A Novel HLA-C Allele, HLA-C*12:419, Was Identified by Next-Generation Sequencing in a Chinese Individual.

HLA-C*12:419 has a single nucleotide substitution at position 445 G>T when compared to the C*12:02:02:25 allele.

A splice mutation in gene in the patient with recurrent epistaxis and nasal vascular malformation.

Platelet type bleeding disorder-18 (BDPLT18) caused by mutations of Ras guanyl releasing protein 2 () is a relatively rare, new autosomal recessive disorder. Here, we reported a splice mutation in gene in the patient with recurrent epistaxis and nasal vascular malformation. The patient, an 8-year-old girl, suffered from anemia due to frequently severe recurrent epistaxis, requiring regular blood transfusions every 2-3 months.

A Novel HLA-DPA1 Allele, HLA-DPA1*01:204, Was Identified by Next-Generation Sequencing.

HLA-DPA1*01:204 has a single nucleotide substitution at position 426G > T when compared to the HLA-DPA1*01:03:01:15 allele.

The long-term efficacy of eltrombopag in children with immune thrombocytopenia.

Immune thrombocytopenia (ITP) is the most common autoimmune disorder characterized by decreased platelet counts and impaired platelet production. Eltrombopag has been demonstrated to be safe and effective for children with ITP. It is reported eltrombopag can achieve a sustained response off treatment.

Sneddon's syndrome concurrent with cerebral venous sinus thrombosis: A case report.

Background: This report delves into the diagnostic and therapeutic journey undertaken by a patient with Sneddon's syndrome (SS) and cerebral venous sinus thrombosis (CVST). Particular emphasis is placed on the comprehensive elucidation of SS's clinical manifestations, the intricate path to diagnosis, and the exploration of potential underlying mechanisms.

Case Summary: A 26-year-old woman presented with recurrent episodes of paroxysmal unilateral limb weakness accompanied by skin mottling, seizures, and cognitive impairment.

Proposal for the classification of sinomenine alkaloids.

The chemical structure of sinoacutine is formed by a phenanthrene nucleus and an ethylamine bridge. Because it has a similar parent structure to morphine, it is subdivided into morphinane. At present, all reports have pointed out that the basic skeleton of morphine alkaloids is salutaridine (the isomer of sinoacutine), which is generated by the phenol coupling reaction of (R)-reticuline.

Treatment of Severe Refractory Thrombocytopenia in Brucellosis with Eltrombopag: A Case Report.

Brucellosis is a zoonotic disease. Severe refractory thrombocytopenia caused by brucellosis is very rare and easily misdiagnosed. We reported a 5-year-old girl who developed severe refractory thrombocytopenia secondary to brucellosis.

Mesangioproliferative Kidney Diseases and Platelet-Derived Growth Factor-Mediated AXL Phosphorylation.

Rationale & Objective: Immunoglobulin A nephropathy (IgAN) is a common glomerular disease, with mesangial cell proliferation as a major feature. There is no disease-specific treatment. Platelet-derived growth factor (PDGF) contributes to the pathogenesis of IgAN.

Gene Mutation Spectrum of Thalassemia Among Children in Yunnan Province.

Thalassemia is an autosomal genetic disorder, found throughout the world. It is still not treatable and create socio economic problems. In this study, we investigated the prevalence and spectrum features of thalassemia in Yunnan Province, the southwestern area of China.

Bioactivity-Guided Isolation of Cytotoxic Phenanthrenes from Spiranthes sinensis.

Bioactivity-guided separation led to the isolation of six novel phenanthrenes, spiranthesphenanthrenes A-F (1-6), together with 19 known compounds, including seven phenanthrenes (7-13), one bibenzyl compound (14), five flavonoids (15-16 and 20-22), and six simple phenolic compounds (17-19 and 23-25), from the petroleum ether (PE) and ethyl acetate (EtOAc) extracts of Spiranthes sinensis (Pers.) Ames, an edible medicinal plant named "panlongshen" in Chinese that is popularly used in medicinal foods and herbal teas. The structures of the obtained compounds were identified on the basis of extensive NMR spectroscopy and HR-ESI-MS analyses.

A de novo ANK1 mutation associated to hereditary spherocytosis: a case report.

Background: Hereditary spherocytosis (HS) is a type of hemolytic anemia caused by abnormal red cell membrane skeletal proteins with few unique clinical manifestations in the neonate and infant. An ANK1 gene mutation is the most common cause of HS.

Case Presentation: The patient was a 11-month-old boy who suffered from anemia and needed a regular transfusion therapy at an interval of 2-3 months.

Transcriptome analysis of three cultivars of Poria cocos reveals genes related to the biosynthesis of polysaccharides.

Poria cocos (P. cocos) polysaccharides (PCPs) are used to improve immunity and possess antitumor activities. We compared three cultivars of P.

