BACKGROUND Progressive familial intrahepatic cholestasis type 1(PFIC-1)is a genetic cholestatic disease causing end-stage liver disease,which needs liver transplantation(LT).Simultaneous biliary diversion(BD)was recom...BACKGROUND Progressive familial intrahepatic cholestasis type 1(PFIC-1)is a genetic cholestatic disease causing end-stage liver disease,which needs liver transplantation(LT).Simultaneous biliary diversion(BD)was recommended to prevent allograft steatosis after transplantation,while increasing the risk of infection.Here,an attempt was made to perform BD using appendix to prevent bacterial translocation after LT.CASE SUMMARY An 11-month-old boy diagnosed with PFIC-1 received ABO compatible living donor LT due to refractory jaundice and pruritus.His mother donated her left lateral segment with a graft-to-recipient weight ratio of 2.9%.Internal BD was constructed during LT using the appendix by connecting its proximal end with the intrahepatic biliary duct and the distal end with colon.Biliary leakage was suspected on the 5th day after transplantation and exploratory laparotomy indicated biliary leakage at the cutting surface of liver.The liver function returned to normal on the 9th day post-operation and maintained normal during the 15-month follow-up.Cholangiography at 10 months after transplantation confirmed the direct secretion of bile into colon.Computerized tomography scan(4 months and 10 months)and liver biopsy(10 months)indicated no steatosis in the allograft.No complaint of recurrent diarrhea,infection or growth retardation was reported during follow-up.CONCLUSION Internal BD using appendix during LT is effective in preventing allograft steatosis and post-transplant infection in PFIC-1 recipients.展开更多
This article reviews a paper in the World Journal of Diabetes.The study uncovers the link between PPARG gene mutations and metabolic disorders,such as insulin resistance,diabetes,and hypertriglyceridemia,and emphasize...This article reviews a paper in the World Journal of Diabetes.The study uncovers the link between PPARG gene mutations and metabolic disorders,such as insulin resistance,diabetes,and hypertriglyceridemia,and emphasizes the crucial role of genetic testing in precise diagnosis and personalized treatment.This article further points out that in-depth investigation into the clinical heterogeneity of PPARG mutations and their underlying mechanisms can contribute to optimizing management strategies.Meanwhile,the development of more effective targeted therapies and the conduct of extensive genomic research are of great significance for understanding familial partial lipodystrophy type 3 and related metabolic syndromes.展开更多
BACKGROUND Mutations that occur in the ABCB4 gene,which encodes multidrug-resistant protein 3,underlie the occurrence of progressive familial intrahepatic cholestasis type 3(PFIC3).Clinical signs of intrahepatic chole...BACKGROUND Mutations that occur in the ABCB4 gene,which encodes multidrug-resistant protein 3,underlie the occurrence of progressive familial intrahepatic cholestasis type 3(PFIC3).Clinical signs of intrahepatic cholestasis due to gene mutations typically first appear during infancy or childhood.Reports of PFIC3 occurring in adults are rare.CASE SUMMARY This is a case study of a 32-year-old infertile female Chinese patient with a 15-year history of recurrent abnormal liver function.Her primary clinical signs were elevated levels of alkaline phosphatase andγ-glutamyl transpeptidase.Other possible reasons for liver dysfunction were eliminated in this patient,resulting in a diagnosis of PFIC3.The diagnosis was confirmed using gene detection and histological analyses.Assessments using genetic sequencing analysis indicated the presence of two novel heterozygous mutations in the ABCB4 gene,namely,a 2950C>T;p.A984V mutation(exon 24)and a 667A>G;p.I223V mutation(exon 7).After receiving ursodeoxycholic acid(UDCA)treatment,the patient's liver function indices improved,and she successfully became pregnant by in vitro fertilization.However,the patient developed intrahepatic cholestasis of pregnancy in the first trimester.Fortunately,treatment with UDCA was safe and effective.CONCLUSION These novel ABCB4 heterozygous mutations have a variety of clinical phenotypes.Continued follow-up is essential for a comprehensive understanding of PFIC3.展开更多
