[Ion Torrent PGM sequencing for detection of Y chromosome microdeletion in 87 cases of azoospermia].

OBJECTIVE: To explore the feasibility of Ion Torrent PGM sequencing in detection of Y chromosome microdeletion. METHODS: We enrolled 87 infertility patients with non-obstructive azoospermia (NOA) in this study and analyzed their routine semen parameters, reproductive hormone levels and chromosomal karyotypes. We detected Y chromosome microdeletion in the patients by Ion Torrent PGM sequencing and multiplex PCR, and compared the detection rates between the two methods. RESULTS: Ion Torrent PGM sequencing achieved a significantly higher detection rate of Y chromosome microdeletion than multiplex PCR (49.4% vs 12.6%, P < 0.05). The cases of AZF deletion detected by Ion Torrent PGM sequencing included all those detected by multiplex PCR, and the deletion sites were completely consistent. In addition, 14 male infertility-related gene mutations were detected in 24 of the 87 patients, with a total positive rate of 27.59%. CONCLUSION: Ion Torrent PGM sequencing can significantly improve the detection rate of Y chromosome microdeletion in infertility patients with NOA, detect a variety of male infertility-related gene mutations, and therefore contribute to the diagnosis of azoospermia.

Samonella typhi infection-related appendicitis: A case report.

BACKGROUND: Acute appendicitis is one of the most common acute abdominal emergencies around the world, which is always associated with infection. Infection with Salmonella typhi, an enteric pathogen, is a rare cause of acute appendicitis. We here report a patient with acute appendicitis associated with Samonella typhi infection, accompanied with spleen and kidney infarction, providing a rare example for a common surgical emergency. CASE SUMMARY: A 25-year-old Pakistani man presented to the hospital with a 3-d history of fevers, vomiting, and abdominal pain. Computed tomography (CT) revealed a thickened intestinal wall of the ileocecal junction with multiple enlarged lymph nodes nearby. He was diagnosed with acute appendicitis and received laparoscopic appendectomy, which showed mild inflammation of the appendix. After the surgery, the patient presented again with a high fever (> 39 °C) and diarrhea. A CT angiography scan indicated spleen and kidney infarction. According to the blood culture, the diagnosis was finally clear to be Samonella typhi infection. The pyrexia and enteric symptoms were relieved after the application of intravenous levofloxacin. CONCLUSION: This case, characterized by the combination of Salmonella typhi infection, acute appendicitis, and renal and splenic infraction, serves as a rare example for a common surgical emergency.

Cadmium and cardiovascular disease: An overview of pathophysiology, epidemiology, therapy, and predictive value.

Cadmium is a widely distributed toxic heavy metal that has been associated with many diseases including chronic renal dysfunction, osteomalacia, acute heart failure, secondary hypertension, and atherosclerosis. Although several studies have suggested that cadmium may affect multiple systems by inducing lipid per oxidation in cells and disturbing the antioxidant system, the mechanism by which cadmium affects the cardiovascular system remains unclear. Recent studies on heart failure and acute myocardial infarction have shown that cadmium has good predictive ability for mortality in patients with cardiovascular disease. In this study, we briefly review the role of cadmium in cardiovascular disease, which may prompt further studies to investigate the potential association between cadmium and mortality in patients with cardiovascular disease.