Outpatient insulin use in type 2 diabetes mellitus and acute respiratory distress syndrome outcomes:A retrospective cohort study

BACKGROUND The impact of type 2 diabetes mellitus(T2DM)on acute respiratory distress syndrome(ARDS)is debatable.T2DM was suspected to reduce the risk and complications of ARDS.However,during coronavirus disease 2019(COVID-19),T2DM predisposed patients to ARDS,especially those who were on insulin at home.AIMTo evaluate the impact of outpatient insulin use in T2DM patients on non-COVID-19 ARDS outcomes.METHODS We conducted a retrospective cohort analysis using the Nationwide Inpatient Sample database.Adult patients diagnosed with ARDS were stratified into insulin-dependent diabetes mellitus(DM)(IDDM)and non-insulindependent DM(NIDDM)groups.After applying exclusion criteria and matching over 20 variables,we compared cohorts for mortality,duration of mechanical ventilation,incidence of acute kidney injury(AKI),length of stay(LOS),hospitalization costs,and other clinical outcomes.RESULTS Following 1:1 propensity score matching,the analysis included 274 patients in each group.Notably,no statistically significant differences emerged between the IDDM and NIDDM groups in terms of mortality rates(32.8%vs 31.0%,P=0.520),median hospital LOS(10 d,P=0.537),requirement for mechanical ventilation,incidence rates of sepsis,pneumonia or AKI,median total hospitalization costs,or patient disposition upon discharge.CONCLUSION Compared to alternative anti-diabetic medications,outpatient insulin treatment does not appear to exert an independent influence on in-hospital morbidity or mortality in diabetic patients with non-COVID-19 ARDS.

Current Research Status of Traditional Chinese Medicine External Treatment for Diarrhea Type Irritable Bowel Syndrome

Irritable bowel syndrome(IBS-D)with diarrhea is a common gastrointestinal functional disease in clinical practice,which seriously affects the quality of life of patients.Cur‐rently,Western medicine has poor therapeutic effects,while traditional Chinese medi‐cine has unique advantages in relieving IBS-D symptoms and preventing recurrence.In recent years,especially with external treatment of traditional Chinese medicine,it has become a new treatment direction in clinical practice and has achieved good therapeutic effects.This article will provide a review of recent research on the treatment of IBS-D using traditional Chinese medicine external treatment methods.

Exogenous insulin autoimmune syndrome:A case report and review of literature

BACKGROUND Insulin autoimmune syndrome(IAS)is a severe manifestation of spontaneous hypoglycemia.It is characterized by elevated levels of immune-reactive insulin and highly potent insulin autoantibodies(IAAs),which are induced by endogenous insulin circulating in the bloodstream.It is distinguished by recurring instances of spontaneous hypoglycemia,the presence of IAA within the body,a substantial elevation in serum insulin levels,and an absence of prior exogenous insulin administration.Nevertheless,recent studies show that both conventional insulin and its analogs can induce IAS episodes,giving rise to the notion of nonclassical IAS.Therefore,more attention should be paid to these diseases.CASE SUMMARY In this case report,we present a rare case of non-classical IAS in an 83-year-old male patient who present with symptoms of a psychiatric disorder.Upon symptom onset,the patient exhibited Whipple's triad(including hypoglycemia,blood glucose level less than 2.8 mmol/L during onset,and rapid relief of hypoglycemic symptoms after glucose administration).Concurrently,his serum insulin level was significantly elevated,which contradicted his C-peptide levels.After a comprehensive examination,the patient was diagnosed with exogenous insulin autoimmune syndrome.Considering that the patient had type 2 diabetes mellitus and a history of exogenous insulin use before disease onset,it was presumed that non classical IAS was induced by this condition.The PubMed database was used to search for previous cases of IAS and non-classical IAS to analyze their characteristics and treatment approaches.CONCLUSION The occurrence of non-classical IAS is associated with exogenous insulin or its analogs,as well as with sulfhydryl drugs.Symptoms can be effectively alleviated through the discontinuation of relevant medications,administration of hormones or immunosuppressants,plasma exchange,and lifestyle adjustments.

