Article
Pediatrics
Go Miyano, Keiichi Morita, Koichi Tsuboi, Seitaro Kosaka, Toshiaki Takahashi, Susumu Yamada, Shunsuke Yamada, Takanori Ochi, Shogo Seo, Hiroyuki Koga, Tsubasa Takahashi, Koji Fukumoto, Naoto Urushihara, Tadashi Hatakeyama, Tadaharu Okazaki, Toshihiro Yanai, Geoffrey J. Lane, Atsuyuki Yamataka
Summary: The aim of this study was to assess the long-term quality of life of patients with total colonic aganglionosis. The results showed that the general lifestyle and bowel function of patients improved significantly with age, while their mental health did not change significantly. The study also revealed that patients felt better about their mental health than their caregivers believed. The surgical technique and the presence of a pouch had no impact on the quality of life.
PEDIATRIC SURGERY INTERNATIONAL
(2022)
Article
Surgery
Anthony R. Pecoraro, Chelsea E. Hunter, William E. Bennett, Troy A. Markel
Summary: Hirschsprung disease is a rare disorder requiring surgical intervention, and postoperative hospital stay and costs are influenced by various factors. Comprehensive management is essential to minimize readmission and excessive hospital charges.
JOURNAL OF SURGICAL RESEARCH
(2021)
Article
Pharmacology & Pharmacy
Pratibha Wankhede, Achal Gulghane, Mayur Wanjari
Summary: Hirschsprung's disease is a condition that affects the large intestine, presenting symptoms such as difficulty passing stool from birth. Diagnostic evaluation includes CBC and blood tests for confirmation, while therapeutic intervention typically involves blood transfusion and medication to improve the condition.
JOURNAL OF PHARMACEUTICAL RESEARCH INTERNATIONAL
(2021)
Review
Medicine, General & Internal
Qi Wang, Yuanyuan Liang, Mengqi Luo, Liwei Feng, Bo Xiang
Summary: This study compared the effectiveness of the Duhamel and TERPT procedures in treating children with Hirschsprung's disease. The results showed that compared to the TERPT procedure, the Duhamel procedure had a longer postoperative hospital stay, a higher incidence of postoperative constipation, and a lower incidence of postoperative anastomotic stricture. However, the effect of these procedures on operation time and the incidence of postoperative enterocolitis remains unclear.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Pediatrics
Ulrike Metzger, Armin-Johannes Michel, Mircia-Aurel Ardelean, Roman Patrick Metzger
Summary: Intestinal aganglionosis in children is a common cause of neonatal and infantile obstruction, and diagnosis is based on a histological confirmation of the absence of enteric ganglion cells. The therapeutic goal is a one-stage repair involving resection of the affected segment. The endorectal pull-through (ERP) can be performed entirely transanally in many cases, but difficult preparations or high aganglionosis may necessitate the assistance of laparoscopy or laparotomy. This article presents two cases of a technical modification that performs a transanal pull-through colectomy using only an umbilical camera trocar. The modification combines the advantages of laparoscopy and ERP, providing an excellent view without the need for additional trocars or traction of the anal sphincter, potentially resulting in less trauma to the distal anal canal.
Article
Pediatrics
Zhen Zhang, Qi Li, Bo Li, Mashriq Alganabi, Long Li
Summary: The aim of this study was to determine the outcomes of bowel function and quality of life in patients with Hirschsprung disease after undergoing TRM-PIAS. The study found that compared to healthy individuals, patients who underwent TRM-PIAS had significant impairment in fecal control, but bowel function improved with age. Patients who had experienced Hirschsprung associated enterocolitis had a slower recovery.
FRONTIERS IN PEDIATRICS
(2023)
Article
Medicine, General & Internal
Alaa Ali, Fayza Haider, Saeed Alhindi
Summary: The prevalence of Hirschsprung's disease in Bahrain is 1.3 per 10,000 live births, with males accounting for 72% and Bahraini nationals making up nearly 94% of cases. Most patients pass meconium within 48 hours of birth, but over a third are diagnosed beyond the neonatal period.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2021)
Article
Pediatrics
Bahar Ashjaei, Afshar Ghamari Khameneh, Neda Pak, Gisoo Darban Hosseini Amirkhiz, Alipasha Meysamie, Moeinadin Safavi, Sanam Darban Hosseini Amirkhiz, Parin Tanzi
Summary: According to the study findings, it is safe to perform single stage TERPT when the aganglionic length on CE is less than 52 cm and the child with Hirschsprung disease is older than 10 months. These patients have a low chance of requiring additional surgeries.
