Objective:To investigate the effect of modified bowel examination schedule and corresponding bowel preparation protocol on bowel preparation quality and satisfaction of patients with Crohn′s disease (CD) undergoing CT enterography (CTE) and colonoscopy during follow up.Methods:A total of 207 patients with CD in our hospital from December 2021 to October 2022 were prospectively included in the study, among whom 94 patients from West Hospital and South Hospital were used as control group, with routine examination arrangement and intestinal preparation protocol; 113 patients from East Hospital were used as observation group with modified examination arrangement and intestinal preparation protocol, meaning that these two examinations were adjusted to the same day and were combined with oral laxative bowel preparation. The differences between the two groups in the quality of bowel preparation, satisfaction and adverse effects of oral laxatives were analyzed.Results:Observation group was higher qualified rate of intestinal preparation (88.50% vs. 86.17%), and lower the adverse reaction rate of intestinal preparation (6.19% vs. 7.45%) as compared to, and both the differences were not statistically significant (both P>0.05). The total score of patient satisfaction (very satisfactory and satisfactory) in the observation group was significantly higher than that in the control group (92.04% vs. 53.20%), and the difference was statistically significant ( P<0.05) . Conclusion:Modified examination arrangement and intestinal preparation protocol are suitable for patients with CTE and colonoscopy during follow-up, which do not affect the quality of intestinal preparation and do not increase the incidence of adverse reactions, while can improve patient satisfaction. This protocal is worthy of clinical promotion and implementation.

Objective:To investigate the effect of modified bowel examination schedule and corresponding bowel preparation protocol on bowel preparation quality and satisfaction of patients with Crohn′s disease (CD) undergoing CT enterography (CTE) and colonoscopy during follow up.Methods:A total of 207 patients with CD in our hospital from December 2021 to October 2022 were prospectively included in the study, among whom 94 patients from West Hospital and South Hospital were used as control group, with routine examination arrangement and intestinal preparation protocol; 113 patients from East Hospital were used as observation group with modified examination arrangement and intestinal preparation protocol, meaning that these two examinations were adjusted to the same day and were combined with oral laxative bowel preparation. The differences between the two groups in the quality of bowel preparation, satisfaction and adverse effects of oral laxatives were analyzed.Results:Observation group was higher qualified rate of intestinal preparation (88.50% vs. 86.17%), and lower the adverse reaction rate of intestinal preparation (6.19% vs. 7.45%) as compared to, and both the differences were not statistically significant (both P>0.05). The total score of patient satisfaction (very satisfactory and satisfactory) in the observation group was significantly higher than that in the control group (92.04% vs. 53.20%), and the difference was statistically significant ( P<0.05) . Conclusion:Modified examination arrangement and intestinal preparation protocol are suitable for patients with CTE and colonoscopy during follow-up, which do not affect the quality of intestinal preparation and do not increase the incidence of adverse reactions, while can improve patient satisfaction. This protocal is worthy of clinical promotion and implementation.

OBJECTIVE: To explore the genetic pathogenesis of X-linked agammaglobulinemia in two patients for clinical diagnosis and family counseling. METHODS: Data was collected from the patients' family including clinical information, blood immunoglobulin level, as well as classification and subgrouping of B lymphocytes. Gene mutations were screened by whole exome sequencing (WES) through next-generation sequencing (NGS), the result was verified with Sanger sequencing. RESULTS: A BTK c.1627T>C (p.Ser543Pro) variant was found in the pedigree. The phenotype and variant have co-segregated in the pedigree. The variant was not found in population database. The variant has affected in the kinase domain which contained no benign variants and is harmful as predicted through bioinformatic analysis. CONCLUSION BTK c.1627T>C (p.Ser543Pro) is a pathogenic variant contributing to X-linked agammaglobulinemia in this pedigree. Above finding has provided reproduction guidance for this family.
Agammaglobulinaemia Tyrosine Kinase/genetics* ; Agammaglobulinemia/genetics* ; DNA Mutational Analysis ; Genetic Diseases, X-Linked ; Humans ; Mutation ; Pedigree

Objective ToexploretheMRIfeaturesofgrowthhormonedeficiency(GHD)inchildrenwithshortstaturecausedby pituitarylesions,inordertoimprovethediagnosticlevelofthesediseases.Methods MRIandclinicaldataof624patientsofGHD withshortstaturecausedbypituitarylesionswereretrospectivelyanalyzed.Results Inshortstaturecausedbypituitarylesions,there were383caseswithanteriorpituitarydysplasia(61.4%);49casesofpituitarystalkinterruptionsyndrome(PSIS)(7.9%);16cases ofpituitaryhyperplasiaduetoprimaryhypothyroidism (2.6%);41casesofRathkecleftcyst(6.6%);74casesofemptysellasyndrome(11.9%);17 casesofpituitaryinvasionbyLangerhanscellhistiocytosis(2.7%);2casesofsellarregionalarachnoidcyst(0.3%);and42casesof craniopharyngioma(6.7%).MRIshowedtheheightofanteriorpituitarywaslessthannormal,andthelocation,sizeandsignalsof posteriorpituitaryandpituitarystalkwerenormalinanteriorpituitarydysplasia.Noorthinpituitarystalk,anteriorpituitaryhypoplasiawith ectopicposteriorpituitarywereseeninPSIS.Allofthepituitaryhyperplasiawerecausedbyhypothyroidism,inwhich MRIshowed anteriorpituitaryenlargement,upwardapophysis,obvioushomogeneousenhancement,nopituitarystalkinterruptionandabnormal signal,andthepituitaryglandreducinginsizeafterreplacementtherapy.Stalkhypophysialwasthickeningtogetherwithadisappearanceof hyperintenseoftheposteriorlobeofpituitaryglandonT1,andthesizeandsignalsofanteriorpituitarywerenormalinpituitarybeing invadedbyLangerhanscellhistiocytosis.AtrophyofanteriorpituitarywasseeninRathkecleftcyst,emptysellasyndrome,sellarregionalarachnoid cystandcraniopharyngioma.Conclusion MRIcanclearlyshowtheanatomyofpituitaryandsellarregion,whichcanprovideamorphological referencefortheearlydiagnosisanddifferentialdiagnosisofGHDinchildrenwithshortstaturecausedbypituitarylesions,andisof clinicallyimportantfortreatmentandprognosis.