The impact of human umbilical cord-derived mesenchymal stem cells on the pancreatic function of type 2 diabetic mice and their regulatory role on NLRP3 inflammasomes / 中华内科杂志

Objective:To investigate the effect and regulation of umbilical cord-derived mesenchymal stem cells (UC-MSCs) on islets function and NOD-like receptor family, pyrin domain containing 3 (NLRP3) and autophagy in type 2 diabetic mellitus (T2DM) mice.Methods:Experimental study. Twenty, 8-week-old, male C57BL/6J mice were selected and divided into a normal control group ( n=5) and a high-fat feeding modeling group ( n=15). The model of T2DM was established by high-fat feeding combined with intraperitoneal injection of low-dose streptozotocin. After successful modeling, those mice were divided into a diabetes group ( n=7) and a UC-MSCs treatment group ( n=7). The UC-MSCs treatment group was given UC-MSCs (1×10 6/0.2 ml phosphate buffer solution) by tail vein infusion once a week for a total of 4 weeks; the diabetes group was injected with the same amount of normal saline, and the normal control group was not treated. One week after the treatment, mice underwent intraperitoneal glucose tolerance tests and intraperitoneal insulin tolerance tests, and then the mice were sacrificed to obtain pancreatic tissue to detect the expressions of interleukin-1β (IL-1β) and pancreatic and duodenal homeobox 1 (PDX-1) by immunofluorescence. The bone marrow-derived macrophages were stimulated with lipopolysaccharide and adenosine triphosphate (experimental group) in vitro, then co-cultured with UC-MSCs for 24 h (treatment group). After the culture, enzyme-linked immunosorbent assay was used to detect the secretion level of IL-1β in the supernatant, and immunofluorescence staining was used to detect the expression of NLRP3 inflammasome, and related autophagy proteins. Statistical analysis was performed using unpaired one-way analysis of variance, repeated measure analysis of variance. Results:In vivo experiments showed that compared with the diabetes group, the UC-MSCs treatment group partially repaired islet structure, improved glucose tolerance and insulin sensitivity (all P<0.05), and the expression of PDX-1 increased and IL-1β decreased in islets under confocal microscopy. In vitro experiments showed that compared with the experimental group, the level of IL-1β secreted by macrophages in the treatment group was decreased [(85.9±74.6) pg/ml vs. (883.4±446.2) pg/ml, P=0.001], the expression of NLRP3 inflammasome and autophagy-related protein P62 was decreased, and the expressions of microtubule-associated protein 1 light chain 3β (LC3) and autophagy effector Beclin-1 were increased under confocal microscopy. Conclusions:UC-MSCs can reduce the level of pancreatic inflammation in T2DM mice, preserving pancreatic function. This might be associated with the ability of UC-MSCs to inhibit the activity of NLRP3 inflammasomes in macrophages and enhance autophagy levels.

Single chain antibody fragment display systems: a review / 生物工程学报

Single chain antibody fragment (scFv) is a small molecule composed of a variable region of heavy chain (VH) and a variable region of light chain (VL) of an antibody, and these two chains are connected by a flexible short peptide. scFv is the smallest functional fragment with complete antigen-binding activity, which contains both the antibody-recognizing site and the antigen-binding site. Compared with other antibodies, scFv has the advantages of small molecular weight, strong penetration, low immunogenicity, and easy expression. Currently, the most commonly used display systems for scFv mainly include the phage display system, ribosome display system, mRNA display system, yeast cell surface display system and mammalian cell display system. In recent years, with the development of scFv in the field of medicine, biology, and food safety, they have also attracted much attention in the sectors of biosynthesis and applied research. This review summarizes the advances of scFv display systems in recent years in order to facilitate scFv screening and application.

