The Ehlers–Danlos Syndromes

2020 ◽  
pp. 26-29
Author(s):  
Bernadette Riley
Keyword(s):  
Clinical Diagnosis ◽  
Family Physician ◽  
Classification System ◽  
Genetic Basis ◽  
International Classification ◽  
Ehlers Danlos Syndrome ◽  
Diagnosis Criteria ◽  
Danlos Syndrome

An Osteopathic Family Physician will encounter hypermobile patients. Hypermobility is a symptom of many of the subtypes of the Ehlers Danlos Syndromes (EDS). With the updated classification system (the 2017 International Classification of the Ehlers-Danlos Syndromes) it is important for the osteopathic family physician to become familiar with the EDS patient. The classification system identifies 13 subtypes of EDS.1 Of these 13, 12 have a recognized genetic basis. Hypermobile EDS (hEDS) has a clinical diagnosis criteria checklist (Figure 1, page 29). There is opportunity for the osteopathic family physician community to help diagnose and treat the EDS population. This article seeks to have the osteopathic family physician become familiar with the Ehlers-Danlos Syndrome, and provide an overview of all of the subtypes of EDS, including hEDS and discusses signs, symptoms, and risks associated with the syndrome.

scholarly journals Ehlers–Danlos syndrome: how to diagnose and when to perform genetic tests

2014 ◽  
Vol 100 (1) ◽  
pp. 57-61 ◽  
Author(s):  
Glenda Sobey
Keyword(s):  
Genetic Basis ◽  
Correct Diagnosis ◽  
Clinical Signs ◽  
Accurate Diagnosis ◽  
Connective Tissue Disorders ◽  
Internal Organs ◽  
Ehlers Danlos Syndrome ◽  
Starting Point ◽  
Life Threatening ◽  
Danlos Syndrome

The term Ehlers–Danlos syndrome (EDS) encompasses a group of inherited connective tissue disorders. The manifestations of EDS can be seen in skin, joints, blood vessels and internal organs and vary from mild to severe and life threatening. Each subtype is a separate and different condition. The genetic basis of many subtypes has now been elucidated, confirming heterogeneity. An awareness of the different conditions within this group is the starting point towards accurate diagnosis. Accurate elicitation of history and clinical signs is vital in selecting the correct confirmatory investigation. Skin biopsy with electron microscopy can be helpful in the decision process of whether and when to perform genetic testing. Correct diagnosis within the EDSs allows targeted management, family screening and prenatal diagnosis.

Clinical and genetic parallels of the classification and diagnosis of Ehlers-Danlos syndrome

2021 ◽  
pp. 14-26
Author(s):  
Д.Д. Надыршина ◽  
А.В. Тюрин ◽  
Э.К. Хуснутдинова ◽  
Р.И. Хусаинова
Keyword(s):  
Genetic Counseling ◽  
Family Medicine ◽  
Genetic Basis ◽  
Molecular Genetic ◽  
Hereditary Disease ◽  
Orphan Diseases ◽  
Ehlers Danlos Syndrome ◽  
General Medical Practice ◽  
Molecular Genetic Basis ◽  
Danlos Syndrome

Статья посвящена обсуждению подходов к классификации и обзору доступных литературных данных о клинической вариабельности и молекулярно-генетических основах патогенеза редкого наследственного заболевания - синдрома Элерса-Данло. Представленный обзор расширит представление о патогенезе и позволит оптимизировать диагностику данного синдрома, определить тактику лечения и медико-генетического консультирования отягощенных семей как клиническим генетикам, специалистам в области изучения орфанных заболеваний, так и врачам терапевтам, специалистам семейной медицины и общей врачебной практики. The article is devoted to the discussion of approaches to the classification and review of the available literature data on clinical variability and the molecular genetic basis of the pathogenesis of a rare hereditary disease - Ehlers-Danlos syndrome. The presented review will expand the understanding of the pathogenesis and allow to optimize the diagnosis of this syndrome, to determine the tactics of treatment and medical and genetic counseling of burdened families, both to clinical geneticists, specialists in the study of orphan diseases, and to general practitioners, specialists in family medicine and general medical practice.

Classification of sleep disorders

2017 ◽  
Author(s):  
Michael Thorpy
Keyword(s):  
Sleep Disorders ◽  
Classification System ◽  
Sleep Apnea Syndrome ◽  
International Classification ◽  
Abnormal Behavior ◽  
Dsm V ◽  
Obstructive Sleep ◽  
Circadian Rhythm Sleep Disorders ◽  
Icd 10

The classification of sleep disorders is essential both for correct diagnosis and for coding purposes. There are three major sleep disorder classifications in the USA: the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V), the American Academy of Sleep Medicine’s International Classification of Sleep Disorders (ICSD-3), and the International Classification of Diseases Modified Version (ICD-10-CM). This chapter discusses these classifications and their differences. DSM-V and ICSD-3 are used mainly for diagnostic information, whereas ICD-10-CM is used for coding. Sleep disorders can be regarded as falling into three main groups: those that cause difficulty with nighttime sleep, those that cause daytime sleepiness, and those that cause abnormal behavior during the night. The disorders, such as insomnia disorder, narcolepsy, circadian rhythm sleep disorders, obstructive sleep apnea syndrome, and the parasomnias, in these three groups are organized differently, depending upon the classification system. The most detailed diagnostic classification system is ICSD-3, whereas the DSM-V classification is a simplified version, predominantly for psychiatrists.

