ART do not increase the risk of Y-chromosome microdeletion in 19 candidate genes at AZF regions

2014 ◽  
Vol 26 (6) ◽  
pp. 778 ◽  
Author(s):  
Xiao-Hong Liu ◽  
Li-Ying Yan ◽  
Cui-Ling Lu ◽  
Rong Li ◽  
Xiao-Hui Zhu ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Y Chromosome ◽  
De Novo ◽  
Statistical Significance ◽  
Chinese Han ◽  
Azoospermia Factor ◽  
Y Chromosome Microdeletion ◽  
Han Ethnicity ◽  
Significant Difference ◽  
Natural Conception

Y-chromosome microdeletions (YCMs) have been found at a much higher rate in infertile men than fertile controls. A specific deletion in the azoospermia factor locus (AZF) at Yq11 is significantly associated with male infertility. Whether assisted reproductive technology (ART) increases the risk of YCM in ART-derived offspring remains unclear. In this study the occurrence of YCM in 199 fathers and their 228 sons (Chinese, Han ethnicity), including 85 offspring conceived by IVF, 73 by intra-cytoplasmic sperm injection (ICSI) and 70 by natural conception, was investigated. Nineteen candidate genes related to YCM were analysed by multiplex ligation-dependent probe amplification. We identified one de novo YCM from 70 naturally-conceived offspring and none from 158 ART-conceived offspring and found no statistical significance between these two groups. There was no statistically-significant difference in the detection rate of the father’s Y-chromosome microdeletion group: IVF 10.7% (8/75), ICSI 3.2% (2/63), natural conception 8.2% (5/61). These results suggest that ART does not increase the risk of YCM in male offspring.

scholarly journals Establishment of the reference interval for serum pro-gastrin-releasing peptide in healthy adults of Chinese Han ethnicity

2018 ◽  
Vol 33 (4) ◽  
pp. 487-491 ◽  
Author(s):  
Bing Zhao ◽  
Miaomiao Zhang ◽  
Feng Lin ◽  
Jing Xie ◽  
Yan Liang ◽  
...  
Keyword(s):  
Age Groups ◽  
Reference Interval ◽  
Reference Intervals ◽  
Chinese Han ◽  
Gastrin Releasing Peptide ◽  
Han Ethnicity ◽  
Significant Difference ◽  
Healthy Chinese ◽  
Han Adults ◽  
Non Parametric

Objective: The aim of this study is to establish the reference interval for serum pro-gastrin-releasing peptide (proGRP) determined by electrochemiluminescence immunoassay (ECLIA) in healthy Chinese Han ethnic adults. Methods: After screening, 9932 healthy Chinese Han adults (age range 18–95 years) were enrolled in this study, including 6220 men and 3712 women. Serum proGRP levels were measured by ECLIA. The reference interval was defined by non-parametric 95th percentile interval. Results: Serum proGRP levels conformed to a non-Gussian distribution. The reference interval for healthy Chinese Han adults calculated by the non-parametric method was 0–73.90 ng/mL in this study. Since serum proGRP levels were significantly correlated with age (r=0.226, P<0.001), the participants were divided into six age groups: 18–39, 40–49, 50–59, 60–69, 70–79, and ⩾80 years. No significant difference for serum proGRP levels was found between the sexes at each of six age groups. The reference intervals were gradually increased with age (65.35 ng/mL, 68.65 ng/mL, 74.10 ng/mL, 77.65 ng/mL, 84.57 ng/mL, and 98.03 ng/mL in 18–39, 40–49, 50–59, 60–69, 70–79, and ⩾80 years, respectively). Conclusions: We established the reference interval for serum proGRP, which was determined by ECLIA in the healthy Chinese Han population. Furthermore, our study suggests that it is necessary to establish the age-specific reference intervals for serum proGRP.

The IC50 Assay Is Predictive of Molecular Response, and Indicative of Optimal Dose in De-Novo CML Patients.

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 1109-1109
Author(s):  
Deborah L White ◽  
Verity A Saunders ◽  
Thea Kalebic ◽  
Timothy P Hughes
Keyword(s):  
De Novo ◽  
Statistical Significance ◽  
Continuous Variable ◽  
Rank Test ◽  
P Value ◽  
Molecular Response ◽  
Optimization Strategy ◽  
Log Reduction ◽  
Significant Difference ◽  
The Impact

