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Genotypes and Phenotypes of Uygur Children With Xeroderma Pigmentosum: A Case Study in Xinjiang, China

International Journal of Dermatology and Venereology 2024年第3期7卷 144-149页

作者： Yun Qiu Wei-Jia Wang Jun-Qin Liang Buwajieer Yakeya Peng Wang jing-Zhan Zhang xiao-jing kang Department of Dermatology and Venereology People’s Hospital of Xinjiang Uygur Autonomous RegionUrumqiXinjiang Uygur Autonomous Region 830001China Xinjiang Clinical Research Center for Dermatologic Diseases UrumqiXinjiang Uygur Autonomous Region 830001China Xinjiang Key Laboratory of Dermatology Research(XJYS1707) UrumqiXinjiang Uygur Autonomous Region 830001China

Objective:Xeroderma pigmentosum(XP)is a rare autosomal recessive dermatosis caused by genetic defects of DNA *** study was performed to detect and analyze the genes of 2 Uygur patients with XP and their families and assess the patients’phenotypes,which may enrich the understanding of the genetic skin disorder spectrum in Xinjiang ***:We collected the clinical data from 2 patients with XP and peripheral blood samples from the patients and their family *** patients’DNA was sequenced and detected by Sanger sequencing,and gene mutations were ***:The proband in family 1 presented with brown maculae at the exposure site and squamous cell carcinoma secondary to a facial *** proband had a homozygous nucleotide variation of XPC c.2251-2A>G(A change from A to G in the penultimate position of the intron before the 2251 position in the coding region),which was a shear *** this family,both parents were heterozygous,and no similar mutation detected in the *** family 2,the proband had scattered black brown spots and papules on the trunk and *** his younger sister was also a *** proband and his younger sister had homonucleotide variation of XPA c.631C>T,which was nonsense mutation,resulting in the codon for Arg No.211 being changed into termination codon(***211X),thus terminating the peptide chain synthesis *** the normal individuals in the two families were heterozygotes,and homozygous mutations occurred in all the patients,which was consistent with the autosomal recessive ***:XP is rare in Uygur *** study expanded the mutation spectrum of XP and provided a basis for early diagnosis,treatment,prognostic prediction,and prenatal genetic consultation.

关键词： xeroderma pigmentosum gene mutation XPA gene XPC gene

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A Mild and Efficient Synthesis of Chiral N-Boc-a-aminoaldehydes

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Chinese Chemical Letters 2006年第9期17卷 1162-1164页

作者： Bin HU Kun xiao jing kang SHEN State Key Laboratory of Drug Research Shanghai Institute of Materia MedicaShanghai Institutes for Biological Sciences Chinese Academy of Sciences Shanghai 201203

A series of chiral N-Boc-α-aminoaldehydes were synthesized in good yields and high purity via esterification of Boc-L-amino acids followed by reduction with sodium bis （2-methoxy- ethoxy）aluminum hydride.

关键词： Aminoaldehyde reduction sodium bis(2-methoxyethoxy)aluminum hydride ester amino acid.

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Risk factors for infantile hemangioma:a meta-analysis

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World Journal of Pediatrics 2020年第4期16卷 377-384页

作者： Yuan Ding jing-Zhan Zhang Shi-Rong Yu Fang Xiang xiao-jing kang Department of Dermatology People’s Hospital of Xinjiang Uygur Autonomous RegionUrumqi830000China

Background Infantile hemangioma(IH)is one of the most common tumors in *** pathogenesis is complex and poorly *** risk factors of IH have been extensively studied from clinical and epidemiological perspectives in recent years,but the conclusions in the literature reports are *** provide a reference for the prevention of hemangioma,we conducted a meta-analysis of the published studies of potential risk factors for *** The Cochrane Library,Ovid,PubMed,and Web of Science databases were searched *** odds ratios(log ORs),logistic regression standard errors and 95%confidence intervals(CIs)were used to compare the correlation between IH and potential risk *** Manager 5.3.3 was used for the statistical *** Six studies were included and 17 potential risk factors were eventually evaluated.P values<0.05 were found for female gender(P<0.01,OR 2.04,95%CI 1.65–2.51),low birth weight(P<0.01,OR 4.39,95%CI 3.05–6.31),multiple gestation(P=0.01,OR 2.39,95%CI 1.21–4.71),preterm birth(P=0.03,OR 2.37,95%CI 1.07–5.23),progesterone therapy(P<0.01,OR 2.73,95%CI 2.12–3.51),and family history(P=0.01,OR 1.98,95%CI 1.16–3.38).Conclusions This meta-analysis revealed that risk factors,including female gender,low birth weight,multiple gestation,preterm birth,progesterone therapy,and family history may affect the occurrence of IH.

