A case of brain-lung-thyroid syndrome. / 脑-肺-ç”²çŠ¶è ºç»¼åˆå¾1例.

Brain-lung-thyroid syndrome is a rare autosomal dominant disorder. More than 100 cases have been reported worldwide, but few cases have been reported in China. In December 2018, a boy with brain-lung-thyroid syndrome, aged 3 years and 10 months, was admitted to Xiangya Hospital of Central South University due to repeated cough for more than 3 years. In infancy of the boy, psychomotor retardation, repeated cough, and hypothyroidism were found. Gene detection showed that there was c.927delc heterozygous variation in NKX2-1 gene (NM-001079668: exon3: c.927delC). The variation of this gene locus has not been reported in relevant literature so far, which indicates a new mutation. According to the above clinical manifestations and examination results, the boy was diagnosed as brain-lung-thyroid syndrome, which mainly characterized by nervous system disorders, accompanied by respiratory manifestations and hypothyroidism. The boy was treated with oral dopasehydrazine to relieve tremor and levothyroxine sodium tablets to relieve hypothyroidism. Anti-infection, atomization, rehabilitation training and other symptomatic supporting treatment were also administered. The boy's language and movement have improved, the thyroid hormone level is normal, and there are still repeated respiratory tract infections.

[Acute fever with rash, necrosis, and bullae in both lower extremities in a 12-year-old girl].

A girl, aged 12 years, was admitted due to fever and rash for 3 days. The child developed recurrent high fever and rash on both lower extremities 3 days before, and the rash on left lower extremity quickly merged into a patch within 24 hours, with hemorrhage and necrosis in black and purple, large vesicles, and blisters in the center. Laboratory examination showed a reduction in platelet count and significant increases in fibrinogen and D-dimer during the course of the disease. The child was diagnosed with purpura flulminans. She was given meropenem combined with linezolid for anti-infection, injection of gamma globulin for immunoregulation, and low-molecular-weight heparin for anticoagulation. The fluid in the rash blisters was drawn and the wound was treated to prevent infection. The child's temperature returned to normal, with improvement in gangrene. She was discharged after platelet count, fibrinogen, and D-dimer had returned to normal. Purpura fulminans is a rare thrombotic hemorrhagic disease with rapid progression and is commonly seen in children. Without timely treatment, it may cause severe sequelae with high disability and mortality rates. Anti-infection, correction of coagulation function, and local management of gangrene skin are of great importance during treatment.

Long-term outcome of transcatheter arterial chemoembolization after radiofrequency ablation as a combined therapy for Chinese patients with hepatocellular carcinoma.

OBJECTIVE: This study was undertaken to assess the long-term outcome of transcatheter arterial chemoembolization (TACE) after radiofrequency ablation (RFA) combined with a combined therapy for Chinese patients with intermediate (stage B) hepatocellular carcinoma (HCC) of single block type, and evaluate the survival rate for 1, 3, 5, and 7 years. RESEARCH DESIGN AND METHODS: This prospective, single-center study consisted of patients with solitary massive intermediate (stage B) HCC treated by RFA combined with TACE from October 1999 to December 2013. MAIN OUTCOME MEASURES: The survival rate of the patients for 1, 3, 5, and 7 years, and safety of the RFA treatment in the interim, total RFA for each case, and number of TACE cycles were evaluated. RESULTS: Ninety-three patients (aged 54.4 ± 8.0 years) underwent RFA combined with TACE as a combined therapy, and they were analyzed and followed up until December 2013. The mean time for the initial ablation was 1.5-3 h, and, on average, each patient received 1.39 RFA and 1.43 TACE therapies. Overall, complete ablation was achieved in nine patients, and the majority of ablation was seen in 84 patients. The longest survival time was 102 months and, among the survivors the 1, 3, 5, and 7 year survival rate was 94.4%, 52.3%, 26.1%, and 14.1%, respectively. The median survival time was 36 months (95% confidence interval = 32.7-39.3). Serum alpha-fetoprotein (AFP) levels showed significant correlation with tumor size in patients with HCC (r = 0.323, p = 0.0001). There were no major complications related to this therapy. CONCLUSION: This was the first study that performed RFA combined with TACE in Chinese patients with intermediate (stage B) HCC. RFA combined with TACE, as a combined therapy for intermediate (stage B) HCC, seems to be a promising regimen that showed a satisfactory clinical effect, which may become a new therapy mode for HCC. However, a larger cohort and control group(s) reflecting usual standards of care are needed to assess the external validity of these results in a wider population.