The role of GDF5 in regulating enthesopathy development in the Hyp mouse model of XLH.

X-linked hypophosphatemia (XLH) is caused by mutations in PHEX, leading to rickets and osteomalacia. Adults affected with XLH develop a mineralization of the bone-tendon attachment site (enthesis), called enthesopathy, which causes significant pain and impaired movement. Entheses in mice with XLH (Hyp) have enhanced Bone Morphogenetic Protein (BMP) and Indian hedgehog (IHH) signaling. Treatment of Hyp mice with the BMP signaling blocker palovarotene attenuated BMP/IHH signaling in Hyp entheses, thus indicating that BMP signaling plays a pathogenic role in enthesopathy development and that IHH signaling is activated by BMP signaling in entheses. It was previously shown that mRNA expression of Gdf5 is enhanced in Hyp entheses at P14. Thus, to determine a role for GDF5 in enthesopathy development, Gdf5 was deleted globally in Hyp mice and conditionally in Scx + cells of Hyp mice. In both murine models, BMP/IHH signaling was similarly decreased in Hyp entheses, leading to decreased enthesopathy. BMP/IHH signaling remained unaffected in WT entheses with decreased Gdf5 expression. Moreover, deletion of Gdf5 in Hyp entheses starting at P30, after enthesopathy has developed, partially reversed enthesopathy. Taken together, these results demonstrate that while GDF5 is not essential for modulating BMP/IHH signaling in WT entheses, inappropriate GDF5 activity in Scx + cells contributes to XLH enthesopathy development. As such, inhibition of GDF5 signaling may be beneficial for the treatment of XLH enthesopathy.

X-linked hypophosphatemia (XLH) is a rare bone disorder that leads to short stature and poorly mineralized bones. As adults, patients with XLH often develop a mineralization of the bone-tendon attachment site, called enthesopathy, that results in significant pain. We previously showed that Achilles bone-tendon attachment sites (entheses) in mice with XLH (Hyp) have an enthesopathy characterized by increased Bone Morphogenetic Protein (BMP) signaling. In the current studies, we show that treating Hyp mice with the BMP signaling inhibitor palovarotene prevents enthesopathy, demonstrating that the increased BMP signaling in Hyp entheses leads to enthesopathy development. We also reported that expression of Gdf5, which activates BMP signaling, is enhanced in Hyp entheses. Therefore, to determine if the enhanced Gdf5 expression leads to the increased BMP signaling seen Hyp entheses, Gdf5 was deleted from Hyp mice and also deleted specifically in the entheses of Hyp mice. In both mouse models, enthesopathy development was attenuated, demonstrating that the increased Gdf5 expression in Hyp entheses plays a role in enthesopathy development. These data indicate that blocking GDF5 and BMP signaling may prevent enthesopathy in patients with XLH.

Chronic Subdural Hematoma Drainage under Local versus General Anesthesia: Systematic Review and Meta-Analysis.

BACKGROUND: Chronic subdural hematoma (CSDH) is one of the most frequently encountered neurosurgical conditions. Although the mainstay treatment of chronic subdural hematoma has been burr-hole drainage, no consensus yet exists on the optimal anesthetic strategy between general anesthesia (GA) and local anesthesia (LA). This systematic review compares postoperative outcomes after CSDH evacuation under LA and GA. METHODS: A search was conducted in MEDLINE (1946 to November 2023), Embase (1974 to November 2023), and PubMed (up to November 2023). We followed the PRISMA guidelines to systematically screen studies. RESULTS: Our literature search identified 629 studies, out of which 12 were included. There were 1035 patients in the LA group and 699 patients in the GA group. Our meta-analysis found that the LA group had significantly shorter operative time (mean difference, -29.28 minutes; P < 0.0001), length of admission (mean difference, -1.58 days; 95% confidence interval [CI], -2.40 to -0.76 days; P = 0.0002), and postoperative complications rate (odds ratio [OR], 0.38; 95% CI, 0.25-0.59; P < 0.0001) compared with GA. There was no significant difference between the 2 groups in revision rate (OR, 0.77; 95% CI, 0.39-1.51; P = 0.45) and mortality (OR, 1.23; 95% CI, 0.63-2.43; P = 0.55). CONCLUSIONS: In this meta-analysis, LA shows benefits in shorter operative time, shorter admission length, and fewer postoperative complications. This finding makes LA a less invasive alternative to GA, especially in elderly patients.

