The well-known El Nio event, the abnormal increase of Equatorial sea surface temperature of the east Pacific Ocean exerts significant influence on the global-scale atmospheric circulation and climatical anomaly in var...The well-known El Nio event, the abnormal increase of Equatorial sea surface temperature of the east Pacific Ocean exerts significant influence on the global-scale atmospheric circulation and climatical anomaly in various areas. The El Nio events have been reported to result from an earlier-stage warm water accumulation in the west Pacific and the eastward transmission of Kelvin waves caused by the collapse of the SE trades, or rolated to the weakening of the trades led by decrease of SE Pacific high.展开更多
BACKGROUND Neonatal screening(NS)is a public health policy to identify genetic pathologies such as cystic fibrosis(CF),sickle cell disease,and other diseases.Sickle cell disea-se is the comprehensive term for a group ...BACKGROUND Neonatal screening(NS)is a public health policy to identify genetic pathologies such as cystic fibrosis(CF),sickle cell disease,and other diseases.Sickle cell disea-se is the comprehensive term for a group of hemoglobinopathies characterized by the presence of hemoglobin S.CF is an autosomal recessive multisystemic disease with pathophysiology involving deleterious mutations in the transmembrane re-gulatory gene that encodes a protein that regulates the activity of chloride and sodium channels in the cell surface epithelium.NS is crucial for early diagnosis and management,which ensures a better quality of life.AIM To report a case of the coexistence of sickle cell anemia(SCA)and CF and perform an integrative literature review.METHODS This is an observational study and a review of the literature focusing on two rare genetic pathologies identified simultaneously in NS from the perspective of a clinical case.The authors identified only 5 cases of SCA associated with CF.No clinical trials or review articles were identified considering the rarity of the coexistence of these two pathologies.RESULTS Herein,the authors reported the case of a girl who after undergoing NS on day 8 of life was diagnosed with SCA with an alteration in the dosage of immunoreactive trypsin.The diagnosis of CF was confirmed by the Coulometry Sweat Test.The rarity of the co-occurrence of these two severe genetic pathologies(CF and SCA)is a challenge for medical science.CONCLUSION This study adds to the few case reports present in the literature that highlight the identification of two severe diseases via NS.展开更多
Psoriasis is a prevalent inflammatory disease that shares chronic inflammation pathways with the pathophysiology of metabolic syndrome(MetS),type-2 diabetes mellitus and atherosclerosis.A high prevalence of steatosis ...Psoriasis is a prevalent inflammatory disease that shares chronic inflammation pathways with the pathophysiology of metabolic syndrome(MetS),type-2 diabetes mellitus and atherosclerosis.A high prevalence of steatosis and advanced liver fibrosis has been described in psoriasis.The influence of MetS and its compounds,patatin-like phospholipase domain containing 3 and transmembrane 6 superfamily member 2 gene polymorphisms and the cumulative dose of methotrexate(MTX)in the progression of steatotic disease are still under debate.A suitable new classification for psoriasis-related liver disease,under the umbrella of steatotic liver disease(SLD),might be evaluated due to the potential impact of MTX on liver steatosis.Considering the interplay between the MetS,steatosis and MTX,a new definition for this complex disease might be discussed since it is not entirely addressed under the umbrella of SLD and metabolic-dysfunction associated SLD.Hence,shortly,a discussion could be raised on the feasible term“Met-Drug SLD”,metabolic and drug-induced SLD,which comprises both metabolic dysfunction and drug-related SLD.This review aims to report the best evidence to accurately classify liver disease in psoriasis,considering the new definition of SLD,allowing appropriate management once it is carefully defined.展开更多
文摘The well-known El Nio event, the abnormal increase of Equatorial sea surface temperature of the east Pacific Ocean exerts significant influence on the global-scale atmospheric circulation and climatical anomaly in various areas. The El Nio events have been reported to result from an earlier-stage warm water accumulation in the west Pacific and the eastward transmission of Kelvin waves caused by the collapse of the SE trades, or rolated to the weakening of the trades led by decrease of SE Pacific high.
文摘BACKGROUND Neonatal screening(NS)is a public health policy to identify genetic pathologies such as cystic fibrosis(CF),sickle cell disease,and other diseases.Sickle cell disea-se is the comprehensive term for a group of hemoglobinopathies characterized by the presence of hemoglobin S.CF is an autosomal recessive multisystemic disease with pathophysiology involving deleterious mutations in the transmembrane re-gulatory gene that encodes a protein that regulates the activity of chloride and sodium channels in the cell surface epithelium.NS is crucial for early diagnosis and management,which ensures a better quality of life.AIM To report a case of the coexistence of sickle cell anemia(SCA)and CF and perform an integrative literature review.METHODS This is an observational study and a review of the literature focusing on two rare genetic pathologies identified simultaneously in NS from the perspective of a clinical case.The authors identified only 5 cases of SCA associated with CF.No clinical trials or review articles were identified considering the rarity of the coexistence of these two pathologies.RESULTS Herein,the authors reported the case of a girl who after undergoing NS on day 8 of life was diagnosed with SCA with an alteration in the dosage of immunoreactive trypsin.The diagnosis of CF was confirmed by the Coulometry Sweat Test.The rarity of the co-occurrence of these two severe genetic pathologies(CF and SCA)is a challenge for medical science.CONCLUSION This study adds to the few case reports present in the literature that highlight the identification of two severe diseases via NS.
文摘Psoriasis is a prevalent inflammatory disease that shares chronic inflammation pathways with the pathophysiology of metabolic syndrome(MetS),type-2 diabetes mellitus and atherosclerosis.A high prevalence of steatosis and advanced liver fibrosis has been described in psoriasis.The influence of MetS and its compounds,patatin-like phospholipase domain containing 3 and transmembrane 6 superfamily member 2 gene polymorphisms and the cumulative dose of methotrexate(MTX)in the progression of steatotic disease are still under debate.A suitable new classification for psoriasis-related liver disease,under the umbrella of steatotic liver disease(SLD),might be evaluated due to the potential impact of MTX on liver steatosis.Considering the interplay between the MetS,steatosis and MTX,a new definition for this complex disease might be discussed since it is not entirely addressed under the umbrella of SLD and metabolic-dysfunction associated SLD.Hence,shortly,a discussion could be raised on the feasible term“Met-Drug SLD”,metabolic and drug-induced SLD,which comprises both metabolic dysfunction and drug-related SLD.This review aims to report the best evidence to accurately classify liver disease in psoriasis,considering the new definition of SLD,allowing appropriate management once it is carefully defined.
