Application of molecular markers in the research of genetic diversity in medical helminths / 中国热带医学

@#Human-animal parasitic diseases caused by medical helminths are hazardous to human health. Genetic polymorphism studies on medical helminth populations can not only understand the biological characteristics and genetic structure of their populations, but also help reveal how they adapt to their parasitic environment, thus contributing to deepen our understanding of the epidemiological patterns of parasitic diseases and improve our understanding of accurate prevention and control of parasitic diseases. With the development of molecular biology, molecular markers such as DNA barcodes, simple sequence repeats, and single nucleotide polymorphism markers have been widely used to study the genetic relationships among parasite populations and individuals, and to reveal the genetic variation of parasite populations and the evolution of species origins. In this paper, we systematically review the application of three molecular markers commonly used in the study of genetic polymorphism in medical helminths, with a view to laying the foundation for related research.

Research Progress of Targeted Ultrasound Contrast Agent BR55 / 中国医学科学院学报

BR55 is an ultrasound contrast agent targeting vascular endothelial growth factor receptor 2,which can be used to detect tumor neovascularization and improve the diagnostic accuracy.Overseas researchers have used BR55 for human ultrasound molecular imaging,which showed good safety and tolerance.We reviewed the research progress on BR55 applied in the evaluation of tumor neovascularization from the composition,characteristics,animal experiments,and clinical studies of BR55.

Efficacy and safety of Morinda officinalis oligosaccharide capsules for depressive disorder: a systematic review and meta-analysis

Objective: To evaluate the efficacy and safety of Morinda officinalis oligosaccharide (MOO) capsules for depressive disorder. Methods: Eight electronic databases were searched for relevant studies from inception to April 19, 2020. Randomized controlled trials comparing MOO capsules with antidepressants were included. Data analysis was conducted using Review Manager 5.3 software. The risk of bias was assessed using the Cochrane Risk of Bias Tool, and the quality of the studies was evaluated by two researchers using the Grading of Recommendation, Assessment, Development and Evaluations (GRADE) software. Results: Seven studies involving 1,384 participants were included in this study. The effect of MOO capsules for moderate depressive disorder was not different from that of antidepressants (risk ratio [RR] = 0.99, 95%CI 0.92-1.06). Regarding adverse events, no significant difference was found between MOO capsules and antidepressants (RR = 0.84, 95%CI 0.65-1.07). In addition, the quality of evidence related to these adverse events was rated as low. Conclusion: This systematic review suggests that the efficacy of MOO capsules in the treatment of mild to moderate depression is not inferior to that of conventional antidepressants, which may provide a new direction for clinical alternative selection of antidepressants. However, more high-quality research and detailed assessments are needed.

Triggering factors of acute ischemic stroke: a hospital-based cross-sectional observational study / 国际脑血管病杂志

Objective:To investigate the triggering factors of ischemic stroke and their correlation with stroke severity and traditional risk factors.Methods:The clinical data of patients with ischemic stroke within 2 weeks of the onset were collected retrospectively. They were divided into two groups according to the questionnaire of triggering factors. The demographic and baseline data of the two groups were compared. According to the National Institutes of Health Stroke Scale (NIHSS) score, the patients were divided into low NIHSS score group (≤8) and high NIHSS score group (>8). The demographic and baseline data were compared. Multivariate logistic regression analysis was used to determine the independent related factors of the existence of triggering factors in patients with ischemic stroke and the correlation between the existence of triggering factors and the severity of stroke. Results:A total of 217 patients were enrolled in the study. Their age was 63.4±12.8 years and 148 were male (68.2%). One hundred and nine patients had at least one triggering factor. Common triggering factors were sleep disorders (46.8%), infection (18.4%), and missed medication (13.8%). Multivariate logistic regression analysis showed that after adjusting for confounding factors, diabetes mellitus (odds ratio [ OR]2.496, 95% confidence interval [ CI]1.347-4.626; P=0.047), large artery atherosclerosis ( vs. small vessel occlusion: OR 2.168, 95% CI 1.060-4.343; P=0.034) and baseline NIHSS score (the fourth quartile vs. the first quartile: OR 2.320, 95% CI 1.043-5.162; P=0.039) were independently associated with the existence of triggering factors in patients with ischemic stroke, and any of the triggering factors was independently associated with stroke severity ( OR 2.042, 95% CI 1.106-3.770; P=0.023). Conclusion:Diabetes and the severity of stroke are associated with the existence of triggering factors in patients with ischemic stroke. Stroke severity in ischemic stroke patients with triggering factors is more severe.

