Y chromosome microdeletions are an important cause of male infertility. At present, research on the Y chromosome is mainly focused on analyzing the loss of large segments of the azoospermia factor a/b/c (AZFa/b/c) gene, and few studies have reported the impact of unit point deletion in the AZF band on fertility. This study analyzed the effect of sperm quality after sY1192 loss in 116 patients. The sY1192-independent deletion accounted for 41.4% (48/116). Eight patterns were found in the deletions associated with sY1192. The rate of sperm detection was similar in the semen of patients with the independent sY1192 deletion and the combined sY1192 deletions (52.1% vs 50.0%). The patients with only sY1192 gene loss had a higher probability of sperm detection than the patients whose sY1192 gene locus existed, but other gene loci were lost (52.1% vs 32.0%). The hormone levels were similar in patients with sY1192 deletion alone and in those with sY1192 deletion and other types of microdeletions in the presence of the sY1192 locus. After multiple intracytoplasmic sperm injection (ICSI) attempts, the pregnancy rate of spouses of men with sY1192-independent deletions was similar to that of other types of microdeletions, but the fertilization and cleavage rates were higher. We observed that eight deletion patterns were observed for sY1192 microdeletions of AZFb/c, dominated by the independent deletion of sY1192. After ICSI, the fertilization rate and cleavage rate of the sY1192-independent microdeletion were higher than those of other Y chromosome microdeletion types, but there was no significant difference in pregnancy outcomes.
Humans ; Female ; Pregnancy ; Male ; Chromosomes, Human, Y/genetics* ; Adult ; Chromosome Deletion ; Pregnancy Outcome/genetics* ; Infertility, Male/genetics* ; Spermatozoa/physiology* ; Semen Analysis ; Sex Chromosome Disorders of Sex Development/genetics* ; Sperm Injections, Intracytoplasmic ; Azoospermia/genetics* ; Sex Chromosome Aberrations

Objective: To investigate the causative factors of renal function in newly diagnosed multiple myeloma (MM) patients with renal inadequacy. Methods: 181 MM patients with renal impairment from August 2007 to October 2021 at Peking Union Medical College Hospital were recruited, whose baseline chronic kidney disease (CKD) stage was 3-5. Statistical analysis was performed based on laboratory tests, treatment regimens, hematological responses, and survival among various renal function efficacy groups. A logistic regression model was employed in multivariate analysis. Results: A total of 181 patients were recruited, and 277 patients with CKD stages 1-2 were chosen as controls. The majority choose the BCD and VRD regimens. The progression-free survival (PFS) (14.0 months vs 24.8 months, P<0.001) and overall survival (OS) (49.2 months vs 79.7 months, P<0.001) of patients with renal impairment was considerably shorter. Hypercalcemia (P=0.013, OR=5.654) , 1q21 amplification (P=0.018, OR=2.876) , and hematological response over a partial response (P=0.001, OR=4.999) were independent predictive factors for renal function response. After treatment, those with improvement in renal function had a longer PFS than those without (15.6 months vs 10.2 months, P=0.074) , but there was no disparity in OS (56.5 months vs 47.3 months, P=0.665) . Conclusion: Hypercalcemia, 1q21 amplification, and hematologic response were independent predictors of the response of renal function in NDMM patients with renal impairment. MM patients with CKD 3-5 at baseline still have worse survival. Improvement in renal function after treatment is attributed to the improvement in PFS.
Humans ; Multiple Myeloma/drug therapy* ; Bortezomib/therapeutic use* ; Hypercalcemia ; Prognosis ; Chromosome Aberrations ; Kidney/physiology* ; Renal Insufficiency, Chronic ; Retrospective Studies ; Antineoplastic Combined Chemotherapy Protocols

Adult ; Chromatids/genetics* ; Chromosome Aberrations ; Humans ; Infertility, Male/genetics* ; Male ; Meiosis ; Metaphase/genetics* ; Spermatocytes/physiology*