Study on the correlation between color and inner quality during the processing of Prunus mume carbon and its processing end point / 中国药房

OBJECTIVE To study the correlation between color and inner quality during the processing of Prunus mume carbon， and provide reference for the determination of processing end point of P. mume carbon. METHODS The chromaticity value of P. mume carbon powder was measured by colorimeter， and the inner quality of P. mume carbon was measured by selecting the contents of water， water-soluble extract， citric acid and tannin. The dynamic change trend of the chromaticity value， water， water- soluble extract， the contents of citric acid and tannin in P. mume carbon under different processing time was analyzed. The correlation between color and the above indexe contents was analyzed， and the regression equation of inner quality-chromaticity value was established. Combined with principal component analysis （PCA）， hierarchical cluster analysis （CA） and partial least squares discriminant analysis （PLS-DA）， the difference of P. mume carbon at different processing times was analyzed to determine the processing end point. RESULTS With the extension of processing time， the sample color gradually deepened； the chromaticity values L* and E* of the samples increased at first and then decreased， the chromaticity values a* and b* decreased， and finally all tended to be stable. The content of water-soluble extract， citric acid and tannin in the sample increased at first and then decreased， the water content of the sample decreased with time and finally stabilized. Correlation analysis showed that water， water-soluble extract， citric acid and tannin were positively correlated with L*， a*， b* and E*（P＜0.001）. PCA and HCA showed that P. mume carbon under different processing time could be clustered into two categories： the processed samples of 0-30 min and those of 40-60 min. PLS-DA showed that water and water-soluble extract were important quality indexes and b* was an important chrominance index in the processing of P. mume carbon. The chromaticity value of the samples processed for 50 min and 60 min were not significantly different. The contents of water， water- soluble extract， citric acid and tannin in the samples processed for 60 min were less than those processed for 50 min. CONCLUSIONS There is a certain correlation between the color and the inner quality of P. mume carbon. The processing time of P. mume carbon should be 40-50 min.

Regression of Left Ventricular Hypertrophy in Patients Combined with Peritoneal Dialysis and Hemodialysis.

Methods: This retrospective study enrolled 58 patients at The Second Affiliated Hospital of Soochow University who switched from PD to PHD. Clinical data and echocardiographic examination results were collected. Data from the two groups with a normal distribution were compared with the paired t-test. A pvalue <0.05 (two-tailed) was considered statistically significant. Results: A total of 58 subjects were enrolled, including 46 males and 12 females, with a median age of 50.2 ± 11.1 (47-68) years. The mean duration of peritoneal dialysis was 67.2 ± 33.6 months. Before and after PHD, the ultrafiltration volume (p = 0.021) and hemoglobin (p = 0.001) were increased, while SBP (p = 0.002), DBP (p = 0.002), phosphorus (p < 0.001), and ESA dosage (p < 0.001) were decreased. Before and after combined dialysis (PHD), the incidence of LVH was 76.4% and 61.8%, respectively (p = 0.013), and LVMI decreased from 173.8 ± 86.2 g/m2 to 160.6 ± 78.5 g/m2 (p < 0.001). Conclusion: Compared with PD alone, the combination of PD and HD resulted in regression of LVH and reduced LVMI.

Investigation on status quo and subtypes of postoperative delirium in children with congenital heart disease / 中国实用护理杂志

Objective:To describe the status quo and subtypes of postoperative delirium (POD) in children with congenital heart disease in China.Methods:A total of 216 children with congenital heart disease who underwent surgery in Fuwai Hospital, Chinese Academy of Medical Sciences from December 2020 to June 2021 were prospectively observed. The status quo and subtypes of POD in children with congenital heart disease was evaluated according to the results of the Cornell assessment of pediatric delirium (CAPD).Results:POD occurred in 114 children (52.78%) during the study period. The onset time of POD was most on the first postoperative day (50.88%). POD lasted only 1 day in 54.39% of the children who developed it. The incidence of POD subtypes (hyperactive delirium, hypoactive delirium, mixed delirium) were 35.09%, 29.82% and 35.09%, respectively, and there was no significant difference in the incidence distribution among them ( χ2=0.63, P>0.05). The onset time of mixed delirium was significantly later than that of hyperactive delirium ( χ2=7.07, P<0.05), and the duration of mixed delirium was significantly longer than that of hypoactive delirium ( χ2=16.81, P<0.001). The results showed that if the child had blood transfusion during operation or the operation was difficult, the probability of reduced activity delirium after operation was higher ( P<0.016 7). Children wieth moderate to severe postoperative pain or short duration of muscle relaxant use during the evaluation period were more likely to have a hyperactive postoperative delirium.( P<0.016 7). The time of tracheal intubation, the time of hospitalization after operation and the the postoperative time in PICU were the longest in the children with mixed type of postoperative delirium ( P<0.016 7). Conclusions:POD has a high incidence in children with congenital heart disease, and it is more likely to occur in the early postoperative stage. Therefore, early postoperative identification and intervention of POD is of great significance for children with congenital heart disease. Children with different characteristics are prone to different types of POD, which should be paid attention to.

