Minerva pediatrica最新文献

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A qualitative study of pediatric nurses' perception of factors affecting negotiation of care in a Pediatric Stem Cell Transplant Unit. 儿科护士对影响儿科干细胞移植病房护理协商的因素的定性研究。
IF 2.6 4区 医学
Minerva pediatrica Pub Date : 2024-08-01 Epub Date: 2021-01-13 DOI: 10.23736/S2724-5276.20.06165-4
Simona Calza, Roberta Da Rin Della Mora, Alice Todeschini, Paolo Petralia, Silvia Scelsi
{"title":"A qualitative study of pediatric nurses' perception of factors affecting negotiation of care in a Pediatric Stem Cell Transplant Unit.","authors":"Simona Calza, Roberta Da Rin Della Mora, Alice Todeschini, Paolo Petralia, Silvia Scelsi","doi":"10.23736/S2724-5276.20.06165-4","DOIUrl":"10.23736/S2724-5276.20.06165-4","url":null,"abstract":"<p><strong>Background: </strong>The adoption of a \"family centered care\" (FCC) philosophy is essential for the care process and its negotiation. A better understanding of nurses' perception of factors that affect the process of negotiation could allow us to better address future interventions and to improve FCC. The purpose of our study was to investigate pediatric nurses' perception of factors that affect the process of negotiation of care with stem cell transplantation pediatric patients and their parents.</p><p><strong>Methods: </strong>A qualitative research design with in-depth interviews was chosen. Sixteen interviews (16 nurses) were audio recorded and transcribed verbatim. Two researchers conducted independently a thematic analysis of the verbatim transcripts of the interviews.</p><p><strong>Results: </strong>Four themes emerged from the data as factors that affect the process of negotiation: 1) communication; 2) personal factors; 3) specificity; and 4) organization.</p><p><strong>Conclusions: </strong>These themes represent interesting points for future improvement interventions. Negotiation in the stem cell transplant setting would deserve further research, with special focus on children' and parents' perception of factors affecting this important aspect. Furthermore, in the future, negotiation guidelines could be validated and implemented effectively and an already validated tool could be used to document the negotiation process in the stem cell transplant setting.</p>","PeriodicalId":18533,"journal":{"name":"Minerva pediatrica","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38813981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Risk factors associated with wheezing in severe pediatric community-acquired pneumonia: a retrospective study. 与严重儿科社区获得性肺炎喘息相关的风险因素:一项回顾性研究。
IF 2.6 4区 医学
Minerva pediatrica Pub Date : 2024-06-01 Epub Date: 2021-01-13 DOI: 10.23736/S2724-5276.20.06065-X
Lumin Chen, Chong Miao, Yanling Chen, Xian Han, Ziying Lin, Hong Ye, Chengyi Wang, Huijie Zhang, Jingjing Li, Xi Liu, Libo Xu, Guanghua Liu
{"title":"Risk factors associated with wheezing in severe pediatric community-acquired pneumonia: a retrospective study.","authors":"Lumin Chen, Chong Miao, Yanling Chen, Xian Han, Ziying Lin, Hong Ye, Chengyi Wang, Huijie Zhang, Jingjing Li, Xi Liu, Libo Xu, Guanghua Liu","doi":"10.23736/S2724-5276.20.06065-X","DOIUrl":"10.23736/S2724-5276.20.06065-X","url":null,"abstract":"<p><strong>Background: </strong>Wheezing is a common clinical manifestation in children with pneumonia. However, the risk factors associated with the development of wheezing pneumonia and its clinical features are not fully characterized, especially in children with severe pneumonia.</p><p><strong>Methods: </strong>We retrospectively recruited 1434 pediatric patients diagnosed with severe pneumonia between April 2012 and September 2019 in Fujian Maternity and Child Health Hospital. The medical records regarding demographic information, clinical manifestations, radiographic/laboratory findings, and complications were collected. Based on the presence or absence of wheezing symptoms and signs, subjects were divided into wheezing cohort (N.=684) and non-wheezing cohort (N.=750), and their clinical data were compared. Multivariate cox regression analysis was performed to identify independent risk factors of wheezing.