We reported a case of an overweight 34-year-old woman who unexpectedly became pregnant while undergoing semaglutide in early pregnancy and delivered a healthy male infant by caesarean section at 37 weeks and 4 days of...We reported a case of an overweight 34-year-old woman who unexpectedly became pregnant while undergoing semaglutide in early pregnancy and delivered a healthy male infant by caesarean section at 37 weeks and 4 days of gestation.Until now,the safety of semaglutide for use during pregnancy was unknown.This report may contribute to the limited knowledge available on pregnant women exposure to semaglutide.展开更多
BACKGROUND Synchronous multiple primary cancers (SMPC) mean two or more malignant tumors occurring simultaneously and with different origins no matter what types they are or where they are located. The carcinogenesis ...BACKGROUND Synchronous multiple primary cancers (SMPC) mean two or more malignant tumors occurring simultaneously and with different origins no matter what types they are or where they are located. The carcinogenesis of SMPC often involves variations of some specific genes. However, the correlation between CDH1 mutations and synchronous multiple primary gastrointestinal cancers is largely unknown. CASE SUMMARY A 62-year-old woman had sustained abdominal pain for one week and visited our hospital. Gastrointestinal endoscopy revealed multiple small polypoid lesions in both the stomach and colorectum. Computed tomography and laboratory results were within normal limits. Pathological evaluation confirmed signet ring cell carcinoma without obvious metastatic evidence. Malignant cells showed negativity for E-cadherin and positivity for β-catenin in the cytoplasm and nucleus. DNA sequencing performed on paraffin-embedded tissue revealed two exactly coincident alterations in CDH1, C.57T>G and C.1418A>T. CONCLUSION This case suggests that the combination of CDH1 mutations and WNT/β-catenin signaling activation contributes to the carcinogenesis of gastrointestinal SMPC.展开更多
AIM: To evaluate the association between genetic polymorphisms of the gene encoding AMP-activated protein kinase (PRKAA1) and the risk of gastric cancer.
BACKGROUND Pediatric recurrent acute liver failure(RALF) with recovery between episodes is rare. Causes include autoimmune disease, which may flare and subside;intermittent exposure to toxins, as with ingestions; and ...BACKGROUND Pediatric recurrent acute liver failure(RALF) with recovery between episodes is rare. Causes include autoimmune disease, which may flare and subside;intermittent exposure to toxins, as with ingestions; and metabolic disorders,among them the fever-associated crises ascribed to biallelic mutations in SCYL1,with RALF beginning in infancy. SCYL1 disease manifest with RALF, as known to date, includes central and peripheral neurologic and muscular morbidity(hepatocerebellar neuropathy syndrome). Primary ventilatory and skeletal diseases also have been noted in some reports.CASE SUMMARY We describe a Han Chinese boy in whom fever-associated RALF began at age 14 mo. Bilateral femoral head abnormalities and mild impairment of neurologic function were first noted aged 8 years 6 mo. Liver biopsy after the third RALF episode(7 years) and during resolution of the fourth RALF episode(8 years 6 mo) found abnormal architecture and hepatic fibrosis, respectively. Whole-exome sequencing revealed homozygosity for the novel frameshift mutation c.92_93 insGGGCCCT, p.(H32 Gfs~*20) in SCYL1(parental heterozygosity confirmed).CONCLUSION Our findings expand the mutational and clinical spectrum of SCYL1 disease. In our patient a substantial neurologic component was lacking and skeletal disease was identified relatively late.展开更多
