Identification of PDCL2 as a candidate marker in Sertoli cell-only syndrome by chromatin immunoprecipitation-sequencing and bioinformatics analysis.

Background: Sertoli cell-only syndrome (SCOS) or germ cell aplasia is one of the most serious histopathological subtypes within the scope of non-obstructive azoospermia (NOA). Understanding the molecular mechanism of SCOS and identifying new non-invasive markers for clinical application is crucial to guide proper sperm procurement and avoid unnecessary interventions. This study sought to identify the differentially expressed genes (DEGs) of SCOS by using gene sequencing identity and verify the key marker genes to provide basic data for subsequent research on SCOS. Methods: A total of 50 testicular samples were collected in this study from 25 patients with SCOS and 25 patients with normal spermatogenesis. In total, 5 pairs of testis samples were used for the RNA-sequencing (RNA-seq). We identified the DEGs between the SCOS and normal spermatogenesis patients and conducted a Gene Ontology (GO) analysis and a Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis. The expression of the main target gene phosducin-like 2 (PDCL2) was examined by quantitative real-time polymerase chain reaction (qRT-PCR) and immunohistochemistry (IHC). Results: In total, 3,133 upregulated DEGs and 1,406 downregulated DEGs were identified by the RNA-seq. The highly enriched processes involved in spermatogenesis included the mitotic cell cycle, cell cycle, and oocyte maturation. The expression of PDCL2 was verified as a downregulation marker in SCOS by qRT-PCR and IHC. Conclusions: This study identified the DEGs of SCOS, and the bioinformatics analysis results identified the potential target key genes and pathways for SCOS. PDCL2 is a key gene involved in SCOS and may serve as a non-invasive downregulation marker of SCOS.

Identification of a four-microRNA panel in serum as promising biomarker for colorectal carcinoma detection.

Background: Screening for colorectal carcinoma (CRC) lacks an efficient, inexpensive and noninvasive approach. The stable presence of serum miRNA is expected to become a new diagnostic marker. Materials & methods: Based on 135 CRC patients and 135 normal controls, this study was conducted in three phases to identify suitable serum miRNA for CRC diagnosis by using quantitative reverse transcription PCR. Bioinformatic assays were used for target genes prediction and functional annotation. Results: Serum expression level of seven miRNAs were significantly different between CRC patients and the normal controls. The final diagnostic panel (area under the curve = 0.893; sensitivity = 81.25%, specificity = 73.33%) consists of miR-203a-3p, miR-145-5p, miR-375-3p and miR-200c-3p. Conclusion: The four-miRNA panel may serve as a novel, noninvasive biomarker for CRC diagnosis and screening.

Pure small-cell carcinoma of the prostate presenting with increasing prostate-specific antigen levels: A case report and review of the literature.

The incidence of prostatic cancer (PCa) has increased significantly, and the measurement of prostate-specific antigen (PSA) is an effective screening tool for its diagnosis. PCa includes a number of specific clinicopathological types, including squamous cell, urothelial, adenoid cystic and small-cell carcinoma, among which small-cell carcinoma of the prostate (SCCP) is extremely rare, accounting for <0.5% of all PCa cases. SCCP is very aggressive and the majority of the cases have a poor prognosis, with a mean survival of ~5 months; it also exhibits specific clinicopathological characteristics and may be divided into two subtypes, namely pure and mixed SCCP. According to the previous literature on PubMed, pure SCCP is not associated with an increase in serum PSA levels. However, the rare case presented herein exhibited an increasingly abnormal serum PSA level. The patient was aged 66 years and had a PSA level of 56.78 ng/ml (normal, <4 ng/ml); he was diagnosed with pure SCCP, underwent radical prostatectomy and has remained disease-free during the follow-up. Similar cases previously published on PubMed were also reviewed, and considerations of survival status and treatment options were analyzed.

Xp11.2 translocation renal cell carcinoma with TFE3 gene fusion: A case report.

