Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance.

BACKGROUND: There have been few reports of mutations in the beta-myosin heavy chain (MYH7) gene in hypertrophic cardiomyopathy (HCM), which is associated with sudden cardiac death caused by HCM. This study aimed to screen the mutation sites in the sarcomeric gene MYH7 in Chinese patients with HCM. We also planned to analyze the pathogenicity of the mutation site as well as its significance in clinical and forensic medicine. METHODS: From January 2006 to June 2017, autopsy cases were collected from the Department of Pathology, the Affiliated Hospital of Qingdao University. The experiment was to detect MYH7 gene status in formalin-fixed paraffin-embedded tissues from 18 independent autopsy cases who suffered HCM related sudden death (fatal HCM) and 20 cases without cardiomyopathy. Common mutation exon fragments of MYH7 gene were amplified by polymerase chain reaction. The end-of-deoxygenation method and gene cloning method were further performed to analyze the mutation sites. Homologous comparison among mutant sites was conducted using BLAST online database. RESULTS: The 1336th nucleotide of MYH7 gene at exon 14 was converted from T to G in one HCM case, resulting in the conversion of threonine (Thr) at position 446 to proline (Pro). In another case, the 1402th nucleotide at exon 14 was converted from T to C, resulting in the conversion of phenylalanine (Phe) at position 468 to leucine (Leu). Homologous comparison results showed that the two amino acid residues of Thr446 and Phe468 are highly conserved among different species. CONCLUSIONS: Our results showed fatal HCM harbored mutations of Thr446Pro and Phe468Leu in the MYH7 gene. It is significant for clinical and forensic medicine to further explore the functions and detailed mechanisms of these mutations.

Modified viscocanalostomy in the Chinese population with open angle glaucoma: a 10-year follow-up results.

AIM: To study the long-term efficacy and safety of modified viscocanalostomy in Chinese people with open angle glaucoma (OAG). METHODS: This retrospective study included a total of 100 eyes from 100 Chinese patients with medically uncontrolled OAG. All the patients underwent modified viscocanalostomy with injection of viscoelastic material in the surgically created ostia of Schlemm's canal (SC). The modifications included peeling of the inner wall of SC and the juxtacanalicular meshwork, use of mitomycin C, and loosely suturing the superficial scleral flap. Intraocular pressure (IOP), visual acuity, number of medications, laser goniopuncture data and complications were recorded. The definition of complete (qualified) success was an IOP equal to or lower than 21, 18, 16 mm Hg without (with or without) anti-glaucoma medications. RESULTS: The mean IOP was 33.5±9.9 mm Hg before surgery, 15.2±3.6 mm Hg (mean IOP reduction of 51%) at 5y after surgery, and 15.6±2.8 mm Hg (mean IOP reduction of 49.9%) at 10y after surgery (P<0.001). The number of anti-glaucoma medications dropped from 2.39±0.5 preoperatively to 0.47±0.8 at 5y and 0.67±0.8 at 10y postoperatively (P<0.001). The follow-up period was 104.5±37.0mo. The qualified success rate for an IOP of 21, 18 or 16 mm Hg or less was 84% [95% confidence interval (CI): 0.80-0.88], 73% (95%CI: 0.68-0.78), and 59% (95%CI: 0.52-0.66) after 5y, and 80% (95%CI: 0.76-0.84), 69% (95%CI: 0.64-0.74), 51% (95%CI: 0.44-0.58) after 10y, respectively. There was a relationship between age, preoperative IOP and success rate (P<0.01, P<0.05). A total of 31 eyes (31.3%) in 31 patients underwent laser goniopuncture, decreasing the IOP from 22.9±4.3 mm Hg to 16.3±2.5 mm Hg (P<0.01). Neither blebitis nor endophthalmitis occurred. CONCLUSION: Modified viscocanalostomy could be performed to lower IOP, decrease multiple anti-glaucoma drops use as well. It's a safe procedure with less complications over 10y in Chinese individuals with OAG.

Correction to "Acute calculous cholecystitis: Review of current best practices".

[This corrects the article on p. 5 in vol. 9, PMID: 28603584.].

Contralateral breast metastasis from pulmonary adenocarcinoma: two cases report and literature review.

Carcinoma metastatic to breast from extra-mammary malignancy is rare and only accounts for 0.4-1.3% of all breast cancer. Two rare cases of single breast metastasis from pulmonary adenocarcinoma were reported here with a brief review of the pertinent literature. The only complaint of the these two female patients was painless breast mass found recently. Most breast metastasis previously reported are present in the upper outer quadrant, however, in our study, one case was found to be located in the lower inner quadrant and the other in the upper inner quadrant. Tumor cells from breast biopsy were immune-positive for thyroid transcription factor-1. The two patients survived 5 and 8 months, respectively, following the diagnosis of both the primary lung tumor and the breast metastasis. Breast metastasis from lung adenocarcinoma is rare but does exist. The awareness of this possibility may help to differentiate the tumor from primary breast carcinoma. Clinical history and immunohistochemical studies are essential to reach the final diagnosis.