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Perforated duodenal ulcer secondary to deferasirox use in a child successfully managed with laparoscopic drainage:A case report

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World Journal of Clinical Cases 2022年第34期10卷 12775-12780页

作者： Abdullah Alshehri Tuqa Adil Alsinan Department of Surgery College of MedicineKing Saud UniversityRiyadh 12372Saudi Arabia Department of Pediatric Surgery Prince Sultan Military Medical CityRiyadh 12211Saudi Arabia College of Medicine Alfaisal UniversityRiyadh 12211Saudi Arabia

BACKGROUND A perforated gastroduodenal ulcer is rarely observed in children.Certain medications have been reported to cause ulcerations.Deferasirox,an iron chelating agent,has been previously reported to be associated with the development of gastroduodenal ulcers.CASE SUMMARY We report a case of a 3-year-old boy who was diagnosed with beta thalassemia major and treated with deferasirox.He presented to the emergency department with an acute abdomen.A perforated duodenal ulcer was suspected after X-ray imaging and laparoscopic exploration.It was successfully managed with laparoscopic washout and drainage.CONCLUSION Due to the rarity and severity of this case,it is a reminder that prevention and early recognition of gastrointestinal complications in patients receiving deferasirox are crucial.Minimally invasive laparoscopic surgery is both safe and feasible to treat perforated duodenal ulcers in selected patients.

关键词： Peptic ulcer Iron chelating agents Deferasirox hemoglobinopathies Children Case report

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Recent advances in lentiviral vectors for gene therapy

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Science China(Life Sciences) 2021年第11期64卷 1842-1857页

作者： Xiaoyu Wang Cuicui Ma Roberto Rodríguez Labrada Zhou Qin Ting Xu Zhiyao He Yuquan Wei Department of Pharmacy State Key Laboratory of Biotherapy and Cancer CenterNational Clinical Research Center for GeriatricsWest China HospitalSichuan UniversityChengdu 610041China Department Clinical Neurophysiology Centre for the Research and Rehabilitation of Hereditary AtaxiasHolguín 80100Cuba Key Laboratory of Drug-Targeting and Drug Delivery System of the Education Ministry Sichuan Engineering Laboratory for Plant-Sourced Drug and Sichuan Research Center for Drug Precision Industrial TechnologyWest China School of PharmacySichuan UniversityChengdu 610041China

Lentiviral vectors(LVs), derived from human immunodeficiency virus, are powerful tools for modifying the genes of eukaryotic cells such as hematopoietic stem cells and neural cells. With the extensive and in-depth studies on this gene therapy vehicle over the past two decades, LVs have been widely used in both research and clinical trials. For instance, third-generation and selfinactive LVs have been used to introduce a gene with therapeutic potential into the host genome and achieve targeted delivery into specific tissue. When LVs are employed in leukemia, the transduced T cells recognize and kill the tumor B cells;in β-thalassemia, the transduced CD34^(+) cells express normal β-globin;in adenosine deaminase-deficient severe combined immunodeficiency, the autologous CD34^(+) cells express adenosine deaminase and realize immune reconstitution. Overall, LVs can perform significant roles in the treatment of primary immunodeficiency diseases, hemoglobinopathies, B cell leukemia, and neurodegenerative diseases. In this review, we discuss the recent developments and therapeutic applications of LVs. The safe and efficient LVs show great promise as a tool for human gene therapy.

关键词： lentiviral vector gene therapy primary immunodeficiency diseases leukemia hemoglobinopathies neurodegenerative diseases

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Prevalence of G6PD deficiency and hemoglobinopathies on malaria-endemic Bioko Island,Equatorial Guinea:implications for public health strategies in the region

Prevalence of G6PD deficiency and hemoglobinopathies on mala...