BACKGROUND Cardiac toxic effect of tegafur(S-1) is extremely rare, and there has been no report on this issue so far.CASE SUMMARY We herein report a typical case of single S-1 administration after radical operation fo...BACKGROUND Cardiac toxic effect of tegafur(S-1) is extremely rare, and there has been no report on this issue so far.CASE SUMMARY We herein report a typical case of single S-1 administration after radical operation for colon cancer. The patient had no background or medical history of acute coronary syndrome(ACS), and only aortic and coronary atherosclerosis was revealed by computed tomography(CT) before surgery. He complained of sternum pain during the fifth cycle of S-1 treatment. Electrocardiogram(ECG)and serum cardiac marker cardiac troponin T(cTnT) strongly suggested ACS,which was possibly caused by S-1 cardiotoxicity.CONCLUSION Monitoring protocols based on ECG, CT, and cTnT should be performed in real time to evaluate cardiac function during S-1 administration.展开更多
BACKGROUND Maturity-onset diabetes of the young(MODY)is the most common form of monogenic diabetes.The disease is transmitted in autosomal dominant mode and diabetes is usually diagnosed before age 25 year.MODY 3 is c...BACKGROUND Maturity-onset diabetes of the young(MODY)is the most common form of monogenic diabetes.The disease is transmitted in autosomal dominant mode and diabetes is usually diagnosed before age 25 year.MODY 3 is caused by mutation of hepatocyte nuclear factor(HNF)1A genes and is the most common MODY subtype.Diagnosis of MODY 3 is crucial since glycemic control can be accomplished by very low dose of sulfonylurea.In this report we described a Thai MODY 3 patient who had excellence plasma glucose control by treating with glicazide 20 mg per day and insulin therapy can be discontinued.CASE SUMMARY A 31-year-old woman was diagnosed diabetes mellitus at 14 years old.The disease was transmitted from her grandmother and mother compatible with autosomal dominant inheritance.Sanger sequencing of proband’s DNA identified mutation of HNF1A at codon 203 which changed amino acid from arginine to cysteine(R203C).This mutation was carried only by family members who have diabetes.The patient has been treated effectively with a combination of oral hypoglycemic agents and must include a very low dose of glicazide(20 mg/d).Insulin therapy was successfully discontinued.CONCLUSION We demonstrated a first case of pharmacogenetics in Thai MODY 3 patient.Our findings underscore the essential role of molecular genetics in diagnosis and guidance of appropriate treatment of diabetes mellitus in particular patient.展开更多
Objective: This study aimed to investigate the association between single-nucleotide polymorphisms (SNPs) ofPCSK1 (proprotein convertase subtilisin/kexin type 1) related to obesity and nonalcoholic fatty liver disease...Objective: This study aimed to investigate the association between single-nucleotide polymorphisms (SNPs) ofPCSK1 (proprotein convertase subtilisin/kexin type 1) related to obesity and nonalcoholic fatty liver disease (NAFLD).Methods: In this case-control observational study, four candidate SNPs (rs6234, rs155971, rs6232, rs3811951) ofPCSK1 were genotyped in 732 NAFLD patients and 823 healthy control participants, all of whom were of ethnic Han Chinese descent. All participants came from Shanghai, China, and joined our study during 2015 to 2016. The frequencies of each allele and genotype, paired linkage disequilibrium, and haplotype were calculated on the SHEsis platform. In addition to SHEsis, five different genetic models (codominant, dominant, recessive, overdominant, and log-additive) were employed to identify the correlation between genotype frequency and NAFLD. This study was approved by the Medical Ethics Committee of Shanghai University of Traditional Chinese Medicine (approved No. 2017LCSY069).Results: In a comparison of NAFLD patients and healthy participants, none of the fourPCSK1 SNPs were significantly correlated with the occurrence of NAFLD (P>0.05), in either genotypic or allelic distribution. The recessive model of rs3811951 appeared to show a correlation (odds ratio=1.077;95% confidence interval=0.924-1.256;P=0.04), but there was no statistical significance after Bonferroni correction (Pcorr>0.0125).Conclusions: Four obesity-relatedPCSK1 SNPs (rs6234, rs155971, rs6232, rs3811951) showed no significant correlation with the development of NAFLD in a Han Chinese population.展开更多