1-Alkyl-2-acetylglycerophosphocholine Esterase ; genetics ; Chromosome Aberrations ; Humans ; Infant ; Infant, Newborn ; Ion Channels ; physiology ; Melanocyte-Stimulating Hormones ; genetics ; Microtubule-Associated Proteins ; genetics ; Mutation ; Neurons ; physiology ; Neuropeptides ; genetics ; Spasms, Infantile ; etiology ; genetics ; Tumor Suppressor Proteins ; genetics

OBJECTIVETo develop chromosome abnormal karyotype quality control cell and to explore the external quality assessment (EQA) method for chromosome karyotype analysis.

METHODSThe chromosome abnormal karyotype quality control cells were prepared by EB virus (EBV) transfection of human B lymphocyte strain establishment and were distributed to participating labs for EQA test of chromosome karyotype analysis project at appointed time. The evaluation results were obtained through 4 grades scoring.

RESULTSSix kinds of chromosome abnormal karyotype quality control cells were initially developed, the karyotypes of which were 46,X, t(Y;5)(q12;q21), 46, XY, 15p +, 46, XX, t(13;18)(q12;q21), 46, X, r(Xp), 46,X,t(Y;Y), 46,XX,t(9;20)(p13;p13) respectively. In the external quality assessment, feedbacks from the participating labs on the sequencing results of the six kinds of quality control cells showed that the wholly overlapping rate were 82.1%, 92.0%, 84.6%, 80.8%, 86.2%, 74.1% and the wholly deviation rate were 10.7%, 8.0%, 11.5%, 19.2%, 13.8%, 18.5%. The overall wholly overlapping rate, partial overlapping rate, partial deviation rate and wholly deviation rate turned out to be 83.2%, 0.6%, 2.5% and 13.7% respectively.

CONCLUSIONThe misdiagnose rate of chromosome karyotype analysis is rather high and regular external quality assessment is necessary to achieve dynamic information and improve diagnosis quality.

B-Lymphocytes ; virology ; Cell Line ; Chromosome Aberrations ; Chromosome Painting ; Herpesvirus 4, Human ; physiology ; Humans ; Karyotyping ; methods ; Lymphocytes ; virology

The aim of present study was to establish normative data for the distribution of nuchal translucency (NT) thickness in normal Korean fetuses. The data were collected from pregnant women with singleton pregnancies in whom fetal ultrasound was performed and the fetal NT thickness was measured between 11 and 14 weeks of gestation. Among them, a total of 2,577 fetuses with a known normal outcome were included in this study. The distribution of multiple of median (MoM) values of the NT thickness with crown-rump length (CRL) in 10-mm intervals and the 95th percentile of MoM were calculated with the linear regression method. The present study showed that NT measurements increase with increasing CRL and a false positive rate increases with increasing gestational age. Therefore, a fixed cut-off point through the first trimester was not appropriate and each NT measurement should be examined according to the gestational age. The present study offers normative data of the fetal NT thickness in a Korean population, which can be used as reference for screening chromosomal aberrations or other congenital abnormalities in the first trimester.
Adult ; Chromosome Aberrations ; Crown-Rump Length ; Female ; Fetus/*physiology ; *Gestational Age ; Human ; Korea ; Linear Models ; Pregnancy ; Pregnancy Trimester, First ; Pregnancy Trimester, Second ; Ultrasonics ; Ultrasonography, Prenatal

Mutagenicity of CORAGRAF (natural coral) and REKAGRAF (hydroxyapatite) was tested in Ames test with and without an external metabolic activation system (S9). The test revealed no mutagenic activity of both locally produced osseous substitutes.
Base Pair Mismatch/drug effects ; Biotransformation/physiology ; Bone Substitutes/*toxicity ; Calcium Carbonate/*toxicity ; Chromosome Aberrations ; Escherichia coli/genetics ; Hydroxyapatites/*toxicity ; *Materials Testing ; *Mutagenicity Tests ; Salmonella typhimurium/genetics