Assessing food and nutrition literacy and its related factors in school-age children in Baoding / 中国学校卫生

Objective@#To assess the food and nutrition literacy level of school-age children and its related factors, and to provide targets for further nutrition health education and nutrition improvement action.@*Methods@#A total of 4 359 school-age children, from third to eighth grade in 2 middle schools and 3 primary schools of Baoding city of Hebei Province, were selected as subjects using convenient sampling method. For all participants’ food and nutrition literacy evaluation, social demographic characteristics and family food environment were investigated.@*Results@#The average score of food and nutrition literacy of valid respondents was (61.91±9.22), and the scores of functional, interactive and critical literacy increased successively. The score of food and nutrition knowledge was higher than that of skill, and the score of "food intake" skill was the lowest(60.45±11.00). Children’s food and nutrition literacy increased with age and grade during primary school period, but the literacy of junior school students was lower than that of high-level graders in primary school(P<0.05). Children who were female, the only children, non-resident in school, urban registered permanent residence, in a more affluent family, cared by their parents/grandparents with a higher education level, and had nutrition education experience in school, had significantly higher food and nutrition literacy(P<0.05). But the interactive literacy of only children, non-resident in school and urban registered children was significantly lower(P<0.05). The family food environment was significantly correlated with children’s food and nutrition literacy. The total score of food nutrition literacy was higher for the children who often had fruits at home, rarely ate out, eating without screen, and communicated food and nutrition information with families frequently(P<0.05).@*Conclusion@#The food and nutrition literacy of school-age children is not high, which is related with individual and family’s demographic characteristic, nutrition education experience in school and family food environment. Children in rural areas and younger age, with a large number of family children and poor family economic status and food environment, should be the main target population of nutrition education and nutrition improvement.

The characteristics of blood glucose fluctuations in patients with fulminant type 1 diabetes mellitus in the stable stage

ABSTRACT Objective: The aim was to characterize blood glucose fluctuations in patients with fulminant type 1 diabetes (FT1DM) at the stable stage using continuous blood glucose monitoring systems (CGMSs). Subjects and methods: Ten patients with FT1DM and 20 patients with classic type 1 diabetes mellitus (T1DM) (the control group) were monitored using CGMSs for 72 hours. Results: The CGMS data showed that the mean blood glucose (MBG), the standard deviation of the blood glucose (SDBG), the mean amplitude glycemic excursions (MAGE), the blood glucose areas and the percentages of blood glucose levels below 13.9 mmol/L were similar between the two groups. However, the percentage of blood glucose levels below 3.9 mmol/L was significantly higher in the FT1DM group compared to the T1DM group (p < 0.05). The minimum (Min) blood glucose level in the FT1DM group was significantly lower than that of the T1DM group (p < 0.05). Patients with FT1DM had severe dysfunction of the islet beta cells and alpha cells compared to patients with T1DM, as indicated by lower C-peptide values and higher glucagon/C-peptide values. Conclusion: In conclusion, patients with FT1DM at the stable stage were more prone to hypoglycemic episodes as recorded by CGMSs, and they had a greater association with severe dysfunction of both the beta and alpha islet cells compared to patients with T1DM.

