Construction and Application of YOLOv3-Based Diatom Identification Model of Scanning Electron Microscope Images / 法医学杂志

OBJECTIVES@#To construct a YOLOv3-based model for diatom identification in scanning electron microscope images, explore the application performance in practical cases and discuss the advantages of this model.@*METHODS@#A total of 25 000 scanning electron microscopy images were collected at 1 500× as an initial image set, and input into the YOLOv3 network to train the identification model after experts' annotation and image processing. Diatom scanning electron microscopy images of lung, liver and kidney tissues taken from 8 drowning cases were identified by this model under the threshold of 0.4, 0.6 and 0.8 respectively, and were also identified by experts manually. The application performance of this model was evaluated through the recognition speed, recall rate and precision rate.@*RESULTS@#The mean average precision of the model in the validation set and test set was 94.8% and 94.3%, respectively, and the average recall rate was 81.2% and 81.5%, respectively. The recognition speed of the model is more than 9 times faster than that of manual recognition. Under the threshold of 0.4, the mean recall rate and precision rate of diatoms in lung tissues were 89.6% and 87.8%, respectively. The overall recall rate in liver and kidney tissues was 100% and the precision rate was less than 5%. As the threshold increased, the recall rate in all tissues decreased and the precision rate increased. The F1 score of the model in lung tissues decreased with the increase of threshold, while the F1 score in liver and kidney tissues with the increase of threshold.@*CONCLUSIONS@#The YOLOv3-based diatom electron microscope images automatic identification model works at a rapid speed and shows high recall rates in all tissues and high precision rates in lung tissues under an appropriate threshold. The identification model greatly reduces the workload of manual recognition, and has a good application prospect.

An assessment of nutritional status in children on maintenance hemodialysis due to stage 5 chronic kidney disease / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the nutritional status of children on maintenance hemodialysis due to stage 5 chronic kidney disease (CKD) and the clinical significance of nutritional assessment indices.</p><p><b>METHODS</b>A total of 21 children on maintenance hemodialysis due to stage 5 CKD were grouped according to body mass index. The nutritional status was assessed based on anthropometric parameters, biochemical parameters, inflammatory factors, residual renal function, indices of dialysis adequacy, and resting energy expenditure. Related indices were compared between the children with malnutrition and those with normal nutritional status.</p><p><b>RESULTS</b>Of the 21 children, 10 had malnutrition and 11 had normal nutritional status. There were significant differences between the two groups in anthropometric parameters, levels of leptin, insulin-like growth factor-1, interleukin-1, interleukin-6, and tumor necrosis factor-α, and mean 24-hour residual urine volume (P<0.05), while there were no significant differences in albumin, prealbumin, CONCLUSIONS: urea clearance index (Kt/V), and measured resting energy expenditure.</p><p><b>CONCLUSIONS</b>Anthropometric parameters, biochemical parameters, residual renal function, and inflammatory factors have an important value in evaluating the nutritional status of children with stage 5 CKD on maintenance hemodialysis. Further studies are needed to investigate the value of the measurement of resting energy expenditure in the evaluation and monitoring of nutritional status in children with stage 5 CKD on maintenance hemodialysis.</p>

Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy / 神经科学通报·英文版

N-methyl-D-aspartate receptors (NMDARs), a subtype of glutamate-gated ion channels, play a central role in epileptogenesis. Recent studies have identified an increasing number of GRIN2A (a gene encoding the NMDAR GluN2A subunit) mutations in patients with epilepsy. Phenotypes of GRIN2A mutations include epilepsy-aphasia disorders and other epileptic encephalopathies, which pose challenges in clinical treatment. Here we identified a heterozygous GRIN2A mutation (c.1341T>A, p.N447K) from a boy with Rolandic epilepsy by whole-exome sequencing. The patient became seizure-free with a combination of valproate and lamotrigine. Functional investigation was carried out using recombinant NMDARs containing a GluN2A-N447K mutant that is located in the ligand-binding domain of the GluN2A subunit. Whole-cell current recordings in HEK 293T cells revealed that the N447K mutation increased the NMDAR current density by ~1.2-fold, enhanced the glutamate potency by 2-fold, and reduced the sensitivity to Mg inhibition. These results indicated that N447K is a gain-of-function mutation. Interestingly, alternative substitutions by alanine and glutamic acid at the same residue (N447A and N447E) did not change NMDAR function, suggesting a residual dependence of this mutation in altering NMDAR function. Taken together, this study identified human GluN2A N447K as a novel mutation associated with epilepsy and validated its functional consequences in vitro. Identification of this mutation is also helpful for advancing our understanding of the role of NMDARs in epilepsy and provides new insights for precision therapeutics in epilepsy.

