Copy number variations in the human genome,one of the causes of complex diseases and genetic diseases,can lead to genomic disorders.As these diseases are difficult to diagnose,it is significantly meaningful to conduct genetic researches and molecular diagnosis.Chromosomal microarray can be used to detect copy number variations on a genome-wide scale.With the advantage of high throughput and resolution,chromosomal microarray is perceived as an important means of identifying copy number variations in genomic disorders.As technology advancements of chromosomal microarray and accumulations of clinical experiences,chromosomal microarray has played a significant role in etiological diagnosis of multiple malformations,mental retardation and autism.

AIM and METHODS: To observe the effects of glucose-free and Mg 2+ -free in the extracellular fluid on the changes of [Ca 2+ ] i in the cerebro-cortical neurons damaged by 1 mmol/L glutamate using laser confocal scanning microscope. RESULTS: Both frequency and amplitude of neuronal calcium oscillation induced by glutamate were lowered in glucose-free and Mg 2+ -free buffers. The basic [Ca 2+ ] i concentration was lowered in the former case , but it was elevated in the latter case. CONCLUSION: Mg 2+ -free aggravates [Ca 2+ ] i overload induced by 1 mmol/L glutamate ,under certain conditions the glucose-free might resist damage role of glutamate and Mg 2+ -free.

AIM: The purpose of the present study was to detect intracellular Ca 2+ changes in living brain slices during focal cerebral ischemia/reperfusion (I/R) and reveal the role of intracellular Ca 2+ in the cerebral I/R injury. METHODS: The model of focal cerebral I/R was established in rats by reversible inserting a nylon thread, and dynamic change of intracellular Ca 2+ in brain slices was determined using laser confocal imaging system. RESULTS: ① Ca 2+ gradually enhanced with increase in ischemic time in cortex and striatum. ②At 1 h ischemia/ 10 min reperfusion, Ca 2+ increased significantly in striatum, but Ca 2+ decreased at 3 h reperfusion compared with 10 min reperfusion. ③ Ca 2+ markedly enhanced at 6 h ischemia compared with 1 h ischemia, and after 3 h reperfusion Ca 2+ decreased, but was still higher than that in sham-operation group. ④The striatum is more sensitive than cortex to ischemia/reperfusion. CONCLUSION: Ca 2+ overload in the area of cortex and striatum may play an important role in cerebral ischemia/reperfusion injury in rats.

Objective To investigate the changes of serum trace elements and nutritional proteins in children with acute lymphoblastic leukemia and acute myeloid leukemia at the stage of onset. Methods Serum levels of cuprum, zinc, iron, magnesium, phosphorus, calcium, ceruloplasmin, ferritin, transferrin, lactate dehydrogenase, total protein, albumin, hemoglobin, and erythrocytes were detected in 73 patients with acute lymphoblastic leukemia, 26 patients with acute myeloid leukemia at stages of onset, and 30 healthy controls using methods including atomic absorption spectrometry, nophelometry assay, dry chemical method, and/or chemiluminescence method. The differences of these indicators among these three groups were analyzed by t test. Results Serum levels of all detected elements except for zinc and phosphorus were significantly different between the onset groups and the control group (P ＜ 0.05 ). Serum levels of cuprum, magnesium, iron, ferritin, ceruloplasmin, and lactate dehydrogenase in the onset groups were significantly higher than those in control group ( all P ＜ 0.05 ). On the contrary, calcium, transferrin, total protein, albumin, hemoglobin, and erythrocyte count were significantly lower in the onset groups than those in control group (P ＜ 0.05). Serum iron, cuprum, zinc, and their metabolism were significantly different between acute lymphoblastic leukemia group and acute myeloid leukemia group ( P ＜ 0.05 ).Conclusion　Serum levels of some trace elements and nutritional proteins are disordered and out of balance in chil dren with acute lymphoblastic leukemia and acute myeloid leukemia at stages of onset.

Objective To study the effect of mild hypothermia on MBP level in the CSF of TBI patients.Methods We investigated 36 patients with severe traumatic brain injury and randomized them into two groups,mild hypothermia treatment group and normathermia treatment group.The MBP levels in CSF and ICP and GOS scores in different time-points were evaluated.Results There was no significant difference between the two groups in the MBP level on the 1st day after treatment(P ＞ 0.05).The MBP levels in mild hypothermia group decreased greater than that in the control group on the 7th and 14th day after treatment(P ＜ 0.05).ICP decreased more in mild hypothermia group than in the control group(P ＜ 0.05)on the 7th and 14th day after treatment.Moreover,patients in mild hypothermia treatment group have better outcome than those in the control group(P ＜ 0.05),but there was no significant difference in the death rate between the two groups.Conclusion Mild hypothermia may provide neuroprotection by reducing MBP degradation and stabilizing medullary sheath,thus improving the prognosis of TBI patients.

