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

{"title":"Endocrine disorders in chronic kidney disease","authors":"Joanna Sobolewska, Zuzanna Żak, Kamila Monia-Tutur, Agnieszka Wojciechowska-Luźniak, P. Witek, S. Niemczyk","doi":"10.15557/pimr.2022.0031","DOIUrl":"https://doi.org/10.15557/pimr.2022.0031","url":null,"abstract":"The increasing prevalence of chronic kidney disease gives rise to many diagnostic challenges in the daily care of this group of patients. This paper presents the most clinically significant endocrine disorders accompanying chronic kidney disease, their aetiology, diagnosis, clinical picture and treatment. Endocrine disorders may occur in patients with chronic kidney disease with greater or equal frequency as in the general population. The most important endocrine disorders include: low triiodothyronine syndrome, subclinical and overt hypothyroidism, hypercortisolaemia, hyperprolactinaemia, increased levels of growth hormone, hyperinsulinaemia, insulin resistance and hypogonadism. Hyperthyroidism and autoimmune thyroid disease occur with the same frequency in patients with chronic kidney disease as in the general population. Chronic kidney disease also affects commonly used hormone determinations. The choice of the therapeutic method in patients with chronic kidney disease is not without importance for endocrine disorders. Among patients undergoing dialysis therapy, a temporary increase in free thyroid hormones, a decrease in the severity of hypercortisolaemia and a decrease in hormone levels were observed. Dialysis therapy does not normalise prolactin levels, unlike kidney transplantation, where an improvement in glomerular filtration rate results in the normalisation of serum prolactin. The therapeutic management of some of the presented endocrine disorders is not based on a causal effect, but mainly on controlling their complications (e.g. secondary to hypercortisolaemia – hypertension, diabetes, osteopenia or abdominal obesity). In the remaining cases, hormone replacement therapy was associated with a beneficial effect for the patient: testosterone replacement in obese men with hypogonadism led to a decrease in body mass index, and cyclical transdermal hormone replacement therapy in women with oestrogen deficiency secondary to renal failure inhibited bone demineralisation and thus prevented early osteoporosis.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44658881","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":"Duchenne muscular dystrophy diagnosed in infancy – a case report","authors":"Martyna Śliwińska, Anna Rakuś-Kwiatosz, K. Wojciechowska","doi":"10.15557/pimr.2022.0044","DOIUrl":"https://doi.org/10.15557/pimr.2022.0044","url":null,"abstract":"Duchenne muscular dystrophy is the most common inherited neuromuscular disorder. The onset of myopathic symptoms is observed at an average age of 2.5 years. However, the definitive diagnosis is not reached until between 3 and 5 years of age, indicating a delay in relation to the onset of first symptoms. The diagnosis is confirmed with genetic testing. This paper presents a case of a 6.5-month-old boy with reduced motor activity already in the foetal period, hypertransaminasaemia, constipation and reduced muscle tone. Extensive differential diagnosis of these abnormalities, including genetic testing, confirmed Duchenne muscular dystrophy. Detection of this disease at an early, poorly symptomatic stage offers a chance to achieve better treatment outcomes and improve the patient’s quality of life. Modern gene therapies implemented before irreversible changes are induced by the disease may in the future give the patient a chance to be completely cured. In the presented case, the symptoms of myopathy were present already in foetal life, and the diagnosis was reached at a younger age than the typical age reported in most of the available literature data.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46242741","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":"A giant heart tumour diagnosed accidentally in a 6-year-old boy with wide QRS complex tachycardia","authors":"A. Szydłowski, J. Kusa, K. Gruszczyńska, A. Skierska, E. Moric-Janiszewska, Z. Olczak, A. Szydłowska","doi":"10.15557/pimr.2022.0040","DOIUrl":"https://doi.org/10.15557/pimr.2022.0040","url":null,"abstract":"The paper presents a case report of a 6-year-old boy with broad QRS tachycardia, who was accidentally diagnosed with a cardiac tumour. The tachycardia occurred twice, 10 months apart, and was quickly interrupted in a night medical care unit by performing a carotid sinus massage. Electrocardiography was performed, but its low quality did not allow for a detailed analysis, except for the heart rate, which was 180 bpm. Cardiological diagnosis was performed in a reference centre. No laboratory abnormalities were found. Holter ECG recorded only 374 single ventricular beats, while a routine echo revealed a very large 4.2 × 3.1 cm tumour in the interventricular septum, which did not impede intracardiac blood flow. The presence of the tumour was confirmed by magnetic resonance imaging of the heart, in which a fibroma was suspected. A beta-blocker (metoprolol) was included in the treatment and further cardiac monitoring was recommended. The boy was discharged home with a recommended follow-up in 2 months. He did not report for the appointment, while his parents requested for full imaging documentation.