Adenocarcinoma of the appendix invading the urinary bladder is very rare. We describe such a case in a 42-year-old man and review the relevant literatures. In the present case, although ultrasonography and computed tomography scan revealed a mass in the bladder or in the pelvic and biopsies by cystoscopy showed an adenocarcinoma suspicious for primary of the bladder, its real origin was hard to distinguish. An open exploratory surgery was performed with subsequent resection of appendix and partial bladder. Postoperative histopathological examinations revealed the appendiceal adenocarcinoma infiltrating the bladder wall. The patient refused the right hemicolectomy and received 3 cycles of adjuvant radiotherapy. However, tumor recurrence was found in the bladder 6 months after surgery, and radical cystectomy was eventually performed.
Migration and embedding of an intrauterine contraceptive device (IUCD) in the urinary bladder wall is rare. We present such a case of a 30-year-old woman with complaints of persistent lower urinary tract symptoms and a history of IUCD placement 8 years earlier. The IUCD was successfully removed with cystoscopy alone. The patient recovered well and had her second baby after the surgery without complaints of new urinary symptoms.
Background
As a rare disease leading to male infertility, A has strong heterogeneity of clinical phenotype and gene mutation. At present, there is no effective diagnosis and treatment method for this disease, and the research on its pathogenesis is not exhaustive
Objectives
To explore the possible new pathogenic gene of idiopathic hypogonadotrophic hypogonadism and the pathological mechanism affecting its occurrence.
Patients and methods:
We performed a whole-exome sequencing on 9 patients with normosmic idiopathic hypogonadotropic hypogonadism (nIHH), 19 varicocele patients with weak sperm, oligospermia or azoospermia and 5 patients with simple nonobstructive azoospermia and carried out comparative analysis, channel analysis, etc.
Results
After preliminary sequencing screening, 309–431 genes harbouring variants, including SNPs and indels, were predicted to be harmful per single patient in each group. In genetic variations of nIHH patients’ analysis, variants were detected in 10 loci and nine genes in nine patients. And in co-analysis of the three patient groups, nine nIHH patients, 19 VC patients, and five SN patients shared 116 variants, with 28 variant-harbouring genes detected in five or more patients. After that, we found that many genes crossed among groups and selected the highest number of 17 genes for analysis.
Conclusion
We found that the NEFH, CCDC177 and PCLO genes and the Gene Ontology pathways GO:0051301: cell division and GO:0090066: regulation of anatomical structure size may be key factors in the pathogenic mechanism of IHH. Our results suggest the pathogenic mechanism of IHH is not limited to the central nervous system effects of GnRH but may involve other heterogeneous pathogenic genetic variants that affect peripheral organs.
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