Observation on the curative effect and pregnancy outcome of early cervical cancer patients undergoing fertility function retention surgery via laparoscopy / 中国综合临床

Objective To analyze the outcome of oncology and pregnancy on patients with early-stage cervical cancer after undergoing fertility function retention surgery via laparoscopy.Methods Sixty-seven patients with early cervical cancer treated in Huangshi Central Hospital from January 2011 to January 2015 were selected as the research subject;27 patients in the research group were given fertility-sparing operation,also known as transvaginal cervical cold knife conization(CKC) and laparoscopic pelvic lymphadenectomy (PLD) or total laparoscopic uterine cervix extensive resection(RT)),and the patients in the control group (40 cases)were given laparoscopic uterine extensive resection (RH);the perioperative condition,intraoperative condition and postoperative recurrence of two groups were compared,and the postoperative pregnancy status of the patients in the research group were analyzed.Results Among the 27 patients in the research group,2 patients whose intraoperative pathological examination results did not meet the standards for the fertility-sparing operation were finally treated with RH,and the other 25 patients were successfully given CKC+PLD or RT;In the research group,the intraoperative blood loss,postoperative exhaust time and hospital stay were better than those in the control group,and the differences were statistically significant (intraoperative blood loss:(85.6 + 25.5) ml,(102.5 ± 31.2) ml,t =2.429,P =0.018;postoperative exhaust time:(1.4± 0.3) d,(1.7 ±0.5) d,t =3.065,P =0.003;hospital stay:(10.2±2.4) d and (12.3±3.5),t =2.913,P=0.005),there was no statistically significant difference between the two groups in the operation time,incidence of urinary retention and postoperative infection (P＞0.05);the differences between the two groups in the number of removed pelvic lymph nodes,length of cardinal ligament,length of uterosacral ligament,length of removed vaginal were not statistically significant(P＞0.05);after 24 months of follow-up,the difference in postoperative recurrence rate of the two groups(4.0％ (1/25) vs.5.0％(2/40)) was not statistically different (P＞0.05);among 25 patients with fertility-sparing operation,20 patients had pregnancy desire,and 6 patients were successfully pregnant(6/ 20),including 2 cases of full-term labor,2 cases of preterm delivery and 2 cases of abortion.Conclusion Fertility-sparing surgery via laparoscope of early cervical cancer has good curative effect and reliable security,but the outcome of pregnancy is not ideal,and need to be improved.

Correlation between Blood Flow Signal of Magnetic Resonance Imaging and Short-term Outcome in Patients with Symptomatic Severe Stenosis or Occlusion of Middle Cerebral Artery M1 segment / 中山大学学报(医学科学版)

[Objective] To investigatethe correlation between blood flow signal on three dimensional time-of-flight magnetic resonance angiography (3D-TOF-MRA) and short-term outcome in patients with symptomatic middle cerebral artery (MCA) severe stenosis or MCA occlusion.[Methods] We retrospectively reviewed consecutive patients with symptomatic MCA severe stenosis or MCA occlusion.General information,clinical data and cranial imaging data were collected.Characteristics of blood flow signal on 3D-TOF-MRA for each patient were analyzed,which included:(1) blood flow signal of MCA distal to stenosis/occlusion lesion;(2) laterality of posterior cerebral artery (PCA).The correlation between characteristics of blood flow signal and short-term outcome was analyzed.[Results] Three hundred and twenty-eight patients were included in this study.There were 154 patients with symptomatic MCA severe stenosis and the rest of them had symptomatic MCA occlusion.Poor blood flow signal of distal MCA independently correlated with poor shortterm outcome in patients with severe MCA stenosis.[Odds Ratio (OR) 0.32,95％ Confident Interval (CI) 0.14～0.72].PCA laterality was not related with short-term outcome in these patients (OR,2.28,95％ CI,0.85～6.15).PCA laterality independently correlated with poor short-term outcome in patients with MCA occlusion.(OR,3.54,95％ CI,1.32～ 9.78).Blood flow signal of distal MCA was not related with short-term outcome in these patients (OR,0.58,95％ CI,0.22～1.48).[Conclusion] Blood flow signal on 3D-TOF-MRA correlates with short-term outcome in patients with symptomatic MCA severe stenosis or occlusion but the characteristics differs between severe MCA stenosis and occlusion patients.Anterograde blood flow (blood flow signal of MCA distal to stenosis lesion) for patients with severe MCA stenosis and retrograde blood flow (PCA laterality) for patients with MCA occlusion correlates with shot-term outcome.

