BACKGROUND Immature ovarian teratoma is a rare and aggressive neoplasm that affects young women.This report is the first to describe the development of immature teratoma after ovarian cystectomy for mature teratoma of...BACKGROUND Immature ovarian teratoma is a rare and aggressive neoplasm that affects young women.This report is the first to describe the development of immature teratoma after ovarian cystectomy for mature teratoma of the ovary in an adolescent female with a family history of ovarian teratoma.CASE SUMMARY A 16-year-old girl who had undergone bilateral ovarian cystectomy for mature teratomas 3 years ago showed bilateral adnexal tumors during her regular ultrasonography follow-up every 6 months.She received laparoscopic bilateral ovarian cystectomy,and final histopathology showed grade-1 immature teratoma of the left ovary and mature teratoma of the right ovary.Laparoscopic left salpingo-oophorectomy and staging procedures were performed again.Her mother,maternal aunt,and maternal grandmother had also received surgeries for mature ovarian teratomas.CONCLUSION It is important to have guidance on management of patient and family members with familial ovarian teratomas.展开更多
BACKGROUND Gastrointestinal stromal tumors(GISTs)are the most common mesenchymal tumors of the gastrointestinal(GI)tract,and cases of GISTs tend to be of the disseminated type,with a global incidence of 10 to 15 cases...BACKGROUND Gastrointestinal stromal tumors(GISTs)are the most common mesenchymal tumors of the gastrointestinal(GI)tract,and cases of GISTs tend to be of the disseminated type,with a global incidence of 10 to 15 cases/million each year.The rarer familial GISTs,which often represent a population,differ in screening,diagnosis,and treatment.Familial GISTs include primary familial GISTs with predominantly KIT/PDGFRA mutations and wild-type GISTs.However,whether the same genetic family has different phenotypes has not been reported.CASE SUMMARY We report two cases of rare GISTs in the same family:A male patient with the V561D mutation in exon 12 of the PDGFRA gene,who has been taking the targeted drug imatinib since undergoing surgery,and a female patient diagnosed with wild-type GIST,who has been taking imatinib for 3 years since undergoing surgery.The favorable prognosis of these patients during the 7-year follow-up period validates the accuracy of our treatment strategy,and we have refined the entire process of diagnosis and treatment of familial GISTs in order to better manage this rare familial disease.CONCLUSION Different mutation types of familial GISTs in the same family are very rare,thus it is very important to make the correct diagnosis and treatment strategies according to the results of molecular detection for the management of familial GISTs.展开更多
BACKGROUND Copy number variation(CNV)has become widely recognized in recent years due to the extensive use of gene screening in developmental disorders and epilepsy research.1q21.1 microduplication syndrome is a rare ...BACKGROUND Copy number variation(CNV)has become widely recognized in recent years due to the extensive use of gene screening in developmental disorders and epilepsy research.1q21.1 microduplication syndrome is a rare CNV disease that can manifest as multiple congenital developmental disorders,autism spectrum disorders,congenital malformations,and congenital heart defects with genetic heterogeneity.CASE SUMMARY We reported a pediatric patient with 1q21.1 microduplication syndrome,and carried out a literature review to determine the correlation between 1q21.1microduplication and its phenotypes.We summarized the patient’s medical history and clinical symptoms,and extracted genomic DNA from the patient,her parents,elder brother,and sister.The patient was an 8-mo-old girl who was hospitalized for recurrent convulsions over a 2-mo period.Whole exon sequencing and whole genome low-depth sequencing(CNV-seq)were then performed.Whole exon sequencing detected a 1.58-Mb duplication in the CHR1:145883867-147465312 region,which was located in the 1q21.1 region.Family analysis showed that the pathogenetic duplication fragment,which was also detected in her elder brother’s DNA originated from the mother.CONCLUSION Whole exon sequencing combined with quantitative polymerase chain reaction can provide an accurate molecular diagnosis in children with 1q21.1 microduplication syndrome,which is of great significance for genetic counseling and early intervention.展开更多
Through the combing of relevant literature and the analysis of relevant psychological students’cases,the composition of family factors affecting college students’mental health is analyzed,the specific manifestations...Through the combing of relevant literature and the analysis of relevant psychological students’cases,the composition of family factors affecting college students’mental health is analyzed,the specific manifestations of college students’psychological problems are summarized,and the influence of family factors on college students’mental health status is analyzed in detail.The article finally puts forward suggestions and recommendations for strengthening college students’family education and tries to explore how to promote college students’mental health through improving family education.展开更多
In theory, sustainable forest management (SFM) puts public participation at the epicenter of the decision-making process. However, in reality, the situation is different. The growing importance of public participation...In theory, sustainable forest management (SFM) puts public participation at the epicenter of the decision-making process. However, in reality, the situation is different. The growing importance of public participation seems essential for the implementation of sustainable forest management. The aim of this study is to assess the implementation of a theoretical concept closely related to SFM, integrated land and resource management (ILRM). This Canadian concept aims to integrate many forest functions using participatory tools. Using semi-structured interviews with experts, we clarify our theoretical concept and adapt it to reality. Our results show that better communication between stakeholders is necessary. It is also important to increase the flexibility of the timber harvest system and adapted forest zoning should be considered. A new concept, the forest culture, seems to be a key element that needs to be considered upstream of forest management. A new</span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">definition</span></span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">of ILRM is proposed</span></span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">in order to better</span></span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">reach social values.展开更多
