Expression of interferon-λ1 in respiratory epithelial cells of children with RSV infection and its relationship with RSV load / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the expression of IFN-λ1 in respiratory epithelial cells of children with respiratory syncytial virus (RSV) infection and its relationship with RSV load.</p><p><b>METHODS</b>The nasopharyngeal swabs were collected from the children who were hospitalized with respiratory tract infection from June 2015 to June 2016. A direct immunofluorescence assay was used to detect the antigens of seven common respiratory viruses (including RSV) in the nasopharyngeal swabs. A total of 120 children who were only RSV positive were selected as the RSV infection group. A total of 50 children who had negative results in the detection of all viral antigens were selected as the healthy control group. Fluorescence quantitative real-time PCR was used to determine the RSV load and the expression of IFN-λ1 mRNA in the nasopharyngeal swabs of children in the two groups.</p><p><b>RESULTS</b>The expression of IFN-λ1 in the RSV infection group was significantly higher than that in the healthy control group (P<0.05). The expression of IFN-λ1 was positively correlated with RSV load (r=0.56, P<0.05).</p><p><b>CONCLUSIONS</b>RSV can induce the expression of IFN-λ1 in respiratory epithelial cells, suggesting that IFN-λ1 may play an important role in anti-RSV infection.</p>

Association of Dietary Pattern during Pregnancy and Gestational Diabetes Mellitus: A Prospective Cohort Study in Northern China / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To examine the association of maternal dietary patterns during pregnancy with gestational diabetes mellitus (GDM) in northern China.</p><p><b>METHODS</b>The dietary intakes of pregnant women were recorded twice by 24-hour dietary recalls for three days prior to having been diagnosed with GDM, at 5-15 and 24-28 gestational weeks, respectively. GDM was diagnosed, and serum glycosylated hemoglobin (HbA1c) was measured at 24-28 weeks. Dietary patterns were assessed by factor analysis. The association of the dietary pattern with GDM and HbA1c was examined by multiple logistic models.</p><p><b>RESULTS</b>Of 753 participants, 64 (8.5%) were diagnosed with GDM. Four dietary patterns were identified: Western pattern (dairy, baked/fried food and white meat), traditional pattern (light-colored vegetables, fine grain, red meat and tubers), mixed pattern (edible fungi, shrimp/shellfish and red meat) and prudent pattern (dark-colored vegetables and deep-sea fish). Compared with the prudent pattern, both the Western pattern and the traditional pattern were associated with an increased risk of GDM (aOR = 4.40, 95% CI: 1.58-12.22; aOR = 4.88, 95% CI: 1.79-13.32) and a high level of HbA1c (aOR = 12.37, 95% CI: 1.47-103.91; aOR = 26.23, 95% CI: 2.54-270.74). Compared to the lowest quartile (Q), Q3 of the Western pattern scores and Q3-Q4 of the traditional pattern scores were associated with a higher risk of GDM.</p><p><b>CONCLUSION</b>The consumption of the Western pattern or the traditional pattern during pregnancy may increase the risk of GDM.</p>

An improved method for generating integration-free human induced pluripotent stem cells / 中国实验血液学杂志

The genome instability and tumorigenicity of induced pluripotent stem cells (iPSC) hinder their great potentials for clinical application. Using episomal vectors to generate iPSC is the best way to solve safety issues at present. This method is simple and the exogenous gene was not integrated into the host genome. However, the reprogramming efficiency for this method is very low and thus limits its usage. This study was purposed to improve episomal method for generating induced pluripotent stem cells from cord blood mononuclear cells (CB MNC), to establish integration-free iPSC technology system, and to lay the foundation for individualized iPSC for future clinical uses. To improve the reprogramming efficiency for iPSC, episomal method was used at various combinations of episomal vectors, pre-stimulating culture mediums and oxygen condition were tested to optimize the method. The results showed that using erythroid culture medium for culturing 8 days, transfecting with episomal vectors with SFFV (spleen focus forming virus) promoter under the hypoxic condition (3%), CB MNC could be mostly efficiently reprogrammed with the efficiency 0.12%. Furthermore, the results showed that erythroblasts (CD36(+)CD71(+)CD235a(low)) were the cells that are reprogrammed with high efficiency after culture for 8 days. It is concluded that a highly efficient and safe method for generation of integration-free iPSC is successfully established, which is useable in clinical study.