Progressive familial intrahepatic cholestasis type 1 is a rare disease that is characterized by low serum γ-glutamyltransferase levels due to mutation inATP8B1.We present a 23-year-old male who experienced persistent...Progressive familial intrahepatic cholestasis type 1 is a rare disease that is characterized by low serum γ-glutamyltransferase levels due to mutation inATP8B1.We present a 23-year-old male who experienced persistent marked pruritus for eighteen years and recurrent jaundice for thirteen years,in addition to cholestasis that eventually became fatal.Genetic sequencing studies of the entire coding(exon) sequences of ATP8B1 and ABCB11 uncovered a novel heterozygous missense 3035G>T mutation(S1012I) and a synonymous 696T>C mutation in ATP8B1.The patient's progression was associated with not only impaired familial intrahepatic cholestasis 1(FIC1) function but also impaired bile salt export pump expression due to the impaired FIC1 function.Our findings show that patients with intermittent cholestasis can develop progressive liver disease even after several decades and require regular follow up.展开更多
Intuitionistic fuzzy set is an extended form of Zadeh's fuzzy set. In this paper, the concept of L type intuitionistic fuzzy family based on lattice implication algebras was proposed and some of its properties we...Intuitionistic fuzzy set is an extended form of Zadeh's fuzzy set. In this paper, the concept of L type intuitionistic fuzzy family based on lattice implication algebras was proposed and some of its properties were discussed.展开更多
BACKGROUND Alexithymia is defined as difficulties in identifying,expressing,and understanding emotions.An unapproving environment during childhood is defined as the child not receiving emotional approval from their pa...BACKGROUND Alexithymia is defined as difficulties in identifying,expressing,and understanding emotions.An unapproving environment during childhood is defined as the child not receiving emotional approval from their parents,being punished,or having their emotions devalued.The formation of self-esteem is shaped by the influence of parental behavior during childhood.The commu-nication that the child establishes with their parents contributes to their increased self-esteem and sense of importance.The absence of this may play a role in developmental psychopathology.AIM To examine the mediating role of self-esteem in the relationship between a disapproving environment in childhood and alexithymia.METHODS The research in the relational screening model was conducted with 404 participants.Demographic Information Form,Disapproving Environment Scale in Childhood,Toronto Alexithymia Scale,and Rosenberg Self-Esteem Scale were used as data collection tools.Hayes’bootstrapping technique was used in the analysis of the data obtained from the research.RESULTS As a result of the analyses,parental disapproval positively predicted the level of alexithymia(rmother=0.51,rfather=0.52,P<0.05)and negatively predicted selfesteem(rmother=-0.75,rfather=-0.67,P<0.05).Additionally,self-esteem negatively predicted alexithymia(r=-0.58,P<0.05).It was observed that self-esteem had a partial mediating effect on the relationship between parental disapproval and alexithymia.Family types were analyzed separately as chaotic,approving,perfect,and typical.Of these,the chaotic family type positively predicted alexithymia(r=0.33,P<0.05)and negatively predicted self-esteem(r=-0.60,P<0.05).The approving family type negatively predicted alexithymia(r=-0.43,P<0.05)and positively predicted self-esteem(r=0.61,P<0.05).The perfect family type negatively predicted alexithymia(r=-0.27,P<0.05)and positively predicted self-esteem(r=-0.45,P<0.05).CONCLUSION The type of family in which the child grows up in and parental disapproval during childhood affected the child’s self-esteem and caused alexithymic personality traits.展开更多
Introduction Progressive familial intrahepatic cholestasis Type 3(PFIC3)is a rare,autosomal recessive,and hepatocellular-originating cholestatic liver disease caused by mutations in the ABCB4 gene,which encodes the mu...Introduction Progressive familial intrahepatic cholestasis Type 3(PFIC3)is a rare,autosomal recessive,and hepatocellular-originating cholestatic liver disease caused by mutations in the ABCB4 gene,which encodes the multidrug resistance protein 3(MDR3)[1].The function of the MDR3 protein is to translocate phosphatidylcholine from the inner lipid layer to the outer lipid layer of the bile canaliculus[1].Phosphatidylcholine combines with bile salts to form mixed micelles,which protect the biliary epithelium from the detergent effects of bile acids.In the absence of MDR3 protein,this translocation is impaired,leaving the biliary epithelium exposed to the detergent effects of bile acids[2].This disruption leads to cholestasis and progressive liver damage[2].展开更多
