2.Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation.
Yue HOU ; Xu Tong ZHAO ; Zhi Ying XIE ; Yun YUAN ; Zhao Xia WANG
Journal of Peking University(Health Sciences) 2020;52(5):851-855
OBJECTIVE:
Mitochondrial deoxyribonucleic acid (mtDNA) 8344 A>G (m.8344A>G) mutation is the common mutation associated with mitochondrial myoclonus epilepsy with ragged-red fibers (MERRF) syndrome. Herein we report a rare case with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes/MERRF/Leigh (MELAS/MERRF/Leigh) overlap syndrome caused by m.8344A>G mutation.
METHODS:
The clinical and imaging data of the patient were collected and an open muscle biopsy was carried out. We further employed molecular genetic analyses to detect mtDNA mutation in the proband and his mother. And then a clinical and neuroimaging follow-up was performed.
RESULTS:
This patient was a 25-year-old male, who developed exercise intolerance since the age of 6. At age 10, he suffered from acute episodes of hemianopia, and cranial magnetic resonance imaging (MRI) showed occipital stroke-like lesions and cranial magnetic resonance spectroscopy (MRS) revealed a lactate peak corresponding to the lesion. After that the patient presented slowly progressive psychomotor decline. He had myoclonic seizures and cerebellar ataxia since the age of 12. At age 21, he was admitted to our hospital because of confusion and cranial MRI revealed symmetrical lesions in bilateral posterior putamen, thalami and midbrain. Then repeated MRI showed progression of original lesions and new frontal multiple stroke-like lesions. Symptomatic and rehabilitation treatment relieved his condition. Follow-up cranial MRI at age 24 showed the lesions in basal ganglia and thalami diminished, and the midbrain lesions even completely vanished. Muscle pathology indicated the presence of numerous scattered ragged-red fibers (RRF), suggestive of a mitochondrial disorder. Polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) detected the m.8344A>G mutation of the MT-TK gene encoding mitochondrial transfer RNA for lysine in the patient's blood. Next generation sequencing (NGS) of the whole mitochondrial genome identified that the proportion of m.8344A>G was 90%, and no other mtDNA mutation was detected. Sanger sequencing further identified this mutation both in the proband and his mother's blood, although the mutation load was much lower in his mother's blood with approximately 10% heteroplasmy.
CONCLUSION
The present study is the first to describe a patient with m.8344A>G mutation in association with the MELAS/MERRF/Leigh overlap syndrome, which expands the phenotypic spectrum of the m.8344A>G mutation.
Acidosis, Lactic
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Adult
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Child
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DNA, Mitochondrial/genetics*
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Humans
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Male
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Mitochondrial Encephalomyopathies
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Mutation
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Stroke
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Young Adult
3.Application of cell block technology in pathologic diagnosis of hematolymphiod neoplasms.
Yuan SHI ; Qin HU ; Yang ZHOU ; Ying-yong HOU ; Lu-de SUN ; Hong-xian XIE ; Akesu SUJIE ; Yun-shan TAN
Chinese Journal of Pathology 2010;39(8):553-554
Adolescent
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Adult
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Aged
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Aged, 80 and over
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Ascites
;
pathology
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Biopsy
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Biopsy, Fine-Needle
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Child
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Cytodiagnosis
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methods
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Diagnosis, Differential
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Female
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Humans
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Leukemia-Lymphoma, Adult T-Cell
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pathology
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Lymphoma, B-Cell
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pathology
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Lymphoma, Large B-Cell, Diffuse
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pathology
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Lymphoma, T-Cell
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pathology
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Male
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Middle Aged
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Pleural Effusion
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pathology
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Young Adult
4.Pharmacokinetics and distribution of superoxide dismutase liposomes in rats.
Yun-long ZHANG ; Ying XIE ; Hui-juan WANG ; Xin-pu HOU ; Yan LIU
Acta Pharmaceutica Sinica 2005;40(2):173-177
AIMTo evaluate the effects of surfactants on the pharmacokinetics and distribution in rats after intravenous administration of SOD liposomes.
METHODSThe liposomes were prepared by reverse phase evaporation method. The activity of SOD was assayed by method of xanthine oxidase.
RESULTSThe T1/2 of SOD solution, common SOD liposome, SOD liposomes modified by DSPE-PEG2000 and Tween 80 were 0.25, 0.34, 0.66 and 0.41 h, respectively; AUC were 12.48, 24.66, 41.16 and 33.02 microg x h x mL(-1), respectively. Compared with the common liposome, the liposomes modified by DSPE-PEG and Tween 80 decreased the content of SOD in liver and spleen, but increased in brain.
