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Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with late-onset Combined Methylmalonic Aciduria and Homocystinemia, Cobalamin C Type

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Chinese Medical Journal 2017年第4期130卷 492-494页

作者： Li-Yong Wu Hong An Jia Liu Jie-Ying Li Yue Han Ai-Hong Zhou Fen Wang Jian-Ping Jia Department of Neurology Xuan Wu Hospital Capital Medical University Beijing 100053 China Department of Neurology The First Clinical College of Capital Medical University Beijing 100069 China

Methylmalonic aciduria （MMA） is an autosomal recessive disorder of cobalamin （cbl） metabolism. Cobalamin C （cblC） disease is the most common type of MMA and is characteristically concurrent with homocystinemia （HCY） due to impaired synthesis of two active forms of cbl, namely adenosylcobalamin （AdoCbl） and methylcobalamin （MeCbl）. The estimated worldwide incidence of MMA ranges between 1：48,000 and 1：250,000. Mutations of the MMA and HCY type C protein （MMACtfC） gene are responsible for cblC disease and were first identified by Lerner-Ellis et aL in *** the year 2016, more than 82 different MMACHC gene mutations have been reported （http：// ***/ac/***）. Among these mutations, c.609G〉A （p.W203X） was reported to be the most frequent cblC mutation in Chinese patients.

关键词： Homocystinemia late-onset Manic-depressive Psychosis Methylmalonic Aciduria Methylmalonic Aciduria and Homocystinemia Type C Protein

Molecular Genetic Analysis of Autosomal Dominant late-onset Cataract in a Chinese Family

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Journal of Huazhong University of Science and Technology(Medical Sciences) 2010年第6期30卷 792-797页

作者：杨国华钟山张先荣彭碧文黎俊柯铁徐华 Department of Urology Tongji HospitalTongji Medical CollegeHuazhong University of Science and Technology Department of Medical Genetics School of Medical ScienceWuhan University Center for Human Genome Research College of Life Science and TechnologyHuazhong University of Science and Technology

Congenital cataract is a highly heterogeneous disorder at both the genetic and the clinical-phenotypic levels.A unique cataract was observed in a 4-generation Chinese family,which was characterized by autosomal dominant inheritance and *** in the 13 known genes (CRYAA,CRYAB,CRYBB1,CRYBB2,CRYGC,CRYBA1/A3,CRYGD,Connexin50,Connexin46,intrinsic membrane protein LIM2,cytoskeletal protein BFSP2,the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts,but the exact molecular basis and underlying mechanisms of congenital cataract still remain *** study was designed to find whether these 13 genes developed any mutation in the family members and to identify the disease-causing *** chain reaction (PCR) and direct DNA sequence analysis were carried out to detect the 13 *** results showed that no mutation causing amino acid alternations was found in these potential candidate genes among all patients in the family,and only several single-nucleotide polymorphisms (SNPs) were identified.A transitional mutation in the fourth intron of CRYBB2 and some silent mutations in the first exon of BFSP2 and CRYGD were found in the cataract family,but further study showed that these mutations could also be found in normal *** was concluded that some unidentified genes may underlie the occurrence of late-onset cataract in this family.A genome-wide screening will be carried out in the next study.

关键词： cataract late-onset gene sequencing mutation

A Rare Cause of late-onset Epilepsy: Linear Scleroderma en Coup de Sabre

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Case Reports in Clinical Medicine 2016年第4期5卷 150-153页

作者： Haoyue Zhu Xiuli Shang Department of Neurology The First Affiliated Hospital of China Medical University Shenyang China

late-onset Epilepsy (LOE), with onset in adult life, is often attributed to cerebrovascular disease and intracranial tumor. Herein we present a LOE patient with history of Linear Scleroderma en Coup de Sabre (LScs) and abnormal cranial MRI signs. Curiously, his band-like skin lesion, presenting on the forehead, was in line with the surface projection of the intracranial focus shown in MRI. This gave a clue of the link between the skin lesion and the intracranial focus and the epilepsy. To sum up, it exposed a rare cause of LOE. Moreover, it underlined the significance of recognizing the cause to be associated with a substantially increased risk of developing epilepsy.