Introduction:Muir-Torre syndrome is a phenotypic variant of Lynch syndrome characterized by a predisposition for the development of visceral malignant disease and sebaceous gland neoplasms,and it is caused by germline...Introduction:Muir-Torre syndrome is a phenotypic variant of Lynch syndrome characterized by a predisposition for the development of visceral malignant disease and sebaceous gland neoplasms,and it is caused by germline mutations in the mismatch repair genesMSH2 andMLH1.Case presentation:The proband was a 42-year-old man who had undergone surgical resection of colorectal adenocarcinoma at 28 years.He presented with macular rashes and red papule.Histological examination of the lesion on his head revealed a sebaceoma at 37 years.Follow-up of the family history revealed that the proband’s 65-year-old mother had been highly suspected to have Lynch syndrome with colorectal cancer at 40 years of age.The proband’s daughter underwent colonoscopy because of blood in the stool at the age of 13 years,but no abnormalities were found.Discussion:We have herein reported a pathogenic missense mutation c.199G>A(p.Gly67Arg)in exon 2 ofMLH1 in patients with MTS.This mutation has been reported in patients with Lynch syndrome who have no skin tumors.However,we also found that some patients with MTS had no history of any internal malignancy or skin tumor.Our data support the idea that a hiatus of many years may pass before both elements-a sebaceous neoplasm and an internal cancer-are present in a patient,thus finally allowing the diagnosis of MTS.Conclusion:A pathogenic Lynch syndrome mutation c.199G>A in exon 2 of theMLH1 gene was found in a patient with MTS who presented with a sebaceous neoplasm.展开更多
Background:Cardiomyopathy has a variety of etiologies.Here,we report a case of iron overload cardiomyopathy(IOC)in combination with hereditary stomatocytosis(HST)due to a rare mutation in the PIEZO1 gene.Case summary:...Background:Cardiomyopathy has a variety of etiologies.Here,we report a case of iron overload cardiomyopathy(IOC)in combination with hereditary stomatocytosis(HST)due to a rare mutation in the PIEZO1 gene.Case summary:A 31-year-old man presented to the clinic with a new onset of fatigue and abdominal distension.He had a history of 9-year cholelithiasis,4-year hemolytic anemia,7-month diabetes mellitus(DM),and 6-month low sex drive.The specific features of bronze skin,liver palms,yellow eyes,DM,and cardiomyopathy raised our suspicion of hemochromatosis,which was confirmed by an elevated serum ferritin concentration and high transferrin saturation.Echocardiography and cardiovascular magnetic resonance(CMR)imaging demonstrated dilation of all cardiac cavities with a left ventricular ejection fraction of 30%.CMR T2*mapping showed myocardial,hepatic,and pancreatic siderosis.Next-generation sequencing identified one missense variant in the PIEZO1 gene(C.2005G>T),which conferred HST and hyperferritinemia.We screened his close family members and identified his son as a heterozygous carrier of this variant,who had intermittent jaundice.Conclusion:In this case,the PIEZO1 c.2005G>T mutation conferred HST and IOC,complicated with choleithiasis,DM,and low sex drive.Bronze skin,liver crrhosis,cardiomyopathy,and DM are red flags,while magnetic resonance imaging T2*mapping,blood iron metabolism markers,and gene testing are valuable in the diagnosis.展开更多
坐落于深圳南山区的西丽高尔夫俱乐部,自1995年建成运营以来,一直被认为是拥有出色设计,并维护得当的南中国球场典范。尽管如此,从去年开始,西丽高尔夫俱乐部请来著名的球场设计建造公司Golfplan进行36洞的升级改造计划。这个周期长达...坐落于深圳南山区的西丽高尔夫俱乐部,自1995年建成运营以来,一直被认为是拥有出色设计,并维护得当的南中国球场典范。尽管如此,从去年开始,西丽高尔夫俱乐部请来著名的球场设计建造公司Golfplan进行36洞的升级改造计划。这个周期长达四年的项目目的是为了迎接更激烈的高尔夫市场挑战,迎合更高的球场品质标准。设有国际标准的36洞球道,西丽高尔夫俱乐部由享誉国际的设计师Nelson、Wright and Haworth设计。A/B/C/D四个九洞球场依地势而建。展开更多
