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Secondary diabetes due to different etiologies:Four case reports

World Journal of Clinical Cases 2024年第16期12卷 2813-2821页

作者： Wen-Rong Song Xiao-Hong Xu Jia Li Jia Yu Yan-Xiong Li Department of Endocrinology Hanchuan People's HospitalXiaogan 431600Hubei ProvinceChina Department of Pneumology Hanchuan People's HospitalXiaogan 431600Hubei ProvinceChina Department of Imaging Hanchuan People's HospitalXiaogan 431600Hubei ProvinceChina

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 *** purpose of this study was to identify four causes of secondary *** SUMMARY Secondary diabetes can be caused by various factors,some of which are often *** factors include genetic defects,autoimmune disorders,and diabetes induced by *** paper describes four types of secondary diabetes caused by Williams–Beuren syndrome,Prader–Willi syndrome,pituitary adenoma,and IgG4-related *** cases deviate significantly from the typical progression of the disease due to their low incidence and rarity,often leading to their neglect in clinical *** comparison to regular diabetes patients,the four individuals described here exhibited distinct *** hypoglycaemic treatments failed to effectively control the ***,a series of examinations and follow-up history confirmed the diagnosis and underlying cause of *** 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 ***,other accompanying symptoms *** Rare diseases causing secondary diabetes are often not considered in the diag-nosis of ***,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.

关键词： Secondary diabetes IgG4-associated diseases Williams–Beuren syndrome Pituitary adenoma Prader-Willi syndrome genetic defects Case report

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Overview of genetic causes of recurrent miscarriage and the diagnostic approach

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BIOCELL 2019年第4期43卷 253-262页

作者： TAREK A ATIA Prince Sattam bin Abdulaziz University College of Applied Medical SciencesMedical Laboratory Sciences DepartmentAl-kharjSaudi Arabia

Recurring miscarriage(RM)is a frustrating reproductive complication with variable *** genetic defects have been known to play a crucial role in the etiology of *** 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 *** laboratories have recently used variable advanced techniques to detect potential genetic abnormalities in couples with RM and/or in products of *** we aim to summarize the known genetic causes of RM,with a focus on the new diagnostic *** of the genetic profile of miscarriages is important for prognosis and potential counseling planning,as well as the prenatal diagnostic strategy in subsequent pregnancies.

关键词： Recurrent miscarriage genetic defects Diagnostic approach Chromosomal microarray Next-generation sequencing

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New Paradigm of Familial Non Compaction Associated with Hypertrophic Cardiomyopathy-an Echocardiographic Exploration

New Paradigm of Familial Non Compaction Associated with Hype...

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作者：代薇娜（Devina Ghoorah）华中科技大学

学位级别：硕士

Background-Noncompaction of the ventricular myocardium is a cardiomyopathy thought to becaused by arrest of normal embryogenesis of the endocardium and myocardium. The leftventricle is characterized by multiple trabeculations with deep intertrabecular recesses. In2006,the American Heart Association classified this entity as a primary cardiomyopathy of geneticorigin. This abnormality is often associated with other congenital cardiac defects, but it is alsoseen in the absence of other cardiac anomalies. Isolated noncompaction of the ventricularmyocardium, is characterized by persistent embryonic myocardial morphology found in theabsence of other cardiac anomalies to explain the abnormal development. Both familial andsporadic forms of noncompaction have been described. Clinical manifestations are highlyvariable, ranging from no symptoms to disabling congestive heart failure, arrhythmias, andsystemic thromboemboli. Echocardiography has been the diagnostic procedure of choice, but thecorrect diagnosis is often missed or delayed because of lack of knowledge about this uncommondisease and its similarity to other diseases of the myocardium and endocardium. Hypertrophic cardiomyopathy （HCM） is a complex genetically determined myocardial diseasewith a heterogeneous spectrum. It is the most commonly inherited cardiac disease in thepopulation, occurring in1:500. There have been studies reporting HCM as the most commoncause of sudden cardiac death in those aged less than30years and an important predispositionfor heart failure, arrhythmias irrespective of age. HCM is characterized by a hypertrophic leftventricle, without ventricular dilation and in the absence of any other cardiac or systemic diseasewhich may have been the cause for the wall thickening. Hypertrophic cardiomyopathy isinherited as a mendelian autosomal dominant trait and caused by mutations in any1of10genes,each encoding proteins of the cardiac sarcomere. Clinical diagnosis is by2-dimensionalechocardiographic id

关键词： Non Compaction Cardiomyopathy Hypertrophic cardiomyopathy Echocardiography Familial genetic defects

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