Pediatric pharmacology最新文献_第2页

SYMPOSIUM “VACCINE-PREVENTABLE DISEASES IN A MEGALOPOLIS. PROSPECTS FOR THE MODERNIZATION OF THE REGIONAL CALENDAR OF PREVENTIVE VACCINATIONS” 研讨会 "特大城市中的疫苗可预防疾病。地区预防接种日程现代化的前景 "研讨会

Pediatric pharmacology Pub Date : 2024-05-11 DOI: 10.15690/pf.v21i2.2729

A. Editorial

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Successful Treatment of Multiple Arterial Thrombosis in Premature Infant: Clinical Case 成功治疗早产儿多发性动脉血栓：临床病例

Pediatric pharmacology Pub Date : 2024-05-11 DOI: 10.15690/pf.v21i2.2747

Ekaterina S. Matros, Anton O. Aksenov, Sofia A. Demina, Luibov E. Larina

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SYMPOSIUM “MAGNESIUM DEFICIENCY IN PEDIATRIC PRACTICE: VERSIONS AND CONTRAVERSIONS” 专题讨论会 "儿科实践中的镁缺乏症：版本与禁忌"

Pediatric pharmacology Pub Date : 2024-05-11 DOI: 10.15690/10.15690/pf.v21i2.2727

A. Editorial

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SYMPOSIUM “HPV VACCINATION — A FUTURE WITHOUT CERVICAL CANCER” HPV 疫苗接种--没有宫颈癌的未来 "研讨会

Pediatric pharmacology Pub Date : 2024-05-11 DOI: 10.15690/pf.v21i2.2728

A. Editorial

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SYMPOSIUMS “CHALLENGENG ROAD TO LONG-TERM CONTROL OF BRONCHIAL ASTHMA: HOW TO BUILD A ROUTE?” AND “EARLY INTERVENTION IN THE MANAGEMENT OF PATIENTS WITH ATOPIC DERMATITIS” 研讨会 "长期控制支气管哮喘的挑战之路：如何开辟一条道路？和 "特应性皮炎患者管理中的早期干预"

Pediatric pharmacology Pub Date : 2024-05-11 DOI: 10.15690/pf.v21i2.2738

A. Editorial

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XXV CONGRESS OF PEDIATRICIANS OF RUSSIA WITH INTERNATIONAL PARTICIPATION “ACTUAL PROBLEMS OF PEDIATRICS” 第 XXV 届俄罗斯儿科医生大会（国际参与 "儿科实际问题"

Pediatric pharmacology Pub Date : 2024-05-11 DOI: 10.15690/pf.v21i2.2750

A. Editorial

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SYMPOSIUMS “COMING TO SCHOOL SOON: CLINICAL DISCUSSIONS AND NEW ALGORITHMS” AND “NIEMANN — PICK DISEASE TYPE A/B: THE DIFFICULTIES OF DIAGNOSIS AND THE POSSIBILITIES OF THERAPY” 即将入学：临床讨论和新算法 "和 "尼曼-皮克病 A/b 型：诊断的困难和治疗的可能性 "研讨会

Pediatric pharmacology Pub Date : 2024-05-11 DOI: 10.15690/pf.v21i2.2737

A. Editorial

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SYMPOSIUM “RARE DISEASES, HOW TO SUSPECT, WHAT TO PAY ATTENTION TO” 专题讨论会 "罕见疾病，如何怀疑，注意什么"

Pediatric pharmacology Pub Date : 2024-05-11 DOI: 10.15690/pf.v21i2.2749

A. Editorial

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Premature ovarian insufficiency in patients with galactosemia 半乳糖血症患者过早出现卵巢功能不全

