Charcot-Marie-Tooth disease (CMT) is a progressive hereditary peripheral neuropathy characterized by symmetrical distal muscle atrophy, sensory impairment, disappearance of tendon reflexes in both lower limbs, arch foot, claw hand, and scoliosis. This article reports a family of CMT type 4C (CMT4C), whose proband carries a compound heterozygous mutation of c.2782C>T and c.1586G>A in the SH3TC2 gene, with ataxia as the main symptom. The literatures related to CMT4C patients in major databases at home and abroad are summarized to provide reference for early identification and diagnosis of this type of patient.

Charcot-Marie-Tooth disease (CMT) is a progressive hereditary peripheral neuropathy characterized by symmetrical distal muscle atrophy, sensory impairment, disappearance of tendon reflexes in both lower limbs, arch foot, claw hand, and scoliosis. This article reports a family of CMT type 4C (CMT4C), whose proband carries a compound heterozygous mutation of c.2782C>T and c.1586G>A in the SH3TC2 gene, with ataxia as the main symptom. The literatures related to CMT4C patients in major databases at home and abroad are summarized to provide reference for early identification and diagnosis of this type of patient.

Hepatocellular carcinoma is a kind of cancer with a strong invasion, a high incidence rate and mortality, and a poor prognosis. At the time of diagnosis, most patients are already in the advanced stages of a tumor and have lost the chance for radical surgical treatment. Advanced hepatocellular carcinoma treatment has a gradual transition from systemic chemotherapy to targeted therapy, immunotherapy, and combination therapy, especially immune checkpoint inhibitor-based immunotherapy combination therapy, such as combination with bevacizumab monoclonal antibodies and other drugs, or combination with TACE, HAIC, radiotherapy, ablation, and other treatment methods. Combination therapy has significant synergistic effects and thus has already become a future treatment trend for hepatocellular carcinoma. An immunotherapy-based combination therapy plan will run through the whole process of systemic therapy, which is expected to bring better survival benefits to patients with hepatocellular carcinoma. This article reviews the latest research progress in aspects of the first-line treatment of advanced hepatocellular carcinoma.

Objective: To investigate the clinical effect of conjoint fascial sheath (CFS) suspension to correct the complications caused by the frontal muscle flap suspension and levator palpebrae superioris shortening in the treatment of severe blepharoptosis. Methods: From February 2017 to April 2018, 19 severe blepharoptosis patients (21 eyelids) were operated before by the frontal muscle flap suspension and levator plapebrae superioris shortening, and repaired through the technology of CFS suspension. Results: There were 19 cases, 17 cases operated by CFS suspension showed a good appearance and basically symmetrical of two eyes, and the other 2 cases obtained satisfactory results though reoperation. There were no complications of exposure keratitis, ectropion and infection occurred. Meantime the effect was satisfactory according to the follow-up ranging from 3 months to 12 months. Conclusions The application of conjoint fascial sheath (CFS) suspension shows a promising procedure in the treatment of severe blepharoptosis caused by the frontal muscle flap suspension and levator palpebrae superioris shortening.

Objective: To evaluate the application of the expanded free deltopectoral flap, pedicled with perforation of internal thoracic artery, in the repairment of middle to large facial skin and soft tissue defect. Methods: From June 2015 to December 2017, 11cases diagnosed with facial lesions were included in this study. The tissue defect of 10 cases were caused by burn, and 1 case by superficial tumor. In the first stage, the tissue expander was implanted into the internal thoracic artery supplying area. After the expander was fully expanded, the second surgery, i. e. the resection of facial lesion, was performed. The defect areas of patients, with the range of 9 cm×7 cm to 17 cm×10 cm, were repaired by expanded free deltopectoral flaps. Results: All flaps were survived, with no vascular crisis occurred. The size of flaps ranged from 10.0 cm×9.0 cm to 18.0 cm×11.5 cm. All the patients were satisfied with the outcomes, after 6 to 24 months follow-up. The color and texture of flaps was close to normal. The scars were acceptable. Conclusions The expanded free deltopectoral flap, pedicled with the perforator of internal thoracic artery, is a promising way to repair middle to large facial skin and soft tissue defect.