Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine最新文献

{"title":"Prolactinoma and cardiovascular diseases – an interdisciplinary problem","authors":"A. Jurek, P. Krzesiński, G. Gielerak, B. Uziębło-Życzkowska, P. Witek, G. Zieliński, A. Kazimierczak, R. Wierzbowski","doi":"10.15557/pimr.2021.0046","DOIUrl":"https://doi.org/10.15557/pimr.2021.0046","url":null,"abstract":"Prolactin-secreting pituitary tumour is a rare disease, in which excess prolactin causes significant functional and constitutional disorders of the whole body. Hyperprolactinaemia is associated with changes in body composition and metabolic disorders. The long-term prognosis and quality of life in patients with prolactinoma are mainly influenced by cardiovascular disorders, which, if left untreated, increase the cardiovascular risk and limit the treatment options for secondary organ complications. Cardiovascular mortality in patients with prolactinoma is several times higher than in the general population. Early diagnosis of prolactin-releasing pituitary tumour and a thorough morphological and functional cardiovascular assessment at each stage of the disease are necessary for risk stratification. Patients with prolactinoma should be put on combined treatment based on both serum prolactin control, and reduction of cardiovascular risk factors. Normalisation of prolactin levels and reduction of the tumour mass, achieved mainly through effective pharmacotherapy, reduce mortality and the risk of cardiovascular complications; therefore, the earliest possible diagnosis of prolactin pituitary tumour and implementation of appropriate treatment as well as active diagnosis and therapy of coexisting organ complications should be set as a goal in these patients. It seems that a thorough cardiological assessment of patients with prolactinoma should be obligatory, regardless of their age or the time of diagnosis. The aim of this study was to present the complexity of clinical problems in patients with prolactin secreting pituitary tumours, who require special interdisciplinary care.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42886028","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":"Efficacy of TNF-α inhibitors in the treatment of ankylosing spondylitis","authors":"Sylwia Elert-Kopeć, M. Tłustochowicz, A. Bachta, Piotr Geisler, W. Tłustochowicz","doi":"10.15557/pimr.2021.0051","DOIUrl":"https://doi.org/10.15557/pimr.2021.0051","url":null,"abstract":"Purpose: The study aimed to evaluate and compare the efficacy of TNF-α inhibitors in the treatment of ankylosing spondylitis in everyday medical practice. Materials and methods: We analysed the data of 106 patients with ankylosing spondylitis treated in 2012–2019 with TNF-α inhibitors (etanercept, adalimumab or golimumab) under the drug program of the National Health Fund. The observation period for each patient was 18 months. The disease activity was assessed at 3-month intervals on the basis of BASDAI (Bath Ankylosing Spondylitis Disease Activity Index) and ASDAS (Ankylosing Spondylitis Disease Activity Score). Results: The study covered 80 men and 26 women. The mean age of the patients was 37 years. The group receiving etanercept included 50 patients, adalimumab – 39 patients, and golimumab – 17 patients. Due to coexisting offaxial symptoms such as uveitis (n = 20/106) and peripheral arthritis (n = 39/106), some patients were simultaneously receiving classic disease-modifying antirheumatic drugs, i.e. methotrexate (n = 32/106), sulfasalazine (n = 8/106), cyclosporine (n = 5/106), and glucocorticosteroids (n = 14/106). All subgroups showed a significant clinical improvement in the form of a decrease in inflammatory markers and a decrease in disease activity after 3 months of treatment, increasing up to the 6th month. The biological drug was discontinued due to remission (according to BASDAI) in 20/48 patients taking etanercept and in 19/36 patients receiving adalimumab. The observation period following drug discontinuation for both groups was similar and lasted about 7 months. The remission time (according to BASDAI) without treatment was short; 3.55 ± 2.28 months for etanercept vs. 5.21 ± 2.53 months for adalimumab (p = 0.038). Conclusions: The inclusion of TNF-α inhibitors in patients with an unsatisfactory response to treatment with non-steroidal anti-inflammatory drugs resulted in a major reduction of disease activity. There was no statistically significant difference in treatment efficacy between individual TNF-α inhibitors, i.e. etanercept, adalimumab, and golimumab. The group treated with adalimumab was found with a trend towards longer-lasting remission after drug discontinuation, but it was short-lived and a return to treatment was necessary.