Long-Term (>24 Months) Duration of Symptoms Negatively Impacts Patient-Reported Outcomes Following Anterior Cervical Discectomy and Fusion for Cervical Radiculopathy.

STUDY DESIGN: Retrospective cohort study. OBJECTIVE: To investigate the impact of long symptom duration (>24 mo) on patient self-reported outcomes for pain, function, and quality of life following anterior cervical discectomy and fusion (ACDF) for cervical radiculopathy. SUMMARY OF BACKGROUND DATA: ACDF is an effective treatment to relieve the symptoms of cervical radiculopathy. However, there is no consensus on whether prolonged preoperative length of symptoms negatively impacts postoperative outcomes. METHODS: This study included consecutive patients who underwent ACDF for cervical radiculopathy from May 1, 2012 to Dec 1, 2019 by a single surgeon. Patients were stratified by short (<24 mo) and long (>24 mo) duration of symptoms. Outcomes including visual analog scale (VAS) neck and arm, neck disability index (NDI), EuroQol-5D (EQ-5D), and overall state of health (EQ-VAS) were compared between cohort both for absolute values and percentage of patients achieving minimal clinically important difference. RESULTS: A total of 111 consecutive patients were included in our study, including 59 patients in the short symptom duration group and 52 patients in the long symptom duration group. The mean age of the patients was 51.4±9.4 and 41 (36.9%) were female. The baseline VAS neck and arm, NDI, EQ-5D, and EQ-VAS were similar between groups. Patients in both long and short symptom duration groups had clinical improvement following surgery. However, patients with short symptom duration had better VAS Neck and EQ-5D outcomes, and were more likely to meet minimal clinically important difference for NDI, EQ-5D, or any outcome. Multivariate analysis confirmed symptom duration <24 months as an independent predictor for better patient-reported outcomes. CONCLUSION: We appreciated better clinical outcomes in patients with shorter symptom duration who received ACDF for cervical radiculopathy. On the basis of this data, we advocate for prompt treatment of cervical radiculopathy to avoid the potential for long-term impairment. LEVEL OF EVIDENCE: Level 3.

VSCode-Antimony: a source editor for building, analyzing, and translating antimony models.

MOTIVATION: Developing biochemical models in systems biology is a complex, knowledge-intensive activity. Some modelers (especially novices) benefit from model development tools with a graphical user interface. However, as with the development of complex software, text-based representations of models provide many benefits for advanced model development. At present, the tools for text-based model development are limited, typically just a textual editor that provides features such as copy, paste, find, and replace. Since these tools are not "model aware," they do not provide features for: (i) model building such as autocompletion of species names; (ii) model analysis such as hover messages that provide information about chemical species; and (iii) model translation to convert between model representations. We refer to these as BAT features. RESULTS: We present VSCode-Antimony, a tool for building, analyzing, and translating models written in the Antimony modeling language, a human readable representation of Systems Biology Markup Language (SBML) models. VSCode-Antimony is a source editor, a tool with language-aware features. For example, there is autocompletion of variable names to assist with model building, hover messages that aid in model analysis, and translation between XML and Antimony representations of SBML models. These features result from making VSCode-Antimony model-aware by incorporating several sophisticated capabilities: analysis of the Antimony grammar (e.g. to identify model symbols and their types); a query system for accessing knowledge sources for chemical species and reactions; and automatic conversion between different model representations (e.g. between Antimony and SBML). AVAILABILITY AND IMPLEMENTATION: VSCode-Antimony is available as an open source extension in the VSCode Marketplace https://marketplace.visualstudio.com/items?itemName=stevem.vscode-antimony. Source code can be found at https://github.com/sys-bio/vscode-antimony.