To investigate the relation of two different mutations to the outcome of partial external biliary diversion(PEBD)in severe bile salt export pump(BSEP)deficiency.METHODSMutations in the gene encoding BSEP leading to se...To investigate the relation of two different mutations to the outcome of partial external biliary diversion(PEBD)in severe bile salt export pump(BSEP)deficiency.METHODSMutations in the gene encoding BSEP leading to severe BSEP deficiency in two unrelated patients were identified by genomic sequencing.Native liver biopsies and transiently transfected human embryonic kidney(HEK)293 cells expressing either wild-type or mutated BSEP were subjected to immunofluorescence analysis to assess BSEP transporter localization.Bile acid profiles of patient and control bile samples were generated by ultra-performance liquid chromatography-tandem mass spectrometry.Wild-type and mutant BSEP transport of[<sup>3</sup>H]-labeled taurocholate(TC)and taurochenodeoxycholate(TCDC)was assessed by vesicular transport assays.RESULTSA girl(at 2 mo)presented with pruritus,jaundice and elevated serum bile salts(BS).PEBD stabilized liver function and prevented liver transplantation.She was heterozygous for the BSEP deletion p.T919del and the nonsense mutation p.R1235X.At the age of 17 years relative amounts of conjugated BS in her bile were normal,while total BS were less than 3%as compared to controls.An unrelated boy(age 1.5 years)presenting with severe pruritus and elevated serum BS was heterozygous for the same nonsense and another missense mutation,p.G1032R.PEBD failed to alleviate pruritus,eventually necessitating liver transplantation.BS concentration in bile was about 5%of controls.BS were mainly unconjugated with an unusual low amount of chenodeoxycholate derivatives(<5%).The patients’native liver biopsies showed canalicular BSEP expression.Both BSEP p.T919del and p.G1032R were localized in the plasma membrane in HEK293 cells.In vitro transport assays showed drastic reduction of transport by both mutations.Using purified recombinant BSEP as quantifiable reference,per-molecule transport rates for TC and TCDC were determined to be 3 and 2 BS molecules per wild-type BSEP transporter per minute,respectively.CONCLUSIONIn summary,our findings suggest that residual function of BSEP as well as substrate specificity influence the therapeutic effectiveness of PEBD in progressive familial intrahepatic cholestasis type 2(PFIC-2).展开更多
Objective To explore the personality characteristics of children with tic disorders and their relationship with family factors. Methods Sixty cases of children with tic disorders diagnosed in our hospital were selecte...Objective To explore the personality characteristics of children with tic disorders and their relationship with family factors. Methods Sixty cases of children with tic disorders diagnosed in our hospital were selected as the case group and 65 cases of normal children were selected as the control group. The children of two groups were assessed using Eysenck Personality Questionnaire(EPQ), Family Environment Scale(FES-CV) and general situation questionnaire of family(GSQ), respectively. The scores of EPQ personality characteristics, FES-CV and GSQ scores were compared for the children in the two groups. The Person correlation analysis method was used to analyze the correlation between personality scores of children in case group and family environment factors. Results The general situation questionnaire results showed that there was significant statistically difference in parenting style, parental education level and family types of the children between case group and control group(P<0.05); EPQ results showed that the neuroticism and psychoticism scores of children in the case group were significantly higher than those in the control group(P<0.05) and the lying degree scores in the control group were significantly higher than those in the case group(P<0.05); FES-CV results showed that the family cohesion scores of the case group were significantly lower than those of the control group(P<0.05), and the family conflict scores in the case group were significantly higher than those in the control group(P<0.05). The Person correlation analysis results indicated that the psychoticism score was negatively correlated with the score of family cohesion(P<0.05), and positively correlated with family conflict(P<0.05), while the neuroticism score was positively correlated with family conflict score(P<0.05). Conclusion The children with tic disorders have significant personality deviation compared to the normal children, and the personality deviation degree is correlated to family contradiction, and family cohesion.展开更多
