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Metabolic and genetic assessments interpret unexplained aggressive pulmonary hypertension induced by methylmalonic acidemia:A case report

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World Journal of Clinical Cases 2020年第6期8卷 1137-1141页

作者： Hong-Yu Liao Xiao-Qing Shi Yi-Fei Li Department of Pediatrics and Ministry of Education Key Laboratory of Women and Children's Diseases and Birth Defects West China Second University HospitalSichuan UniversityChengdu 610041Sichuan ProvinceChina

BACKGROUND Pulmonary hypertension (PH) causes significant morbidity and mortality in diverse childhood ***,limited information has been reported to obtain a good understanding of pediatric *** exist between genome sequencing and metabolic assessments and lead to misinterpretations of the complicated symptoms of ***,we report a rare case of a patient who presented with severe PH as the first manifestation without significant cardiovascular malformation and was finally diagnosed with methylmalonic aciduria (MMA) after metabolic and genomic *** SUMMARY An 11-year-old female presented with an aggressive reduction in activity capability and shortness of breath for only 4 mo and suffered from unexplained PH.A series of examinations was performed to evaluate any possible malformations or abnormalities of the cardiovascular system and lungs,but negative results were *** blood tests were normal except for manifestations of microcytic anemia and elevated total *** tomography and magnetic resonance imaging failed to identify any pulmonary *** catheterization examination identified a small right coronary artery to pulmonary artery shunt and severe *** the follow-up,PH progressed ***,genome sequencing and metabolic disorder screening were performed,which confirmed a diagnosis of MMA with MMACHC c.80A>G/c and 609G> A *** B12,betaine and bosentan were then administered as the main *** the 6-mo follow-up,the pulmonary artery pressure dropped to 45 mmHg,while the right ventricle structure *** patient’s heart function recovered to NYHA class Ⅱ.Metabolic disorder analysis failed to identify significant *** As emerging types of metabolic dysfunction have been shown to present as the first manifestation of PH,and taking advantage of next generation sequencing technology,genome sequencing and metabolic disorder screening are recommended to ha

关键词： Pulmonary hypertension methylmalonic acidemia Genomic sequence Metabolic disorder Case report

Perioperative characteristics and management of liver transplantation for isolated methylmalonic acidemia—the largest experience in China

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Hepatobiliary Surgery and Nutrition 2019年第5期8卷 470-479页

作者： Yi-Zhou Jiang Li-Ying Sun Zhi-Jun Zhu Lin Wei Wei Qu Zhi-Gui Zeng Ying Liu Yu-Le Tan En-Hui He Rui-Fang Xu Liang Zhang Jun Wang Xiao-Jie Chen Department of Liver Transplantation Center Beijing Friendship HospitalCapital Medical UniversityBeijing 100050China Department of Intensive Care Unit Beijing Friendship HospitalCapital Medical UniversityBeijing 100050China Department of Ultrasound Beijing Friendship HospitalCapital Medical UniversityBeijing 100050China Department of Anesthesiology Beijing Friendship HospitalCapital Medical UniversityBeijing 100050China

Background:There are few detailed consensus and guidelines on perioperative clinical characteristicsof liver transplantation(LT)in patients with methylmalonic acidemia(MMA).This retrospective studyinvestigated details of the clinical course and individualized treatment plan of the center with largestexperience in ***:A total of 7 MMA patients undergoing LT in Beijing Friendship Hospital from June 2013 toDecember 2017 were enrolled in the study,whose clinical data(clinical characteristics,laboratory findings,chronological changes in urine MMA levels,treatment,etc.)during perioperative period were *** the patients received strict postoperative ***:All the 7 cases were confirmed to have isolated MMA,among which,3 cases received livingdonor liver transplantation(LDLT),4 cases received deceased donor liver transplantation(DDLT).A wildfluctuate of metabolic condition was observed within the first few days after surgery and two weeks afterLT,the mean base excess of blood value(BE-B)restored to normal whereas plasma bicarbonate(HCO3-)was still below normal value even with intermittent sodium bicarbonate *** also showed markedreduction in propionylcarnitine(C3)and C3/C2 level and the mean urine MMA by gas chromatographymassspectrometry(GC-MS)was reduced by 81.7%(P72×higher than upper limitof *** metabolism-correcting medications were administered as *** renal function ofone case with renal insufficiency before LT(serum creatinine rising)maintained stable by adjusting theimmunosuppressive regimen during the observation *** patients survive to ***:LT is an effective treatment to prevent metabolic crisis,but patients with MMA tend to bemetabolically fragile even after *** perioperative period,close monitoring should be given foracidosis episodes so as to implement sodium bicarbonate ***-correcting medications arestill *** immuno