scholarly journals Standardised criteria for classifying the International Classification of Activities for Time-use Statistics (ICATUS) activity groups into sleep, sedentary behaviour, and physical activity

2019 ◽  
Vol 16 (1) ◽  
Author(s):  
Nucharapon Liangruenrom ◽  
Melinda Craike ◽  
Dorothea Dumuid ◽  
Stuart J. H. Biddle ◽  
Catrine Tudor-Locke ◽  
...  
Keyword(s):  
Physical Activity ◽  
Sedentary Behaviour ◽  
Time Use ◽  
Classification System ◽  
Vigorous Physical Activity ◽  
Delphi Survey ◽  
International Classification ◽  
Expert Assessment ◽  
Activity Groups

Abstract Background Globally, the International Classification of Activities for Time-Use Statistics (ICATUS) is one of the most widely used time-use classifications to identify time spent in various activities. Comprehensive 24-h activities that can be extracted from ICATUS provide possible implications for the use of time-use data in relation to activity-health associations; however, these activities are not classified in a way that makes such analysis feasible. This study, therefore, aimed to develop criteria for classifying ICATUS activities into sleep, sedentary behaviour (SB), light physical activity (LPA), and moderate-to-vigorous physical activity (MVPA), based on expert assessment. Method We classified activities from the Trial ICATUS 2005 and final ICATUS 2016. One author assigned METs and codes for wakefulness status and posture, to all subclass activities in the Trial ICATUS 2005. Once coded, one author matched the most detailed level of activities from the ICATUS 2016 with the corresponding activities in the Trial ICATUS 2005, where applicable. The assessment and harmonisation of each ICATUS activity were reviewed independently and anonymously by four experts, as part of a Delphi process. Given a large number of ICATUS activities, four separate Delphi panels were formed for this purpose. A series of Delphi survey rounds were repeated until a consensus among all experts was reached. Results Consensus about harmonisation and classification of ICATUS activities was reached by the third round of the Delphi survey in all four panels. A total of 542 activities were classified into sleep, SB, LPA, and MVPA categories. Of these, 390 activities were from the Trial ICATUS 2005 and 152 activities were from the final ICATUS 2016. The majority of ICATUS 2016 activities were harmonised into the ICATUS activity groups (n = 143). Conclusions Based on expert consensus, we developed a classification system that enables ICATUS-based time-use data to be classified into sleep, SB, LPA, and MVPA categories. Adoption and consistent use of this classification system will facilitate standardisation of time-use data processing for the purpose of sleep, SB and physical activity research, and improve between-study comparability. Future studies should test the applicability of the classification system by applying it to empirical data.

Common Maternal Genetic Syndromes III: Ehlers-Danlos Syndrome

2020 ◽  
Author(s):  
Alex C. Vidaeff
Keyword(s):  
Genetic Screening ◽  
Perinatal Complications ◽  
Genetic Syndromes ◽  
New Classification ◽  
Ehlers Danlos Syndrome ◽  
Risk Pregnancy ◽  
Pregnancy And Delivery ◽  
Obstetric Management ◽  
Danlos Syndrome

The purpose of this work is to improve the basis upon which advice on pregnancy is given to women with Ehlers-Danlos syndrome (EDS) and to address issues of obstetric management by drawing upon the accumulated world experience. Although, overall, pregnancy in EDS is well tolerated, with good outcomes, the rate of maternal and perinatal complications is higher and every pregnancy in these women remains a high-risk pregnancy. The obstetrical outcomes are influenced by the type of EDS and the specific underlying abnormalities. The older numeric classification of EDS has been largely abandoned and it was replaced by the 2017 descriptive international classification. Based on this new classification, we are briefly describing the most common EDS types and consider the management implications imposed by pregnancy and delivery.   This review contains 2 figures, 1 table, and 36 references. Keywords: Ehlers-Danlos syndrome, EDS types, pregnancy, delivery, EDS classification, counseling, genetic screening, neonatal outcomes 

Hereditary disorders of connective tissue

2018 ◽  
pp. 577-594
Author(s):  
Gavin Clunie ◽  
Nick Wilkinson ◽  
Elena Nikiphorou ◽  
Deepak R. Jadon
Keyword(s):  
Connective Tissue ◽  
Osteogenesis Imperfecta ◽  
Marfan Syndrome ◽  
Genetic Information ◽  
Hereditary Diseases ◽  
Ehlers Danlos Syndrome ◽  
Hereditary Disorders ◽  
Spectrum Disorders ◽  
Danlos Syndrome

The Oxford Handbook of Rheumatology, 4th edition, includes a chapter on the hereditary diseases of connective tissue. Of importance, up-to-date genetic information and classification of subtypes of osteogenesis imperfecta is reviewed. There is a summary of a broad range of diseases of connective tissue including Marfan syndrome, Stickler disease, and arthrogryposis—conditions encountered occasionally by the rheumatologist. The chapter details the new 2017 criteria for Ehlers–Danlos syndrome and outlines the new classification for the hypermobility spectrum disorders and the distinction between generalized, localized, and regional hypermobility and hypermobility Ehlers–Danlos syndrome, both in adults and in children.

Fetal aortic dilation in a mother with clinical diagnosis of Ehlers Danlos syndrome

2021 ◽  
Vol 132 ◽  
pp. S311-S312
Author(s):  
Raquel Selcer ◽  
Lihong Mo ◽  
Jay Yeh ◽  
Nourhan Osman ◽  
Krishna Singh
Keyword(s):  
Clinical Diagnosis ◽  
Aortic Dilation ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome
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