Introduction: Finding the missing Tuberculosis (TB) cases remains the single most important priority for TB control in Nigeria. Between 66% - 92% of all cases of respiratory diseases including those with symptoms sugg...Introduction: Finding the missing Tuberculosis (TB) cases remains the single most important priority for TB control in Nigeria. Between 66% - 92% of all cases of respiratory diseases including those with symptoms suggestive of TB are first seen byprivate health providers. Dependable, quality surveillance systems and notification are key roles in health services delivery, particularly as it is related to TB control. However, poor notification has been a challenge. This study was to assess the contribution of the public private mix (PPM) to Nigeria Tuberculosis national case notification. Methods: It was a national cross-sectional study. Data were extracted from the National database and reviewed. Private facilities were engaged in 2017 and assessed over 2018-2020. Interventions included: enrolling private practitioners (Private-For-Profit, Faith Based Organization, Private Medicine Vendors and Community Pharmacists), engaging a private standalone Laboratory for Gene Xpert testing within the network of private facilities, use of Mobile App for easy screening and reporting, instituting a HUB and spoke, and incentives to private providers for participating. Each private provider had a customized approach. Trend analysis was performed using Cochran-Armitage χ<sup>2</sup> test for linear trends. Level of significance was at a p value of Results: Total case notification increased from 104,904 cases in 2017 to 138,591 in 2020. There were 2.0% increase in 2018, 13.0% in 2019 and 15.0% in 2020 (p < 0.001). PPM contribution to case notification increased from 10,699 cases in 2017 to 12,625 in 2018, then 17,250 in 2019 and 38,865 in 2020. There were 18.0% increase in 2018, 36.6% in 2019 and 125.3% increase in 2020 (p ). Conclusion: Effective engagement of the private sector in TB control efforts in Nigeria using a variety of approaches resulting in improved TB notification is possible. The National TB Programme should engage all private practitioners such that each practitioner will practice at least one TB service model.展开更多
Progressive familial intrahepatic cholestasis type 3 is caused by a mutation in the ATP-binding cassette, subfamily B, member 4 (ABCB4) gene encoding multidrug resistance protein 3. A 32-year-old woman with a history ...Progressive familial intrahepatic cholestasis type 3 is caused by a mutation in the ATP-binding cassette, subfamily B, member 4 (ABCB4) gene encoding multidrug resistance protein 3. A 32-year-old woman with a history of acute hepatitis at age 9 years was found to have jaundice during pregnancy in 2008, and was diagnosed as having intrahepatic cholestasis of pregnancy. In 2009, she underwent cholecystectomy for gallstones and chronic cholecystitis. However, itching and jaundice did not resolve postoperatively. She was admitted to our hospital with fatigue, jaundice, and a recently elevated γ-glutamyl transpeptidase level. Liver biopsy led to the diagnosis of biliary cirrhosis with ductopenia. Genetic testing revealed a pathogenic heterozygous mutation, ex13 c.1531G > A (p.A511 T), in the ABCB4 gene. Her father did not carry the mutation, but her mother's brother carried the heterozygous mutation. We made a definitivediagnosis of familial intrahepatic cholestasis type 3. He symptoms and liver function improved after 3 mo o treatment with ursodeoxycholic acid.展开更多
We report a case of double domino liver transplantation in a 32-year-old woman who was diagnosed with familial amyloid polyneuropathy(FAP) and liver dysfunction. A two-stage surgical plan was designed, and one domino ...We report a case of double domino liver transplantation in a 32-year-old woman who was diagnosed with familial amyloid polyneuropathy(FAP) and liver dysfunction. A two-stage surgical plan was designed, and one domino graft was implanted during each stage. During the firststage, an auxiliary domino liver transplantation was conducted using a domino graft from a 4-year-old female child with Wilson's disease. After removing the right lobe of the FAP patient's liver, the graft was rotated 90 degrees counterclockwise and placed along the right side of the inferior vena cava(IVC). The orifices of the left, middle, and right hepatic veins were reconstructed using an iliac vein patch and then anastomosed to the right side of the IVC. Thirty days later, a second domino liver graft was implanted. The second domino graft was from a 3-yearold female child with an ornithine carbamyl enzyme defect, and it replaced the residual native liver(left lobe). To balance the function and blood flow between the two grafts, a percutaneous transcatheter selective portal vein embolization was performed, and "the left portal vein" of the first graft was blocked 9 mo after the second transplantation. The liver function indices, blood ammonia, and 24-h urinary copper levels were normal at the end of a 3-year follow-up. These two domino donor grafts from donors with different metabolic disorders restored normal liver function. Our experience demonstrated a new approach for resolving metabolic disorders with domino grafts and utilizing explanted livers from children.展开更多
BACKGROUND Familial hemophagocytic lymphohistiocytosis type 2(FHL2)is a rare genetic disorder presenting with fever,hepatosplenomegaly,and pancytopenia secondary to perforin-1(PRF1)mutation.FLH2 has been described in ...BACKGROUND Familial hemophagocytic lymphohistiocytosis type 2(FHL2)is a rare genetic disorder presenting with fever,hepatosplenomegaly,and pancytopenia secondary to perforin-1(PRF1)mutation.FLH2 has been described in Chinese but usually presents after 1 year old.We describe a female Chinese neonate with FHL2 secondary to compound heterozygous PRF1 mutation with symptom onset before 1 mo old.We review Chinese FHL2 patients in the literature for comparison.CASE SUMMARY A 15-d-old female neonate was referred to our hospital for persistent fever and thrombocytopenia with diffuse petechiae.She was born to a G5P3 mother at 39 wk and 4 d via cesarean section secondary to breech presentation.No resuscitation was required at birth.She was described to be very sleepy with poor appetite since birth.She developed a fever up to 39.5°C at 7 d of life.Leukocytosis,anemia,and thrombocytopenia were detected at a local medical facility CONCLUSION A literature review identified 75 Chinese FHL2 patients,with only five presenting in the first year of life.Missense and frameshift mutations are the most common PRF1 mutations in Chinese,with 24.8%having c.1349C>T followed by 11.6%having c.65delC.The c.658G>C mutation has only been reported once in the literature and our case suggests it can be pathogenic,at least in the presence of another pathogenic mutation such as c.1066C>T.展开更多