</p><p><strong>Results: </strong>Demographic features including gender, weigh, onset season, birth weight, full-term birth or not, history of pneumonia were significantly associated with the occurrence of wheezing in severe CAP (P<0.05). Specifically, male gender, onset seasons in autumn/winter, and absence of a history of pneumonia were identified as independent risk factors of wheezing in multivariate analysis (P<0.05). As for clinical features, wheezing cohort differed from the non-wheezing one in terms of clinical manifestation (higher incidence of cough and breathless, but lower incidence of fever), laboratory finding (higher levels of red blood cells, hemoglobin, and albumin and lower levels of total or indirect bilirubin and creatine), pathogen detection (higher incidence of respiratory syncytial viral infection), and clinical complications (lesser risk of sepsis and hydrothorax) (P<0.05).</p><p><strong>Conclusions: </strong>Severe CAP with wheezing is a special clinical entity of severe pneumonia in children, which has specific risk factors and differ from non-wheezing pneumonia in terms of clinical features and etiologic pathogens.</p>","PeriodicalId":18533,"journal":{"name":"Minerva pediatrica","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38815462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Urinary metabolome of infants with colic treated with Lactobacillus reuteri DSM 17938: a pilot randomized trial. 用 DSM 17938 型纽特乳酸杆菌治疗肠绞痛婴儿的尿液代谢组:一项试点随机试验。
IF 2.6 4区 医学
Minerva pediatrica Pub Date : 2024-06-01 Epub Date: 2021-01-13 DOI: 10.23736/S2724-5276.20.06128-9
Francesco Savino, Vassilios Fanos, Antonio Noto, Deborah Biggio, Claudia Fattuoni, Luigi Barberini
{"title":"Urinary metabolome of infants with colic treated with Lactobacillus reuteri DSM 17938: a pilot randomized trial.","authors":"Francesco Savino, Vassilios Fanos, Antonio Noto, Deborah Biggio, Claudia Fattuoni, Luigi Barberini","doi":"10.23736/S2724-5276.20.06128-9","DOIUrl":"10.23736/S2724-5276.20.06128-9","url":null,"abstract":"<p><strong>Background: </strong>Lactobacillus reuteri DSM 17938 is the only probiotic recommended for treatment of colicky infants, but its mechanism of action is not clear. The study aim was to examine urinary metabolomic fingerprint of colicky breastfed infants before and after 1 month of orally administered Lactobacillus reuteri DSM 17938 or placebo.</p><p><strong>Methods: </strong>This randomized, blinded, placebo-controlled clinical trial was carried out with a well-documented probiotic. Thirty-two infants were enrolled, 16 in the probiotic group and 16 in the placebo group. Urine samples were collected from each subject before starting supplementation and at the end of the study period. Metabolomic profiles were obtained using a gas chromatography/mass spectrometry instrument. Subsequently, to compare groups before and after probiotic supplementation, univariate and multivariate statistical analysis were performed.</p><p><strong>Results: </strong>In the L. reuteri treated group all metabolites for all class of nutrients (sugars, amino acids, carboxylic acids) resulted more abundant after the study period. The comparison with a control group (placebo treated), confirmed this effect on urines.</p><p><strong>Conclusions: </strong>The metabolomic analysis of urine samples from infants treated with L. reuteri DSM 17938 allowed to detect some interesting features related to the effect of this treatment on urinary metabolome. To validate the results, a test on a larger cohort is required.</p>","PeriodicalId":18533,"journal":{"name":"Minerva pediatrica","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38815465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The use of analgesics in pediatric patients with body injuries in pre-hospital conditions. 在院前条件下对身体受伤的儿科病人使用镇痛剂。
IF 2.6 4区 医学
Minerva pediatrica Pub Date : 2024-06-01 Epub Date: 2020-10-27 DOI: 10.23736/S2724-5276.20.06094-6
Piotr K Leszczyński, Daryna Sholokhova, Arkadiusz Wejnarski
