OBJECTIVETo identify the possible mutation at possible sites in different mitochondrial genes that leads to hearing loss in a large Chinese pedigree.

METHODSBlood samples from a Hunan pedigree were obtained with informed consent. Genomic DNA was extracted from peripheral blood leukocytes using kit. The target fragments were amplified and detected by polymerase chain reaction (PCR) and directly sequencing respectively.

RESULTSThe result of direct sequencing revealed the A1555G mutation in 12S rRNA gene was inherited in this pedigree and no one has A7445G mutation or other mutations in its neighborhood region.

CONCLUSIONSequence analysis confirmed that the pedigree carries the A1555G mutation. With some members ever exposure of aminoglycoside antibiotics, mutation of A1555G may play a pivotal role in the pathogenesis of hearing loss in the large pedigree.

Base Sequence ; China ; DNA Mutational Analysis ; DNA, Mitochondrial ; chemistry ; genetics ; Family Health ; Female ; Hearing Loss ; genetics ; Humans ; Male ; Marriage ; Pedigree ; Polymerase Chain Reaction ; RNA, Ribosomal ; genetics ; RNA, Transfer, Ser ; genetics

This study was aimed to explore the clinical features and prognosis outcome of childhood T-cell acute lymphoblastic leukemia (T-ALL). The clinical data of 38 cases of newly diagnosed T-ALL from Jan 2005 to Aug 2010 were analyzed retrospectively, and 78 cases of B-ALL with intermediate and high risk were collected as control group, then the sensitive rate of patients to prednisone pretreatment, complete remission (CR) rate at day 33 after induction chemotherapy, relapse rate and 3-year event-free survival (EFS) were compared between T-ALL and B-ALL children. The results showed that no significant statistic difference were found in distribution of age, infiltration of liver, spleen and lymph nodes as well as central nervous system disease, chromosome abnormality, expression level of fusion gene and so on between T-ALL and B-ALL groups (p > 0.05), but there were significant differences in sex and number of cases with WBC count ≥ 50 × 10(9)/L between them (p < 0.05). The sensitive rate of T-ALL and B-ALL patients to prednisone pretreatment was 51.9% and 89.3% respectively (p < 0.05). The ratio failed to achieve CR at day 33 after induction chemotherapy was 15.4% and 8.1% in the two groups (p > 0.05). The relapse rate of T-ALL and B-ALL cases was 30.8% (8/26) and 14.9% (11/74) respectively (p > 0.05). The time from CR to relapse was (9.78 ± 3.48) month and (21.28 ± 14.32) month (p < 0.05). The 3 year EFS of T-ALL cases with intermediate and high risk was (37.5 ± 17.1)% and (22.2 ± 9.8)%, while 3 year EFS of B-ALL cases was (66.7 ± 7)% and (51.7 ± 9.3)% respectively (p < 0.05) according to Kaplan-Meier survival curve. It is concluded that as compared with B-ALL cases, the male ratio and initial WBC count are higher, moreover the early response to prednisone pretreatment and 3 year EFS are poor in T-ALL cases, the prognosis outcome is poor also.
Adolescent ; Child ; Child, Preschool ; Disease-Free Survival ; Female ; Humans ; Immunophenotyping ; Infant ; Male ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma ; diagnosis ; immunology ; mortality ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; diagnosis ; immunology ; mortality ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma ; diagnosis ; immunology ; mortality ; Prognosis ; Retrospective Studies ; Survival Rate

OBJECTIVETo study the effects of benzo[a]pyrene (B[a]P) on capability of learning and memory and the content of amino acid neurotransmitters in hippocampus of rats.

METHODSThirty-two healthy, male SD rats were randomly divided into 4 groups according to their weights after intubated into ventricles: the solvent control group, 2.5, 5.0 and 10.0 mmol/L groups. 10 microl of B[a]P olive oil solutions, of different concentrations 2.5, 5.0 and 10.0 mmol/L, were injected into rats' lateral ventricles, respectively. Rats in the solvent control group were injected into the same volume of olive oil as that in B[a]P group. Rats' capability of learning and memory was tested by Morris water maze. The content of amino acid neurotransmitters in rats' hippocampus were determined by high performance liquid chromatogram with a fluorescence detector.