关键词： Epilepsy late-onset Linear Scleroderma en Coup de Sabre

Alzheimer’s disease:a tale of two diseases?

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Neural Regeneration Research 2021年第10期16卷 1958-1964页

作者： Eleonora Nardini Ryan Hogan Anthony Flamier Gilbert Bernier Whitehead Institute for Biomedical Research CambridgeMAUSA Stem Cell and Developmental Biology Laboratory Hôpital Maisonneuve-RosemontMontrealQCCanada Department of Neurosciences University of MontrealMontrealQCCanada

Sporadic late-onset Alzheimer’s disease(SLOAD)and familial early-onset Alzheimer’s disease(FEOAD)associated with dominant mutations in APP,PSEN1 and PSEN2,are thought to represent a spectrum of the same disorder based on near identical behavioral and histopathological ***,FEOAD transgenic mouse models have been used in past decades as a surrogate to study SLOAD pathogenic mechanisms and as the gold standard to validate drugs used in clinical ***,such research has yielded little output in terms of therapeutics targeting the disease’s development and *** this short review,we interrogate the widely accepted view of one,dimorphic disease through the prism of the Bmi1+/–mouse model and the distinct chromatin signatures observed between SLOAD and FEOAD brains.

关键词： aging Alzheimer’s disease BMI1 epigenetics familial late-onset sporadic

Current Situation and Reconsideration on Study of Integrated Chinese and Western Medicine Andrology

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Chinese Journal of Integrative Medicine 2020年第5期26卷 388-392页

作者： JIN Bao-fang YANG Wen-tao SUN Da-lin LI Hong-jun Andrology Departm ent of Integrative Medicine Zhongda HospitalSchool of MedicineSoutheast UniversityNanjing(210009)China Department of Andrology Ruikang Hospital Affiliated to Guangxi University of Chinese MedicineNanning(530011)China Department of Urology Peking Union Medical College HospitalPeking Union Medical CollegeChinese Academy of Medical SciencesBeijing(100730)China

The development of Chinese medicine and Western medicine andrology is based on different social background and academic systems,either Chinese medicine or Western medicine andrology has their limitations,therefore,integration of Chinese and Western medicine(ICWM)andrology is in a great *** more than 30 years of development,andrology has made great achievements in the construction of specialized academic association,holding academic conferences and publication of academic monographs,and the research progress on this field is mainly in the combination of disease and syndrome,microdifferentiation of symptoms and signs and basic research ***,the comprehensive theoretic system of ICWM andrology has not yet established,and the related studies are still on the primary *** the future studies,great efforts still need to be made to expand the methods for the investigation of ICWM,and make innovations in the field of andrology.

关键词： integrative medicine andrology late-onset hypogonadism male infertility chronic prostatitis

Early-onset Alzheimer’s Disease and Metabolic Dysfunction, a Comparative Review

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Advances in Alzheimer's Disease 2018年第1期7卷 1-11页

作者： Julie Anne Griffith Marie Kelly-Worden Department of Biology Ball State University Cooper Life Science Building Muncie IN USA

Alzheimer’s disease is quickly becoming one of the most known diseases in the country due to its devastating effects and lack of treatment options. Within this lethal disease, there is a smaller group, those individuals that are diagnosed with early-onset Alzheimer’s disease. It is understood that these individuals see faster effects of the disease and die considerably sooner, but it is not understood why. This review compares the early-onset (EOAD) and late-onset (LOAD) types to try and determine some of the most blaring differences between the two. The genetic basis linking EOAD and LOAD has been the apolipoprotein E gene (APOE) to indicate metabolic alteration with the ε4 allele specifically. The topographical atrophy disparities between EOAD and LOAD supported the more noticeable cognitive differences between the two Alzheimer’s disease categories. The faster and wider spread atrophy of EOAD patients correlates with the difficulty they experience with attention, language, visuo-spatial, and executive functions. Finally, brain metabolism differs between both AD subtypes as well, where EOAD indicates the wide spread damage and metabolic breakdown across more diverse regions of the brain.