The lack of population-level data on growth and development of children and adolescents in Ecuador, and the existence of previous data suggesting an alarming increase in the numbers of children presenting overweight o...The lack of population-level data on growth and development of children and adolescents in Ecuador, and the existence of previous data suggesting an alarming increase in the numbers of children presenting overweight or obesity justifies the present cohort study which includes all pupils of municipal schools of Quito aged 9 to 17 years. Follow-up will continue for a minimum of 7 years. This will allow determining the evolution of prevalence of these phenomena and their trends as well as other indices, both physiological and family-related customs, in order to plan appropriate preventive interventions. The present cross-sectional study includes 21 municipal schools, grouped into four health zones, each of which depends on a health centre, also municipal, and which are responsible for the health of pupils in these schools. Of the 6964 pupils studied, 18.7% suffer overweight and 7.9% obesity: 19.3% and 9.7% respectively in boys, compared to 18.2% and 5.4% in girls. The study also assesses family characteristics, degree of sedentarism and nutritional habits: 62.3% declared living in a nuclear family, and 60.5% declared their families to be in the “adolescent” life-cycle stage;91.9% of pupils were sedentary while 5.4% (CI95% 4.87 - 5.94) reported not eating breakfast every day.展开更多
Progressive familial intrahepatic cholestasis type 2(PFIC2),also known as bile salt export pump(BSEP)deficiency disease,is a rare autosomal recessive inherited liver disease caused by mutations in the ABCB11 gene(loca...Progressive familial intrahepatic cholestasis type 2(PFIC2),also known as bile salt export pump(BSEP)deficiency disease,is a rare autosomal recessive inherited liver disease caused by mutations in the ABCB11 gene(located on chromosome 2q24-31),leading to impaired bile secretion.1 Over 200 distinct mutations in the ABCB11 gene have been identified,including missense,nonsense,insertion,deletion,and splice site mutations.1 Compared with other types of PFIC,patients with BSEP deficiency are at a higher risk of progressing to cirrhosis and liver failure.Current treatment options for PFIC2 remain limited and frustrating.Liver transplantation,the only effective intervention,remains the sole definitive treatment for PFIC2.Nevertheless,its application is severely limited by the prohibitive cost and the scarcity of suitable liver donors.Addressing the pathogenesis of PFIC2 poses a significant clinical challenge.However,a recent study has shown that sirolimus may partially restore the bile excretion ability of ABCB11 mutants in abcb11 knockout Zebrafish models.2 This case report describes a patient with BSEP deficiency disease who responded favorably to sirolimus treatment.展开更多
基金Supported by the National Natural Science Foundation of China,No.82471804.
文摘BACKGROUND Progressive familial intrahepatic cholestasis type 1(PFIC-1)is a genetic cholestatic disease causing end-stage liver disease,which needs liver transplantation(LT).Simultaneous biliary diversion(BD)was recommended to prevent allograft steatosis after transplantation,while increasing the risk of infection.Here,an attempt was made to perform BD using appendix to prevent bacterial translocation after LT.CASE SUMMARY An 11-month-old boy diagnosed with PFIC-1 received ABO compatible living donor LT due to refractory jaundice and pruritus.His mother donated her left lateral segment with a graft-to-recipient weight ratio of 2.9%.Internal BD was constructed during LT using the appendix by connecting its proximal end with the intrahepatic biliary duct and the distal end with colon.Biliary leakage was suspected on the 5th day after transplantation and exploratory laparotomy indicated biliary leakage at the cutting surface of liver.The liver function returned to normal on the 9th day post-operation and maintained normal during the 15-month follow-up.Cholangiography at 10 months after transplantation confirmed the direct secretion of bile into colon.Computerized tomography scan(4 months and 10 months)and liver biopsy(10 months)indicated no steatosis in the allograft.No complaint of recurrent diarrhea,infection or growth retardation was reported during follow-up.CONCLUSION Internal BD using appendix during LT is effective in preventing allograft steatosis and post-transplant infection in PFIC-1 recipients.