1 History A 10-year-old boy has suffered from headache for 1 week accompanied with diplopia. Laboratory test results showed AFP increased significantly. 2 Image Findings Unenhanced MRI revealed a round mass measuring ...1 History A 10-year-old boy has suffered from headache for 1 week accompanied with diplopia. Laboratory test results showed AFP increased significantly. 2 Image Findings Unenhanced MRI revealed a round mass measuring 4.2 cm × 2.0 cm with well-defined margin located in the pineal region. The lesion shows low signal on T1WI, slightly high signal on T2WI, and isosignal on T2-FLAER and DWI. The third ventricle dilation and hydrocephalus can be detected. There is no edema around the mass. On post-contrast images, the mass showed markedly and homogeneous enhancement without necrotic or cystic change.展开更多
BACKGROUND Herpes simplex virus(HSV)is a highly infectious pathogen that is easily transmitted via the bodily fluids of an infected individual.This virus usually affects individuals older than six months of age,and ra...BACKGROUND Herpes simplex virus(HSV)is a highly infectious pathogen that is easily transmitted via the bodily fluids of an infected individual.This virus usually affects individuals older than six months of age,and rarely causes lesions or symptoms in younger patients.CASE SUMMARY We present the case of a five-month-old healthy girl who presented with painful herpetic gingivostomatitis and perioral vesicles.We discuss the pathophysiology of primary HSV infection and the effect of maternal antibodies on the infant’s immune system.In addition,we explain the diagnosis,management,and prognosis of HSV infection in young infants.CONCLUSION This case highlights the importance of early diagnosis and management of HSV infections to decrease the risk of developing severe complications and death.展开更多
AIM: Genetic polymorphism in enzymes of carcinogen metabolism has been found to have the influence on the susceptibility to cancer. Cytochrome P450 2E1 (CYP2E1) is considered to play an important role in the metabolic...AIM: Genetic polymorphism in enzymes of carcinogen metabolism has been found to have the influence on the susceptibility to cancer. Cytochrome P450 2E1 (CYP2E1) is considered to play an important role in the metabolic activation of procarcinogens such as N-nitrosoamines and low molecular weight organic compounds. The purpose of this study is to determine whether CYP450 2E1 polymorphisms are associated with risks of gastric cancer. METHODS: We conducted a population based case-control study in Changle county, Fujian Province, a high-risk region of gastric cancer in China. Ninety-one incident gastric cancer patients and ninety-four healthy controls were included in our study. Datas including demographic characteristics, diet intake, and alcohol and tobacco consumption of individuals in our study were completed by a standardized questionnaire.PCR-RFLP revealed three genotypes:heterozygote (C1/C2) and two homozygotes (C1/C1 and C2/C2) in CYP2E1. RESULTS: The frequency of variant genotypes (C1/C2 and C2/C2) in gastric cancer cases and controls was 36.3% and 24.5%, respectively. The rare homozygous C2/C2 genotype was found in 6 individuals in gastric cancer group(6.6%), whereas there was only one in the control group (1.1%). However, there was no statistically significant difference between the two groups (two-tailed Fisher's exact test P=0.066). Individuals in gastric cancer group were more likely to carry genotype C1/C2 (odds ratio, OR=1.50) and C2/C2 (OR=7.34) than individuals in control group (chi(2) =4.597, for trend P=0.032). The frequencies of genotypes with the C2 allele (C1/C2 and C2/C2 genotypes) were compared with those of genotypes without C2 allele (C1/C1 genotype) among individuals in gastric cancer group and control group according to the pattern of gastric cancer risk factors. The results show that individuals who exposed to these gastric cancer risk factors and carry the C2 allele seemed to have a higher risk of developing gastric cancer. CONCLUSION: Polymorphism of CYP2E1 gene may have some effect in 展开更多
基金The Undergraduate Research Project on Innovation and Entrepreneurship at Southern Medical University(No.2023YXYDC028).