Comparison of Corneal Biomechanical Properties Based on Data from Uniaxial Tensile Test under Fast and Slow Loading / 医用生物力学

Objective To compare the corneal biomechanical parameters identified from uniaxial tensile test under fast and slow loading. Methods The stress-strain and stress relaxation data were obtained from uniaxial tensile tests on corneal strips from 15 healthy adult rabbits at average loading rate of 0.16 mm/s and 0.02 mm/s, respectively. A visco-hyperelastic model was applied to analyze the loading and unloading data from the fast tensile tests, where the model parameter set was denoted by Gvh. The first-order Ogden model and second-order Prony series model were used to fit stress-strain and stress relaxation data from the slow tensile tests, respectively, in which the model parameter set was denoted by Gvh. Correlation analysis was used to compare the correlation of parameters between Gvh and GOP. Results All the goodness-of-fits to the three data sets were greater than 0.95. There were significant differences in 5 (μ, A1, A2, τ1, τ2,) of the 6 parameters between Gvh and GOP (P<0.05), and the Ogden model parameters was positively correlated between the two groups. Conclusions There are differences in corneal biomechanical parameters identified by data from uniaxial tensile tests under fast and slow loading. The results provide a preliminary research basis for further exploring the use of clinical data to identify corneal biomechanical properties.

Whole body vibration can improve the muscle strength, balance and walking ability of elderly persons with sarcopenia / 中华物理医学与康复杂志

Objective:To observe any effect of alternate side whole body vibration on the muscle strength, balance and walking ability of persons with sarcopenia.Methods:Forty elderly persons with sarcopenia were randomly divided into an experimental group and a control group, each of 20. Both groups received conventional balance and lower-limb muscle strength training, but the experimental group also received 9-14Hz whole body vibration treatment with an amplitude of 2-3mm, 5 one-minute groups a day, 5 times a week. Before and after 8 weeks of treatment, both groups′ lower limb strength, 6m step speed, exercise ellipse area, exercise track length, and Up and Go test (TUGT) time were measured.Results:In the experimental group the average bilateral iliopsoas muscle strength and all the other measurements had improved significantly. In the control group, the exercise ellipse area with the eyes closed and the exercise track length with the eyes open and all the other measurements had improved significantly compared with before the training. But all of the experimental group′s outcomes were, on average, significantly better than those of the control group.Conclusion:Low frequency vibration training can better improve the muscle strength, balance and walking ability of elderly persons with sarcopenia. It can be used for prevention as well as treatment.

Clinical pharmacist participation in the treatment of a pregnancy complicated with Clostridium difficile infection / 药学实践杂志

Objective To explore the clinical pharmacist participation in the treatment of pregnancy complicated with Clostridium difficile infection. Methods From the perspective of medications, clinical pharmacists followed evidence-based medical practice, combined pharmaceutical theory with clinical evidence and provided individualized pharmacy care in drug selection, dose adjustment, medication regime and liver protection treatment. Results Clinical pharmacists integrated into the treatment team to ensure the effectiveness and safety of medication in the patient with pregnancy. Conclusion The individualized pharmacy care improved the effectiveness of drug treatment.