文摘This article reviews a paper in the World Journal of Diabetes.The study uncovers the link between PPARG gene mutations and metabolic disorders,such as insulin resistance,diabetes,and hypertriglyceridemia,and emphasizes the crucial role of genetic testing in precise diagnosis and personalized treatment.This article further points out that in-depth investigation into the clinical heterogeneity of PPARG mutations and their underlying mechanisms can contribute to optimizing management strategies.Meanwhile,the development of more effective targeted therapies and the conduct of extensive genomic research are of great significance for understanding familial partial lipodystrophy type 3 and related metabolic syndromes.
基金Supported by Natural Science Foundation of Gansu Province,No.21JR7RA410.
文摘BACKGROUND Mutations that occur in the ABCB4 gene,which encodes multidrug-resistant protein 3,underlie the occurrence of progressive familial intrahepatic cholestasis type 3(PFIC3).Clinical signs of intrahepatic cholestasis due to gene mutations typically first appear during infancy or childhood.Reports of PFIC3 occurring in adults are rare.CASE SUMMARY This is a case study of a 32-year-old infertile female Chinese patient with a 15-year history of recurrent abnormal liver function.Her primary clinical signs were elevated levels of alkaline phosphatase andγ-glutamyl transpeptidase.Other possible reasons for liver dysfunction were eliminated in this patient,resulting in a diagnosis of PFIC3.The diagnosis was confirmed using gene detection and histological analyses.Assessments using genetic sequencing analysis indicated the presence of two novel heterozygous mutations in the ABCB4 gene,namely,a 2950C>T;p.A984V mutation(exon 24)and a 667A>G;p.I223V mutation(exon 7).After receiving ursodeoxycholic acid(UDCA)treatment,the patient's liver function indices improved,and she successfully became pregnant by in vitro fertilization.However,the patient developed intrahepatic cholestasis of pregnancy in the first trimester.Fortunately,treatment with UDCA was safe and effective.CONCLUSION These novel ABCB4 heterozygous mutations have a variety of clinical phenotypes.Continued follow-up is essential for a comprehensive understanding of PFIC3.
文摘Progressive familial intrahepatic cholestasis type 1 is a rare disease that is characterized by low serum γ-glutamyltransferase levels due to mutation inATP8B1.We present a 23-year-old male who experienced persistent marked pruritus for eighteen years and recurrent jaundice for thirteen years,in addition to cholestasis that eventually became fatal.Genetic sequencing studies of the entire coding(exon) sequences of ATP8B1 and ABCB11 uncovered a novel heterozygous missense 3035G>T mutation(S1012I) and a synonymous 696T>C mutation in ATP8B1.The patient's progression was associated with not only impaired familial intrahepatic cholestasis 1(FIC1) function but also impaired bile salt export pump expression due to the impaired FIC1 function.Our findings show that patients with intermittent cholestasis can develop progressive liver disease even after several decades and require regular follow up.
文摘Intuitionistic fuzzy set is an extended form of Zadeh's fuzzy set. In this paper, the concept of L type intuitionistic fuzzy family based on lattice implication algebras was proposed and some of its properties were discussed.