BACKGROUND Most occurrences of type 1 diabetes cases in any population are sporadic rather than familial.Hence,type 1 diabetes among siblings is a rare occurrence.Even more rare is for three or more siblings to develo...BACKGROUND Most occurrences of type 1 diabetes cases in any population are sporadic rather than familial.Hence,type 1 diabetes among siblings is a rare occurrence.Even more rare is for three or more siblings to develop type 1 diabetes.In this report,we describe a case of a Nigerian family in which type 1 diabetes occurred in three siblings among four children with neither parent having diabetes.All three siblings are positive for glutamic acid decarboxylase and anti-islet cell antibodies.CASE SUMMARY There were four siblings(three males and one female)born to a couple without a diagnosis of diabetes.The eldest child(male)was diagnosed with diabetes at the age of 15,the second child(female)was diagnosed at the age of 11 and the fourth child(male)was diagnosed at the age of 9.All the siblings presented with similar osmotic symptoms and were diagnosed of diabetic ketoacidosis.All of them had markedly reduced serum C-peptide levels with high levels of glutamic acid decarboxylase and insulinoma-associated protein-2 antibodies.We could not perform genetic analysis of HLA-DR,DQ and CTLA4 in the siblings as well as the parents;hence haplotypes could not be characterized.Both parents of the probands have no prior history of diabetes,and their blood glucose and glycated hemoglobin levels were within normal ranges.The third child(male)has no history suggestive of diabetes,and his blood glucose and glycated hemoglobin have remained within normal ranges.CONCLUSION Although the occurrence of type 1 diabetes in proband siblings is uncommon,screening for diabetes among siblings especially with islet autoantibodies should be encouraged.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
Objective To study the relationship between polymorphism of cystathionine beta synthase (CBS) gene and development of congenital heart disease (CHD). Methods One hundred and twenty-seven CHD case-parent triads wer...Objective To study the relationship between polymorphism of cystathionine beta synthase (CBS) gene and development of congenital heart disease (CHD). Methods One hundred and twenty-seven CHD case-parent triads were recruited from Liaoning Province as patient group, and 129 healthy subjects without family history of birth defect were simultaneously recruited as control group together with their biological parents. For all subjects the polymorphism of CBS gene G919A locus was examined by PCR-ARMS method, Results The frequencies of three genotypes (w/w, w/m, and m/m) in control group were 27.2%, 58,4%, and 14.4%, respectively, with no significant difference in gender. A significant difference in the allele frequency was found between CHD patients and controls, the wild allele frequency was 67,9% in patients and 55.7% in controls CHD parents' genotype distribution was significantly different from that in controls. Further comparison of each type of CHD showed that genotype frequencies in several CHD subtypes were significantly different from those in their corresponding controls. The results of TDT analysis showed that no allele transmission disequilibrium existed in CHD nuclear families. Conclusions CBS gene G919A mutation is associated with the development of CHD, and the mutated allele may decrease the risk of CHD.展开更多
BACKGROUND: The etiology of insulinoma is poorly understood. Few studies investigated the possible roles of environmental factors and lifestyle in the pathogenesis of insulinoma. The aim of this study is to identify r...BACKGROUND: The etiology of insulinoma is poorly understood. Few studies investigated the possible roles of environmental factors and lifestyle in the pathogenesis of insulinoma. The aim of this study is to identify risk factors associated with occurrence of insulinoma in the Chinese population. METHODS: This study consisted of 196 patients with insulinoma and 233 controls. Demographic information of the patients and controls and risk factors of the disease were analyzed. Univariate and unconditional multivariable logistic regression analyses were made to estimate odds ratios (ORs) and possible risk factors. RESULTS: Approximately 68.88% (135/196) of the patients were from rural areas in contrast to 10.30% (24/233) of the controls (P【0.0001). This difference was confirmed by the multivariate analysis (OR=4.950; 95% CI: 2.928-8.370). Family history of pancreatic endocrine tumor (OR=16.754; 95% CI: 2.125-132.057) and other cancers (OR=2.360; 95% CI: 1.052-5.291) was also related to a high-risk population of insulinoma. CONCLUSION: Rural residents or people who have a family history of pancreatic endocrine tumor and other cancers are a high-risk population of insulinoma.展开更多
The paper studies on case-based reasoning of uncertain product attributes in configuration design of a product family. Interval numbers characterize uncertain product attributes. By interpolating a number of certain v...The paper studies on case-based reasoning of uncertain product attributes in configuration design of a product family. Interval numbers characterize uncertain product attributes. By interpolating a number of certain values randomly to replace interval numbers and making projection pursuit analysis on source cases and target cases of expanded numbers, we can get a projection value in the optimal projection direction. Based on projection value, we can construct a case retrieval model of projection pursuit that can handle coexisting certain and uncertain product attributes. The application examples of chainsaw configuration design show that case retrieval is highly sensitive to reliable results.展开更多
Background: There is a high variability in the reasons for cancellation of elective urological surgery cases. Case cancellation rate is expected to be high in the Public Health System with perceived inefficiencies com...Background: There is a high variability in the reasons for cancellation of elective urological surgery cases. Case cancellation rate is expected to be high in the Public Health System with perceived inefficiencies compared to private facilities in the same developing economy. Aims and Objectives: This comparative analysis was to determine the case cancellation rate and the reasons for cancellation of elective urological surgeries in a public tertiary hospital and a private specialist hospital in Accra. This is intended to form a basis for interventions aimed at reducing the case cancellation rate. Methods: This was a retrospective analysis of prospectively collected data on Day of Surgery cancelled elective urological cases from September 2014 to October 2015 at the urology unit of the Korle-Bu Teaching Hospital (KBTH), a public Tertiary Hospital and the Trust Specialist Hospital (TSH), a privately managed hospital in Accra. The reasons for case cancellation were categorized into structural factors, patient factors and process factors. Results: There was no significant difference between the case cancellation rate for elective urological cases at KBTH and the TSH which were 20.8% and 17.1% respectively (p = 0.317). For KBTH, the reasons for cancellation of elective urological cases were due to structural factors in 11/117 (9.4%), patient factors in 15/117 (12.8%) and process factors in 91/117 (77.8%) which was due mainly to surgery running late. At the TSH, the reasons were due to structural factors in 1/29 (3.4%), patient factors in 27/29 (93.1%) mainly due to patient not turning up and process factors in 1/29 (3.4%). Conclusion: The case cancellation rate of elective urological surgeries in both the Public Tertiary Hospital and the Private Specialist Hospital were high with no significant difference between the two. However, in the Public Tertiary Hospital, process factors predominated as the cause of these cancellations while patient factors were the predominant cause in the privately managed facility. Exposure of theater managers in public facilities to management practices in privately run facilities should be encouraged to help improve the efficiency of the public facilities.展开更多