CONCLUSIONThe three kinds of liposomes could increase T1/2 and AUC in some extent, especially in PEG-L group. Tween-L could increase the SOD content in brain, and PEG-L could decrease the SOD content in the liver and spleen compared with the common liposome.
Animals ; Area Under Curve ; Brain ; enzymology ; Injections, Intravenous ; Liposomes ; Liver ; enzymology ; Male ; Polysorbates ; pharmacology ; Random Allocation ; Rats ; Rats, Sprague-Dawley ; Spleen ; enzymology ; Superoxide Dismutase ; administration & dosage ; pharmacokinetics ; Surface-Active Agents ; pharmacology ; Tissue Distribution
6.Clinical study on the changes of the tumor target volume and organs at risk in helical tomotherapy for nasopharyngeal carcinoma.
Na LU ; Lin-Chun FENG ; Bo-Ning CAI ; Jun HOU ; Yun-Lai WANG ; Chuan-Bin XIE
Chinese Medical Journal 2012;125(1):87-90
BACKGROUNDHelical tomotherapy (HT) is a new image-guided intensity-modulated radiation therapy (IMRT). The aim of this study was to evaluate the changes in the target volume and organs at risk (OARs) of patients with nasopharyngeal carcinoma (NPC) during helical tomotherapy.
METHODSForty-three patients with NPC and treated via HT from March 2008 to January 2010 were reviewed retrospectively. Repeated CT scanning and plan adaptation were conducted at the 20th fraction during radiotherapy. The volumetric differences between the two scans were evaluated for nasopharyngeal tumor and retro-pharyngeal lymph nodes (GTVnx), neck lymph nodes (GTVnd), and parotid glands, as well as the axial diameter of the head.
RESULTSThe median interval between the two scans was 25 days (23 - 28 days). The volumetric decrease in GTVnx was 30.1% (median, 29.8%) and in GTVnd 41.6% (median, 45.9%). The variation in the GTVnd volume was correlated with the weight loss of the patient. The volume of the left parotid gland decreased by 35.5% (median, 33.4%) and of the right parotid glands decreased by 36.8% (median, 33.5%). The axial diameter of the head decreased by 9.39% (median, 9.1%).
CONCLUSIONSThe target volume and OARs of patients with NPC varied considerably during HT. These changes may have potential dosimetric effects on the target volume and/or OARs and influence the clinical outcome. Repeated CT scanning and replanning during the HT for NPC patients with a large target volume or an obvious weight loss are recommended.
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Carcinoma ; Child ; Female ; Humans ; Male ; Middle Aged ; Nasopharyngeal Neoplasms ; radiotherapy ; Organs at Risk ; Radiotherapy, Intensity-Modulated ; Retrospective Studies ; Young Adult
8.Prevalence and clinical characteristics of Coronavirus NL63 infection in children hospitalized for acute lower respiratory tract infections in Changsha
Fei ZHANG ; Bing ZHANG ; Zhi-Ping XIE ; Han-Chun GAO ; Xin ZHAO ; Li-Li ZHONG ; Qiong-Hua ZHOU ; Yun-De HOU ; Zhao-Jun DUAN
Chinese Journal of Experimental and Clinical Virology 2012;26(2):133-135
Objective The main objective of this study was to explore the prevalence and clinical characteristics of human coronavirus NL63 infection in hospitalized children with acute lower respiratory tract infection (ALRTI) in Changsha.Methods Nasopharyngeal aspirates (NPA) samples were collected from 1185 hospitalized children with ALRTI at the People's Hospital of Hunan province,between September 2008 and October 2010.Reverse transcriptase polymerase chain reaction (RT-PCR) was employed to screen for coronavirus NL63,which is a 255 bp fragment of a part of N gene.All positive amplification products were confirmed by sequencing and compared with those in GenBank.Results The overall frequency of coronavirus NL63 infection was 0.8%,6 (60%) out of the coronavirus NL63 positive patients were detected in summer,2 in autumn,1 in spring and winter,respectively.The patients were from 2 months to two and a half years old.The clinical diagnosis was bronchopneumonia ( 60% ),bronchiolitis ( 30% ),and acute laryngotracheal bronchitis( 10% ).Four of the 10 cases had critical illness,4 cases had underlying diseases,and 7 cases had mixed infection with other viruses. The homogeneity of coronavirus NL63 with those published in the GenBank at nucleotide levels was 97%-100%.Conclusion Coronavirus NL63 infection exists in hospitalized children with acute lower respiratory tract infection in Changsha.Coronavirus NL63 infections are common in children under 3 years of age.There is significant difference in the infection rate between the boys and the girls:the boys had higher rate than the girls.The peak of prevalence of the coronavirus NL63 was in summer.A single genetic lineage of coronavirus NL63 was revealed in human subjects in Changsha.Coronavirus NL63 may also be one of the lower respiratory pathogen in China.
