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Frontiers of Medicine 2024年第1期18卷 180-191页

作者： Fang Wang Yuxing Liu Yi Dong Meifang Zhao Hao Huang Jieyuan Jin Liangliang Fan Rong Xiang department of Endocrinology The Third Xiangya Hospital of Central South UniversityChangsha410013China department of Cellular Biology School of Life SciencesKey Laboratory of Pediatric Rare DiseasesMinistry of EducationCentral South UniversityChangsha410013China

Lipin proteins including Lipin 1–3 act as transcriptional co-activators and phosphatidic acid phosphohydrolase enzymes,which play crucial roles in lipid ***,little is known about the function of Lipin3 in triglyceride(TG)***,we identified a novel mutation(NM_001301860:p.1835A>T/p.D612V)of Lipin3 in a large family with hypertriglyceridemia(HTG)and obesity through whole-exome sequencing and Sanger *** studies revealed that the novel variant altered the half-life and stability of the Lipin3 ***,we generated Lipin3 heterozygous knockout(Lipin3-heKO)mice and cultured primary hepatocytes to explore the pathophysiological roles of Lipin3 in TG *** found that Lipin3-heKO mice exhibited obvious obesity,HTG,and non-alcoholic fatty liver *** study demonstrated that the haploinsufficiency of Lipin3 in primary hepatocytes may induce the overexpression and abnormal distribution of Lipin1 in cytosol and *** increased expression of Lipin1 in cytosol may contribute to TG anabolism,and the decreased Lipin1 in nucleoplasm can reduce PGC1α,further leading to mitochondrial dysfunction and reduced TG *** study suggested that Lipin3 was a novel disease-causing gene inducing obesity and *** also established a relationship between Lipin3 and mitochondrial dysfunction.

关键词： Lipin3 Lipin1 hypertriglyceridemia obesity mitochondrial dysfunction

Clinicopathological characteristics and typing of multilocular cystic renal neoplasm of low malignant potential

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World Journal of Clinical Cases 2024年第14期12卷 2332-2341页

作者： Wen-Long Gao Gang Li Dong-Sheng Zhu Yuan-Jie Niu department of Urology The Second Hospital of Tianjin Medical UniversityTianjin 300211China department of pediatric Surgery The First People’s Hospital of LianyungangLianyungang 222000Jiangsu ProvinceChina

BACKGROUND Up until now,no research has been reported on the association between the cli-nical growth rate of multilocular cystic renal neoplasm of low malignant potential(MCRNLMP)and computed tomography(CT)imaging *** study sought to examine the correlation between them,with the objective of distin-guishing unique features of MCRNLMP from renal cysts and exploring effective management *** To investigate optimal management strategies of *** We retrospectively collected and analyzed data from 1520 patients,comprising 1444 with renal cysts and 76 with MCRNLMP,who underwent renal cyst decom-pression,radical nephrectomy,or nephron-sparing surgery for renal cystic disease between January 2013 and December 2021 at our *** of MC-RNLMP utilized the Bosniak classification for imaging and the 2016 World Health Organization criteria for clinical *** Our meticulous exploration has revealed compelling findings on the occurrence of ***,it comprises 1.48%of all cases involving simple renal cysts,5.26%of those with complex renal cysts,and a noteworthy 12.11%of renal tumors coexisting with renal cysts,indicating a statistically significant difference(P=0.001).Moreover,MCRNLMP constituted a significant 22.37%of the patient po-pulation whose cysts demonstrated a rapid growth rate of≥2.0 cm/year,whereas it only represented 0.66%among those with a growth rate below 2.0 cm/*** the 76 MCRNLMP cases studied,none of the nine patients who underwent subsequent nephron-sparing surgery or radical nephrectomy following renal cyst decompression experienced recurrence or *** the remaining 67 patients,who were actively monitored over a 3-year postoperative period,only one showed suspicious recurrence on CT *** MCRNLMP can be tentatively identified and categorized into three types based on CT scanning and growth rate *** treating MCRNLMP,partial nephrectomy is preferred,while rad

关键词： Renal cysts Multilocular cystic renal neoplasm of low malignant potential Computed tomography Diagnosis Treatment

From the mathematical model to the patient: The scientific and human aspects of artificial intelligence in gastrointestinal surgery

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World Journal of Gastrointestinal Surgery 2024年第6期16卷 1517-1520页

作者： Javier Arredondo Montero department of pediatric Surgery Complejo Asistencial Universitario de LeónCastilla y LeónLeón 24008Spain