{"title":"The use of analgesics in pediatric patients with body injuries in pre-hospital conditions.","authors":"Piotr K Leszczyński, Daryna Sholokhova, Arkadiusz Wejnarski","doi":"10.23736/S2724-5276.20.06094-6","DOIUrl":"10.23736/S2724-5276.20.06094-6","url":null,"abstract":"<p><strong>Background: </strong>Despite the positive dynamic changes in medicine and science, injuries continue to be the dominant cause of death among people under 45 years of age. Children's injuries are particularly dangerous as they can lead to hypovolemic shock, disability or even death. EMS uses opioid and non-opioid analgesics in order to provide relief to patients suffering from pain. The aim of this work is to analyze the types of pharmacological substances used in children in pre-hospital conditions.</p><p><strong>Methods: </strong>The research tools included medical documentation of the emergency medical services in Poland. The analysis included 68,441 medical emergency treatment forms from 2016-2017, from which 464 interventions for children after trauma were selected. The general patient profile, characteristics of the event site, type of injuries suffered, type of intervening EMS, pharmacotherapy being used, as well as vital signs (GCS, RTS, HR, NiBP) were subject to assessment. The χ<sup>2</sup> independence tests were performed, considering the results as statistically significant for P<0.05.</p><p><strong>Results: </strong>There were 354 instances of BEMS (Basic Emergency Medical Services - without a doctor) and 110 instances of SEMS (Specialist Emergency Medical Services - with a doctor) sent to the emergency site. The mean age was 10.8±4.84 years. Boys were subject to intervention more often than girls (N.=283 vs. N.=181). Analgesics were administered in case of 49 (10.56%) patients only. Nonsteroidal anti-inflammatory drugs (NSAIDs) were the analgesics of choice, which were used in 25 patients (50%), while opioid analgesics were used in 10 patients (20.40%). Analgesia was mostly used in patients with lower limb (34.69%) and upper limb (30.61%) injuries. The lowest percentage of analgesic use was observed in patients with head and neck injuries (3.06%). There was a significant relationship demonstrated between the type of EMS and the use of analgesics (χ<sup>2</sup>=6.330; P=0.012).</p><p><strong>Conclusions: </strong>Analgesia with EMS in children with injuries is critically insufficient. NSAIDs are the most commonly administered drugs in pre-hospital conditions. Head and torso injuries reduce the percentage of drugs administered by EMS. The EMS teams with no doctors (BEMS) are significantly more likely to use anesthetics, compared to SEMS.</p>","PeriodicalId":18533,"journal":{"name":"Minerva pediatrica","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38635136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of factors affecting total nucleated cells in umbilical cord blood collected for the Calabria Cord Blood Bank. 评估影响卡拉布里亚脐带血库收集的脐带血总核细胞的因素。
IF 2.6 4区 医学
Minerva pediatrica Pub Date : 2024-06-01 Epub Date: 2020-12-11 DOI: 10.23736/S2724-5276.20.06096-X
Giulia Pucci, Giovanni Foti, Rosangela Surace, Renza Monteleone, Domenica Princi, Enrico Fabrizi, Giuseppe Quattrone, Roberto Miniero, Antonio Liverani, Valentina Talarico
{"title":"Evaluation of factors affecting total nucleated cells in umbilical cord blood collected for the Calabria Cord Blood Bank.","authors":"Giulia Pucci, Giovanni Foti, Rosangela Surace, Renza Monteleone, Domenica Princi, Enrico Fabrizi, Giuseppe Quattrone, Roberto Miniero, Antonio Liverani, Valentina Talarico","doi":"10.23736/S2724-5276.20.06096-X","DOIUrl":"10.23736/S2724-5276.20.06096-X","url":null,"abstract":"<p><strong>Background: </strong>Total nucleated cell (TNC) count is the most important biological feature to consider in assessing the quality of umbilical cord blood (UCB) for hematopoietic stem cell (HSC) transplantation. Certain obstetric factors have been reported to increase TNC count in UCB units collected for transplantation. The aim of our study was to analyze how various maternal, neonatal and obstetric factors affected TNC count in the UCBs we collected for our cord blood bank in southern Italy.</p><p><strong>Methods: </strong>We performed a retrospective analysis of 634 medical records of UCBs collected by Calabria Cord Blood Bank (CCBB), Reggio Calabria, Italy, between January 1, 2010, and December 31, 2016. We analyzed various maternal, neonatal and obstetric variables factors and related this factor with the characteristic of TNC.</p><p><strong>Results: </strong>We found that the average number of TNCs was significantly greater in vaginal delivery than in caesarean delivery. We also found that TNCs were higher in the 40<sup>th</sup> week of pregnancy and when Apgar 1' scores were ≤9. The effect of a newborn's gender was less evident on TNC count.</p><p><strong>Conclusions: </strong>Knowledge of factors predictive of a higher TNC count would help cord blood banks more efficiently identify donors likely to yield high-quality UCBs for transplantation.</p>","PeriodicalId":18533,"journal":{"name":"Minerva pediatrica","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38702618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Respiratory polygraphy in children with bronchopulmonary dysplasia: a retrospective study. 支气管肺发育不良患者的呼吸多导图:一项回顾性研究。