Acute renal failure caused by rhabdomyolysis in children: a clinical analysis of 26 cases / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the clinical features and prognosis of acute renal failure (ARF) caused by rhabdomyolysis (RM) in children.</p><p><b>METHODS</b>A retrospective analysis was performed for the clinical data, laboratory examination, and prognosis of 26 RM children with ARF.</p><p><b>RESULTS</b>The causes for all 26 RM children with ARF were non-traumatic diseases, and the three most common causes were infection (69%), diabetes (12%), and metabolic disease (8%). In the RM children with ARF, the five most frequent clinical manifestations were fever (69%), multiple organ dysfunction syndrome (69%), convulsion (46%), oliguria or anuria (35%), and tea-colored urine (27%). All 26 children had a serum creatine kinase (CK) level of >1 000 IU/L, among whom 26 had increased aspartate aminotransferase, 25 had increased alanine aminotransferase, 25 had increased creatine kinase isoenzyme, and 23 had increased lactate dehydrogenase. Serum myoglobin (Mb) was measured in 22 children and was found to increase in all these children. The mean time for CK to decrease to below 1 000 IU/L was 10±5 d. There was no significant difference in the time to CK recovery between the 10 children who were treated with conventional treatment as well as continuous venous-venous hemofiltration and those who were not treated with blood purification (P>0.05). Of all 26 RM children with ARF, 7 were withdrawn from the treatment, and 19 had normal renal function after treatment.</p><p><b>CONCLUSIONS</b>ARF and multiple organ dysfunction syndrome are major complications in RM children. The major primary disease for RM children with ARF is infectious disease. CK is the major marker for the diagnosis of RM. Early diagnosis and appropriate treatment may reverse ARF and improve prognosis.</p>

The effects of paeoniflorin injection on soluble triggering receptor expressed on myeloid-1 (sTREM-1) levels in severe septic rats

Paeoniflorin (PAE) is the most abundant compound in Xuebijing injection widely used to treat sepsis. We aimed to investigate effect of PAE on expression of soluble triggering receptor expressed on myeloid cells-1 (sTREM-1) in a rat model of sepsis. Wistar rats were divided into Normal, Model, and PAE groups (n=20 each). Endotoxin was administrated at 5 mg/ml/kg in Model and PAE rats to establish rat sepsis model. 1 h after endotoxin administration, PAE was administrated at 4 ml/kg in PAE group once per day for 3 days. Routine blood tests and biochemical indexes were assessed, including aspartate aminotransferase (AST) and creatine kinase-MB (CK-MB). The plasma sTREM-1 level was measured using quantitative ELISA. At the end of experiment, the small intestine, liver, kidney and lung were subjected to pathological examinations. A rat model of sepsis-induced multiple organ dysfunction syndrome (MODS) was established successfully with endotoxin administration (5 mg/ml/kg), evidenced by histo-pathological examinations, routine blood tests and biochemical indexes: platelet count decreased and white blood cell count increased (p<0.05), CK-MB and AST increased (p<0.05). PAE treatment significantly reduced the plasma levels of AST, CK-MB, and sTREM-1, compared to Model group (p<0.05). Meanwhile, sepsis-induced damages in the liver, lung, stomach and intestinal mucosa were also markedly ameliorated by PAE treatment. PAE demonstrated a significantly protective effect in a rat model of sepsis by decreasing plasma sTREM-1 level, reducing inflammation, preventing MODS and protecting organ functions.