关键词： Alzheimer’s Disease Early-onset late-onset Glucose Metabolism

Postoperative chemotherapy use and survival in non-high-risk young and high-risk old-aged patients with stageⅡcolon cancer

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Holistic Integrative Oncology 2023年第1期2卷 61-70页

作者： Tian Jin Yingshuang Zhu Wei Lu Chenqin Le Lijuan Wang Qian Xiao Kefeng Ding Department of Colorectal Surgery and Oncology(Key Laboratory of Cancer Prevention and Intervention China National Ministry of EducationKey Laboratory of Molecular Biology in Medical SciencesZhejiang ProvinceChina)The Second Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiangChina Zhejiang Provincial Clinical Research Center for CANCER ZhejiangChina Cancer Center of Zhejiang University ZhejiangChina Centre for Global Health Usher InstituteUnversity of EdinburghEdinburghUK

Purpose Intensive postoperative chemotherapy treatment use in early-onset colon cancer and late-onset colon cancer remains to be defined and their effects on prognosis were *** study aims to investigate whether intensive adjuvant chemotherapy for stageⅡcolon cancer would result in matched survival improvement in young patients(onset colon cancer(non-HREOCC),and those aged 70 to 85 years with risk factors were defined as high-risk late-onset colon cancer(HRLOCC).Kaplan–Meier(KM)method with log-rank test was performed to calculate the overall survival(OS)and cancer-specific survival(CSS).Multivariate Cox model was used to estimate the association of adjuvant chemotherapy with CSS by adjusting potential confounding *** Of 55,366 eligible stageⅡcolon cancer patients,3341 non-HREOCC patients and 11,722 HRLOCC patients were included.37.68%and 16.8%of patients received adjuvant chemotherapy among non-HREOCC and HRLOCC patients,*** non-HREOCC patients,there was no significant association between adjuvant chemotherapy and CSS(HR=1.09,95%CI0.83–1.44).For HRLOCC patients,adjuvant chemotherapy was associated with a better CSS(HR=0.88,95%CI0.79–0.99).Conclusion Our findings suggested that potential overuse of adjuvant chemotherapy among non-high-risk young patients with stageⅡcolon cancer did not lead to survival improvement,and caution should be called when using chemotherapy in these ***,chemotherapy can be used appropriately for high-risk stageⅡcolon cancer patients aged 70 to 85 years.

关键词： StageⅡcolon cancer Early-onset late-onset Adjuvant chemotherapy Prognosis

Clinical Significance of Pulmonary Function Tests in Long-Term Survivors after Myeloablative Allogeneic Hematopoietic Stem Cell Transplantation

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Open Journal of Blood Diseases 2013年第1期3卷 6-12页

作者： Kenji Matsumoto Satomi Ito Wataru Yamamoto Eriko Ogusa Atsuo Maruta Yoshiaki Ishigatsubo Heiwa Kanamori Department Internal Medicine and Clinical Immunology Yokohama City University Graduate School of Medicine Yokohama Japan. Department of Hematology Kanagawa Cancer Center Yokohama Japan

We retrospectively assessed long-term pulmonary function in adults surviving for ≥5 years after myeloablative allogeneic hematopoietic stem cell transplantation and identified risk factors for late-onset noninfectious pulmonary complications. Among 174 patients undergoing transplantation for hematologic malignancies between May 1994 and December 2004, 81 long-term survivors were evaluated. Pulmonary function tests (PFTs) were performed before conditioning, 3 months and 1 year after transplantation, and then annually. Eight patients (10%) had abnormal pulmonary function before transplantation, but this was not associated with late changes in PFTs. Patients with chronic graft-versus-host disease (GVHD) showed a significant decline of lung function after 3 years when compared with patients without chronic GVHD. Abnormal pretransplantation lung function was associated with pulmonary chronic GVHD according to National Institutes of Health criteria (score 0, n = 58;score 1, n = 14;score 2, n = 6;score 3, n = 3). Five patients with late-onset noninfectious pulmonary complications showed a decline of lung function at 1 year after transplantation. Only chronic GVHD was significantly related to late-onset noninfectious pulmonary complications. In conclusion, abnormal lung function before transplantation may be associated with a decline in pulmonary function within 1 year after transplantation, but late-onset noninfectious pulmonary complications could not be predicted from pretransplantation lung function.

关键词： Long-Term Survivor Pulmonary Function Tests late-onset Noninfectious Pulmonary Complications Myeloablative Allogeneic Stem Cell Transplantation