Participation of Clinical Pharmacists in the Management of Drug Therapy for Fetal Tachycardia Treated by Oral Administration of Digoxin through Mother / 中国药房

OBJECTIVE：To investigate the ro le of clinical pharmacists in the therapy of fetal tachycardia by oral administration of digoxin through mother. METHODS ：The clinical pharmacists participated in the whole process of drug therapy for a pregnant woman with fetal tachycardia. According to 31+6 weeks of gestation ，the fetal heart rate of 230 beats/min at admission，clinical pharmacists provided the suggestion for the doctor about the safety and blood concentration determination of digoxin in the treatment of fetal tachycardia by mother. The patient ’s blood potassium value was lower than the normal range ，and it was suggested that potassium should be supplemented before digoxin was used ，and the initial dose of digoxin was 0.5 mg per 12 h. On the 7th day in the hospital ，the dosage of digoxin should be adjusted to maintaining dose （0.25 mg per 12 h）；on the 11th day in the hospital ，the patient ’s blood sodium value was low ，and the clinical pharmacists gave diet guidance. At the same time ， the clinical pharmacists explained the adverse reactions of digoxin to the doctors ，nurses and patients ，and closely observed and educated the patients. RESULTS ：Doctors adopted the suggestions of the clinical pharmacists. The fetal heart rate decreased to 180 beats/min from hospital after 13 days of treatment. The maternal digoxin concentration remained stable. No adverse drug reactions occurred in the mother and infant. CONCLUSIONS ：Maternal and child safety should be taken into account in the medication of pregnant patients. The clinical pharmacists assisting doctors to formulate medication strategying ，and carrying out pharmaceutical care for patients ，can ensure the effectiveness and safety of medication for fetal tachycardia.

Application of high-resolution melting analysis of segmental duplication in the prenatal diagnosis of common trisomies / 中华检验医学杂志

Methods:A total of 1 152 amniotic fluid samples were collected from pregnant women who underwent prenatal diagnosis in the Nanjing Maternity and Child Health Care Hospital, Women′s Hospital School of Medicine Zhejiang University, West China Second University Hospital, Sichuan University/West China Women′s and Children′s Hospital, and Xiamen Maternal and Child Health Hospital from September 2014 to August 2016. These samples were examined with SD-HRM and karyotyping simultaneously. Clinical sensitivity and specificity of SD-HRM were calculated, and Kappa values were measured to evaluate the consistency of detection results of the two methods.Results:A total of 161 cases of trisomy 21, 60 cases of trisomy 18, and 5 cases of trisomy 13 were detected by SD-HRM in 1 152 prenatal samples, sensitivity and specificity were both up to 100%, and Kappa values is equal to 1 which were consistent with the results of karyotype analysis.Conclusion:SD-HRM is validated to be highly accurate for the prenatal diagnosis of common trisomies, which is promising in the clinical practice.

Epidemic status of brucellosis and MLVA genotyping characteristics of Brucella isolated from Hebei Province in 2016 / 中华地方病学杂志

