Summary： The ATP2C1 gene mutation in one ease of familial benign chronic pemphigus was investigated.One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical...Summary： The ATP2C1 gene mutation in one ease of familial benign chronic pemphigus was investigated.One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical features. Genomic DNA was extracted from blood samples. Mutation of ATP2CI gene was detected by polymerase chain reaction （PCR） and DNA sequencing. The results showed that deletion mutation was detected in ATP2C1 gene in this patient, which was 2374delTTTG. No mutation was found in the family members and normal individuals. It was coneluded that the 2374delTTTG mutation in ATP2C1 gene was the specific mutation for the clinical phenotype for this patient and was a de novo mutation.展开更多
Objective To analyze the clinical feature, efficacy of treatment and prognosis in familial benign chronic pemphigus (FBCP) Methods Sixty nine cases of FBCP were retrospectively analyzed Results The ratio of ma...Objective To analyze the clinical feature, efficacy of treatment and prognosis in familial benign chronic pemphigus (FBCP) Methods Sixty nine cases of FBCP were retrospectively analyzed Results The ratio of male to female is 3 93:1 in 69 patients (55 males, 14 females) The mean age at the onset was 29 09 years (3-60 years) There was familial history in 27 families in all of the cases The lesion usually involved in genital area, neck, axillae and popliteal fossa Erythemas and vesicles on the soles were seen only in 1 case Histopathologically 44 cases had special features of FBCP, and immunopathologically 8 cases were direct immunofluorescence (DIF) negative, in which one case had C3 linear deposition along dermoepidermal junction The combined regimen was more effective The low dose X ray could improve the effect Conclusion The disease is transmitted as an irregular autosomal dominant trait The condition in males is more frequent than that in females, probably owing to the different level of female hormone in both sexes Our patients have the same clinical features as those reported in the literature, but the erythema, vesicle lesions on sole have not been documented in the literature The combined therapy should be adopted in this condition展开更多
The perception of nursing staff’s attitude influences patient fear.Understanding this dynamic is crucial for fostering a supportive environment conducive to patient well-being and effective healthcare practices.The p...The perception of nursing staff’s attitude influences patient fear.Understanding this dynamic is crucial for fostering a supportive environment conducive to patient well-being and effective healthcare practices.The purpose of this research is to investigate how the attitudes and behaviours of nursing staff influence the fear and anxiety levels of patients recovering from benign tumors,aiming to improve patient care and recovery outcomes.Data was collected from a sample of 100 participants,comprising 20 nursing staff and 80 patients recovering from benign tumors.Surveys were administered to gather quantitative data on attitudes and fear levels.Participants were selected randomly from hospital records and outpatient clinics.Our analysis encompassed nursing staff attitude,patient fear levels,the influence of family support,progression of tumor recovery,patient-reported satisfaction,and the quality of healthcare services provided.The quantitative aspect utilized PLS-SEM software to perform regression analysis,evaluating both direct and indirect effects.Statistical analysis assessed the relationships between nursing staff attitudes,patient fear during benign tumor recovery,and the mediating role of family support.The findings of the study demonstrate that better nurse attitudes(Hypothesis 1,β=0.45,p<0.001)and stronger family support(Hypothesis 2,β=0.32;p<0.001) are linked to lower levels of patient fear.Partially mediating the relationship between nurse attitudes and patient fear,according to Hypothesis 3(β=0.28,p<0.002),is family support.Patients’perceptions of family support are highly influenced by nursing behaviour,as demonstrated by Hypothesis 4(β=0.38;p<0.001).Our research showed a strong relationship between the attitudes of nursing personnel and patient fear levels.Family support demonstrated a strong mediating effect on patient fear.Patient-reported satisfaction is positively correlated with family support.However,no significant relationship was found between healthcare service quality and patient fear.展开更多
