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
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.