JOURNAL OF PEDIATRIC SURGERY
(2021)
Article
Oncology
Mingkun Liu, Zhixiong Lin, Dianming Wu, Yifan Fang, Fei Chen, Yingjian Chen, Shangeng Weng
Summary: This study aimed to investigate the efficacy of modified transanal Soave assisted by laparoscopy in children with Hirschsprung's disease (HD) and its related factors. The results showed that laparoscopic-assisted modified surgery can improve anal function and quality of life, reduce anal pressure, and have a low complication rate. Enteritis, abdominal distension, and anastomotic stenosis were identified as important factors affecting the recovery of Hirschsprung's disease in children.
AMERICAN JOURNAL OF TRANSLATIONAL RESEARCH
(2022)
Article
Medicine, General & Internal
Raymond I. Okeke, Christian Saliba, Diana Fan, Justin Lok, Catherine O'Leary, Maaria Chaudhry, Justin Sobrino, Shin Miyata, Christopher Blewett
Summary: Hirschsprung's disease is a congenital anomaly that affects bowel motility. The symptoms can present in neonates or older children depending on the extent of the disease. Treatment usually involves temporary ostomy and interval surgical reconstruction. For patients with near or total intestinal aganglionosis, there is currently a lack of consensus on the most effective surgical reconstruction.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Medicine, General & Internal
Sanjeev K. Singh, Umesh K. Gupta, Roopak Aggarwal, Rafey A. Rahman, Nand K. Gupta, Vandana Verma
Summary: The study demonstrates that calretinin immunostaining is a useful method in diagnosing suspicious cases of HD, providing easy interpretation and aiding in accurate diagnosis of HD cases. Results showed a higher prevalence of HD in male patients, with the majority of patients being in the neonatal period.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2021)
Review
Pediatrics
Clara Sze-man Tang, Anwarul Karim, Yuanxin Zhong, Patrick Ho-yu Chung, Paul Kwong-hang Tam
Summary: Recent advances in genetic research have provided new insights into the genetic architecture and molecular mechanisms of Hirschsprung's disease. Genetic heterogeneity, variable penetrance and expressivity, and genetic interaction are characteristic features of this disease. Understanding how common and rare variants modulate the phenotype is crucial for precision medicine and developing novel therapies for Hirschsprung's disease.
PEDIATRIC SURGERY INTERNATIONAL
(2023)
Article
Mathematics
Ramiz Tapdigoglu, Berikbol T. Torebek
Summary: The Duhamel product is used to define the product of two suitable functions, while considering the integration operator and the commutant of Duhamel operators in the C-infinity space. Additionally, the unique solution of the Duhamel equation depends on whether phi (0) is equal to 0.
BULLETIN OF THE MALAYSIAN MATHEMATICAL SCIENCES SOCIETY
(2021)
Article
Gastroenterology & Hepatology
Jia-Yu Yan, Chun-Hui Peng, Wen-Bo Pang, Yong-Wei Chen, Cai-Ling Ding, Ya-Jun Chen
Summary: Reoperation for patients with total colonic aganglionosis (TCA) who require a redo pull-through (Redo PT) may be necessary due to residual aganglionosis after the initial radical operation. The study found that Redo PT was effective in treating recurrent obstructive symptoms and dilated proximal bowel, providing good long-term outcomes comparable to those of patients who underwent a single pull-through (Single PT). Post-operative complications and long-term outcomes were similar between the Redo PT and Single PT groups.
GASTROENTEROLOGY REPORT
(2021)
Review
Medicine, General & Internal
Adrian Constantin, Florin Achim, Dan Spinu, Bogdan Socea, Dragos Predescu
Summary: Idiopathic megacolon is a rare condition with a diagnosis mainly based on exclusion, while treatment still relies mainly on resection surgery. There is currently no significant progress in etiopathogenic treatment options.
Article
Pediatrics
Andrea Conforti, Chiara Pellegrino, Laura Valfre, Chiara Iacusso, Paolo Maria Salvatore Schingo, Irma Capolupo, Stefania Sgro, Lars Rasmussen, Pietro Bagolan
Summary: The aim of this study was to report the preliminary experience with magnamosis in treating LGEA. The results showed that magnamosis was a safe and effective minimally invasive option for these patients, with successful outcomes in all cases. The main outcomes considered were demographic and surgical features, postoperative complications, and feeding within 6 months of follow-up.