IF 2.6 4区 医学
Minerva pediatrica Pub Date : 2024-06-01 Epub Date: 2020-12-11 DOI: 10.23736/S2724-5276.20.06088-0
Carlo De Pieri, Brigitte Fauroux, Sonia Khirani, Briac Thierry, Christophe Delacourt, Paola Cogo, Alessandro Amaddeo
{"title":"Respiratory polygraphy in children with bronchopulmonary dysplasia: a retrospective study.","authors":"Carlo De Pieri, Brigitte Fauroux, Sonia Khirani, Briac Thierry, Christophe Delacourt, Paola Cogo, Alessandro Amaddeo","doi":"10.23736/S2724-5276.20.06088-0","DOIUrl":"10.23736/S2724-5276.20.06088-0","url":null,"abstract":"<p><strong>Background: </strong>Periodic assessment of the need for oxygen supplementation and/or mechanical ventilation in children with severe bronchopulmonary dysplasia (BPD) is crucial. The aim of the study was to analyze the indications and results of respiratory polygraphies (RP) performed in preterm infants with BPD followed at a tertiary university hospital.</p><p><strong>Methods: </strong>All subjects <5-year-old with BPD who had a RP between September and February 2018 were included. The indications and results of RP and consequent medical management were analyzed.</p><p><strong>Results: </strong>Fourteen infants (9 females, mean gestational age 27.6±3.3 weeks) underwent a RP at mean age of 26.4±19.4 months. Five subjects were evaluated for the need of long-term respiratory support (RS), 3 started continuous positive airway pressure (CPAP), 2 were weaned from RS. Four subjects underwent RP for suspected obstructive sleep apnea (OSA), one started on CPAP. Central apnea syndrome (CSA) was confirmed in 2 subjects and one was started on non-invasive ventilation. RP allowed safe tracheostomy decannulation in 2 subjects. Finally, RP was normal in one subject who had a brief resolved unexplained event.</p><p><strong>Conclusions: </strong>RP represents an important tool for the evaluation of children with BPD and leads to important therapeutic decisions.</p>","PeriodicalId":18533,"journal":{"name":"Minerva pediatrica","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38702617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Parental stress in the relationship with children affected by chronic hematologic disease. 父母与慢性血液病患儿关系中的压力。
IF 2.6 4区 医学
Minerva pediatrica Pub Date : 2024-04-01 Epub Date: 2020-11-11 DOI: 10.23736/S2724-5276.20.05912-5
Alessia Ribilotta, Marina Sergio, Dorella Scarponi
{"title":"Parental stress in the relationship with children affected by chronic hematologic disease.","authors":"Alessia Ribilotta, Marina Sergio, Dorella Scarponi","doi":"10.23736/S2724-5276.20.05912-5","DOIUrl":"10.23736/S2724-5276.20.05912-5","url":null,"abstract":"<p><strong>Background: </strong>Sickle cell disease (SCD) and autoimmune thrombocytopenic purpura (AITP) are pediatric diseases which frequently are associated with cognitive, social and emotional complications and can lead caregivers to important consequences. The aim of this study was to examine the potential psychologic parental distress and the plausible interference with suffering of their children.</p><p><strong>Methods: </strong>We recruited 39 parents of 44 pediatric patients and divided them into two groups: patients affected by SCD and patients affected by AITP. Parenting Stress Index Short-form (PSI-SF) was proposed to the parents. We investigated the statistical correlations between the PSI-SF variables of the test, the patients scores at the cognitive test, the patients age, and the scores obtained at the mood test.</p><p><strong>Results: </strong>The analysis of the parents scores obtained by the test reported that the stress levels of the parents of children affected by SCD are higher than those the other group. The analysis of the data showed that 72% of the patients score was average in the cognitive test, whereas 28% of them obtained a score below average; in the mood assessment tests: 35% of the patients reported elevated scores in the depression subscale; 21% showed an elevated score in the anxiety subscale.</p><p><strong>Conclusions: </strong>The data obtained provide us useful indications about pattern of behavior between the parents and the children affected by chronic hematological diseases. The differences in the perception of the parental distress were associated with children's disease, social problems increased parental distress, which was correlated with depression symptoms of the children.</p>","PeriodicalId":18533,"journal":{"name":"Minerva pediatrica","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38597082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