Assessing the impact of concurrent high-fructose and highsaturated fat diets on pediatric metabolic syndrome:A review

High-saturated fat(HF)or high-fructose(HFr)consumption in children predispose them to metabolic syndrome(MetS).In rodent models of MetS,diets containing individually HF or HFr lead to a variable degree of MetS.Nevertheless,simultaneous intake of HF plus HFr have synergistic effects,worsening MetS outcomes.In children,the effects of HF or HFr intake usually have been addressed individually.Therefore,we have reviewed the outcomes of HF or HFr diets in children,and we compare them with the effects reported in rodents.In humans,HFr intake causes increased lipogenesis,hypertriglyceridemia,obesity and insulin resistance.On the other hand,HF diets promote low grade-inflammation,obesity,insulin resistance.Despite the deleterious effects of simultaneous HF plus HFr intake on MetS development in rodents,there is little information about the combined effects of HF plus HFr intake in children.The aim of this review is to warn about this issue,as individually addressing the effects produced by HF or HFr may underestimate the severity of the outcomes of Western diet intake in the pediatric population.We consider that this is an alarming issue that needs to be assessed,as the simultaneous intake of HF plus HFr is common on fast food menus.

Prevalence of Metabolic Syndrome in People with Type 2 Diabetes in Romania

Metabolic syndrome (MetS) has been and remains a highly controversial topic. There is a close association of (MetS) with a group of symptoms associated with diseases of the heart, blood vessels, arteries, and accelerated aging. To find out and discover whether the distribution of these associations or the totals of (MetS) components differ from one gender to another or from one ethnicity to another, 110 subjects were selected as a sample at the National Institute of Diabetes, Nutrition and Metabolic Diseases (N.C.Paulescu) In Bucharest, 110 subjects in divided between 47 Males, 63 females with an age range of 54 years for age groups 35 - 65 years. The pathological conditions in the present study were divided into 2 groups: G1: Patients who have metabolic syndrome. G2: Patients without metabolic syndrome. This study, therefore, aims to diagnose metabolic syndrome according to the criteria approved by ATP III (MetS), also known as insulin resistance syndrome or Syndrome X, which is defined as (a group of several conditions that together increase a person’s risk of developing diabetes and increased heart disease), a disease that is achieved by the presence of 3 or more than 5 components that are considered as parameters or directories (MetS);such as “High level of obesity;High triglyceride levels;High blood sugar level;Decrease in HDL, or good cholesterol and High blood pressure,” but not in a condition in which the person has blood pressure. To achieve this goal, a sample of 110 subjects was selected. An increase in the number of patients with metabolic syndrome at a rate of prevalence (71.1%) of type II Diabetes Patients is among those 110 diabetes patients. Especially among the large age groups, by approximately 55%, Metabolic syndrome was diagnosed in 81 patients, and an apparent increase in the number of female patients with metabolic syndrome (44 females, 37 men). Results have also shown that the metabolic syndrome criterions evolved intrinsically among type 2 diabetes patients with high blood pressure as the highest incidence (79.01%). In contrast, the low level of the high-density lipoprotein had come as the minimal incidence (38.39%). The finding confirmed in this study the data indicates that (MetS) is expected in the category of patients with type 2 diabetes, with an estimated rate of up to 70%. In general, and for people with diabetes in particular, new lifestyles and new health interventions must be followed regarding type 2 diabetes in Romania and the world at large in order to stop or neutralize the burdens, complications, and risk of heart disease in patients with diabetes.

