Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.

Haploinsufficiency of the short stature homeobox contaning SHOX gene has been shown to result in a spectrum of phenotypes ranging from Leri-Weill dyschondrosteosis (LWD) at the more severe end to SHOX-related short stature at the milder end of the spectrum. Most alterations are whole gene deletions, point mutations within the coding region, or microdeletions in its flanking sequences. Here, we present the clinical and molecular data as well as the potential molecular mechanism underlying a novel microdeletion, causing a variable SHOX-related haploinsufficiency disorder in a three-generation family. The phenotype resembles that of LWD in females, in males, however, the phenotypic expression is milder. The 15523-bp SHOX intragenic deletion, encompassing exons 3-6, was initially detected by array-CGH, followed by MLPA analysis. Sequencing of the breakpoints indicated an Alu recombination-mediated deletion (ARMD) as the potential causative mechanism.

The Ilizarov method for the treatment of complex tibial fractures and non-unions in a mass casualty setting: the 2005 earthquake in Pakistan.

We report our experience in treating victims of the recent earthquake disaster in Pakistan. Our experience was based on two humanitarian missions to Islamabad: one in October 2005, 10 days after the earthquake, and the second in January 2006. The mission consisted of a team of orthopaedic surgeons and a second team of plastic surgeons. The orthopaedic team bought all the equipment for application of Ilizarov external fixators. We treated patients who had already received basic treatment in the region of the disaster and subsequently had been evacuated to Islamabad. During the first visit, we treated 12 injured limbs in 11 patients. Four of these patients were children. All cases consisted of complex multifragmentary fractures associated with severe crush injuries. All fractures involved the tibia, which were treated with Ilizarov external fixators. Nine fractures were type 3b open injuries. Eight were infected requiring debridement of infected bone and acute shortening. During a second visit, we reviewed all patients treated during our first mission. In addition, we treated 13 new patients with complex non-unions. Eight of these patients were deemed to be infected. All patients had previous treatment with monolateral fixators as well as soft tissue coverage procedures, except one patient who had had an IEF applied by another team. All these patients had revision surgery with circular frames. All patients from both groups were allowed to fully weight-bear post-operatively, after a short period of elevation to allow the flaps to take. Overall, all fractures united except one case who eventually had an amputation. Four patients had a corticotomy and lengthening, and three of them had a successful restoration of limb length. The fourth patient was the one with the eventual amputation.

Temporal and spatial expression of TGF-beta1 in an Achilles tendon section model after application of platelet-rich plasma.

BACKGROUND: To investigate the effect of platelet-rich plasma (PRP) on TGF-beta1 expression during tendon healing. METHODS: We used 48 skeletally mature New Zealand White rabbits. 24 rabbits received the PRP, and 24 rabbits served as an untreated control group. Equal numbers of animals were sacrificed at 1st, 2nd, 3rd, and 4th week. The surgical procedure involved a transverse incision to transect the Achilles tendon. A volume of 1ml of PRP was then injected into the tendon mass in the PRP group. Histological and immunohistochemical evaluations with an anti-TGF-beta primary antibody were performed. RESULTS: The pattern of expression of TGF-beta1 in the PRP group was characterized by a significant upregulation during the first 2 weeks and subsequently significant downregulation in the 3rd and 4th week in comparison with the controls. CONCLUSIONS: Our results suggest that PRP may affect the tendon healing process by altering the expression of TGF-beta1.

Anatomic relation of dorsal wrist arthroscopy portals and superficial nerves: a cadaveric study.

PURPOSE: The aim of this cadaveric study was to assess and compare the distance of commonly used dorsal wrist portals to the dorsal ulnar and radial superficial nerves and their branches. METHODS: Twenty embalmed cadaveric upper limbs were dissected, exposing the nerves and tendons, and wrist arthroscopy portal sites were marked with pins. The horizontal distance between the portals and closest nerve branch was measured with a digital caliper. Statistical analysis of the data was performed with SPSS software for Windows (version 11.5; SPSS, Chicago, IL) by use of Friedman tests and Wilcoxon signed rank tests. RESULTS: The median distance of the nearest nerve branch to portal 1-2 was 1.82 mm; portal 3-4, 4.85 mm; portal 4-5, 16.13 mm; portal 6U, 2.47 mm; and midcarpal radial portal (MCP), 6.65 mm. The 4-5 portal was safer than the 1-2 portal (P < .0001), 3-4 portal (P = .015), MCP (P = .001), and 6U portal (P < .0001). The MCP was safer than the 1-2 portal (P = .01), 3-4 portal (P = .019), and 6U portal (P = .003). CONCLUSIONS: The 4-5 portal is further away from a nerve branch than any other portal, followed by the MCP. CLINICAL RELEVANCE: The results of this study may be of use in the planning of wrist arthroscopy.