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广东省遗传学会第九届代表大会暨学术研讨会

作者： Min Lin Dong-De Xie Jiang-Tao Chen Santiago-m Monte Nguba Carlos Sala Ehapo Li-Ye Yang Xiao-Fen Zhan Juan Urbano Monsuy Eyi Rocio Apicante Matesa Maximo Miko Ondo Obono Hui Yang Hui-Tian Yang Li-Ye Yang Department of Internal Medicine First Hospital Affiliated with the Medical College of Shantou University Central Laboratory Chaozhou Central Hospital Affiliated to Southern Medical University

Background To propose effective public health strategies for using antimalarial drugs and prevention and control of genetic disorders,reliable epidemiological information on local population is needed.This study aimed to assess the prevalence and health impact of glucose-6-phosphate dehydrogenase(G6PD) deficiency and hemoglobinopathies in the population on malaria-endemic Bioko Island,Equatorial Guinea.Methods Blood samples from 4,144 unrelated subjects were screened for G6 PD deficieny by fluorescence spot test,high-resolution melting assay and PCR-DNA sequencing from April 2012 to May 2014.In addition,1,186 samples were randomly selected from the 4,144 subjects for detection of hemoglobin S(HbS;c.20 A>T),HbC(c.19 G>A),and a-thalassemia(a-thal) deletion by complete blood count,PCR-DNA sequencing and reverse dot blot genechip assay.Results The prevalence of malaria and anemia was 12.6%(522/4,144) and 32.8%(389/1,186),respectively.Overall,8.7%people(359/4,144) were G6PD-deficient,9.0%(249/2,758) males and 7.9%(110/1,386)females.The A" variants(c.202 G>A + c.376 A>G) were detected in 99.2%of G6PD-deficient individuals(356/359).Among the 1,186 subjects screened for hemoglobinopathies,201 were HbS heterozygotes,35 HbC heterozygotes,and 2 HbCS double heterozygotes;452 showed heterozygous-a3’7 kb deletion and 85 homozygous-a3’7 kb deletion.The overall allele frequencies for these disorders were HbS,17.1%(n=203);HbC,3.1%(n=37);and a-thal,45.3%(n=622).Conclusions High G6 PD deficiency in this population indicated that diagnosis and management of G6 PD deficiency is crucial for current malaria control and elimination.People should be tested for G6 PD deficiency before antimalarial treatment.Obligatory newborn screening,prenatal screening and counseling for these genetic disorders,especially HbS,are needed in the region.

关键词： G6PD deficeny hemoglobinopathies Bioko Island

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Cordocentesis: a useful method for prenatal diagnosis

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CHINESE MEDICAL JOURNAL 1996年第4期109卷 291-4页

作者： Xiang Yang Sun Nianhu Chang Xin Bian Xuming Wang Fengyun PekingUnionMedicalCollegeHospital PUMC&CAMS Beijing

OBJECTIVE To evaluate the efficacy and safety of cordocentesis for prenatal diagnosis of various fetal diseases.METHODS Fetal blood sampling was performed in 30 pregnancies from gestational week 19 to 36 for various prenatal diagnoses. We used Aloka SSD-650 real-time ultrasound scanner with 3.5 mHz curvilinear transducer during the procedure. A regular 22-gauge spinal needle was used for fetal blood sampling.RESULTS Twenty-five cordocentesis were successful at the first attempt. A second attempt of cordocentesis succeeded in three cases. In the remaining two cases, intrahepatic vein sampling and cardiocentesis were employed respectively. The duration of procedure was shorter than 15 minutes in 25 cases. 1-6 ml of fetal blood was obtained from each case. Fetal blood was diluted with amniotic fluid in four samples. Maternal blood contamination never happened. No lethal complication occurred in our series.CONCLUSIONS It is believed that cordocentesis is a safe and useful method for prenatal diagnosis, and intrahepatic vein sampling is an alternative choice when cordocentesis has failed.