Probiotics supplementation for management of type Ⅱ diabetes risk factors in adults with polycystic ovarian syndrome: a meta-analysis of randomized clinical trial

This meta-analysis of randomized controlled trials aimed to evaluate the effects of probiotic supplementation on glucose homeostasis in patients with polycystic ovary syndrome(PCOS).The meta-analysis was performed in accordance with the Cochrane Handbook guidelines and relevant the preferred reporting items for systematic reviews and meta-analyses(PRISMA)statement criteria.Of 825 identified reports,11 randomized clinical trials were included in the meta-analysis.An analysis of pooled extracted data revealed that supplementation with probiotics significantly decreased fasting blood glucose(FBG,n=7;standardized mean difference(SMD)=−0.40;95%confidence interval(CI):−2.02,−0.02;P=0.04)and insulin levels(n=6;SMD=−0.57;95%CI:−0.89,−0.25;P=0.0004)and the homeostatic model assessment of insulin resistance(n=7;SMD=−0.64;95%CI:−0.96,−0.31;P=0.0001)while increasing the quantitative insulin sensitivity check index(QUICKI,n=5;SMD=0.58;95%CI:0.08,1.09;P=0.02)in patients with PCOS.The FBG-reducing effect decreased as the baseline body mass index(BMI)and mean age of the participants increased.Indeed,a greater number of bacterial species and a higher bacterial dose were shown to reduce QUICKI effectively.The systematic review indicated that probiotic supplementation may help to control glucose homeostasis in adults with polycystic ovarian syndrome.

Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances:A case report

BACKGROUND Hypoparathyroidism,which can be sporadic or a component of an inherited syndrome,is the most common cause of hypocalcemia.If hypocalcemia is accompanied by other electrolyte disturbances,such as hypokalemia and hypomagnesemia,then the cause,such as renal tubular disease,should be carefully identified.CASE SUMMARY An 18-year-old female visited our clinic because of short stature and facial deformities,including typical phenotypes,such as low ear position,depression of the nasal bridge,small hands and feet,and loss of dentition.The lab results suggested normal parathyroid hormone but hypocalcemia.In addition,multiple electrolyte disturbances were found,including hypokalemia,hypocalcemia and hypomagnesemia.The physical signs showed a short fourth metatarsal bone of both feet.The X-ray images showed cortical thickening of long bones and narrowing of the medulla of the lumen.Cranial computed tomography indicated calcification in the bilateral basal ganglia.Finally,the genetic investigation showed a de novo heterogenous mutation of“FAM111A”(c.G1706A:p.R569H).Through a review of previously reported cases,the mutation was found to be the most common mutation site in Kenny-Caffey syndrome type 2(KCS2)cases reported thus far(16/23,69.6%).The mutation was slightly more prevalent in females than in males(11/16,68.8%).Except for hypocalcemia,other clinical manifestations are heterogeneous.CONCLUSION As a rare autosomal dominant genetic disease of hypoparathyroidism,the clinical manifestations of KCS2 are atypical and diverse.This girl presented with short stature,facial deformities and skeletal deformities.The laboratory results revealed hypocalcemia as the main electrolyte disturbance.Even though her family members showed normal phenotypes,gene detection was performed to find the mutation of the FAM111A gene and confirmed the diagnosis of KCS2.

Bilateral carpal tunnel syndrome and motor dysfunction caused by gout and type 2 diabetes:A case report

BACKGROUND Carpal tunnel syndrome(CTS)has been associated with gout and type 2 diabetes mellitus(T2DM).However,due to insufficient clinical understanding of goutrelated CTS and reliance on the diagnostic importance of elevated serum uric acid levels,such cases are prone to missed diagnosis,misdiagnosis,and delayed treatment.In addition,the effect of T2DM on gout-induced carpal tunnel syndrome has not been reported.CASE SUMMARY Herein,we present an unusual case of CTS and motor dysfunction caused by miliary tophaceous gout and T2DM.The patient presented to the hand and foot clinic with paresthesia of the fingers of both hands,especially at night.The patient was diagnosed with type 2 diabetes a month ago.Ultrasonography revealed bilateral transverse carpal ligament thickening with median nerve compression during hospitalization.The patient was successfully treated with carpal tunnel decompression and tendon release.The postoperative pathological examination revealed typical gout nodules.This case suggests that the presence of T2DM could accelerate tophi formation and worsen CTS symptoms,although no definitive proof in this regard has been described previously.CONCLUSION Tophi formation may most likely cause the co-occurrence of CTS and flexor dysfunction in gout and incipient diabetes patients.

