BACKGROUND Afferent loop syndrome(ALS)is a rare complication,Aoki et al reported that the incidence of distal gastrectomy in Billroth-II is 0.3%-1.0%.The clinical manifest-ations of ALS are atypical,which can manifest...BACKGROUND Afferent loop syndrome(ALS)is a rare complication,Aoki et al reported that the incidence of distal gastrectomy in Billroth-II is 0.3%-1.0%.The clinical manifest-ations of ALS are atypical,which can manifest as severe abdominal pain,vomiting,obstructive jaundice,malnutrition,etc.CASE SUMMARY The patient was a 58-year-old man who complained of recurrent high fever for more than 1 week.Laboratory tests showed an increase in neutrophil ratio,procal-citonin,C-reactive protein,and abnormal liver function.Enhanced computed tomography scan of the abdomen showed small intestinal obstruction between the anastomosis of the gastrojejunum,bile duct,and pancreaticoduodenum.Gastroscopy revealed significant narrowing of the lumen 15 cm from the anasto-mosis into the afferent loop.After performing balloon dilation and placement of the nutrition tube,the patient did not experience further fever.CONCLUSION ALS is relatively rare after pancreaticoduodenectomy,and the treatment depends on the nature of the obstructive lesion.The traditional treatment method is surgery,and in recent years,endoscopy has provided a new treatment method for ALS.展开更多
A 34-year-old Han Chinese woman,22+4 weeks pregnant,presented to the hospital on September 21,2022,with a fever lasting over 10 hours.Her body temperature was 38.4℃,and blood tests indicated elevated markers of infec...A 34-year-old Han Chinese woman,22+4 weeks pregnant,presented to the hospital on September 21,2022,with a fever lasting over 10 hours.Her body temperature was 38.4℃,and blood tests indicated elevated markers of infection.However,there were no symptoms of other systemic infections.She was admitted with the diagnosis of“unexplained fever during mid-pregnancy.”Patient’s consent to publish the clinical information in the article was obtained.The patient had a history of three spontaneous abortions and one fetal abruption,all accompanied by unexplained infections and high fever before and after each pregnancy loss(Supplementary Table 1,http://links.lww.com/MFM/A65).Two prior hysteroscopies revealed no abnormalities.In 2020,laparoscopic transabdominal cervical cerclage was performed due to recurrent pregnancy loss.During early pregnancy,all infection indicators,immune screening,and cultures were normal.Upon admission,anti-infective treatment was initiated,and various systematic screenings and cultures were repeated to identify the source of infection.Despite treatment,her body temperature remained above 38℃ after two days(Supplementary Fig.1,http://links.lww.com/MFM/A65),infection markers progressively increased,and frequent uterine contractions were observed.Consequently,the cervical cerclage was removed.展开更多
Background The nucleotide-binding oligomerization domain-like receptor protein 12(NLRP12)-autoinflammatory disorder(NLRP12-AD)is a rare autoinflammatory disease characterized by recurrent fever,rash as well as musculo...Background The nucleotide-binding oligomerization domain-like receptor protein 12(NLRP12)-autoinflammatory disorder(NLRP12-AD)is a rare autoinflammatory disease characterized by recurrent fever,rash as well as musculoskeletal symptoms,which is rarely reported in Asian populations.Methods Three cases of NLRP12-AD presented to our hospital were studied after parental consents were obtained.Clinical presentations were recorded on a standardized case report form.Mutations of NLRP12 were detected by primary immunodeficiency disease panels and further examined by Sanger sequencing.PubMed literature search for relevant studies of systemic autoinflammatory disorders,especially NLRP12-AD between January,2000 and January,2019 was carried and the clinical data were summarized.Comparisons were made between groups in terms of onset age and of ethnicity.Results All our patients presented with fever,rash and arthritis/arthralgia,and sensorineural as well as sensorineural deafness(1/3),uveitis(1/3),abdominal pain(1/3),and myalgia(1/3).Two novel mutation variations,p.W581X and p.L558R,are reported here.In addition,we also found that two patients inherited the mutated alleles from their healthy parents,and this may be evidence of haploinsutficiency.Conclusions Although the genotypes are similar,the clinical manifestations between Chinese patients and Western patients vary thus highlighting the possible influence of ethnic and environmental factors.On the other hand,some genetic mutations may lead to specific phenotype,as we have found a high prevalence of sensorineural hearing loss among p.R284X patients.展开更多
Periodic fever,aphthous stomatitis,pharyngitis,and adenitis(PFAPA)syndrome is the most common periodic fever condition in children,with most cases appearing by the age of 5.Although PFAPA is generally a self-limited c...Periodic fever,aphthous stomatitis,pharyngitis,and adenitis(PFAPA)syndrome is the most common periodic fever condition in children,with most cases appearing by the age of 5.Although PFAPA is generally a self-limited condition,it can have a major impact on a child’s quality of life,as well as that of their family.Recent research has continued to shed light on the genetic and immunologic factors that play a role in the pathogenesis of PFAPA.There also exists significant heterogeneity in treatment strategies,and progress has been made to develop evidence-based management strategies and establish a standard of care.This review will outline current knowledge regarding the pathogenesis of PFAPA,as well as treatment strategies and our clinical experience.展开更多
文摘BACKGROUND Afferent loop syndrome(ALS)is a rare complication,Aoki et al reported that the incidence of distal gastrectomy in Billroth-II is 0.3%-1.0%.The clinical manifest-ations of ALS are atypical,which can manifest as severe abdominal pain,vomiting,obstructive jaundice,malnutrition,etc.CASE SUMMARY The patient was a 58-year-old man who complained of recurrent high fever for more than 1 week.Laboratory tests showed an increase in neutrophil ratio,procal-citonin,C-reactive protein,and abnormal liver function.Enhanced computed tomography scan of the abdomen showed small intestinal obstruction between the anastomosis of the gastrojejunum,bile duct,and pancreaticoduodenum.Gastroscopy revealed significant narrowing of the lumen 15 cm from the anasto-mosis into the afferent loop.After performing balloon dilation and placement of the nutrition tube,the patient did not experience further fever.CONCLUSION ALS is relatively rare after pancreaticoduodenectomy,and the treatment depends on the nature of the obstructive lesion.The traditional treatment method is surgery,and in recent years,endoscopy has provided a new treatment method for ALS.