JOURNAL OF PEDIATRIC SURGERY
(2023)
Article
Acoustics
A. Romiti, F. Moro, L. Ricci, C. Codeca, F. Pozzati, M. Viggiano, R. Vicario, I. Fabietti, G. Scambia, P. Bagolan, A. C. Testa, L. Caforio
Summary: This retrospective study examined 51 fetal ovarian cysts in 48 fetuses and reclassified the cysts using IOTA terminology. The results showed that anechoic cysts and cysts with low-level content often resolved spontaneously, while cysts with ground-glass, hemorrhagic, mixed, or undefined content were frequently associated with postoperative necrosis.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY
(2023)
Article
Rheumatology
Meredyth G. Ll Wilkinson, Dale Moulding, Thomas C. R. McDonnell, Michael Orford, Chris Wincup, Joanna Y. J. Ting, Georg W. Otto, Restuadi Restuadi, Daniel Kelberman, Charalampia Papadopoulou, Sergi Castellano, Simon Eaton, Claire T. Deakin, Elizabeth C. Rosser, Lucy R. Wedderburn
Summary: This study identifies a novel pathway in which altered mitochondrial biology in CD14+ monocytes of Juvenile dermatomyositis (JDM) patients leads to the production of oxidized mitochondrial DNA (oxmtDNA) and stimulates the expression of interferon (IFN) type 1 signature genes. Targeting this pathway has therapeutic potential in JDM and other IFN type 1-driven autoimmune diseases.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Review
Obstetrics & Gynecology
Isabella Fabietti, Chiara Vassallo, Domenico Umberto De Rose, Agnese Maria Chiara Rapisarda, Anita Romiti, Milena Viggiano, Roberta Vicario, Federico Scorletti, Marco Bonito, Pietro Bagolan, Leonardo Caforio
Summary: Introduction: The study aims to determine the effectiveness and safety of intrafetal laser (IFL) therapy in managing various prenatal conditions. Methods: A systematic review of 41 articles was conducted, covering a 20-year period (2001-2021) and including cases of twin reversed arterial perfusion (TRAP) sequence, bronchopulmonary sequestrations (BPS), placental chorioangiomas (PCA), sacrococcygeal teratoma (SCT), and embryo reduction (ER) managed using IFL. Results: Successful outcomes were observed in the disruption of acardiac twin perfusion in TRAP, IFL treatment of BPS with no significant complications, and PCA with no cases of preterm premature rupture of membranes (p-PROM) reported. However, the rate of preterm birth (PTB) varied among different conditions, reaching 87.5% in SCT. Discussion: IFL is shown to be a feasible technique for managing fetal conditions, but the risk of PTB and its related morbidity and mortality should be considered during prenatal counseling.
FETAL DIAGNOSIS AND THERAPY
(2023)
Article
Nutrition & Dietetics
Birna Thorisdottir, Tinna Odinsdottir, Geir Gunnlaugsson, Simon Eaton, Mary S. Fewtrell, Adriana Vazquez-Vazquez, Ronald E. Kleinman, Inga Thorsdottir, Jonathan C. K. Wells
Summary: This study confirms that when mothers are motivated and supported without economic restraints, breastmilk intake and the energy supplied by breastmilk to exclusively breastfed (EBF) infants at 6 mo of age is sufficient to support normal growth patterns. There was no evidence of constraint on fat-free mass (FFM), and other studies show that high fat mass (FM) in EBF infants is likely to be transient.
AMERICAN JOURNAL OF CLINICAL NUTRITION
(2023)
Review
Pediatrics
Nadine Teunissen, Julia Brendel, Simon Eaton, Nigel Hall, Rebecca Thursfield, Ernest L. W. van Heurn, Benno Ure, Rene Wijnen
Summary: This study conducted a systematic review of parameters studied in esophageal atresia (EA) research, revealing significant variability in reporting, utilization, and definition. The findings highlight the importance of standardized reporting to compare EA research results, and the identified parameters can contribute to the development of evidence-based consensus and standardized data collection in registries or clinical audits. This enables benchmarking and comparisons of care across different centers, regions, and countries.