Abstract We have previously demonstrated significant interpatient variability in the IC50imatinib, a measure of the intrinsic sensitivity of a patient to imatinib induced kinase inhibition. Furthermore, this measure is predictive of the achievement of major molecular response (MMR &gt; 3 log reduction in BCR-ABL) in de-novo CML patients treated with imatinib (n=60)1. In an expanded patient pool (n=116) we now perform an evaluation of the IC50 as a predictor of response, and address the IC50imatinib as a guide to dose selection. Samples were obtained with informed consent from de novo CML patients enrolled to either the TIDEL (600mg imatinib) or TOPS (randomised 400mg vs 800mg imatinib) trials. Blood was collected pre therapy, and the IC50 was performed as previously1. Outcome data was assessed using Kaplan Meier Analysis and the log rank test was used to assess statistical significance. In our previous analysis the IC50imatinib was divided about the median value for the cohort (0.6μM) into low and high IC50, with a significantly greater proportion of patients with low IC50imatinib achieving MMR by 12 months. In this expanded patient pool, we confirm this finding (&lt;median of 0.7μM for this patient group) (low IC50 65% of patients achieve MMR by 12 mo vs high IC50 39% of patients p=0.014) Dividing the IC50’s into quartiles we now demonstrate that the IC50imatinib is a continuous variable with a greater proportion of patients in the lower quartile achieving MMR than those in the higher (Table 1 Total). Addressing the issue of dose we demonstrate that no patients with IC50&gt;0.95uM achieve MMR on 400mg, and that this is statistically significantly when compared to all other groups. At 600mg while there is no overall significant difference there is a statistically relevant difference between groups 1, 2 and 4 as indicated. In contrast, at 800 mg the effect of IC50imatinib is overcome. MMR by 12 months Total 400mg 600mg 800mg p value Group1 &lt;0.5μM 67% (27) 83% (12)* 50% (8)* 86% (7) 0.470 Group 2 &gt;0.5&lt;0.7μM 63% (30) 67% (6)* 53% (17)* 71% (7) 0.337 Group 3 &gt;0.7&lt;0.95μM 45% (31) 40%(5)* 30% (10) 56% (16) 0.139 Group 4&gt;0.95μM 32% (28) 0% (7)* 22% (9)* 58% (12) 0.016 P value 0.042 0.018 0.108 0.778 Table 1: Dividing the patients into quartile based on the IC50 imatinib and assessing the Impact of dose on the achievement of MMR by 12 month. *p value &lt;0.05 between groups (n). The failure to achieve a Complete Cytogenetic Response by 12 months is considered a suboptimal response. Assessing the molecular equivalent (≥2 log reduction in BCR-ABL) we demonstrate that a significantly greater proportion of patients with IC50imatinib&gt;0.7μM fail to achieve a 2 log reduction when treated with 400mg (IC50 &lt;0.7μM 11%: &gt;0.7μM 33% p=0.034), and 600mg (IC50 &lt;0.7μM 12%: &gt;0.7μM 22% p=0.036). However, there is no significant difference in the 800mg patient cohort (IC50 &lt;0.7μM 7%: &gt;0.7μM 14% p=0.79). This analysis confirms that the IC50imatinib, is predictive of imatinib response. Patients with an IC50imatinib &lt;0.7μM are likely to respond well to doses of 400mg imatinib, as suggested by evaluation of statistically relevant outcome benefit. In contrast patients with higher IC50imatinib (&gt;0.7μM) may benefit from higher dosing regimens (p=0.012). Thus, the accurate assessment of IC50imatinib could support dose optimization strategy for patients with a suboptimal response.

The azoospermia factor (AZF) of the human Y chromosome in Yq11: function and analysis in spermatogenesis

1995 ◽  
Vol 7 (4) ◽  
pp. 685 ◽  
Author(s):  
PH Vogt ◽  
A Edelmann ◽  
P Hirschmann ◽  
MR Kohler
Keyword(s):  
Y Chromosome ◽  
Chromatin Structure ◽  
De Novo ◽  
Screening Programme ◽  
Deletion Mapping ◽  
Azoospermia Factor ◽  
Its Analysis ◽  
Human Y Chromosome

Different Y mutations in Yq11 occurring de novo in sterile males were first described 19 years ago. Since the phenotype of the patients was always associated with azoospermia or severe oligospermia, it was postulated that these mutations interrupt a Y spermatogenesis locus in the euchromatic Y region (Yq11) called azoospermia factor (AZF). Recently, it became possible to map AZF mutations to different subregions in Yq11 by molecular deletion mapping. This indicated that azoospermia is possibly caused by more than one Y gene in Yq11 and the Yq11 chromatin structure. The frequency of AZF mutations in idiopathic sterile males (5-20%) may indicate a need for a general screening programme for its analysis in infertility clinics.

scholarly journals Expansion and De Novo Occurrence of Y Chromosome Microdeletions Occurring via Natural Vertical Transmission in Northeastern China