Clinical characteristics and prognosis of congenital solitary kidney combined with renal damage in children / 中华实用儿科临床杂志

Objective To analyze the clinical characteristics and the prognosis of congenital solitary kidney in 9 children and to find the causes of renal impairment and factors associated with the prognosis.Methods The clinical data of 9 children with congenital solitary kidney in Beijing Children's Hospital Affiliated to Capital Medical University were analyzed,retrospectively.Data of long-term prognosis were collected through follow-up study.Results Five girls and 4 boys were involved in the analysis,ranging from 3.9 to 16.0 years old.The mean inpatient age was 9.9 yearsold.The patients showed different symptoms in renal impairment of solitary kidney:9 patients with proteinuria,and 3 of them had manifestation of asymptomatic proteinuria,in the early stage,3 with abnormalities of renal functions,3 diagnosed as nephrotic syndrome,and 2 with purpuric nephropathy.In the ultrasound examination of renal morphology,4 cases had normal echo image,5 cases had enhanced echo image and 2 patients had developmental malformation of the solitary kidney.The patients received follow-up visits within 1.5 to 7.0 years.The disease deteriorated into chronic kidney disease (stage 4-5) in 3 patients,1 patient underwent dialysis treatment,1 patient developed consistent and progressive proteinuria;whereas proteinuria disappeared in 4 patients and renal functions remained normal.Conclusions The renal impairment of congenital solitary kidney is mainly manifested as proteinuria,without symptoms in the early stage.In some patients,renal impairment can deteriorate into abnormalities of renal function or renal failure.The early ultrasound screening of the urinary system is recommended.Long-term follow-up should be conducted in children of solitary kidney to find early renal impairment and take appropriate treatment for them,thus to delay the occurrence and deterioration of renal impairment.

Immunization in children with chronic renal diseases and undergoing dialysis / 中华实用儿科临床杂志

Most children patients with chronic kidney disease show immune disorders and defects of immune functionality.There are significant increases in various pathogen infections,especially streptococcus pneumonia,hepatitis B virus,and influenza virus.Streptococcus pneumonia is the most common cause of bacterial pneumonia and otitis media worldwide,and the main pathogens of bacterial meningitis as well.Children treated by hemodialysis are in high risk circumstance susceptible to hepatitis B virus.Influenza is a highly contagious disease with extremely strong dissemination capability.The organizations of U.S.Advisory Committee on Immunization Practices (ACIP),and Kidney Disease:Improving Global Outcomes (KDIGO) specifically recommends 3 vaccines,namely,hepatitis B virus,influenza virus (inactivated),and pneumococcal vaccine for patients with chronic kidney disease and chronic dialysis.Vaccination is a specific preventive and an effective protective measure for patients of chronic kidney disease and undergoing dialysis.

Analysis of DCX gene mutation in a patient featuring X-linked subcortical laminar heterotopia and epilepsy / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutation of Doublecortin (DCX) gene in a patient featuring X-linked subcortical laminar heterotopia (X-SCLH) and epilepsy.</p><p><b>METHODS</b>Mutation of the DCX gene was screened by PCR and direct sequencing. Pathogenicity of the mutation was analyzed with a PolyPhen-2 software.</p><p><b>RESULTS</b>A de novo missense mutation c.971T>C (p.Phe324Ser) was discovered.</p><p><b>CONCLUSION</b>A diagnostic method for X-SCLH has been established, which may facilitate diagnosis and genetic counseling of patients featuring this disease.</p>

