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Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severeβ-ketothiolase deficiency:A case report

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World Journal of Clinical Cases 2021年第30期9卷 9276-9284页

作者： Jun Guo Dan Ren Zhong-Jie Guo Jing Yu Fu Liu Rong-Xiang Zhao Yu Wang Department of Paediatrics Mianyang Central HospitalSchool of MedicineUniversity of Electronic Science and Technology of ChinaMianyang 621000Sichuan ProvinceChina Department of Medical Image Mianyang Central HospitalSchool of MedicineUniversity of Electronic Science and Technology of ChinaMianyang 621000Sichuan ProvinceChina Department of Pharmacy Mianyang Central HospitalSchool of MedicineUniversity of Electronic Science and Technology of ChinaMianyang 621000Sichuan ProvinceChina

BACKGROUNDβ-ketothiolase deficiency(β-KTD)is an inherited disease,and insufficient attention has been paid to imageology due to its lower ***,few lesions outside the basal ganglia have been found before,and the persistent pathological changes have rarely been *** SUMMARY A 10-mo-old Chinese female patient with a free previous medical history but with poor physical and athletic development had received the haemophilus influenzae vaccine and then developed a low fever 2 d *** was initially diagnosed with severe brain injury,central respiratory failure,metabolic acidosis complicated with respiratory alkalosis,hyper-IgE,*** further examination,a definite diagnosis ofβ-KTD was *** treatment was *** days later,the dyspnea was improved evidently and the ventilator was removed,but there were still obvious abnormalities on magnetic resonance imaging(MRI).The lesions mainly invaded the corpus striatum but were not limited to the basal ***,the patient’s disease improved and discharged approximately 1 mo later,and the abnormal lesions on MRI had partially ***,for about 1 year,the residual irreversible lesions were observed on MRI,the mental and physical development of the patient was obviously regressive,and extra rehabilitation training was *** The case highlights the critical importance of one view that the range of lesions in some patients may be more extensive than previously thought in someβ-KTD *** addition to biochemical tests,genetic tests and magnetic resonance imaging are not only conducive to quickly diagnosingβ-KTD but also to partially evaluating the short-and long-term ***,more attention should be paid to the two mutations(c.478 C>G;c.951 C>T)that may be associated with severeβ-KTD.

关键词： Life-threatening symptoms Severeβ-ketothiolase deficiency Lesions outside of the basal ganglia Irreversible damage to the basal ganglia Magnetic resonance imaging New mutation Case report

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Guillain-Barrésyndrome and hemophagocytic syndrome heralding the diagnosis of diffuse large B cell lymphoma:A case report

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World Journal of Clinical Cases 2022年第26期10卷 9502-9509页

作者： Qiao-Lin Zhou Zhao-Kun Li Fang Xu Xiao-Gong Liang Xing-Biao Wang Jing Su Yu-Feng Tang Department of Hematology Mianyang Central HospitalSchool of MedicineUniversity of Electronic Science and Technology of ChinaMianyang 621000Sichuan ProvinceChina Department of Neurology Mianyang Central HospitalSchool of MedicineUniversity of Electronic Science and Technology of ChinaMianyang 621000Sichuan ProvinceChina Department of General Surgery Mianyang Central HospitalSchool of MedicineUniversity of Electronic Science and Technology of ChinaMianyang 621000Sichuan ProvinceChina

BACKGROUND Central nervous system(CNS)lesions and peripheral neuropathy are rare among patients with non-Hodgkin’s lymphoma(NHL).Lymphomatous infiltration or local oppression usually accounts for CNS or peripheral nerve *** incidence of peripheral neuropathy was 5%.Guillain-Barrésyndrome(GBS)is rare and may occur in less than 0.3%of patients with *** syndrome(HPS)is a rare complication of *** has been reported that 1%of patients with hematological malignancies develop *** large B-cell lymphoma(DLBCL)combined with GBS has been reported in 10 *** SUMMARY We report the case of a 53-year-old man who was initially hospitalized because of abnormal feelings in the lower limbs and urinary *** was finally diagnosed with DLBCL combined with GBS and HPS after 16 d,which was earlier than previously *** pulse therapy,dexamethasone,and etoposide were immediately *** neurological symptoms did not improve,but cytopenia was ***,GBS-related clinical symptoms were relieved partially after one cycle of rituximab-cyclophosphamide,hydroxydaunorubicin,vincristine,and prednisone(R-CHOP)chemotherapy and disappeared after six cycles of *** GBS and HPS heralding the diagnosis of Epstein-Barr virus DLBCL are ***,we report a rare case of DLBCL combined with GBS and HPS,and share our clinical *** therapies may be effective if GBS occurs before lymphoma is *** diagnosis and treatment of DLBCL are crucial.