The influence of platelet-rich plasma on angiogenesis during the early phase of tendon healing.

BACKGROUND: The poor vascularity of tendons is a major factor in their limited healing capacity. The aim of this study was to assess the effect of Platelet Rich Plasma (PRP) on angiogenesis during tendon healing. MATERIALS AND METHODS: Forty-eight skeletally mature New Zealand White rabbits were used. The Achilles tendon was transected transversely and 0.5 ml of PRP was injected into the tendon mass on each side of the incision on both limbs. The injection in the control group consisted of saline. Six animals from each group (12 tendons each) were sacrificed after 1, 2, 3, and 4 weeks following treatment. Three sections from each Achilles were stained with hematoxylinosin for microscopic examination. Further three sections were immunostained with a monoclonal antibody against CD31 (Daco Co), followed by image analysis to count new vessel numbers and statistical analysis was performed. RESULTS: There was significantly more angiogenesis in the PRP group compared to the control group during the first two weeks of the healing process, i.e., inflammatory and proliferative phase (p < 0.0001). The orientation of collagen fibers in the PRP group was better organized. The number of the newly formed vessels in the PRP group were significantly reduced at 4 weeks compared to the controls (p < 0.0001) suggesting the healing process was shortened. CONCLUSION: PRP seems to enhance neovascularization which may accelerate the healing process and promote scar tissue of better histological quality. CLINICAL RELEVANCE: Although these results need replication and further biomechanical research, PRP may promote tendon healing acceleration.

Long-term results of Mitchell's procedure for hallux valgus deformity: a 5- to 20-year followup in 204 cases.

BACKGROUND: There are limited studies on the long term outcome of Mitchell's osteotomy for hallux valgus deformity. We present the long term results of 204 cases. MATERIALS AND METHODS: Postoperative clinical and radiological evaluation with a mean follow up of 12.9 years was performed on patients with preoperative hallux valgus angles (HVA) of up to 50 degrees and intermetatarsal angles (IMA) of up to 20 degrees. Two crossed Kirschner wires were used to fix the capital fragment; lateral soft tissue release performed when deemed necessary. Comparisons were made between the pre- and postoperative measurements using a Mann-Whitney U-test. Statistical significance was defined at p < 0.05. RESULTS: The mean AOFAS score improved from 49.6 to 87.9 points (p = 0.004). There was significant improvement in the HVA and IMA, 33.8 degrees versus 16.1 degrees (p = 0.002) and 15.2 degrees versus 8.2 degrees (p = 0.004), respectively. Fifty-seven cases (27.9%) had preoperative HVA greater than 40 degrees but only 16 required lateral soft tissue release with no significant difference in the postoperative HVA (21.3 versus 20.8, p = 0.08). There was a significant change in lateral metatarsalgia and symptomatic callosities (18.3% versus 11.8%, p = 0.023). In 97.6% of cases the patients were satisfied with the overall result. Revision surgery was performed in five cases (2.5%). CONCLUSION: Mitchell's osteotomy was a reliable technique with successful outcome and low complication rate when performed with Kirschner wire fixation and lateral soft tissue release when appropriate. It may also be successfully performed with hallux valgus angles greater than 40 degrees.

Posterior ankle arthroscopy portal safety regarding proximity to the tibial and sural nerves.

The aim of this cadaveric study was to assess the relative safety of posterior ankle arthroscopy portal sites regarding their distance from the tibial and sural nerves. We dissected 20 embalmed cadaveric lower limbs, carefully exposed the nerves, preserving their original position, and established the entry points of five posterior ankle portals using pins. We measured distances with a digital calliper and used Friedman test and Wilcoxon Signed Ranks tests for statistical analyses. There was unequal safety between the five portals (p = 0.00001). There was no statistically significant difference between the two posterolateral or two posteromedial portals. The trans-Achilles tendon portal as expected was significantly further away from either nerve (p = 0.00001). In conclusion, the trans-Achilles portal is the safest portal in terms of its distance from the nerves but has the disadvantage of surgical injury to the Achilles tendon. The two medial and two lateral posterior portals are equivalent in terms of safety.