BACKGROUND Progressive familial intrahepatic cholestasis(PFIC)refers to a disparate group of autosomal recessive disorders that are linked by the inability to appropriately form and excrete bile from hepatocytes,resul...BACKGROUND Progressive familial intrahepatic cholestasis(PFIC)refers to a disparate group of autosomal recessive disorders that are linked by the inability to appropriately form and excrete bile from hepatocytes,resulting in a hepatocellular form of cholestasis.While the diagnosis of such disorders had historically been based on pattern recognition of unremitting cholestasis without other identified molecular or anatomic cause,recent scientific advancements have uncovered multiple specific responsible proteins.The variety of identified defects has resulted in an ever-broadening phenotypic spectrum,ranging from traditional benign recurrent jaundice to progressive cholestasis and end-stage liver disease.AIM To review current data on defects in bile acid homeostasis,explore the expanding knowledge base of genetic based diseases in this field,and report disease characteristics and management.METHODS We conducted a systemic review according to PRISMA guidelines.We performed a Medline/PubMed search in February-March 2019 for relevant articles relating to the understanding,diagnosis,and management of bile acid homeostasis with a focus on the family of diseases collectively known as PFIC.English only articles were accessed in full.The manual search included references of retrieved articles.We extracted data on disease characteristics,associations with other diseases,and treatment.Data was summarized and presented in text,figure,and table format.RESULTS Genetic-based liver disease resulting in the inability to properly form and secrete bile constitute an important cause of morbidity and mortality in children and increasingly in adults.A growing number of PFIC have been described based on an expanded understanding of biliary transport mechanism defects and the development of a common phenotype.CONCLUSION We present a summary of current advances made in a number of areas relevant to both the classically described FIC1(ATP8B1),BSEP(ABCB11),and MDR3(ABCB4)transporter deficiencies,as well as more recently described gene mutations--TJP2(TJP2),FXR(NR1H4),MYO5B(MYO5B),and others which expand the etiology and understanding of PFIC-related cholestatic diseases and bile transport.展开更多
Male patients with lower urinary tract symptoms(LUTS)and benign prostatic hyperplasia(BPH)are increasingly seen by family physicians worldwide due to ageing demographics.A systematic way to stratify patients who can b...Male patients with lower urinary tract symptoms(LUTS)and benign prostatic hyperplasia(BPH)are increasingly seen by family physicians worldwide due to ageing demographics.A systematic way to stratify patients who can be managed in the community and those who need to be referred to the urologist is thus very useful.Good history taking,physical examination,targeted blood or urine tests,and knowing the red flags for referral are the mainstay of stratifying these patients.Case selection is always key in clinical practice and in the setting of the family physician.The best patient to manage is one above 40 years of age,symptomatic with nocturia,slower stream and sensation of incomplete voiding,has a normal prostatespecific antigen level,no palpable bladder,and no haematuria or pyuria on the labstix.The roles of α blockers,5-α reductase inhibitors,and antibiotics in a primary care setting to manage this condition are also discussed.展开更多
BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters.Herein,we firstly pro...BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters.Herein,we firstly provide the evidence that a nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygous form is involved in BRIC pathogenesis.CASE SUMMARY A 29-year-old male showed severe jaundice and laboratory tests consistent with intrahepatic cholestasis despite normal gamma-glutamyltranspeptidase.Acute and chronic liver diseases with viral,metabolic and autoimmune etiology were excluded.Normal intra/extra-hepatic bile ducts were demonstrated by magnetic resonance.Liver biopsy showed:Cholestasis in the centrilobular and intermediate zones with bile plugs and intra-hepatocyte pigment,Kupffer’s cell activation/hyperplasia and preserved biliary ducts.Being satisfied benign recurrent intrahepatic cholestasis diagnostic criteria,ATP8B1 and ABCB11 gene analysis was performed.Surprisingly,we found a novel nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygosis.The variant was confirmed by Sanger sequencing following a standard protocol and tested for familial segregation,showing a maternal inheritance.Immunohistochemistry confirmed a significant reduction of mutated gene related protein(familial intrahepatic cholestasis 1).The patient was treated with ursodeoxycholic acid 15 mg/kg per day and colestyramine 8 g daily with total bilirubin decrease and normalization at the 6th and 12th mo.CONCLUSION A genetic abnormality,different from those already known,could be involved in familial intrahepatic cholestatic disorders and/or pro-cholestatic genetic predisposition,thus encouraging further mutation detection in this field.展开更多
文摘Summary： The ATP2C1 gene mutation in one ease of familial benign chronic pemphigus was investigated.One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical features. Genomic DNA was extracted from blood samples. Mutation of ATP2CI gene was detected by polymerase chain reaction （PCR） and DNA sequencing. The results showed that deletion mutation was detected in ATP2C1 gene in this patient, which was 2374delTTTG. No mutation was found in the family members and normal individuals. It was coneluded that the 2374delTTTG mutation in ATP2C1 gene was the specific mutation for the clinical phenotype for this patient and was a de novo mutation.