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47884413","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":"Activity of the inflammatory process depending on sputum markers in children with different onset of bronchial asthma","authors":"O. Koloskova, T. Bilous, L. Іvanova, O. Korotun, Mariana Dikal, V. Bilous","doi":"10.15557/pimr.2022.0037","DOIUrl":"https://doi.org/10.15557/pimr.2022.0037","url":null,"abstract":"Aim of the study: To analyse the activity of the inflammatory process in the airways in children with bronchial asthma depending on the onset of the disease. Materials and methods: In compliance with the principles of bioethics, a comprehensive retrospective examination of 319 children suffering from bronchial asthma was performed. In 257 children (clinical group I), bronchial asthma developed on the background of chronic obstructive bronchitis. The second (II) clinical group included 43 children, in whom asthma occurred after community-acquired pneumonia. The third (III) clinical group consisted of 19 children in whom asthma was first verified after inpatient treatment for asthmatic status. Results: Based on the severity of bronchial asthma, it was found that the representatives of the clinical group III, compared with other patients, significantly more often had a severe course of the disease. For patients of the clinical group I, the onset was characterised by increased eosinophils and decreased neutrophil counts in sputum, for group II patients – increased eosinophils and epitheliocytes, but a decrease in lymphocytes, and in children of the clinical group III – low eosinophils in the sputum with a simultaneous increase in neutrophils. In particular, a statistically significant increase in the level of vascular endothelial growth factor, and a decrease in the content of cationic proteins, matrix metalloproteinase-9, and interleukins 6 and 13, in sputum indicates the predominance of neoangiogenesis in children of the clinical group III. Instead, in the clinical group II the remodelling processes were mainly caused by the inflammatory process with the release of intracellular eosinophilic cationic proteins. Conclusion: These data indicate the discrete nature of the type and severity of the inflammatory process of the respiratory tract over the dynamic follow-up period in children classified in different clinical comparison groups, which suggests the presence of certain phenotypic differences due to alternative onsets of the disease, which were determined by different triggers. Such deviations in the inflammatory process indicate that patients with asthma require a personalised approach to ensure differentiated diagnostic monitoring and targeted anti-inflammatory treatment, taking into account the peculiarities of the onset of the disease.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":"1 1","pages":""},"PeriodicalIF":3.6,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67597275","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":"Synchronous nasal mass: a wolf in sheep’s disguise","authors":"Shalini Ramasamy, J. Saniasiaya, Jennifer Lee Peak Hui, Zainal Azmi Zainal Abidin","doi":"10.15557/pimr.2022.0042","DOIUrl":"https://doi.org/10.15557/pimr.2022.0042","url":null,"abstract":"Aim: To highlight the possibility of synchronous benign and malignant nasal masses. Schneiderian papilloma, also known as inverted papilloma, despite being a common benign epithelial sinonasal tumour, remains a conundrum to otorhinolaryngologists due to its locally aggressive nature, tendency to recur as well as potential of malignant transformation. A synchronous nasal lesion adds on to the complexity of patient management. Case presentation: Herein, we are reporting an unusual case of synchronous lesions: sinonasal inverted papilloma and low-grade mucoepidermoid carcinoma. Initial biopsy of the sinonasal mass revealed inverted papilloma. However, histopathological examination post endoscopic medial maxillectomy revealed evidence of both inverted papilloma and low-grade mucoepidermoid carcinoma. Conclusion: We want to highlight that seemingly benign sinonasal inverted papillomas ought to be taken seriously considering the possibility of a synchronous malignant nasal mass, as in our case.