BACKGROUND Eccrine porocarcinoma(EPC)is a rare skin tumor that mainly affects the elderly population.Tumors often present with slow growth and a good prognosis.EPCs are usually distinguished from other skin tumors usi...BACKGROUND Eccrine porocarcinoma(EPC)is a rare skin tumor that mainly affects the elderly population.Tumors often present with slow growth and a good prognosis.EPCs are usually distinguished from other skin tumors using histopathology and immunohistochemistry.However,surgical management alone may be inadequate if the tumor has metastasized.However,currently,surgical resection is the most commonly used treatment modality.CASE SUMMARY A seventy-four-year-old woman presented with a slow-growing nodule in her left temporal area,with no obvious itching or pain,for more than four months.Histopathological examination showed small columnar and short spindle-shaped cells;thus,basal cell carcinoma was suspected.However,immunohistochemical analysis revealed the expression of cytokeratin 5/6,p63 protein,p16 protein,and Ki-67 antigen(40%),and EPC was taken into consideration.The skin biopsy was repeated,and hematoxylin and eosin staining revealed ductal differentiation in some cells.Finally,the patient was diagnosed with EPC,and Mohs micrographic surgery was performed.We adapted follow-up visits in a year and not found any recurrence of nodules.CONCLUSION This case report emphasizes the diagnosis and differentiation of EPC.展开更多
BACKGROUND Gitelman syndrome(GS)is a rare inherited autosomal recessive tubulopathy,characterized clinically by hypokalemia,hypomagnesemia,hypocalciuria,and metabolic alkalosis,and is caused by an inactivating mutatio...BACKGROUND Gitelman syndrome(GS)is a rare inherited autosomal recessive tubulopathy,characterized clinically by hypokalemia,hypomagnesemia,hypocalciuria,and metabolic alkalosis,and is caused by an inactivating mutation in SLC12A3.GS is prone to misdiagnosis when occurring simultaneously with hyperthyroidism.It is important to consider the possibility of other diseases when hyperthyroidism is combined with hypokalemia,which is difficult to correct.CASE SUMMARY A female patient with hyperthyroidism complicated with limb weakness was diagnosed with thyrotoxic hypokalemic periodic paralysis for 4 mo.However,the patient’s serum potassium level remained low despite sufficient potassium replacement and remission of hyperthyroidism.GS was confirmed by whole exome and Sanger sequencing.Gene sequencing revealed compound heterozygous mutations of c.488C>T(p.Thr163Met),c.2612G>A(p.Arg871His),and c.1171_1178dupGCCACCAT(p.Ile393fs)in SLC12A3.Protein molecular modeling was performed to predict the effects of the identified missense mutations.All three mutations cause changes in protein structure and may result in abnormal protein function.All previously reported cases of GS coexisting with autoimmune thyroid disease are reviewed.CONCLUSION We have identified a novel compound heterozygous mutation in SLC12A3.The present study provides new genetic evidence for GS.展开更多
A dense Ba0.5Sr0.5Co0.8Fe0.2O3-δ membrane tube was prepared by the extruding method. Furthermore, a membrane reactor with this tubular membrane was successfully applied to partial oxidation of methane (POM) reaction,...A dense Ba0.5Sr0.5Co0.8Fe0.2O3-δ membrane tube was prepared by the extruding method. Furthermore, a membrane reactor with this tubular membrane was successfully applied to partial oxidation of methane (POM) reaction, in which the separation of oxygen from air and the partial oxidation of methane are integrated in one process. At 875°C, 94% of methane conversion, 98% of CO selectivity, 95% of H2 selectivity, and as high as 8.8 mL/(min·cm2) of oxygen flux were obtained. In POM reaction condition, the membrane tube shows a very good stability.展开更多
The optical performance of a receiver has a great influence on the efficiency and stability of a solar thermal power system.Most of the literature focuses on the optical performance of receivers with different geometr...The optical performance of a receiver has a great influence on the efficiency and stability of a solar thermal power system.Most of the literature focuses on the optical performance of receivers with different geometric shapes,but less research is conducted on the effects of critical geometric parameters.In this paper,the commercial software TracePro was used to investigate the effects of some factors on a conical cavity receiver,such as the conical angle,the number of loops of the helical tube,and the distance between the focal point