Objective To study the effect of mild hypothermia on β2- microglobulin (MG) level in cerebrospinam(CSF) of traumatic brain injury (TBI) patients.Methods Thirty-six severe TBI patients were divided into two groups randomly,mild hypothermia treatment group and normathermia treatment group,and the β2- MG level and GOS score in CSF of these patients in different time- point were evaluated.Results β2-MG level increased at first,then decreased gradually,and MBP level in mild hypothermia group decreased greater than the control group( P ＜ 0.05 ),moreover,patients in mild hypothermia treatment group had better outcome than the control group( P ＜ 0.05).Conclusion Mild hypothermia may act as neuroprotection by inhibiting inflammatory response or improving immune regulation.

Objective: To investigate the effect of intracellular free Ca 2+ concentration ([Ca 2+ ] i ) on injury following transient Mg 2+ free treatment in vitro in developing cortical neurons. Methods: Embryo cortical neurons of rats cultured for 6 d and 17 d were directly exposed to Mg 2+ free media, or pretreated with NMDA receptor antagonists or calcium channel antagonist before being exposed to Mg 2+ free media. MTT assay was used to study the injury of neurons. [Ca 2+ ] i were measured using fluo 3, a fluorescent calcium sensitive dye and laser scanning confocal microscope, and calculated by the fluorescent intensity. Results:Compared with control, MTT conversion rates decreased after transient (3 h) Mg 2+ free treatment in neurons cultured for 6 d and 17 d in vitro, (59.1?6.87)% and (51.2?5.90)%, respectively. In neurons pre and co treated with 10 ?mol?L -1 MK 801, 50 ?mol?L -1 AP 5 and 10 ?mol?L -1 nifedipine, MTT conversion rates were higher than those of neurons with only Mg 2+ free treatment. Peak values of [Ca 2+ ] i in neurons cultured for 6 d and 17 d were 2.4?0.23 and 3.2?0.32, respectively Peak value of neurons 17 d in vitro was significantly higher than that of neurons 6 d in vitro (P

Objective To analyze iodine nutrition and its correlation with thyroid function in pregnant women.Methods A total of 295 pregnant women were enrolled from Jun.to Oct.2016,and detected for serum levels of thyroid stimulating hormone(TSH),free thyroxine(FT4) and thyroid-peroxidase antibody(TPOAb) by using electrochemiluminescence analysis,and for urinary iodine concentration(UIC) by cold digestion method according to iodine catalytic effect of arsenic-cerium.Results The median of UIC was 174.90 μg/L.The prevalence of iodine deficiency and iodine excess were 40.00% and 7.12% respectively.The prevalence of TPOAb positivity and thyroid dysfunction in the iodine deficiency group and iodine excess group were significantly higher than those of iodine proper group(P<0.05).The levels of TSH and FT4 of iodine excess group were significantly higher than those of iodine proper group(P<0.05).Conclusion The abnormality of iodine nutrition could be common in pregnant women.Monitoring of UIC and thyroid hormones should be highlighted.

Objective: To design the proficiency testing (PT) project (No. NIFDC-PT-183) for assays of bismuth potassium citrate capsules and organize to assess the proficiency of complexometric titration in laboratories, and provide some technical analyses and advices.
Methods: Two groups of samples with different concentration were prepared. The uniformity was evaluated with one-way analysis of variance and the stability was confirmed with t-test, whose results all conformed the requirements. The samples with three combinations were randomly distributed to 279 laboratories. The determination was performed according to the assays of bismuth potassium citrate capsules in Volume Ⅱ of the Chinese Pharmacopoeia 2015. The median value and normalized interquartile range (NIQR) of robust statistical analysis was adopted and Z-scores were used to evaluate the results from each of laboratories.
Results: Among 279 laboratories, 240 laboratories results were satisfactory, 23 were questionable, and the other 16 were unsatisfied. The satisfaction rate was 86.0%.
Conclusion: The overall capacity of national laboratories for assays of bismuth potassium citrate capsules is good while a portion of participants require further improvement.

10.3969/j.issn.1000-3606.2013.06.019