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A family with nanophthalmos was genetically investigated. The proband of this family was a 34-year-old male, who was diagnosed as binocular glaucoma two years ago and was admitted to Beijing Tongren Eye Center due to impaired vision in his right eye for 2 months. The intraocular pressure was controlled with two anti-glaucoma medications, the range of the angle closure was300 degrees, and the cup-disk ratio was significantly increased in both eyes. The axial length of the right and left eyes was 17.45 mm and 17.36 mm, respectively. A heterozygous missense variant of the TMEM98 gene was detected by gene sequencing (C. 602GC, P.R201p). Both eyes were diagnosed with nanophthalmos and secondary angle-closure glaucoma. The father of the proband was found to carry a homozygous variant in the same gene, while the daughter of the proband carried the same heterozygous variant as the proband. Both of them were diagnosed as binocular nanophthalmos in combination with clinical manifestations.先证者为34岁右眼视力下降2个月男性患者，双眼青光眼2年，双眼眼压在正常范围（使用2种抗青光眼药物），双眼房角关闭范围300°，双眼视杯视盘直径比明显增大，眼轴长度右眼为17.45 mm，左眼为17.36 mm，基因测序检出TMEM98基因杂合错义突变（c.602GC，p.R201P），诊断为双眼真性小眼球和双眼继发性闭角型青光眼。家系中发现先证者父亲携带相同基因纯合错义突变，先证者女儿携带与先证者相同基因杂合错义突变，综合临床表现均诊断为双眼真性小眼球。.

Dynamic monitoring of CTCs/CSCs can assist in the diagnosis and prognosis of tumors. This study explores the diagnostic significance of microfluidic chip technology in the detection of CTCs/CSCs in clinical staging and metastasis of patients with non-small cell lung cancer (NSCLC). That lays a solid foundation for the use of microfluidic chips to monitor CTCs/CSCs for the stage and metastasis of patients with non-small cell lung cancer.This study collected 80 patients with lung cancer from October 2017 to October 2018. Meanwhile, 30 healthy people and 30 patients with benign lung diseases were selected during the same period as the control group 1 and the control group 2, respectively. CellSearch (Huntington Valley, PA, USA) and microfluidic chip were used to detect CTCs, the sensitivities were recorded. ELISA methods were used to detect the concentrations of tumor markers VEGF-C, CEA, and CA125 in serum, and their association with CTCs and CSCs was analyzed. In addition, after 3 months, we followed up 40 patients with lung cancer, recorded their prognosis, and extracted peripheral blood to detect changes in their CTCs and CSCs. The CellSearch (Huntington Valley, PA, USA) system and the microfluidic chip system were used to detect the CTCs in patients with lung cancer, and the sensitivity and specificity of the patients were analyzed. The changes in CTCs and CSCs in the peripheral blood of the patient were recorded.It can be seen that the positive rate of CTCs and CSCs is not significantly correlated with the patients' age, gender, pathological type (adenocarcinoma, squamous cell carcinoma), etc. They are significantly correlated with clinical stage (I + II and III + IV) and metastasis (metastasis and non-metastasis) (p0.01). Then, we divided the patients into groups for testing, and analyzed the association between different groups of patients and CTCs and CSCs. Compared with control group 1 and control group 2, the positive rates of CTCs and CSCs in lung cancer metastasis group and non-metastasis group were significantly different (p0.05). Compared with the control group 1 and control group 2, the positive rates of CTCs and CSCs in stage I + II and III + IV of lung cancer were significantly different (p0.05). The positive rate was significantly higher in the cancer metastasis group (p0.05). The concentrations of tumor markers VEGF-C, CEA, CA125 in the serum of patients were consistent with CTCs-negative and CTC-positive lung cancer, with significant differences (p0.05). CSCs negative and CSCs positive patients have similar results. Subsequently, we analyzed the sensitivity and specificity of CSCs, CTCs, and tumor markers for the diagnosis of NSCLC. The results showed that the sensitivity of CSCs and CTCs to diagnose patients was significantly higher than that of tumor markers.This study shows that our microfluidic chip device can exhibit relatively good performance and can better detect CTCs and CSCs. Monitoring CTCs and CSCs of patients can provide a basis for judging the stage and metastasis of patients.

The prevalence of microdeletions of azoospermia factor (AZF) among azoospermic Klinefelter's syndrome (KFS) patients shows conflicting data. We aimed to detect this frequency in a Northeast Chinese population, and to investigate the possible association between AZF microdeletions and KFS by comparison with previous conflicting reports. Eighty men affected with KFS and a random healthy control group comprising 60 fertile men and women were recruited. AZF microdeletions were detected by multiplex polymerase chain reaction using 9 specific sequence-tagged sites. Karyotype analyses were performed on peripheral blood lymphocytes using standard G-banding. Finally, azoospermia was confirmed in 77 men affected with KFS and no AZF microdeletions were found. Karyotype analysis revealed 1 patient with karyotype 47,XXY,inv (9) (p11, q13), and 2 with mosaic karyotypes (46,XX/47,XXY and 46,XY/47,XXY). All other patients had karyotype 47,XXY. Review of the literature showed that these results were similar to those of other regions of Northeast Asia, but differed from those obtained from Caucasian populations. Our results supported the proposal that AZF microdeletions and KFS result from separate genetic defects. The prevalence of AZF in azoospermic KFS patients varies among populations, and it might result from genetic drift or selective pressure. These results suggest that routine screening for classical AZF microdeletions among infertile azoospermic men with a 47,XXY karyotype might not be necessary in Northeast Chinese individuals. However, it remains imperative for patients considering assisted reproductive treatments, particularly for those with mosaic karyotypes.

Y chromosome abnormalities are frequently associated with male infertility. Men with ring Y chromosomes can present with sexual infantilism, ambiguous genitalia, hypospadias, or azoospermia. AZF microdeletions can result in spermatogenic defects in such patients. Here, we report an unusual karyotype of 45,X/46,X,r(Y)/46,X,dic r(Y) in an azoospermic man. However, the reason for this patient's azoospermia is not an AZF microdeletion but might be the abnormal structure of the r(Y) chromosome, the 45,X cell line, mosaicism of the 3 cell lines, or another unknown cause. In such cases, if the couple wishes to reproduce, cytogenetic, molecular and fluorescent in situ hybridization evaluations should be performed, and preimplantation genetic diagnosis should be used together with assisted reproductive technology.