Objective:we want to explore values and methods of public participation in land use planning through analysis on values of public participation and case of Ji'an County in Jiangxi Province.Methods:document and dat...Objective:we want to explore values and methods of public participation in land use planning through analysis on values of public participation and case of Ji'an County in Jiangxi Province.Methods:document and data method,case analysis method,qualitative and quantitative combined methods.Results:public participation in land use plays a positive role in improving science and practice of planning.Conclusions:preparation and implementation of land use planning should manifest human-oriented,public participation,wisdom of the masses,scientific demonstration,and democratic decision-making.展开更多
In the present research, a factorial ecological approach using factor analysis was employed to evaluate the dimensionality of the urban social structure of the twin city: Ramallah and Al-Bireh, West Bank, the Palestin...In the present research, a factorial ecological approach using factor analysis was employed to evaluate the dimensionality of the urban social structure of the twin city: Ramallah and Al-Bireh, West Bank, the Palestinian Authority. Through factor analysis, the 41 variables were reduced to four factors with an eigenvalue > 1.0. These factors explain 77.07 percent of the total variables used in the study. Factor I contributes 28.419% of the total variance proportion of input variables, labeled as “family, housing, and public spaces factor”. Factor II accounts for 19.57% of the variance proportion, designated as” housing and urban public spaces”. Factor III is strongly correlated with variables referring to the characteristics of the head of the family, and the availability of public spaces, and thus, is designated as “head of the family and public spaces”. It explains 16.68% of the total variance. Finally, factor IV explains 12.406% of variance proportion, and is strongly associated with variables pertaining to a lack of public social spaces. Consequently, factor IV is termed “lack of public spaces”. The spatial distribution of factor scores related to factors I to IV was mapped using Arc GIS in order to analyze the spatial patterns of the recognized four factors. It is worth noting the factor IV, which refers to the lack of urban social space and, urban public space, which persists in the twin city, and will continue to persist in the future. The lack of urban open space and public social spaces is closely connected to migration, emerged housing pattern, and family status dimensions focused on factors I to III, continuous confiscation of the Palestinian lands, and the construction of Israeli settlements. Currently, the twin city is extremely overcrowded with stone/concrete buildings at the expense of public space which has declined continuously over the last three decades. Nevertheless, the analyzed spatial pattern of factor scores indicated the homogeneous character of the urban society of the twin city. Based on the urban eco-logical models which seek to characterize the Western, non-Western, Israeli, and Arab-oil producing (e.g., Kuwait) urban structures, it is difficult to elaborate a specific Palestinian urban ecological model with reference to the models developed elsewhere.展开更多
BACKGROUND A 46-year-old Han man first had sigmoid sinus and transverse sinus venous thrombosis at the age of 42.At the age of 44,he once again developed thrombosis.Genetic testing showed heterozygous SERPINC1 mutatio...BACKGROUND A 46-year-old Han man first had sigmoid sinus and transverse sinus venous thrombosis at the age of 42.At the age of 44,he once again developed thrombosis.Genetic testing showed heterozygous SERPINC1 mutation,bone marrow biopsy showed fibrosis grade 1(MF-1),and JAK2 V617F mutation was positive,accompanied by UGT1A1 mutation andβ-thalassemia gene mutation.CASE SUMMARY A 46-year-old Han man was first found to have sigmoid sinus and transverse sinus venous thrombosis at the age of 42 but had no individual or family thrombosis history,and he had been regularly taking warfarin anticoagulant therapy for a long period of time.At the age of 44,venous thrombosis reappeared in parts of the intrahepatic vein,main portal vein,splenic vein,and superior mesenteric vein,and his spleen was obviously enlarged.He had a history of jaundice for many years,and genetic testing revealed that he carried a heterozygous SERPINC1 mutation.Bone marrow biopsy showed multifocal fibrous tissue hyperplasia among trabeculae and focal fibrosis.He was positive for the JAK2 V617F mutation.At the same time,UGT1A1 andβ-thalassemia gene mutations existed,and a SERPINC1 mutation and UGT1A1 mutation were both found in his parents.CONCLUSION The patient in this case had thrombophilia as the primary symptom,JAK2V617-positive myeloproliferative neoplasm(MPN)was the main potential cause,and hereditary AT-III deficiency may have been one of multiple secondary causes.It remains to be determined whether UGT1A1 andβ-thalassemia gene mutations are related to thrombophilia.However,the clinical features of MPN in this patient were hidden,and the relevant clinical features of coexisting thalassemia and hereditary Gilbert syndrome,reported here for the first time domestically and abroad,were complicating factors,causing great difficulties for a clear diagnosis.Thus,when thrombophilia has been determined,it is necessary to screen the relevant latent problems overall.When the clinical features cannot be perfectly explained by one etiology,a relevant comprehensive examination should also be initiated from the perspective of multiple etiologies.展开更多
BACKGROUND Immunohistochemical(IHC)staining for mismatch repair(MMR)proteins is useful for gastric cancer treatment and prognosis.Different IHC staining patterns reflect the complex biological phenomena underlying MMR...BACKGROUND Immunohistochemical(IHC)staining for mismatch repair(MMR)proteins is useful for gastric cancer treatment and prognosis.Different IHC staining patterns reflect the complex biological phenomena underlying MMR deficiency.We herein report a rare IHC staining pattern of four MMR-related proteins in gastric cancer.CASE SUMMARY A“null”IHC staining pattern of four MMR-related proteins,including MLH1,PMS2,MSH2,and MSH6,in a 67-year-old male patient with gastric cancer pT3N3aM0 revealed promoter hypermethylation of MLH1.Next-generation sequencing showed that these four genes exhibited changes.One of these was the somatic mutation of the missing copy number in exon 14 of MSH2.Mutation analysis using peripheral blood showed no germline mutations in these four genes.The patient had no history of personal or family tumor history.We classified this case as sporadic.The patient returned to normal after operation,and there were no signs of tumor metastasis and recurrence.After six cycles of adjuvant chemotherapy,the patient was discharged in a stable condition.The patient had a mild reaction to chemotherapy and a good prognosis.At present,16 mo after the operation,the patient's condition is stable.CONCLUSION Abnormal MMR protein expression,helpful for individualized follow-up care,helped identify a sporadic case lacking familial clinical management implications.展开更多