Aicardi-Goutières syndrome type 7 in a Chinese child:A case report

BACKGROUND IFIH1 is a protein-coding gene.Disorders associated with IFIH1 include Aicardi-Goutières syndrome(AGS)type 7 and Singleton-Merten syndrome type 1.Related pathways include RIG-I/MDA5-mediated induction of the interferon(IFN)-α/βpathway and the innate immune system.AGS type 7 is an autosomal dominant inflammatory disorder characterized by severe neurological impairment.In infancy,most patients present with psychomotor retardation,axial hypotonia,spasticity,and brain imaging changes Laboratory assessments showed increased IFN-αactivity with upregulation of IFN signaling and IFN-stimulated gene expression.Some patients develop normally in the early stage,and then have episodic neurological deficits.CASE SUMMARY The 5-year-old girl presented with postpartum height and weight growth retardation,language retardation,brain atrophy,convulsions,and growth hormone deficiency.DNA samples were obtained from peripheral blood from the child and her parents for whole-exome sequencing and test of genome-wide copy number variation.Heterozygous mutations in the IFIH1 gene were found.Physical examination at admission found that language development was delayed,the reaction to name calling was average,there was no communication with people,but there was eye contact,no social smile,and no autonomous language.However,the child had rich gesture language and body language,could understand instructions,had bad temper.When she wants to achieve something,she starts crying or shouting.Cardiopulmonary examination showed no obvious abnormality,and abdominal examination was normal.Bilateral muscle strength and muscle tone were symmetrical and slightly decreased.Physiological reflexes exist,but pathological reflexes were not elicited.CONCLUSION We reported the clinical characteristics of a Chinese child with a clinical diagnosis of AGS type 7,which expanded the mutational spectrum of the IFIH1 gene.

Immune checkpoint inhibitor therapy-induced autoimmune polyendocrine syndrome typeⅡand Crohn's disease:A case report

BACKGROUND The development of immune checkpoint inhibitors(ICIs)has heralded a new era in cancer treatment,enabling the possibility of long-term survival in patients with metastatic disease.Unfortunately,ICIs are increasingly implicated in the development of autoimmune diseases.CASE SUMMARY We present a man with squamous cell carcinoma of the oropharynx on a combination of teriprizumab,docetaxel,and cisplatin therapy who developed autoimmune polyendocrine syndrome typeⅡ(APS-2)including thyroiditis and type 1 diabetes mellitus and Crohn’s disease(CD).He developed thirst,abdominal pain,and fatigue after two-week treatment with the protein 1 ligand inhibitor teriprizumab.Biochemistry confirmed APS-2 and thyrotoxicosis.He was commenced on an insulin infusion.However,his abdominal pain persisted.Follow-up surgery confirmed CD and his abdominal pain was relieved by mesalazine.He was continued on insulin and mesalazine therapy.CONCLUSION Immunotherapy can affect all kinds of organs.When clinical symptoms cannot be explained by a single disease,clinicians should consider the possibility of multisystem damage.

Correlation between the Distribution of Traditional Chinese Medicine Syndromes and Molecular Types of Breast Cancer in Perichemotherapy Period

Objectives The objective of this study was to explore the correlation between the distribution of traditional Chinese medicine(TCM)syndromes and molecular types of breast cancer in the perichemotherapy period.Methods A total of 325 cases with perichemotherapy breast cancer was classified according to syndrome differentiation in TCM,and R×C table x2 test was used to examine and analyze the relationship between TCM syndromes and molecular types of breast cancer in the perichemotherapy period.Results(1)In the early stage of chemotherapy,there was no significant difference in the distribution of different TCM syndromes among molecular types,mainly liver depression syndrome and liver depression and phlegm coagulation syndrome(p>0.05).(2)In the middle stage of chemotherapy,there were significant differences in the distribution of spleen deficiency and phlegm-dampness syndrome among HER-2 positive(HR positive),HER-2 positive(HR negative),and Luminal Atype,Luminal B type(HER-2 negative),and triple-negative type(p<0.01).(3)After chemotherapy,there were significant differences in the distribution of spleen and kidney yang deficiency syndrome and marrow sea insufficiency syndrome among HER-2 positive(HR negative),triple-negative type,and HER-2 positive(HR positive),Luminal A type,Luminal B type(HER-2 negative),and triple-negative type(p<0.01).Conclusion(1)In the middle stage of chemotherapy,HER-2 positive(HR positive)and HER-2 positive(HR negative)are more likely to show spleen deficiency and phlegmdampness syndrome than other molecular types.(2)In the late stage of chemotherapy,the HER-2 positive(HR negative)and triple-negative type is more likely to show spleenkidney yang deficiency syndrome than other molecular types,and the triple-negative type is more likely to show marrow sea insufficiency syndrome than other molecular types.

