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[Traumatic dislocation of long fingers at the metacarpophalangeal joint while bowling--case report of an extremely rare injury].

The case of a 55-year old male patient, who got a luxation of the four long fingers while bowling, is presented. After reposition, fixing in "Intrinsic-plus"-position for two weeks and accompanied physiotherapy, a good functional result of the right hand was obtained. Mechanism of accident, diagnosis, therapy and complications are discussed.

Athletic Injuries↗

A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.

Proximal symphalangism (SYM1) is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints and fusion of carpal and tarsal bones. We identified and characterized two five-generation Chinese families with SYM1. The two families share some similarities (e.g., osseous fusion of interphalangeal joints of the 2-4 fingers) with SYM1 families with mutations in the NOG gene or the family with mutation R438L recently reported in the GDF5 gene (encoding a bone morphogenetic protein family member). However, they show some unique features including the absence of cuboid bone, the lack of shortness of the first and fifth metacarpal bones, and manifestation of flat feet. Genome-wide linkage analysis of the two families mapped the disease gene to marker D20S112 with a combined LOD score of 4.32. Mutational analysis revealed a novel E491K mutation in the GDF5 gene in both families. The mutation occurs at a highly conserved residue in the TGF-beta domain of GDF5 and represents the second GDF5 mutation identified for SYM1 to date. The E491K mutation co-segregated with the affected individuals in the two families, and did not exist in unaffected family members or 200 normal controls. These results indicate that defects in GDF5 can cause SYM1 in the Chinese population, and expand the spectrum of clinical phenotypes associated with mutant GDF5.

Amino Acid Sequence↗

The association between Turner's syndrome and juvenile rheumatoid arthritis.

BACKGROUND: Turner's syndrome (TS) is a chromosomal disease frequently associated with autoimmune conditions including thyroid disease, inflammatory bowel disease, and diabetes. Recent reports have described an association with juvenile rheumatoid arthritis (JRA) and psoriatic arthritis. We describe three additional cases of TS associated with JRA. OBJECTIVE: The objective of this report is to describe the radiographic and clinical features of TS associated with JRA to heighten awareness of this association and alert radiologists to recognize the superimposition of radiographic bony changes of chronic joint disease and the bone changes of TS. Patients and methods. Clinical history and radiographic images of three girls with TS and arthritis were reviewed. The radiographic findings typical of TS and juvenile arthritis are described. RESULTS: Of about 65 patients at our center with Turner's syndrome 3 had JRA (as described in this report), supporting the association between TS and JRA. All our patients who met American College of Rheumatology Classification criteria for JRA had radiographic and clinical findings consistent with both their JRA and Turner's syndrome. CONCLUSION: We believe that it is important to consider the diagnosis of Turner's syndrome in girls with JRA, recognizing that characteristic radiographic findings such as metacarpal shortening are usually present. Conversely, suspicion of an underlying inflammatory arthritis is warranted in search for radiological findings consistent with JRA in girls with TS and joint symptoms.

Adolescent↗

A biomechanical study of the collateral ligaments of the proximal interphalangeal joint.

Collateral ligament injuries of the proximal interphalangeal joint are common. A significant number of these injuries result in complete rupture of the ligament. The forces that damage the ligaments are abduction and adduction stresses. Previous studies have investigated laxity, angulation, and patterns of failure, but detailed biomechanical rupture studies are scant. Sixty-eight proximal interphalangeal joints from fresh human cadaver fingers (average age, 67 years) were stressed at velocities of 1 mm/sec, 4 mm/sec, and 10 mm/sec. Sectioning studies were also done. Four distinct rupture patterns were noted: midsubstance tear, proximal detachment, distal detachment, and distal avulsion fracture. The prevalence of these patterns differed with the rate at which the ligaments were stressed. Lower speeds tended to produce midsubstance tears, while higher speeds yielded distal damage. The study confirmed that the lateral collateral ligament is the primary restraint against medial-lateral stress and that other supporting structures (the extensor hood and the palmar plate) did not contribute significantly to side-to-side stability.

Analysis of Variance↗

Different types of tremor in the human thumb.

1. The upper limbs of normal subjects were immobilized in a way that allowed measurement of forces and movements at the thumb interphalangeal joint without significant movement elsewhere in the limb. 2. When the subject attempted to maintain a steady flexing force at the joint against a rigid stop, the actual force showed the irregular 8-11 Hz fluctuations characteristic of a 'physiological tremor'. This force fluctuation increased when the mean flexing force increased. 3. If the subject exerted his flexing force against a light complaint spring, there was an analogous irregular 8-11 Hz movement at the joint. 4. When, however, an extra inertial load was added to the terminal phalanx, flexion against a complaint spring was often accompanied by a different type of tremor. This was a more regular oscillation, of lower frequency (3-6 Hz), and of much larger amplitude. 5. The precise frequency and amplitude of this type of tremor depended on the characteristics of the added inertia and spring, in a way that could have been predicted from the responses of the joint to an imposed sinusoidal movement (Brown, Rack & Ross, 1982a). The movement appeared to arise from re-excitation within stretch reflex pathways. 6. The irregular 8-11 Hz tremor at this joint could not be attributed to reflex re-excitation, since the responses to sinusoidal movement indicated a stretch reflex whose timing would not support a movement at that frequency. It is, however, emphasized that other joints of the hand and fingers may behave in different ways.

Adult↗