文摘BACKGROUND Alexithymia is defined as difficulties in identifying,expressing,and understanding emotions.An unapproving environment during childhood is defined as the child not receiving emotional approval from their parents,being punished,or having their emotions devalued.The formation of self-esteem is shaped by the influence of parental behavior during childhood.The commu-nication that the child establishes with their parents contributes to their increased self-esteem and sense of importance.The absence of this may play a role in developmental psychopathology.AIM To examine the mediating role of self-esteem in the relationship between a disapproving environment in childhood and alexithymia.METHODS The research in the relational screening model was conducted with 404 participants.Demographic Information Form,Disapproving Environment Scale in Childhood,Toronto Alexithymia Scale,and Rosenberg Self-Esteem Scale were used as data collection tools.Hayes’bootstrapping technique was used in the analysis of the data obtained from the research.RESULTS As a result of the analyses,parental disapproval positively predicted the level of alexithymia(rmother=0.51,rfather=0.52,P<0.05)and negatively predicted selfesteem(rmother=-0.75,rfather=-0.67,P<0.05).Additionally,self-esteem negatively predicted alexithymia(r=-0.58,P<0.05).It was observed that self-esteem had a partial mediating effect on the relationship between parental disapproval and alexithymia.Family types were analyzed separately as chaotic,approving,perfect,and typical.Of these,the chaotic family type positively predicted alexithymia(r=0.33,P<0.05)and negatively predicted self-esteem(r=-0.60,P<0.05).The approving family type negatively predicted alexithymia(r=-0.43,P<0.05)and positively predicted self-esteem(r=0.61,P<0.05).The perfect family type negatively predicted alexithymia(r=-0.27,P<0.05)and positively predicted self-esteem(r=-0.45,P<0.05).CONCLUSION The type of family in which the child grows up in and parental disapproval during childhood affected the child’s self-esteem and caused alexithymic personality traits.
文摘Introduction Progressive familial intrahepatic cholestasis Type 3(PFIC3)is a rare,autosomal recessive,and hepatocellular-originating cholestatic liver disease caused by mutations in the ABCB4 gene,which encodes the multidrug resistance protein 3(MDR3)[1].The function of the MDR3 protein is to translocate phosphatidylcholine from the inner lipid layer to the outer lipid layer of the bile canaliculus[1].Phosphatidylcholine combines with bile salts to form mixed micelles,which protect the biliary epithelium from the detergent effects of bile acids.In the absence of MDR3 protein,this translocation is impaired,leaving the biliary epithelium exposed to the detergent effects of bile acids[2].This disruption leads to cholestasis and progressive liver damage[2].
基金Supported by the German-Research Foun-dation-through the Clin-ical Research Group KFO217“Hepatobiliary tran-sport an-d liver diseases”the Collaborative Research Cen-tre 974“Commun-ication-an-d Systemic Relevan-ce in-Liver Damage an-d Regen-eration-”
文摘To investigate the relation of two different mutations to the outcome of partial external biliary diversion(PEBD)in severe bile salt export pump(BSEP)deficiency.METHODSMutations in the gene encoding BSEP leading to severe BSEP deficiency in two unrelated patients were identified by genomic sequencing.Native liver biopsies and transiently transfected human embryonic kidney(HEK)293 cells expressing either wild-type or mutated BSEP were subjected to immunofluorescence analysis to assess BSEP transporter localization.Bile acid profiles of patient and control bile samples were generated by ultra-performance liquid chromatography-tandem mass spectrometry.Wild-type and mutant BSEP transport of[<sup>3</sup>H]-labeled taurocholate(TC)and taurochenodeoxycholate(TCDC)was assessed by vesicular transport assays.RESULTSA girl(at 2 mo)presented with pruritus,jaundice and elevated serum bile salts(BS).PEBD stabilized liver function and prevented liver transplantation.She was heterozygous for the BSEP deletion p.T919del and the nonsense mutation p.R1235X.At the age of 17 years relative amounts of conjugated BS in her bile were normal,while total BS were less than 3%as compared to controls.An unrelated boy(age 1.5 years)presenting with severe pruritus and elevated serum BS was heterozygous for the same nonsense and another missense mutation,p.G1032R.PEBD failed to alleviate pruritus,eventually necessitating liver transplantation.BS concentration in bile was about 5%of controls.BS were mainly unconjugated with an unusual low amount of chenodeoxycholate derivatives(<5%).The patients’native liver biopsies showed canalicular BSEP expression.Both BSEP p.T919del and p.G1032R were localized in the plasma membrane in HEK293 cells.In vitro transport assays showed drastic reduction of transport by both mutations.Using purified recombinant BSEP as quantifiable reference,per-molecule transport rates for TC and TCDC were determined to be 3 and 2 BS molecules per wild-type BSEP transporter per minute,respectively.CONCLUSIONIn summary,our findings suggest that residual function of BSEP as well as substrate specificity influence the therapeutic effectiveness of PEBD in progressive familial intrahepatic cholestasis type 2(PFIC-2).