关键词： methylmalonic acidemia(MMA) methylmalonic acid liver transplantation(LT) perioperativemanagement

methylmalonic acid as an indicator of vitamin B12 deficiency in patients on metformin

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Journal of Diabetes Mellitus 2012年第1期2卷 72-75页

作者： Norbert Shtaynberg Manjinder Singh Phillip Sohn Michael Goldman Neil Cohen Staten Island University Hospital Afghanistan

Context: Metformin is frequently prescribed for the treatment of type 2 diabetes mellitus. It is recommended as a first line agent by the American Diabetes Association. Vitamin B12 deficiency has been suggested as a side effect of metformin therapy;however, previous studies have not assessed the utility of methylmalonic acid levels as an indicator of vitamin B12 status. Objective: To investigate the prevalence of vitamin B12 deficiency in patients on metformin therapy for diabetes by utilizing both vitamin B12 and methylmalonic acid levels. Design, Setting, and Patients: Eighty-eight patients with diabetes, who were either on or off metformin therapy for at least thirty days, were enrolled in a case-controlled study. Blood work and questionnaires were used for analysis. Main Outcome Measures Study: Aims were to detect a clinically significant difference in the prevalence of vitamin B12 deficiency between metformin users and non-users, where such deficiency is defined by both low vitamin B12 and elevated methylmalonic acid levels. Results: Two Sample Equal Variance T-Tests were used to compare averages of measured values and the Chisquare test was used to determine the significance of calculated vitamin B12 deficiency rates between the two groups of patients. Two separate methods for defining vitamin B12 deficiency were utilized. There was no difference in the prevalence of vitamin B12 deficiency in metformin users compared with non-users by either method. Average homocysteine levels were higher in those not on metformin therapy. Conclusion: Vitamin B12 deficiency as defined by an elevated methylmalonic acid level was no greater in patients with diabetes on metformin therapy versus those patients not on metformin treatment.

关键词： Metformin Vitamin B12 methylmalonic Acid Diabetes Mellitus

Analysis of Gene Mutations in Chinese Patients with methylmalonic Acidemia and Homocystinemia

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Analysis of Gene Mutations in Chinese Patients with Methylma...

Association of comorbidities with increasing severity of peripheral neuropathy in diabetes mellitus

第五届亚洲儿科研究大会

作者： Fei Wang~1 Lian-shu Han~1 Yu-hui Hu~2 Yan-ling Yang~1 1.Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric Research Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai 200092 China 2.Department of Pediatric First Hospital Beijing Universty Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric ResearchXinhua Hospital Shanghai Jiaotong University School of MedicineShanghai 200092China Department of PediatricFirst HospitalBeijing Universty

＜正＞Objective methylmalonic acidemia and homocystinemia,C type,is the most common inborn error of cobalamin *** present study aimed to identify the mutation types of MMACHC gene and analyze the genotype-phenotype co... 详细信息

关键词： methylmalonic acid Homocystine Gene Mutation

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World Journal of Diabetes 2013年第4期4卷 135-144页

作者： Shafna Sachedina Cory Toth School of Medicine Royal College of Surgeons IrelandCo. Department of Clinical Neurosciences the University of Calgary

AIM: To analyze a large population of patients with diabetes and peripheral neuropathy(PN) to determine other meaningful comorbid etiologies for ***: Peripheral Neuropathy is a common complication of type 1 and 2 diabetes mellitus;however,other potential causes for PN may be co-existing in patients with diabetes.A prospective cohort study was performed to assess patients with diabetes and *** compared patients having PN due solely to diabetes with patients possessing co-existing comorbidities,performing clinical(Toronto Clinical Scoring System and the Utah Early Neuropathy Scale),laboratory and electrophysiological assessments in all ***: Patients with either type 1 or 2 diabetes mellitus and co-existing comorbidities did not have more severe clinical or electrophysiological PN phenotypes ***,in patients with type 1 diabetes,presence of a lipid disorder was associated with greater PN *** type 2 diabetes patients,both a lipid disorder and cobalamin deficiency were associated with greater PN *** was no additive effect upon PN severity with presence of three or more comorbid ***: The presence of specific,and not general,comorbidities in patients with type 1 or 2 diabetes corresponds with greater PN severity.

关键词： Diabetic peripheral neuropathy Comorbidities Lipidemia Cobalamin methylmalonic acid