Impaired Growth Plate Maturation in XLH Is due to Both Excess FGF23 and Decreased 1,25-Dihydroxyvitamin D Signaling.

X-linked hypophosphatemia (XLH) is the most common form of hereditary hypophosphatemic rickets. The genetic basis for XLH is loss of function mutations in the phosphate-regulating endopeptidase X-linked (PHEX), which leads to increased circulating fibroblast growth factor 23 (FGF23). This increase in FGF23 impairs activation of vitamin D and attenuates renal phosphate reabsorption, leading to rickets. Previous studies have demonstrated that ablating FGF23 in the Hyp mouse model of XLH leads to hyperphosphatemia, high levels of 1,25-dihydroxyvitamin D, and is not associated with the development of rickets. Studies were undertaken to define a role for the increase in 1,25-dihydroxyvitamin D levels in the prevention of rickets in Hyp mice lacking FGF23. These mice were mated to mice lacking Cyp27b1, the enzyme responsible for activating vitamin D metabolites, to generate Hyp mice lacking both FGF23 and 1,25-dihydroxyvitamin D (FCH mice). Mice were fed a special diet to maintain normal mineral ion homeostasis. Despite normal mineral ions, Hyp mice lacking both FGF23 and Cyp27b1 developed rickets, characterized by an interrupted, expanded hypertrophic chondrocyte layer and impaired hypertrophic chondrocyte apoptosis. This phenotype was prevented when mice were treated with 1,25-dihydroxyvitamin D from day 2 until sacrifice on day 30. Interestingly, mice lacking FGF23 and Cyp27b1 without the PHEX mutation did not exhibit rickets. These findings define an essential PHEX-dependent, FGF23-independent role for 1,25-dihydroxyvitamin D in XLH and have important therapeutic implications for the treatment of this genetic disorder.

Bilateral occipital condyle fracture with an avulsion fracture of the foramen magnum: nonoperative care guided by a traction test. Illustrative case.

BACKGROUND: Bilateral occipital condyle fractures (OCFs) with involvement of the inferior clivus, otherwise known as "avulsion of the anterior foramen magnum," are an exceedingly rare injury with only a few published reports. OBSERVATIONS: A 24-year-old male presented with bilateral OCFs with involvement of the clivus after a motor vehicle accident. The patient had no neurological deficits and was successfully managed nonoperatively using a halo vest. The authors used a traction test to guide the duration of nonoperative care. The operative and nonoperative management of this rare injury is discussed with respect to other cases in the literature. LESSONS: External immobilization through a halo vest is an effective treatment option for bilateral OCFs with clivus involvement. The traction test can be used, along with computed tomography, to guide the duration of treatment.

No Sex Differences in Mechanical Thrombectomy Time Metrics and Outcomes in Saskatchewan.

BACKGROUND AND PURPOSE: Numerous studies have shown longer pre-hospital and in-hospital workflow times and poorer outcomes in women after acute ischemic stroke (AIS) in general and after endovascular treatment (EVT) in particular. We investigated sex differences in acute stroke care of EVT patients over 5 years in a comprehensive Canadian provincial registry. METHODS: Clinical data of all AIS patients who underwent EVT between January 2017 and December 2022 in the province of Saskatchewan were captured in the Canadian OPTIMISE registry and supplemented with patient data from administrative data sources. Patient baseline characteristics, transport time metrics, and technical EVT outcomes between female and male EVT patients were compared. RESULTS: Three-hundred-three patients underwent EVT between 2017 and 2022: 144 (47.5%) women and 159 (52.5%) men. Women were significantly older (median age 77.5 [interquartile range: 66-85] vs.71 [59-78], p < 0.001), while men had more intracranial internal carotid artery occlusions (48/159 [30.2%] vs. 26/142 [18.3%], p = 0.03). Last-known-well to comprehensive stroke center (CSC)-arrival time (median 232 min [interquartile range 90-432] in women vs. 230 min [90-352] in men), CSC-arrival-to-reperfusion time (median 108 min [88-149] in women vs. 102 min [77-141] in men), reperfusion status (successful reperfusion 106/142 [74.7%] in women vs. 117/158 [74.1%] in men) as well as modified Rankin score at 90 days did not differ significantly. This held true after adjusting for baseline variables in multivariable analyses. CONCLUSION: While women undergoing EVT in the province of Saskatchewan were on average older than men, they were treated just as fast and achieved similar technical and clinical outcomes compared to men.