关键词： Infantile hemangioma Meta-analysis Risk factors

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Chinese Expert Consensus on the Diagnosis and Treatment of Adult Dermatomyositis (2022)

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International Journal of Dermatology and Venereology 2024年第3期7卷 163-173页

作者： Hua Cao Ai-Jun Chen Yong Cui Dan-Qi Deng Xing-Hua Gao Yan-Ling He xiao-jing kang Hong-Zhong Jin Cheng-Xin Li Feng Li Heng-Jin Li Wen-Jun Liao xiao-Ming Liu Qian-Jin Lu Yan Lu Meng Pan Wei-Hua Pan xiao-Ming Shu Qing Sun Ke-Yun Tang Juan Tao Yu Wang Ting xiao Fu-Ren Zhang Han-Lin Zhang Dermatology Branch of the China International Exchange and Promotion Association for Medical and Health Care National Clinical Research Center for Dermatologic and Immunologic Diseases Department of Dermatology Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of MedicineShanghai 200025China Department of Dermatology First Affiliated Hospital of Chongqing Medical UniversityChongqing 400042China Department of Dermatology China-Japan Friendship HospitalBeijing 100029China Department of Dermatology the Second Affiliated Hospital of Kunming Medical UniversityKunmingYunnan 650101China Department of Dermatology the First Hospital of China Medical UniversityShenyangLiaoning 110001China Department of Dermatology Beijing Chaoyang Hospital Affiliated to Capital Medical UniversityBeijing 100020China Department of Dermatology and Venereology People’s Hospital of Xinjiang Uygur Autonomous RegionUrumqiXinjiang Uygur Autonomous Region 830001China Department of Dermatology State Key Laboratory of Complex Severe and Rare DiseasesPeking Union Medical College HospitalChinese Academy of Medical Science and Peking Union Medical CollegeBeijing 100730China Department of Dermatology First Medical CenterPLA General HospitalBeijing 100853China Department of Dermatology Hainan Hospital of PLA General HospitalSanyaHainan 572013China Department of Dermatology Xijing HospitalAir Force Medical UniversityXi’anShaanxi 710032China Department of Dermatology Huazhong University of Science and Technology Union Shenzhen HospitalShenzhenGuangdong 518052China Hospital for Skin Diseases(Institute of Dermatology) Chinese Academy of Medical Sciences and Peking Union Medical CollegeNanjingJiangsu 210042China Department of Dermatology Jiangsu Province Hospitalthe First Affiliated Hospital of Nanjing Medical UniversityNanjingJiangsu 210029China Department of Dermatology Shanghai Changzheng HospitalSecond Affiliated Hospital of Naval Medical UniversityShanghai 200003China Department of Rheumatology China-Japan Friendship HospitalBeijing 100029China Department of Dermatology Qilu Hospital of Shandong UniversityJinanShandong 250012China Department of Dermatology Union Hospital

Dermatomyositis,an idiopathic inflammatory myopathy,is characterized by distinctive skin manifestations,proximal muscle weakness,and multiple organ involvement and can be accompanied by *** provide a reference for dermatologists and clinicians in other relevant fields of clinical practice,experts from the Dermatology Branch of the China International Exchange and Promotion Association for Medical and Health Care and the National Clinical Research Center for Dermatologic and Immunologic Diseases developed this consensus on the diagnosis and treatment of adult dermatomyositis using Chinese and international literature and expert advice.

