Article
Medicine, General & Internal
Bingtong Wang, Yongxuan Yao, Wenlin Fang, Yanqing Liu, Wei Zhong, Ye He, Yulu Lai, Qiuming He, Yun Zhu, Chaoting Lan
Summary: ssDNA antibodies in plasma can serve as a diagnostic biomarker for HSCR in the clinic.
FRONTIERS IN MEDICINE
(2022)
Article
Pediatrics
Chaoting Lan, Yanqing Liu, Xiao Wu, Bingtong Wang, Songqing Xin, Qiuming He, Wei Zhong, Zipeng Liu
Summary: The study found no significant association between ECE1 rs169884 and HSCR in the southern Chinese population, but it may increase the risk of L-HSCR.
FRONTIERS IN PEDIATRICS
(2022)
Article
Pediatrics
Shun-Gen Huang, Yuan Cheng, Dashuang Li, Chao Sun, Fang Fang, Wan-Liang Guo
Summary: The study identified dysregulated circRNAs in HSCR and constructed a circRNA-miRNA-mRNA network to reveal their potential roles as molecular sponges targeting miRNAs and mRNAs in the disorder. This comprehensive analysis may provide valuable insights for improving the diagnosis and therapy of HSCR.
TRANSLATIONAL PEDIATRICS
(2022)
Review
Medicine, General & Internal
Clara Carnicer-Caceres, Jose Antonio Arranz-Amo, Cristina Cea-Arestin, Maria Camprodon-Gomez, David Moreno-Martinez, Sara Lucas-Del-Pozo, Marc Molto-Abad, Ariadna Tigri-Santina, Irene Agraz-Pamplona, Jose F. Rodriguez-Palomares, Jorge Hernandez-Vara, Mar Armengol-Bellapart, Mireia del-Toro-Riera, Guillem Pintos-Morell
Summary: Fabry disease is a lysosomal storage disorder caused by mutations in the GLA gene, leading to gradual accumulation of globotriaosylceramide in different tissues, which can induce multiorgan lesions, especially in the kidney, heart, and nervous system. Enzyme replacement therapy can delay disease progression, but early diagnosis remains a clinical challenge, prompting the search for biomarkers to detect and predict disease evolution.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Pediatrics
Ning Wang, Jiaojiao Xi, Chaoting Lan, Yuxin Wu, Yun Zhu, Xiaoyu Zuo, Yan Zhang
Summary: This study investigated the association of genetic variants in IKBKAP with HSCR susceptibility in southern Chinese children and identified rs2275630 as a susceptibility locus, especially in TCA patients. This finding suggests that IKBKAP rs2275630 is a susceptibility gene of HSCR.
TRANSLATIONAL PEDIATRICS
(2022)
Article
Computer Science, Artificial Intelligence
Joao Paulo Folador, Marcus Fraga Vieira, Adriano Alves Pereira, Adriano de Oliveira Andrade
Summary: Parkinson's disease is a neurodegenerative condition affecting 1% of people over 60 globally, and remains incurable. A study proposed the development of an integrated system, SIDABI, to manage biomedical data collected from PD patients. The system demonstrated good usability, helping researchers organize data, aid in patient follow-ups, train professionals, and find hidden correlations in data.
PEERJ COMPUTER SCIENCE
(2021)
Article
Engineering, Manufacturing
Zlatana Nenova, Jennifer Shang
Summary: Managing patients with chronic conditions poses challenges as it requires timely adjustments in care. Utilizing big data to optimize patient monitoring frequencies can enhance treatment. The proposed integrated model aims to better serve patients with chronic kidney disease by identifying optimal follow-up appointment schedules.
PRODUCTION AND OPERATIONS MANAGEMENT
(2022)
Article
Medical Laboratory Technology
Yanqing Liu, Chaoting Lan, Bingxiao Li, Ning Wang, Xiaoyu Zuo, Lihua Huang, Yuxin Wu, Yun Zhu
Summary: By genotyping, it was found that the rs2054675 and rs707265 single-nucleotide polymorphisms of the CYP2B6 gene are associated with increased susceptibility to the severe HSCR subtype in southern Chinese children.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Nutrition & Dietetics
Gloria Galli, Giulia Amici, Laura Conti, Edith Lahner, Bruno Annibale, Marilia Carabotti
Summary: This study investigated gender differences in adult patients with coeliac disease (CD) at diagnosis and after starting a gluten-free diet (GFD). It was found that female patients had more signs of malabsorption, longer duration of symptoms before diagnosis, and gastrointestinal symptoms such as heartburn, dyspepsia, nausea/vomit, and constipation at diagnosis compared to male patients. However, these gender differences mostly disappeared after 12-30 months of follow-up, indicating that they can be resolved over time.