1,25-Dihydroxyvitamin D3 regulates furin-mediated FGF23 cleavage.

Intact fibroblast growth factor 23 (iFGF23) is a phosphaturic hormone that is cleaved by furin into N-terminal and C-terminal fragments. Several studies have implicated vitamin D in regulating furin in infections. Thus, we investigated the effect of 1,25-dihydroxyvitamin D3 [1,25(OH)2D] and the vitamin D receptor (VDR) on furin-mediated iFGF23 cleavage. Mice lacking VDR (Vdr-/-) had a 25-fold increase in iFGF23 cleavage, with increased furin levels and activity compared with wild-type (WT) littermates. Inhibition of furin activity blocked the increase in iFGF23 cleavage in Vdr-/- animals and in a Vdr-knockdown osteocyte OCY454 cell line. Chromatin immunoprecipitation revealed VDR binding to DNA upstream of the Furin gene, with more transcription in the absence of VDR. In WT mice, furin inhibition reduced iFGF23 cleavage, increased iFGF23, and reduced serum phosphate levels. Similarly, 1,25(OH)2D reduced furin activity, decreased iFGF23 cleavage, and increased total FGF23. In a post hoc analysis of a randomized clinical trial, we found that ergocalciferol treatment, which increased serum 1,25(OH)2D, significantly decreased serum furin activity and iFGF23 cleavage, compared with placebo. Thus, 1,25(OH)2D inhibits iFGF23 cleavage via VDR-mediated suppression of Furin expression, thereby providing a mechanism by which vitamin D can augment phosphaturic iFGF23 levels.

Pediatric intracranial tuberculoma: illustrative case.

BACKGROUND: Tuberculosis is an airborne disease caused by Mycobacterium tuberculosis. Intracranial tuberculoma is a rare complication of extrapulmonary tuberculosis due to hematogenous spread to subpial and subependymal regions. Intracranial tuberculoma can occur with or without meningitis. OBSERVATIONS: A 3-year-old male who had recently emigrated from Sudan presented to the emergency department with right-sided seizures lasting 30 minutes, which were aborted with levetiracetam and midazolam. Head computed tomography revealed a multilobulated left supratentorial mass with solid and cystic components and measuring 8.0 × 4.8 × 6.5 cm. The patient had successful resection of the mass, which was positive for M. tuberculosis. He was started on rifampin, isoniazid, pyrazinamide, ethambutol, and fluoroquinolone and was discharged home in stable condition. LESSONS: A literature review on pediatric intracranial tuberculoma was performed, which included 48 studies (n = 49). The mean age was 8.8 ± 5.4 years with a slight female predilection (59%). Predominant solitary tuberculomas (63%) were preferentially managed with both resection and antituberculosis therapy (ATT), whereas multifocal tuberculomas were preferentially managed with ATT. Intracranial tuberculoma is a rare but treatable cause of space-occupying lesions in children. Clinicians should maintain a high level of suspicion in patients from endemic regions and involve the infectious disease service early.

Impaired 1,25-dihydroxyvitamin D3 action underlies enthesopathy development in the Hyp mouse model of X-linked hypophosphatemia.