文摘We reported a case of an overweight 34-year-old woman who unexpectedly became pregnant while undergoing semaglutide in early pregnancy and delivered a healthy male infant by caesarean section at 37 weeks and 4 days of gestation.Until now,the safety of semaglutide for use during pregnancy was unknown.This report may contribute to the limited knowledge available on pregnant women exposure to semaglutide.
基金Supported by the National Science Foundation of China,Nos.81770624 and 81860490Foundation of Jiangxi Educational Committee,No.GJJ160048Foundation of Health and Family Planning Commission of Jiangxi Province,No.20171098
文摘BACKGROUND Synchronous multiple primary cancers (SMPC) mean two or more malignant tumors occurring simultaneously and with different origins no matter what types they are or where they are located. The carcinogenesis of SMPC often involves variations of some specific genes. However, the correlation between CDH1 mutations and synchronous multiple primary gastrointestinal cancers is largely unknown. CASE SUMMARY A 62-year-old woman had sustained abdominal pain for one week and visited our hospital. Gastrointestinal endoscopy revealed multiple small polypoid lesions in both the stomach and colorectum. Computed tomography and laboratory results were within normal limits. Pathological evaluation confirmed signet ring cell carcinoma without obvious metastatic evidence. Malignant cells showed negativity for E-cadherin and positivity for β-catenin in the cytoplasm and nucleus. DNA sequencing performed on paraffin-embedded tissue revealed two exactly coincident alterations in CDH1, C.57T>G and C.1418A>T. CONCLUSION This case suggests that the combination of CDH1 mutations and WNT/β-catenin signaling activation contributes to the carcinogenesis of gastrointestinal SMPC.
基金Supported by A grant from the National R&D Program for Cancer Control,Ministry of Health and Welfare,South Korea,No.1120330
文摘AIM: To evaluate the association between genetic polymorphisms of the gene encoding AMP-activated protein kinase (PRKAA1) and the risk of gastric cancer.
基金the National Natural Science Foundation of China,No.81570468
文摘BACKGROUND Pediatric recurrent acute liver failure(RALF) with recovery between episodes is rare. Causes include autoimmune disease, which may flare and subside;intermittent exposure to toxins, as with ingestions; and metabolic disorders,among them the fever-associated crises ascribed to biallelic mutations in SCYL1,with RALF beginning in infancy. SCYL1 disease manifest with RALF, as known to date, includes central and peripheral neurologic and muscular morbidity(hepatocerebellar neuropathy syndrome). Primary ventilatory and skeletal diseases also have been noted in some reports.CASE SUMMARY We describe a Han Chinese boy in whom fever-associated RALF began at age 14 mo. Bilateral femoral head abnormalities and mild impairment of neurologic function were first noted aged 8 years 6 mo. Liver biopsy after the third RALF episode(7 years) and during resolution of the fourth RALF episode(8 years 6 mo) found abnormal architecture and hepatic fibrosis, respectively. Whole-exome sequencing revealed homozygosity for the novel frameshift mutation c.92_93 insGGGCCCT, p.(H32 Gfs~*20) in SCYL1(parental heterozygosity confirmed).CONCLUSION Our findings expand the mutational and clinical spectrum of SCYL1 disease. In our patient a substantial neurologic component was lacking and skeletal disease was identified relatively late.