BACKGROUND Brugada syndrome(BrS)is an inherited disease characterized by an electrocardiogram(ECG)with a coved-type ST-segment elevation in the right precordial leads(V1-V3),which predisposes to sudden cardiac death(S...BACKGROUND Brugada syndrome(BrS)is an inherited disease characterized by an electrocardiogram(ECG)with a coved-type ST-segment elevation in the right precordial leads(V1-V3),which predisposes to sudden cardiac death(SCD)due to polymorphic ventricular tachycardia or ventricular fibrillation in the absence of structural heart disease.We report the case of a 29-year-old man with out-ofhospital cardiac arrest.BrS is associated with a high incidence of SCD in adults,and increasing the awareness of BrS and prompt recognition of the Brugada ECG pattern can be lifesaving.CASE SUMMARY A 29-year-old man suffered from out-of-hospital cardiac arrest,and after defibrillation,his ECG demonstrated a coved-type elevated ST segment in V1 and V2.These findings were compatible with type 1 Brugada pattern,and ECG of his brother showed a type 2 Brugada pattern.The diagnosis was BrS,NYHF IV,multiple organ dysfunction syndrome,sepsis,and hypoxic ischemic encephalopathy.The patient had no arrhythmia episodes after discharge throughout a follow-up period of 36 mo.CONCLUSION Increasing awareness of BrS and prompt recognition of the Brugada ECG pattern can be lifesaving.展开更多
文摘BACKGROUND Immature ovarian teratoma is a rare and aggressive neoplasm that affects young women.This report is the first to describe the development of immature teratoma after ovarian cystectomy for mature teratoma of the ovary in an adolescent female with a family history of ovarian teratoma.CASE SUMMARY A 16-year-old girl who had undergone bilateral ovarian cystectomy for mature teratomas 3 years ago showed bilateral adnexal tumors during her regular ultrasonography follow-up every 6 months.She received laparoscopic bilateral ovarian cystectomy,and final histopathology showed grade-1 immature teratoma of the left ovary and mature teratoma of the right ovary.Laparoscopic left salpingo-oophorectomy and staging procedures were performed again.Her mother,maternal aunt,and maternal grandmother had also received surgeries for mature ovarian teratomas.CONCLUSION It is important to have guidance on management of patient and family members with familial ovarian teratomas.
基金National Natural Science Foundation of China,No.82160842Clinical Research Project of Research Fund of Gansu Provincial Hospital,No.23GSSYD-17General Program of the Joint Scientific Research Fund,No.23JRRA1521.
文摘BACKGROUND Gastrointestinal stromal tumors(GISTs)are the most common mesenchymal tumors of the gastrointestinal(GI)tract,and cases of GISTs tend to be of the disseminated type,with a global incidence of 10 to 15 cases/million each year.The rarer familial GISTs,which often represent a population,differ in screening,diagnosis,and treatment.Familial GISTs include primary familial GISTs with predominantly KIT/PDGFRA mutations and wild-type GISTs.However,whether the same genetic family has different phenotypes has not been reported.CASE SUMMARY We report two cases of rare GISTs in the same family:A male patient with the V561D mutation in exon 12 of the PDGFRA gene,who has been taking the targeted drug imatinib since undergoing surgery,and a female patient diagnosed with wild-type GIST,who has been taking imatinib for 3 years since undergoing surgery.The favorable prognosis of these patients during the 7-year follow-up period validates the accuracy of our treatment strategy,and we have refined the entire process of diagnosis and treatment of familial GISTs in order to better manage this rare familial disease.CONCLUSION Different mutation types of familial GISTs in the same family are very rare,thus it is very important to make the correct diagnosis and treatment strategies according to the results of molecular detection for the management of familial GISTs.
文摘BACKGROUND Copy number variation(CNV)has become widely recognized in recent years due to the extensive use of gene screening in developmental disorders and epilepsy research.1q21.1 microduplication syndrome is a rare CNV disease that can manifest as multiple congenital developmental disorders,autism spectrum disorders,congenital malformations,and congenital heart defects with genetic heterogeneity.CASE SUMMARY We reported a pediatric patient with 1q21.1 microduplication syndrome,and carried out a literature review to determine the correlation between 1q21.1microduplication and its phenotypes.We summarized the patient’s medical history and clinical symptoms,and extracted genomic DNA from the patient,her parents,elder brother,and sister.The patient was an 8-mo-old girl who was hospitalized for recurrent convulsions over a 2-mo period.Whole exon sequencing and whole genome low-depth sequencing(CNV-seq)were then performed.Whole exon sequencing detected a 1.58-Mb duplication in the CHR1:145883867-147465312 region,which was located in the 1q21.1 region.Family analysis showed that the pathogenetic duplication fragment,which was also detected in her elder brother’s DNA originated from the mother.CONCLUSION Whole exon sequencing combined with quantitative polymerase chain reaction can provide an accurate molecular diagnosis in children with 1q21.1 microduplication syndrome,which is of great significance for genetic counseling and early intervention.
文摘Through the combing of relevant literature and the analysis of relevant psychological students’cases,the composition of family factors affecting college students’mental health is analyzed,the specific manifestations of college students’psychological problems are summarized,and the influence of family factors on college students’mental health status is analyzed in detail.The article finally puts forward suggestions and recommendations for strengthening college students’family education and tries to explore how to promote college students’mental health through improving family education.
文摘In theory, sustainable forest management (SFM) puts public participation at the epicenter of the decision-making process. However, in reality, the situation is different. The growing importance of public participation seems essential for the implementation of sustainable forest management. The aim of this study is to assess the implementation of a theoretical concept closely related to SFM, integrated land and resource management (ILRM). This Canadian concept aims to integrate many forest functions using participatory tools. Using semi-structured interviews with experts, we clarify our theoretical concept and adapt it to reality. Our results show that better communication between stakeholders is necessary. It is also important to increase the flexibility of the timber harvest system and adapted forest zoning should be considered. A new concept, the forest culture, seems to be a key element that needs to be considered upstream of forest management. A new</span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">definition</span></span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">of ILRM is proposed</span></span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">in order to better</span></span></span><span><span><span style="font-family:""> </span></span></span><span style="font-family:Verdana;"><span style="font-family:Verdana;"><span style="font-family:Verdana;">reach social values.