关键词： Diffuse large B cell lymphoma Guillain-Barrésyndrome Hemophagocytic syndrome Peripheral neuropathy Case report

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RDH12-associated retinal degeneration caused by a homozygous pathogenic variant of 146C>T and literature review

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International Journal of Ophthalmology(English edition) 2024年第2期17卷 311-316页

作者： Jin Li Yi-Qun Hu Hong-Bo Cheng Ting Wang Long-Hao Kuang Tao Huang Xiao-He Yan Shenzhen Eye hospital Jinan UniversityShenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChina

AIM:To describe the clinical,electrophysiological,and genetic features of an unusual case with an RDH12 homozygous pathogenic variant and reviewed the characteristics of the patients reported with the same ***:The patient underwent a complete ophthalmologic examination including best-corrected visual acuity,anterior segment and dilated fundus,visual field,spectral-domain optical coherence tomography(OCT)and electroretinogram(ERG).The retinal disease panel genes were sequenced through chip capture high-throughput sequencing and Sanger sequencing was used to confirm the *** we reviewed the characteristics of the patients reported with the same ***:A 30-year male presented with severe early retinal degeneration who complained night blindness,decreased visual acuity,vitreous floaters and amaurosis *** best corrected vision was 0.04 OD and 0.12 OS,*** fundus photo and OCT showed bilateral macular atrophy but larger areas of macular atrophy in the left *** shows bilateral symmetrical *** revealed that the amplitudes of a-and b-wave were severely *** ERG showed decreased amplitudes in the local macular area.A homozygous missense variant c.146C>T(chr14:68191267)was *** clinical characteristics of a total of 13 patients reported with the same pathologic variant ***:An unusual patient with a homozygous pathogenic variant in the c.146C>T of RDH12 which causes late-onset and asymmetric retinal degeneration are *** clinical manifestations of the patient with multimodal retinal imaging and functional examinations have enriched our understanding of this disease.

关键词： RDH12 gene inherited retinal degeneration homozygous pathogenic variant clinical feature multi-mode imaging

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Macrophage-derived exosomal miR-342-3p promotes the progression of renal cell carcinoma through the NEDD4L/CEP55 axis

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Oncology Research 2021年第5期29卷 331-349页

作者： JIAFU FENG BEI XU CHUNMEI DAI YAODONG WANG GANG XIE WENYU YANG BIN ZHANG XIAOHAN LI JUN WANG NHC Key Laboratory of Nuclear Technology Medical Transformation(mianyang Central hospital) Mianyang621000China Departments of Clinical Laboratory Mianyang Central HospitalSchool of MedicineUniversity of Electronic Science and Technology of ChinaMianyang621000China Medical Technology Institute Chengdu University of Traditional Chinese MedicineChengdu611137China Departments of Urology Surgery Mianyang Central HospitalSchool of MedicineUniversity of Electronic Science and Technology of ChinaMianyang621000China Departments of Pathology Mianyang Central HospitalSchool ofMedicineUniversity of Electronic Science and Technology of ChinaMianyang621000China Department of Medical Laboratory Affiliated Hospital of Southwest Medical UniversityLuzhou646000China

Due to its difﬁculty in early diagnosis and lack of sensitivity to chemotherapy and radiotherapy,renal cell carcinoma(RCC)remains to be a frequent cause of cancer-related ***,we probed into new targets for its early diagnosis and treatment for ***(miRNA)data of M2-EVs and RCC were searched on the Gene Expression Omnibus database,followed by the prediction of the potential downstream *** of target genes was measured via RT-qPCR and Western blot,respectively.M2 macrophage was obtained viaﬂow cytometry with M2-EVs *** binding ability of miR-342-3p to NEDD4L and to CEP55 ubiquitination was studied with their roles in the physical abilities of RCC cells *** tumor-bearing mouse models and lung metastasis models were prepared to observe in vivo role of target genes.M2-EVs induced RCC growth and ***-342-3p showed high expression in both M2-EVs and RCC cells.M2-EVs carrying miR-342-3p promoted RCC cell abilities to proliferate,invade and *** RCC cells,M2-EV-derived miR-342-3p could speciﬁcally bind to NEDD4L and consequently elevate CEP55 protein expression via suppressing NEDD4L,thereby exerting tumor-promoting ***55 could be degraded by ubiquitination under the function of NEDD4L,and miR-342-3p delivered by M2-EVs facilitated the RCC occurrence and development by activating the PI3K/AKT/mTOR signaling *** conclusion,M2-EVs promote RCC growth and metastasis by delivering miR-342-3p to suppress NEDD4L and subsequently inhibit CEP55 ubiquitination and degradation via activation of the PI3K/AKT/mTOR signaling pathway,strongly driving the proliferative,migratory and invasive of RCC cells.