X-linked hypophosphatemia (XLH) is characterized by high serum fibroblast growth factor 23 (FGF23) levels, resulting in impaired 1,25-dihydroxyvitamin D3 (1,25D) production. Adults with XLH develop a painful mineralization of the tendon-bone attachment site (enthesis), called enthesopathy. Treatment of mice with XLH (Hyp) with 1,25D or an anti-FGF23 Ab, both of which increase 1,25D signaling, prevents enthesopathy. Therefore, we undertook studies to determine a role for impaired 1,25D action in enthesopathy development. Entheses from mice lacking vitamin D 1α-hydroxylase (Cyp27b1) (C-/-) had a similar enthesopathy to Hyp mice, whereas deletion of Fgf23 in Hyp mice prevented enthesopathy, and deletion of both Cyp27b1 and Fgf23 in mice resulted in enthesopathy, demonstrating that the impaired 1,25D action due to high FGF23 levels underlies XLH enthesopathy development. Like Hyp mice, enthesopathy in C-/- mice was observed by P14 and was prevented, but not reversed, with 1,25D therapy. Deletion of the vitamin D receptor in scleraxis-expressing cells resulted in enthesopathy, indicating that 1,25D acted directly on enthesis cells to regulate enthesopathy development. These results show that 1,25D signaling was necessary for normal postnatal enthesis maturation and played a role in XLH enthesopathy development. Optimizing 1,25D replacement in pediatric patients with XLH is necessary to prevent enthesopathy.

Highlights from the 24th workshop on vitamin D in Austin, September 2022.

The 24th Workshop on Vitamin D was held September 7-9, 2022 in Austin, Texas and covered a wide diversity of research in the vitamin D field from across the globe. Here, we summarize the meeting, individual sessions, awards and presentations given.

Assessing the robustness of negative vascular surgery randomized controlled trials using their reverse fragility index.

OBJECTIVE: The reverse fragility index (RFI) describes the number of event conversions needed to convert a statistically nonsignificant dichotomous outcome to a significant one. The objective of the present study was to assess the RFI of vascular surgery randomized controlled trials (RCTs) comparing endovascular vs open surgery for the treatment of abdominal aortic aneurysms (AAAs), carotid artery stenosis (CAS), and peripheral artery disease (PAD). METHODS: MEDLINE and Embase were searched for RCTs that had investigated AAAs, CAS, or PAD with statistically nonsignificant binary primary outcomes. The primary outcome for the present study was the median RFI. Calculation of the RFI was performed by creating two-by-two contingency tables and subtracting events from the group with fewer events and adding nonevents to the same group until a two-tailed Fisher exact test had produced a statistically significant result (P ≤ .05). RESULTS: Of 4187 reports, 49 studies reporting 103 different primary end points were included. The overall median RFI was 7 (interquartile range [IQR], 5-13). The specific RFIs for AAA, CAS, and PAD were 10 (IQR, 6-15.5), 6 (IQR, 5-9.5), and 7 (IQR, 5.5-10), respectively. Of the 103 end points, 42 (47%) had had a loss to follow-up greater than the RFI, of which 10 were AAA trials (24%), 23 were CAS trials (55%), and 9 were PAD trials (21%). The Pearson correlation demonstrated a significant positive relationship between a study's RFI and the impact factor of its publishing journal (r = 0.38; 95% confidence interval [CI], 0.20-0.54; P < .01), length of follow-up (r = 0.43; 95% CI, 0.26-0.58; P < .01), and sample size (r = 0.28; 95% CI, 0.09-0.45; P < .01). CONCLUSIONS: A small number of events (median, 7) was required to change the outcome of negative RCTs from statistically nonsignificant to significant, with 47% of the studies having missing data that could have reversed the finding of its primary outcome. Reporting of the RFI relative to the loss to follow-up could be of benefit in future trials and provide confidence regarding the robustness of the P value.

Open surgical repair of giant hepatic artery aneurysm.

