Medycyna wieku rozwojowego最新文献

{"title":"The role of hepcidin in regulating iron homeostasis in selected diseases.","authors":"A. Radosz, A. Obuchowicz","doi":"10.34763/devperiodmed.20192302.137141","DOIUrl":"https://doi.org/10.34763/devperiodmed.20192302.137141","url":null,"abstract":"Iron is an element whose content in the human organism remains under strict control not only due to its involvement in many life processes but also because of its potential toxicity. The latest studies in iron metabolism, especially the involvement of hepcidin, which is the main regulator of iron homeostasis, broadened our knowledge in many medico/ fields (immunology, nephrology, hematology, gastrology). The present paper is a review of the literature devoted to the importance of hepcidin under selected conditions.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69887210","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":"Long-term trends in the prevalence of congenital heart defects in patients with down syndrome in southern Poland.","authors":"Artur Dobosz, M. Bik-Multanowski","doi":"10.34763/devperiodmed.20192303.184189","DOIUrl":"https://doi.org/10.34763/devperiodmed.20192303.184189","url":null,"abstract":"INTRODUCTION\u0000Down syndrome is one of the most common chromosomal abnormalities in humans. Patients have typical dysmorphic features and various congenital malformations. Congenital heart defects were reported as the most common of the latter, occurring in approximately 50% of the cases.\u0000\u0000\u0000THE AIM\u0000We aimed to analyse the long-term trends in the prevalence of Down syndrome and related heart defects in the population of southern Poland (Krakow region).\u0000\u0000\u0000MATERIAL AND METHODS\u0000We analysed 500 consecutive patients with Down syndrome who were born from 2006 through 2017 and were diagnosed at the Department of Medical Genetics, Jagiellonian University. Next, we compared our results with the data obtained in previous regional studies.\u0000\u0000\u0000RESULTS\u0000The prevalence of Down syndrome in the assessed period was 1.65 per 1,000 live births and was similar to the historical prevalence in our region. Cardiac malformations were detected in 57.6% of the patients and the common atrioventricular canal (CAVC) was the most frequent anomaly (35.1%). However, detailed analysis of the frequency of severe heart defects that usually require prompt surgical treatment in the course of infancy revealed that the percentage of CAVC has been significantly lower in recent years (p=0.033).\u0000\u0000\u0000CONCLUSIONS\u0000The prevalence of Down syndrome and the overall frequency of congenital heart defects have not significantly changed in recent years. However, the frequency of CAVC has decreased, which could be related to the technical progress in prenatal detection of this severe anomaly, and to the subsequent elective terminations of affected pregnancies. Further population studies are required to confirm the presence of this trend and elucidate its background.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69887375","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":"Who and how should prescribe and conduct exercise programs for pregnant women? recommendations based on the European educational standards for pregnancy and postnatal exercise specialists.","authors":"A. Szumilewicz","doi":"10.34763/devperiodmed.20182202.107112","DOIUrl":"https://doi.org/10.34763/devperiodmed.20182202.107112","url":null,"abstract":"Extensive scientific evidence has shown that prenatal physical activity is a prerequisite for the proper course of pregnancy, fetal development, labour and delivery, and the postpartum period. In 2015, the American College of Obstetricians and Gynecologists published a breakthrough statement that inactivity in pregnancy is risky behaviour. The aim of this paper is to provide answers to the questions concerning who and how should prescribe and conduct exercise programs for pregnant women.Close cooperation between the woman, her obstetric care provider and exercise specialists is necessary to promote exercise in pregnancy. Obstetricians should carefully evaluate women with medical or obstetric complications before starting the exercises. They should also provide women with general information about the benefits of prenatal exercise and the risks of physical inactivity. On the other hand, the design and implementation of the exercise program are tasks for exercise professionals, preferably ones qualified according to the European educational standards for Pregnancy and Postnatal Exercise