文摘A 34-year-old Han Chinese woman,22+4 weeks pregnant,presented to the hospital on September 21,2022,with a fever lasting over 10 hours.Her body temperature was 38.4℃,and blood tests indicated elevated markers of infection.However,there were no symptoms of other systemic infections.She was admitted with the diagnosis of“unexplained fever during mid-pregnancy.”Patient’s consent to publish the clinical information in the article was obtained.The patient had a history of three spontaneous abortions and one fetal abruption,all accompanied by unexplained infections and high fever before and after each pregnancy loss(Supplementary Table 1,http://links.lww.com/MFM/A65).Two prior hysteroscopies revealed no abnormalities.In 2020,laparoscopic transabdominal cervical cerclage was performed due to recurrent pregnancy loss.During early pregnancy,all infection indicators,immune screening,and cultures were normal.Upon admission,anti-infective treatment was initiated,and various systematic screenings and cultures were repeated to identify the source of infection.Despite treatment,her body temperature remained above 38℃ after two days(Supplementary Fig.1,http://links.lww.com/MFM/A65),infection markers progressively increased,and frequent uterine contractions were observed.Consequently,the cervical cerclage was removed.
基金This study was supported by Beijing Association for Golden Bridge Engineering Seed Found of Beijing Association for Science and Technology(JQ17032)the Capital Health Research and Development of Special(2016-2-40114),CAMS Initiative for Innovative Medicine(2016-I2M-1-008),CAMS Central Public Welfare Scientific Research Institute Basal Research Expenses to HW(2016ZX310182-1),and Public Welfare Scientific Research Project of China(201402012).
文摘Background The nucleotide-binding oligomerization domain-like receptor protein 12(NLRP12)-autoinflammatory disorder(NLRP12-AD)is a rare autoinflammatory disease characterized by recurrent fever,rash as well as musculoskeletal symptoms,which is rarely reported in Asian populations.Methods Three cases of NLRP12-AD presented to our hospital were studied after parental consents were obtained.Clinical presentations were recorded on a standardized case report form.Mutations of NLRP12 were detected by primary immunodeficiency disease panels and further examined by Sanger sequencing.PubMed literature search for relevant studies of systemic autoinflammatory disorders,especially NLRP12-AD between January,2000 and January,2019 was carried and the clinical data were summarized.Comparisons were made between groups in terms of onset age and of ethnicity.Results All our patients presented with fever,rash and arthritis/arthralgia,and sensorineural as well as sensorineural deafness(1/3),uveitis(1/3),abdominal pain(1/3),and myalgia(1/3).Two novel mutation variations,p.W581X and p.L558R,are reported here.In addition,we also found that two patients inherited the mutated alleles from their healthy parents,and this may be evidence of haploinsutficiency.Conclusions Although the genotypes are similar,the clinical manifestations between Chinese patients and Western patients vary thus highlighting the possible influence of ethnic and environmental factors.On the other hand,some genetic mutations may lead to specific phenotype,as we have found a high prevalence of sensorineural hearing loss among p.R284X patients.
文摘Periodic fever,aphthous stomatitis,pharyngitis,and adenitis(PFAPA)syndrome is the most common periodic fever condition in children,with most cases appearing by the age of 5.Although PFAPA is generally a self-limited condition,it can have a major impact on a child’s quality of life,as well as that of their family.Recent research has continued to shed light on the genetic and immunologic factors that play a role in the pathogenesis of PFAPA.There also exists significant heterogeneity in treatment strategies,and progress has been made to develop evidence-based management strategies and establish a standard of care.This review will outline current knowledge regarding the pathogenesis of PFAPA,as well as treatment strategies and our clinical experience.