Objective To analyze the brucellosis epidemic and genotyping characteristics of Brucella strains isolated from Hebei Province,and to provide scientific basis for brucellosis control and prevention.Methods Descriptive epidemiological analysis (including region,population,and time distribution characteristics) was performed using individual data of human brucellosis in Hebei Province from the National Notifiable Infectious Disease Reporting Information System of China Information System for Disease Control and Prevention in 2016,Brucella strains were isolated by phase culture bottles in Brucellosis Lab from Hebei Provincial Center for Disease Control and Prevention.Multiple-locus variable-number tandem-repeat analysis (MLVA) was used to identify the genotyping characteristics of the isolates.Results There were 3 774 reported cases in 2016,and 11 cities in the province had reported the cases.The cases were found mainly in Zhangjiakou,Chengde and Tangshan.And 95.98％ (167/174) of all counties were reported brucellosis cases.Vocational high risk population was farmers and herdsmen engaged in livestock and processing of animal products,accounting for 90.22％ (3 405/3 774).Male had the highest incidence,accounting for 74.38％ (2 807/3 774).The onset time was concentrated in January-August,accounting for 83.67％ (3 161/3 774).Twenty-one strains of Brucella were isolated,twenty isolates were Brucella melitensis biovar 3,and one isolate was Brucella abortus biovar 3.Panel 1 (MLVA-8) identified three genotypes 42,43,and 114,with genotype 42 representing 85.00％ (17/20);Panel 1 + Panel 2A (MLVA-11) identified three genotypes 116,122,291,with genotype 116 representing 85.00％ (17/20),which were identified as belonging to the East Mediterranean group.Panel 1 (MLVA-8) identified the genotype 36,Panel 1 + Panel 2A (MLVA-11) identified the genotype 72 of one Brucella abortus strain.It was identified as belonging to abortus C.Conclusions The brucellosis epidemic in Hebei is relatively severe,the pathogenic bacteria is mainly Brucella melitensis.The MLVA assay is a very practical and important molecular genotyping tool,it provides a basis for tracing the source of brucellosis infection.

Research on entity relation extraction of Chinese adverse drug reaction reports based on deep learning method / 中国药科大学学报

@#Adverse drug reaction(ADR)reports are acting as primary sources for post-marketing drug safety evaluation, which have important reference value for drug safety evaluation. In this article, bidirectional gated recurrent unit, a kind of deep learning method, was applied as the model for relation extraction of drugs and adverse reactions in free-text section of ADR descriptions in Chinese ADR reports, with attention as well as character embedding and word segmentation embedding added into the network. The experimental results showed that our model achieved good performance in the classification task of confirming the relationship of “Drug-ADR” pair(denial, likely, direct and post-therapy)in the ADR description, and the final model achieved an F-value of 87. 52%. The extracted information can assist in evaluating ADR reports and at the same time be utilized in tasks like statistical analysis of certain drugs and adverse events and ADR knowledge base construction to provide more research techniques for drug safety researches.

Analysis of DYSF gene mutations in two pedigrees affected with limb-girdle muscular dystrophy type 2B / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze mutations of DYSF gene in two pedigrees affected with limb-girdle muscular dystrophy 2B (LGMD-2B).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples of the two probands and unaffected family members. Variant sites were screened by next-generation sequencing using gene panel as well as Sanger sequencing.</p><p><b>RESULTS</b>Four pathogenic mutations of the DYSF gene were detected, which included a de novo mutation and three mutations with uncertain significance. In pedigree 1, the proband carried compound heterozygous mutations of c.1667T to C (p.Leu556Pro) and c.5567T to A (p.Val1856Glu), which were respectively inherited from her mother and father. Proband of pedigree 2 carried compound heterozygous mutations of c.4853A to G (p.Tyr1618Cys) and c.4876G to A (p.Val1612Ile), among which c.4876G to A (p.Val1626Ile) was also found in his father and grandfather, while c.4853A to G (p.Tyr1618Cys) was detected in his mother and grandmother.</p><p><b>CONCLUSION</b>The two compound heterozygous mutations of the DYSF gene probably underlie the LGMD2B in the two pedigrees. Next generation sequencing has conferred great advantage for gene diagnosis of hereditary myopathy.</p>

Genetic analysis and prenatal diagnosis for patients with non-syndromic hearing impairment / 天津医药

Objective To explore the genetic pathogen of patients with non-syndromic hearing impairment and to provide prenatal diagnosis for the families of hereditary deafness. Methods Mutation screening of GJB2, SLC26A4, GJB3 and mitochondrial 12 S rRNA genes was performed in 208 patients with non-syndromic hearing impairment by gene chip. Then direct sequencing was used in 41 patients who were found one mutation of GJB2 or SLC26A4 gene. And prenatal diagnosis was carried out in two families by direct sequencing. Results Eighty-six patients (41.35％) were found at least one mutation by gene chip. Among them, 40 patients were found to carry two mutations and 46 patients were found to carry one mutation. The most frequent mutation was 235delC, which was found in 46 patients. And 12 cases were found the second mutation through direct sequencing. A total of 52 (25.00％) patients were detected two mutations. Prenatal diagnosis showed that one fetus carried compound mutations of 299-300delAT and 235delC, and another one carried heterozygous mutation of IVS7-2A>G. Conclusion Patients with non-syndromic hearing impairment can be accurately diagnosed by gene chip and Sanger sequencing. The prenatal diagnosis is primary means for high-risk fetuses.

