Case report: Noonan syndrome with protein-losing enteropathy.

Noonan syndrome (NS) is characterized by typical facial features, short stature, congenital heart defects and other comorbidities. Lymphedema and chylous pleural effusions are also common in NS, but protein-losing enteropathy (PLE) is rarely reported. We present the case of a 19-year-old Chinese woman presenting with PLE.

Brefeldin A delivery nanomicelles in hepatocellular carcinoma therapy: Characterization, cytotoxic evaluation in vitro, and antitumor efficiency in vivo.

Hepatocellular carcinoma (HCC) is one of the major cancers with high mortality rate. Traditional drugs used in clinic are usually limited by the drug resistance and side effect and novel agents are still needed. Macrolide brefeldin A (BFA) is a well-known lead compound in cancer chemotherapy, however, with poor solubility and instability.

Brefeldin A Induces Apoptosis, Inhibits BCR-ABL Activation, and Triggers BCRABL Degradation in Chronic Myeloid Leukemia K562 Cells.

Background: Chronic Myeloid Leukemia (CML) is a myeloproliferative disease caused by BCR-ABL oncoprotein. Tyrosine kinase inhibitors have been developed to inhibit the activity of BCR-ABL; however, drug resistance and side effect occur in clinic application. Therefore, it is urgent to find novel drugs for CML treatment.

Pregnancy outcomes of women with elevated second-trimester maternal serum alpha-fetoprotein.

Objective: The aim of this study was to investigate the overall distribution of pregnancy outcomes in women with elevated second-trimester maternal serum alpha-fetoprotein (MS-AFP), and to determine the risk of adverse pregnancy outcomes (APOs) by MS-AFP level.

Materials And Methods: We retrospectively analyzed the clinical data of 429 women with elevated MS-AFP (≥2.5 multiple of the median (MOM)) and 1555 women with normal MS-AFP (0.

[Association of copy number of SMN1 and SMN2 with clinical phenotypes in children with spinal muscular atrophy].

Objective: To study the association of copy number of SMN1 and SMN2 with clinical phenotypes in children with spinal muscular atrophy (SMA).

Methods: A total of 45 children with SMA were enrolled. Multiplex ligation-dependent probe amplification was used to measure the gene copy numbers of SMN1 and SMN2.

[Gene Analysis of Thalassemia in Han and Dai Ethnic Childbearing-aged Population of Chinese Yunnan Province].

Objective: To investigate the common mutation spectrum of α- and β-thalassemia in Yunnan childbearing-aged population.

Methods: The common mutation types of α- or β-globin genes were detected by multiple Gap-PCR and the PCR-reversed dot blotting, and the unknown mutation types were determined by DNA sequencing in DNA samples of hypochromic microcytic anemia patients and carriers who were confirmed to be positive by serologic screaning, then the mutation types of globin in Yunnan population were analyzed statistically.

Results: A total of 40 kinds of mutation types were detected in 685 detected persons, among them the 3 commonest mutation types of α-globin genes were --(SEA)/αα (49.

[Study on key techniques and intervention in reducing birth defects].

Objective: To investigate key techniques and intervention in reducing birth defects.

Method: Down's syndrome (DS), trisomy-18 (Edwards syndrome, ES), neural tube defects (NTD), Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), thalassemia, and glucose-6-phosphate dehydrogenase deficiency (G6PD) were chosen as target disease. From Jan.