Identification of chemical constituents of Yuanhu Zhitong prescription by HPLC-QTOF/MS / 药学学报

This study was designed to clarify the chemical constituents in Yuanhu Zhitong prescription (YHZT), a rapid high performance liquid chromatography/electrospray ionization quadruple time-of-flight mass spectrometry (HPLC-QTOF/MS) method was established. Based on the high resolution MS spectra data, fragmentation ion information, reference standards data and literature reports, 51 peaks including 28 alkaloid compounds and 23 coumarin compounds were identified. The chemical constituents in YHZT were rapidly, accurately, systematically analyzed. The results lay a foundation for the quality control of effective compounds of YHZT.

Application of preoperative neoadjuvant chemotherapy in cervical cancer patients undergoing surgical treatment / 国际肿瘤学杂志

Objective To explore the clinical effect of preoperative neoadjuvant chemotherapy on locally advanced cervical cancer.Methods From March 2010 to November 2013,284 cases of stage Ⅰ B2 and stage Ⅱ A2 cervical cancer who underwent radical operation in our hospital were divided into experimental group (n =172) and control group (n =112) according to the patients' will.The experimental group was treated by neoadjuvant chemotherapy (paclitaxel combined with oxaliplatin) before surgery,while the control group was treated by surgery alone.The effect of chemotherapy of experimental group was evaluated,and the operative time,blood loss,adjuvant therapy rates after operation,positive rates of resection margin,pathological characteristics,overall survival (OS) and relapse free survival (RFS) of the two groups were compared.Results The effective rate of neoadjuvant chemotherapy was 76.74％ (132/172),while the effective rate in Ⅰ B2 patients was 82.80％ (77/93) and in Ⅱ A2 patients was 69.62％ (55/79),with a statistically significant difference (x2 =4.155,P =0.042).The operation time of experimental group [(231.71 ±29.04) min] was shorter than that of control group [(253.12 ± 30.97) min,t =5.914,P ＜ 0.001].The adjuvant therapy rate after operation of experimental group was lower than that of control group (61.05％ vs.76.79％,x2 =7.630,P=0.006).There was no significant difference in bleeding volume between the two groups [(614.33 ± 120.19) ml vs.(622.84 ± 131.27) ml,t =0.562,P =0.574],and there were no positive cases of vaginal incision in the two groups.The rates of deep cervical stromal invasion (x2 =6.752,P =0.009),parametrial metastasis (x2 =4.359,P =0.037),vascular infiltration (x2 =5.310,P =0.021),cervical canal involving (x2 =11.022,P ＜ 0.001) and lymph node metastasis (x2 =6.830,P =0.009) of experimental group were significantly lower than those of control group.The median follow-up was 31.5 (4.5-42.0) months and 33.4 (4.5-42.0) months in control and experimental group.There were no significant differences in 3-year RFS (52.68％ vs.60.47％,HR =0.746,95％ CI:0.507-1.067,P =0.109) and 3-year OS (79.46％ vs.81.40％,HR=0.732,95％CI:0.436-1.203,P=0.214) between the two groups.Conclusion The preoperative neoadjuvant chemotherapy is effective for patients with cervical cancer.It can shorten the operation time,improve the pathologic features and decrease the lymph node metastasis rate.But it can not significantly reduce the long-term recurrence rate or improve the long-term survival rate.

Clinical features and early treatment effects in intermediate risk and poor risk acute myeloid leukemia with EVI1 positive / 北京大学学报(医学版)