文摘Objective To analyze the clinical feature, efficacy of treatment and prognosis in familial benign chronic pemphigus (FBCP) Methods Sixty nine cases of FBCP were retrospectively analyzed Results The ratio of male to female is 3 93:1 in 69 patients (55 males, 14 females) The mean age at the onset was 29 09 years (3-60 years) There was familial history in 27 families in all of the cases The lesion usually involved in genital area, neck, axillae and popliteal fossa Erythemas and vesicles on the soles were seen only in 1 case Histopathologically 44 cases had special features of FBCP, and immunopathologically 8 cases were direct immunofluorescence (DIF) negative, in which one case had C3 linear deposition along dermoepidermal junction The combined regimen was more effective The low dose X ray could improve the effect Conclusion The disease is transmitted as an irregular autosomal dominant trait The condition in males is more frequent than that in females, probably owing to the different level of female hormone in both sexes Our patients have the same clinical features as those reported in the literature, but the erythema, vesicle lesions on sole have not been documented in the literature The combined therapy should be adopted in this condition
文摘The perception of nursing staff’s attitude influences patient fear.Understanding this dynamic is crucial for fostering a supportive environment conducive to patient well-being and effective healthcare practices.The purpose of this research is to investigate how the attitudes and behaviours of nursing staff influence the fear and anxiety levels of patients recovering from benign tumors,aiming to improve patient care and recovery outcomes.Data was collected from a sample of 100 participants,comprising 20 nursing staff and 80 patients recovering from benign tumors.Surveys were administered to gather quantitative data on attitudes and fear levels.Participants were selected randomly from hospital records and outpatient clinics.Our analysis encompassed nursing staff attitude,patient fear levels,the influence of family support,progression of tumor recovery,patient-reported satisfaction,and the quality of healthcare services provided.The quantitative aspect utilized PLS-SEM software to perform regression analysis,evaluating both direct and indirect effects.Statistical analysis assessed the relationships between nursing staff attitudes,patient fear during benign tumor recovery,and the mediating role of family support.The findings of the study demonstrate that better nurse attitudes(Hypothesis 1,β=0.45,p<0.001)and stronger family support(Hypothesis 2,β=0.32;p<0.001) are linked to lower levels of patient fear.Partially mediating the relationship between nurse attitudes and patient fear,according to Hypothesis 3(β=0.28,p<0.002),is family support.Patients’perceptions of family support are highly influenced by nursing behaviour,as demonstrated by Hypothesis 4(β=0.38;p<0.001).Our research showed a strong relationship between the attitudes of nursing personnel and patient fear levels.Family support demonstrated a strong mediating effect on patient fear.Patient-reported satisfaction is positively correlated with family support.However,no significant relationship was found between healthcare service quality and patient fear.