Article
Pediatrics
Jixin Yang, Tianqi Zhu, Xiaojuan Wu, Mingfa Wei, Guo Wang, Jiexiong Feng
Summary: Colonoscopy is a safe, accurate, and timely examination for postoperative lower gastrointestinal bleeding in children with Hirschsprung's Disease. It helps diagnose the causes of hematochezia and provides accurate treatment options. All patients had uneventful recovery during the follow-up period, demonstrating the efficacy of colonoscopy in this subset of patients.
FRONTIERS IN PEDIATRICS
(2021)
Review
Geriatrics & Gerontology
Kevin R. Keene, Hermien E. Kan, Stijn van der Meeren, Berit M. Verbist, Martijn R. Tannemaat, Jan-Willem M. Beenakker, Jan J. G. M. Verschuuren
Summary: Ophthalmoparesis and ptosis can be caused by various diseases, and clinical symptoms, EOM involvement patterns, and orbital imaging can provide valuable diagnostic information.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2022)
Article
Gastroenterology & Hepatology
Sara Lemoinne, Alexandra Heurgue, Charlotte Bouzbib, Bertrand Hanslik, Jerome Gournay, Eric Nguyen-Khac, Christophe Bureau, Victor de Ledinghen, Nathalie Ganne-Carrie, Marc Bourliere
Summary: Autoimmune hepatitis (AIH) is a liver disease characterized by necro-inflammatory lesions of hepatocytes, specific autoantibodies, and response to corticosteroid treatment. The diagnosis is based on a combination of clinical, biological, immunological, and histological findings, after excluding other causes of liver disease. Non-invasive tests can be used at different steps in the management of AIH for diagnosis and follow-up.
CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY
(2022)
Article
Oncology
S. J. Strauss, A. M. Frezza, N. Abecassis, J. Bajpai, S. Bauer, R. Biagini, S. Bielack, J. Y. Blay, S. Bolle, S. Bonvalot, I Boukovinas, J. V. M. G. Bovee, K. Boye, B. Brennan, T. Brodowicz, A. Buonadonna, E. de Alava, A. P. Dei Tos, X. Garcia Del Muro, A. Dufresne, M. Eriksson, F. Fagioli, A. Fedenko, V Ferraresi, A. Ferrari, N. Gaspar, S. Gasperoni, H. Gelderblom, F. Gouin, G. Grignani, A. Gronchi, R. Haas, A. B. Hassan, S. Hecker-Nolting, N. Hindi, P. Hohenberger, H. Joensuu, R. L. Jones, C. Jungels, P. Jutte, L. Kager, B. Kasper, A. Kawai, K. Kopeckova, D. A. Krakorova, A. Le Cesne, F. Le Grange, E. Legius, A. Leithner, A. Lopez Pousa, J. Martin-Broto, O. Merimsky, C. Messiou, A. B. Miah, O. Mir, M. Montemurro, B. Morland, C. Morosi, E. Palmerini, M. A. Pantaleo, R. Piana, S. Piperno-Neumann, P. Reichardt, P. Rutkowski, A. A. Safwat, C. Sangalli, M. Sbaraglia, S. Scheipl, P. Schoffski, S. Sleijfer, D. Strauss, K. Sundby Hall, A. Trama, M. Unk, M. A. J. van de Sande, W. T. A. van der Graaf, W. J. van Houdt, T. Frebourg, R. Ladenstein, P. G. Casali, S. Stacchiotti
Summary: The paragraph lists the names of various researchers, possibly in the author list of a research paper.
