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Background
Terminal deletions of chromosome 4q are associated with a broad spectrum of phenotypes including cardiac, craniofacial, digital, and cognitive impairment. The rarity of this syndrome renders genotype-phenotype correlation difficult, which is further complicated by the widely different phenotypes observed in patients sharing similar deletion intervals.
Case presentation
Herein, we describe a boy with congenital hearing impairment and a variety of moderate syndromic features that prompted SNP array analysis disclosing a heterozygous 6.9 Mb deletion in the 4q35.1q35.2 region, which emerged de novo in the maternal germ line.
Conclusion
In addition to the index patient, we review 35 cases from the literature and DECIPHER database to attempt genotype-phenotype correlations for a syndrome with great phenotypic variability. We delineate intervals with recurrent phenotypic overlap, particularly for cleft palate, congenital heart defect, intellectual disability, and autism spectrum disorder. Broad phenotypic presentation of the terminal 4q deletion syndrome is consistent with incomplete penetrance of the individual symptoms.
Background
Barbed suture material offers the possibility of knotless flexor tendon repair, as suggested in an increasing number of biomechanical studies. There are currently two different absorbable barbed suture products available, V-Loc™ and Stratafix™, and both have not been compared to each other with regard to flexor tendon repair. The purpose of this study was to evaluate both suture materials for primary stability under static and cyclic loading in a biomechanical ex vivo model.
Methods
Forty fresh porcine flexor digitorum profundus tendons were randomized in two groups. A four-strand modified Kessler suture technique was used to repair the tendon either with a 3–0 V-Loc™ or 3–0 Stratafix™ without a knot. Parameters of interest were mode of failure, 2-mm gap formation force, displacement, stiffness and maximum load under static and cyclic testing.
Results
The maximum load was 42.3 ± 7.2 for the Stratafix™ group and 50.7 ± 8.8 N for the V-Loc™ group. Thus, the ultimate tensile strength was significantly higher for V-Loc™ (p < 0.05). The 2-mm gap occurred at 24.8 ± 2.04 N in the Stratafix™ group in comparison to 26.5 ± 2.12 N in the V-Loc™ group (n.s.). Displacement was 2.65 ± 0.56 mm in the V-Loc™ group and 2.71 ± 0.59 mm in the Stratafix™ group (n.s.). Stiffness was 4.24 ± 0.68 (N/mm) in the V-Loc™ group and 3.85 ± 0.55 (N/mm) the Stratafix™ group (n.s.). Those measured differences were not significant.
Conclusion
V-Loc™ demonstrates a higher maximum load in tendon reconstruction. The differences in 2-mm gap formation force, displacement and stiffness were not significant. Hereby, the V-Loc™ has an advantage when used as unidirectional barbed suture for knotless flexor tendon repair.
Background: Current surgical approaches to the distal radius include dorsal and palmar plate fixation. While palmar plates have gained widespread popularity, few reports have provided data on long term clinical outcomes in comparison. This paper reports the result of a randomised clinical study comparing dorsal Pi plates and palmar, angle-stable plates for treatment of comminuted, intraarticular fractures of the distal radius over the course of twelve months.
Methods: 42 patients with unilateral, intraarticular fractures of the distal radius were included and randomised to 2 groups, 22 were treated with a palmar plate, 20 received a dorsal Pi-plate. Results were evaluated after 6 weeks, 3, 6 and 12 months postoperatively focussing on functional recovery as well as radiological results.
Results: The palmar plate group demonstrated significantly better results regarding range of motion and grip strength over the course of 12 months. While a comparable increase in function was observed in both groups, the better results from the early postoperative period in the palmar plate group prevailed over the whole course. Radiological results showed a significantly increased palmar tilt and carpal sag in dorsal plates, with other radiological parameters being comparable. Pain levels were decreased in dorsal plates after hardware removal and failed to show significant differences after 12 months. However, complications such as tendon ruptures were more frequent in the dorsal plate group.
Conclusions: Functional advantage of palmar plates gained within the first 6 weeks prevails over the course of a year. Both groups demonstrate further gradual increase of function after 6 months, although dorsal plates did not catch up completely. Improved early postoperative function seems to be the cornerstone for the best possible results. Patients with dorsal plates benefit from hardware removal more than palmar plates in terms of reduction of pain levels. The advantage of palmar plates is a faster functional recovery with lower complication rates. This is especially important in the elderly population. Radiological results did not show a superiority of palmar plates over dorsal plates.
Introduction
Osteotomy or fracture models can be used to evaluate mechanical properties of fixation techniques of the hand skeleton in vitro. Although many studies make use of osteotomy models, fracture models simulate the clinical situation more realistically. This study investigates monocortical and bicortical plate fixation on metacarpal bones considering both aforementioned models to decide which method is best suited to test fixation techniques.
Methods
Porcine metacarpal bones (n =40) were randomized into 4 groups. In groups I and II bones were fractured with a modified 3-point bending test. The intact bones represented a further control group to which the other groups after fixation were compared. In groups III and IV a standard osteotomy was carried out. Bones were fixated with plates monocortically (group I, III) and bicortically (group II, IV) and tested for failure.
Results
Bones fractured at a mean maximum load of 482.8N±104.8N with a relative standard deviation (RSD) of 21.7%, mean stiffness was 122.3±35 N/mm. In the fracture model, there was a significant difference (P = 0.01) for maximum load of monocortically and bicortically fixed bones in contrast to the osteotomy model (P = 0.9). Discussion. In the fracture model, because one can use the same bone for both measurements in the intact state and the bone-plate construct states, the impact of inter-individual differences is reduced. In contrast to the osteotomy model there are differences between monocortical and bicortical fixations in the fracture model. Thus simulation of the in vivo situation is better and seems to be suitable for the evaluation of mechanical properties of fixation techniques on metacarpals
Adjuvant Radiotherapy
(2011)
Background
Dislocations of the elbow are the second most common dislocations of humeral joints following the shoulder. Besides numerous possible concomitant injuries of the collateral ligaments or the extensor or flexor apparatus, an accompanying disruption of the brachial artery is a rare occurrence. In the following, such a case is presented and discussed.
Method
A 70-year-old woman sustained a closed posterior elbow dislocation with accompanying disruption of the brachial artery due to a fall in a domestic environment. Pulselessness of the radial artery led to a computed tomography angiography being performed, which confirmed the diagnosis. Direct operative vascular reconstruction with a vein insert was carried out. Due to strong swelling of the soft tissue, other examinations of the elbow could not be performed initially. A redislocation a few days later led to an operative stabilization of the elbow joint.
Results
The final consultation 4 months postoperatively showed a stable, centered elbow joint and a normal perfusion of the affected arm. The elbow function was good with a range of motion of 0/0/110° of extension/flexion.
Conclusion
An elbow dislocation is a complex injury. An accurate clinical examination of possible concomitant injuries is important and should be repeated in the first few days after the occurrence. Vascular reconstruction should be performed immediately. In the case of persistent joint instability, an operative stabilization is indicated and may be supported by a hinged external fixator.