A novel splice donor mutation in caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review.

Introduction: Hypomorphic mutations of cause an atypical severe combined immunodeficiency (SCID), and Epstein-Barr virus (EBV)-related colon lymphoma is a rare complication.

Case Presentation: A teenage boy presented with colon EBV-related colon lymphoma, plantar warts, and a history of recurrent pneumonia. His peripheral blood lymphocyte count and serum level of immunoglobulin (Ig) G were normal, but he exhibited a TBNK immunophenotype.

Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation.

Background: NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnormal liver function, and poor growth. This study presents a 10-month-old female infant with elevated liver transaminases, developmental delay, epilepsy (subclinical seizures), and constipation who possesses two compound heterozygous mutations in NGLY1.

Case Presentation: The proband was admitted to the Department of Gastroenterology, Children's Hospital of Soochow University, with elevated liver transaminases.

Matrine reduces the secretion of exosomal circSLC7A6 from cancer-associated fibroblast to inhibit tumorigenesis of colorectal cancer by regulating CXCR5.

Tumor microenvironment (e.g., stromal cells) has been suggested to be implicated in colorectal cancer (CRC) progression.

A meta-analysis of dietary carbohydrate intake and inflammatory bowel disease risk: evidence from 15 epidemiology studies.

Background And Purpose: epidemiological studies that assess the association of dietary total carbohydrate intake and inflammatory bowel disease risk (IBD) have yielded controversial results. Therefore, this study of various epidemiological studies was conducted in order to explore this relationship.

Methods: a systematic literature search of the PubMed, Embase, Web of Science and Medline databases was performed up to September 2017.

[Research of chitins to technology of clarification for xiangjuganmaokeli extraction].

Objective: To study the procedure of chitosan to technology of clarification for xiangjuganmaokeli extraction and measure its content.

Methods: The best technology was choosed by orthogonal test. Relative density, the total solid, total sugar and the content of acacetin were examined after the nature clearness and chitins clarify.