Specialists.Both empirical observation and scientific research confirm the need to educate obstetric care providers, exercise professionals, and both pregnant women and their families about prenatal physical activity. They all require constantly updated information on how to use exercise to stimulate the positive development of pregnancy, ensure the greatest possible well-being for the future mother, and prepare her for childbirth and the postpartum period. These educational activities should be evidence-based. They must not perpetuate unfounded opinions, often harmful to the woman's health, on what she should or should not do while exercising during pregnancy. The presented update underlines some pertinent recommendations in this area.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69886045","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":"When do paediatric patients with familial hypercholesterolemia need statin therapy?","authors":"Matylda Hennig, A. Brandt, J. Bautembach-Minkowska, D. Świętoń, A. Mickiewicz, M. Chmara, B. Wasąg, E. Kamińska, A. Balcerska, J. Limon, A. Rynkiewicz, M. Gruchała, M. Myśliwiec","doi":"10.34763/devperiodmed.20172101.4350","DOIUrl":"https://doi.org/10.34763/devperiodmed.20172101.4350","url":null,"abstract":"INTRODUCTION\u0000Familial hypercholesterolemia (FH) is one of the most common autosomal dominant disorders. It is characterized by elevated LDL cholesterol levels occurring already by early childhood. Awareness of health risks in FH patients should incite health professionals to actively seek and treat children with lipid disorders to reduce their risk of myocardial infarction and stroke.\u0000\u0000\u0000OBJECTIVE\u0000The aim of the study was to evaluate the suitability of taking into account the following parameters: ApoB/ApoA index, IMT and e-tracking examination, when initiating statin therapy in FH patients.\u0000\u0000\u0000MATERIALS AND METHODS\u0000The study included 57 male and female patients aged 9.57±3.2 years (ranging from 1 year to 17 years), diagnosed with familial hypercholesterolemia confirmed by molecular testing. All the participants had their lipid profile, ApoA and ApoB levels determined. Carotid intima-media thickness (IMT) was measured by carotid ultrasound and arterial stiffness was assessed by e-tracking. The dietary treatment efficacy was monitored in 40 patients and the 12-month combination treatment efficacy in 27 patients. The study was conducted prospectively and retrospectively. Statistical analysis was performed with the EPIINFO Ver. 7.1.1.14 statistical software package.\u0000\u0000\u0000RESULTS\u0000Patients with familial hypercholesterolemia had high mean levels of total cholesterol and LDL cholesterol (287±67 mg/dL and 213±73 mg/dL respectively). 34.37% of the study subjects had a markedly increased ApoB/ApoA index. On IMT or e-tracking examination all the subjects (100%) had vascular abnormalities. After 6 months of a low-cholesterol diet, the mean total and LDL cholesterol levels in the serum had been reduced by 7.2% and 6.2%, respectively. Statins in an average dose of 10.42±2.49 mg daily were prescribed to 36 patients. After one year of the statin therapy, the average serum total and LDL cholesterol levels were 203.5±34.8 mg/dL and 139.1±32.1 mg/dL, respectively, and were still above the target values. Moreover, side effects of the statin therapy were monitored. An increase in AST levels seen in the study group was not statistically significant. The mean creatine kinase level was within the range of normal. Moreover, in our study material we estimated the risk of cardiovascular events in relation to the ApoB/ApoA index. Higher cardiovascular risk was found in 34.37% participants.\u0000\u0000\u0000CONCLUSIONS\u0000Increased risk of cardiovascular events based on ApoB/ApoA index and carotid e-tracking or IMT examination in paediatric patients with FH is an indication for statin therapy initiation.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69886158","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":"Fecal elastase-1 in healthy children up to 2 years of age: a cross-sectional study.","authors":"Mirosława Wieczorek-Filipiak, S. Drzymała-Czyż, M. Szczepanik, Anna Miśkiewicz-Chotnicka, Ewa Wenska-Chyży, J. Moczko, J. Walkowiak","doi":"10.34763/devperiodmed.20182202.123127","DOIUrl":"https://doi.org/10.34763/devperiodmed.20182202.123127","url":null,"abstract":"BACKGROUND\u0000Fecal elastase-1 (E-1) levels in infants and young children may be expected to differ from those in adults and older children because of the immaturity of the gastrointestinal tract and the specificity of their diet. Despite the availability of data describing E-1 levels in the stools of preterm infants, older children, adults and subjects with malabsorption, there is still a lack of data regarding E-1 in healthy infants and toddlers.The aim of this cross-sectional study was to evaluate fecal E-1 concentrations in infants and children from 1 up to 24 months of age.