out of 14 patients (21.4%). Morphological variants of these GIT lesions were represented by hamartoma, hyperplastic, and juvenile polyps, adenomas, serrated adenomas, adenocarcinoma, and GIST. The diagnosed epithelial lesions of the stomach, duodenum, and colon were removed via endoscopic polypectomy and endoscopic mucosal resection in 8 out of 14 patients (57.1%). Some cases required small bowel resection (14.3%, n = 2), total colectomy (14.3%, n = 2), and gastrectomy (14.3%, n = 2). Conclusion. Understanding the molecular and biological etiology of HPS, its endoscopic diagnosis, and treatment features allows us to optimize the management of such patients and to minimize the risks of developing malignant tumors in upper and lower GIT, as well as extraintestinal tumors by carrying out timely medical and preventive measures.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80967975","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}

{"title":"Viral Encephalitis (Human Herpes Virus Type 6) after COVID-19 in a Child: Clinical Case","authors":"R. Zhetishev, D. R. Arkhestova, Oksana A. Pacheva, Lidiya R. Dinaeva, E. Kamyshova, Zh.Yu. Pazova","doi":"10.15690/vsp.v22i3.2588","DOIUrl":"https://doi.org/10.15690/vsp.v22i3.2588","url":null,"abstract":"Background. Immune system disorders early after COVID-19 are associated with high risk of other infections development, including viral ones. Their diagnosis is complicated especially in the absence of clinical symptoms of primary infection and alongside with serious disease course. There are no reports on encephalitis development due to reactivation of latent viral infection.Clinical case description. Girl, 4 years-old, had psycho-neurological symptoms followed by tonic seizures on the next day. The child was hospitalized on the 3rd day after disease onset with preliminary diagnosis of viral encephalitis. The child has contacted with patients with laboratory-confirmed new coronavirus infection 3-4 weeks before the disease onset, later she had signs of mild respiratory infection (no examination of SARS-CoV-2 was carried out). Autoimmune nature of central nervous system injury was suspected after excluding a wide range of infections (negative PCR results for SARS-CoV-2, cytomegalovirus, herpes simplex virus, Epstein-Barr virus, toxoplasma, enterovirus), however it was not confirmed later on. Human herpes virus type 6 was revealed via blood tests and oropharyngeal swаb on the 15th day of disease. High concentration of IgG antibodies to SARS-CoV-2 was found was revealed as well. Treatment (antibacterial, anticonvulsant, anticoagulant, antiviral, immunosupportive, and sedative therapy, glucocorticosteroids) did not achieve significant improvement. Brain MRI (on the 23rd day of the disease) has shown leukoencephalopathy zones in subcortical white matter of convexital surfaces of parietal and occipital lobes, subatrophic changes in white matter of cerebral hemispheres with moderate vicarious enlargement of the subarachnoid spaces. Disease progression led to patient’s death on the 32nd day after first signs appearance.Conclusion. The development of severe viral encephalitis (as a result of primary herpes virus infection or its reactivation) in the early period after mild COVID-19 is shown. Its cause-effect relations require further examination.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83670641","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}

{"title":"Skill levels of pediatrician, organizer, teacher (to the 75th anniversary of prof. A.S. Simakhodsky)","authors":"N. P. Shabalov, I. Leonova","doi":"10.15690/vsp.v22i3.2569","DOIUrl":"https://doi.org/10.15690/vsp.v22i3.2569","url":null,"abstract":"<jats:p>.</jats:p>","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87145417","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}

{"title":"Dmitry Egorovich Gorokhov (1863–1921): Founder of Pediatric Surgery and Promoter of Child Welfare in Moscow","authors":"V. N. Shelkova","doi":"10.15690/vsp.v22i3.2570","DOIUrl":"https://doi.org/10.15690/vsp.v22i3.2570","url":null,"abstract":"The article dwells upon Dmitry Egorovich Gorokhov, prominent representative of the Moscow pediatric school. D.E. Gorokhov, as the chief physician and director of the Sofia Children’s Hospital in Moscow, is well-recognized as the author of the first Russian pediatric surgery guidelines and he is rightfully considered the founder of this discipline. Management tactics for such socially significant diseases in children as appendicitis, tuberculosis of bones and joints, tumors, and various congenital abnormalities were developed under his supervision. D.E. Gorokhov was the first who summarized the experience of using anesthesia in pediatric surgery. He became the initiator and organizer of nutrition in Moscow municipal schools. The scientific, practical, educational, and social activities of the doctor and scientist who notably contributed to the child welfare are shown.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84407021","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}

