Analysis of clinical features, metabolic profiling and gene mutations of patients with ornithine transcarbamylase deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the clinical features, metabolic profiling and gene mutations of patients with ornithine transcarbamylase deficiency (OTCD) and explore the molecular pathogenesis of OTCD in order to provide a solution for molecular diagnostics and genetic counseling.</p><p><b>METHODS</b>Clinical data of 3 neonates were analyzed. The amino acids level in blood was analyzed with mass spectrum technology. PCR was used to amplify all the 10 exons of OTC gene. The PCR products were directly sequenced to detect the mutations.</p><p><b>RESULTS</b>All of the 3 cases had neonatal onset and showed poor reaction, feeding difficulty, convulsion and neonatal infection. Citrulline levels were significantly decreased. Case 1 had a missense mutation of Y183C. Case 2 showed a missense mutation of V339G in exon 10. And a missense mutations of W332S in exon 9 was detected in case 3.</p><p><b>CONCLUSION</b>Analysis of OTC gene sequences can be used for the diagnosis of OTCD and screening of asymptomatic carriers. Mutation analysis is important for prenatal diagnosis of individuals with a positive family history and genetic counseling. The V339G and W332S mutations have been discovered for the first time. Patients with such mutations may have onset of the disease during neonatal period.</p>

Relationship of congenital urogenital abnormalities and chromosomal abnormalities: a report of 200cases / 中华全科医师杂志

A total of 200 outpatients with congenital urogenital abnormalities were recruited.Peripheral blood from each patient had mixed lymphocyte culture and chromosome karyotype was analyzed.Among them,22 (11％) cases showed abnormal chromosomal karyotypes.The aberrations included abnormal chromosome number (n =13),abnormal chromosome structure (n =8) and sex reversal syndrome (n =1).Chromosomal aberrations are important causative factors of congenital urogenital abnormalities.

Apoptosis inducing effect of ponicidin in leukemia K562 cells and its mechanisms of action / 中国中药杂志

<p><b>OBJECTIVE</b>To investigate the apoptosis inducing effects of ponicidin (PON) on leukemic K562 cells and its mechanisms of action.</p><p><b>METHOD</b>K562 cells in culture medium in vitro were given different concentrations of PON (10-50 micromol x L(-1)) for 24, 48 and 72 h. The inhibitory rate of the cells was measured by MTT assay, cell apoptotic rates were detected by flow cytometry (FCM) using Annexin V staining after K562 cells were treated with different concentrations of PON for 72 hours, and cell morphology was observed by Wright-Giemsa staining. Western blot was used to detect caspase-3 and poly(ADP-ribose) polymerase (PARP) expression, and the protein levels in mitogen-activated protein kinase signaling pathways (MAPKs, p-P38, p-ERK and p-JNK) as well as p-AKT and p-P85 in PI3K/AKT signaling pathways were also detected.</p><p><b>RESULT</b>PON (over 30 micromol x L(-1)) could inhibit the growth of K562 cells in both time- and dose-dependent manner. FCM analysis revealed that apoptotic cells were gradually increased in a dose-dependent manner after treatment for 72 hours, and that marked morphological changes of cell apoptosis such as condensation of chromatin was clearly observed by Wright-Giemsa staining after treatment by 50 micromol x L(-1) PON. Western blot showed cleavage of the caspase-3 zymogen protein (32 kD), with the appearance of its 17 kD subunit, and a cleaved 89 kD fragment of 116 kD PARP was also found. Furthermore, Western blotting also showed that expression of p-AKT and p-P85 in PI3K/AKT signaling pathways was downregulated dramatically whereas the expression of p-P38 as well as p-ERK and p-JNK remained unchanged after the cells were treated by PON for 48 h.</p><p><b>CONCLUSION</b>The results demonstrate that PON exhibits in vitro anti-leukemia effect by induction of apoptosis in K562 cells, and that PON induced apoptosis in K562 cells mainly related to activation of caspase-3 as well as inactivation of PI3K/AKT signaling pathway via down regulation of the expression of p-AKT and p-P85 protein levels. These results provide strong laboratory evidence for further anti-leukemia trials of PON.</p>

Detection of the genetic abnormalities in patients with mental retardation using multiplex ligation-dependent probe amplification assay / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between subtelomeric rearrangements and idiopathic mental retardation (MR).</p><p><b>METHODS</b>Thirty unrelated patients were recruited using strict selection criteria. Patients were screened by multiplex ligation-dependent probe amplification (MLPA) for subtelomeric imbalance.</p><p><b>RESULTS</b>Five subtelomeric deletions/duplications were identified. They were: 4p deletion, 21p duplication, 10p duplication combined with 4p deletion, 15p duplication, and 9p deletion combined with 3p duplication. These subtelomeric rearrangements were previously unidentified by conventional technique.</p><p><b>CONCLUSION</b>Children with unexplained mental retardation are related with subtelomeric rearrangements. MLPA is a rapid and an effective technique for detecting genetic abnormalities in patients with idiopathic MR.</p>

Apoptosis inducing effect of peroxisome proliferator-activated receptor γ agonist on K562 cells and its mechanism / 国际肿瘤学杂志