Efficient reprogramming of human cord blood CD34(+) cells for formation of induced pluripotent stem cells with non-integrating plasmid system / 中国实验血液学杂志

This study was to establish the episomal vector reprogramming method to reprogram iPSC from human cord blood (CB) CD34(+) cells. The non-integrating plasmids of pEB-C5 and pEB-Tg were transfected into short-term cultured CB CD34(+) cells by using the nucleofector, so as to demonstrate efficient reprogramming of CB CD34(+) cells. Within 14 days of one-time transfection by two plasmids together, up to 200 iPSC-like colonies per 2 million transfected CB CD34(+) cells were generated. The results showed that the pluripotency of iPSC-derived CB CD34(+) cells was similar to that of hESC and the karyotypes of iPSC were normal. In addition, no vector integration was found in iPSC of 9th and 10th passages. Furthermore, hiPSC formed teratoma with three embryonic germ layers. It is concluded that the integration-free method to generate human iPSC from CB CD34(+) cells is reliable and can provide new ways for both research and future clinical applications.

Two-dimensional and color Doppler ultrasound analysis of vertebral artery in pilot cadets / 解放军医学杂志

Objective To investigate the development of vertebral artery in the 2010 enrolled pilot cadets, and provide a foundation for introducing vertebral artery ultrasound examination into inclusion criteria. Methods The ultrasound findings of the vertebral artery in 722 pilot cadets, including its origin, shape, diameter and hemodynamic patterns, were retrospectively reviewed by two-dimensional and color Doppler ultrasound. The proportion of its congenital dysplasia was calculated and summarized. Results Among the 722 pilot cadets, both the inner diameter of the initial segment (D1) and the intervertebral segment (D2) of left vertebral artery were wider than the right one (3.624±0.017mm vs 3.489±0.018mm, 3.623±0.018mm vs 3.438±0.019 mm, P0.05). Among 5 persons showed both abnormal origin and shape, there were 2 cases in whom there was also small caliber. Conclusions Multiple congenital dysplasia of vertebral artery was found in pilot cadets. The ultrasonography examination of vertebral artery should be included in the selection criteria for pilot cadet enrollment as early as possible.

Clinical and biopsy-based myopathological features of 5 cases with centronuclear myopathy / 中华儿科杂志

<p><b>OBJECTIVE</b>To analyze the clinical and pathological features of the centronuclear myopathy (CNM) in 5 Chinese patients and evaluate their diagnostic and differential diagnostic value.</p><p><b>METHODS</b>A standard series of histochemical and enzymohistochemical investigations were performed on all muscle specimens of CNM cases obtained via biopsy. The clinical manifestations and myopathological features of 5 CNM patients were retrospectively analyzed.</p><p><b>RESULTS</b>The age of onset ranged from 3 to 12 years. All patients primarily presented with limb girdle muscle weakness. In 3 patients extraocular muscles, facial muscles and cervical muscles were affected, respectively. The proximal muscles were affected more seriously than the distal and the lower limbs more seriously than the upper. Tendon reflex was reduced and no evident muscular atrophy was seen. The course of the disease ranged from 4 to 46 years and progressed slowly. The ability of walking could be maintained for many years and the fast movements such as running and jumping were impaired early. The serum creatine kinase (CK) level was normal or elevated slightly. Electromyography showed myopathic pattern in all cases. Two patients (mother and son) were from the same family and the son's two siblings had similar symptoms indicating autosomal dominant inherited pattern. There was mild variation in fiber size and most small fibers were round. Interstitial tissue increase slightly. Fibers with centrally placed nuclei accounted for 23% - 93%. Neither necrotic and regenerated fibers nor infiltration of inflammatory cells were seen. Type I fiber predominance and hypotrophy were present in all patients. Abnormal arrangement of the sarcoplasmic strands in appearance of "spokes of a wheel", increased oxidative enzyme activity around centronuclear and perinuclear halo were observed in 2 patients by NADH-TR staining.</p><p><b>CONCLUSIONS</b>For the patients who had the onset during the childhood and presented with slow progressive limb girdle muscle weakness, disability of fast movements and normal serum CK level, the possibility of benign congenital myopathy should be considered. High percentage of centronuclear fibers as well as type I fiber predominance and hypotrophy in muscle biopsy pathology may provide a morphological evidence for the definite diagnosis of CNM.</p>

Clinical,neuroimaging and myopathological features of MELAS:a retrospective analysis of 31 patients / 中华神经科杂志