\u0000\u0000\u0000MATERIAL AND METHODS\u0000E-1 was measured in 160 healthy subjects aged 1-24 months (8 groups of 20: aged 1-3, 4-6 months, etc.) using an enzyme-linked immunosorbent assay (ELISA).\u0000\u0000\u0000RESULTS\u0000Fecal E-1 concentrations ranged from 200 to 1695 μg/g of feces. No child had a fecal E-1 level below 200 μg/g of feces. Fecal E-1 concentrations did not significantly differ between age groups. However, fecal E-1 levels in the first 3 months were lower than in the second year of life (1-3 months vs 13-24 months, p=0.0230). A statistically significant correlation between the E-1 concentration and age was found (p=0.0007, r=0.2639; however, it does not affect the cut-off level of the reference values). The trend was rather exponential. Fecal E-1 values reached a plateau around the age of 6-10 months.\u0000\u0000\u0000CONCLUSIONS\u0000Our study has shown that the fecal E-1 test can be reliably applied in infants and toddlers to confirm normal exocrine pancreatic function. However, within the first months of life fecal E-1 concentrations may be lower than later in life.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69886211","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 novel de novo 20q13.11q13.12 microdeletion in a boy with neurodevelopmental disorders - Case report.","authors":"J. Bernaciak, B. Wiśniowiecka-Kowalnik, Jennifer Castañeda, A. Kutkowska-Kaźmierczak, B. Nowakowska","doi":"10.34763/devperiodmed.20172102.9194","DOIUrl":"https://doi.org/10.34763/devperiodmed.20172102.9194","url":null,"abstract":"Copy-number variants (CNVs) are an important cause of human neurodevelopmental disorders. We present the first case of a 424 kb de novo 20q13.11q13.12 microdeletion in a patient with attention deficit disorder, tics and autistic behaviors, such as emotional and behavioral problems, and movement stereotypes. This region includes three genes expressed in the brain: SFRS6, PTPRT and L3MBTL. Our results suggest that loss of the chromosomal region 20q13.11q13.12 is causative for the clinical findings observed in the patient.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69886386","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":"Difficulties in the dietary management of a girl with two diseases requiring a special diet.","authors":"A. Kowalik, D. Gajewska, J. Sykut-Cegielska","doi":"10.34763/devperiodmed.20182203.225228","DOIUrl":"https://doi.org/10.34763/devperiodmed.20182203.225228","url":null,"abstract":"3-Methylcrotonylglycinuria (3-MCG) is an autosomal recessive inborn error of leucine metabolism caused by the deficiency of 3-methylocrotonyl-CoA carboxylase (3-MCC deficiency). It is the most commonly detected organic aciduria in newborn screening conducted by tandem mass spectrometry (MS/MS) [1, 2]. The clinical phenotype is heterogeneous, ranging from asymptomatic to acute metabolic decompensations [3, 4]. Although at least in severe cases and in acute life threatening episodes limiting natural protein intake (particularly leucine) together with high caloric intake during catabolic periods is required, the need for specific dietary management often seems questionable [2]. In contrast with the 3-MCC deficiency, in diabetes mellitus type 1 (DM1) a diet based on carbohydrate and protein-fat exchangers is beyond dispute. However, as DM1 is quite a common disease, it may occur in a single patient with a rare disease, such as 3-MCC deficiency.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69886521","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":"Impact of early glycemic variability on mortality and neurologic outcome of very low birth weight infants: Data from a continuous glucose monitoring system.","authors":"M. Jagła, Izabela Szymońska, Katarzyna Starzec, P. Kwinta","doi":"10.34763/devperiodmed.20192301.0714","DOIUrl":"https://doi.org/10.34763/devperiodmed.20192301.0714","url":null,"abstract":"BACKGROUND\u0000Glycemic variability (GV) has been a matter of interest in recent years. However, glycemic variability in preterm infants has not been adequately investigated.