Age Factors ; Cardiopulmonary Bypass ; Child ; Child, Preschool ; Humans ; Infant ; Infant, Newborn ; P-Selectin ; blood ; Platelet Glycoprotein GPIb-IX Complex ; analysis

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 ; Adult ; Child ; DNA, Mitochondrial/genetics* ; Humans ; Male ; Mitochondrial Encephalomyopathies ; Mutation ; Stroke ; Young Adult

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Ascites ; pathology ; Biopsy ; Biopsy, Fine-Needle ; Child ; Cytodiagnosis ; methods ; Diagnosis, Differential ; Female ; Humans ; Leukemia-Lymphoma, Adult T-Cell ; pathology ; Lymphoma, B-Cell ; pathology ; Lymphoma, Large B-Cell, Diffuse ; pathology ; Lymphoma, T-Cell ; pathology ; Male ; Middle Aged ; Pleural Effusion ; pathology ; Young Adult

Adult ; Carcinoma, Hepatocellular ; surgery ; Cryosurgery ; Female ; Humans ; Liver Neoplasms ; surgery ; Male ; Middle Aged ; Pneumothorax, Artificial

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

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

Biomarkers, Tumor ; Bronchi ; metabolism ; DNA Methylation ; Genes, p16 ; Humans ; Lung Neoplasms ; diagnosis ; genetics ; Mucous Membrane ; metabolism ; Promoter Regions, Genetic ; Sensitivity and Specificity

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.

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

BACKGROUNDRecent studies suggest that circulating DNA may be a potential tumor marker for lung cancer, but most of these studies are conducted between healthy controls and lung cancer patients, with few or no benign lung disease patients included. The objective of this study was to evaluate the performance of plasma DNA quantification in discriminating lung cancer from the healthy and benign lung disease.

METHODSPlasma DNA was extracted with a QIAamp DNA Blood Midi kit and quantified by a PicoGreen dsDNA quantitation kit in 44 healthy individuals, 36 benign lung disease patients and 67 lung cancer patients. Discrimination power was evaluated by the receiver operating characteristic curve.

RESULTSPlasma DNA values were significantly increased in lung cancer patients, especially in those with metastases, and in benign lung disease patients compared with that in the healthy individuals (P < 0.001, respectively). The values in lung cancer patients were significantly increased compared with that in the benign lung disease patients (P < 0.001). The area under the curve was 0.96 [95% confidence interval (CI) 0.92 - 0.99] for the healthy versus lung cancer, 0.73 (95% CI 0.64 - 0.83) for lung cancer versus benign lung disease, and 0.86 (95% CI 0.80 - 0.91) for lung cancer versus the healthy and benign lung disease.

CONCLUSIONSPlasma DNA quantification has a strong power to discriminate lung cancer from the healthy and from the healthy and benign lung disease, less power to discriminate lung cancer from benign lung disease. Plasma DNA quantification may be useful as a screening tool for lung cancer.

DNA ; blood ; Humans ; Lung Neoplasms ; blood ; diagnosis ; pathology ; Neoplasm Staging