基金Supported by National Natural Science Foundation of China,No.81501817 and No.81671836Natural Science Youth Foundation of Jiangsu Province,No.BK20151029the Key Laboratory for Laboratory Medicine of Jiangsu Province of China,No.ZDXKB2016005
文摘BACKGROUND Cardiac toxic effect of tegafur(S-1) is extremely rare, and there has been no report on this issue so far.CASE SUMMARY We herein report a typical case of single S-1 administration after radical operation for colon cancer. The patient had no background or medical history of acute coronary syndrome(ACS), and only aortic and coronary atherosclerosis was revealed by computed tomography(CT) before surgery. He complained of sternum pain during the fifth cycle of S-1 treatment. Electrocardiogram(ECG)and serum cardiac marker cardiac troponin T(cTnT) strongly suggested ACS,which was possibly caused by S-1 cardiotoxicity.CONCLUSION Monitoring protocols based on ECG, CT, and cTnT should be performed in real time to evaluate cardiac function during S-1 administration.
基金Supported by Mahidol University Research Grant,Nos.R015810001and 016120003(to Nattachet Plengvidhya)Siriraj Research Grant for Research and Development,Faculty of Medicine Siriraj Hospital,Mahidol University,No.R015934015(to Tassanee Narkdontri and Watip Tangjittipokin)Thailand Research Fund grants,Nos.TRG5780113(to Watip Tangjittipokin),BRG5280008(to Nattachet Plengvidhya),and IRG5980006(to Pa-thai Yenchitsomanus)
文摘BACKGROUND Maturity-onset diabetes of the young(MODY)is the most common form of monogenic diabetes.The disease is transmitted in autosomal dominant mode and diabetes is usually diagnosed before age 25 year.MODY 3 is caused by mutation of hepatocyte nuclear factor(HNF)1A genes and is the most common MODY subtype.Diagnosis of MODY 3 is crucial since glycemic control can be accomplished by very low dose of sulfonylurea.In this report we described a Thai MODY 3 patient who had excellence plasma glucose control by treating with glicazide 20 mg per day and insulin therapy can be discontinued.CASE SUMMARY A 31-year-old woman was diagnosed diabetes mellitus at 14 years old.The disease was transmitted from her grandmother and mother compatible with autosomal dominant inheritance.Sanger sequencing of proband’s DNA identified mutation of HNF1A at codon 203 which changed amino acid from arginine to cysteine(R203C).This mutation was carried only by family members who have diabetes.The patient has been treated effectively with a combination of oral hypoglycemic agents and must include a very low dose of glicazide(20 mg/d).Insulin therapy was successfully discontinued.CONCLUSION We demonstrated a first case of pharmacogenetics in Thai MODY 3 patient.Our findings underscore the essential role of molecular genetics in diagnosis and guidance of appropriate treatment of diabetes mellitus in particular patient.
基金Innovation Funding in Shanghai(Nos.20JC1418600 and 18JC1413100)National Nature Science Foundation of China(Nos.82071262 and 81671326)+2 种基金Natural Science Foundation of Shanghai(Nos.20ZR1427200 and 20511101900)Shanghai Municipal Science and Technology Major Project(No.2017SHZDZX01)Shanghai Leading Academic Discipline Project(No.B205).
文摘Objective: This study aimed to investigate the association between single-nucleotide polymorphisms (SNPs) ofPCSK1 (proprotein convertase subtilisin/kexin type 1) related to obesity and nonalcoholic fatty liver disease (NAFLD).Methods: In this case-control observational study, four candidate SNPs (rs6234, rs155971, rs6232, rs3811951) ofPCSK1 were genotyped in 732 NAFLD patients and 823 healthy control participants, all of whom were of ethnic Han Chinese descent. All participants came from Shanghai, China, and joined our study during 2015 to 2016. The frequencies of each allele and genotype, paired linkage disequilibrium, and haplotype were calculated on the SHEsis platform. In addition to SHEsis, five different genetic models (codominant, dominant, recessive, overdominant, and log-additive) were employed to identify the correlation between genotype frequency and NAFLD. This study was approved by the Medical Ethics Committee of Shanghai University of Traditional Chinese Medicine (approved No. 2017LCSY069).Results: In a comparison of NAFLD patients and healthy participants, none of the fourPCSK1 SNPs were significantly correlated with the occurrence of NAFLD (P>0.05), in either genotypic or allelic distribution. The recessive model of rs3811951 appeared to show a correlation (odds ratio=1.077;95% confidence interval=0.924-1.256;P=0.04), but there was no statistical significance after Bonferroni correction (Pcorr>0.0125).Conclusions: Four obesity-relatedPCSK1 SNPs (rs6234, rs155971, rs6232, rs3811951) showed no significant correlation with the development of NAFLD in a Han Chinese population.