Recent medical literature shows that the application of artificial intelligence(AI)models in gastrointestinal pathology is an exponentially growing field,with pro-mising models that show very high *** inflammatory bowel disease(IBD),recent reviews demonstrate promising diagnostic and prognostic AI ***,studies are generally at high risk of bias(especially in AI models that are image-based).The creation of specific AI models that improve diagnostic performance and allow the establishment of a general prognostic fo-recast in IBD is of great interest,as it may allow the stratification of patients into subgroups and,in turn,allow the creation of different diagnostic and therapeutic protocols for these *** surgical models,predictive models of post-operative complications have shown great potential in large-scale *** this work,the authors present the development of a predictive algorithm for early post-surgical complications in Crohn's disease based on a Random Forest model with exceptional predictive ability for complications within the *** pre-sent work,based on logical and reasoned,clinical,and applicable aspects,lays a solid foundation for future prospective work to further develop post-surgical prognostic tools for *** next step is to develop in a prospective and mul-ticenter way,a collaborative path to optimize this line of research and make it applicable to our patients.

关键词： Survivor bias Data analysis Machine learning Ethics Critical thinking Postsurgical Complications Inflammatory bowel disease Gastrointestinal surgery

Chemotherapy-induced small extracellular vesicles prime the pre-metastatic niche to accelerate neuroblastoma metastasis

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Genes & Diseases 2024年第4期11卷 65-68页

作者： Carson A.Wills Xiaoming Liu Longgui Chen Yuanjun Zhao Zhenqiu Liu Vladimir S.Spiegelman Jeffrey Sundstrom Hong-Gang Wang department of pediatrics Division of Pediatric Hematology and OncologyThe Pennsylvania State University Collegeof MedicinePA 17033USA department of Ophthalmology The Pennsylvania State University College of MedicinePA 17033USA department of Public Health Sciences The Pennsylvania StateUniversityCollegeofMedicinePA 17033USA

Neuroblastoma is the most common extracranial solid tumor in children,accounting for more than 10%of cancerrelated deaths in this *** standard of care for patients diagnosed with medium-to high-risk neuroblastoma,incl... 详细信息

关键词： neuroblastoma metastatic metastasis

A multicenter prospective study on the management of hepatoblastoma in children:a report from the Chinese Children's Cancer Group

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World Journal of pediatrics 2024年第6期20卷 590-601页

作者： Meng-Jie Tang Xiao-Li Ma Xiang-Ling He Wei-Hua Pan Xiao-Hong Zhang Sha-Yi Jiang Ju Gao Fu Li Wei Yao Song Gu Wei-Ling Zhang Qiang Zhao Shi-Hao Huang Yong-Jun Fang Wei Liu Hui-Zhong Niu Chun-Mei Wang Li-Rong Sun Hui Gao Yun-Peng Dai Shun-Gen Huang Zhi-Yong Zhong Xi-Ge Wang Zhong-Rong Li Liang-Chun Yang Ye-Ming Wu Huan-Min Wang Xin Sun Xiao-Jun Yuan department of pediatric Hematology/Oncology Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of MedicineNo.1665Kongjiang RoadYangpu DistrictShanghai 200092China Medical Oncology department Pediatric Oncology CenterBeijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijing 100045China department of Hematology/Oncology Children's Medical CenterHunan Provincial People's HospitalThe First Affiliated Hospital of Hunan Normal UniversityChangsha 41005China department of pediatric Surgery Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of MedicineShanghai 200092China department of Hematology/Oncology Guangzhou Women and Children's Medical CenterNational Children's Medical Center for South Central RegionGuangzhou 510623China department of Hematology Shanghai Children's HospitalShanghai Jiao Tong UniversityShanghai 200062China department of pediatrics West China Second University HospitalSichuan UniversityChengdu 610041China department of Hematology/Oncology Qilu Children's Hospital of Shandong UniversityJinan 250022China department of pediatric Surgery Children's Hospital of Fudan UniversityShanghai 201102China department of General Surgery Shanghai Children's Medical Center(National Children's Medical Center-Shanghai)Shanghai Jiao Tong University School of MedicineShanghai 200127China department of pediatrics Beijing Tongren HospitalCapital Medical UniversityBeijing 100730China department of pediatric Oncology Tianjin Medical University Cancer Institute and HospitalTianjin 300060China department of Hematology/Oncology Children's Hospital of Nanjing Medical UniversityNanjing 210008China department of Hematology/Oncology Henan Children's HospitalZhengzhou 450018China department of pediatric General Surgery Hebei Children's Hospital of Hebei Medical UniversityShijiazhuang City 050031China Children's Hospital the First Affliated Hospital of Zhengzhou UniversityZhengzhou 450052China department of Paediatric

