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1.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 47(3): 396-400, 2022 Mar 28.
Article in English, Chinese | MEDLINE | ID: mdl-35545334

ABSTRACT

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.


Subject(s)
Congenital Hypothyroidism , Cough , Athetosis/genetics , Chorea , Congenital Hypothyroidism/diagnosis , Congenital Hypothyroidism/genetics , Humans , Male , Respiratory Distress Syndrome, Newborn , Thyroid Nuclear Factor 1/genetics
2.
Zhongguo Dang Dai Er Ke Za Zhi ; 22(6): 651-655, 2020 Jun.
Article in Chinese | MEDLINE | ID: mdl-32571467

ABSTRACT

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.


Subject(s)
Blister , Exanthema , Child , Female , Fever , Humans , Lower Extremity , Necrosis
4.
Curr Med Res Opin ; 31(8): 1553-60, 2015 Aug.
Article in English | MEDLINE | ID: mdl-26067770

ABSTRACT

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.


Subject(s)
Carcinoma, Hepatocellular/therapy , Catheter Ablation , Chemoembolization, Therapeutic , Liver Neoplasms/therapy , Adult , Aged , Carcinoma, Hepatocellular/blood , Carcinoma, Hepatocellular/mortality , Catheter Ablation/adverse effects , Chemoembolization, Therapeutic/adverse effects , Combined Modality Therapy , Female , Humans , Liver Neoplasms/blood , Liver Neoplasms/mortality , Male , Middle Aged , Prospective Studies , Survival Rate , Treatment Outcome , alpha-Fetoproteins/analysis
5.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-454164

ABSTRACT

Objective To evaluate the distribution of pathogens causing bone and joint purulent infections and the bacterial resistance to antibiotics,and to provide reference of clinical antibiotic therapy.Methods A total of 514 patients who had bone and joint purulent infections in Department of Orthopedics of Shangrao People’s Hospital from Jan 2009 to Jun 2013 were retrospectively analyzed. Results 296 strains of Gram-negative bacteria were isolated,the infection rate was 47.2%,among which 296 strains of Escherichia coli were the most common infection pathogen,the infection rate was 15.6%,followed by Acinetobacter baumannii,Pseudomonas aeruginosa,and the infection rates were 11.8%,11.3%.331 strains of Gram-positive bacteria were isolated,the infection rate was 52.8%.Staphylococcus epidermidis,Staphylococcus aureus,were the common infection pathogens,following the infection rates were 21.5%,13.7%.Gram-negative bacteria had the highest sensitivity to imipenem,while Gram-positive bacteria had sensitivity to vancomycin.Conclusion Gram-positive bacteria is the main pathogens with bone and joint purulent infections.Selection of antibiotics according to the drug sensitive test has important clinical significance.

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