X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant
Galloway-Mowat syndrome (GAMOS) is a rare genetically heterogeneous disorder presented with early-onset steroid-resistant nephrotic syndrome in combination with microcephaly and brain anomalies. It was originally described in two siblings by Galloway and Mowat in 1968.1 Recently, novel causative mutations for GAMOS have been identified in the genes encoding the four KEOPS (kinase, endopeptidase, and other proteins of small size) subunits: LAGE3, OSGEP, TP53RK, and TPRKB.2 Braun et al. revealed that knocking down genes encoding KEOPS subunits in human podocytes results in impaired cell proliferation and translation, endop...
Source: Pediatrics and Neonatology - October 26, 2022 Category: Perinatology & Neonatology Authors: Tsai-Ling Liu, Shuan-Pei Lin, Martin Zenker, Tung-Ying Chen, Jui-Hsing Chang, Chun-Chen Lin, Jeng-Daw Tsai Tags: Short Communication Source Type: research
Giant desmoid fibromatosis of the pancreas
A 15-year-old girl had abdominal distension and appetite loss with episodic heartburn and vomiting for approximately 2 months, but gained 3 kg of weight. Physical examination revealed a huge and hard abdominal mass. Tumor markers including α-fetoprotein, β-human chorionic gonadotropin, carcinoembryonic antigen, CA125, and CA19-9 were all normal. Computed tomography disclosed a gigantic solid mass, occupying the whole abdominopelvic cavity (Fig. 1). Notably, the pancreas was only identifiable by its head and contiguous splenic vein. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - October 26, 2022 Category: Perinatology & Neonatology Authors: Jeng-Chang Chen, Shih-Chiang Huang Tags: Images Source Type: research
X-linked recessive Galloway- Mowat syndrome 2 caused by a specific LAGE3 variant
(Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - October 26, 2022 Category: Perinatology & Neonatology Authors: Tsai-Ling Liu, Shuan-Pei Lin, Martin Zenker, Tung-Ying Chen, Jui-Hsing Chang, ChunChen Lin, Jeng-Daw Tsai Tags: Short Communication Source Type: research
Survival of the Smallest Premature Infant with Gastric Perforation
(Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - October 26, 2022 Category: Perinatology & Neonatology Authors: Shabih Manzar Tags: Letter to the Editor Source Type: research
Giant desmoid fibromatosis of pancreas
(Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - October 26, 2022 Category: Perinatology & Neonatology Authors: Jeng-Chang Chen, Shih-Chiang Huang Tags: Images Source Type: research
Anxiety-driven Post-vaccination Concerns in the Pediatric Emergency Department
(Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - October 26, 2022 Category: Perinatology & Neonatology Authors: Daniel Tsung Ning Huang Tags: Editorial Source Type: research
Current and new therapies for mucopolysaccharidoses
The mucopolysaccharidoses (MPSs) are a subset of lysosomal storage diseases caused by deficiencies in the enzymes required to metabolize glycosaminoglycans (GAGs), a group of extracellular heteropolysaccharides that play diverse roles in human physiology. As a result, GAGs accumulate in multiple tissues, and affected patients typically develop progressive, multi-systemic symptoms in early childhood. Over the last 30 years, the treatments available for the MPSs have evolved tremendously. There are now multiple therapies that delay the progression of these debilitating disorders, although their effectiveness varies according...
