The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagenencoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between EDS subtypes, but also with other HCTDs, the definite diagnosis of all EDS subtypes, except for the hypermobile type, relies on molecular confirmation with identification of (a) causative genetic variant(s). We also revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes.

The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder.

we found that a similar percentage of female elite athletes and controls, but a higher percentage of male elite athletes than controls, reported the use of NS. There was a lower percentage of NS use among the top female athletes, but not the top male athletes as compared to the less successful elite athletes. The coach was the main advisor for NS use both for male and female elite athletes.

Ninety-six patients with insulin-dependent diabetes mellitus (IDDM) and non-proliferative retinopathy were randomized to intensified conventional treatment (ICT) (n = 44) or regular treatment (RT) (n = 52), and followed up for 5 years. HbA1c decreased from 9.5 +/- 0.2% (mean value +/- SEM) to 7.2 +/- 0.1% in the ICT group, and from 9.4 +/- 0.2% to 8.7 +/- 0.1% in the RT group (difference between the groups, P less than 0.001). Retinopathy increased in both groups (P less than 0.001), but after 5 years it was worse in the RT group (P less than 0.05). The urinary albumin excretion rate was higher in the RT group than in the ICT group after 5 years (239.9 +/- 129.7 micrograms min-1 vs. 46.0 +/- 26.1 micrograms min-1, P less than 0.05). Eight RT patients developed manifest nephropathy, compared with none in the ICT group (P less than 0.01). After 5 years the conduction velocities of the sural (P less than 0.05), peroneal (P less than 0.01) and tibial (P less than 0.001) nerves were lower in the RT group. The respiratory sinus arrhythmia was 12.1 +/- 1.2 beats min-1 in the RT group and 16.7 +/- 1.4 beats min-1 in the ICT group at the end of the study (P less than 0.01). The increases in retinopathy (P less than 0.01), nephropathy (P less than 0.01) and neuropathy (P less than 0.001) were all related to the mean HbA1c value during the study. Smoking habits only influenced the progression of retinopathy (P less than 0.05). Serious hypoglycaemia occurred in 34 ICT patients and 29 RT patients (242 and 98 episodes, respectively) (P less than 0.05). Whereas weight was stable in the RT group, the body mass index increased by 5.8% in the ICT group (P less than 0.01). In conclusion, microvascular complications of diabetes were retarded by intensified conventional insulin treatment. However, such treatment increased the frequency of serious hypoglycaemia, and led to an increase in body weight.

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Ekblom B, Berglund B. Effect of erythropoietin administration on maximal aerobic power. Scand J Med Sci Sports 1991: 1: 88-93. The effects of subcutaneous injections of human erythropoietin (rhEpo) on the circulatory response to submaximal and maximal exercise were studied in healthy male subjects (n= 15). Hemoglobin concentration [Hb] increased from 152 g * 1 -I to 169 g -1-' and in parallel maximal aerobic power ( V o , )increased from 4.52 to 4.88 1 . min-'. There were no significant changes in heart rate, ventilation and blood lactate concentration during the exhausting run. Compared with infusion of red blood cells, there was no significant difference in the increase inVo,,, per gram increase in [Hb]. Systolic blood pressure at 200 W increased from before rhEpo treatment to afterwards. It was concluded that slow (rhEpo treatment) and acute (red blood cell reinfusion) increase of [Hb] I resulted in similar increase in V o , , , . Hemoglobin concentration ([Hb]) is an important determinant of maximal aerobic power (Vo,,)and physical endurance capacity in humans (1). Erythropoietin, a glycoprotein hormone produced by the kidney, is a main regulator of red blood cell (RBC) production and can, thus, affect [Hb]. Human erythropoietin (rhEpo), produced by recombinant DNA techniques, has been used successfully to treat different types of anemia (2-4).It is well known that Vozmlu is enhanced by polycythemia after blood transfusions in healthy subjects (5-7). However, an increase in [Hb] after rhEpo treatment does not necessarily cause the same physiological effects as the transfusion of RBC, since the former procedure produces a gradual increase in [Hb], whereas RBC transfusion increases [Hb] rapidly. This may result in different responses for variables such as blood volume, blood viscosity, 2,3 DPG, peripheral blood flow and blood pressure.Therefore, the aim of this study was to evaluate the effects of rhEpo treatment on the circulatory adaptation to submaximal exercise, VoZmax and physical performance and compare these data with the well-known effects of RBC transfusions. Material and methodsFifteen healthy male students in physical education who were moderately to well trained gave voluntary written consent to participate in the study.The mean (f SD) age, weight and Vozmax of the subjects was 27 f 3 years (range 22-32), 75 f 8 kg (range 66-91) and 4.5 f 0.4 1 -min-' (range 3.67-5.17), respectively. The mean weight did not change during the experimental period. Special care was taken to maintain training status and, thus, the level of physical fitness of the subjects unchanged throughout the experimental period.Whenevner possible, the subcutaneous injections of rhEPO were administered in the laboratory. When this was not possible, injections were administered by nurses, the subjects themselves or other delegated persons on the scheduled day.Because of time restrictions and problems with the availability of rhEPO, the study was carried out in 2 groups. In 1 group (n=8), 20 IU of rhEpokg-' body weight was adminis...

The memory of not being respected is substantial for individuals with EDS and can last for years. As a result, lack of trust for the health-care system is created and they may experience difficulties in future encounters with health care. Therefore, health-care professionals should base their actions on norms that protect human dignity and confirm each patient as a unique human being with resources and abilities to master their own life.

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