Effects of gamma irradiation on the worm survival and chromosomal aberration of Clonorchis sinensis were studied. The metacercariae irradiated with various amounts of gamma radiation (ranging from 5 Gy to 50 Gy) were fed to rats, and the effects were compared with those of non-irradiated controls. Recovery rates of adult worms in irradiated groups were reduced gradually as increasing of the irradiation doses. No worm was recovered from rats which were fed with 50 Gy irradiated metacercariae. The chromosome number was 2n = 56 in all worms from all experimental groups. However, the groups irradiated with 20 Gy, 25 Gy or 30 Gy showed variations in the chromosome number, depending on different cells in the same individual. Radiation doses used in this study did not appear to induce chromosome aberrations, however, irradiation with 30 Gy showed slightly reduced chromosome size.
Animals ; Chromosome Aberrations/*radiation effects ; Clonorchis sinensis/*genetics/physiology/*radiation effects ; Dose-Response Relationship, Radiation ; Gamma Rays/*adverse effects ; Rats

Alu Elements ; physiology ; Chromosome Aberrations ; DNA Topoisomerases, Type II ; metabolism ; DNA, Neoplasm ; metabolism ; DNA-Binding Proteins ; genetics ; metabolism ; Humans ; Sarcoma ; genetics ; metabolism ; Soft Tissue Neoplasms ; genetics ; metabolism ; Translocation, Genetic

A clinicostatistical analysis of 683 males with infertility who visited the Pusan National University Hospital between January 1986 and December 1995 was performed. We divided the patients into 5 groups by Shirataki classification as follows, group I, sperm concentration above 20 x 106/ml, group II, oligozoospermia with a sperm concentration above 10 x 100000/ml, but below 20 x 1000000/ml, group III,oligozoospermia with a sperm concentration below 10x 100000/ml, group IV, primary azoospermia, group V, obstructive azoospermia. The mean age was 33.1 years. The mean duration of infertility was 48.2 months. The frequency in each groups were group IV 383 cases (56.1%), group III 127 cases (18.6%), group I 111 cases (16.3%), group II 37 cases (5.4%), and group V 25 cases (3.7%), respectively. Except group V, as decreasing the sperm density, testicular volume tended to reduce (p<0.01). The semen volume in group V was significantly less than that in other groups (p<0.05). As sperm density decreased, the sperm motility tended to reduce (p<0.05). The levels of serum luteinizing hormone (LH) and follicular stimulating hormone (FSH) in group IV were significantly the higher than other groups (p<0.05). As for serum prolactin and testosterone, there were no significant differences between each 5 group. Of etiologic factors of male infertility, idiopathic was the most common cause with 489 cases (71. 6%), and followed by varicocele 71 cases (10.4%), seminal tract obstruction 44 cases (6.4%), chromosome abnormality 30 cases (4.4%), infection 20 cases (2.9%), testicular trauma 13 cases (1.9%), cryptorchidism 10 cases (1.5%), hyperprolactinemia 4 cases (0.6%) and retrograde ejaculation 2 cases (0.3%). A total of 391 cases had a management for male infertility which consisted of medical treatments 291 cases (74.4%), surgical treatments 89 cases (22.8%) and assisted reproductive technologies 11 cases (2.8%). In conclusion, We think the more clear clarification of physiology of male reproductive system, the development of new drugs for the improvement of spermatogenesis and the application of advanced assisted reproductive technique would be needed to handle properly the patients with male infertility.
Azoospermia ; Busan ; Chromosome Aberrations ; Classification ; Cryptorchidism ; Ejaculation ; Humans ; Hyperprolactinemia ; Infertility ; Infertility, Male* ; Luteinizing Hormone ; Male ; Male* ; Oligospermia ; Physiology ; Prolactin ; Reproductive Techniques, Assisted ; Semen ; Sperm Motility ; Spermatogenesis ; Spermatozoa ; Testosterone ; Varicocele