Three cases of canine leptospirosis / 中国人兽共患病学报

In order to explore the pathogenic characters,diagnosis and treatment of canine leptospirosis,a retrospective analysis of the pathogenetic factor,diagnosis and treatment of three dogs were reported which diagnosed as canine leptospirosis in China Agricultural University Teaching Animal Hospital from August to November,2015.The infected dogs showed symptoms of depressed,jaundice,anorexia and vomiting.Two of them had fever history and contacted the water resource outside before getting ill.All three dogs were confirmed anemia,liver and kidney damage by laboratory examination.They were diagnosed with canine leptospirosis according to the positive results of the Leptospira PCR examination base on urine.During the diagnosis and treatment process,one of them was dead,the rest two recovered after antibiotic and symptomatic therapy.In conclusion,dogs which infected with leptospirosis may have a contact with the infected water before.The Leptospira PCR examination base on urine can be used for the diagnosis method of the disease.As to treatment,the use of penicillin and tetracycline drugs such as doxycycline is recommended.

Cohort Study of Therapeutic Drug Monitoring on Meropenem in Intensive Care Unit Patients / 医药导报

Objective To evaluate whether individualized dosage regimen based on therapeutic drug monitoring (TDM) is beneficial for improving the rate of pharmacokinetics/pharmacodynamics (PK/PD) reaching the standard and anti-infection efficacy. Methods Totally, 36 cases in the intensive care unit ( ICU ) of Nanjing Drum Tower Hospital using meropenem during January 2015 to December 2015 were collected, and divided into intervention group and control group. Results On the fourth day of administration, meropenem concentration in intervention group was significantly higher than that of the control group (22.5 μgmL-1 and 17.5 μgmL-1, respectively, P=0.007).With minimal inhibitory concentration (Cmin)>8 μgmL-1 serving as target, the rate of reaching the standard was both 22. 2% on day 2, 100. 0% and 72. 2% on day 4 in intervention group and control group, respectively (P=0.015). With minimal inhibitory concentration (Cmin) >32 μgmL-1 serving as target, the rate of reaching the standard was both 0 on day 2, 38. 9% and 5. 5% on day 4 in intervention group and control group, respectively (P=0.015). The clinical curative rate of the intervention group and control group was 83.3% and 72.2%, respectively (P=0.437), and the failure rate was 16.7% and 27.8%, respectively.Bacteria clearance rate was 88.9%and 55.5% in the intervention group and control group, respectively(P<0.05). Conclusion Individualized dosage regimen based on TDM in ICU patients is beneficial to improving the rate of PK/PD reaching the standard and anti-infection efficacy.

Cohort Study of Therapeutic Drug Monitoring on Meropenem in Intensive Care Unit Patients / 医药导报

Objective To evaluate whether individualized dosage regimen based on therapeutic drug monitoring (TDM) is beneficial for improving the rate of pharmacokinetics/pharmacodynamics (PK/PD) reaching the standard and anti-infection efficacy. Methods Totally, 36 cases in the intensive care unit ( ICU ) of Nanjing Drum Tower Hospital using meropenem during January 2015 to December 2015 were collected, and divided into intervention group and control group. Results On the fourth day of administration, meropenem concentration in intervention group was significantly higher than that of the control group (22.5 μgmL-1 and 17.5 μgmL-1, respectively, P=0.007).With minimal inhibitory concentration (Cmin)>8 μgmL-1 serving as target, the rate of reaching the standard was both 22. 2% on day 2, 100. 0% and 72. 2% on day 4 in intervention group and control group, respectively (P=0.015). With minimal inhibitory concentration (Cmin) >32 μgmL-1 serving as target, the rate of reaching the standard was both 0 on day 2, 38. 9% and 5. 5% on day 4 in intervention group and control group, respectively (P=0.015). The clinical curative rate of the intervention group and control group was 83.3% and 72.2%, respectively (P=0.437), and the failure rate was 16.7% and 27.8%, respectively.Bacteria clearance rate was 88.9%and 55.5% in the intervention group and control group, respectively(P<0.05). Conclusion Individualized dosage regimen based on TDM in ICU patients is beneficial to improving the rate of PK/PD reaching the standard and anti-infection efficacy.