Objective:To investigate the clinical biological characteristics of EVI1 positive acute myeloid leukemia (AML) and its effect on early chemotherapy.Methods:The clinical and biological characteristics of 33 AML patients with EVI1 positive were retrospectively analyzed in 361 AML patients who were diagnosed and treated in our institute from March 2015 to July 2016,and the clinical and biological features,and rates of the induced remission were compared between the intermediate risk and poor risk with EVI1 positive AML,moreover,the influential factors on complete remission (CR) were analyzed.The expression of EVI1/ABL was tested in 32 healthy donors to confirm the abnormal threshold of EVI1 expression.Results:The definition of EVI1 positive was that the quantitative expression of EVI1/ABL was more than 8.0％.The 33 AML patients with EVI1 positive were found in 361 newly diagnosed AML patients,in which the female and male patients were 17 and 16 respectively,the median age was 45 (18-67) years,with a median follow-up of 6.6 (0.7-13.2) months.Intermediate karyotype was found in 17 patients (including 9 patients with normal karyotypes,1 patient with + 8);unfavorable karyotype was found in 14 patients [including 7 patients with-7/7q-,4 patients with t (v;11q23),3 patients with inv (3)/t (3;3),and 2 patients without mitotic figures].The rate of CR in the first induction chemotherapy was 42.4％,and the rate of total CR was 60.6％.According to the NCCN,16 intermediate risk patients and poor risk patients were divided,without favorable risk patients.The rate of CR in the first induction chemotherapy were 68.8％ and 17.6％ (P =0.005) in the intermediate risk and poor risk respectively,that of total CR were 81.3％ and 41.2％ (P =0.032),and the rates of relapse were 7.7％ and 14.3％.Univariable analysis revealed that unfavorable karyotype could affect the rate of CR in the first reduction chemotherapy and that of total CR (P =0.004,0.029).The poor risk patients had higher mortality (41.2％ vs.6.3％,P =0.039) and lower overall survival (OS) (P =0.012).Conclusion:EVI1 may be not an independent prognostic factor for the AML patients considering the appearance in the intermediate and poor risk patients.It predicts poor outcome in the EVI1 positive AML patients who have unfavorable karyocytes,such as-7/7q-,t (v;11 q23),and inv (3)/t (3;3),and also a low rate of both CR in the first induction chemotherapy and total CR.It also has a low rate of long-term survival and high mortality in the AML patients with EVI1 positive,who may benefit from allogeneic bone marrow transplantation as soon as possible.

Diagnostic Ureteroscopy for Upper Tract Urothelial Carcinoma is Independently Associated with Intravesical Recurrence after Radical Nephroureterectomy

ABSTRACT Purpose: To determine the effect of diagnostic ureteroscopy on intravesical recurrence in patients with upper tract urothelial carcinoma (UTUC) after radical nephroureterectomy (RNU). Materials and Methods: We conducted a retrospective analysis of 664 patients who were treated with RNU for UTUC from June 2000 to December 2011, excluding those who had concomitant/prior bladder tumors. Of the 664 patients, 81 underwent diagnostic ureteroscopy (URS). We analyzed the impact of diagnostic ureteroscopy on intravesical recurrence (IVR) using the Kaplan-Meier method. Univariate and multivariate analyses were used to determine the independent risk factors. Results: The median follow-up time was 48 months (interquartile range (IQR): 31-77 months). Patients who underwent ureteroscopy were more likely to have a small (p<0.01), early-staged (p=0.019), multifocality (p=0.035) and ureteral tumor (p<0.001). IVR occurred in 223 patients during follow-up within a median of 17 months (IQR: 7-33). Patients without preoperative ureteroscopy have a statistically significant better 2-year (79.3%±0.02 versus 71.4%±0.02, p<0.001) and 5-year intravesical recurrence-free survival rates (64.9%±0.05 versus 44.3%±0.06, p<0.001) than patients who underwent ureteroscopy. In multivariate analysis, the diagnostic ureteroscopy (p=0.006), multiple tumors (p=0.001), tumor size <3cm (p=0.008), low-grade (p=0.022) and pN0 stage tumor (p=0.045) were independent predictors of IVR. Conclusions: Diagnostic ureteroscopy is independently associated with intravesical recurrence after radical nephroureterectomy.