关键词： dermatomyositis adult diagnosis treatment clinical protocols expert consensus

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Expert Consensus on the Treat-to-Target Strategy for Psoriasis With Biological Agents in China(Simplified Edition)

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International Journal of Dermatology and Venereology 2024年第2期7卷 61-69页

作者： Ai-Jun Chen Da-Xing Cai Xiang Chen Yong Cui Yan Ding Heng Gu Xing-Hua Gao Chao Ji xiao-jing kang Ye-Hong Kuang Cheng-Zhi Lyu Min Li Wei Li Xia Li Yu-Zhen Li xiao-Yong Man Jian-Jun Qiao Juan Su Liang-Dan Sun Yu-Ling Shi Juan Tao Jian-Xin Xia Rong xiao Bin Yang Wu Zhu Xue-Jun Zhang Committee on Psoriasis Dermatology and Venereology Branch of the Chinese Medical Association Department of Dermatology The First Affiliated Hospital of Chongqing Medical UniversityChongqing 400016China Department of Dermatology Qilu HospitalShandong UniversityJinanShandong 250100China Department of Dermatology Xiangya HospitalCentral South UniversityChangshaHunan 410008China Department of Dermatology China-Japan Friendship HospitalBeijing 100192China Department of Dermatology Hainan Provincial Hospital of Skin DiseaseHaikouHainan 570311China Department of Dermatology Hospital for Skin DiseasesChinese Academy of Medical SciencesNanjingJiangsu 210042China Department of Dermatology The First Hospital of China Medical UniversityShenyangLiaoning 110002China Department of Dermatology The First Affiliated Hospital of Fujian Medical UniversityFuzhouFujian 350004China Department of Dermatology People’s Hospital of Xinjiang Uygur Autonomous RegionUrumqiXinjiang Uyghur Autonomous Region 830001China Department of Dermatology Dalian Dermatosis HospitalDalianLiaoning 116021China Department of Dermatology Dushu Lake Hospital Affiliated to Soochow UniversitySuzhouJiangsu 215127China Department of Dermatology West China Hospital of Sichuan UniversityChengduSichuan 610044China Department of Dermatology Ruijin HospitalShanghai Jiao Tong University School of MedicineShanghai 200025China Department of Dermatology The Second Affiliated Hospital of Harbin Medical UniversityHarbinHeilongjiang 150086China Department of Dermatology The Second Affiliated Hospital of Zhejiang University School of MedicineHangzhouZhejiang 310003China Department of Dermatology The First Affiliated Hospital of Zhejiang University School of MedicineHangzhouZhejiang 310003China Department of Dermatology The First Affiliated Hospital of Anhui Medical UniversityHefeiAnhui 230022China Department of Dermatology Shanghai Skin Disease HospitalTongji University School of MedicineShanghai 200093China Department of Dermatology The Union Hospital of Tongji Medical CollegeHuazhong University of Science and Te

Psoriasis is a chronic,recurrent,inflammatory systemic disease that is not only characterized by skin manifestations but may also be accompanied by various comorbidities,imposing a heavy burden on patients’physical and mental health and affecting their quality of *** the continuous approval of various biological agents for clinical use has provided more effective treatment options to patients with psoriasis,no consensus on the evaluation of comprehensive treatment goals has yet been *** treat-to-target(T2T)strategy requires consideration of multiple dimensions of treatment outcomes,the development of long-term management goals,and regular assessments of treatment conditions,which are often used in the management of chronic ***,based on the latest consensuses and guidelines,research data,and clinical experience as well as the combination of survey results and expert group discussions,the present consensus focuses on 4 dimensions of short-and long-term integrated management goals for biological agents:alleviating skin lesions,improving quality of life,screening and managing psoriasis comorbidities,and ensuring drug *** implementation methods,evaluation time,treatment monitoring,and program adjustments are also herein described to achieve comprehensive management of psoriasis to the maximum *** consensus provides a reference for clinical practice.

关键词： psoriasis biological agents treat-to-target comorbidity consensus

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Bowen’s disease on the palm: A case report

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World Journal of Clinical Cases 2019年第18期7卷 2910-2915页

作者： Shi-Rong Yu jing-Zhan Zhang Xiong-Ming Pu xiao-jing kang Department of Dermatology People’s Hospital of Xinjiang Uygur Autonomous RegionUrumqi 830001Xinjiang Uygur Autonomous RegionChina Graduate School Xinjiang Medical UniversityUrumqi 830001Xinjiang Uygur Autonomous RegionChina

BACKGROUND Bowen’s disease (BD) is a persistent, progressive intraepidermal carcinoma. BD usually occurs in areas exposed to sunlight. Involvement of the dorsum of the hand is not rare, but that of the palmar aspect is very unusual. Only a few cases have been reported in the literature. CASE SUMMARY Here, we report the case of a 48-year-old male patient who presented with a history of persistent local erythema lasting for 2 years on the thenar eminence of the left palm. Initially diagnosed as hand eczema, the condition did not improve with intermittent treatment with anti-allergy medications or topical glucocorticoid ointments, among other approaches. Then, the area of erythema gradually enlarged and was accompanied by mild itching. For a definite diagnosis and treatment, the patient came to our hospital. Dermoscopic examination revealed BD, and histopathological examination confirmed the diagnosis. We performed partial resection of the skin lesion followed by photodynamic therapy. No recurrence was observed at the 6-mo follow-up. CONCLUSION For all atypical palmar lesions, early dermoscopy and/or skin biopsy are needed to avoid missed diagnosis or misdiagnosis.