Clinical pharmacists involvement in consultation：analysis and experience of 141 cases of infectious disease / 药学实践杂志

Objective To investigate how the clinical pharmacists participate in the regime design and adjustment in the treatment of infectious disease and to show how clinical pharmacists to team with physicians for patient′s infection control by contributing their special knowledge .Method From August 2012 to April 2014 ,141 patients were consulted by the clinical pharmacists for the infectious diseases .The patient′s basic information ,ward distribution ,consultation purpose ,etiology of infections and adoption of the suggestions were analyzed .Results Among 141 consulted cases ,most patients belonged to the urology ,hepatobiliary surgery and neurosurgery department (accounted for 26 .95% ,21 .99% and 17 .73% respectively) .The top three consultation subjects are the use of ‘special use class’ antimicrobials ,regime adjustment and medication choice (ac-counted for 85 .82% ,74 .62% and 59 .57% ) .133 suggestions from clinical pharmacists were accepted ,1 was partially adopted and 7 were rejected (accounted for 94 .33% ,0 .71% and 4 .96% ) .Conclusion The clinical pharmacists play important roles in the treatment of infectious disease by providing the consultations to clinicians .With their special knowledge ,clinical pharma-cists can make a good contribution to ensure the safe and effective drug therapies .

Application of chromosomal microarray analysis for the diagnosis of children with intellectual disability/developmental delay and a normal karytype / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype.</p><p><b>METHODS</b>Peripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software.</p><p><b>RESULTS</b>Eighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes. These included 2 Williams-Beuren syndromes, 2 Angelman syndromes, 2 Russell-Silver syndromes, 1 Smith-Magenis syndromes, 1 Wolf-Hirschhorn syndromes, 1 15q26 overgrowth syndrome and 1 Xq28 (MECP2) duplication syndrome. In addition, 8 cases were diagnosed with pathogenic copy number variations (pCNV).</p><p><b>CONCLUSION</b>CMA can significantly improve the diagnostic rate for patients with ID/DD, which is of great value for the treatment of such children and guidance of reproduction for their parents. Therefore, CMA should become the first-line diagnostic test for patients with ID/DD.</p>

Application of chromosomal microarray analysis in prenatal diagnosis for fetal abnormalities detected by ultrasonography / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the outcome of chromosomal microarray analysis (CMA) in prenatal diagnosis for fetal abnormalities detected by ultrasonography.</p><p><b>METHODS</b>Amniotic fluid samples from 477 pregnancies with abnormal ultrasound findings but without common aneuploidies were detected by CMA with Affymetrix CytoScan 750K arrays. The results were analyzed with ChAS v3.0 software.</p><p><b>RESULTS</b>Among the 477 samples, 24 (5.03%) were detected with pathogenic copy number variations (pCNVs) by CMA. Six (9.68%) among 62 cases with structural fetal abnormalities in multiple organ systems were detected with pCNVs, 11 (7.48%) among 147 cases with a single structural anomaly were detected with pCNVs, and 7 (2.61%) among 268 cases with a soft marker were detected with pCNVs.</p><p><b>CONCLUSION</b>CMA has offered a clear advantage over conventional karyotyping for the detection of fetal chromosomal abnormalities, and can provide an effective diagnostic tool for those with one or more structural abnormalities detected by ultrasound.</p>