EUROPEAN JOURNAL OF PEDIATRIC SURGERY
(2023)
Review
Biochemistry & Molecular Biology
Flaminia Pugnaloni, Irma Capolupo, Neil Patel, Paola Giliberti, Andrea Dotta, Pietro Bagolan, Florian Kipfmueller
Summary: This review highlights the importance of miRNAs in CDH-related PH and summarizes the findings from animal and human CDH studies. The focus on epigenetic modulators of CDH-PH offers potential for developing innovative diagnostic tools and treatment approaches, and enhances researchers' understanding of CDH pathophysiology.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Letter
Pediatrics
Joseph R. Davidson, Simon Eaton, Mikko P. Pakarinen, Joe Curry
JOURNAL OF PEDIATRIC SURGERY
(2023)
Article
Pediatrics
Isabel C. Hageman, Hendrik J. J. van der Steeg, Ekkehart Jenetzky, Misel Trajanovska, Sebastian K. King, Ivo de Blaauw, ARM Net Consortium
Summary: The quality of the Anorectal Malformation Network (ARM-Net) registry was assessed, and it was found that while the collected data are valuable, they are susceptible to error and user variability. Continuous evaluations are needed to maintain relevant and high-quality data and achieve long-term sustainability.
JOURNAL OF PEDIATRIC SURGERY
(2023)
Article
Genetics & Heredity
Isabella Fabietti, Giulia Grassini, Sara Savelli, Roberta Vicario, Anita Romiti, Milena Viggiano, Chiara Vassallo, Laura Valfre, Paola Giliberti, Irma Capolupo, Marco Bonito, Pietro Bagolan, Francesco Morini, Leonardo Caforio
Summary: This study aimed to evaluate fetal brain development in CDH using MRI. The results showed that CDH fetuses had a smaller fronto-occipital diameter, reduced insular depth, deeper cingulate and insular fissure, and greater third ventricle width compared to controls. These findings suggest that CDH may impact fetal brain development with an overall reduction in brain volume.
PRENATAL DIAGNOSIS
(2023)
Article
Neurosciences
Jenny Lange, Olivia Gillham, Michael Flower, Heather Ging, Simon Eaton, Sneha Kapadia, Andreas Neueder, Michael R. Duchen, Patrizia Ferretti, Sarah J. Tabrizi
Summary: Huntington's Disease is a neurodegenerative disease caused by a genetic mutation. Astrocyte dysfunction, specifically changes in gene expression and metabolic activity, plays a role in the pathogenesis of the disease. Additionally, all Huntington's Disease astrocytes exhibit increased DNA damage and a DNA damage response, suggesting a potential mechanism for their dysfunction.
PROGRESS IN NEUROBIOLOGY
(2023)
Article
Health Care Sciences & Services
Maria Chorozoglou, Isabel Reading, Simon Eaton, Shehryer Naqvi, Caroline Pardy, Keren Sloan, Christina Major, Natasha Demellweek, Nigel J. Hall
Summary: We conducted a health economic sub-study to compare the non-operative treatment pathway with surgery for uncomplicated acute appendicitis in children. Our objectives were to assess data collection tools and methods, determine indicative costs and benefits, and evaluate the feasibility of conducting a full economic evaluation.
QUALITY OF LIFE RESEARCH
(2023)
Article
Pediatrics
Matteo Busti, Angelo Zarfati, Laura Valfre, Andrea Conforti, Pietro Bagolan
Summary: This study aimed to assess the long-term pulmonary and orthopaedic outcomes of surgically treated CCAML in newborns, infants, and toddlers. Despite pulmonary symptoms and musculoskeletal sequelae, patients operated for CCAML had good overall outcomes. A structured multidisciplinary follow-up is necessary to manage these issues.
EUROPEAN JOURNAL OF PEDIATRIC SURGERY
(2023)
Review
Pediatrics
Florian Friedmacher, Udo Rolle
Summary: Interstitial cells of Cajal (ICCs) are pacemaker cells in the gastrointestinal tract that control motility by generating slow waves and inducing contractions. Traditionally, ICCs have been identified using the c-kit marker, but anoctamin-1 is now recognized as a more specific marker. This article provides an overview of ICCs' origin, distribution, and functions, and discusses various pediatric disorders involving ICC dysfunction.
PEDIATRIC SURGERY INTERNATIONAL
(2023)
Article
Pediatrics
Florian Friedmacher
Summary: The operative management of long-gap esophageal atresia (LGEA) is challenging due to its rarity and complexity. Efforts should be made to preserve the native esophagus, and the preferred treatment option is the creation of an initial gastrostomy followed by delayed primary anastomosis. This article provides an update on the technique, challenges, and long-term outcomes of this approach.
PEDIATRIC SURGERY INTERNATIONAL
(2023)