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44591853","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":"Insulin resistance in children and adolescents – aetiology, complications and diagnostic methods","authors":"M. Krawczyk, M. Rumińska, Aneta Czerwonogrodzka-Senczyna, B. Pyrżak","doi":"10.15557/pimr.2021.0048","DOIUrl":"https://doi.org/10.15557/pimr.2021.0048","url":null,"abstract":"Obesity is a serious health problem responsible for lipid and carbohydrate metabolism disorders, metabolic syndrome, hypertension, fatty liver and endocrine disorders, which are increasingly common in the paediatric population. Insulin resistance is the underlying cause of these complications. It is described as a state of reduced target tissue sensitivity to insulin despite its normal or increased serum levels. The hyperinsulinaemic-euglycemic clamp is the “gold standard” in the diagnosis of insulin resistance, but since it is time-consuming, costly and technically challenging, the method is used only in scientific research. There are several simple, indirect indicators to assess insulin resistance, which are estimated from fasting glucose and insulin values or from the data obtained in the oral glucose tolerance test, with homeostasis model assessment of insulin resistance (HOMA-IR) being the most popular tool. Despite many clinical trials, there are still no clear standards for the diagnosis and treatment of insulin resistance in children and adolescents. The management is based on the principles of a healthy lifestyle. A properly balanced diet, increased physical activity and weight loss contribute to improved insulin sensitivity. Health education, as well as prevention and treatment of childhood obesity seem to be crucial for preventing insulin resistance and related complications.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47942888","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":"Pfeiffer syndrome – a case report","authors":"Fedir Yurochko, Dzvenyslava Kopanska, Oleksandra Bonetska, M. Bihun","doi":"10.15557/pimr.2021.0058","DOIUrl":"https://doi.org/10.15557/pimr.2021.0058","url":null,"abstract":"Pfeiffer syndrome is a severe autosomal dominant condition that affects many systems of the human body. It is caused by mutations in the fibroblast growth factor receptors of the fibroblast growth factor genes. The phenotype of patients with Pfeiffer syndrome includes multiple limb and cranial abnormalities, and mental retardation. The infant reported here also had cloverleaf-shaped skull, broad thumbs and big toes, bilateral syndactyly, and hypertelorism. The patient was hospitalised in the Lviv Regional Clinical Hospital with multiple congenital malformations and severe neurological status. Acrocephaly, cloverleaf-shaped skull and severe concomitant neurological complications suggested Pfeiffer syndrome, which was later confirmed.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46146874","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":"Fatigue, sleepiness, perceived stress and physical activity in postpartum mothers according to the infants’ feeding method. A pilot study","authors":"Jolanta Nurek, B. Buraczyńska-Andrzejewska, Iga Kolasa, Bartłomiej J. Czyżniewski, M. Gibas-Dorna","doi":"10.15557/pimr.2021.0054","DOIUrl":"https://doi.org/10.15557/pimr.2021.0054","url":null,"abstract":"Aim of the study: Early motherhood is the time when the female body must cope with sleep deprivation, fatigue, and stress associated with increased responsibilities following the birth of the baby. The aim of this paper was to investigate the psychological wellbeing and physical activity of healthy mothers in the first months postpartum according to the infants’ feeding method. Materials and methods: 24 healthy exclusively breastfeeding and 13 healthy exclusively formula-feeding mothers participated in this study. The results were based on the standardised scales: Fatigue Severity Scale (FSS), Epworth Sleepiness Scale (ESS), Perceived Stress Scale (PSS), and Kaiser Physical Activity Survey (KPAS). Results: When comparing data between the two studied groups, we found that breastfeeding women reported lower levels of sleepiness (p = 0.011) and fatigue (p = 0.0006) than formula-feeding mothers. Perceived stress and physical activity did not differ between the groups. Positive correlation between PSS and FSS was found (r = 0.62, p < 0.005) in the group of breastfeeding mothers. Conclusions: 1) In breastfeeding mothers, fatigue and perceived stress reinforce each other. This relationship serves as an alarm signal to provide nursing mothers with optimal care in order to prevent them from stopping breastfeeding. 