{"title":"Severe Hypocalcemia in the Adolescent as the Only Manifestation of 22q11 Microdeletion Syndrome: Clinical Case","authors":"Anastasia O. Vechkasova, N. Buchinskaya, M. Kostik","doi":"10.15690/vsp.v22i3.2571","DOIUrl":"https://doi.org/10.15690/vsp.v22i3.2571","url":null,"abstract":"Background. In this article, we would like to describe the atypical clinical picture and course of 22q11 microdeletion syndrome in a patient without specific phenotypic signs and symptoms typical for this disease.Clinical case description. Male patient, 13 years old, was hospitalized for the first time with seizure and multiple spinal fractures caused by hypocalcemia. He was referred to rheumatologist and clinical geneticist after hospital stay. Differential diagnosis included not only various bones metabolic diseases, but also 22q11 deletion syndrome. Later it was confirmed via FISH test.Conclusion. This clinical case proves once again the uniqueness of every single case, as well as the importance of comprehensive approach to the diagnosis and management of such patients.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82923040","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}

{"title":"Familial Hypercholesterolemia in Children. The Current State of the Problem","authors":"D. Sadykova, K. Salakhova, L. F. Galimova, E. Slastnikova, C. Khaliullina","doi":"10.15690/vsp.v22i3.2576","DOIUrl":"https://doi.org/10.15690/vsp.v22i3.2576","url":null,"abstract":"Cardiovascular diseases are the leading cause of disability and mortality worldwide. Cardiovascular mortality rate is steadily increasing despite the large-scale preventive measures. Familial hypercholesterolemia is the most common genetically determined disorder of lipid metabolism as the major cause of blood circulatory system diseases development and progression. Worldwide, there are 6.8–8.5 million children with this primary dyslipidemia. Early (in childhood) diagnosis of familial hypercholesterolemia is crucial for the timely initiation of lipid-lowering therapy in order to reduce the atherosclerosis progression and the risk of life-threatening cardiovascular events. New screening programs have been implemented, new biomarkers of the disease have been studied, and lipid-lowering drugs with new mechanisms of hypolipidemic action have been developed to increase the efficacy of these activities in economically developed countries.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89463883","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}

{"title":"Prenatal and Postnatal Diagnosis of Intrauterine Ovarian Torsion","authors":"E. Sibirskaya, I. Karachentsova, Alsu R. Minazhetdinova, M. Chernysheva, Adelina A. Khairullina","doi":"10.15690/vsp.v22i3.2578","DOIUrl":"https://doi.org/10.15690/vsp.v22i3.2578","url":null,"abstract":"Intrauterine ovarian torsion is the most common complication of ovarian cysts in fetuses. This pathology is asymptomatic in the postnatal period, thus, it is difficult to diagnose especially in cases then torsion signs were not revealed before birth. This review presents the criteria used in pre- and postnatal diagnosis of ovarian torsion. The main ultrasound markers were identified, as well as the possibilities of using MRI were considered. Timely diagnosis of this pathology in prenatal period contributes to more careful examination of the child after birth. This will determine the management tactics, preserve girl's reproductive function, and avoid any complications from other organs and systems.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73252439","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}