Relation of serum estradiol and progesterone levels with abortive anticipation in pregnant women with fetal irritability and vaginal bleeding / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To investigate the serum levels of estradiol (E2) and progesterone (P) in patients with the auras of threatened abortion (ATA), i.e., fetal irritability and vaginal bleeding, and the relation with prognosis.</p><p><b>METHODS</b>Chinese medicine syndrome of 598 pregnant women with ATA consulted in authors' hospital were differentiated into 5 types, 151 patients of Shen-deficiency type; 151 of Pi-Shen deficiency type; 36 of qi-blood insufficiency type, 235 of blood-heat type, and 25 of traumatic injured type. Their serum levels of E2 and P at the 5th to 13th gestation week were monitored by competitive chemiluminescnet enzyme immunoassay. And the outcome of pregnancy, continued or defeated, was observed.</p><p><b>RESULTS</b>(1) From the 7th gestation week on, serum E2 level in women with continued pregnancy (CP) increased continuously, showed a higher value than that at the previous week (P < 0.05), and was higher than that in women with defeated pregnancy (DP) of same gestation age (P < 0.05). (2) Serum P level was not different in CP women at various gestation age (P > 0.05), but from the 7th week on, it was higher in CP women than in DP women of same gestation age (P < 0.05). (3) The comparison of serum E2 in CP versus DP of women with Shen-deficiency type or Pi-Shen deficiency type was identical to that in CP versus DP of all women enrolled.</p><p><b>CONCLUSIONS</b>Serum levels of E2 and P in women with ATA at 5th to 13th gestation weeks were obtained. The 7th week of pregnancy is the critical period of pregnancy development, a comparative high E2 levels and its sustained and steady elevation indicates the good-ending of pregnancy with fetal irritability and vaginal bleeding. The Chinese medicine syndrome presented in women with ATA is dominantly the Shen-deficiency type. The variation of serum E2 is one of the important material foundation in pregnancy with fetal irritability and vaginal bleeding of Shen-deficiency type.</p>

Investigating the iodine nourishment status of women of child-bearing age in the high risk region of iodine deficiency disorders in Qinghai Province in 2007 YANG Pei-zhen, HE Duo-long, WU Hai-kun, LI Yong, / 中国地方病学杂志

Objective To investigate the iodine nourishment in women of child-beating age in high risk region of iodine deficiency disorders (IDD) in Qinghai Province. Methods According to The Notice to Launch a Reinforced Survey on IDD in High Risk Region issued by The Ministry of Public Health, 17 counties in 6 districts were selected as investigated area in Qinghai Province in 2007, using two stage cluster sampling and combining The National IDD Preliminary Surveillance Scheme, 30 women aged from 18 to 40 years were selected in each village, 1 or 2 villages in each town, 3 to 5 towns in each county, who were divided into newly wedding, pregnant, lactation and other women of child-bearing age. Iodine concentration in urine was detected by the method of As3+-Ce4+catalytic spectrophotometry. Results One thousand six hundreds and four urine iodine samples were analyzed. The median was 93.3 μg/L,52.1%(836/1604),31.8%(510/1604) and 12.4%(199/1604) was lower than 100,50 and 20 μg/L, respectively. It was 70.5%(527/747) and 43.0%(128/298) of women in Yushu and Haixi that had urinary iodine lower than 100 μg/L, respectively, while it was 50% of women in the 6 districts, to be specific, 88.3%(91/103) in Nangqian, 83.8% (62/74) in Zaduo and 70.7%(118/167) in Zhiduo Counties respectively. The median of urinary iodine in women who were not lactating and not pregnant was only 88.6 μg/L, of whom 53.9% (763/1415) lower than 100 μg/L. Conclusions The women of reproductive age in high risk region of IDD are deficient of iodine in Qinghai Province.