关键词： Bowen's disease Dermoscopy Pathology Case report

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Association between celiac disease and vitiligo:A review of the literature

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World Journal of Clinical Cases 2021年第34期9卷 10430-10437页

作者： jing-Zhan Zhang Dilinuer Abudoureyimu Man Wang Shi-Rong Yu xiao-jing kang Department of Dermatology People’s Hospital of Xinjiang Uygur Autonomous RegionXinjiang Key Laboratory of Dermatology ResearchUrumqi 830001Xinjiang Uygur Autonomous RegionChina Department of Gastroenterology People’s Hospital of Xinjiang Uygur Autonomous RegionUrumqi 830001Xinjiang Uygur Autonomous RegionChina

Celiac disease(CD)is an autoimmune intestinal disease caused by the intake of gluten-containing cereals and their products by individuals with genetic susceptibility *** is a commonly acquired depigmentation of the skin;its clinical manifestation are skin patches caused by localized or generalized melanin *** diseases have similar global incidence rates(approximately 1%)and are associated to similar diseases,including autoimmune bullous disease,inflammatory bowel disease,autoimmune thyroiditis,autoimmune gastritis,and type 1 *** relationship between CD and vitiligo has been reported in several studies,but their conclusions are ***,it has also been reported that a gluten-free diet(GFD)can improve the symptoms of immunerelated skin diseases such as *** this mini-review,we summarize and review the literature on the relationship between CD and vitiligo,assess the therapeutic significance of GFD for patients with vitiligo,and explore their possible *** are hopeful that the information summarized here will assist physicians who treat patients with CD or vitiligo,thereby improving the prognosis.

关键词： Celiac disease Gluten-free diet Vitiligo Dermatitis herpetiformis

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Core shift limitation in investment casting process of hollow turbine blade

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Chinese Journal of Aeronautics 2024年第8期37卷 513-526页

作者： kang CUI Lin jing Ruisong JIANG Longnv YU xiao GAO Automation and Software Engineering Shanxi UniversityTaiyuan 030006China Key Laboratory of High Performance Manufacturing for Aero Engine Ministry of Industry and Information TechnologySchool of Mechanical EngineeringNorthwestern Polytechnical UniversityXi’an 710072China School of Mechanical Engineering Sichuan UniversityChengdu 610065China

The deviation in wall thickness caused by core shift during the investment casting process significantly impacts the strength and service life of hollow turbine *** address this issue,a core shift limitation method is developed in this ***,a shift model is established based on computational fluid dynamics and motion simulation to predict the movement of the ceramic core in investment casting ***,utilizing this model,an optimization method for fixturing layout inside the refractory ceramic shell is devised for the ceramic *** casting experiment demonstrates that by utilizing the optimized fixture layout,not only can core shift during the investment casting pouring process be effectively controlled,but also the maximum wall thickness error of the blade can be reduced by 42.02%.In addition,the core shift prediction is also validated,with a prediction error of less than 26.9%.

关键词： Hollow turbine blade Wall thickness Ceramic core Shift prediction Fixturing layout optimization

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Clinical characteristics of sentinel polyps and their correlation with proximal colon cancer: A retrospective observational study

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World Journal of Clinical Cases 2019年第20期7卷 3217-3225页

作者： Man Wang Jia-Jie Lu Wen-Jie Kong xiao-jing kang Feng Gao Department of Gastroenterology People’s Hospital of Xinjiang Uygur Autonomous RegionUrumqi 830001Xinjiang Uygur Autonomous RegionChina Department of Dermatology People’s Hospital of Xinjiang Uygur Autonomous RegionUrumqi 830001Xinjiang Uygur Autonomous RegionChina