RESULTSCompared with the controls, the performances of learning and memory of rats decreased significantly in B[a]P treated groups (P<0.01). Levels of glutamate (Glu) were lower significantly in treated groups than that in controls (P<0.01). No significant differences were found in contents of aspartic acid (Asp), glycine (Gly) and aminobutyric acid (GABA) among the four groups.

CONCLUSIONB[a]P can damage rats' spatial learning and memory, and which could be related to decreased contents of excitatory amino acids in hippocampus.

Amino Acids ; metabolism ; Animals ; Benzo(a)pyrene ; toxicity ; Hippocampus ; drug effects ; metabolism ; Male ; Maze Learning ; drug effects ; Memory ; drug effects ; Neurotransmitter Agents ; metabolism ; Rats ; Rats, Sprague-Dawley

OBJECTIVETo investigate the mutation characteristics of ATP13A2 gene in Chinese patients with familial autosomal recessive early-onset parkinsonism (AREP).

METHODSMutations of ATP13A2 gene were screened by polymerase chain reaction combined with DNA direct sequencing in patients with familial AREP.

RESULTSNo pathogenic mutations in ATP13A2 gene were detected in this group. Six reported polymorphisms were identified. They were IVS6+70A>G, IVS12+66A>G, m.1849C>T, IVS20-56 G>A, m2671C>T and m2824G>A.

CONCLUSIONATP13A2 gene mutations may be rare in Chinese patients with familial autosomal recessive early-onset parkinsonism.

Adult ; Age of Onset ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; China ; epidemiology ; DNA Mutational Analysis ; Female ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Parkinsonian Disorders ; epidemiology ; genetics ; Pedigree ; Polymorphism, Genetic ; Proton-Translocating ATPases ; genetics

Objective To investigate the characteristics of the colon polyp in a northwest district of China. Methods 112 cases of patients from 1~18 years old, diagnosed with polyps by means of colonoscopies reference centers were followed-up from January 2015 to December 2016. The clinical variables evaluated in this study included: gender, age, symptoms, age at onset of symptoms, age at identification of the polyp, interval of time between the onset of symptoms and the endoscopic diagnosis of colonic polyps, and family history of colon polyp and/or colorectal cancer. The characteristics of the polyps also included: number, morphological type, diameter, histology, and distribution. The case records of these patients were reviewed. The demographics, clinical course, laboratory results, endoscopic and histopathological features, treatments, and outcomes were analyzed. Results In the 112 patients, the median age was 6.9 years, of which 64.3% (72/112) were male. All the patient had the symptom of hematochezia and just a little of the patients have the symptoms of abdominal pain, prolapse of anal polyp and diarrhea. 9.8% (11/112) was mild anemia and the anemia patient all had the symptom of hematochezia of more than 6 months and have no connection with the polyp location. Juvenile polyps were identified in 91.9% (103/112) patients, inflammatory polyp were identified in 7.1% (8/112) and 0.9% (1/112) were identified with adenoma. 1.8% (2/112) of the patient had the family history of colorectal polyp. Conclusions The morbidity of colorectal polyp in children and adolescents in our region is high. The male was significantly more common seen than female. A little proportion of the patient had the family history of colorectal polyp. The hematochezia could be seen in all patients A little proportion of the patient was mild anemia and the anemia patient all had the symptom of hematochezia of more than 6 months. Mainly the polyp was located in the rectum and sigmoid. Juvenile polyps were the major pathologic type and then the inflammatory polyp and adenoma. The adenoma may located in other place than rectum and sigmoid.

Adult ; Asian Continental Ancestry Group ; DNA Mutational Analysis ; Female ; Humans ; Male ; Middle Aged ; Parkinsonian Disorders ; genetics ; Pedigree ; Proton-Translocating ATPases ; genetics ; Young Adult

BACKGROUNDTo analyze the genetic and antigenic characteristics of human H5N1 virus isolated from the mainland of China.

