BACKGROUND Littoral cell angioma(LCA)is a rare benign vascular tumor of the spleen.Given its rarity,standard diagnostic and therapeutic recommendations have yet to be developed for reported cases.Splenectomy is the on...BACKGROUND Littoral cell angioma(LCA)is a rare benign vascular tumor of the spleen.Given its rarity,standard diagnostic and therapeutic recommendations have yet to be developed for reported cases.Splenectomy is the only method of obtaining a pathological diagnosis and providing treatment to obtain a favorable prognosis.CASE SUMMARY A 33-year-old female presented with abdominal pain for one month.Computed tomography and ultrasound revealed splenomegaly with multiple lesions and two accessory spleens.The patient underwent laparoscopic total splenectomy and accessory splenectomy,and splenic LCA was confirmed by pathology.Four months after surgery,the patient presented with acute liver failure,was readmitted,rapidly progressed to multiple organ dysfunction syndrome and died.CONCLUSION Preoperative diagnosis of LCA is challenging.We systematically reviewed online databases to identify the relevant literature and found a close relationship between malignancy and immunodysregulation.When a patient suffers from both splenic tumors and malignancy or immune-related disease,LCA is possible.Due to potential malignancy,total splenectomy(including accessory spleen)and regular follow-up after surgery are recommended.If LCA is diagnosed after surgery,a comprehensive postoperative examination is needed.展开更多
In the last two decades two new paradigms changed our way of perceiving primary immunodeficiencies:An increasing number of immune defects are more associated with inflammatory or autoimmune features rather than with i...In the last two decades two new paradigms changed our way of perceiving primary immunodeficiencies:An increasing number of immune defects are more associated with inflammatory or autoimmune features rather than with infections.Some primary immune defects are due to hyperactive pathways that can be targeted by specific inhibitors,providing innovative precision treatments that can change the natural history of diseases.In this article we review some of these“druggable”inborn errors of immunity and describe how they can be suspected and diagnosed in diverse pediatric and adult medicine specialties.Since the availability of precision treatments can dramatically impact the course of these diseases,preventing the development of organ damage,it is crucial to widen the awareness of these conditions and to provide practical hints for a prompt detection and cure.展开更多
Introduction Acute liver failure(ALF)is an uncommon disease in pediatric cases.Etiology includes infections,autoimmune diseases,inborn errors of metabolism,and intoxications.Metabolic disorders account for 25%of resol...Introduction Acute liver failure(ALF)is an uncommon disease in pediatric cases.Etiology includes infections,autoimmune diseases,inborn errors of metabolism,and intoxications.Metabolic disorders account for 25%of resolved cases.However,the etiology remains unknown in half of pediatric ALF[1].The recognition of molecular etiopathogenesis has been facilitated after the common use of next-generation sequencing techniques.Recently,biallelic variants in neuroblastoma-amplified sequence(NBAS),Leucyl-tRNA synthetase 1(LARS1),and RAD50-interacting protein(RINT1)were identified in recurrent ALF(RALF)[2–4].展开更多
基金Supported by the National Natural Science Foundation of China,No.81972230Hubei Technological Innovation Special Fund(CN),No.CXPJJH11800004-004,No.CXPJJH122002-063,and No.CXPJJH122002-092+6 种基金University Nursing Program for Young Scholar with Creative Talents in Heilongjiang Province,No.UNPYSCT-2017064Postdoctoral Foundation of Hei Long Jiang Province,No.LBH-Z20196 and No.LBH-Z20178China Postdoctoral Science Foundation,No.2021MD703835Wu Jie-Ping Medical Foundation,No.320.6750.2021-23-22Open Fund of Key Laboratory of Hepatosplenic Surgery,Ministery of Education,Harbin,China,No.GPKF202204Excellent Youth Science Fund of the First Hopital of Harbin Medical University,No.2021Y01Scientifc Foundation of the First Afliated Hospital of Harbin Medical University,No.2021B03。
文摘BACKGROUND Littoral cell angioma(LCA)is a rare benign vascular tumor of the spleen.Given its rarity,standard diagnostic and therapeutic recommendations have yet to be developed for reported cases.Splenectomy is the only method of obtaining a pathological diagnosis and providing treatment to obtain a favorable prognosis.CASE SUMMARY A 33-year-old female presented with abdominal pain for one month.Computed tomography and ultrasound revealed splenomegaly with multiple lesions and two accessory spleens.The patient underwent laparoscopic total splenectomy and accessory splenectomy,and splenic LCA was confirmed by pathology.Four months after surgery,the patient presented with acute liver failure,was readmitted,rapidly progressed to multiple organ dysfunction syndrome and died.CONCLUSION Preoperative diagnosis of LCA is challenging.We systematically reviewed online databases to identify the relevant literature and found a close relationship between malignancy and immunodysregulation.When a patient suffers from both splenic tumors and malignancy or immune-related disease,LCA is possible.Due to potential malignancy,total splenectomy(including accessory spleen)and regular follow-up after surgery are recommended.If LCA is diagnosed after surgery,a comprehensive postoperative examination is needed.
基金Supported by the Italian Ministry of Health RF-2016-02362384the IRCCS Burlo GarofoloNo. RC 24/17
文摘In the last two decades two new paradigms changed our way of perceiving primary immunodeficiencies:An increasing number of immune defects are more associated with inflammatory or autoimmune features rather than with infections.Some primary immune defects are due to hyperactive pathways that can be targeted by specific inhibitors,providing innovative precision treatments that can change the natural history of diseases.In this article we review some of these“druggable”inborn errors of immunity and describe how they can be suspected and diagnosed in diverse pediatric and adult medicine specialties.Since the availability of precision treatments can dramatically impact the course of these diseases,preventing the development of organ damage,it is crucial to widen the awareness of these conditions and to provide practical hints for a prompt detection and cure.
文摘Introduction Acute liver failure(ALF)is an uncommon disease in pediatric cases.Etiology includes infections,autoimmune diseases,inborn errors of metabolism,and intoxications.Metabolic disorders account for 25%of resolved cases.However,the etiology remains unknown in half of pediatric ALF[1].The recognition of molecular etiopathogenesis has been facilitated after the common use of next-generation sequencing techniques.Recently,biallelic variants in neuroblastoma-amplified sequence(NBAS),Leucyl-tRNA synthetase 1(LARS1),and RAD50-interacting protein(RINT1)were identified in recurrent ALF(RALF)[2–4].