Blood purification therapy in treatment of acute renal failure in infants with melamine-induced stones / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>In 2008, infants in some areas of China suffered from stones of the urinary system which were caused by melamine-contaminated milk formula. Most of the infants were asymptomatic, and a few suffered from acute renal failure induced by urinary obstruction by stones. This study aimed to assess the significance of blood purification therapy in treatment of infants with acute obstructive oligo-anuric renal failure. Corrective perception, timely diagnosis, and active treatment of this complex disease are critical factors that guarantee a quick recovery of renal function of infants and help them to prevent multiple organ system failure.</p><p><b>METHODS</b>Thirteen infants with acute renal failure induced by urinary multiple obstruction caused by melamine-containing stones who had been admitted to Beijing Children's Hospital Affiliated to Capital Medical University in 2008 were investigated for the epidemiological characteristics, image features and indications of dialysis. All these infants were treated with dialysis. The efficacy of dialysis was compared with that of two control groups treated with cystoscopic retrograde catheterization into the ureter and medical treatment for the recovery of renal function.</p><p><b>RESULTS</b>The 13 infants with life-threatening complications treated with dialysis showed a blood urea nitrogen (BUN) level of (30.9+/-7.9) mmol/L and a creatinine (Cr) level of (572+/-173) micromol/L. Of these infants, 8 were treated with peritoneal dialysis (PD), and 5 with hemodialysis (HD). Ten infants recovered to urinate 24-72 hours after dialysis and 3 infants with persistent ureteral obstruction were further treated with cystoscopic retrograde catheterization into the ureter for drainage, and urination resumed soon after the operation. The average time of PD and HD were (2.1+/-0.8) days and (1.2+/-0.4) days, respectively. The total average time of PD and HD dialysis was (1.77+/-0.83) days. The recovery time of renal function of infants after dialysis was (3.08+/-1.20) days, comparable to that of the two control groups treated with catheterization with a cystoscope or by medication. There was no significant difference in the recovery time of renal function among the three groups (P>0.05).</p><p><b>CONCLUSIONS</b>Melamine-contaminated milk formula may cause urinary stones and obstructive acute renal failure in infants. Dialysis is suggested to treat life-threatening complications such as hyperkalemia, oliguria or anuria if surgical intervention fails. If possible, hemodialysis or peritoneal dialysis can be performed early. Blood purification is feasible to help the infants overcome the critical stage of acute renal failure. Surgical measures can be taken to remove the obstruction if necessary.</p>

Correlation between B-natriuretic peptide and hemodynamics in patients with decompensated heart failure and clinical significance / 中华心血管病杂志

<p><b>OBJECTIVE</b>To determine the correlation between the serum level of B-natriuretic peptide (BNP) and hemodynamic variables and to evaluate the diagnostic value of BNP in patients with decompensated heart failure (HF).</p><p><b>METHODS</b>BNP levels (TRIAGE BIOSITE Diagnostics, San Diego, USA) were obtained by a rapid immunofluorescence assay in 117 patients with dyspnea including cardiogenic group (75 patients) and lung disease (42 patients). Hemodynamic parameters of 53 patients [male 28, female 25, mean age (71.6 +/- 9.8) years] with HF were determined and left ventricular end-diastolic diameter (LVEDD) of all patients were measured by echocardiogram.</p><p><b>RESULTS</b>Pulmonary capillary wedge pressure (PCWP, mm Hg), mean pulmonary arterial pressure (MPAP, mm Hg), right atrial pressure (RAP, mm Hg) and BNP (ng/L) levels according to New York Heart Association (NYHA) class were: 16.10 +/- 3.50, 22.50 +/- 4.68, 3.11 +/- 1.90, 271.25 +/- 159.29 in NYHA class II, respectively; 21.50 +/- 4.42, 28.60 +/- 9.35, 8.95 +/- 3.86, 619.58 +/- 237.48 in NYHA class III; 29.28 +/- 8.61, 36.50 +/- 12.32, 15.27 +/- 4.96, 1519.28 +/- 618.62 in NYHA class IV (P < 0.01-0.05), respectively. PCWP, MPAP, RAP and plasma BNP levels were directly proportional to cardiac function. The plasma BNP levels had also significant positive correlations with PCWP, MPAP, RAP, (r = 0.59, 0.50, 0.32, P < 0.05-0.01). BNP level [(918.48 +/- 453.25) ng/L] of the group with LVEDD (n = 24) > or = 60 mm was much higher than that of the group with LVEDD (n = 29) < 60 mm [(298.58 +/- 167.51) ng/L]. However, the latter was significantly higher than that in pulmonary dyspnea group with a normal left and right ventricular end-diastolic diameter [(35.4 +/- 26.4) ng/L, P < 0.01]. There was a great difference of BNP between cardiogenic dyspnea group [(761.30 +/- 480.47) ng/L]and lung dyspnea group [(35.4 +/- 26.4) ng/L], P < 0.01.</p><p><b>CONCLUSIONS</b>The plasma BNP levels had significant positive correlations with PCWP, MPAP, RAP. BNP is a cardiac neurohormone secreted from cardiac ventricles as a response to ventricular volume expansion and pressure overload. Rapid testing BNP should be of help to differentiate pulmonary dyspnea from cardiac etiologies.</p>