Xp11.2 translocation renal cell carcinoma (RCC) with transcription factor E3 (TFE3) gene fusion is a rare tumor, and the prognosis of this tumor is poorer compared with that of other subtypes of RCC. The patient presented herein was a 70-year-old man who presented with a solid mass sized ~8.2×6.1 cm in the right kidney and underwent radical right nephrectomy. Following pathological and immunohistochemical (IHC) examination and fluorescent in situ hybridization (FISH), the patient was diagnosed with Xp11.2 translocation RCC with TFE3 gene fusion. These tumors are more commonly encountered in children rather than in adults, and adult Xp11.2 translocation RCC is associated with a poorer prognosis compared with its pediatric counterpart. IHC assay and FISH are important diagnostic methods. However, there is currently no established effective treatment for Xp11.2 RCC.

Primary mesenchymal chondrosarcoma with bilateral kidney invasion and calcification in renal pelvis: A case report and review of the literature.

Mesenchymal chondrosarcoma (MC) is a rare malignant cartilaginous forming tumor. MC of the kidney is extremely rare, with only seven cases reported in the literature. The present study described the case of a 17-year-old male, who presented with sudden severe pain in the right flank and a high fever. Imaging studies demonstrated a large soft heterogeneous mass (7.8×9.5×15 cm) located between the liver and right kidney with no clear demarcation, and a well-demarcated mass (1.3×2.4 cm) with patchy dense calcification occupying the left renal pelvis. Following the diagnosis of a Wilms' tumor, the patient underwent a right radical nephrectomy and the pathological diagnosis was MC of the kidney. To the best of our knowledge, the current study presents the first case of MC with bilateral kidney invasion and calcification in the renal pelvis. In addition, the clinical, radiological and pathological features, and the management of this unusual neoplasm were discussed.

Functional expression of ropporin in human testis and ejaculated spermatozoa.

Asthenozoospermia is a common cause of human male infertility, but the molecular mechanism is not fully understood. With Affymetrix Genechips, ropporin, a component of sperm flagella, was identified by comparing the expression profiles in ejaculated spermatozoa from normozoospermic men and patients with asthenozoospermia. Immunohistochemistry was used to analyze the expression characteristic of ropporin in human testis. Reverse transcription-polymerase chain reaction, Western blotting, and indirect immunofluorescence assay were used to determine the expression of ropporin in ejaculated spermatozoa from normozoospermic and asthenozoospermic men. The results showed that ropporin was predominantly expressed in round spermatids in human testis, and located in the principal piece and the end piece of spermatozoa flagella. The expression level of ropporin was significantly lower in asthenozoospermic men than in normozoospermic controls. These data suggested that ropporin may be involved in sperm motility and its decreased expression may contribute to the low sperm motility in asthenozoospermic patients.

[Development of remote wireless mobile voiding diary and a report of its objective voiding in 20 young people].

OBJECTIVE: To find out the data of the micturitions in healthy young people with the remote & mobile voiding diary monitoring system. METHODS: Twenty healthy young people were studied and ten of them were female. The ages ranged from 22 to 35 years (the mean age: 27.4 years). The females were 22-33 years old (the mean age: 26.4 years ) and the males 24-35 years old (the mean age: 28.4 years). With the remote & mobile voiding diary monitoring system, their voiding information was collected. Through bluetooth, the voiding information was sent to the patient's intelligent cell phone from the collector, then stored directly by intelligent cell phone and wirelessly transmitted to the workstation in the hospital. All of them completed the voiding diaries for 7 days and the data were analyzed. RESULTS: The average micturition of the young healthy people was 5.6 times (3.4-7.4) per 24 hours,in which 5.3 (3.4-7.3) times were in the daytime and 0.3 (0-1.3)times in the night. The functional voiding volume was 318 mL (66-642 mL). The mean voiding volume in 24 hours was 1 724 mL (1152-2 415 mL), in which 1 289 mL (786-2 039 mL) was in the daytime and 435 mL (292-805 mL) in the night. The mean drinking volume was 1 022 mL (453-1 721 mL) in the daytime and 7 mL (0-43 mL) in the night. The nocturia index (Ni) was 1.03, the nocturnal polyuria index (NPi) 26%, and the nocturnal bladder capacity index (NBCi) 0.27. CONCLUSION: The remote & mobile voiding diary monitoring system can help us get the objective voiding information from young health people for the first time. It is reliable, maneuverable and can be widely used in clinical diagnosis.