ANNALS OF ONCOLOGY
(2021)
Review
Acoustics
Miquel Just-Sarobe, Anna Sanchez-Puigdollers, Nerea Mohino-Farre, Clara Martin-Callizo, Josep A. Pujol-Montcusi, Laia Pastor-Jane
Summary: Extramammary Paget disease (EMPD) is a rare skin tumor that mainly presents as poorly delimited lesions in the genital area. Histopathological study is the gold standard for diagnosis, but it is invasive and limited in its scope. Ultrasound examination shows good correlation with histopathologic findings and offers advantages of wide availability, noninvasiveness, low cost, ease of use, and real-time scanning.
JOURNAL OF ULTRASOUND IN MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Amy Roach, Alfredo Trento, Dominic Emerson, George Gill, Georgina Rowe, Achille Peiris, Asma Hussaini, Wen Cheng, Danny Ramzy, Natalia Egorova, Joanna Chikwe
Summary: This study evaluated outcomes of a standardized mitral repair technique, showing satisfactory results for patients with posterior leaflet prolapse. However, patients with anterior or bileaflet prolapse had higher risk of complex repairs and inferior durability. Identifying prolapse type preoperatively is valuable for optimizing treatment outcomes.
ANNALS OF THORACIC SURGERY
(2022)
Article
Peripheral Vascular Disease
Filippo Ghidini, Costanza Tognon, Giovanna Verlato, Miriam Duci, Marina Andreetta, Francesco Fascetti Leon, Piergiorgio Gamba
Summary: The survival of tunneled central venous catheters (CVC) in children with short bowel syndrome is influenced by factors including age at insertion, CVC diameter, and occurrence of complications. CVC-related complications have a negative impact on the survival of the line, while older age at insertion and larger CVC diameter contribute to increased survival.
JOURNAL OF VASCULAR ACCESS
(2023)
Article
Pediatrics
Filippo Ghidini, Francesco Fascetti Leon, Federica De Corti, Davide Meneghesso, Germana Longo, Alberto Sgro, Stefania Michelon, Salvatore Metrangolo, Luisa Meneghini, Marco Castagnetti, Elisa Benetti, Piergiorgio Gamba, Patrizia Dall'Igna
Summary: This study investigated the impact of complex bench surgery on the outcomes of pediatric kidney transplantation. The results showed that complex bench surgery did not compromise graft survival or increase the risk of vascular complications.
EUROPEAN JOURNAL OF PEDIATRIC SURGERY
(2023)
Review
Pediatrics
Yong Chen, Jiashen Zhao, Mashriq Alganabi, Carmen Mesas-Burgos, Simon Eaton, Tomas Wester, Agostino Pierro
Summary: This study aimed to investigate the optimal timing of delivery for pregnancies complicated by prenatally diagnosed gastroschisis. The results suggest that near-term elective delivery (GA 36-37 weeks) is associated with less bowel morbidity and shorter TPN days. However, more research is needed to validate these findings.
EUROPEAN JOURNAL OF PEDIATRIC SURGERY
(2023)
Article
Pediatrics
Andrea Schmedding, Martin Hutter, Stefan Gfroerer, Udo Rolle
Summary: Colonic atresia (CA) can be classified into primary CA and CA with abdominal wall defects (AWD). Patients with AWD have higher rates of prematurity compared to primary CA. While short-term outcomes for CA patients are generally excellent, long-term outcomes are influenced by factors such as need for gastrostomy and presence of short bowel.
EUROPEAN JOURNAL OF PEDIATRIC SURGERY
(2023)
Article
Pediatrics
Lisa Ortqvist, Gundela Holmdahl, Helena Borg, Kristine Bjornland, Helene Lilja, Pernilla Stenstrom, Niels Qvist, Trine Saether Hagen, Mikko Pakarinen, Tomas Wester, Risto Rintala
Summary: The study found that most patients with cloacal malformations had good urinary control and normal urine voiding function. Few patients experienced social problems or negative impacts on health-related quality of life, but further research is needed to explore specific circumstances.
JOURNAL OF PEDIATRIC SURGERY
(2023)
Article
Pediatrics
Anna Fogelstrom, Cecilia Caldeman, Tomas Wester, Anna Lof Granstrom, Carmen Mesas Burgos
Summary: The study found a low prevalence of BWS among children born with omphalocele, and so far, there have been no cases of embryonal tumors detected. In the control group, no cases of BWS were found, but 3 cases developed embryonal tumors.