The analysis for identifying large DNA fragment aberrations of MSH2 and MLH1 genes from familial colorectal cancer in China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the frequency of large fragment aberrations of MSH2 and MLH1 genes from Chinese colorectal cancer (CRC) patients with family history.</p><p><b>METHODS</b>Sixteen exons of MSH2, nineteen exons of MLH1 and seven DNA sequences from the other genes of the samples were screened and checked by multiplex ligation dependent probe amplification (MLPA). First, the methodology was confirmed by testing the positive and negative control samples. Then, 32 CRC or hereditary nonpolyposis colorectal cancer (HNPCC) patients with family history and 20 cases of sporadic CRC were applied to investigate for the large fragment aberrations of MSH2 and MLH1 genes.</p><p><b>RESULTS</b>The genomic DNA fragment deletions of all positive controls were identified and verified by MLPA. Three cases of 32 familial (hereditary) CRC/HNPCC were detected and identified to be the germline heterozygous deletions of MSH2 gene, of which exons 1-7 were deleted from patient No.3, exon 11 from No.25 and exons 2-6 from No.11. However, no genomic DNA fragment aberration of either MSH2 or MLH1 gene was uncovered from 20 sporadic CRC.</p><p><b>CONCLUSION</b>Large DNA fragment aberrations of MSH2 gene was a frequent cause of Chinese HNPCC and CRC patients with family history, and the identification of those aberrations should be included in the regular genetic analysis for CRC/HNPCC patients.</p>

Analysis of germline mutations in the APC gene in familial adenomatous polyposis patients / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>This study was aimed at establishing an efficient mutation analysis technique system to screen the germline mutations in the adenomatous polyposis coli (APC) gene that predisposes the disease susceptibility in familial adenomatous polyposis (FAP) and to investigate the relationship between genotype and phenotype of APC gene.</p><p><b>METHODS</b>Genomic DNA was extracted from the peripheral blood lymphocytes of 22 patients with clinically diagnosed FAP and was forwarded to screening for germline mutations by using denaturing high-performance liquid chromatography(DHPLC), protein truncation test (PTT) and DNA sequencing in APC gene. Analysis of genotype-phenotype was also performed on the clinical data of the FAP patients.</p><p><b>RESULTS</b>Thirteen APC germline mutations were identified in 22 FAP patients. All of the mutations were nonsense or framshift mutations. Analysis of genotype-phenotype demonstrated that the FAP patients with mutations in the 5'or 3'extreme parts of the APC gene showed mild clinical symptoms. However, the FAP patients with mutations in the middle of the APC gene displayed typical or severe clinical symptoms.</p><p><b>CONCLUSION</b>The technique system established in this study can efficiently and sensitively detect the mutations in APC gene. It is useful in the molecular diagnosis of pre-symptomatic FAP cases in FAP family. The clinical features of FAP patients may be related to their genotypes of APC gene.</p>

Dystrophin and utrophin expression in muscle tissues of DMD mouse model after transplantation treatment by bone marrow mesenchymal stem cells / 中国医学科学院学报