2012 ◽  
Vol 40 (3) ◽  
pp. 1182-1191 ◽  
Author(s):  
R-L Dai ◽  
L-K Sun ◽  
X Yang ◽  
L-L Li ◽  
H-B Zhu ◽  
...  
Keyword(s):  
Y Chromosome ◽  
De Novo ◽  
Reproductive Hormones ◽  
Northeastern China ◽  
Enzyme Linked Immunosorbent Assay ◽  
Azoospermia Factor ◽  
Y Chromosome Microdeletions ◽  
Polymerase Chain ◽  
Primary Male ◽  
Negative Controls

OBJECTIVE: To determine characteristics of classical and partial deletions of the Y chromosome azoospermia factor (AZF) region transmitted from father to son by natural fertilization. METHODS: Patients from northeastern China with primary male infertility ( n = 10) and their fathers were investigated. Healthy fertile men and women were recruited as positive and negative controls, respectively. The Y chromosome microdeletions were detected by polymerase chain reaction. Serum concentrations of reproductive hormones were determined by electrochemiluminescence immunoassay and enzyme-linked immunosorbent assay. RESULTS: Expansions of microdeletions were observed in seven father-son pairs; de novo microdeletions were found in the remaining three father-son pairs. The Y chromosome microdeletions were larger in sons than in their fathers. Patients with infertility had significantly higher levels of follicle stimulating hormone and lower levels of inhibin B than fertile men. CONCLUSIONS: The Y chromosome micro deletions were transmitted from father to son via natural transmission. These microdeletions may expand during transmission or arise de novo, possibly resulting in reduced fertility.

Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chinese population

2008 ◽  
Vol 109 (6) ◽  
pp. 1060-1064 ◽  
Author(s):  
Yufang Zhu ◽  
Weiju Li ◽  
Mingxu Ge ◽  
Shangchen Xu ◽  
Guangyu Zhao ◽  
...  
Keyword(s):  
Intracranial Aneurysms ◽  
Restriction Analysis ◽  
Chinese Patients ◽  
Control Group ◽  
Genotype Distribution ◽  
Chinese Han ◽  
Chi Square ◽  
Han Ethnicity ◽  
Significant Difference ◽  
Chi Square Test

Object The COL1A2 gene at 7q22.1 has been shown to be associated with familial intracranial aneurysms (IAs) in the Japanese population. In the present study, the authors investigated the correlation between the presence of the rs42524 polymorphism in COL1A2 and the occurrence of sporadic IAs in Chinese patients. Methods The polymorphism rs42524 of the COL1A2 gene was identified by polymerase chain reaction–based restriction analysis in genomic DNA from 226 patients with sporadic IAs (mean age 51.49 ± 11.47 years) and 326 control participants (mean age 52.33 ± 10.50 years). Neurological assessments were performed using the Hunt and Hess grading system, and differences in allelic and genotypic frequencies between the patient and control groups were evaluated with the chi-square test. Results There was a significant difference in either the genotype distribution (χ2 = 11.99, p = 0.002) or allelic frequencies (χ2 = 11.96, p = 0.001, odds ratio 2.579, 95% confidence interval 1.486–4.476) between patients with IAs and patients in the control group. Conclusions The rs42524 polymorphism of COL1A2 could be a genetic risk factor for sporadic IAs among individuals of Chinese Han ethnicity. This study is the first to confirm the association between COL1A2 and IAs.

scholarly journals Analysis of Y Chromosome Microdeletion and Karyotype in 516 Patients With Azoospermia

2020 ◽  
Author(s):  
Lihua Wu ◽  
Jingjing Hu ◽  
Yiqun He ◽  
Yicong Zhang ◽  
Kailing Liang ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Chromosome Abnormality ◽  
Karyotype Analysis ◽  
Detection Methods ◽  
Azoospermia Factor ◽  
Y Chromosome Microdeletion ◽  
Abnormal Rate ◽  
Polymerase Chain ◽  
Conventional Cytogenetics ◽  
Fluorescent Polymerase Chain Reaction

Abstract Background: To investigate the correlation between Y chromosome microdeletion and cytogenetic analysis in patients with azoospermia.Methods: A total of 516 patients with azoospermia were enrolled from March 2015 to December 2019. Karyotype analysis(G-banding) was performed with peripheral blood.Y-chromosome azoospermia factor (AZF) were detected by quantitative fluorescent polymerase chain reaction (QF-PCR).Results: Chromosome abnormality was detected in 66 of the 516 azoospermia patients, with an abnormal rate of 12.8% In addition, 7.8% cases(40/516) presented with Y-chromosome AZF microdeletions, in which 27 cases patients with karyotype of 46,XY(67.5%,27/40) and 13 cases of chromosome abnormalities (32.5%,13/40).Conclusion: The incidence of Y chromosome microdeletion was higher in the patients with karyotype of 46,XY. Conventional cytogenetics cannot directly reflect the microdeletions of Y chromosome. Therefore, the combination of this two detection methods can help to clarify the genetic causes of patients with azoospermia and provide a theoretical basis for clinical assisted reproductive technology.