How the pandemic spread of COVID-19 affected children's traumatology in Italy: changes of numbers, anatomical locations, and severity. COVID-19 的大流行对意大利儿童创伤科的影响:数量、解剖位置和严重程度的变化。
IF 2.6 4区 医学
Minerva pediatrica Pub Date : 2024-04-01 Epub Date: 2020-10-05 DOI: 10.23736/S2724-5276.20.05910-1
Antonio Memeo, Daniele Priano, Camilla Caldarini, Paolo Trezza, Melania Laquidara, Lucrezia Montanari, Pietro Randelli
{"title":"How the pandemic spread of COVID-19 affected children's traumatology in Italy: changes of numbers, anatomical locations, and severity.","authors":"Antonio Memeo, Daniele Priano, Camilla Caldarini, Paolo Trezza, Melania Laquidara, Lucrezia Montanari, Pietro Randelli","doi":"10.23736/S2724-5276.20.05910-1","DOIUrl":"10.23736/S2724-5276.20.05910-1","url":null,"abstract":"<p><strong>Background: </strong>The study aim was to share our experience in hospital reorganization and management of pediatric traumatology in the early stage of COVID-19 pandemic. We centralized pediatric traumatology supposing a reduction of ER admissions, with increased severity of conditions, and a change in fracture patterns; consequently, we reorganized our structure. The COVID-19 epidemic in Europe has seen Italy as the first focus starting from February 21, 2020. Lombardy has been the most affected area. The initial NHS approach determined a high percentage of hospital admissions that led to early overload of hospitals, and we had to reorganize our structure to face the emergency.</p><p><strong>Methods: </strong>We retrospectively evaluated the admission and treatment data to observe the epidemiological evolution of pediatric trauma during the lockdown ordinance and compared them with the same period in 2019.</p><p><strong>Results: </strong>We found a reduction of 78% pediatric visits in the ER but no decrease in the number of pediatric fractures. We found a rate of pediatric fractures increased by 21.62%: the upper limb fractures being the most representative.</p><p><strong>Conclusions: </strong>Our expectations were confirmed. We believe that the reorganization and the guidelines by us designed have been effective to spare resources and subtract the pediatric traumatology load from those hospitals dealing with an unexpected number of critical COVID-19 patients. Even if we experienced a significant reduction of pediatric admissions to our trauma ER, the presence of a determined number of fractures justifies the necessity of a specialized hub to collect all pediatric fractures.</p>","PeriodicalId":18533,"journal":{"name":"Minerva pediatrica","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38454338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype. 新生儿筛查发现的 21- 羟化酶缺乏症:生长模式与基因型无关。
IF 2.6 4区 医学
Minerva pediatrica Pub Date : 2024-02-01 Epub Date: 2020-06-05 DOI: 10.23736/S2724-5276.20.05795-3
Jan David, Zuzana Hrubá, Stanislava Kolouâková, Felix Votava
{"title":"Newborn screening-detected 21-hydroxylase deficiency: growth pattern is not associated with the genotype.","authors":"Jan David, Zuzana Hrubá, Stanislava Kolouâková, Felix Votava","doi":"10.23736/S2724-5276.20.05795-3","DOIUrl":"10.23736/S2724-5276.20.05795-3","url":null,"abstract":"<p><strong>Background: </strong>Normalizing growth in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21OHD-CAH) requires a long-term maintenance of a fragile balance between hydrocortisone (HC) replacement and androgen suppression. The growth pattern in children with 21OHD-CAH diagnosed by clinical symptoms has been evaluated in numerous retrospective studies. The aim of this study was to evaluate growth of patients with 21OHD-CAH detected by newborn screening (NBS), prior to clinical symptoms.