The Relationship between Golgi Protein 73, Alpha-Fetoprotein, Liver Function Indicators, and Traditional Chinese Medicine Syndrome Types of Primary Liver Cancer

Objective Our objective was to analyze the correlation between Golgi protein 73(GP73),alpha-fetoprotein(AFP),liver function indicators,and traditional Chinese medicine(TCM)syndrome types of primary liver cancer(hereinafter referred to as"liver cancer").Methods In total,156 liver cancer patients(liver cancer group)and 52 healthy individuals(health group)were selected as the research subjects to detect their GP73,AFP expression,and liver function-related indicators.The obtained data were statistically analyzed using SPSS 21.0 software.Results(1)The positive expression rate of GP73 in the liver cancer group was 50%;the positive expression rates of qi stagnation and blood stasis syndrome,heat tgxin in liver and galader yndroeand yndefceny flieran kidney yndg1i,%54.3,and 59.6%,respectively.There was no statistically significant difference betwgep the groups(p>0.05),The positive expreion rate of AFP was 50%.he positiy 32.8 expression rates of qi stagnation and blood stasis syndrome,heat-toxin in liyer ane gallbladder syndrome,and yin deficiency of liver and kidney syndrome were 41.7,54.3 an59.6%,respectively.There was a statistically significant difference between the groups(p<0.05).(2)The GP73 levels of patients with different syndrome types in the liver cancer group were ranked from high to low as yin deficiency of liver and ki41.3 syndrome,heat toxin in liver and gallbladder syndrome,and qi stagnation and brooa stasis syndrome.The differences between the groups were statistically significant(p<0.05).The AFP levels of patients with different syndrome types in the liver cancer group were ranked from high to low as heat toxin in liver and gallbladder syndrome,yin deficiency of liver and kidney syndrome,and qi stagnation and blood stasis syndrome.There was no statistically significant difference between the groups(p>0.05).(3)Analysis of liver function indicators in the liver cancer group:the alanine transaminase s(ALT)levels of patients with different syndrome types were in descending order from high to low,including yin deficiency of liver and kidney syndrome,heat toxin in liver and gallbladder syndrome,and qi stagnation and blood stasis syndrome.The differences between groups were statistically significant(p<0.05).The aspartate aminotransferase(AST)levels of patients with different syndrome types were ranked from high to low as follows:heat toxin in liver and gallbladder syndrome,yin deficiency of liver and kidney syndrome,and qi stagnation and blood stasis syndrome.The difference between groups was statistically significant(p<0.05).The levels of albumin(ALB)in patients with different syndrome types were ranked from high to low,including heat toxin in liver and gallbladder syndrome,qi stagnation and blood stasis syndrome,and yin deficiency of liver and kidney syndrome.The differences between groups were statistically significant(p<0.05).Conclusion GP73 and indicators such as ALT,AST,and ALB are of great significance in the diagnosis of TCM syndrome differentiation and classification of liver cancer patients.