Kanglaite inhibits the expression of drug resistance genes through suppressing PVT1 in cisplatin-resistant gastric cancer cells.

Kanglaite (KLT) was shown to alleviate the development of multidrug resistance (MDR) clinically. The purpose of this study is to examine the mechanism of KLT for chemotherapy resistance in gastric cancer cells involving the regulation of MDR-related proteins. The cisplatin-resistant BGC823/DPP and SGC7901/DDP cells were treated with 1, 2.

Bioactivity-guided isolation of biphenanthrenes from Liparis nervosa.

Three new biphenanthrenes, Liparisphenanthrenes A-C (1-3), along with three known ones were obtained from the ethanolic extract of Liparis nervosa (Orchidaceae) by bioactivity-guided fractionation. Their structures were elucidated on the basis of extensive spectroscopic analysis. All the compounds obtained were tested in vitro for cytotoxic activities against stomach (HGC-27) and colon (HT-29) cancer cell lines.

Analysis of the setup errors of medical image registration-based cone-beam CT for lung cancer.

Purpose: This study aimed to investigate the feasibility of efficiently using a rigid image registration (RIR) algorithm or a deformable image registration (DIR) algorithm to match medical images and evaluate the impact of setup errors on intensity modulated radiation therapy of lung cancer patients.

Methods: Ten lung cancer patients were chosen randomly each day and were subjected to image-guided radiotherapy. The clinical registration between cone-beam computed tomography (CBCT) images and treatment planning system CT images was performed by applying both RIR and DIR; the clinical registration was evaluated on the basis of the contour index, including dice similarity coefficient, sensitivity, and positive predictive value; the optimal scheme of image registration was selected to ensure that the actual irradiation isocenter was consistent with the treatment planning isocenter.

New Insights into the Pathogenesis of IgA Nephropathy.

Background: IgA nephropathy, a frequent cause of end-stage renal disease, is an autoimmune disease wherein immune complexes consisting of IgA1 with galactose-deficient -glycans (autoantigen) and anti-glycan autoantibodies deposit in glomeruli and induce renal injury. Multiple genetic loci associated with disease risk have been identified. The prevalence of risk alleles varies geographically, highest in eastern Asia and northern Europe, fewer in other parts of Europe and North America, and the least in Africa.

Overexpression of long non-coding RNA PVT1 in gastric cancer cells promotes the development of multidrug resistance.

Background: The development of multidrug resistance (MDR) is a crucial problem of therapy failure in gastric cancer, which results in disease recurrence and metastasis. Plasmacytoma variant translocation 1 (PVT-1), a long non-coding RNA (lncRNA), was previously found to be increased in gastric cancer patients and regulated the chemotherapy sensitivity in pancreatic cancer cells. However, the role of PVT1 in multidrug resistant Gastric cancer remains largely unexplored.

Relationship between methylenetetrahydrofolate reductase (MTHFR) A1298C gene polymorphism and type 2 diabetic nephropathy risk: a meta-analysis.

Relationship between methylenetetrahydrofolate reductase (MTHFR) A1298C gene polymorphism and type 2 diabetic nephropathy (T2DN) risk is still unclear. This study was performed to evaluate if there is an association between the MTHFR A1298C gene polymorphism and T2DN risk using meta-analysis. The relevant reports were searched and identified from PubMed, Cochrane Library on 1 October 2013, and eligible studies were included and synthesized.

A meta-analysis of the association of G915C, G800A, C509T gene polymorphism of transforming growth factor-β1 with diabetic nephropathy risk.

This meta-analysis was conducted to evaluate the association of transforming growth factor-β1 (TGF-β1) G915C, G800A, C509T gene polymorphism with the risk of diabetic nephropathy (DN). The association literatures were identified from PubMed, Cochrane Library, and CBM-disc (China Biological Medicine Database) on March 1, 2013, and eligible reports were recruited and synthesized. Seven reports were recruited into this meta-analysis for the association of TGF-β1 G800A, C509T, G915C gene polymorphism with DN risk.

Over-expression of OsHsfA7 enhanced salt and drought tolerance in transgenic rice.

Heat shock proteins play an important role in plant stress tolerance and are mainly regulated by heat shock transcription factors (Hsfs). In this study, we generated transgenic rice over-expressing OsHsfA7 and carried out morphological observation and stress tolerance assays. Transgenic plants exhibited less, shorter lateral roots and root hair.

[Early-stage conservative removal of scars and delayed skin grafting for severe burns in the neck: report of 13 cases].

Objective: To optimize the treatments for severe burns in the neck to prevent the hypertrophy, contraction and deformation of the scars and avoid repeated surgical repair.

Methods: At the early stage of severe neck burns, conservative removal of the scabs was adopted with a small portion of the necrotic tissues preserved. Wound addressing was performed with anti-infection measures supplemented with the application of agents for dissolving the scars, promoting the epithelial growth and preventing local inflammation.