JOURNAL OF PEDIATRIC SURGERY
(2023)
Article
Pediatrics
Camilla Pagliara, Elisa Zambaiti, Giulia Brooks, Luca Bonadies, Costanza Tognon, Sabrina Salvadori, Alberto Sgro, Francesco Fascetti Leon
Summary: The study aims to analyze the prognostic factors and identify further prognostic factors in CDH patients. The outcomes of mortality and length of hospital stay are associated with the size of diaphragmatic defects, need for patch repair, and presence of spleen-up. The need for patch repair and maximum dopamine dose for cardiac dysfunction are independent parameters associated with the length of stay.
Article
Behavioral Sciences
Giulia Melinda Furlanis, Francesco Fascetti Leon, Nicola Bresolin, Jacopo Favaro, Valentina Baro, Alberto D'Amico, Luca Denaro, Stefano Sartori, Andrea Landi
Summary: This article introduces a new aesthetic implantation method for the VNS generator in children and young patients. The transaxillary subpectoral placement provides several benefits and has no significant complications during surgery. Patients and their families are highly satisfied with the surgical outcomes.
EPILEPSY & BEHAVIOR
(2023)
Article
Pediatrics
Judith Lindert, Udo Rolle, Gerlin Naidoo
Summary: The study revealed varying degrees of POCUS use in pediatric surgery across Europe, with most initial ultrasounds for acute admissions performed by radiologists. Training in POCUS is informal for over half of participants, and the main barriers to its use are identified as a lack of training opportunities and portable ultrasound machines.
EUROPEAN JOURNAL OF PEDIATRIC SURGERY
(2023)
Review
Cell & Tissue Engineering
Miriam Duci, Ludovica De Cesare, Agner Henrique Dorigo Hochuli, Maurizio Muraca, Mara Cananzi, Piergiorgio Gamba, Francesco Fascetti-Leon, Michela Pozzobon
Summary: This review highlights the crucial role of intestinal epithelium in the development of NEC and IBD. Various in vitro, ex vivo, and animal models are discussed for studying epithelial injury in these disorders. Despite advancements in early recognition and aggressive treatment, there is still no proven therapy to effectively reduce the severity of NEC and IBD. The burden of these diseases on individuals and society is significant, necessitating the exploration of alternative therapeutic options.
Article
Medicine, General & Internal
Robert A. J. Gorzolla, Udo Rolle, Thomas J. Vogl
Summary: The study aimed to evaluate the effects of stress on cartilage volume in the ankle joint and compare the image quality of 1.5 Tesla and 3.0 Tesla MRI devices. The results showed no significant difference in cartilage volume among high-intensity athletes, non-high-intensity athletes, and nonathletes. However, the 3.0 Tesla device had significant advantages in image quality compared to the 1.5 Tesla device.
Article
Sport Sciences
Morten Carstens Moe, Emin Ozmert, Christophe Baudouin, Abhinav Binadra, Sven Crafoord, Young Jo, Hayyam Kiratli, Melita Moore, Yannis P. Pitsiladis, Udo Rolle, Ben Tan, Ozge Yanik, Richard Budgett, Ugur Erdener, Kathrin Steffen, Lars Engbretsen
Summary: Vision plays a crucial role in athletes' success, with 80% of perceptual input being visual. Eye health and sports medicine are closely intertwined, as the physical nature of sports makes athletes more prone to eye injuries. In addition to injuries, vision problems such as blurred vision and light sensitivity can also affect athletes' performance. Collaboration between sports medicine professionals and ophthalmologists is necessary to provide athletes with appropriate eye care and guidance on eye protection.
BMJ OPEN SPORT & EXERCISE MEDICINE
(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)
Letter
Surgery
Barbora Patkova, Anna Svenningsson, Markus Almstroem, Jan F. Svensson, Staffan Eriksson, Tomas Wester, Simon Eaton
Review
Pediatrics
Soma Jumah, Tomas Wester
Summary: This review examines the recent research on conservative treatment of acute appendicitis, particularly in children. Some studies have reported the potential safety and efficacy of non-operative treatment for acute appendicitis, challenging the notion that all cases progress to perforation. However, the lack of randomized controlled studies limits the evidence, and further research is needed to determine the role of non-operative management in children.
PEDIATRIC SURGERY INTERNATIONAL
(2023)