文摘Introduction: Finding the missing Tuberculosis (TB) cases remains the single most important priority for TB control in Nigeria. Between 66% - 92% of all cases of respiratory diseases including those with symptoms suggestive of TB are first seen byprivate health providers. Dependable, quality surveillance systems and notification are key roles in health services delivery, particularly as it is related to TB control. However, poor notification has been a challenge. This study was to assess the contribution of the public private mix (PPM) to Nigeria Tuberculosis national case notification. Methods: It was a national cross-sectional study. Data were extracted from the National database and reviewed. Private facilities were engaged in 2017 and assessed over 2018-2020. Interventions included: enrolling private practitioners (Private-For-Profit, Faith Based Organization, Private Medicine Vendors and Community Pharmacists), engaging a private standalone Laboratory for Gene Xpert testing within the network of private facilities, use of Mobile App for easy screening and reporting, instituting a HUB and spoke, and incentives to private providers for participating. Each private provider had a customized approach. Trend analysis was performed using Cochran-Armitage χ<sup>2</sup> test for linear trends. Level of significance was at a p value of Results: Total case notification increased from 104,904 cases in 2017 to 138,591 in 2020. There were 2.0% increase in 2018, 13.0% in 2019 and 15.0% in 2020 (p < 0.001). PPM contribution to case notification increased from 10,699 cases in 2017 to 12,625 in 2018, then 17,250 in 2019 and 38,865 in 2020. There were 18.0% increase in 2018, 36.6% in 2019 and 125.3% increase in 2020 (p ). Conclusion: Effective engagement of the private sector in TB control efforts in Nigeria using a variety of approaches resulting in improved TB notification is possible. The National TB Programme should engage all private practitioners such that each practitioner will practice at least one TB service model.
文摘Progressive familial intrahepatic cholestasis type 3 is caused by a mutation in the ATP-binding cassette, subfamily B, member 4 (ABCB4) gene encoding multidrug resistance protein 3. A 32-year-old woman with a history of acute hepatitis at age 9 years was found to have jaundice during pregnancy in 2008, and was diagnosed as having intrahepatic cholestasis of pregnancy. In 2009, she underwent cholecystectomy for gallstones and chronic cholecystitis. However, itching and jaundice did not resolve postoperatively. She was admitted to our hospital with fatigue, jaundice, and a recently elevated γ-glutamyl transpeptidase level. Liver biopsy led to the diagnosis of biliary cirrhosis with ductopenia. Genetic testing revealed a pathogenic heterozygous mutation, ex13 c.1531G > A (p.A511 T), in the ABCB4 gene. Her father did not carry the mutation, but her mother's brother carried the heterozygous mutation. We made a definitivediagnosis of familial intrahepatic cholestasis type 3. He symptoms and liver function improved after 3 mo o treatment with ursodeoxycholic acid.
基金Supported by Capital Special Program for Health Research and Development,No.2016-1-2021National Key Technologies R&D Program,No.2015BAI13B09+1 种基金The Training Program of Academic Leaders in Beijing Health System,No.2014-2-002Beijing Municipal Administration of Hospitals Ascent Plan,No.DFL20150101
文摘We report a case of double domino liver transplantation in a 32-year-old woman who was diagnosed with familial amyloid polyneuropathy(FAP) and liver dysfunction. A two-stage surgical plan was designed, and one domino graft was implanted during each stage. During the firststage, an auxiliary domino liver transplantation was conducted using a domino graft from a 4-year-old female child with Wilson's disease. After removing the right lobe of the FAP patient's liver, the graft was rotated 90 degrees counterclockwise and placed along the right side of the inferior vena cava(IVC). The orifices of the left, middle, and right hepatic veins were reconstructed using an iliac vein patch and then anastomosed to the right side of the IVC. Thirty days later, a second domino liver graft was implanted. The second domino graft was from a 3-yearold female child with an ornithine carbamyl enzyme defect, and it replaced the residual native liver(left lobe). To balance the function and blood flow between the two grafts, a percutaneous transcatheter selective portal vein embolization was performed, and "the left portal vein" of the first graft was blocked 9 mo after the second transplantation. The liver function indices, blood ammonia, and 24-h urinary copper levels were normal at the end of a 3-year follow-up. These two domino donor grafts from donors with different metabolic disorders restored normal liver function. Our experience demonstrated a new approach for resolving metabolic disorders with domino grafts and utilizing explanted livers from children.
文摘BACKGROUND Familial hemophagocytic lymphohistiocytosis type 2(FHL2)is a rare genetic disorder presenting with fever,hepatosplenomegaly,and pancytopenia secondary to perforin-1(PRF1)mutation.FLH2 has been described in Chinese but usually presents after 1 year old.We describe a female Chinese neonate with FHL2 secondary to compound heterozygous PRF1 mutation with symptom onset before 1 mo old.We review Chinese FHL2 patients in the literature for comparison.CASE SUMMARY A 15-d-old female neonate was referred to our hospital for persistent fever and thrombocytopenia with diffuse petechiae.She was born to a G5P3 mother at 39 wk and 4 d via cesarean section secondary to breech presentation.No resuscitation was required at birth.She was described to be very sleepy with poor appetite since birth.She developed a fever up to 39.5°C at 7 d of life.Leukocytosis,anemia,and thrombocytopenia were detected at a local medical facility CONCLUSION A literature review identified 75 Chinese FHL2 patients,with only five presenting in the first year of life.Missense and frameshift mutations are the most common PRF1 mutations in Chinese,with 24.8%having c.1349C>T followed by 11.6%having c.65delC.The c.658G>C mutation has only been reported once in the literature and our case suggests it can be pathogenic,at least in the presence of another pathogenic mutation such as c.1066C>T.