文摘Objective To explore the personality characteristics of children with tic disorders and their relationship with family factors. Methods Sixty cases of children with tic disorders diagnosed in our hospital were selected as the case group and 65 cases of normal children were selected as the control group. The children of two groups were assessed using Eysenck Personality Questionnaire(EPQ), Family Environment Scale(FES-CV) and general situation questionnaire of family(GSQ), respectively. The scores of EPQ personality characteristics, FES-CV and GSQ scores were compared for the children in the two groups. The Person correlation analysis method was used to analyze the correlation between personality scores of children in case group and family environment factors. Results The general situation questionnaire results showed that there was significant statistically difference in parenting style, parental education level and family types of the children between case group and control group(P<0.05); EPQ results showed that the neuroticism and psychoticism scores of children in the case group were significantly higher than those in the control group(P<0.05) and the lying degree scores in the control group were significantly higher than those in the case group(P<0.05); FES-CV results showed that the family cohesion scores of the case group were significantly lower than those of the control group(P<0.05), and the family conflict scores in the case group were significantly higher than those in the control group(P<0.05). The Person correlation analysis results indicated that the psychoticism score was negatively correlated with the score of family cohesion(P<0.05), and positively correlated with family conflict(P<0.05), while the neuroticism score was positively correlated with family conflict score(P<0.05). Conclusion The children with tic disorders have significant personality deviation compared to the normal children, and the personality deviation degree is correlated to family contradiction, and family cohesion.
文摘The lack of population-level data on growth and development of children and adolescents in Ecuador, and the existence of previous data suggesting an alarming increase in the numbers of children presenting overweight or obesity justifies the present cohort study which includes all pupils of municipal schools of Quito aged 9 to 17 years. Follow-up will continue for a minimum of 7 years. This will allow determining the evolution of prevalence of these phenomena and their trends as well as other indices, both physiological and family-related customs, in order to plan appropriate preventive interventions. The present cross-sectional study includes 21 municipal schools, grouped into four health zones, each of which depends on a health centre, also municipal, and which are responsible for the health of pupils in these schools. Of the 6964 pupils studied, 18.7% suffer overweight and 7.9% obesity: 19.3% and 9.7% respectively in boys, compared to 18.2% and 5.4% in girls. The study also assesses family characteristics, degree of sedentarism and nutritional habits: 62.3% declared living in a nuclear family, and 60.5% declared their families to be in the “adolescent” life-cycle stage;91.9% of pupils were sedentary while 5.4% (CI95% 4.87 - 5.94) reported not eating breakfast every day.
基金supported by the 5010 Cultivation Program of Clinical Research of Sun Yat-Sen University(No.2018024)Guangzhou Science and Technology Plan Project(2023A03J0807).
文摘Progressive familial intrahepatic cholestasis type 2(PFIC2),also known as bile salt export pump(BSEP)deficiency disease,is a rare autosomal recessive inherited liver disease caused by mutations in the ABCB11 gene(located on chromosome 2q24-31),leading to impaired bile secretion.1 Over 200 distinct mutations in the ABCB11 gene have been identified,including missense,nonsense,insertion,deletion,and splice site mutations.1 Compared with other types of PFIC,patients with BSEP deficiency are at a higher risk of progressing to cirrhosis and liver failure.Current treatment options for PFIC2 remain limited and frustrating.Liver transplantation,the only effective intervention,remains the sole definitive treatment for PFIC2.Nevertheless,its application is severely limited by the prohibitive cost and the scarcity of suitable liver donors.Addressing the pathogenesis of PFIC2 poses a significant clinical challenge.However,a recent study has shown that sirolimus may partially restore the bile excretion ability of ABCB11 mutants in abcb11 knockout Zebrafish models.2 This case report describes a patient with BSEP deficiency disease who responded favorably to sirolimus treatment.
