Clinical and genetic analysis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome due to a novel frameshift variant of DYM gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of a Chinese pedigree affected with Dyggve-Melchior-Clausen syndrome.@*METHODS@#Whole exome sequencing and Sanger sequencing were carried out to detect potential pathogenic variants associated with the syndrome. The function of candidate variant was verified by Western blotting.@*RESULTS@#A novel homozygous variant, c.1222delG of the DYM gene was detected in the two affected siblings, for which both parents were heterozygous carriers. The variant has caused replacement of Asp by Met at amino acid 408 and generate a premature stop codon p.Asp408Metfs*10. Western blotting confirmed that the variant can result in degradation of the mutant DYM protein, suggesting that it is a loss of function variant.@*CONCLUSION@#The homozygous c.1222delG frameshift variant of the DYM probably underlay the Dyggve-Melchior-Clausen syndrome in the two affected siblings. Above findings has enabled clinical diagnosis and genetic counseling for the family.

Comparison of three different flow cytometers in the clinical assessment of lymphocyte subsets / 中华检验医学杂志

Objective To evaluate the consistency and accuracy among 3 brands of flow cytometers (BriCyte E6,BD FACSCanto Ⅱ and Beckman Coulter FC 500) in the detection of lymphocyte subsets.Methods According to the methodology,the BriCyte E6 was compared with 2 flow cytometers commonly used in clinical detection.Seventy-three cases (40 male and 33 female) of anticoagulation peripheral blood specimens were collected in the clinical laborartory department of Xinhua Hospital in July 2015 and the percentage (％) and absolute number (#) of the lymphocyte subsets were detected by 3 different flow cytometers within samples collected 4 h.Results There were good consistency among the 3 flow cytometers (R2 ＞0.95,R2 from 0.969 5 to 0.992 4) in the detection of lymphocyte subsets percentage,so did in the detection of absolute number (R2 ＞ 0.95,R2 from 0.969 1 to 0.993 3).As to the precision evaluation,in the detectionof CD8％,T#,CD4+ T# and CD8+ T#,BriCyte E6 achieved a low CV％ compared with FACSCanto Ⅱ and FC 500 (Friedman statistics are 16.720,11.840,15.760 and 15.430,P =0.000 2,0.027,0.000 4,0.000 4,respectively).In the detection of T％,CD4％,NK％,B％,NK#,B#,there was no significant difference among the 3 flow cytometers (Friedman statistics are 4.242,3.916,0.852,2.595,1.835 and 0.578,P =0.119 9,0.141 2,0.653 2,0.273 3,0.399 6,0.749 0,respectively).Conclusions The 3 flow cytometers have a good consistency in the detection of lymphocyte subsets.BriCyte E6 may be an alternative or complement of existing flow cytometers.

Sperm DNA fragmentation index and the success rate of IVF/ICSI / 中华男科学杂志

Sperm DNA fragmentation index (DFI) refers to the percentage of DNA strand breaks in the total sperm. Many studies suggest that elevated DFI can lead to male infertility and early spontaneous abortion. High-DFI patients are more likely to fail in assisted reproduction and preliminary treatment or prevention methods have been developed for this population. This review focuses on the impact of DFI on clinical pregnancy outcomes and progress in the studies of its treatment.

Organic erectile dysfunction and metabolic syndrome in young and middle-aged men: analysis of 154 cases / 中华男科学杂志

<p><b>OBJECTIVE</b>To investigate the association of erectile dysfunction (ED) with metabolic syndrome ( MS) and the total testosterone ( tT) level in young and middle-aged men.</p><p><b>METHODS</b>This study included 154 organic ED outpatients aged 20 -59 years and 103 age-matched men with normal sexual life. We obtained their waist circumference ( WC) , blood pressure ( BP) , fasting blood glucose ( FBG) , triglyceride ( TG) , high density lipoprotein ( HDL) , tT, IIEF -5 score, erectile function indexes and other relevant variables, and compared them between the ED and non-ED groups as well as between the ED patients with MS and those without MS.</p><p><b>RESULTS</b>The prevalence of MS was significantly higher in the ED patients than in the non-ED males ( 40. 9 vs 17.4%, P < 0. 01). Statistically significant differences were found between the ED and non-ED groups in WC ( [90. 80 ±4. 90] vs [87. 70 ±4. 60] em, P <0.01), SBP ([134.40±14.40] vs [129.90±12.40] mmHg, P<O.OS), DBP ([86.20±7.80] vs [83.60±8.60] mmHg, P <0.05), FBG ( [5.48 ±1.02] vs [5. 11 ±0. 91] mmol, P <0. 01), HDL ( [ 1.12 ±0. 27] vs [ 1. 26 ±0. 29] mmol, P < 0. 01) , and tT ( [ 15. 98 ± 6. 55] vs [ 17. 95 ± 7. 39] mmol, P < 0. 05) , as well as between the ED patients with MS and those without MS in such erectile function indexes as tT ( [ 14.49 ±6. 23] vs [ 17.01 ±6. 60] mmol, P <0. 05), erectile penile circumference ( [9. 67 ± 1.09] vs [10.16 ± 1.01] cm, P <0. 01), erectile penile length ( [ 10.40 ± 1. 20] vs [ 10.79 ± 1. 07] cm, P <0. 05), glans temperature ( [ 31. 33 ± 0. 65] vs [ 31. 80 ± 0. 82] °C , P < 0. 01) , and mean axial hardness of the penis ( [ 332. 60 ± 137. 90] vs [ 419. 20 ± 145. 80] g, P < 0. 01 ) . WC was significantly correlated with the incidence of ED ( P < 0. 01 ) .</p><p><b>CONCLUSION</b>The prevalence of MS is significantly higher in young and middle-aged ED patients than in normal males, and MS is associated with a lower testosterone level and poorer erectile performance. Central obesity is closely correlated with ED in young and middle-aged men.</p>