Correlation Analysis of Traditional Chinese Medicine Syndrome Types and Influencing Factors of Asthmatic Bronchitis in Children

Objective:To explore the correlation between traditional Chinese medicine(TCM)syndrome types and the influencing factors of asthmatic bronchitis in children,as well as to provide clinical syndrome differentiation basis and reference for the treatment of children with asthmatic bronchitis.Methods:The clinical data of 197 inpatients with asthmatic bronchitis in our hospital from March 2021 to March 2022 were collected,referring to“Zhu Futang Practical Pediatrics”(7th Edition,2002)and“Chinese Medicine Industry Standards-Standards for Diagnosis and Efficacy of Pediatric Diseases and Syndromes of Traditional Chinese Medicine”(1994,State Administration of Traditional Chinese Medicine)for diagnosis,classification,and analysis of TCM syndrome types and the influencing factors of asthmatic bronchitis in children.Results:(i)cold asthma syndrome contributed to the majority of TCM syndrome types of pediatric asthmatic bronchitis;(ii)gender had a great influence on TCM syndromes types in children with asthmatic bronchitis,and the differences among the TCM syndrome types were statistically significant(P<0.05);(iii)there was no significant difference in the distribution of TCM syndrome types of pediatric asthmatic bronchitis among different age groups(P>0.05);(iv)birth status had no effect on the distribution of TCM syndrome types of pediatric asthmatic bronchitis(P>0.05);(v)no significant correlation was observed between the mode of delivery and the distribution of TCM syndrome types in children with asthmatic bronchitis(P>0.05);(vi)children with cold asthma syndrome,heat asthma syndrome,and mixed cold and heat syndrome were not breastfed,and there was no significant difference in the feeding methods of children with mixed deficiency and excess syndrome(P>0.05);(vii)no significant correlation was observed between the TCM syndrome types of pediatric asthmatic bronchitis and family history of asthma/allergy(P>0.05);(viii)a significant correlation was observed between different TCM syndrome types and history of drug and food allergy(P<0.05);(ix)normal or high eosinophil percentage was commonly observed in children with asthmatic bronchitis,and there was no significant difference among the different TCM syndrome types(P>0.05).Conclusion:The TCM syndrome types of pediatric asthmatic bronchitis are related to gender,feeding history,allergy history,and other factors,which may be influencing factors of the TCM syndrome types of pediatric asthmatic bronchitis.

Relationship between Traditional Chinese Medicine Syndrome Type and Coronary Arteriography of Acute Coronary Syndrome

Objective: To explore the relationship of Traditional Chinese Medicine (TCM) Syndrome type and coronary arteriography (CAG) with respect to the number and degree of stenosed branches of coronary artery (CA) and ACC/AHA stage of acute coronary syndrome (ACS), to provide an objective evidence for TCM Syndrome typing on ACS Methods: Ninety patients of ACS with their TCM Syndrome typing and CAG successfully conducted were enrolled in this study. They were classified into 3 Syndrome types, the blood stasis type (type I ), the phlegm stagnant with blood stasis type (type II ),and the endogenous collateral Wind type (type III) The scores of the number and severity of the stenosis branch of CA and ACC/AHA lesion stage in different Syndrome types were calculated respectively and analysed statistically by Ridit analysis. Results: The number of stenosed branches increased gradually with the Syndrome type changing from I -II-III, compared the type III with the other two types(P<0. 01). The severity of stenosis in type I and II were similar, but that of Type III, much aggravated was significantly different from that in the former two (P<0. 01) . The ACC/AHA stage of coronary lesion tended to be more complex as the Syndrome type changed, patients of TCM type I and II had mostly lesion of stage A or Bl , while lesion in majority of patients of type III belonged to stage B2 or C, comparison between the three types showed significant difference (P<0.01). Conclusion: Most ACS patients of TCM Syndrome type III with tri-branch, severe stenosed coronary arteries, belong to the complex ACC/AHA stage of B2 and C.

Role of peroxisome proliferator-activated receptors gene polymorphisms in type 2 diabetes and metabolic syndrome