文摘BACKGROUND Progressive familial intrahepatic cholestasis(PFIC)refers to a disparate group of autosomal recessive disorders that are linked by the inability to appropriately form and excrete bile from hepatocytes,resulting in a hepatocellular form of cholestasis.While the diagnosis of such disorders had historically been based on pattern recognition of unremitting cholestasis without other identified molecular or anatomic cause,recent scientific advancements have uncovered multiple specific responsible proteins.The variety of identified defects has resulted in an ever-broadening phenotypic spectrum,ranging from traditional benign recurrent jaundice to progressive cholestasis and end-stage liver disease.AIM To review current data on defects in bile acid homeostasis,explore the expanding knowledge base of genetic based diseases in this field,and report disease characteristics and management.METHODS We conducted a systemic review according to PRISMA guidelines.We performed a Medline/PubMed search in February-March 2019 for relevant articles relating to the understanding,diagnosis,and management of bile acid homeostasis with a focus on the family of diseases collectively known as PFIC.English only articles were accessed in full.The manual search included references of retrieved articles.We extracted data on disease characteristics,associations with other diseases,and treatment.Data was summarized and presented in text,figure,and table format.RESULTS Genetic-based liver disease resulting in the inability to properly form and secrete bile constitute an important cause of morbidity and mortality in children and increasingly in adults.A growing number of PFIC have been described based on an expanded understanding of biliary transport mechanism defects and the development of a common phenotype.CONCLUSION We present a summary of current advances made in a number of areas relevant to both the classically described FIC1(ATP8B1),BSEP(ABCB11),and MDR3(ABCB4)transporter deficiencies,as well as more recently described gene mutations--TJP2(TJP2),FXR(NR1H4),MYO5B(MYO5B),and others which expand the etiology and understanding of PFIC-related cholestatic diseases and bile transport.
文摘Male patients with lower urinary tract symptoms(LUTS)and benign prostatic hyperplasia(BPH)are increasingly seen by family physicians worldwide due to ageing demographics.A systematic way to stratify patients who can be managed in the community and those who need to be referred to the urologist is thus very useful.Good history taking,physical examination,targeted blood or urine tests,and knowing the red flags for referral are the mainstay of stratifying these patients.Case selection is always key in clinical practice and in the setting of the family physician.The best patient to manage is one above 40 years of age,symptomatic with nocturia,slower stream and sensation of incomplete voiding,has a normal prostatespecific antigen level,no palpable bladder,and no haematuria or pyuria on the labstix.The roles of α blockers,5-α reductase inhibitors,and antibiotics in a primary care setting to manage this condition are also discussed.
文摘BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters.Herein,we firstly provide the evidence that a nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygous form is involved in BRIC pathogenesis.CASE SUMMARY A 29-year-old male showed severe jaundice and laboratory tests consistent with intrahepatic cholestasis despite normal gamma-glutamyltranspeptidase.Acute and chronic liver diseases with viral,metabolic and autoimmune etiology were excluded.Normal intra/extra-hepatic bile ducts were demonstrated by magnetic resonance.Liver biopsy showed:Cholestasis in the centrilobular and intermediate zones with bile plugs and intra-hepatocyte pigment,Kupffer’s cell activation/hyperplasia and preserved biliary ducts.Being satisfied benign recurrent intrahepatic cholestasis diagnostic criteria,ATP8B1 and ABCB11 gene analysis was performed.Surprisingly,we found a novel nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygosis.The variant was confirmed by Sanger sequencing following a standard protocol and tested for familial segregation,showing a maternal inheritance.Immunohistochemistry confirmed a significant reduction of mutated gene related protein(familial intrahepatic cholestasis 1).The patient was treated with ursodeoxycholic acid 15 mg/kg per day and colestyramine 8 g daily with total bilirubin decrease and normalization at the 6th and 12th mo.CONCLUSION A genetic abnormality,different from those already known,could be involved in familial intrahepatic cholestatic disorders and/or pro-cholestatic genetic predisposition,thus encouraging further mutation detection in this field.
