Recurring miscarriage(RM)is a frustrating reproductive complication with variable etiology.Numerous genetic defects have been known to play a crucial role in the etiology of RM.Chromosomal abnormalities are frequently...Recurring miscarriage(RM)is a frustrating reproductive complication with variable etiology.Numerous genetic defects have been known to play a crucial role in the etiology of RM.Chromosomal abnormalities are frequently detected,while other genetic defects cannot be diagnosed through routine research,such as cryptic chromosomal anomalies,single nucleotide polymorphism,single-gene defect,and gene copy number variation.Diagnostic laboratories have recently used variable advanced techniques to detect potential genetic abnormalities in couples with RM and/or in products of conception.Here we aim to summarize the known genetic causes of RM,with a focus on the new diagnostic techniques.Knowledge of the genetic profile of miscarriages is important for prognosis and potential counseling planning,as well as the prenatal diagnostic strategy in subsequent pregnancies.展开更多
BACKGROUND As research on diabetes continues to advance,more complex classifications of this disease have emerged,revealing the existence of special types of diabetes,and many of these patients are prone to misdiagnos...BACKGROUND As research on diabetes continues to advance,more complex classifications of this disease have emerged,revealing the existence of special types of diabetes,and many of these patients are prone to misdiagnosis and underdiagnosis,leading to treatment delays and increased health care costs.The purpose of this study was to identify four causes of secondary diabetes.CASE SUMMARY Secondary diabetes can be caused by various factors,some of which are often overlooked.These factors include genetic defects,autoimmune disorders,and diabetes induced by tumours.This paper describes four types of secondary diabetes caused by Williams–Beuren syndrome,Prader–Willi syndrome,pituitary adenoma,and IgG4-related diseases.These cases deviate significantly from the typical progression of the disease due to their low incidence and rarity,often leading to their neglect in clinical practice.In comparison to regular diabetes patients,the four individuals described here exhibited distinct characteristics.Standard hypoglycaemic treatments failed to effectively control the disease.Subsequently,a series of examinations and follow-up history confirmed the diagnosis and underlying cause of diabetes.Upon addressing the primary condition,such as excising a pituitary adenoma,providing glucocorticoid supplementation,and implementing symptomatic treatments,all patients experienced a considerable decrease in blood glucose levels,which were subsequently maintained within a stable range.Furthermore,other accompanying symptoms improved.CONCLUSION Rare diseases causing secondary diabetes are often not considered in the diag-nosis of diabetes.Therefore,it is crucial to conduct genetic tests,antibody detection and other appropriate diagnostic measures when necessary to facilitate early diagnosis and intervention through proactive and efficient management of the underlying condition,ultimately improving patient outcomes.展开更多
Mitochondria are essential for cellular function and viability,serving as central hubs of metabolism and signaling.They possess various metabolic and quality control mechanisms crucial for maintaining normal cellular ...Mitochondria are essential for cellular function and viability,serving as central hubs of metabolism and signaling.They possess various metabolic and quality control mechanisms crucial for maintaining normal cellular activities.Mitochondrial genetic disorders can arise from a wide range of mutations in either mitochondrial or nuclear DNA,which encode mitochondrial proteins or other contents.These genetic defects can lead to a breakdown of mitochondrial function and metabolism,such as the collapse of oxidative phosphorylation,one of the mitochondria’s most critical functions.Mitochondrial diseases,a common group of genetic disorders,are characterized by significant phenotypic and genetic heterogeneity.Clinical symptoms can manifest in various systems and organs throughout the body,with differing degrees and forms of severity.The complexity of the relationship between mitochondria and mitochondrial diseases results in an inadequate understanding of the genotype-phenotype correlation of these diseases,historically making diagnosis and treatment challenging and often leading to unsatisfactory clinical outcomes.However,recent advancements in research and technology have significantly improved our understanding and management of these conditions.Clinical translations of mitochondria-related therapies are actively progressing.This review focuses on the physiological mechanisms of mitochondria,the pathogenesis of mitochondrial diseases,and potential diagnostic and therapeutic applications.Additionally,this review discusses future perspectives on mitochondrial genetic diseases.展开更多
文摘Recurring miscarriage(RM)is a frustrating reproductive complication with variable etiology.Numerous genetic defects have been known to play a crucial role in the etiology of RM.Chromosomal abnormalities are frequently detected,while other genetic defects cannot be diagnosed through routine research,such as cryptic chromosomal anomalies,single nucleotide polymorphism,single-gene defect,and gene copy number variation.Diagnostic laboratories have recently used variable advanced techniques to detect potential genetic abnormalities in couples with RM and/or in products of conception.Here we aim to summarize the known genetic causes of RM,with a focus on the new diagnostic techniques.Knowledge of the genetic profile of miscarriages is important for prognosis and potential counseling planning,as well as the prenatal diagnostic strategy in subsequent pregnancies.