Objective To investigate the clinical,neuroimaging and myopathological features of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes(MELAS).Methods The clinical manifestations,neuroimaging and myopathological features of 31 patients with MELAS diagnosed in our Neuromuscular Center in the recent 7 years were retrospectively analyzed.A3243G point mutations were analyzed by RFLP method in 10 patients.Results ①Clinical features:There were 18 male patients and 13 female patients.The age of onset ranged from 3 to 43 years,averaging 21.9 years.The averaged duration was 4.9 years.Thirteen patients in this group had family history of maternal inheritance pattern.The main clinical manifestations included short stature(26 patients),recurrent headache and vomiting(24 patients), muscle weakness(22 patients),epileptic seizure(21 patients),cognitive decline(19 patients),visual disturbance(17 patients),sensorineural deafness(16 patients),ataxia(6 patients),psychiatric symptom (8 patients),external ophathalmoplegia(2 patients)and diabetes mellitus(9 patients).The serum CK level was slightly elevated in 6 patients,and the fasting blood lactic acid was increased in 15 of the 18 detected patients.②Neuroimaging features:The stroke-like lesions were mostly confined to cerebral cortex, including temporal lobe(24 patients),occipital lobe(21 patients),parietal lobe(12 patients)and frontal lobe(4 patients).Three patients had deep white matter involvement.Migrating stroke-like lesions were confirmed in 4 patients by repeated cranial CT/MRI examination.In addition,cerebral atrophy(17 patients)and bilateral basilar ganglion calcification(11 patients)were found.③Myopathological features: Scattered ragged red fibers(RRF)in various number were found in all the patients by MGT staining.Other founding included strongly SDH-reactive blood vessel(27 patients),COX enzyme deficiency(19 patients), and mild to moderate lipid storage in RRF(20 patients).④MtDNA analysis showed 9 patients with A3243G point mutation in all the detected 13 patients.Conclusion The clinical and neuroimaging features may offer important clue to the diagnosis of MELAS,but a definite diagnosis of MELAS relies on the myopathology and mtDNA mutation analysis.

Genetic polymorphisms of short tandem repeat loci D3S1358, D13S317, D5S818 from Nongqu Mongolia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To understand the allele structure and genetic polymorphism at D3S1358, D13S317, D5S818 short tandem repeats (STRs) loci in Nongqu Mongolian of China, and to construct a preliminary database.</p><p><b>METHODS</b>The allele frequencies of the three STRs loci in 291 unrelated individuals from Nongqu Mongolian were analyzed by polymerase chain reaction and polyacrylamide gel electrophoresis.</p><p><b>RESULTS</b>Six, ten, and eight alleles were observed at D3S1358, D13S317, D5S818, respectively, and all 3 loci met Hardy-Weinberg equilibrium. The statistical analysis of 3 STR loci showed the heterozygosity >or=0.7332, the polymorphic information content >or=0.6884; the combined discrimination power and the probabilities of paternity exclusion were 0.9991 and 0.9806 respectively.</p><p><b>CONCLUSION</b>All three of the loci in this study were found to have high heterozygosity and polymorphic information content, so they could provide useful markers for genetic purposes. These results could serve as valuable data to enrich the Mongolian genetic database and play an important role in Chinese population genetic application.</p>

Gene detection of severe acute respiratory syndrome-related coronavirus / 中华病理学杂志

<p><b>OBJECTIVE</b>To develop a newly real-time RT-polymerase chain reaction assay for severe acute respiratory syndrome (SARS) related coronavirus in human whole blood.</p><p><b>METHODS</b>A pair of primers and a probe (molecular beacon) had been designed that were specific for the recognition of a highly conservative region between 15 301 and 15 480 of the SARS-related coronavirus polymerase gene sequences obtained from GenBank (G130027616).</p><p><b>RESULTS</b>In the real-time RT-PCR assay, the extent of SARS related coronavirus amplification was measured in terms of the increase in fluorescence during the amplification process. The 145 bp fragment of PCR product was further confirmed by conventional PCR assay and proved by DNA sequencing to be identical to the target sequence to which the probe was hybridized.</p><p><b>CONCLUSION</b>This assay has a broad application for clinical diagnosis and surveillance investigation.</p>

Therapeutic effects and long term follow-ups in 42 cases of lipid storage myopathy / 中华神经科杂志

Objective To clarify the clinical features,therapeutic strategy and prognosis of lipid storage myopathy (LSM).Methods The clinical data and therapeutic effects of 42 LSM patients were summarized retrospectively.All patients were followed up to evaluate their prognosis.Results Data of short-term therapeutic results of all the 42 patients were available.Thirty-three cases were placed in low- doses prednisone and 9 cases in riboflavin.All patients showed marked and quick improvement of symptoms within one month.Among thirty-two patients followed up for more than one year,26 cases had a full recovery and 6 remained to have intolerance to heavy exercise.Thirteen patients had relapses of muscle weakness in various degrees and most of which were induced by exertion,exposure to coldness and upper respiratory tract infection.In 5 patients the symptoms were recurred for more than one time.Among 13 cases with relapses, 7 had family history.Conclusions Our data suggest that LSM is a treatable disease and well responsive to low-doses prednisone.The disease tends to recur,especially in patients with family history.Glutaric aciduria type Ⅱ should be considered in LSM patients who are responsive well to riboflavin,indicating drug therapeutic strategy for LSM should be based on the etiology of the disease.