Hepatic artery aneurysms (HAAs) are visceral artery aneurysms with a significant risk of mortality upon rupture. HAAs can be treated with open or endovascular repair. The choice of treatment modality depends on aneurysm anatomy, adequacy of visceral collaterals, and overall health status of the patient. This case report describes the successful repair of a giant 14.9-cm HAA through open aneurysm resection and end-to-end anastomosis of the distal common hepatic artery to the gastroduodenal artery. The patient recovered postoperatively with no complications and normal liver function. This case report also reviews other giant HAAs that have been reported in literature.

Stemless reverse total shoulder arthroplasty: a systematic review of short- and mid-term results.

INTRODUCTION: Stemless reverse total shoulder arthroplasty is used to treat rotator cuff deficient arthropathies, rheumatoid arthritis, and osteoarthritis. It has several advantages over the stemmed implant including preservation of bone stock, reduced surgical time, and easier revision. METHODS: A systematic search was conducted in MEDLINE, EMBASE, PubMed, and CENTRAL to retrieve all relevant studies evaluating stemless reverse total shoulder arthroplasty. RESULTS: The literature search identified 1993 studies out of which 7 studies were included in this review; 324 patients underwent stemless reverse total shoulder arthroplasty with a weighted mean age of 74.1 (SD = 8.6, range = 38 to 93) years and a weighted mean follow-up time of 44 (SD = 6.6, range = 3 to 95) months. The included studies reported significant improvements in range of motion and functional scores comparable to stemmed reverse total shoulder arthroplasty. The weight mean flexion and abduction was (135 ± 12)° and (131 ± 12)° post-operatively, respectively. The weighted mean constant score increased from (26.7 ± 5.2) Patients (pts) to (63.0 ± 8.0) pts post-operatively. Overall complication and revision rate were 12.3% and 5.2%. CONCLUSION: Early and mid-term results indicate stemless reverse total shoulder arthroplasty has similar clinical outcomes to stemmed reverse total shoulder arthroplasty. There was no radiological evidence of humeral loosening at the latest follow-up.

Cough symptom severity in patients with refractory or unexplained chronic cough: a systematic survey and conceptual framework.

BACKGROUND: Cough severity represents an important subjective endpoint in assessing the effectiveness of therapies for patients with chronic cough. Although cough-specific quality of life questionnaires exist, a widely available cough severity instrument with established measurement properties remains unavailable. AIMS: To identify and summarise the results of studies reporting on the experience of patients with chronic cough and, in the process, develop a conceptual framework to inform development of a patient-reported outcome measurement (PROM) addressing cough severity. RESULTS: We identified 61 eligible studies reporting on patient experience with chronic cough. Studies provided 82 potential items, of which 43 proved unique and relevant to cough severity. The urge-to-cough sensation and the cough symptom itself represented broad domains of cough severity. Two subdomains under urge-to-cough included frequency (1 item) and intensity (1 item). Five subdomains under cough symptoms included control (2 items), frequency (6 items), bout duration (1 item), intensity (8 items), and associated features/sequelae (24 items). CONCLUSIONS: Our systematic survey and conceptual framework identified items and domains of cough severity in patients with refractory or unexplained chronic cough. The results support item generation and content validity for a PROM assessing cough severity.

Impaired 1,25 dihydroxyvitamin D3 action and hypophosphatemia underlie the altered lacuno-canalicular remodeling observed in the Hyp mouse model of XLH.