<p><b>OBJECTIVE</b>To observe dystrophin and utrophin expression in muscle tissues of Duchenne muscular dystrophy (DMD) mouse model (dko mouse) after having been treated with bone marrow mesenchymal stem cells (MSC) transplantation.</p><p><b>METHODS</b>The fifth generation of MSCs, cultured in vitro, was transplanted into dko mice by tail vein. The fluorescent expression of dystrophin and utrophin in gastrocnemius muscle tissue of dko mouse was detected and the average optical density of positive fibers was calculated.</p><p><b>RESULTS</b>MSCs that had been cultured for three generations had good homogeneousness and the immunological reaction after vein transplantation was low. There was an increasing tendency of dystrophin and utrophin fluorescent expression in sarcolemma of dko mouse within 5-20 weeks. Significant difference existed in fluorescent average optical density of positive fibers fifteen weeks before and after cell transplantation.</p><p><b>CONCLUSIONS</b>MSC has strong plasticity both in vitro and in vivo. MSC has a trend to reach the injured muscle tissues and turn into muscle fibers, which express dystrophin and utrophin. There is some plerosis function for myatrophy of dko mouse by MSC transplantation.</p>

The detection of microsatellite instability by ion-pair reversed-phase high performance liquid chromatography / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To set up a sensitive and stable technique which has high throughout to detect the instability of microsatellite DNA.</p><p><b>METHODS</b>Genomic DNA extracted from the cancer tissues and their normal tissues were subjected to microsatellite instability(MSI) analysis on five of DNA markers in 115 sporadic colorectal cancers by means of PCR and ion-pair reversed-phase high performance liquid chromatography. Genomic DNA extracted from lymphocytes in blood of 20 normal persons were analysed and used as the standard control.</p><p><b>RESULTS</b>Seventeen (14.8%) MSI-H and 23(20.0%) MSI-L were found in 115 sporadic colorectal cancers. The rates of MSI in the young patients and old patients were much higher than that in the middle-age patients (P<0.05). And the rate of MSI in low differentiation group was also much higher than that in high or middle differentiation groups (P<0.05).</p><p><b>CONCLUSION</b>The method the authors developed is a sensitive and accurate technique to detect MSI and has a high throughput.</p>

Application of the Bgl II-Bln I dosage test to gene diagnosis of facioscapulohumeral muscular dystrophy 1A gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To increase the sensitivity and specificity of conventional gene diagnosis of facioscapulohumeral muscular dystrophy 1A(FSHD1A) by analyzing the distribution of translocation between chromosomes 4q35 and 10q26 in suspected FSHD cases.</p><p><b>METHODS</b>The Bgl II- Bln I dosage test was performed to detect translocation between chromosomes 4q35 and 10q26 in 7 cases of presymptomatic FSHD patients showing positive result in gene diagnosis and 5 cases of sporadic FSHD patients showing negative result in gene diagnosis. DNA samples were digested with Bgl II and Bln I, followed by agrose gel electrophoresis. Probe p13E-11 was labeled with alpha-(32) P dCTP, followed by Southern hybridization. Then the ratio between the chromosomes 4 and 10 derived signal intensities was judged and hence was made known whether there was interchromosomal translocation between chromosomes 4 and 10.</p><p><b>RESULTS</b>The Bgl II-Bln I dosage test revealed a translocation from chromosome 4q35 to 10q26 in one presymptomatic FSHD patient, thus indicating the result of gene diagnosis for her might be false positive. There was one translocation from chromosome 10q26 to 4q35 detected in one sporadic FSHD patient, indicating the result of gene diagnosis for her might be false negative. There were no translocations between chromosomes 4 and 10 in the other 10 cases.</p><p><b>CONCLUSION</b>The Bgl II-Bln I dosage test can detect the translocation between chromosomes 4q35 and 10q26. It can improve the accuracy of the conventional method for gene diagnosis of FSHD1A.</p>