2) In a healthy population of mothers from 3 to 6 months postpartum, exclusively breastfeeding women are observed to have lower fatigue and sleepiness levels compared to those who decided to feed their children with formula only. These conclusions may be an additional source of information for the promotion of breastfeeding.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43794764","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":"Gene therapy in the treatment of aromatic L -amino acid decarboxylase deficiency","authors":"Agnieszka Kwiatkowska, Magdalena Staniec, Agata Rocka, Dominika Psiuk, E. Nowak, A. Filip","doi":"10.15557/pimr.2021.0050","DOIUrl":"https://doi.org/10.15557/pimr.2021.0050","url":null,"abstract":"Aromatic L-amino acid decarboxylase deficiency is an autosomal recessive neurodevelopmental disorder caused by pathogenic variants of the DDC gene. The disease manifests already in newborns and infants. The presentation includes neurological symptoms, a significant delay in motor development and oculogyric crisis. Currently, gene therapy is successfully used in the treatment of aromatic L-amino acid decarboxylase deficiency. Until recently, no effective treatment for the disorder was known. The affected children died in the first decades of life. Gene therapy is a new and promising therapeutic strategy. The first genetic therapies for aromatic L-amino acid decarboxylase deficiency were implemented in the United States. The treated children recovered very quickly, began to sit up, stand, and even attempted to walk. For the first time in Europe, this method was used in 2019 in Poland, at the Interventional NeuroTherapy Centre at Bródno Hospital in Warsaw, with the involvement of a team of specialists under the leadership of Professor Mirosław Ząbek and Professor Krzysztof Bankiewicz. The therapy involves a real-time magnetic resonance imaging-guided introduction of a copy of the defective gene directly into the substantia nigra and the ventral tegmental area. Spectacular changes were observed in the first Polish patients treated with this innovative method. The children began to raise their heads soon after the procedure. Early accurate diagnosis and prompt implementation of appropriate treatment can minimise the consequences of deficient neurotransmitters in paediatric patients. This can be achieved with gene therapy, which is a chance for children affected by this rare disease.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46115664","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":"Use of R-WUK pressure suits in the therapy of patients with autism and Asperger syndrome: a preliminary report","authors":"Maciej Abakumow, O. Truszczyński, Krzysztof Kowalczuk, Przemysław Jaśkiewicz, Agnieszka Lipińska-Opałko","doi":"10.15557/pimr.2021.005","DOIUrl":"https://doi.org/10.15557/pimr.2021.005","url":null,"abstract":"Pressure suits are used primarily to protect a pilot against increased G-forces and adverse effects of atmospheric pressure at high altitudes. However, pressure suits can also potentially be used for kinesitherapy in patients with orthopaedic, neurological and cognitive deficits, including in those with Asperger syndrome or autism. For this reason, pressure suits have been adapted for therapeutic purposes (rehabilitation). These suits have been named R-WUK. Results obtained in a pilot group show additional possibilities for the application of R-WUK suits in autism therapy and provide a ifferent perspective on the problem of autism spectrum disorder therapy. The innovativeness of this approach is based on the fact that it does not involve any psychological, educational or pharmacological therapies; instead, it employs kinesitherapy with a system that primarily creates physical effects: the suit exerts pressure on the patient’s tissues using pneumatic mechanisms. The present approach also involves the use of physiotherapy methods such as PNF, NDT/Bobath and Stand&Go. As a result of the study intervention, significant changes were observed in the patients’ functioning and behaviour. The changes were so significant that it can be concluded that patients who have undergone R-WUK suit therapy function as neurotypical individuals. A low number of subjects in the study group does not allow one to make a definitive determination that all individuals with autism or Asperger syndrome will undergo similar changes in functioning as a result of the suit therapy.