Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome
Steroid-resistant nephrotic syndrome (SRNS) are monogenic in some cases, however, there are still no clear guidelines on genetic testing in the clinical practice of SRNS in children. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 23, 2024 Category: Pediatrics Authors: Xueting Cheng, Jiahuan Chen, Xueying Yang, Han Chan, Xia Yang, Jia Jiao, Anshuo Wang, Gaofu Zhang, Xuelan Chen, Xiaoqin Li, Mo Wang, Baohui Yang, Haiping Yang and Qiu Li Tags: Research Source Type: research
Comparison of different genetic testing modalities applied in paediatric patients with steroid-resistant nephrotic syndrome
ConclusionsWe verified that steroids combined with TAC were the most effective option in paediatric SRNS. In detection efficiency, we found that WGS was the highest, followed by WES. The panel was the lowest, but the most cost-effective method when considering the economic-benefit ratio, and thus it should be recommended first in SRNS. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 23, 2024 Category: Pediatrics Source Type: research
Point-of-care ultrasound (POCUS) pediatric resident training course: a cross-sectional survey
Point-of-care ultrasound (POCUS) is becoming increasingly crucial in the Pediatric Emergency Department for objective patient examination. However, despite its growing interest and wide-ranging applications, P... (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 23, 2024 Category: Pediatrics Authors: Manuela Lo Bianco, Santiago Presti, Maria Carla Finocchiaro, Gian Luca Trobia, Tiziana Virginia Sciacca, Maria Elena Cucuzza, Elia Caudullo, Giacomo Calcara, Martino Ruggieri and Vita Antonella Di Stefano Tags: Research Source Type: research
Growth impairment in children with atrophic autoimmune thyroiditis and pituitary hyperplasia
Atrophic autoimmune thyroiditis (AAT) is a rare phenotype of autoimmune thyroiditis (AT) in pediatric age. AAT occurs without thyroid enlargement leading to a delay in its diagnosis. Growth impairment is infre... (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 23, 2024 Category: Pediatrics Authors: Domenico Corica, Tiziana Abbate, Anna Malgorzata Kucharska, Malgorzata Wojcik, Francesco Vierucci, Mariella Valenzise, Alessandra Li Pomi, Giorgia Pepe, Gerdi Tuli, Beata Pyrzak, Tommaso Aversa and Malgorzata Wasniewska Tags: Research Source Type: research
Changing clinical characteristics of pediatric inpatients with pneumonia during COVID-19 pandamic: a retrospective study
This study aimed to compare the pathogen, allergen and micronutrient characteristics of pediatric inpatien... (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 23, 2024 Category: Pediatrics Authors: Mengxue Chen, Yabing Zhou, Shengjie Jin, Shasha Bai, Xiaoyu Tang, Quanhua Liu, Liwei Wang, Ruoxu Ji, Haipei Liu, Wenwei Zhong, Yi Chen, Dingzhu Fang, Jianhua Zhang and Li Hua Tags: Research Source Type: research
Changing clinical characteristics of pediatric inpatients with pneumonia during COVID-19 pandamic: a retrospective study
ConclusionsThe number of children hospitalized with pneumonia and incidence of common pathogen infections were both reduced, and that allergy and micronutrient status in children were also changed after the outbreak of the COVID-19 pandemic. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 23, 2024 Category: Pediatrics Source Type: research
Growth impairment in children with atrophic autoimmune thyroiditis and pituitary hyperplasia
ConclusionsThis is the largest pediatric cohort with severe autoimmune primary hypothyroidism without goiter, but with pituitary hyperplasia in which significant growth impairment was the most evident presenting sign. AAT phenotype might be correlated with this specific clinical presentation. In youths with growth impairment, hypothyroidism should always be excluded even in the absence of clear clinical signs of dysthyroidism. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 23, 2024 Category: Pediatrics Source Type: research
Point-of-care ultrasound (POCUS) pediatric resident training course: a cross-sectional survey
