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DOI 10.16288/j.yczz.22-225

Медицинская библиотека · Yi chuan = Hereditas · 2022

Advances in lipodystrophy syndrome caused by LMNA gene mutation.

Pehlivanoglu Tuna, Demirel Mehmet, Koyuncu Daghan, Valiyev Natiq, Akgül Turgut, Kilicoglu Onder Ismet

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Аннотация

BACKGROUND

Ankle fractures constitute 10% of all traumatic fractures in clinical practice. Concurrent tibiotalar dislocations form 21% to 36% of all ankle fractures. Although mechanism of injury is similar to nondislocated ankle fractures, fracture-dislocations cause more extensive bone and soft-tissue damage. Treatment is a challenge for orthopedic surgeons due to concomitant pathologies. It is associated with malreduction, chronic pain, and post-traumatic osteoarthritis. We aimed to investigate the relationship between ankle osteoarthritis radiographic stage and clinical outcomes.

METHODS

Records and data of 27 patients were retrospectively analyzed. Clinical status at final follow-up was evaluated by a single orthopedic surgeon. Range of motion, American Orthopaedic Foot and Ankle Society Ankle-Hindfoot Score, and visual analog scale score were the clinical parameters that were assessed. Radiologic assessment was made by standard anteroposterior, lateral, and mortise views. Preoperative osseoligamentous injury pattern, presence of posterior malleolar fracture, syndesmosis injury, and postoperative ankle osteoarthritis were investigated.

RESULTS

At final follow-up, mean ± SD Ankle-Hindfoot Score was 98.25 ± 1.06 and visual analog scale score during daily activities was 1.52 ± 0.70. Mean ± SD ankle dorsiflexion and plantarflexion were significantly lower on the affected sides (14.07° ± 7.97° and 36.30° ± 6.59°) than on the unaffected sides (28.15° ± 2.82° and 46.30° ± 2.97°), respectively (P < .001). No significant difference for inversion and eversion was observed. Twenty-four patients demonstrated radiographic signs of ankle osteoarthritis and three did not. No significant difference was found among Takakura stages in any of the variables.

CONCLUSIONS

Although the post-traumatic osteoarthritis rate was high for ankle fracture-dislocation, surgical treatment achieved excellent functional results. Even if advanced stages of ankle arthritis according to Takakura classification developed, patients had satisfactory clinical and functional results.

Для цитирования: Pehlivanoglu Tuna, Demirel Mehmet, Koyuncu Daghan, Valiyev Natiq, Akgül Turgut, Kilicoglu Onder Ismet. Advances in lipodystrophy syndrome caused by LMNA gene mutation.. Yi chuan = Hereditas. 2022. DOI: 10.16288/j.yczz.22-225.

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