BACKGROUND Colorectal cancer is a common malignant tumor of the digestive *** relationship between sentinel polyps(rectal polyps with proximal colon cancer)and proximal colon cancer has received extensive attention in recent ***,there is still no clear conclusion regarding the *** To investigate the clinical characteristics of sentinel polyps and their correlation with proximal colon *** A retrospective analysis of 2587 patients with rectal polyps from January 2006 to December 2017 was *** to whether or not proximal colon cancer was diagnosed,the patients were divided into either a sentinel polyp group(192 patients)or a pure rectal polyp group(2395 patients).The endoscopic features,clinicopathological features,therapeutic effects,and short-term prognosis were analyzed and compared between the two *** The mean age of patients in the sentinel polyp group was generally higher than that of the pure rectal polyp group,and the positivity rates of anemia,stool occult blood,and tumor markers of the sentinel polyp group were also significantly higher than those in the rectal polyp group(χ^2=90.56,P<0.01;χ^2=70.30,P<0.01;χ^2=92.80,P<0.01).The majority of the patients in the sentinel polyp group had multiple polyps,large polyps,adenomatous polyps,or sessile polyps(χ^2=195.96,P<0.01;χ^2=460.46,P<0.01;χ^2=94.69,P<0.01;χ^2=48.01,P<0.01).Most of the proximal colon cancers were Duke’s A and B stages in the sentinel polyp *** the pure rectal polyp group,2203 patients underwent endoscopic treatment,and all of the patients were cured and *** the sentinel polyp group,65 patients underwent radical operation,and 61 patients received endoscopic submucosal dissection or endoscopic mucosal ***,21 patients were lost to follow-up after 6-12 mo,and the loss rate was 10.94%.A total of 63.16%of patients experienced remission without tumor recurrence or metastasis,33.33%of patients experienced tum

关键词： Sentinel polyps Rectal polyps Proximal colon cancer Ascending colon cancer Transverse colon cancer

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Association of Helicobacter pylori infection with colorectal polyps and malignancy in China

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World Journal of Gastrointestinal Oncology 2020年第5期12卷 582-591页

作者： Man Wang Wen-Jie Kong jing-Zhan Zhang Jia-Jie Lu Wen-Jia Hui Wei-Dong Liu xiao-jing kang Feng Gao Department of Gastroenterology People’s Hospital of Xinjiang Uygur Autonomous RegionUrumqi 830001Xinjiang Uygur Autonomous RegionChina Department of Dermatology People’s Hospital of Xinjiang Uygur Autonomous RegionUrumqi 830001Xinjiang Uygur Autonomous RegionChina

BACKGROUND Gastric Helicobacter pylori(***)infection is related to chronic gastritis,gastroduodenal ulcer,and gastric malignancies;whether this infection is related to colorectal polyps and colorectal cancer(CRC),remains *** To investigate the relationship between gastric *** infection and the risk of colorectal polyps and *** We retrospectively analyzed 3872 patients with colorectal polyps who underwent colonoscopy and pathological *** also analyzed 304 patients with primary *** characteristics of these patients were compared with those of the control group,which included 2362 patients with the normal intestinal *** subjects completed a 14C-urea breath test,bidirectional gastrointestinal endoscopy,and a biopsy on the same *** on the number,size,location,and pathology of the polyps,the location,and pathology of the CRC,the detection of ***,and the incidence of ***-associated atrophic gastritis or intestinal metaplasia were obtained.A logistic regression model was used to analyze the relationship between gastric infection due to ***,and the incidence of colorectal polyps and *** The prevalence of *** infection was higher in the multiple polyps group than in the solitary polyp group and the control group[95%confidence interval(CI)=1.02-1.31,P=0.03;95%CI:2.12-2.74,P<0.001].The patients with adenomatous polyps had a higher incidence of *** infection than patients with non-adenomatous polyps[59.95%vs 51.75%,adjusted odds ratio(OR)=1.41,95%CI:1.24-1.60,P<0.01].Patients with ***-associated atrophic gastritis or intestinal metaplasia were at high risk of CRC(adjusted OR=3.46,95%CI:2.63-4.55,P<0.01;adjusted OR=4.86,95%CI:3.22-7.34,P<0.01,respectively).The size and location of the polyps,the histopathological characteristics and the location of CRC were not related to *** *** Our study demonstrates that the incidence of gastric *** infection and ***-assoc

关键词： Helicobacter pylori Atrophic gastritis Intestinal metaplasia Polyps Colorectal cancer Gastrointestinal neoplasms

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