Chemical onstituents and mechanism of Corydalis Rhizoma based on HPLC-QTOF/MS and G protein-coupled receptor analysis / 药学学报

The chemical constituents of Corydalis Rhizoma were identified in the 60% ethanol extract using high performance liquid chromatography/electrospray ionization quadruple time-of-flight mass spectrometry (HPLC-QTOF/MS). The stimulation and inhibition effects of Corydalis Rhizoma and its representative compounds (protopine, palmatine, tetrahydropalmatine) on G protein-coupled receptor (GPCR), including 5-hydroxytryptamine 1A receptor (5-HT1A), μ opioid receptor (OPRM1), β2 adrenergic receptor (ADRB2), dopamine receptor (D2), acetylcholine receptor (M2) and thromboxane-prostaglandin receptor (TP) were explored using the fluorescence assay of intracellular calcium ion. As a result, 31 compounds were obtained and 28 alkaloid compounds were identified. The results of GPCR experiments showed that Corydalis Rhizoma could activate 5-HT1A, OPRM1, ADRB2 receptors and block D2 receptor. Protopine showed antagonism on D2 and M2 receptors, tetrahydropalmatine could agitate ADRB2 receptor and antagonize D2 and TP receptors, while palmatine showed no significant biological activity on the 6 GPCRs. In conclusion, Corydalis Rhizoma may exert biological activity by multi-components acting on multi-targets.

Correlation between Ultrasound-guided Diffuse Optical Tomography and Hypoxia-inducible Factor-1Α of Breast Cancer / 中国医学科学院学报

Objective To investigate the correlation between ultrasound-guided diffuse optical tomography (US-DOT) and hypoxia-inducible factor-1Α (HIF-1Α) of breast cancer. Methods Totally 69 patients with pathologically confirmed breast cancer underwent preoperative conventional breast ultrasonography examinations and US-DOT at Peking Union Medical College Hospital From October 2007 to February 2010 were enrolled in this study.After surgery,immunohistochemical staining of HIF-1Α and CD34 were performed,and the differences of total hemoglobin concentration (THC) and microvessel density (MVD) between HIF-1Α positive and negative groups were analyzed. Results HIF-1Α was positive in 12 cases (17.4%) and negative in 57 cases (82.6%). The average THC and MVD of HIF-1Α-positive cases were (274.763±77.661) Μmol/L and (33.8±10.8)/0.2 mm(2) respectively. The average THC and MVD of HIF-1Α-negative cases were (228.059±65.760)Μmol/L and (28.4±7.4)/0.2 mm(2). MVD(t=2.049,P=0.04) and THC(t=2.167,P=0.034) of HIF-1Α-positive group were significantly higher than those of HIF-1Α-negative group. Conclusions HIF-1Α can promote tumor angiogenesis and thus increase the blood supply and THC. As an indicator of tumor blood supply,THC can indirectly reflect the angiogenic activity of breast cancer.

Ultrasonographic Features of Pseudomyxoma Peritonei and TheirComparison with Computed Tomographic Findings / 中国医学科学院学报

<p><b>OBJECTIVE</b>To investigate the value of ultrasound in the diagnosis of pseudomyxoma peritonei (PMP) and summarize the ultrasonographic features of PMP by comparing with computed tomography (CT) findings.</p><p><b>METHOD</b>Ultrasound and CT scan results of 25 patients with PMP confirmed by pathology after surgery were analyzed retrospectively.</p><p><b>RESULTS</b>Among these 25 PMP patients,three were diagnosed by ultrasound and six by CT(P=0.579). The specific ultrasonographic features of PMP were as follows:the dense punctuate echoes or floccules were detected in hydrops abdominis,which seldom or never move with the change of body position. Honeycomb-like lesions were typical. Notches were formed on the surface of liver or spleen due to the mucinous material and/or the mucinous lesions.</p><p><b>CONCLUSIONS</b>Both ultrasound and CT scan have poor detection rate in the diagnosis of PMP. PMP has specific ultrasonographic features,which may make it possible to diagnose most PMP lesions by ultrasound before surgery</p>