基金National Natural Science Foundation of China(Nos.31401071 and 81570960)。
文摘Introduction:Muir-Torre syndrome is a phenotypic variant of Lynch syndrome characterized by a predisposition for the development of visceral malignant disease and sebaceous gland neoplasms,and it is caused by germline mutations in the mismatch repair genesMSH2 andMLH1.Case presentation:The proband was a 42-year-old man who had undergone surgical resection of colorectal adenocarcinoma at 28 years.He presented with macular rashes and red papule.Histological examination of the lesion on his head revealed a sebaceoma at 37 years.Follow-up of the family history revealed that the proband’s 65-year-old mother had been highly suspected to have Lynch syndrome with colorectal cancer at 40 years of age.The proband’s daughter underwent colonoscopy because of blood in the stool at the age of 13 years,but no abnormalities were found.Discussion:We have herein reported a pathogenic missense mutation c.199G>A(p.Gly67Arg)in exon 2 ofMLH1 in patients with MTS.This mutation has been reported in patients with Lynch syndrome who have no skin tumors.However,we also found that some patients with MTS had no history of any internal malignancy or skin tumor.Our data support the idea that a hiatus of many years may pass before both elements-a sebaceous neoplasm and an internal cancer-are present in a patient,thus finally allowing the diagnosis of MTS.Conclusion:A pathogenic Lynch syndrome mutation c.199G>A in exon 2 of theMLH1 gene was found in a patient with MTS who presented with a sebaceous neoplasm.
基金the National Natural Science Foundation of China(82072144,82072141,and 82002017)the National Key Research and Development Program of China(2017YFC1308303)+2 种基金Key R&D Program of Shandong Province(2019GSF108261)Natu-ral Science Foundation of Shandong Province.(ZR2020MH030)Clinical Research Foundation of Shandong University(2020SDUCRCC014).
文摘Background:Cardiomyopathy has a variety of etiologies.Here,we report a case of iron overload cardiomyopathy(IOC)in combination with hereditary stomatocytosis(HST)due to a rare mutation in the PIEZO1 gene.Case summary:A 31-year-old man presented to the clinic with a new onset of fatigue and abdominal distension.He had a history of 9-year cholelithiasis,4-year hemolytic anemia,7-month diabetes mellitus(DM),and 6-month low sex drive.The specific features of bronze skin,liver palms,yellow eyes,DM,and cardiomyopathy raised our suspicion of hemochromatosis,which was confirmed by an elevated serum ferritin concentration and high transferrin saturation.Echocardiography and cardiovascular magnetic resonance(CMR)imaging demonstrated dilation of all cardiac cavities with a left ventricular ejection fraction of 30%.CMR T2*mapping showed myocardial,hepatic,and pancreatic siderosis.Next-generation sequencing identified one missense variant in the PIEZO1 gene(C.2005G>T),which conferred HST and hyperferritinemia.We screened his close family members and identified his son as a heterozygous carrier of this variant,who had intermittent jaundice.Conclusion:In this case,the PIEZO1 c.2005G>T mutation conferred HST and IOC,complicated with choleithiasis,DM,and low sex drive.Bronze skin,liver crrhosis,cardiomyopathy,and DM are red flags,while magnetic resonance imaging T2*mapping,blood iron metabolism markers,and gene testing are valuable in the diagnosis.
