Detecting rare thalassemia in children with anemia using third-generation sequencing.

Background: In China, conventional genetic testing methods can only detect common thalassemia variants. Accurate detection of rare thalassemia is crucial for clinical diagnosis, especially for children that need long-term blood transfusion. This study aims to explore the application value of third-generation sequencing (TGS) in the diagnosis of rare thalassemia in children with anemia.

Identification of a Novel Hb H Disease with Glucose-6-Phosphate Dehydrogenase Deficiency Using Whole Genome Sequencing.

With the development of sequencing technology, more and more rare thalassemia types have been found. In this article, we found a novel Hb H disease combined with glucose-6-phosphate dehydrogenase (G6PD) deficiency through whole genome sequencing (WGS), which was verified by Sanger sequencing and polymerase chain reaction (PCR)-reverse dot-blot hybridization, respectively.

Protein Restriction with Amino Acid-Balanced Diets Shrinks Circulating Pool Size of Amino Acid by Decreasing Expression of Specific Transporters in the Small Intestine.

Dietary protein restriction is not only beneficial to health and longevity in humans, but also protects against air pollution and minimizes feeding cost in livestock production. However, its impact on amino acid (AA) absorption and metabolism is not quite understood. Therefore, the study aimed to explore the effect of protein restriction on nitrogen balance, circulating AA pool size, and AA absorption using a pig model.

LIM-homeodomain transcription factor Isl-1 mediates the effect of leptin on insulin secretion in mice.

In addition to the well known regulating effects of leptin on energy balance and glucose homeostasis through the central nervous system, circulating leptin has a direct effect on pancreatic islet and insulin secretion through its receptor (OBRb). The LIM-homeodomain transcription factor Isl-1 is expressed in all classes of pancreatic endocrine cells and is involved in regulating both islet development and insulin secretion. Both OBRb and Isl-1 mutations result in obesity-related diabetes.

S-adenosylmethionine stimulates fatty acid metabolism-linked gene expression in porcine muscle satellite cells.

Evidence indicates that both S-adenosylmethionine (SAMe) metabolism and intramuscular fat are associated with insulin resistance and type II diabetes. However, it is still unknown whether SAMe have effects on intramuscular adipogenesis. The present study investigated the roles of SAMe in the adipogenic differentiation of porcine muscle satellite cells.

[Development and clinical application of male human papillomavirus genotyping by membrane DNA chip].

Objective: To develop a new method for the detection of male human papillomavirus (HPV) genotypes and to investigate its clinical application value.

Methods: With computer assistance and based on the classical common primers MY09/11, modified PGMY09/11 with 23 HPV subtypes for PCR and Genbank data on HPV, we designed probes for the simultaneous detection of 18 high-risk subtypes (HPV-16, 18, 31, 33, 35, 39, 45, 51, 52, 53, 56, 58, 59, 66, 68, 73, 83 and MM4) and 5 low-risk subtypes (HPV-6, 11, 42, 43 and 44) and fixed them to the special membrane to make a DNA chip. A total of 112 male urethral samples were collected with swabs and studied for the clinical value.

[Roles of CD8+ CD28- T regulatory cells in acute infectious mononucleosis in children].

Objective: To explore the role of CD(8)(+)CD(28)(-) T regulatory cells (Tr) in the immunological pathogenesis of acute infection with Epstein-Barr virus in children.

Methods: The present study enrolled 25 children with infectious mononucleosis (IM) and 25 age-matched healthy children. Flow cytometric analysis was performed to detect the percentage of CD(3)(+), CD(3)(+)CD(4)(+), CD(3)(+)CD(8)(+), CD(8)(+)CD(28)(+) by determining the ratio of positive cells in lymphocytes.

[Construction of a novel Schistosoma japonicum DNA vaccine pBK-Sj14-3-3 and studies on its immunoprotection in mice].

Objective: To prepare Sj14-3-3 DNA vaccine and observe its immunoprotection against Schistosoma japonicum in mice.

Methods: The Sj14-3-3 gene was amplified by reverse transcription-polymerase chain reaction (RT-PCR) and subcloned into eukaryotic expression vector pBK. The recombinant plasmid pBK-Sj14-3-3 was extracted, purified and inoculated into BALB/c mice by intramuscular injection.