Study on the relationship between partial deletions in the azzospermia factor C region of Y chromosome and male infertility / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between the partial deletions in the azzospermia factor(AZFc) region of Y chromosome and male infertility.</p><p><b>METHODS</b>Multiplex PCR technology was performed to screen the partial deletions in the AZFc region in 158 azoospermia, 160 severe oligozoospermia and 135 oligozoospermia patients and 236 men with normal spermatogenesis.For samples with gr/gr, b2/b3 recombinogenic deletions, author applied RFLP method to identify which DAZ gene doublet deletion was involved.</p><p><b>RESULTS</b>The gr/gr and b2/b3 were two types of common deletions detected. There were significant differences in the b2/b3 deletion in patients with oligozoospermia and severe oligozoospermia compared to the controls (both P< 0.05). However, there was no difference for the gr/gr deletion between the patients and controls.</p><p><b>CONCLUSION</b>The results suggested that the b2/b3 deletion might be a risk factor to spermatogenic impairment and might lead to male infertility.</p>

A genetic study on microdeletion of azoospermia factor region on Y chromosome of azoospermia and oligozoospermia patients / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the genetic causes of azoospermia and severe oligozoospermia.</p><p><b>METHODS</b>Cytogenetic analysis and multiplex polymerase chain reaction(PCR) analysis were done on the 148 patients with azoospermia and serious oligozoospermia.</p><p><b>RESULTS</b>Eleven of the 148(7.4%) cases showed microdeletion of at least one STS. In fifteen STS of AZFa, AZFb,AZFd, AZFc, thirteen STS, eleven STS,two STS and one STS microdeletion were found in each case respectively, including two with 12 STS, five with 5 STS microdeletion.Seven cases had chromosomal morphologic changes(4.7%),four had deletion and one had deletion with translocation of long arm on Y chromosome. One had enlarged region one band two(q12) on long arm of Y chromosome and one had reciprocal translocation of autosomes.</p><p><b>CONCLUSION</b>The findings indicated that AZF microdeletion and chromosomal abnormality should be important causes of male infertility.</p>

Using multiplex PCR to analyze the breakpoint of a severe Y-chromosome deletion / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To elucidate the relationship between azoospermia factor(AZF) microdeletion of Y chromosome and azoospermia, the exact breakpoint of a severe Y-chromosome deletion was determined according to the physical map of AZF.</p><p><b>METHODS</b>Multiplex polymerase chain reaction was used to amplify fifteen sequence tagged sites (STS), namely sY82, sY84, sY86 in AZFa, sY124, sY127, sY128, sY133, sY134, sY143 in AZFb, sY239, sY242 sY254, sY255 in AZFc, and sY145, sY152 in AZFd; sex-determining region Y(SRY) was taken as an internal control. And then sY82,sY86,sY85,sY84 were further analyzed using the sample of the patient who had Y-chromosome deletion by G band analysis to map the breakpoint at molecular level.</p><p><b>RESULTS</b>All 15 STS and sY85 were amplified in positive control while only sY82, sY86 were amplified in the clinical sample, thus the breakpoint was found to be between sY86 and sY85.</p><p><b>CONCLUSION</b>This study on the patient provided the direct biomolecular evidence of the exact breakpoint of the severe Y-chromosome deletion and established the deletion map of acrocentric chromosome. It also proved that the patient's azoospermia was due to the deletion of AZF.</p>

A cytogenetic and molecular genetic study on microdeletion of AZF region on Y chromosome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the morphology of Y chromosome and microdeletion of the correlated specific azoospermia factor(AZF) region on Y chromosome in cases of azoospermia and to identify the genetic diagnosis made for male infertility patients.</p><p><b>METHODS</b>Peripheral blood samples were taken from two patients with azoospermia, and then were examined by use of G banding, C banding cytogenetic analysis and multiplex polymerase chain reaction (PCR) microdeletion analysis.</p><p><b>RESULTS</b>The karyotypes of the two cases were 45, X, -Y, -22, +der(Y)t(Y;22)(q11.2;q11.2) and 46, XY, del(Y)(q11.2) respectively. In 12 sequence-tagged sites(STS) of AZFa, AZFb, AZFd, AZFc, only one was detected in the first case and two were detected in the other case.</p><p><b>CONCLUSION</b>The cytogenetic analysis and the detection of AZF microdeletion on Y chromosome are essential to the final genetic diagnosis to be made for male infertility patients.</p>