关键词： Renal cell carcinoma M2 macrophage miR-342-3p NEDD4L CEP55 PI3K/AKT/mTOR signaling pathway

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New mechanism of partial duplication and deletion of chromosome 8:A case report

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World Journal of Clinical Cases 2021年第24期9卷 7139-7145页

作者： Yan Jiang Shuang Tang Fang He Jue-Xin Yuan Zhu Zhang Office of Prenatal Diagnosis Mianyang People’s HospitalMianyang 621000Sichuan ProvinceChina Department of Obstetrics Mianyang People’s HospitalMianyang 621000Sichuan ProvinceChina Office of Prenatal Diagnosis West China Second University HospitalSichuan UniversityChengdu 610000Sichuan ProvinceChina

BACKGROUND During meiosis,the recombination of homologous chromosomes produces some new heritable mutations,which are the basis of biological evolution and ***,when there is pericentric inversion of chromosomes,unbalanced gametes will be formed in the process of germ cell *** SUMMARY A 23-year-old pregnant woman at 25 wk of gestation wanted to terminate her pregnancy due to fetal chromosomal *** had no exposure to toxic or hazardous substances before and during pregnancy,no history of medication usage during pregnancy,and she underwent cystectomy of ovarian cysts in *** the second day of the 16th week of gestation,non-invasive prenatal testing showed chromosome 8 copy number *** genetic counseling,her pregnancy was *** Recombinant offspring chromosome is rarely seen when the inversion segment is shorter than one-third of the chromosome *** terms of the mechanism of chromosome 8 duplication/deletion occurrence,attention should be paid to the production of unbalanced gametes by the pairing of homologous chromosome during meiosis,and the possibility of mitotic recombination exchange as well.

关键词： Chromosome 8 Spontaneous mutation Mitosis Non-invasive prenatal testing Case report

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Digestive cancer incidence and mortality among young adults worldwide in 2020:A population-based study

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World Journal of Gastrointestinal Oncology 2022年第1期14卷 278-294页

作者： Jian Li Department of General Surgery The Third Hospital of MianyangThe Mental Health Center of SichuanMianyang 621000Sichuan ProvinceChina

BACKGROUND Digestive cancer has traditionally been thought of as a disease that mainly occurs in elderly individuals,and it has been ignored in young adults by both patients and *** To describe the worldwide profile of digestive cancer incidence,mortality and corresponding trends among 20–39-year-olds,with major patterns highlighted by age,sex,development level,and geographical *** I performed a population-based study to quantify the burden of young adult digestive cancers ***,regional,sex,and country-specific data estimates of the number of new cancer cases and cancer-associated deaths that occurred in 2020 were extracted from the GLOBOCAN Cancer Today *** assess long-term trends in young adult digestive cancer,cancer incidence data and mortality data were obtained from the Cancer in Five Continents Plus database and the World Health Organization mortality database,*** associations between the human development index(HDI)and digestive cancer burden in young adults were evaluated by linear regression *** In 2020,there were an estimated 19292789 new cancer cases,resulting in 9958133 deaths worldwide,which equated to an age-standardized incidence rate(ASIR)of 5.16 and age-standardized mortality rate(ASMR)of 3.04,accounting for 12.24%of all new cancer cases and 25.26%of all cancer deaths occurring in young *** burden was disproportionally greater among males,with male:female ratios of 1.34 for incidence and 1.58 for *** ASIRs were 2.1,1.4,and 1.0 per 100000 people per year,whereas the ASMRs were 0.83,1.1,and 0.62 per 100000 people per year for colorectal,liver,and gastric cancer,*** assessed by geographical region and HDI levels,the cancer profile varied substantially,and a strong positive correlation between the mortality-to-incidence ratio of digestive cancer and HDI ranking was found(R^(2)=0.7388,P<0.001).CONCLUSION The most common digestive cancer types are colorecta

关键词： Digestive cancer Incidence Mortality Young adults GLOBOCAN Mortality-to-incidence ratio

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Crystalline-magnetism action in biomimetic mineralization of calcium carbonate

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中国化学工程学报:英文版 2023年第7期59卷 146-152页

