Case report: A novel mutation of RecQ-like helicase 5 in a Chinese family with early myocardial infarction, coronary artery disease, and stroke hemiplegia.

Background: Myocardial infarction (MI) is a type of severe coronary artery disease (CAD) that can lead to heart failure and sudden cardiac death. The prevalence of heart failure globally is estimated at 1%-2%, of which ∼60% of cases are the consequence of MI as the primary cause. At present, several disease-causing genes have been identified that may be responsible for MI, such as autophagy-related 16-like 1 (ATG16L1) and RecQ-like helicase 5 (RECQL5). Methods: In this study, we enrolled a Chinese family with MI, CAD, and stroke hemiplegia. Whole-exome sequencing was applied to analyze the genetic lesion of the proband. Sanger sequencing was used to validate the candidate mutation in five family members and 200 local control cohorts. Results: After data filtering, we detected a novel mutation (NM_004259: c.1247T>C/p.I416T) of RECQL5 in the proband. Sanger sequencing further validated that the novel mutation was existent in the affected individuals, including the proband's younger sister and her mother, and absent in the other healthy family members and 200 local control cohorts. Furthermore, bioinformatics analysis confirmed that the novel mutation, located in a highly evolutionarily conserved site, was predicted to be deleterious and may change the hydrophobic surface area and aliphatic index of RECQL5. Conclusion: Here, we report the second mutation (NM_004259: c.1247T>C/p.I416T) of RECQL5 underlying MI and CAD by whole-exome sequencing. Our study expanded the spectrum of RECQL5 mutations and contributed to genetic diagnosis and counseling of MI and CAD.

Preparation and optical properties of Fe3O4 nanoparticles-doped blue phase liquid crystal.

The magnetic Fe3O4 nanoparticle-doped blue phase liquid crystal (BPLC) was found to have a relatively strong contrast ratio in magnetic-addressed display performance compared to the composites in other phases; this is a new application of the BPLC and a way to prepare a new type of power-free magnetically-driven LC flexible display.

[Vacuum sealing drainage and free coupling chain-link posterior tibial artery flap in the reconstruction of degloving injury of propodium].

OBJECTIVE: To present the methods of vacuum sealing drainage and free coupling chain-link flap of posterior tibial artery flap and medial plantar flap in the reconstruction of degloving injury of propodium. METHODS: From Oct. 2008 to Dec. 2011 five cases with degloving injury of propodium underwent debridement and vacuum sealing drainage on the first stage. Free chain-link flap of posterior tibial artery flap and medial plantar flap were applied to close the wound at the secondary stage. The nerve was included in the coupling flaps. The size of posterior tibial artery flap ranged from 14 cm x 10 cm to 11 cm x 8 cm,and the size of medial plantar flap ranged from 12 cm x 8 cm to 8 cm x 6 cm. RESULTS: All flaps were survived with no vascular crisis. The flap sensation recovered to S3-S3 during the follow-up period of 6-21 months. The texture and appearance of flaps were satisfied. The plantar had not ulcer and corpus callosum. CONCLUSION: Vacuum sealing drainage and free chain-link flap of posterior tibial artery flap and medial plantar flap with nerve are the ideal methods for the reconstruction of degloving injury of propodium.

[Fingertip replantation with anastomosis of palm vein and retaining the nail].

OBJECTIVE: To study the replantation methods and clinical results of amputated fingertip. METHODS: From October 2007 to June 2011, 18 fingers of 13 cases were replanted with anastomosis of palm vein and retaining the nail, including 9 males and 4 females,with an average age of 26 years old ranging from 17 to 45 years old. The time from injury to therapy was from 30 min to 5 h, time of broken finger ischemia was from 1.5 to 7 h. All broken fingers were preservation under normal temperature. RESULTS: All fingers were survived, no vascular crisis happened. All cases were followed up from 3 to 24 months with an average of 14 months. The length and shape of replanted fingers were similar to that of the healthy side. The new nails were smooth, the function was perfect,the sense of pain and touched sensation had been recovered. Their two-piont discriminations ranged from 3 to 6 mm with an average of 5 mm. According to the assessment standard of Chinese Medical Association of Hand Surgery, the results were excellent in 14 cases, good in 3 cases, poor in 1 case. CONCLUSION: Fingertip replantation with anastomosis of palm vein and retaining the nail is regained satisfactory appearance and function of the digits with a high survival rate.