Metabolic syndrome(MetS) and type 2 diabetes mellitus(T2DM) are the serious public health problems worldwide.Moreover,it is estimated that MetS patients have about five-fold greater risk of the T2 DM development compared with people without the syndrome.Peroxisome proliferator-activated receptors are a subgroup of the nuclear hormone receptor superfamily of ligand-activated transcription factors which play an important role in the pathogenesis of MetS and T2 DM.All three members of the peroxisome proliferator-activated receptor(PPAR) nuclear receptor subfamily,PPARα,PPARp/5 and PPARγ are critical in regulating insulin sensitivity,adipogenesis,lipid metabolism,and blood pressure.Recently,more and more studies indicated that the gene polymorphism of PPARs,such as Leu^(162)Val and Val^(227)Ala of PPARα,+294T> C of PPARβ/δ,Pro^(12)Ala and C1431 T of PPARγ,are significantly associated with the onset and progressing of MetS and T2 DM in different population worldwide.Furthermore,a large body of evidence demonstrated that the glucose metabolism and lipid metabolism were influenced by gene-gene interaction among PPARs genes.However,given the complexity pathogenesis of metabolic disease,it is unlikely that genetic variation of a single locus would provide an adequate explanation of inter-individual differences which results in diverse clinical syndromes.Thus,gene-gene interactions and gene-environment interactions associated with T2 DM and MetS need future comprehensive studies.

Type 1 diabetes and polyglandular autoimmune syndrome: A review

Type 1 diabetes(T1D) is an autoimmune disorder caused by inflammatory destruction of the pancreatic tissue. The etiopathogenesis and characteristics of the pathologic process of pancreatic destruction are well described. In addition, the putative susceptibility genes for T1 D as a monoglandular disease and the relation to polyglandular autoimmune syndrome(PAS) have also been wellexplored. The incidence of T1 D has steadily increased in most parts of the world, especially in industrialized nations. T1 D is frequently associated with autoimmune endocrine and non-endocrine diseases and patients with T1 D are at a higher risk for developing several glandular autoimmune diseases. Familial clustering is observed, which suggests that there is a genetic predisposition. Various hypotheses pertaining to viral- and bacterialinduced pancreatic autoimmunity have been proposed, however a definitive delineation of the autoimmune pathomechanism is still lacking. In patients with PAS, pancreatic and endocrine autoantigens either colocalize on one antigen-presenting cell or are expressed on two/various target cells sharing a common amino acid, which facilitates binding to and activation of T cells. The most prevalent PAS phenotype is the adult type 3 variant or PAS type Ⅲ, which encompasses T1 D and autoimmune thyroid disease. This review discusses the findings of recent studies showing noticeable differences in the genetic background and clinical phenotype of T1 D either as an isolated autoimmune endocrinopathy or within the scope of polyglandular autoimmune syndrome.

Biliary tree gastrinomas in multiple endocrine neoplasia type 1 syndrome

AIM:To describe our patients affected with ectopic biliary tree gastrinoma and review the literature on this topic.METHODS:Between January 1992 and June 2012,28 patients affected by duodenopancreatic endocrine tumors in multiple endocrine neoplasia type 1(MEN1)syndrome underwent surgery at our institution.This retrospective review article analyzes our experience regarding seventeen of these patients subjected to duodenopancreatic surgery for Zollinger-Ellison syndrome(ZES).Surgical treatment consisted of duodenopancreatectomy(DP)or total pancreatectomy(TP).Regional lymphadenectomy was always performed.Any hepatic tumoral lesions found were removed during surgery.In MEN1 patients,removal of duodenal lesions can sometimes lead to persistence or recurrence of hypergastrinemia.One possible explanation for this unfavorable outcome could be unrecognized ectopic localization of gastrin-secreting tumors.This study described three cases among the seventeen patients who were found to have an ectopic gastrinoma located in the biliary tree.RESULTS:Seventeen MEN1 patients affected with ZES were analyzed.The mean age was 40 years.Fifteen patients underwent DP and two TP.On histopathological examination,duodeno pancreatic endocrine tumors were found in all 17 patients.Eighty-one gastrinomas were detected in the first three portions of the duodenum.Only one gastrinoma was found in the pancreas.The mean number of gastrinomas per patient was 5(range 1-16).Malignancy was established in 12 patients(70.5%)after lymph node,liver and omental metastases were found.Three patients exhibited biliary tree gastrinomas as well as duodenal gastrinoma(s).In two cases,the ectopic gastrinoma was removed at the same time as pancreatic surgery,while in the third case,the biliary tree gastrinoma was resected one year after DP because of recurrence of ZES.CONCLUSION:These findings suggest the importance of checking for the presence of ectopic gastrinomas in the biliary tree in MEN1 patients undergoing ZES surgery.