9.Literature review and analysis of the development of health outcomes assessment instruments in Chinese medicine.
Feng-bin LIU ; Zheng-kun HOU ; Yun-ying YANG ; Zheng-zheng ZHANG ; Di XIE ; Nelson XIE ; Hong Thach NGUYEN
Journal of Integrative Medicine 2013;11(2):80-89
OBJECTIVETo evaluate the development of health outcomes assessment instruments in Chinese medicine.
METHODSA comprehensive literature search for all published articles in China National Knowledge Infrastructure Database, Chongqing VIP Database and WANFANG Data was conducted. The studies that met the inclusion and exclusion criteria were used to extract information according to a predesigned assessment instrument.
RESULTSA total of 97 instruments for health outcome assessment in Chinese medicine were identified. Of these questionnaires, 7 were generic, 12 were condition-specific and 78 were disease-specific. All instruments were suitable for adults, children, and both men and women. These instruments aimed to evaluate the health-related quality of life, signs and symptoms as well as patient satisfaction and doctor-reported outcome. However, the descriptions were poorly constructed for some of the most basic parameters, such as the domains and items, administrative mode, response options, memory recall periods, burden evaluation, format, copyright, content validity, and other properties.
CONCLUSIONThe instrument development for health outcomes assessment in Chinese medicine is increasing rapidly; however, there are many limitations in current methodologies and standards, and further studies are needed.
Bibliography of Medicine ; China ; Databases, Factual ; Humans ; Medicine, Chinese Traditional ; Outcome Assessment (Health Care) ; methods
10.Factors associated with HBeAg seroconversion in chronic hepatitis B patients treated with interferon alfa-2a.
Ming-hui LI ; Yao XIE ; Yun-zhong WU ; Dao-zhen XU ; Zhi-meng LU ; Jin-lin HOU ; Ji-dong JIA ; Yu-ming WANG ; Shu-lin ZHANG ; Hong REN ; Xin-Yue CHEN
Chinese Journal of Hepatology 2007;15(7):481-484
OBJECTIVEThe aim of this paper was to investigate the factors associated with viral response and HBeAg seroconversion and the relationship between them at different stages of interferon treatment in HBeAg-positive chronic hepatitis B patients.
METHODSPEG-IFN alfa-2a was injected subcutaneously in doses of 180 microg once a week for 48 weeks to HBeAg-positive chronic hepatitis B patients, and the patients were followed for another 24 weeks after the treatment. The serum HBV DNA load was measured by real-time quantitative PCR assay. Microparticle enzyme immunoassay analysis (MEIA) was then carried out by an automatic enzyme immunoassay analysis instrument to measure HBeAg and anti-HBe. Virological response and HBeAg seroconversion rates, and the factors associated with them were analyzed.
RESULTSThe differences in ALT baselines between viral responding and non-responding groups were significant at treatment time and at the end of the follow-up period. These differences were also significant in patients with HBeAg seroconversion at 12 weeks and at the end of the follow-up period compared with the non-conversion group. No significant difference of HBV DNA baseline was observed between the HBeAg seroconversion and non-conversion group. At 12, 24 and 48 weeks, in patients with viral response during the treatment, their HBeAg seroconversion rates were 43.8%, 21.4% and 18.9% respectively; their respective HBeAg seroconversion rates remaining at 72 weeks were 42.9%, 33.3% and 27.6%. HBeAg seroconversion was related to HBV DNA negativity at 48 weeks treatment in the multivariate analysis (OR=2.15, 95.0% CI=1.744-2.664, P less than 0.01).
CONCLUSIONSViral response and early and sustained HBeAg seroconversion were associated with pretreatment ALT levels. HBeAg seroconversion was related to viral response during IFN treatment, but not to the baseline HBV DNA load.
Adolescent ; Adult ; Antiviral Agents ; therapeutic use ; Female ; Hepatitis B e Antigens ; blood ; Hepatitis B virus ; drug effects ; Hepatitis B, Chronic ; blood ; drug therapy ; virology ; Humans ; Interferon-alpha ; therapeutic use ; Male ; Middle Aged ; Polyethylene Glycols ; therapeutic use ; Recombinant Proteins ; Young Adult