作者： Chaoqun Wu Xun Liu Fujun Yao Xin Yang Yan Wang Wenyuan Hu State Key Laboratory of Environment-friendly Energy Materials Southwest University of Science and TechnologyMianyang 621000China Materials Science and Engineering Southwest University of Science and TechnologyMianyang 621000China National Health Commission Key Laboratory of Nuclear Technology Medical Transformation Mianyang Central HospitalMianyang 621010China

The influence of minor environmental factors,such as the geomagnetic field,on the biomineralization of nacres,is often ignored but a great deal of research has confirmed its important role in the normal mineralization of calcium *** the geomagnetic field is weak,its cumulative effects need to be considered given that the biomineralization process can take ***,the authors of this paper have investigated the effects of weak magnetic fields(25 Gs or 50 Gs)on calcium carbonate mineralization and analyzed the mechanism *** results show that even a weak magnetic field conduces to the formation of vaterite or aragonite,in the induction order of precursor→vaterite→*** stronger the magnetic field and the longer the time,the more obvious the induction *** effect of a magnetic field is strongest in the aging stage and weakest in the solution *** by egg-white protein and by a magnetic field inhibit each other,but they both restrict particle *** findings highlight the importance of minor environmental factors for biomineralization and can serve as a reference for biomimetic preparation of a CaCO_(3)nacre-like structure and for anti-scale technology for circulating cooling water.

关键词： Biomimetic mineralization Calcium carbonate Magnetic field Egg-white protein

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Revisiting delayed appendectomy in patients with acute appendicitis

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World Journal of Clinical Cases 2021年第20期9卷 5372-5390页

作者： Jian Li Department of General Surgery The Third Hospital of MianyangSichuan Mental Health CenterMianyang 621000Sichuan ProvinceChina

Acute appendicitis(AA)is the most common acute abdomen,and appendectomy is the most common nonelective surgery performed *** the long history of understanding this disease and enhancements to medical care,many challenges remain in the diagnosis and treatment of *** of these challenges is the timing of *** recent decades,extensive studies focused on this topic have been conducted,but there have been no conclusive *** the onset of symptoms to appendectomy,many factors can cause delay in the surgical *** are inevitable,and some can be modified and *** favorable and unfavorable results of these factors vary according to different *** purpose of this review is to discuss the causes of appendectomy delay and its risk-related *** review also explores strategies to balance the positive and negative effects of delayed appendectomy.

关键词： Acute appendicitis Appendectomy Delay Perforation Postoperative complications

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Obesity and cancer stem cells:Roles in cancer initiation,progression and therapy resistance

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World Journal of Stem Cells 2023年第4期15卷 120-135页

作者： Wen-Jie Xie Jian Li Department of General Surgery The Third Hospital of MianyangSichuan Mental Health CenterMianyang 621000Sichuan ProvinceChina

Obesity,the global pandemic since industrialization,is the number one lifestylerelated risk factor for premature death,which increases the incidence and mortality of various diseases and conditions,including *** recent years,the theory of cancer stem cells(CSCs),which have the capacity for self-renewal,metastasis and treatment resistance,has been bolstered by increasing ***,research on how obesity affects CSCs to facilitate cancer initiation,progression and therapy resistance is still in its infancy,although evidence has already begun to *** the ever-increasing burden of obesity and obesity-related cancer,it is pertinent to summarize evidence about the effects of obesity on CSCs,as elucidating these effects will contribute to the improvement in the management of obesity-related *** this review,we discuss the association between obesity and CSCs,with a particular focus on how obesity promotes cancer initiation,progression and therapy resistance through CSCs and the mechanisms underlying these *** addition,the prospect of preventing cancer and targeting the mechanisms linking obesity and CSCs to reduce cancer risk or to improve the survival of patients with cancer is considered.

关键词： Obesity High-fat diet Cancer stem cells Carcinogenesis Metastasis

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Treatment of Chronic Bronchitis with Modified Ma Xing Shi Gan Tang and Er Chen Tang

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Journal of Traditional Chinese Medicine 2004年第1期24卷 12-13页

作者：朱颖刘晓东毛树章 mianyang Municipal Institute of TCM Mianyang 621000Sichuan Province The Third People's hospital MianyangSichuan Province

Chronic bronchitis is a disease commonly seen in theclinic. The authors have treated 78 cases of the disease with modified Ma Xing Shi Gan Tang (麻杏石甘汤Decoction of Ephedra, Armeniacae Amarum,Glycyrrhizae and Gypsum Fibrosum) plus Er ChenTang (二陈汤Two Old Drugs Decoction). The results were satisfactory and reported as follows.

关键词：麻杏石甘汤二陈汤中医药疗法慢性支气管炎药理作用

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