The heterozygous EDNRB mutation in a Chinese family with Waardenburg syndrome type Ⅰ

The genovariation of endothelin receptor type B(EDNRB) was identified in a Chinese family with Waardenburg syndrome type I(WS1) in the present study. WS1 was diagnosed in a 19-year-old young man, his older sister and aunt according to WS consortium criteria. After extracting genomic DNA from the peripheral blood samples, the coding exons and intronic regions of EDNRB were sequenced. A missense heterozygous mutation was found in the coding region of exon 2 in the EDNRB gene on chormosome 13 q22.3 of the proband. The same mutation was detected in the proband’s afflicted paternal aunt and first older sister. Subsequent polyphen analysis and three-dimensional modeling confirmed that the c.469 A>G heterozygous mutation in EDNRB was possibly pathogenic. This is the first report of EDNRB mutation as a potential disease-causing mutation in Chinese patients with WS1.

Effect of Modified Sinisan (四逆散) on Anorectal Manometry of the Constipation Predominant Type of Irritable Bowel Syndrome

Objective: To explore the mechanism in patients with irritable bowel syndrome (IBS) of the constipation predominant type and observe the therapeutic effects of Sinisan (四逆散, SNS). Methods: Forty -seven IBS patients with the constipation predominant type were randomly divided into the treated group ( n =24) and the control group ( n =23). Another group of 22 healthy subjects was set up for healthy control. The treated group was treated with modified SNS, and the control group was treated with Cisapride, the therapeutic course for both groups was 8 weeks. The changes of symptom scoring and anorectal manometry (the anorectal resting pressure, anal tract systolic pressure, anal tract diastolic pressure, rectal threshold feeling, maximal tolerance volume of rectum, and rectum compliance) of these two groups were recorded respectively and compared with each other. Results: Compared with the healthy control group, the rectal threshold feeling, maximal tolerance volume of rectum and rectal compliance of the treated groups got reduced significantly before treatment ( P <0.05). After treatment, the symptom scoring, rectal threshold feeling and maximal tolerance volume of rectum were improved in both groups ( P <0.05), and the improvement of the treated group was more significant than that of the control group( P <0.01). The total effective rate and recurrence rate of the treated group were superior to those of the control group significantly ( P <0.05, P <0.01).Conclusion: SNS has good effect on IBS of the constipation predominant type.

Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients

BACKGROUND Peutz-Jeghers syndrome(PJS) is an autosomal dominant genetic disease with skin mucosal pigment spots and gastrointestinal(GI) multiple hamartoma polyps as clinical characteristics. At present, it is considered that the germline mutation of STK11 gene is the genetic cause of PJS. However, not all PJS patients can be detected STK11 germline mutations. The specific clinical characteristics of these PJS patients without STK11 mutation is an interesting clinical question. Or, like wild type GI stromal tumor, whether these PJS without STK11 mutation are also called PJS is worth discussing. Therefore, we designed the study to understand the clinical characteristics of these PJS patients without STK11 mutation.AIM To investigates whether PJS patients with known STK11 mutations have a more severe spectrum of clinical phenotypes compared to those without.METHODS A total of 92 patients with PJS admitted to the Air Force Medical Center from 2010 to 2022 were randomly selected for study. Genomic DNA samples were extracted from peripheral blood samples, and pathogenic germline mutations of STK11 were detected by high-throughput next-generation gene sequencing. Clinicalpathologic manifestations of patients with and without STK11/LKB1 mutations were compared.RESULTS STK11 germline mutations were observed in 73 patients with PJS. Among 19 patients with no detectable STK11 mutations, six had no pathogenic germline mutations of other genes, while 13 had other genetic mutations. Compared with PJS patients with STK11 mutations, those without tended to be older at the age of initial treatment, age of first intussusception and age of initial surgery. They also had a lower number of total hospitalizations relating to intussusception or intestinal obstruction, and a lower load of small intestine polyps.CONCLUSION PJS patients without STK11 mutations might have less severe clinical-pathologic manifestations than those with.