文摘BACKGROUND As research on diabetes continues to advance,more complex classifications of this disease have emerged,revealing the existence of special types of diabetes,and many of these patients are prone to misdiagnosis and underdiagnosis,leading to treatment delays and increased health care costs.The purpose of this study was to identify four causes of secondary diabetes.CASE SUMMARY Secondary diabetes can be caused by various factors,some of which are often overlooked.These factors include genetic defects,autoimmune disorders,and diabetes induced by tumours.This paper describes four types of secondary diabetes caused by Williams–Beuren syndrome,Prader–Willi syndrome,pituitary adenoma,and IgG4-related diseases.These cases deviate significantly from the typical progression of the disease due to their low incidence and rarity,often leading to their neglect in clinical practice.In comparison to regular diabetes patients,the four individuals described here exhibited distinct characteristics.Standard hypoglycaemic treatments failed to effectively control the disease.Subsequently,a series of examinations and follow-up history confirmed the diagnosis and underlying cause of diabetes.Upon addressing the primary condition,such as excising a pituitary adenoma,providing glucocorticoid supplementation,and implementing symptomatic treatments,all patients experienced a considerable decrease in blood glucose levels,which were subsequently maintained within a stable range.Furthermore,other accompanying symptoms improved.CONCLUSION Rare diseases causing secondary diabetes are often not considered in the diag-nosis of diabetes.Therefore,it is crucial to conduct genetic tests,antibody detection and other appropriate diagnostic measures when necessary to facilitate early diagnosis and intervention through proactive and efficient management of the underlying condition,ultimately improving patient outcomes.
基金supported by the National Natural Science Foundation of China(No.82271110)the Undergraduate Training Program for Innovation and Entrepreneurship of Hunan Province(No.S202410533161)the New Technology Incubation Funds in Ophthalmology.All figures in this manuscript are created by Adobe Illustrator 2022(Adobe systems,USA).
文摘Mitochondria are essential for cellular function and viability,serving as central hubs of metabolism and signaling.They possess various metabolic and quality control mechanisms crucial for maintaining normal cellular activities.Mitochondrial genetic disorders can arise from a wide range of mutations in either mitochondrial or nuclear DNA,which encode mitochondrial proteins or other contents.These genetic defects can lead to a breakdown of mitochondrial function and metabolism,such as the collapse of oxidative phosphorylation,one of the mitochondria’s most critical functions.Mitochondrial diseases,a common group of genetic disorders,are characterized by significant phenotypic and genetic heterogeneity.Clinical symptoms can manifest in various systems and organs throughout the body,with differing degrees and forms of severity.The complexity of the relationship between mitochondria and mitochondrial diseases results in an inadequate understanding of the genotype-phenotype correlation of these diseases,historically making diagnosis and treatment challenging and often leading to unsatisfactory clinical outcomes.However,recent advancements in research and technology have significantly improved our understanding and management of these conditions.Clinical translations of mitochondria-related therapies are actively progressing.This review focuses on the physiological mechanisms of mitochondria,the pathogenesis of mitochondrial diseases,and potential diagnostic and therapeutic applications.Additionally,this review discusses future perspectives on mitochondrial genetic diseases.