ConclusionsThe results highlight the importance of including a POCUS track course in pediatric post-graduate programs due to its simplicity, rapid learning time, and clinical usefulness. Based on these findings, it would be recommended to increase the teaching hours dedicated to the recognition of pneumothorax and cardiology POCUS examination. Emphasizing POCUS training in pediatric education can enhance patient care and diagnostic accuracy while minimizing radiation exposure. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 23, 2024 Category: Pediatrics Source Type: research
Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children
The variants of nucleoporins are extremely rare in hereditary steroid-resistant nephrotic syndrome (SRNS). Most of the patients carrying such variants progress to end stage kidney disease (ESKD) in their child... (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 22, 2024 Category: Pediatrics Authors: Yanxinli Han, Hongyu Sha, Yuan Yang, Zhuowei Yu, Lanqi Zhou, Yi Wang, Fengjie Yang, Liru Qiu, Yu Zhang and Jianhua Zhou Tags: Research Source Type: research
Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children
ConclusionThis report indicates that biallelic variants inNUP93,NUP107 andNUP160 can cause severe early-onset SRNS, which rapidly progresses to ESKD. Moreover, these findings expand the spectrum of phenotypes and genotypes and highlight the importance of next-generation sequencing in elucidating the molecular basis of SRNS and allowing rational treatment for affected individuals. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 22, 2024 Category: Pediatrics Source Type: research
Two cases of diquat poisoning in adolescent children
Diquat (DQ) is among the most widely used herbicides, and its intake can cause severe systemic toxicity that manifests rapidly. The resultant symptoms can cause the dysfunction of a range of tissues and organs... (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 22, 2024 Category: Pediatrics Authors: Mengtao Duan, Baowang Yang, Xiaohang Cheng, Fuhui Shen, Xia Lu and Fan Wang Tags: Case report Source Type: research
Two cases of diquat poisoning in adolescent children
In this report, we compare two similar cases of juvenile diquat poisoning with dynamic changes in clinical manifestations, laboratory values, and imaging results. For the first time, the difference in whether to perform blood flow perfusion and the time difference of initiation of hemoperfusion had a clear clinical difference in the subsequent effects of diquat poisoning in children with diquat poisoning. Limited evidence is available regarding the efficacy of early hemoperfusion for diquat poisoning; however, the differences in clinical outcomes articulated here highlight the benefits of early and timely hemoperfusion the...
Source: Italian Journal of Pediatrics - April 22, 2024 Category: Pediatrics Source Type: research
Kidney and urogenital abnormalities in Down syndrome: a meta-analysis
Reviews on Down syndrome do not or only marginally address the issue of kidney and urogenital tract abnormalities, and lower urinary tract dysfunctions. Hence, we performed a meta-analysis of the literature. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 20, 2024 Category: Pediatrics Authors: Caterina Maria Rossetti, Giacomo D. Simonetti, Mario G. Bianchetti, Sebastiano A. G. Lava, Giorgio Treglia, Carlo Agostoni, Gregorio P. Milani and J. Peter de Winter Tags: Research Source Type: research
Kidney and urogenital abnormalities in Down syndrome: a meta-analysis
ConclusionsThis meta-analysis indicates that abnormalities of the kidney and urogenital tract, lower urinary tract dysfunctions, and a reduced kidney size present with an increased frequency in individuals with Down syndrome. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 20, 2024 Category: Pediatrics Source Type: research
“Quality of Life in Epidermolysis Bullosa” and “Epidermolysis Bullosa Burden of Disease”: Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires
ConclusionsThe Italian versions of the QOLEB and EB-BoD provide valuable tools in everyday clinical practice of reference centers, and they allow the participation in multicenter international real-life observational studies as well as in controlled clinical trials. They enable the identification of disease-specific psychological and socioeconomic challenges for EB patients and their families, guiding targeted interventions to ensure appropriate and timely care. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - April 19, 2024 Category: Pediatrics Source Type: research