Translocation between chromosomes 4q35 and 10q26 in facioscapulohumeral muscular dystrophy / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the distribution of translocation between chromosomes 4q35 and 10q26 in facioscapulohumeral muscular dystrophy (FSHD) patients and normal individuals.</p><p><b>METHODS</b>The Bgl II-Bln I dosage test was performed to study the distribution of translocation between chromosomes 4q35 and 10q26 in 70 cases of FSHD patients, 55 cases of kindred with FSHD, and 52 cases of normal controls.</p><p><b>RESULTS</b>(1) In normal individuals, the frequency of translocation between chromosomes 4q35 and 10q26 is 19.23%. The frequency of translocation from chromosome 4q35 to 10q26 and that from chromosome 10q26 to 4q35 are both 9.62%. (2) In the FSHD patients, the frequency of translocation between chromosomes 4q35 and 10q26 is 18.57%. The frequency of translocation from chromosome 4q35 to 10q26 and that from chromosome 10q26 to 4q35 are 12.86% and 5.71% respectively.</p><p><b>CONCLUSIONS</b>The translocation between chromosomes 4q35 and 10q26 was frequently observed in both normal Chinese population and FSHD patients. No significant difference was observed between them.</p>

Killer Ig-like receptor gene content diversity and haplotype analysis in Chinese Han population in Shanghai / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect the diversity of killer Ig-like receptor(KIR) gene content and the combination of haplotypes in Chinese Han population in Shanghai area.</p><p><b>METHODS</b>DNA samples from 87 randomly unrelated healthy individuals in Shanghai Han population were genotyped with SSP/PCR method.</p><p><b>RESULTS</b>(1) Frequencies of KIR genes: All of 18 known KIRs genes, such as 2DL1-5, 2DS1-5, 3DL1-3, 3DS1, KIR1D and the pseudogenes X, Xv and Z(KIR2DP1) were observed in Shanghai Hans. All individuals contain 3DL3, 2DL4, 3DL2 and 3DL1; the most common genes were 2DL3, Z, 2DL1 and X; the following were 2DS4, 1D, 2DL5, 2DS1, 3DS1 and 2DS5; the next were 2DS2, 2DL2, 2DS3 and Xv. (2) Frequencies of KIR gene haplotypes; there were 13 haplotypes detected in 87 Han individuals, among them, the most frequent one was type 2 (haplotypeA-2DS4). (3) Frequencies of KIR genotypes: 18 kinds of the combinations of the haplotypes were observed; the most frequent ones were AJ(2,2), AF (1,2). Also, In this study were identified five new genotypes FZ1 2 9 , FZ2 1 16 , FZ3 6 17 , FZ4 4 13 and FZ5 2 6 ,which had not been observed in Caucasians so far.</p><p><b>CONCLUSION</b>These findings suggest that there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Chinese Han population in Shanghai area.</p>

Large deletion in mismatch repair genes uncovered by quantitative multiplex PCR-high performance liquid chromatography system / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>Establishing a new method on the basis of multiplex PCR-high performance liquid chromatography (HPLC) for screening a large deletion in mismatch repair genes.</p><p><b>METHODS</b>Thirty-five pairs of primers were used to amplify all 16 exons of MSH2 and all 19 exons of MLH1 gene in 8 multiplex PCR. The products of multiplex PCR were analysed for the large deletion with Double Strand DNA Analysis System of HPLC. Firstly, validation of the method was tested on positive and negative controls in blind analysis. Secondly, 14 blood cell DNA samples from hereditary nonpolyposis colorectal cancer (HNPCC) patients and 13 colorectal cancer (CRC) tissues DNA samples from sporadic CRC patients were checked with the new developed method.</p><p><b>RESULTS</b>(1) the genomic deletions in all 4 of positive controls were identically uncovered with the new method; (2) a novel germline and a novel somatic large deletions were unveiled in 1/14 HNPCC patients and in 1/13 CRC tissues.</p><p><b>CONCLUSION</b>The method developed on multiplex PCR-HPLC is reliable for uncovering large genomic deletion in mismatch repair genes, and can be taken as a valuable addition to mutation screening system.</p>