METHODSThe hemagglutinin (HA) gene of human H5N1 virus were sequenced and analyzed.

RESULTSThe results of HA gene sequencing showed that all the virus isolates belong to the same group because of the high similarity, but they were different from the virus isolated from Thailand and Vietnam. The sequence data also showed that the receptor specificity and the connecting peptide between HA1 and HA2 are still avian influenza origin.

CONCLUSIONThe virus isolates from mainland of China until now belong to the same group and are different from the virus isolated from Thailand and Vietnam, and there is no evidence showing the human-avian influenza reassortant and recombination.

Animals ; Chick Embryo ; China ; Hemagglutinin Glycoproteins, Influenza Virus ; genetics ; Humans ; Influenza A Virus, H5N1 Subtype ; classification ; genetics ; isolation & purification ; Influenza, Human ; virology ; Phylogeny ; Reverse Transcriptase Polymerase Chain Reaction ; Sequence Analysis, DNA

Honokiol (HK) have extensive pharmacological activities, but its poor solubility and instability restricted its clinical application and efficacy exertion. HK nanosuspensions (HK-NSps) were designed in this study in order to solve the problems. HK-NSps were prepared by antisolvent precipitation method, using poly-vinylpyrrolidone (PVP) and bovine serum albumin (BSA) as a combined stabilizer. The particle size was measured using dynamic light scattering method, the morphology was observed by transmission electron microscopy. The size change and drug content of HK-NSps in various physiological media during the storage at ambient temperature was examined to evaluate their storage stability. Dialysis method was used to study their drug release in vitro. MTT assay was used to assess their in vitro cytotoxicity against 4T1 breast cancer cell line. Anti-tumor effect in vivo was also investigated in 4T1 tumor-bearing mice. HK-NSps were prepared with high drug loading content of 48.62%, nearly spherical shape and good storage stability. The average particle size was (83.40 ±1.042) nm, the polydispersity index (PDI) value was 0.223 ±0.011, the zeta potential was (-42.2 ±1.2) mV. HK-NSps showed sustained in vitro drug release and enhanced cytotoxicity in contrast to free HK against 4T1 cells (IC₅₀, 8.36 μg·mL^-1 vs 37.58 μg·mL^-1, P<0.05). The in vivo study on 4T1 tumor-bearing mice demonstrated that HK-NSps showed good dose-dependent tumor inhibition rate (TIR). In contrast to 4 mg·kg^-1 of PTX injection (TIR, 47.9%), medium and high dose of HK-NSps displayed improved therapeutic efficacy (TIR, 55.67% for 40 mg·kg^-1, 67.28% for 60 mg·kg^-1, P<0.05). In contrast, the high dose of HK crude drug (60 mg·kg^-1) had TIR of only 54.13% even administrated every day. In conclusion, HK-NSps were prepared with small size, high drug-loading capacity, and good stability. The improved in vitro and in vivo antitumor efficacy demonstrated that HK can be a promising antitumor drug in combination with nanosuspensions technology.