\u0000\u0000\u0000OBJECTIVES\u0000To evaluate the impact of glycemic variability obtained from continuous glucose monitoring on mortality and neurologie outcomes: grade 3 or 4 intraventricular hemorrhage (IVH), periventricular leukomalacia (PVL), and retinopathy of prematurity (ROP) requiring treatment among very low birth weight infants.\u0000\u0000\u0000MATERIAL AND METHODS\u0000A prospective, single-center, open cohort study enrolled 74 very low birth weight infants with a mean birthweight of 1066 g (+l-267). A continuous glucose monitoring system (CGM) was used to measure glucose during the first week of life. The impact of glycemic variability (standard deviation SD; coefficient of variation CV; and mean amplitude of glucose excursion MAGE) on mortality and neurologie outcomes of infants was evaluated.\u0000\u0000\u0000RESULTS\u0000Univariate analysis revea/ed that glycemic variability occurring during the first week of life was not be associated with mortality before term-equivalent age and PVL. Higher GV was associated with grade 3 or 4 IVH (CV p=0.025; MAGE p=0.032) and ROP requiring treatment (SD p=0.019; CV p=0.026; MAGE=0.029). However, logistic regression models did not show a significant association between GV occurring during the first week of life and grade 3 or 4 IVH (MAGE OR 2.64; 95% Cl 0.71-9.92) or ROP requiring treatment (MAGE OR 1.14; 95% Cl 0.57-5.32).\u0000\u0000\u0000CONCLUSIONS\u0000Further prospective studies are needed to fully investigate the impact of GV on mortality and morbidity in premature infants. The potential benefits of reducing glucose blood fluctuations in VLBW infants need to be addressed.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69886659","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":"Delayed presentation of jejunal atresia.","authors":"Charu Sharma, H. Shah, Mukta Waghmare, J. Desale, Pankaj Dwivedi","doi":"10.34763/devperiodmed.20172102.9597","DOIUrl":"https://doi.org/10.34763/devperiodmed.20172102.9597","url":null,"abstract":"Type I intestinal atresias (webs) are rare causes of gastrointestinal obstruction in infants, the most common site being the second portion of the duodenum. According to the Louw and Barnard classification, type 1 atresia has been defined as an intra-luminal web which results in either complete (web with no perforation) or incomplete (web with central perforation) intestinal obstruction. The jejunum is a rare site of such webs. Diagnosis of an incompletely obstructing web due to central perforation is usually difficult and challenging. We present two cases of jejunal web with a central perforation in which the presentation was delayed. Both were managed by excision of the web.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69886398","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":"Maintenance treatment with trofosfamide in patients with primary bone ewing sarcoma - single center experience.","authors":"A. Raciborska, K. Bilska, C. Rodríguez-Galindo","doi":"10.34763/devperiodmed.20192301.3944","DOIUrl":"https://doi.org/10.34763/devperiodmed.20192301.3944","url":null,"abstract":"BACKGROUND\u0000Patients with Ewing sarcoma have a dismal outcome. Maintenance treatment with trofosfamide has been proposed as an effective regimen for same paediatric malignancies.\u0000\u0000\u0000AIM\u0000We sought to evaluate the schedule of trofosfamide for patients with high-risk primary bone Ewing sarcoma.\u0000\u0000\u0000MATERIALS AND METHODS\u0000Fifteen patients with primary bone Ewing sarcoma received treatment with trofosfamide (750 mg/m2 p.o. days 1-10) every 28 days. All patients hod standard tumour imaging and laboratory evaluation. All toxicities were documented.\u0000\u0000\u0000RESULTS\u0000A tatal of 90 cycles (median 5 cycles/patient) were administered. A complete response was maintained in nine patients, while six patients had disease progression during treatment Median time to progression was 7.9 months (range 1.8 to 4.6). Eleven patients (73.3%) are alive including nine with no evidence of disease with a median follow-up of 3.9 years (range 7.4 to 7.6). All patients with active disease at the start of the trofosfamide treatment died. There were no significant toxicities.\u0000\u0000\u0000CONCLUSIONS\u0000Treatment with trofosfamide is well-tolerated and could have a role to maintain response in patients with primary bone Ewing sarcoma. Further studies are needed to better define the use of this regimen in the upfrront management of those patients.","PeriodicalId":35058,"journal":{"name":"Medycyna wieku rozwojowego","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69886505","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}