Background This study aimed to identify survival risk factors in Chinese children with hepatoblastoma(HB)and assess the effectiveness of the new treatment protocol proposed by the Chinese Children's Cancer Group(CCCG)in *** A multicenter,prospective study that included 399 patients with HB from January 2015 to June 2020 was *** demographics,treatment protocols,and other related information were *** regression models and Kaplan-Meier curve methods were *** The 4-year event-free survival(EFS)and overall survival(OS)were 76.9 and 93.5%,*** 4-year EFS rates for the very-low-risk,low-risk,intermediate-risk,and high-risk groups were 100%,91.6%,81.7%,and 51.0%,*** 4-year 0S was 100%,97.3%,94.4%,and 86.8%,*** regression analysis found that age,tumor rupture(R+),and extrahepatic tumor extension(E+)were independent prognostic factors.A total of 299 patients had complete remission,and 19 *** with declining alpha-fetoprotein(AFP)>75%after the first two cycles of neoadjuvant chemotherapy had a better EFS and OS than those≤75%.Conclusions The survival outcome of HB children has dramatically improved since the implementation of CCCG-HB-2016 ***≥8 years,R+,and E+were independent risk factors for *** with a declining AFP>75%after the first two cycles of neoadjuvant chemotherapy had better EFS and OS.

关键词： Alpha-fetoprotein Hepatoblastoma Multicenter Prospective study Survival

Glanzmann Thrombasthenia: Managing Gingival Bleeding Triggered by Tooth Eruption—A Rare Case Report

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Case Reports in Clinical Medicine 2024年第8期13卷 283-291页

作者： Nahla A. Abdulrahman Motaz A. Atia Nada A. Abdelwahab Malaz M. Mustafa department of pediatric Dentistry University of Khartoum Khartoum Sudan department of pediatric Dentistry National Ribat University Khartoum Sudan department of pediatric Dentistry and Orthodontic Sciences King Khalid University Abha Saudi Arabia

Glanzmann thrombasthenia (GT) is a rare and often underdiagnosed congenital bleeding disorder caused by mutations in the genes encoding glycoproteins GPIIb or GPIIIa, resulting in platelet dysfunction. Inherited in an autosomal recessive manner, GT is characterized by the inability of platelets to aggregate. Clinically, it presents with mucocutaneous bleeding, such as easy and extensive bruising, severe epistaxis, menorrhagia, gingival bleeding, postpartum hemorrhage, and unexpected bleeding following procedures, despite a normal platelet count. We present a case involving a 6-year-old male patient who experienced spontaneous gingival bleeding for the past 4 weeks due to the eruption of his first permanent molars. The bleeding was particularly severe at night, disrupting the child’s sleep. The patient had been diagnosed with GT at the age of 16 months. Dental management was pursued, and the use of tranexamic acid mouthwash, combined with meticulous oral hygiene, resulted in an excellent response.

关键词： Glanzmann Thrombasthenia Bleeding Tranexamic Acid Epistaxis Platelet Aggregation

Epidemiological, Diagnostic, Therapeutic and Progressive Aspects of Arterial Hypertension in Children at the University Hospital Center of Bouaké (Côte d’Ivoire)

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Open Journal of pediatrics 2024年第2期14卷 379-390页

作者： Richard Azagoh-Kouadio Yao Kossonou Roland Yeboua Kouassi Christian Yao John Patrick Yenan Iburaima Alamun Akanji Kouadio Vincent Assé pediatric department of Angré University Hospital Abidjan Ivory Coast pediatric department of Bouaké University Hospital Bouaké Ivory Coast

Introduction: Arterial hypertension (AH) in children is under-diagnosed and often has a poor prognosis. The aim of this study was to describe the epidemiological, diagnostic, therapeutic and evolutionary aspects of hypertension in children at the University Hospital of Bouaké, with a view to improving the prognosis. Methods: This was a cross-sectional, analytical study carried out in the paediatrics department of Bouaké University Hospital. It concerned the medical records of children aged 4 to 15 hospitalised from 1 January 2017 to 31 December 2020 for hypertension. Diagnosis was based on the simplified blood pressure guidelines of the Expert Consensus of the French Society of Hypertension. The variables studied were epidemiological, diagnostic, therapeutic and evolutionary. Quantitative variables were compared at the significance level p ≤ 0.05. Results: The hospital incidence of hypertension was 0.32% (69/21,642). The sex ratio was 0.72. 97.1% of the children were over five years of age. Oedema (49.3%) and breathing difficulties (20.2%) were the main reasons for consultation. Hypertension was classified as threatening (56.5%), confirmed (31.9%) and borderline (11.6%). The cause was renal in 66.7%, dominated by impure nephrotic syndrome (24.6%). Treatment for hypertension consisted mainly of a diuretic (79.7%) and a calcium channel blocker (47.8%). Outcome was favourable in 50.7% of cases. Mortality was 20.3%. No factor was significantly associated with death. Conclusion: Hypertension in children at Bouaké University Hospital is serious. The aetiology is mainly renal. Early diagnosis and management are key to improving prognosis.