Source: Pediatrics and Neonatology - October 26, 2022 Category: Perinatology & Neonatology Authors: Penon-Portmann Monica, Blair David R, Harmatz Paul Tags: Review Article Source Type: research
Diagnostic accuracy of SARS-CoV-2 antigen test in the pediatric population: a systematic review and meta-analysis
Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has caused the global coronavirus disease 2019 (COVID-19) pandemic. Rapid identification and isolation of patients infected with SARS-CoV-2 are critical methods for blocking COVID-19 transmission. The advantages of antigen tests, such as their relatively low cost and short turnaround time, can contribute to the prompt identification of infectious individuals. However, the diagnostic accuracy of antigen tests for COVID-19 in children remains inconclusive. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - October 25, 2022 Category: Perinatology & Neonatology Authors: Cheng-Chieh Chen, Shih-Yen Chen, Shiuh-Bin Fang, Shou-Cheng Lu, Chyi-Huey Bai, Yuan-Hung Wang Tags: Original Article Source Type: research
Easily Missed Pediatric Handlebar Injury
(Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - October 19, 2022 Category: Perinatology & Neonatology Authors: Po-Shun Wang, Twei-Shiun Jaw Tags: Images Source Type: research
Reappraisal of Therapeutic Vancomycin Trough Concentrations with Empirical Dosing in Neonatal Infections
Vancomycin is commonly used for neonatal sepsis. However, consensus on an empirical neonatal vancomycin regimen remains uncertain. We aimed to reappraise the therapeutic optimum concerning vancomycin trough concentrations with empirical dosing and to evaluate the relationship between trough concentrations and predicted 24-hour area under the curve (AUC24). (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - October 18, 2022 Category: Perinatology & Neonatology Authors: Tzung-Yi Lee, Yi-Li Hung, Chung-Min Shen, Chi-Lan Kao, Wu-Shiun Hsieh Tags: Original Article Source Type: research
Macrodactyly as a rare manifestation of Tuberous Sclerosis
(Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - October 13, 2022 Category: Perinatology & Neonatology Authors: Eduardo Bandeira Tags: Images Source Type: research
Genotype-phenotype correlation in Jordanian children with genetically-proven familial Mediterranean fever: the effect of R202Q mutation
This study aimed to review children with genetically-proven FMF, to describe their mutation maps and clinical characteristics, and to explore the genotype –phenotype correlation. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - October 13, 2022 Category: Perinatology & Neonatology Authors: Eyad Altamimi, Dua` N. Samara, Dima Bani Issa, Saied Jaradat, Wail Hayajneh Tags: Original Article Source Type: research
The long-term clinical course of protein-losing enteropathy combined with iron deficiency anemia in Korean toddlers: possible association with cow ’s milk protein
Protein-losing enteropathy (PLE), a rare condition with excessive gastrointestinal protein loss, presents with hypoalbuminemia, edema, or ascites. Several cases of PLE combined with severe iron deficiency anemia (IDA) have been reported in infants and toddlers that were considered to result from excessive cow ’s milk consumption, although the mechanism has not been clearly established. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - October 2, 2022 Category: Perinatology & Neonatology Authors: Yeoun Joo Lee, Seongmin Pak, Jeana Hong Tags: Original Article Source Type: research
Adeno-associated virus vector-based gene therapies for pediatric diseases
Gene therapy using adeno-associated virus (AAV) is a rapidly developing technology with widespread treatment potential. AAV2 vectors injected directly into the brain by stereotaxic brain surgery have shown good results in treating aromatic l-amino acid decarboxylase deficiency. Moreover, gene therapy using the AAV9 vector, which crosses the blood-brain barrier, has been performed in more than 2,000 patients worldwide as a disease-modifying therapy for spinal muscular atrophy. AAV vectors have been applied to the development of gene therapies for various pediatric diseases. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - September 30, 2022 Category: Perinatology & Neonatology Authors: Kazuhiro Muramatsu, Shin-ichi Muramatsu Tags: Review Article Source Type: research
Evaluation of emotional, Behavioral, and clinical characteristics of children aged 1 –5 with a history of food-related anaphylaxis
Our study aimed to investigate emotional, behavioral, and social characteristics assessed with internationally validated psychometric scales and their relationship with demographic, clinical, and laboratory data in children with a history of food-related anaphylaxis. (Source: Pediatrics and Neonatology)
Source: Pediatrics and Neonatology - September 29, 2022 Category: Perinatology & Neonatology Authors: Zeynep Şengül Emeksiz, Aysegul Ertuğrul, Sabide Duygu Uygun, Serap Özmen Tags: Original Article Source Type: research