文摘BACKGROUND Most occurrences of type 1 diabetes cases in any population are sporadic rather than familial.Hence,type 1 diabetes among siblings is a rare occurrence.Even more rare is for three or more siblings to develop type 1 diabetes.In this report,we describe a case of a Nigerian family in which type 1 diabetes occurred in three siblings among four children with neither parent having diabetes.All three siblings are positive for glutamic acid decarboxylase and anti-islet cell antibodies.CASE SUMMARY There were four siblings(three males and one female)born to a couple without a diagnosis of diabetes.The eldest child(male)was diagnosed with diabetes at the age of 15,the second child(female)was diagnosed at the age of 11 and the fourth child(male)was diagnosed at the age of 9.All the siblings presented with similar osmotic symptoms and were diagnosed of diabetic ketoacidosis.All of them had markedly reduced serum C-peptide levels with high levels of glutamic acid decarboxylase and insulinoma-associated protein-2 antibodies.We could not perform genetic analysis of HLA-DR,DQ and CTLA4 in the siblings as well as the parents;hence haplotypes could not be characterized.Both parents of the probands have no prior history of diabetes,and their blood glucose and glycated hemoglobin levels were within normal ranges.The third child(male)has no history suggestive of diabetes,and his blood glucose and glycated hemoglobin have remained within normal ranges.CONCLUSION Although the occurrence of type 1 diabetes in proband siblings is uncommon,screening for diabetes among siblings especially with islet autoantibodies should be encouraged.
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.
基金This work was supported by Major State Basic Research Development Program of the People's Republic of China (No. 2001CB510305).
文摘Objective To study the relationship between polymorphism of cystathionine beta synthase (CBS) gene and development of congenital heart disease (CHD). Methods One hundred and twenty-seven CHD case-parent triads were recruited from Liaoning Province as patient group, and 129 healthy subjects without family history of birth defect were simultaneously recruited as control group together with their biological parents. For all subjects the polymorphism of CBS gene G919A locus was examined by PCR-ARMS method, Results The frequencies of three genotypes (w/w, w/m, and m/m) in control group were 27.2%, 58,4%, and 14.4%, respectively, with no significant difference in gender. A significant difference in the allele frequency was found between CHD patients and controls, the wild allele frequency was 67,9% in patients and 55.7% in controls CHD parents' genotype distribution was significantly different from that in controls. Further comparison of each type of CHD showed that genotype frequencies in several CHD subtypes were significantly different from those in their corresponding controls. The results of TDT analysis showed that no allele transmission disequilibrium existed in CHD nuclear families. Conclusions CBS gene G919A mutation is associated with the development of CHD, and the mutated allele may decrease the risk of CHD.
基金supported by a grant from the Ministry of Health Key Lab Foundation (KLF2009011)
文摘BACKGROUND: The etiology of insulinoma is poorly understood. Few studies investigated the possible roles of environmental factors and lifestyle in the pathogenesis of insulinoma. The aim of this study is to identify risk factors associated with occurrence of insulinoma in the Chinese population. METHODS: This study consisted of 196 patients with insulinoma and 233 controls. Demographic information of the patients and controls and risk factors of the disease were analyzed. Univariate and unconditional multivariable logistic regression analyses were made to estimate odds ratios (ORs) and possible risk factors. RESULTS: Approximately 68.88% (135/196) of the patients were from rural areas in contrast to 10.30% (24/233) of the controls (P【0.0001). This difference was confirmed by the multivariate analysis (OR=4.950; 95% CI: 2.928-8.370). Family history of pancreatic endocrine tumor (OR=16.754; 95% CI: 2.125-132.057) and other cancers (OR=2.360; 95% CI: 1.052-5.291) was also related to a high-risk population of insulinoma. CONCLUSION: Rural residents or people who have a family history of pancreatic endocrine tumor and other cancers are a high-risk population of insulinoma.
文摘The paper studies on case-based reasoning of uncertain product attributes in configuration design of a product family. Interval numbers characterize uncertain product attributes. By interpolating a number of certain values randomly to replace interval numbers and making projection pursuit analysis on source cases and target cases of expanded numbers, we can get a projection value in the optimal projection direction. Based on projection value, we can construct a case retrieval model of projection pursuit that can handle coexisting certain and uncertain product attributes. The application examples of chainsaw configuration design show that case retrieval is highly sensitive to reliable results.
文摘Background: There is a high variability in the reasons for cancellation of elective urological surgery cases. Case cancellation rate is expected to be high in the Public Health System with perceived inefficiencies compared to private facilities in the same developing economy. Aims and Objectives: This comparative analysis was to determine the case cancellation rate and the reasons for cancellation of elective urological surgeries in a public tertiary hospital and a private specialist hospital in Accra. This is intended to form a basis for interventions aimed at reducing the case cancellation rate. Methods: This was a retrospective analysis of prospectively collected data on Day of Surgery cancelled elective urological cases from September 2014 to October 2015 at the urology unit of the Korle-Bu Teaching Hospital (KBTH), a public Tertiary Hospital and the Trust Specialist Hospital (TSH), a privately managed hospital in Accra. The reasons for case cancellation were categorized into structural factors, patient factors and process factors. Results: There was no significant difference between the case cancellation rate for elective urological cases at KBTH and the TSH which were 20.8% and 17.1% respectively (p = 0.317). For KBTH, the reasons for cancellation of elective urological cases were due to structural factors in 11/117 (9.4%), patient factors in 15/117 (12.8%) and process factors in 91/117 (77.8%) which was due mainly to surgery running late. At the TSH, the reasons were due to structural factors in 1/29 (3.4%), patient factors in 27/29 (93.1%) mainly due to patient not turning up and process factors in 1/29 (3.4%). Conclusion: The case cancellation rate of elective urological surgeries in both the Public Tertiary Hospital and the Private Specialist Hospital were high with no significant difference between the two. However, in the Public Tertiary Hospital, process factors predominated as the cause of these cancellations while patient factors were the predominant cause in the privately managed facility. Exposure of theater managers in public facilities to management practices in privately run facilities should be encouraged to help improve the efficiency of the public facilities.
文摘Objective:we want to explore values and methods of public participation in land use planning through analysis on values of public participation and case of Ji'an County in Jiangxi Province.Methods:document and data method,case analysis method,qualitative and quantitative combined methods.Results:public participation in land use plays a positive role in improving science and practice of planning.Conclusions:preparation and implementation of land use planning should manifest human-oriented,public participation,wisdom of the masses,scientific demonstration,and democratic decision-making.