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45415353","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":"Features of clinical manifestation and treatment of inpatient COVID-19 cases in children","authors":"L. Romanchuk, O. Koloskova, T. Bilous, O. Korotun","doi":"10.15557/pimr.2021.0053","DOIUrl":"https://doi.org/10.15557/pimr.2021.0053","url":null,"abstract":"Since the beginning of the COVID-19 pandemic, many researchers have considered paediatric patients to be less vulnerable to the virus. Our study is devoted to the analysis of the dynamics of morbidity, clinical course, and treatment of children hospitalised with coronavirus disease. Aim of the study: The aim of the study was to conduct a retrospective analysis of cases of coronavirus infection in children during the 1st year of the COVID-19 pandemic. Materials and methods: Two hundred and sixty-three clinical cases of COVID-19 in hospitalised children of Chernivtsi region (Ukraine) for the period from March 2020 to March 2021 were analysed. The peculiarities of the clinical course, symptoms, and treatment of children in the early and later periods of the pandemic were assessed. Results: It was found that the most common complaint was general weakness due to infectious-inflammatory, intoxication, and catarrhal syndromes. At the same time, over the course of the pandemic, the complaints and signs of intoxication and asthenic syndromes, infectious-inflammatory syndromes, and nonspecific neurological symptoms increased, while the rate of respiratory tract damage remained relatively stable, and in the 1st quarter of 2021, there was a significant increase in multisystem inflammatory syndrome and community-acquired pneumonia (odds ratio, OR = 2.7). Conclusions: The clinical course of COVID-19 in children showed phenotypic deviations during the 1st year of the pandemic, with a tendency for an increased incidence of severe forms of the disease, resistant to the prescribed treatment.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48759436","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":"Anti-N-methyl-D-aspartate receptor encephalitis in a 17-year-old girl – a case report","authors":"Cezary Witczak, P. Kemnitz, I. Pieczonka-Ruszkowska, A. Mania, Katarzyna Mazur-Melewska, M. Figlerowicz","doi":"10.15557/pimr.2021.0055","DOIUrl":"https://doi.org/10.15557/pimr.2021.0055","url":null,"abstract":"Autoimmune encephalitis is rare in children and develops as a manifestation of a parainfectious or paraneoplastic syndrome. The disease is characterised by a sudden or subacute onset and a broad spectrum of neurological and/or psychiatric disorders. We present a case of a 17-year-old girl with anti-N-methyl-D-aspartate receptor encephalitis. The patient was admitted to hospital in a severe condition, unconscious, with injuries indicating a recent status epilepticus. Previous infection was found to be the most likely causative factor. Antiviral, antibacterial, immunosuppressive and anticonvulsant treatments were used with good outcomes. The aim of the paper is to point out the need to include autoimmune processes in the differential diagnosis of neuroinfections in children, which will allow for prompt implementation of appropriate treatment and improve prognosis.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48603683","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":"Supra-auricular presentation of a first branchial cleft anomaly","authors":"R. Wilfred, L. Yun, H. Hazmi, S. S. Moses","doi":"10.15557/pimr.2021.0059","DOIUrl":"https://doi.org/10.15557/pimr.2021.0059","url":null,"abstract":"Branchial anomalies are congenital lesions that occur as a result of incomplete obliteration of the branchial apparatus during foetal development. Due to their complex presentations, they are commonly misdiagnosed and pose a challenge in treatment. This report features a girl, aged 1 year and 2 months, with Goldenhar syndrome with right microtia, presenting with a rare supra-auricular fistulous opening to the external auditory canal, with a communicating tract in the neck.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2021-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43963980","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}