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44458758","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":"An unexpected result of a routine cardiac consultation in a patient with nephrological problems","authors":"A. Szydłowska, J. Kusa, K. Gruszczyńska, A. Skierska, E. Moric-Janiszewska, Z. Olczak, A. Szydłowski","doi":"10.15557/pimr.2022.0039","DOIUrl":"https://doi.org/10.15557/pimr.2022.0039","url":null,"abstract":"A 17.5-year-old boy, previously treated in a nephrology clinic due to chronic proteinuria, was referred for a routine cardiology consultation before being transferred to an adult clinic for further care. Physical examination and echocardiography showed no circulatory abnormalities and normal blood pressure, while echocardiography revealed an abnormal tumour-like structure measuring 1.3 × 1.5 cm in the left atrium, remaining in contact with the interatrial septum. Continuous infusion of heparin was started, after which no change in tumour size was obtained. The diagnosis was extended to include computed tomography, which showed a soft 1.5 × 2.1 × 2.1 cm tissue structure connecting with the interatrial septum with uneven contours, and magnetic resonance imaging, which indicated that the left atrial structure corresponded to myxoma, and the presence of enhancement spoke against the suspicion of a thrombus, although the presence of a small thrombus on the tumour could not be clearly excluded. The boy was qualified for a cardiac surgery, during which the pathological structure was removed and then sent for histopathological analysis, which revealed a heart tumour with myxoma. After the surgery, the patient was transferred to the department of paediatric cardiology for further treatment, where he received enoxaparin sodium, antibiotics and acetylsalicylic acid. After a few days, an about 1 cm layer of fluid appeared in the pericardium, which regressed after the incorporation of ibuprofen and dehydrating agents. After 2 weeks, the boy was discharged home in good condition, with a recommendation to continue care at a nephrology, cardiology and genetic clinic due to MTHFR mutation, which may be associated with hereditary hypercoagulability, detected during hospital stay.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44520311","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":"What has changed over 10 years in neonatal therapeutic hypothermia? Part 2: Practical advice based on literature review and the authors’ own experiences","authors":"Ewa Syweńki, Kinga Niewińska, Bożena Głowska","doi":"10.15557/pimr.2022.0034","DOIUrl":"https://doi.org/10.15557/pimr.2022.0034","url":null,"abstract":"Mild therapeutic hypothermia, understood as controlled cooling of the body or its part (the head) below the physiological temperature, i.e. 36°C, in accordance with appropriate therapeutic protocols, was approved in 2006 by the US Food and Drug Administration as an experimental method in preventing long-term complications of hypoxia in term and near-term newborns, i.e. those born at ≥35+0 weeks of gestational age. In newborns, unlike in adults, the aim of this method is neuroprotection of the central nervous system. Reports indicating the beneficial effect of cold in reviving a “weak” newborn have been known for a long time. However, both the positive effects of controlled cooling in reducing the percentage of severe neurological complications associated with deep perinatal hypoxia and its safety were not properly confirmed until the turn of the 20th and 21st centuries, with extensive experimental data from animal studies and a number of clinical protocols (TOBY, ICE, NICHD, Cool-Cap). Hypothermia was officially included in the canon of therapeutic methods in neonatology by the American Academy of Pediatrics in 2009, and in 2013, it became a hospital service guaranteed and financed by the National Health Fund in Poland. In 2015, mild therapeutic hypothermia became the worldwide recommended treatment method for infants born with severe asphyxia, at risk of developing symptoms of hypoxic-ischaemic encephalopathy to at least a moderate degree according to the Sarnat grading scale. In this paper, the authors share their own experiences related to the use of therapeutic hypothermia in patients under 18 years of age and indicate the most important aspects of its evolution over the last decade based on data from the literature.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45237390","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":"What has changed over 10 years in neonatal therapeutic hypothermia? Part 1: Hypothermia in paediatric brain injury – a literature review","authors":"Ewa Syweńki, Kinga Niewińska","doi":"10.15557/pimr.2022.0033","DOIUrl":"https://doi.org/10.15557/pimr.2022.0033","url":null,"abstract":"It is estimated that brain injury, broadly understood, is the most common cause of death and severe neurological complications in the paediatric population under 18 years of age. A number of preclinical studies have demonstrated the effectiveness of moderate cooling in terms of neuroprotection. In paediatrics, mild therapeutic hypothermia is a well-established procedure in the treatment of term or near-term newborns with deep asphyxia. Since 2015, in accordance with the guidelines of the American Academy of Pediatrics, mild therapeutic hypothermia is no longer an experimental method and it is widely recognised as a factor that improves survival and long-term neurological prognosis compared to traditional treatments. Thus, it is not surprising that, based on strong preclinical data from animal studies and the acceptance of mild therapeutic hypothermia in neonatology, opportunities