文摘坐落于深圳南山区的西丽高尔夫俱乐部,自1995年建成运营以来,一直被认为是拥有出色设计,并维护得当的南中国球场典范。尽管如此,从去年开始,西丽高尔夫俱乐部请来著名的球场设计建造公司Golfplan进行36洞的升级改造计划。这个周期长达四年的项目目的是为了迎接更激烈的高尔夫市场挑战,迎合更高的球场品质标准。设有国际标准的36洞球道,西丽高尔夫俱乐部由享誉国际的设计师Nelson、Wright and Haworth设计。A/B/C/D四个九洞球场依地势而建。
文摘1 History A 10-year-old boy has suffered from headache for 1 week accompanied with diplopia. Laboratory test results showed AFP increased significantly. 2 Image Findings Unenhanced MRI revealed a round mass measuring 4.2 cm × 2.0 cm with well-defined margin located in the pineal region. The lesion shows low signal on T1WI, slightly high signal on T2WI, and isosignal on T2-FLAER and DWI. The third ventricle dilation and hydrocephalus can be detected. There is no edema around the mass. On post-contrast images, the mass showed markedly and homogeneous enhancement without necrotic or cystic change.
基金Deanship of Scientific Research at Princess Nourah bint Abdulrahman University through the Fast-track Research Funding Program.
文摘BACKGROUND Herpes simplex virus(HSV)is a highly infectious pathogen that is easily transmitted via the bodily fluids of an infected individual.This virus usually affects individuals older than six months of age,and rarely causes lesions or symptoms in younger patients.CASE SUMMARY We present the case of a five-month-old healthy girl who presented with painful herpetic gingivostomatitis and perioral vesicles.We discuss the pathophysiology of primary HSV infection and the effect of maternal antibodies on the infant’s immune system.In addition,we explain the diagnosis,management,and prognosis of HSV infection in young infants.CONCLUSION This case highlights the importance of early diagnosis and management of HSV infections to decrease the risk of developing severe complications and death.
基金Supported by Natural Science Foundation of Fujian Province,China,No.C001009
文摘AIM: Genetic polymorphism in enzymes of carcinogen metabolism has been found to have the influence on the susceptibility to cancer. Cytochrome P450 2E1 (CYP2E1) is considered to play an important role in the metabolic activation of procarcinogens such as N-nitrosoamines and low molecular weight organic compounds. The purpose of this study is to determine whether CYP450 2E1 polymorphisms are associated with risks of gastric cancer. METHODS: We conducted a population based case-control study in Changle county, Fujian Province, a high-risk region of gastric cancer in China. Ninety-one incident gastric cancer patients and ninety-four healthy controls were included in our study. Datas including demographic characteristics, diet intake, and alcohol and tobacco consumption of individuals in our study were completed by a standardized questionnaire.PCR-RFLP revealed three genotypes:heterozygote (C1/C2) and two homozygotes (C1/C1 and C2/C2) in CYP2E1. RESULTS: The frequency of variant genotypes (C1/C2 and C2/C2) in gastric cancer cases and controls was 36.3% and 24.5%, respectively. The rare homozygous C2/C2 genotype was found in 6 individuals in gastric cancer group(6.6%), whereas there was only one in the control group (1.1%). However, there was no statistically significant difference between the two groups (two-tailed Fisher's exact test P=0.066). Individuals in gastric cancer group were more likely to carry genotype C1/C2 (odds ratio, OR=1.50) and C2/C2 (OR=7.34) than individuals in control group (chi(2) =4.597, for trend P=0.032). The frequencies of genotypes with the C2 allele (C1/C2 and C2/C2 genotypes) were compared with those of genotypes without C2 allele (C1/C1 genotype) among individuals in gastric cancer group and control group according to the pattern of gastric cancer risk factors. The results show that individuals who exposed to these gastric cancer risk factors and carry the C2 allele seemed to have a higher risk of developing gastric cancer. CONCLUSION: Polymorphism of CYP2E1 gene may have some effect in