The distance between the sural nerve and ideal portal placements in lateral subtalar arthroscopy: a cadaveric study.

BACKGROUND: There have been limited studies assessing the relative safety of lateral portals for subtalar arthroscopy in terms of their distance from the sural nerve and its branches. The aim of this cadaveric study was to assess and compare the distance of lateral subtalar arthroscopy portal sites to the sural nerve and its branches. MATERIALS AND METHODS: Twenty embalmed cadaveric lower limbs were dissected exposing the nerves and tendons and subtalar arthroscopy portals were replicated using pins. The anatomically important distances were measured with a digital caliper. Statistical analysis of the data was performed using SPSS for Windows 11.5 (SPSS Inc, Chicago, IL) using Friedman Tests and Wilcoxon Signed Ranks tests. RESULTS: The median distance of the anterior and middle subtalar portals to the nearest nerve was 21.3 mm and 20.9 mm, respectively, and 11.4 mm for the posterior portal. There was no statistically significant difference between anterior and middle portals (p=0.87) but there was statistically significant difference between anterior versus posterior and middle versus posterior portals (p=0.001 in each comparison). CONCLUSION: The anterior and middle subtalar portals were both less likely to damage important structures than the posterior subtalar portal. CLINICAL RELEVANCE: The results of this study can be of value to the surgeon when planning arthroscopic procedures to the subtalar joint from the lateral approach.

Purely intra-articular versus general anesthesia for proposed arthroscopic partial meniscectomy of the knee: a randomized controlled trial.

PURPOSE: The aim of this study was to compare intra-articular anesthesia alone versus general anesthesia with regard to ease of the procedure, level of postoperative pain, and patient satisfaction when partial meniscectomy is anticipated. METHODS: We prospectively randomized to general anesthesia or to intra-articular anesthesia 107 patients who were about to undergo knee arthroscopy, in whom partial meniscal resection was anticipated on the basis of clinical or radiologic grounds. Technical difficulty of the procedure, level of postoperative pain and nausea, and overall patient satisfaction were assessed. RESULTS: The ease of obtaining arthroscopic views, the adequacy of these views, and the ease of performing partial meniscal resection or another procedure were similar in both groups according to scores assigned by the operating surgeon. Pain at 6 hours postoperatively was significantly less in the intra-articular anesthesia group but was similar in the 2 groups at 24 and 48 hours. Patients who were given intra-articular anesthesia reported higher satisfaction rates in understanding the underlying disease of the knee. CONCLUSIONS: We propose that intra-articular anesthesia alone can be effectively used in knee arthroscopies in which partial meniscal resection is anticipated. LEVEL OF EVIDENCE: Level I, high-quality randomized controlled therapeutic trial.

When should old therapies be abandoned? A modern look at old studies on topical ampicillin.

OBJECTIVE: We sought to determine whether topical ampicillin can reduce the rate of wound infections in clean contaminated surgical wounds (appendectomy, colorectal surgery). METHOD: All randomized controlled trials examining the use of topical ampicillin in appendectomy and colorectal surgery published in English were identified via a Medline, Advanced Medline, and Cochraine Controlled Trials Register search and a meta-analysis performed.Results. Topical ampicillin vs. no antibiotic prophylaxis in clean contaminated wounds significantly reduced surgical wound infection rates (Odds Ratio (OR)=0.084, 95% CI, 0.04-0.16, P<0.0001). Topical ampicillin vs. no antibiotic prophylaxis in contaminated wounds also reduced surgical wound infection (OR=0.262, 95% CI, 0.14-0.51, P<0.0001). Topical ampicillin combined with systemic antibiotics vs. systemic antibiotics alone did not reduce surgical wound infection rate (OR=0.927, 95% CI, 0.27-1.72, P=0.90). CONCLUSION: Topical ampicillin significantly reduces the rate of surgical wound infections in clean contaminated surgery. A significant but smaller effect is seen in appendectomies where the appendix is gangrenous or perforated. Topical ampicillin did not confer any additional benefit when systemic antibiotics are used. While ampicillin may no longer be an effective agent, topical application of antibiotics is effective.Summary. A meta-analysis of studies using topical ampicillin for the prevention of infection in clean contaminated wound suggests that topical ampicillin is effective, but no incremental benefit is seen with systemic antibiotics.