文摘In the present research, a factorial ecological approach using factor analysis was employed to evaluate the dimensionality of the urban social structure of the twin city: Ramallah and Al-Bireh, West Bank, the Palestinian Authority. Through factor analysis, the 41 variables were reduced to four factors with an eigenvalue > 1.0. These factors explain 77.07 percent of the total variables used in the study. Factor I contributes 28.419% of the total variance proportion of input variables, labeled as “family, housing, and public spaces factor”. Factor II accounts for 19.57% of the variance proportion, designated as” housing and urban public spaces”. Factor III is strongly correlated with variables referring to the characteristics of the head of the family, and the availability of public spaces, and thus, is designated as “head of the family and public spaces”. It explains 16.68% of the total variance. Finally, factor IV explains 12.406% of variance proportion, and is strongly associated with variables pertaining to a lack of public social spaces. Consequently, factor IV is termed “lack of public spaces”. The spatial distribution of factor scores related to factors I to IV was mapped using Arc GIS in order to analyze the spatial patterns of the recognized four factors. It is worth noting the factor IV, which refers to the lack of urban social space and, urban public space, which persists in the twin city, and will continue to persist in the future. The lack of urban open space and public social spaces is closely connected to migration, emerged housing pattern, and family status dimensions focused on factors I to III, continuous confiscation of the Palestinian lands, and the construction of Israeli settlements. Currently, the twin city is extremely overcrowded with stone/concrete buildings at the expense of public space which has declined continuously over the last three decades. Nevertheless, the analyzed spatial pattern of factor scores indicated the homogeneous character of the urban society of the twin city. Based on the urban eco-logical models which seek to characterize the Western, non-Western, Israeli, and Arab-oil producing (e.g., Kuwait) urban structures, it is difficult to elaborate a specific Palestinian urban ecological model with reference to the models developed elsewhere.
文摘BACKGROUND A 46-year-old Han man first had sigmoid sinus and transverse sinus venous thrombosis at the age of 42.At the age of 44,he once again developed thrombosis.Genetic testing showed heterozygous SERPINC1 mutation,bone marrow biopsy showed fibrosis grade 1(MF-1),and JAK2 V617F mutation was positive,accompanied by UGT1A1 mutation andβ-thalassemia gene mutation.CASE SUMMARY A 46-year-old Han man was first found to have sigmoid sinus and transverse sinus venous thrombosis at the age of 42 but had no individual or family thrombosis history,and he had been regularly taking warfarin anticoagulant therapy for a long period of time.At the age of 44,venous thrombosis reappeared in parts of the intrahepatic vein,main portal vein,splenic vein,and superior mesenteric vein,and his spleen was obviously enlarged.He had a history of jaundice for many years,and genetic testing revealed that he carried a heterozygous SERPINC1 mutation.Bone marrow biopsy showed multifocal fibrous tissue hyperplasia among trabeculae and focal fibrosis.He was positive for the JAK2 V617F mutation.At the same time,UGT1A1 andβ-thalassemia gene mutations existed,and a SERPINC1 mutation and UGT1A1 mutation were both found in his parents.CONCLUSION The patient in this case had thrombophilia as the primary symptom,JAK2V617-positive myeloproliferative neoplasm(MPN)was the main potential cause,and hereditary AT-III deficiency may have been one of multiple secondary causes.It remains to be determined whether UGT1A1 andβ-thalassemia gene mutations are related to thrombophilia.However,the clinical features of MPN in this patient were hidden,and the relevant clinical features of coexisting thalassemia and hereditary Gilbert syndrome,reported here for the first time domestically and abroad,were complicating factors,causing great difficulties for a clear diagnosis.Thus,when thrombophilia has been determined,it is necessary to screen the relevant latent problems overall.When the clinical features cannot be perfectly explained by one etiology,a relevant comprehensive examination should also be initiated from the perspective of multiple etiologies.
文摘BACKGROUND Immunohistochemical(IHC)staining for mismatch repair(MMR)proteins is useful for gastric cancer treatment and prognosis.Different IHC staining patterns reflect the complex biological phenomena underlying MMR deficiency.We herein report a rare IHC staining pattern of four MMR-related proteins in gastric cancer.CASE SUMMARY A“null”IHC staining pattern of four MMR-related proteins,including MLH1,PMS2,MSH2,and MSH6,in a 67-year-old male patient with gastric cancer pT3N3aM0 revealed promoter hypermethylation of MLH1.Next-generation sequencing showed that these four genes exhibited changes.One of these was the somatic mutation of the missing copy number in exon 14 of MSH2.Mutation analysis using peripheral blood showed no germline mutations in these four genes.The patient had no history of personal or family tumor history.We classified this case as sporadic.The patient returned to normal after operation,and there were no signs of tumor metastasis and recurrence.After six cycles of adjuvant chemotherapy,the patient was discharged in a stable condition.The patient had a mild reaction to chemotherapy and a good prognosis.At present,16 mo after the operation,the patient's condition is stable.CONCLUSION Abnormal MMR protein expression,helpful for individualized follow-up care,helped identify a sporadic case lacking familial clinical management implications.
文摘BACKGROUND Brugada syndrome(BrS)is an inherited disease characterized by an electrocardiogram(ECG)with a coved-type ST-segment elevation in the right precordial leads(V1-V3),which predisposes to sudden cardiac death(SCD)due to polymorphic ventricular tachycardia or ventricular fibrillation in the absence of structural heart disease.We report the case of a 29-year-old man with out-ofhospital cardiac arrest.BrS is associated with a high incidence of SCD in adults,and increasing the awareness of BrS and prompt recognition of the Brugada ECG pattern can be lifesaving.CASE SUMMARY A 29-year-old man suffered from out-of-hospital cardiac arrest,and after defibrillation,his ECG demonstrated a coved-type elevated ST segment in V1 and V2.These findings were compatible with type 1 Brugada pattern,and ECG of his brother showed a type 2 Brugada pattern.The diagnosis was BrS,NYHF IV,multiple organ dysfunction syndrome,sepsis,and hypoxic ischemic encephalopathy.The patient had no arrhythmia episodes after discharge throughout a follow-up period of 36 mo.CONCLUSION Increasing awareness of BrS and prompt recognition of the Brugada ECG pattern can be lifesaving.