</p><p><strong>Methods: </strong>Nation-wide NBS for 21OHD-CAH was implemented in the Czech Republic in 2006. Since then, 1,317,987 neonates were screened (2006-2017) and 21OHD-CAH was confirmed in 108 patients. Growth was evaluated as height-standard deviation score (SDS) at regular time-points, related to bone age and compared to recent population standards. In 88 patients, available data allowed long-term evaluation of growth, HC and fludrocortisone doses (in half-year intervals), with a median observation period of ten years.</p><p><strong>Results: </strong>Body height in affected children was shorter between years 1-9 of life with a nadir at age 1-3 years. Their height did not differ from general population at the age 10-12 years. There were not found differences according to 21OHD-CAH severity.</p><p><strong>Conclusions: </strong>NBS is an effective secondary prevention tool for the early detection of 21OHD-CAH which improves growth patterns. A significant growth deceleration was observed during infancy and early childhood periods but with following height normalization. Growth pattern was not associated with the genotype of 21OHD, if patients have been detected by NBS.</p>","PeriodicalId":18533,"journal":{"name":"Minerva pediatrica","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38017883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Arthrogryposis is a descriptive term, not a specific disease entity: Escobar Syndrome is an example. 关节突眼症是一个描述性术语,而不是一种特定的疾病实体:埃斯科巴综合征就是一个例子。
IF 2.6 4区 医学
Minerva pediatrica Pub Date : 2024-02-01 Epub Date: 2020-06-12 DOI: 10.23736/S2724-5276.20.05796-5
Ali Al Kaissi, Sergey Ryabykh, Polina Ochirova, Sami Bouchoucha, Vladimir Kenis, Mohammad Shboul, Rudolf Ganger, Franz Grill, Susanne G Kircher
{"title":"Arthrogryposis is a descriptive term, not a specific disease entity: Escobar Syndrome is an example.","authors":"Ali Al Kaissi, Sergey Ryabykh, Polina Ochirova, Sami Bouchoucha, Vladimir Kenis, Mohammad Shboul, Rudolf Ganger, Franz Grill, Susanne G Kircher","doi":"10.23736/S2724-5276.20.05796-5","DOIUrl":"10.23736/S2724-5276.20.05796-5","url":null,"abstract":"<p><strong>Background: </strong>Children born with multiple congenital contractures have been almost always given the diagnosis of arthrogryposis multiplex congenita. Arthrogryposis is a descriptive term, not a specific disease entity. A heterogeneous group of conditions associated with multiple congenital joint contractures (mostly syndromic) should be considered.</p><p><strong>Methods: </strong>The records of seven children (four boys and three girls aged 6 months - 11 years) of different ethnic origins have been included in this study. The constellation of specific craniofacial dysmorphic features, spine malformation complex, and appendicular skeletal abnormalities in addition to camptodactyly, talipes equinovarus and rocker-bottom feet were a cluster of malformation complex encountered in our patients. Via comprehensive clinical and imaging study (3D reconstruction CT scan), definite diagnosis of Escobar Syndrome has been approached.</p><p><strong>Results: </strong>The clinical and imaging phenotype was the key factor towards etiological understanding, treatment and genotype confirmation. We identified compound heterozygous mutations (c.459dupA [p.Val154Serfs*24] and c.794T>G [p.Leu265Serfs*24] of the CHRNG gene in four patients. Bilateral flexion contractures of the knees have been treated by using Iliazarov external fixator. Simultaneous corrections of scoliosis have been achieved by applying either dual traditional growing rods or single growing rods.</p><p><strong>Conclusions: </strong>The clinical and radiological phenotypic characterizations are the fundamental tool in differentiating Escobar from other forms of multiple contractures. The aim of this study are three folds, firstly to demonstrate the importance of detecting the etiological understanding in children presented with multiple contractures, secondly to refute the general conception among the vast majority of pediatricians and orthopedic surgeons that arthrogryposis multiplex is a diagnostic entity. And thirdly, we were able to detect severe spine deformity via 3D reconstruction CT scan, namely unsegmented posterior spinal bar.</p>","PeriodicalId":18533,"journal":{"name":"Minerva pediatrica","volume":null,"pages":null},"PeriodicalIF":2.6,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38046618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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