of the collector and the aperture.These factors affect the optical efficiency,the maximum heat flux density,and the light distribution in the conical cavity.The optical performance of the conical receiver was studied and analyzed using the Monte Carlo ray tracing method.To make a reliable simulation,the helical tube was attached to the inner wall of the cavity in the proposed model.The results showed that the amount of light rays reaching the helical tube increases with the increasing of the conical angle,while the optical efficiency decreases and the maximum heat flux density increases.The increase in the number of loops contributed to an increase in the optical efficiency and a uniform light distribution.The conical cavity receiver had an optimal optical performance when the focal point of the collector was near the aperture.展开更多
The aim of this study was to explore the differences between boys and girls in the diagnosis and clinical phenotypes of autism spectrum disorder(ASD) in China's mainland. Children diagnosed with ASD(n = 1064, 228 ...The aim of this study was to explore the differences between boys and girls in the diagnosis and clinical phenotypes of autism spectrum disorder(ASD) in China's mainland. Children diagnosed with ASD(n = 1064, 228 females) were retrospectively included in the analysis. All children were assessed using the Autism Diagnostic Interview-Revised(ADI-R) and Autism Diagnostic Observation Schedule(ADOS). The results showed that girls scored significantly higher in ADI-R socioemotional reciprocity than boys, and also scored lower in ADI-R and ADOS restricted and repetitive behaviors(RRBs). Meanwhile, the proportions of girls who satisfied the diagnostic cut-off scores in the ADI-R RRBs domain were lower than in boys(P / 0.05). Our results indicated that girls with ASD show greater socio-emotional reciprocity than boys. Girls also tended to show fewer RRBs than boys, and the type of RRBs in girls differ from those in boys. The ADI-R was found to be less sensitive in girls, particularly for assessment in the RRBs domain.展开更多
Introduction Purpura fulminans(PF)was first described in 18861 and is characterized as a rare syndrome with a rapidly progressive course of hemorrhagic infarction of the skin and soft tissue necrosis.It mainly occurs ...Introduction Purpura fulminans(PF)was first described in 18861 and is characterized as a rare syndrome with a rapidly progressive course of hemorrhagic infarction of the skin and soft tissue necrosis.It mainly occurs in children and rarely in adults.1 PF is a life-threatening disease that can be a clinical presentation of toxic shock syndrome(TSS).2 The most common infectious etiology is cocci,and routine use of antibiotics for this disease is well recognized.However,another etiology,influenza virus,is often neglected.We herein report a case involving an older patient with TSS presenting with PF,in which Streptococcus pyogenes(S.pyogenes)accompanied by influenza virus might have played an important role,in order to arise the attention of clinician to the infection of the influenza virus in the pathogenesis of TSS.展开更多
文摘BACKGROUND Eccrine porocarcinoma(EPC)is a rare skin tumor that mainly affects the elderly population.Tumors often present with slow growth and a good prognosis.EPCs are usually distinguished from other skin tumors using histopathology and immunohistochemistry.However,surgical management alone may be inadequate if the tumor has metastasized.However,currently,surgical resection is the most commonly used treatment modality.CASE SUMMARY A seventy-four-year-old woman presented with a slow-growing nodule in her left temporal area,with no obvious itching or pain,for more than four months.Histopathological examination showed small columnar and short spindle-shaped cells;thus,basal cell carcinoma was suspected.However,immunohistochemical analysis revealed the expression of cytokeratin 5/6,p63 protein,p16 protein,and Ki-67 antigen(40%),and EPC was taken into consideration.The skin biopsy was repeated,and hematoxylin and eosin staining revealed ductal differentiation in some cells.Finally,the patient was diagnosed with EPC,and Mohs micrographic surgery was performed.We adapted follow-up visits in a year and not found any recurrence of nodules.CONCLUSION This case report emphasizes the diagnosis and differentiation of EPC.
基金Supported by the Science and Technology Plan of Health Commission of Jiangxi Province,No.202130648the Science and Technology Research Project of Department of Education of Jiangxi Province,No.GJJ201522.