Objective To investigate the apoptosis inducing effect of peroxisome proliferator-activated receptor r(PPARr)agomst on leukemic K562 cells and its mechanisms of action.Methods K562 cells in culture medium in vitro were given different concentrations of PPARragonist rosiglitazone(RGZ)(20-80 umol/L)for O,24,48 and 72h The inhibitory rate of the cells were measured by MTT assay,cell apoptosis was detected by Annexin V/PI staining,and the expression of P53 protein as well as the activity of caspase-3 were also detected.Results RGZ(over 40umoL/L)could inhibit the growth of K562 cells and cause apopto-sis remarkably,the suppression Was both in time-and dose-dependent manner.The expression of P53 pmtein was upregulated and the activity of caspase-3 Was increased concomitantly after the cells werle treated by RGZ.Conclusion PPARr agonist RGZ(over 40 umol/L)can induce apoptosis on K562 cells signifieantly,upregu-lation the expression of P53 protein as well as increasing caspase-3 activity may be one of its most important mechamisms.

Apoptosis inducing effects of oridonin on THP-1 cells and its mechanisms of action / 肿瘤研究与临床

Objective To investigate the apoptosis inducing effects of oridonin on leukemic THP-1 cells and its mechanisms of action. Methods THP-1 cells in culture medium in vitro were given different concentrations of oridonin (16～56 μmol/L) for 24, 48 and 72 h. The inhibitory rate of the cells were measured by MTT assay, apoptotic morphology was observed by Hoechst 33258 staining, and Annexin V/PI staining was used to detect cell apoptosis by flow cytometry (FCM). Caspase-3 and poly (ADP-ribose) polymerase (PARP) expression were detected by Western blotting. Results Oridonin (over 32 μmol/L) could inhibit the growth of THP-1 cells and cause apoptosis remarkably, the suppression was both in time-and dose-dependentmanner. Marked morphological changes of cell apoptosis such as condensation of chromatin was clearly observed by Hoechst 33258 staining, and Annexin V/PI staining showed that apoptotic cells gradually increased after the cells treated with oridinon. Western blotting showed cleavage of the caspase-3 zymogen protein (32×103), with the appearance of its 20×103 subunit, and a cleaved 89×103 fragment of 116×103 PARP was also found. Conclusion Oridonin can inhibit cell growth and induce apoptosis in THP-1 cells via activation of caspase-3. The results indicated that oridonin might be an important potential anti-leukemia reagent.

Electroneurography and electromyography for assessing the difference in euroelectrophysiological characteristics between patients with amyotrophic lateral sclerosis and those with cervical spondylotic myelopathy / 中国组织工程研究

BACKGROUND: The early symptoms of amyotrophic lateral sclerosis (ASL) are usually located at a certain part of the body, and are similar to the clinical manifestations of cervical spondylotic myelopathy (CSM). However, their treatment and prognosis differ greatly. Therefore, multiple-part electromyography and electroneurography possess an important value of reference, particularly electromyography of thoracic paraspinal muscles can be used as an objective parameter for differentiation between ASL and CSM.OBJECTIVE: To investigate the electrophysiological changes in ASL and CSM.DESIGN: A retrospective clinical analysis.SETTING: Neurological Department of Second Hospital Affiliated to Jiangxi Medical College.PARTICIPANTS: Totally 30 inpatients and outpatients with ASL and 30 patients with CSM were selected from the Neurological Department of the Second Hospital Affiliated to Jiangxi Medical College between December 2001 and November 2004.METHODS: Totally 30 inpatients and outpatients with ASL as well as 30 inpatients and outpatients with CSM were subjected to routine electromyographic and electroneurographic examination. Routine electromyography examining three limb muscles + sternocleidomastoid + thoracic paraspinal muscles intended to observe the spontaneous potential at resting stage, time limit and wave-amplitude of motor unit potential, and recruit-ment phase during energetic contraction. Electroneurography was used to detect motsr conduction velocity and sensory conduction velocity,as well as the terminal latency and wave-amplitude of motor evoked potential.limb muscles, sternocleidomastoid and thoracic paraspinal muscles in paASL and SCM.RESULTS: Data of all the 60 patients entered the final statistical analysis.in patients with ALS and CSM, and were more severe in the former. The abnormality rate of spontaneous potential of thoracic paraspinal muscles reached 93.3% (28/30) as compared to 3.3% (1/30) in patients with CSM (P ＜ 0.001). The average time limit and abnormal increment of wave amplitude of motor unit potential were significantly different in patients with conduction velocity: The decrease rate of motor evoked potential amplitude of complex muscles was obviously higher in ASL than in CSM (75.6% and 86.7%, ~=7.25, P ＜ 0.01). So was the decrease rate of motor conduction sory nerve conduction velocity: It was not affected either in ASL or CSM.ALS and CSM, but the abnormality rate of spontaneous potential of thorography indicates that nerve conduction velocity was not affected in both playing decreased conduction velocity and wave amplitude than those with CSM.

Study and Exploration on the Integrated Factors Affecting the Modern University System / 中华医学教育探索杂志

This paper discusses that the focus of establishing the modern university system is to put into effect the university self-government,the academic freedom and the university administering by professor.Besides,setting up the modern university system also requires to built up the correct concept of talents,development,quality and mode,and to cultivate the university spirit and the university culture with feature.