BACKGROUND: The optimal surgical approach for four-level cervical spondylotic myelopathy remains controversial. The purpose of this study was to compare clinical and radiological outcomes and complications between the anterior and posterior approaches for four-level cervical spondylotic myelopathy. METHODS: A total of 19 patients underwent anterior decompression and fusion and 25 patients underwent posterior laminoplasty and instrumentation in this study. Perioperative information, intraoperative blood loss, clinical and radiological outcomes, and complications were recorded. Japanese Orthopedic Association (JOA) score, 36-item short form survey (SF-36) score and cervical alignment were assessed. RESULTS: There were no significant differences in JOA scores between the anterior and posterior group preoperatively (11.6 ± 1.6 vs. 12.1 ± 1.5), immediately postoperatively (14.4 ± 1.1 vs. 13.8 ± 1.3), or at the last follow-up (14.6 ± 1.0 vs. 14.2 ± 1.1) (P > 0.05). The JOA scores significantly improved immediately postoperatively and at the last follow-up in both groups compared with their preoperative values. The recovery rate was significantly higher in the anterior group both immediately postoperatively and at the last follow-up. The SF-36 score was significantly higher in the anterior group at the last follow-up compared with the preoperative value (69.4 vs. 61.7). Imaging revealed that there was no significant difference in the Cobb angle at C2-C7 between the two groups preoperatively (-2.0° ± 7.3° vs. -1.4° ± 7.5°). The Cobb angle significantly improved immediately postoperatively (12.3° ± 4.2° vs. 9.2° ± 3.6°) and at the last follow-up (12.4° ± 3.5° vs. 9.0° ± 2.6°) in both groups compared with their preoperative values (P = 0.00). Three patients had temporary dysphagia in the anterior group and four patients had persistent axial symptoms in the posterior group. CONCLUSIONS Both the anterior and posterior approaches were effective in treating four-level cervical spondylotic myelopathy in terms of neurological clinical outcomes and radiological features. However, the JOA score recovery rate and SF-36 score in the anterior group were significantly higher. Persistent axial pain could be a major concern when undertaking the posterior approach.
Blood Loss, Surgical ; Cervical Vertebrae/surgery* ; Decompression, Surgical ; Humans ; Laminoplasty ; Retrospective Studies ; Spinal Cord Diseases/surgery* ; Spinal Fusion ; Spondylosis/surgery* ; Treatment Outcome

BackgroundPlacebo was defined as any therapy that is used for its nonspecific psychological and physiologic effect but has no specific pharmacologic impact on the condition being treated. Besides medication therapies, studies have found that the optimal dietary approach as well as physical activity and education are useful to control hyperglycemia in patients with type 2 diabetes (T2DM). The aim of this study was to evaluate the placebo effects of antidiabetic therapies in Asian and Caucasian T2DM patients and make a comparison between the two ethnicities.

MethodsA search using the MEDLINE database, EMBASE, and Cochrane Database was performed, from when recording began until December 2016. The main concepts searched in English were sulfonylurea (SU); alpha glucosidase inhibitors (AGI); metformin (MET); thiazolidinediones (TZD); dipeptidyl peptidase-4 inhibitors (DPP-4i); sodium-glucose cotransporter 2 inhibitors (SGLT2i); glucagon-like peptide-1 receptor agonist (GLP-1RA); type 2 diabetes (T2DM); placebo controlled; and randomized controlled trials. Using the Cochrane instrument, we evaluated the adequacy of randomization, allocation concealment procedures, and blinding.

ResultsThis study included 63 studies with a total of 7096 Asian patients involved and 262 studies with a total of 27,477 Caucasian patients involved. In Caucasian population, the use of placebo led to significant reductions of glycosylated hemoglobin (HbA1c), -0.683% (P = 0.008) in SU monotherapy treatment, -0.193% (P = 0.001) in DPP-4i treatment, and -0.230% (P < 0.001) in SGLT2i treatment, respectively. In Asian population, the use of placebo resulted in significant decreases of HbA1c, -0.162% (P = 0.012) in DPP-4i treatment and -0.269% (P = 0.028) in GLP-1RA add-on therapy, respectively. The placebo also significantly reduced body weight. In Caucasian population, placebo use resulted in 0.833 kg (P = 0.006) weight loss by SU treatment and 0.953 kg (P = 0.006) weight loss by GLP-1RA treatment. In Asian population, the placebo led to a weight change of 0.612 kg (P < 0.001) by GLP-1RA analog treatment. The changes of HbA1c and weight due to the placebo effect in other treatments were not significant in both Asian and Caucasian population. Comparisons of the placebo effect on HbA1c change and weight change in each treatment group indicated that no significant difference was found between Asian and Caucasian population.

ConclusionsThe overall differences of the placebo effect on HbA1c changes as well as on body weight changes were not significant between Asian and Caucasian T2DM patients. The placebo effect on HbA1c changes and weight changes was not associated with baseline age, gender, baseline body mass index, baseline HbA1c, duration of diabetes, or study duration.