文摘BACKGROUND Gitelman syndrome(GS)is a rare inherited autosomal recessive tubulopathy,characterized clinically by hypokalemia,hypomagnesemia,hypocalciuria,and metabolic alkalosis,and is caused by an inactivating mutation in SLC12A3.GS is prone to misdiagnosis when occurring simultaneously with hyperthyroidism.It is important to consider the possibility of other diseases when hyperthyroidism is combined with hypokalemia,which is difficult to correct.CASE SUMMARY A female patient with hyperthyroidism complicated with limb weakness was diagnosed with thyrotoxic hypokalemic periodic paralysis for 4 mo.However,the patient’s serum potassium level remained low despite sufficient potassium replacement and remission of hyperthyroidism.GS was confirmed by whole exome and Sanger sequencing.Gene sequencing revealed compound heterozygous mutations of c.488C>T(p.Thr163Met),c.2612G>A(p.Arg871His),and c.1171_1178dupGCCACCAT(p.Ile393fs)in SLC12A3.Protein molecular modeling was performed to predict the effects of the identified missense mutations.All three mutations cause changes in protein structure and may result in abnormal protein function.All previously reported cases of GS coexisting with autoimmune thyroid disease are reviewed.CONCLUSION We have identified a novel compound heterozygous mutation in SLC12A3.The present study provides new genetic evidence for GS.
基金This work was supported by the National High Technology Research and Development Program (Grant No. 715-006-0122)the "973" Project of the Ministry of Science and Technology, China (Grant No. G1999022401).
文摘A dense Ba0.5Sr0.5Co0.8Fe0.2O3-δ membrane tube was prepared by the extruding method. Furthermore, a membrane reactor with this tubular membrane was successfully applied to partial oxidation of methane (POM) reaction, in which the separation of oxygen from air and the partial oxidation of methane are integrated in one process. At 875°C, 94% of methane conversion, 98% of CO selectivity, 95% of H2 selectivity, and as high as 8.8 mL/(min·cm2) of oxygen flux were obtained. In POM reaction condition, the membrane tube shows a very good stability.
文摘The optical performance of a receiver has a great influence on the efficiency and stability of a solar thermal power system.Most of the literature focuses on the optical performance of receivers with different geometric shapes,but less research is conducted on the effects of critical geometric parameters.In this paper,the commercial software TracePro was used to investigate the effects of some factors on a conical cavity receiver,such as the conical angle,the number of loops of the helical tube,and the distance between the focal point of the collector and the aperture.These factors affect the optical efficiency,the maximum heat flux density,and the light distribution in the conical cavity.The optical performance of the conical receiver was studied and analyzed using the Monte Carlo ray tracing method.To make a reliable simulation,the helical tube was attached to the inner wall of the cavity in the proposed model.The results showed that the amount of light rays reaching the helical tube increases with the increasing of the conical angle,while the optical efficiency decreases and the maximum heat flux density increases.The increase in the number of loops contributed to an increase in the optical efficiency and a uniform light distribution.The conical cavity receiver had an optimal optical performance when the focal point of the collector was near the aperture.
基金supported by the National Natural Science Foundation of China (81471017)a Scientific Project of the Ministry of Health of China (201302002)
文摘The aim of this study was to explore the differences between boys and girls in the diagnosis and clinical phenotypes of autism spectrum disorder(ASD) in China's mainland. Children diagnosed with ASD(n = 1064, 228 females) were retrospectively included in the analysis. All children were assessed using the Autism Diagnostic Interview-Revised(ADI-R) and Autism Diagnostic Observation Schedule(ADOS). The results showed that girls scored significantly higher in ADI-R socioemotional reciprocity than boys, and also scored lower in ADI-R and ADOS restricted and repetitive behaviors(RRBs). Meanwhile, the proportions of girls who satisfied the diagnostic cut-off scores in the ADI-R RRBs domain were lower than in boys(P / 0.05). Our results indicated that girls with ASD show greater socio-emotional reciprocity than boys. Girls also tended to show fewer RRBs than boys, and the type of RRBs in girls differ from those in boys. The ADI-R was found to be less sensitive in girls, particularly for assessment in the RRBs domain.
文摘Introduction Purpura fulminans(PF)was first described in 18861 and is characterized as a rare syndrome with a rapidly progressive course of hemorrhagic infarction of the skin and soft tissue necrosis.It mainly occurs in children and rarely in adults.1 PF is a life-threatening disease that can be a clinical presentation of toxic shock syndrome(TSS).2 The most common infectious etiology is cocci,and routine use of antibiotics for this disease is well recognized.However,another etiology,influenza virus,is often neglected.We herein report a case involving an older patient with TSS presenting with PF,in which Streptococcus pyogenes(S.pyogenes)accompanied by influenza virus might have played an important role,in order to arise the attention of clinician to the infection of the influenza virus in the pathogenesis of TSS.