{"title":"Post-COVID Syndrome in Children: One-Time Survey Study of Parents’ Opinion","authors":"D. R. Shagieva, M. Kutlubaev, A. R. Rakhmatullin","doi":"10.15690/vsp.v22i3.2582","DOIUrl":"https://doi.org/10.15690/vsp.v22i3.2582","url":null,"abstract":"Background. COVID-19 symptoms often persist for a long time, it indicates the post-COVID syndrome development. Its frequency in children population is generally studied by interviewing the children themselves. This approach limits the risk evaluation of post-COVID syndrome development in young children who are unable to describe the persistent symptoms due to their age.Objective. The aim of the study is to evaluate the prevalence of post-COVID syndrome in children and its effect on their daily activities by interviewing parents.Methods. The survey covered parents of children (aged from 3 months to 18 years) who suffered laboratory-confirmed COVID-19 in 2021–2022 but not earlier than 12 weeks before study initiation. The survey was conducted on-line. The presence of the symptoms (persisted or occurred 12 weeks after COVID-19), its impact on children’s daily life, the need for medical treatment or doctor's advice (due to these post-covid symptoms) and vaccination against novel coronavirus infection were evaluated. Incidence of post-COVID syndrome was analyzed in subgroups based on sex, age (< 3 years, 3–6 and 7–17 years), and disease severity.Results. Invitations to participate in the study were sent to 2292 parents of all children registered at the clinic and suffered from COVID-19 via WhatsApp and Telegram messengers. 1533 (66.9%) of them agreed to take part in the survey, and 1258 (54.8%) filled out the questionnaire in full. The survey has revealed that at least one symptom that persisted or occurred 12 weeks after COVID-19 was noted by parents in 764 out of 1258 (60.6%) children (more often in the older age group and in severe cases). Significant negative impact of symptoms on children’s daily life was noted by 251 out of 764 (32.9%) respondents. Parents of 734 out of 764 (96.1%) children have visited a doctor due to post-COVID syndrome symptoms.Conclusion. Post-COVID syndrome develops in more than 60% of children after laboratory-confirmed COVID-19, according to parents. However, we have reasons to believe that parental estimations could overestimate the prevalence of post-COVID syndrome.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86361907","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}

{"title":"Development of Children’s Palliative Care in Perm Krai","authors":"R. I. Islamova, N. V. Minaeva, Svetlana P. Baranova, Irina E. Berber, Nataliia V. Dolgomirova","doi":"10.15690/vsp.v22i3.2579","DOIUrl":"https://doi.org/10.15690/vsp.v22i3.2579","url":null,"abstract":"Palliative care as a system is presented in Russia for a little over 10 years. Moreover, such care in every region has its own local-specific scheme and infrastructure. This article presents the results the analysis of palliative care state and availability in Perm Krai, covers its strengths and weaknesses that are crucial for executive decisions-making and for further children’s palliative care development.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81493048","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}

{"title":"Infravesical Obstruction in a Boy with Orthotopic Ureterocele: Clinical Case","authors":"A. A. Bebenina, O. Mokrushina, M. Levitskaya, V. Shumikhin, Nadezhda N. Erokhina","doi":"10.15690/vsp.v22i2.2564","DOIUrl":"https://doi.org/10.15690/vsp.v22i2.2564","url":null,"abstract":"Background. Ureterocele is a cystic dilatation of the distal ureter. Orthotopic ureterocele is relatively rare form of this disease, and it is commonly diagnosed in female children. The clinical picture of orthotopic ureterocele is usually not significant, and the management variants are unclear. Clinical case description. Ultrasound has revealed dilatation in the distal part of the left ureter (up to 6.5 mm) and cyst formation (diameter of 8 mm, thick walls) in the bladder in 8-months-old boy. The retrograde voiding cystourethrogram has shown no signs of vesicoureteral reflux. The evaluation of the voiding rhythm was performed: the volume of residual urine was > 30%, it indicates the infravesical obstruction. The child underwent diagnostic cystourethroscopy, transurethral resection of the ureterocele, intubation ureteral catheter in the left ureter (all procedures was performed under general anesthesia). There were no enlargements of calices-pelvis system and ureters 12 months after surgery according to urinary system ultrasound. Clinical urine test with no inflammatory changes. Voiding rhythm was without pathology.Conclusion. The widespread implementation of high-tech and minimally invasive methods of diagnosis and management allow us to achieve timely detection and provide effective treatment for children with ureterocele.","PeriodicalId":10867,"journal":{"name":"Current pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82632534","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}