关键词： FETAL BLOOD CHROMOSOME MOSAICISM hemoglobinopathies RISKS

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GENE DIAGNOSIS OF HEMOGLOBINOPATHY IN CHINESE BY AMPLIFIED DNA

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Medical Bulletin of Shanghai Jiaotong University 1989年第Z1期12卷 1-9页

作者：黄淑帧周霞娣朱皓任兆瑞曾溢滔 Laboratory of Medical Genetics Shanghai Children's Hospital Teaching Hospital of SSMU Shanghai

This paper describes the application of DNA amplification in vitro with the polymerase chain reaction on the prenatal diagnosis of thalassemia syndromes and on detection of HbS and HbD Punjab genes. DNA polymerase chain reaction was performed on lysed amniotic fluid cells or chorionic villus samples without prior DNA extraction and on DNA sampling from dried blood spots on filter paper blotters, α-thalassemia was prenatally diagnosed by direct analysis of amplified fetal target sequences on gel electrophoresis; and β-thalassemia was predicted by Hgi AI RFLP linkage analysis with amplified β-globin DNA. HbS and HbD Punjab genes were identified by Mst Ⅱor Eco RI mapping of the amplified β-globin DNA directly on the electrophoretic gels. The analysis of the amplified DNA does not require radioactive DNA probes and Southern hybridization. The total procedure can be completed within five hours.

关键词： polymerase chain reaction DNA amplification hemoglobinopathies gene diagnosis

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Preimplantation HLA typing: Practical tool for stem cell transplantation treatment of congenital disorders

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World Journal of Medical Genetics 2014年第4期4卷 105-109页

作者： Anver Kuliev Svetlana Rechitsky Reproductive Genetics Institute ChicagoIL 60657United States

It is well known that to achieve an acceptable engraftment and survival in stem cell therapy, an human leukocyte antigens(HLA) identical stem cell transplant is strongly required. However, the availability of the HLA matched donors even among family members is extremely limited, so preimplantation HLA typing provides an attractive practical tool of stem cell therapy for children requiring HLA matched stem cell transplantation. The present experience of preimplantation genetic diagnosis(PGD) for HLA typing of over one thousand cases shows that PGD provides the at-risk couples with the option to establish an unaffected pregnancy, which may benefit the affected member of the family with hemoglobinopathies, immunodeficiencies and other congenital or acquired bone marrow failures. Despite ethical issues involved in preimplantation HLA typing, the data presented below show an extremely high attractiveness of this option for the couples with affected children requiring HLA compatible stem cell transplantation.

关键词： Preimplantation HLA typing Preimplantation genetic diagnosis Stem cell transplantation hemoglobinopathies Immunodeficiencies Aneuploidy testing

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Cation-exchange high-performance liquid chromatography for variant hemoglobins and HbF/A2:What must hematopathologists know about methodology?

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World Journal of Methodology 2016年第1期6卷 20-24页

作者： Prashant Sharma Reena Das Department of Hematology Level 5Research Block APostgraduate Institute of Medical Education and Research

Cation-exchange high-performance liquid chromatography(CE-HPLC) is a widely used laboratory test to detect variant hemoglobins as well as quantify hemoglobins F and A2 for the diagnosis of thalassemia syndromes. It's versatility, speed, reproducibility and convenience have made CE-HPLC the method of choice to initially screen for hemoglobin disorders. Despite its popularity, several methodological aspects of the technology remain obscure to pathologists and this may have consequences in specific situations. This paper discusses the basic principles of the technique, the initial quality control steps and the interpretation of various controls and variables that are available on the instrument output. Subsequent sections are devoted to methodological considerations that arise during reporting of cases. For instance, common problems of misidentified peaks, totals crossing 100%, causes of total area being above or below acceptable limits and the importance of pre-integration region peaks are dealt with. Ultimately, CE-HPLC remains an investigation, the reporting of which combines in-depth knowledge of the biological basics with more than a working knowledge of the technological aspects of the technique.

关键词： Anemia Diagnosis Hematological disorders Hematopathology Hemoglobin hemoglobinopathies High-performance liquid chromatography Laboratory instrumentation Red blood cells Thalassemia

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