关键词： Hypertension Children Renal Pathologies Prognosis Côte d’Ivoire

Insights on ZEB1-AS1: emerging role from cancer to neurodegeneration

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Neural Regeneration Research 2024年第6期19卷 1187-1188页

作者： Stephana Carelli Federica Rey Erika Maghraby Cristina Cereda pediatric Research Center “Romeo ed Enrica Invernizzi” Department of Biomedical and Clinical Sciences University of Milan 2. Center of Functional Genomics and Rare Diseases Department of Pediatrics Buzzi Children's Hospital department of Biology and Biotechnology “L.Spallanzani” University of Pavia

Implications for lncRNAs in the central nervous system: Transcriptional dysregulation is a key contributor to the pathogenesis of a wide range of diseases and long non-coding RNAs(lncRNAs) are highly expressed in the nervous system. Indeed, amongst the over 50,000 lncRNAs expressed in the human genome, more than 40% are specifically expressed in the brain where their roles in brain development, neuron functions, maintenance,

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Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report

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World Journal of Clinical Cases 2024年第14期12卷 2445-2450页

作者： Jing Yuan Xiang-Ming Yan department of pediatric Children’s Hospital of Soochow UniversitySuzhou 215025Jiangsu ProvinceChina department of Surgery Children's Hospital of Soochow UniversitySuzhou 215000Jiangsu ProvinceChina

BACKGROUND We report a rare case of primary clinical presentation featuring elevated creatine kinase(CK)levels in a neonate,which is associated with the LAMA2 *** this case,a heterozygous mutation in exon5 of the LAMA2 gene,c.715C>G(resulting in a change of nucleotide number 715 in the coding region from cytosine to gua-nine),induced an amino acid alteration p.R239G(No.239)in the patient,repre-senting a missense *** observation may be elucidated by the neonatal creatine monitoring mechanism,a phenomenon not previously *** SUMMARY We analysed the case of a neonate presenting solely with elevated CK levels who was eventually discharged after supportive *** chief complaint was identification of increased CK levels for 15 d and higher CK values for 1 ***-mission occurred at 18 d of age,and despite prolonged treatment with creatine and vitamin C,the elevated CK levels showed limited *** exo-me sequencing revealed the presence of a c.715C>G mutation in LAMA2 in the newborn,correlating with a clinical ***,the available informa-tion offers insufficient evidence for clinical *** Mutations in LAMA2 are associated with the clinical phenotype of increased neonatal CK levels,for which no specific treatment *** genome sequen-cing facilitates early diagnosis.

关键词： Creatine kinase LAMA2 Gene mutation Neonate Case report

A 63-Year-Old Male with D-Transposition of the Great Arteries Who Had an Early Form of the Arterial Switch Operation

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Congenital Heart Disease 2024年第1期19卷 65-68页

作者： Michael A.Rebolledo Jane S.Yao Jason N.Johnson Umar S.Boston Benjamin R.Waller III Division of pediatric Cardiology Department of PediatricsThe University of Tennessee Health Science CenterThe Heart InstituteLe Bonheur Children’s HospitalMemphisUSA College of Medicine The University of Tennessee Health ScienceMemphisUSA Division of pediatric Cardiothoracic Surgery Department of SurgeryThe University of Tennessee Health Science CenterHeart InstituteLe Bonheur Children’s HospitalMemphisUSA

We describe a 63-year-old male who appears to have undergone an early form of the arterial switch operation for D-transposition of the great arteries performed in the *** review the clinical and imaging data that support our *** had a diagnostic cardiac catheterization which demonstrated severe pulmonary hypertension responsive to epoprostenol and *** case may represent one example of the experimental surgical work done prior to *** Jatene’s description of theﬁrst successful arterial switch performed in 1975.

关键词： Adult congenital heart disease arterial switch operation great vessel anomaly imaging(all modalities)