Pediatric pharmacology Pub Date : 2024-05-11 DOI: 10.15690/pf.v21i2.2721

I. Karachentsova, E. Sibirskaya, Adelina A. Khairullina

{"title":"Premature ovarian insufficiency in patients with galactosemia","authors":"I. Karachentsova, E. Sibirskaya, Adelina A. Khairullina","doi":"10.15690/pf.v21i2.2721","DOIUrl":"https://doi.org/10.15690/pf.v21i2.2721","url":null,"abstract":"Background. Galactosemia is a congenital disorder of carbohydrate metabolism caused by a defect in any of the enzymes of galactose metabolism. One of the long-term complications is premature ovarian insufficiency (POI), which is more common in patients with the c.563A>G (Q188R) mutation in the homozygous state in the galactose-1-phosphate uridylyltransferase (GALT) gene. At the same time, fertility factors may be higher in patients with POI caused by classical galactosemia (CG) compared with other causes of POI, which makes it difficult to resolve the issue of the need to use fertility preservation methods for this group of patients in the prepubescent period. Case report. This article describes two clinical observations of patients with CG who were diagnosed with hypergonadotropic hypogonadism. Patient A. was initiated hormone replacement therapy (HRT) at the age of 11, and according to the results of osteodensitometry, there is currently no decrease in bone mineral density. In patient C. at the age of 14, before the start of HRT, ovaries without pronounced follicular apparatus, osteopenia and osteoporosis were detected. The issue of the necessity and timing of the use of fertility preservation methods is being considered. Conclusion. Patients with CG are recommended to monitor hormonal profile indicators for timely administration of HRT. Cryopreservation of ovarian tissue should be considered as one of the options for maintaining fertility in patients with CG, taking into account that some of them still have the possibility of spontaneous pregnancy, despite the POI.","PeriodicalId":19997,"journal":{"name":"Pediatric pharmacology","volume":" 907","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140989304","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}

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Clinical Case of Rare Genetic Disorder (Proud Syndrome) in a Child 儿童罕见遗传病（骄傲综合征）临床病例

Pediatric pharmacology Pub Date : 2024-05-11 DOI: 10.15690/pf.v21i2.2745

Anastasiia N. Vertianova, Anna V. Monakhova, U. S. Suraeva, Olga M. Matiasova, Alla Yu. Shutkova, E. Tush, Elena E. Yacishina, Marina A. Suslova, O. Khaletskaya

{"title":"Clinical Case of Rare Genetic Disorder (Proud Syndrome) in a Child","authors":"Anastasiia N. Vertianova, Anna V. Monakhova, U. S. Suraeva, Olga M. Matiasova, Alla Yu. Shutkova, E. Tush, Elena E. Yacishina, Marina A. Suslova, O. Khaletskaya","doi":"10.15690/pf.v21i2.2745","DOIUrl":"https://doi.org/10.15690/pf.v21i2.2745","url":null,"abstract":"Background. Proud syndrome is rare inherited disease with X-linked inheritance associated with mutations in the homeobox gene ARX. Typical clinical signs of this syndrome are severe mental retardation, intractable epilepsy, agenesis (dysgenesis) of corpus callosum. Less common features are genital abnormalities, microcephaly, facial dysmorphia, and skeletal malformations. Clinical case description. The article describes the clinical findings of Proud syndrome in girl A., admitted to Children’s City Clinical Hospital No. 1 in Nizhny Novgorod. The girl was born without asphyxia at term through natural vaginal delivery after the first uneventful pregnancy. Body weight at birth was 2600 g. The genealogical history is burdened by the presence of epilepsy in girl’s father relatives. There were no deviations in psychomotor skills development before disease onset. Hemi-convulsive seizures (switching sides) have appeared at the age of 6 months. These attacks had status course and were resistant to anticonvulsant therapy. Neuroimaging has revealed agenesis of corpus callosum. Regression of psychomotor development, new behavioral disorders (stereotypes and auto-aggression), hyperexcitability, and sleep disorders were observed in dynamics. The diagnosis of Proud syndrome was confirmed by identification of probably pathogenic mutation in the ARX gene (c.1111C>T, p. Arg 371*64). The features of anticonvulsant management were demonstrated in the patient. Conclusion. This clinical case presents typical clinical picture of Proud syndrome. The disease is non-curable. Such patients should be administered with syndromic therapy: constant anticonvulsant therapy, correction of behavioral disorders (classes with specialist on mental defects), neurologist, epileptologist, psychiatrist observations. Parental examination is crucial ARX mutation search in order to determine the prognosis for further child-bearing (parents refused to perform genetic study at the time of article writing).","PeriodicalId":19997,"journal":{"name":"Pediatric pharmacology","volume":" 23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140988150","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