to extend the range of patients benefiting from it beyond neonates in the first 6 hours of life as well as its new applications beyond the neonatal period are still being sought. In adults who underwent successful resuscitation due to sudden cardiac arrest in shockable rhythms, therapeutic cooling was recommended as a treatment method in post-resuscitation management almost a decade earlier than in newborns; however, a simple extrapolation of data from the adult population to the neonate population or from adults to neonates did not prove effective. The variation in terms of mechanisms leading to cardiac arrest (i.e. respiratory cause in children vs. cardiac cause in adults) entails differences in neurohormonal modulation between these two groups, which affects the results. This paper presents aspects of the use of mild therapeutic hypothermia over the last decade and discusses the mechanisms of encephalopathy development in the paediatric population, the conditions for its effective application as well as its place in the treatment of brain injury unrelated to perinatal asphyxia.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48999672","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":"Non-alcoholic fatty liver disease in children and adolescents: a meta-analysis","authors":"O. Horlenko, O. Pushkarenko","doi":"10.15557/pimr.2022.0032","DOIUrl":"https://doi.org/10.15557/pimr.2022.0032","url":null,"abstract":"Aim: Non-alcoholic fatty liver disease is the most common chronic liver disease in children and adolescents. It is associated with various risk factors including obesity, metabolic syndrome, sedentary lifestyle, etc. The present study was aimed to give an overview of the latest data on the prevalence and treatment options for non-alcoholic fatty liver disease in children and adolescents. Materials and methods: For the purpose of this meta-analysis, we conducted a comprehensive systematic literature review including a PubMed database search for related studies until September 2021. A thorough selection process was then adopted to select eligible studies for further analysis. Results: The selected prevalence studies in this meta-analysis included 27,241 children and adolescents, with a pooled mean prevalence of 22.64%. There was a marked heterogeneity (I2 = 43%) and a significant difference (p < 0.00001) in the prevalence of non-alcoholic fatty liver disease among children and adolescents across the studies. The results also showed a greater prevalence of non-alcoholic fatty liver disease in adolescents as compared to children. The most widely used method for the estimation of prevalence among selected studies was alanine transaminase levels. However, various treatment strategies were adopted in different studies for non-alcoholic fatty liver disease in children/adolescents, and changes in body mass index and aminotransferase levels (alanine transaminase/aspartate transaminase) were used as outcome measures after treatment. Overall, there was a non-significant difference in body mass index values (p = 0.02) among the selected studies. However, the combined effect of alanine transaminase by using a random model was 13.52 (7.28, 19.76), and a significant difference in pooled alanine transaminase values (p < 0.00001) was observed after treatment. Conclusion: There is a high prevalence of non-alcoholic fatty liver disease among children and adolescents. However, lifestyle interventions and other treatment methods have a significant impact on reducing the occurrence of the disease in children and adolescents.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43702374","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":"A case of unexpected cheek swelling","authors":"Nur Syareena Musa, J. Saniasiaya, N. Abdul Gani","doi":"10.15557/pimr.2022.0029","DOIUrl":"https://doi.org/10.15557/pimr.2022.0029","url":null,"abstract":"Aim of the study: The aim of this case presentation is to emphasise the importance of meticulous history-taking and physical examination, and increase the awareness of various possibilities for the diagnosis and management of patients with unilateral cheek swelling. Maxillary mucocele is a rare benign cystic lesion of paranasal sinuses. It may be associated with varying symptoms, and patients commonly present with compression symptoms during their first visit, as the maxillary sinus is adjacent to vital structures, notably the orbit and skull base. Case report: Herein, we present the case of a middle-aged man who presented with painless unilateral cheek swelling that turned out to be maxillary mucocele. Conclusions: Presentation of maxillary mucocele often mimics cancerous lesion types. Thorough assessment and proper imaging help to guide otorhinolaryngologists towards making an accurate diagnosis and initiating prompt management.","PeriodicalId":42380,"journal":{"name":"Pediatria i Medycyna Rodzinna-Paediatrics and Family Medicine","volume":" ","pages":""},"PeriodicalIF":3.6,"publicationDate":"2022-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42192816","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}