IDR: the ImmunoDeficiency Resource

The ImmunoDeficiency Resource (IDR), freely available at http://www.uta.fi/imt/bioinfo/idr/, is a comprehensive knowledge base on immunodeficiencies. It is designed for different user groups such as researchers, physicians and nurses as well as patients and their families and the general public. Information on immunodeficiencies is stored as fact files, which are disease- and gene-based information resources. We have developed an inherited disease markup language (IDML) data model, which is designed for storing disease- and gene-specific data in extensible markup language (XML) format. The fact files written by the IDML can be used to present data in different contexts and platforms. All the information in the IDR is validated by expert curators.     

Effect of training in Greco-Roman wrestling on neck strength at the elite level

Special training methods in wrestling have been assumed to improve the stability and tolerance of the neck. The aim of this study was to measure the neck strength levels reached in an extremely physically demanding sport. A neck strength measurement system was used to measure various parameters of maximal isometric neck strength in Finnish senior wrestlers competing at the international level. The results were compared with those achieved by junior wrestlers and a control group. The means (SD) of the maximal isometric neck strength for cervical rotation were 0.4 (0.1) Nm.kg(-1) for the senior wrestlers, 0.3 (0.1) Nm.kg(-1) for the junior wrestlers, and 0.2 (0.1) Nm.kg(-1) for the nonsportsmen. The respective results for cervical flexion were 4.4 (1.4), 3.8 (0.7), and 2.3 (0.8) Nm.kg(-1); for extension, 6.0 (1.1), 5.9 (0.7), and 4.0 (0.9) Nm.kg(-1). Neck strength in flexion seems to improve more than in extension as the result of wrestling. The greatest difference was found in rotation, which in the senior wrestlers was almost 3 times that in the nonsportsmen. There was great individual variation within all groups, and the results revealed weaknesses in all directions. Maximal neck strength measurements provide information useful in planning training programs to correct possible muscle deficiency and imbalance.     

Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study

Background

Due partly to physicians’ unawareness, many adults with Pompe disease are diagnosed with great delay. Besides, it is not well known which factors influence the rate of disease progression, and thus disease outcome. We delineated the specific clinical features of Pompe disease in adults, and mapped out the distribution and severity of muscle weakness, and the sequence of involvement of the individual muscle groups. Furthermore, we defined the natural disease course and identified prognostic factors for disease progression.

Methods

We conducted a single-center, prospective, observational study. Muscle strength (manual muscle testing, and hand-held dynamometry), muscle function (quick motor function test), and pulmonary function (forced vital capacity in sitting and supine positions) were assessed every 3–6 months and analyzed using repeated-measures ANOVA.

Results

Between October 2004 and August 2009, 94 patients aged between 25 and 75 years were included in the study. Although skeletal muscle weakness was typically distributed in a limb-girdle pattern, many patients had unfamiliar features such as ptosis (23%), bulbar weakness (28%), and scapular winging (33%). During follow-up (average 1.6 years, range 0.5-4.2 years), skeletal muscle strength deteriorated significantly (mean declines of ?1.3% point/year for manual muscle testing and of ?2.6% points/year for hand-held dynamometry; both p<0.001). Longer disease duration (>15 years) and pulmonary involvement (forced vital capacity in sitting position <80%) at study entry predicted faster decline. On average, forced vital capacity in supine position deteriorated by 1.3% points per year (p=0.02). Decline in pulmonary function was consistent across subgroups. Ten percent of patients declined unexpectedly fast.

Conclusions

Recognizing patterns of common and less familiar characteristics in adults with Pompe disease facilitates timely diagnosis. Longer disease duration and reduced pulmonary function stand out as predictors of rapid disease progression, and aid in deciding whether to initiate enzyme replacement therapy, or when.