Comparative study of Clinical Characteristics in Patients with Mild and Severe Reflux Esophagitis

2020 ◽  
Vol 66 (1) ◽  
pp. 19-22
Author(s):  
Melania Macarie ◽  
Simona Maria Bataga ◽  
Monica Pantea ◽  
Razvan Opaschi ◽  
Simona Mocan ◽  
...  
Keyword(s):  
Risk Factors ◽  
Sex Ratio ◽  
Hiatal Hernia ◽  
Statistical Significance ◽  
Erosive Esophagitis ◽  
Male Gender ◽  
Consecutive Series ◽  
Study Group ◽  
Entire Study ◽  
Significant Difference

AbstractObjective: This study aims to determine the correlation between risk factors and erosive esophagitis development.Methods: We conducted a retrospective observational study on a consecutive series of 19.672 patients who underwent upper gastrointestinal endoscopy between 01.01.2011-31.12.2017. A total of 3005 patients, diagnosed with erosive esophagitis, were included in the present study and stratified according to Los Angeles classification.Results: During the studied period we found 3005 patients with erosive esophagitis, sex ratio male to female was 1.3/1, the most common forms of esophagitis being grade A and B: 74.54% patients with esophagitis grade A, 14.80% patients with grade B; 5.29% patients were with grade C and 5.35% patients with esophagitis grade D. In severe esophagitis the male predominance was more prevalent (249 males, 71 female), with a sex ratio 3.50/1. The correlation of male gender with severe esophagitis was highly statistically significant (p < 0.0001, OR 2.97; 95% CI 2.25-3.91). Hiatal hernia was diagnosed in 1171 patients, the presence of large hiatal hernias, being an important predictor, with statistical significance (p < 0.0001, OR 3.41; 95% CI 2.22-5.21), for severe esophagitis development. Incidence of Helicobacter pylori infection was 11.51%, in the entire study group, with no statistical significant difference between patients with mild or severe esophagitis (12.02% vs 7.18%).Conclusion: Erosive esophagitis is a frequent disease, the most common forms being grade A and B. Male gender and the presence of hiatal hernia are the most important risk factors for erosive esophagitis development, in our study group.

Criteria positive and criteria negative anaphylaxis, with a focus on undifferentiated somatoform idiopathic anaphylaxis: A review and case series

2020 ◽  
Vol 41 (6) ◽  
pp. 436-441 ◽  
Author(s):  
Daniel A. Rosloff ◽  
Kunal Patel ◽  
Paul J. Feustel ◽  
Jocelyn Celestin
Keyword(s):  
Diagnostic Criteria ◽  
Statistical Significance ◽  
Case Series ◽  
Poor Response ◽  
Response To Treatment ◽  
Fisher Exact Test ◽  
Subjective Symptoms ◽  
Significant Difference ◽  
Physical Findings ◽  
Idiopathic Anaphylaxis

Background: Undifferentiated somatoform (US) idiopathic anaphylaxis (IA) is considered a psychogenic disorder characterized by a lack of observable physical findings and poor response to treatment. Although failure to diagnose true anaphylaxis can have disastrous consequences, identification of US-IA is crucial to limit unnecessary expenses and use of health care resources. Objective: To better define the presentation and understand the potential relationship between US-IA and underlying psychiatric comorbidities. Methods: We retrospectively reviewed 110 visits by 107 patients to our institution for evaluation and management of anaphylaxis over a 1-year period. The patients were classified as having either criteria positive (CP) or criteria negative (CN) anaphylaxis based on whether they met Second National Institute of Allergy and Infectious Disease/Food Allergy and Anaphylaxis Network Symposium criteria for the clinical diagnosis of anaphylaxis. Patient characteristics, including objective and subjective signs and symptoms, and the presence of psychiatric diagnoses were collected and analyzed. Statistical significance was assessed by using the Fisher exact test. A literature review of US-IA and other psychogenic forms of anaphylaxis was performed. Results: Patients with CP anaphylaxis were more likely to present with hypotension, wheezing, urticaria, and vomiting than were patients with CN anaphylaxis. The patients with CN anaphylaxis were more likely to present with subjective symptoms of sensory throat tightness or swelling compared with patients with CP anaphylaxis. No significant difference was detected in the prevalence of psychiatric conditions between the two groups. Conclusion: Patients who met previously established diagnostic criteria for anaphylaxis were more likely to present with objective physical findings than those who did not meet criteria for true anaphylaxis. CN patients who presented for treatment of anaphylaxis were more likely to present with subjective symptoms. Formal diagnostic criteria should be used by clinicians when evaluating patients with suspected anaphylaxis.

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