Osteocytes remodel the perilacunar matrix and canaliculi. X-linked hypophosphatemia (XLH) is characterized by elevated serum levels of fibroblast growth factor 23 (FGF23), leading to decreased 1,25 dihydroxyvitamin D3 (1,25D) production and hypophosphatemia. Bones from mice with XLH (Hyp) have enlarged osteocyte lacunae, enhanced osteocyte expression of genes of bone remodeling, and impaired canalicular structure. The altered lacuno-canalicular (LCN) phenotype is improved with 1,25D or anti-FGF23 antibody treatment, pointing to roles for 1,25D and/or phosphate in regulating this process. To address whether impaired 1,25D action results in LCN alterations, the LCN phenotype was characterized in mice lacking the vitamin D receptor (VDR) in osteocytes (VDRf/f;DMP1Cre+). Mice lacking the sodium phosphate transporter NPT2a (NPT2aKO) have hypophosphatemia and high serum 1,25D levels, therefore the LCN phenotype was characterized in these mice to determine if increased 1,25D compensates for hypophosphatemia in regulating LCN remodeling. Unlike Hyp mice, neither VDRf/f;DMP1Cre+ nor NPT2aKO mice have dramatic alterations in cortical microarchitecture, allowing for dissecting 1,25D and phosphate specific effects on LCN remodeling in tibial cortices. Histomorphometric analyses demonstrate that, like Hyp mice, tibiae and calvariae in VDRf/f;DMP1Cre+ and NPT2aKO mice have enlarged osteocyte lacunae (tibiae: 0.15±0.02µm2(VDRf/f;DMP1Cre-) vs 0.19±0.02µm2(VDRf/f;DMP1Cre+), 0.12±0.02µm2(WT) vs 0.18±0.0µm2(NPT2aKO), calvariae: 0.09±0.02µm2(VDRf/f;DMP1Cre-) vs 0.11±0.02µm2(VDRf/f;DMP1Cre+), 0.08±0.02µm2(WT) vs 0.13±0.02µm2(NPT2aKO), p<0.05 all comparisons) and increased immunoreactivity of bone resorption marker Cathepsin K (Ctsk). The osteocyte enriched RNA isolated from tibiae in VDRf/f;DMP1Cre+ and NPT2aKO mice have enhanced expression of matrix resorption genes that are classically expressed by osteoclasts (Ctsk, Acp5, Atp6v0d2, Nhedc2). Treatment of Ocy454 osteocytes with 1,25D or phosphate inhibits the expression of these genes. Like Hyp mice, VDRf/f;DMP1Cre+ and NPT2aKO mice have impaired canalicular organization in tibia and calvaria. These studies demonstrate that hypophosphatemia and osteocyte-specific 1,25D actions regulate LCN remodeling. Impaired 1,25D action and low phosphate levels contribute to the abnormal LCN phenotype observed in XLH.

Stethopedia: an e-learning resource for medical students to supplement Canadian clinical skills education.

Online clinical skills videos can supplement teaching and allow for greater flexibility when learning physical examination skills. There are currently few open access clinical skills video resources available for Canadian medical students. Stethopedia is an easy-to-use, open-access library of clinical skills teaching videos based on the Canadian medical curriculum. We created Stethopedia to increase accessibility to clinical skills resources and improve the competency and confidence of medical students performing clinical skills on examinations and clerkship rotations. Medical students would benefit from similar resources based on their school's specific curriculum in order to improve clinical skill performance.

Les vidéos disponibles en ligne sur les habiletés cliniques peuvent améliorer l'apprentissage de nouvelles compétences cliniques. Cependant, il existe très peu de ressources canadiennes gratuites qui enseignent les compétences cliniques basées sur la vidéo. Stethopedia est une bibliothèque qui est facile à utiliser et à l'accès libre avec des vidéos d'enseignement des compétences cliniques basées sur le curriculum médical canadien. Nous avons créé Stethopedia pour accroître l'accessibilité aux ressources de compétences cliniques et améliorer la compétence et la confiance des étudiants en médecine qui exécutent des compétences cliniques pendant leurs examens et l'externat. Les étudiants en médecine bénéficieraient de ressources similaires basées sur le programme spécifique de leur école afin d'améliorer leurs compétences cliniques.

Outcomes of scapulothoracic fusion in facioscapulohumeral muscular dystrophy: A systematic review.

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is a rare condition associated with selective weakness of the muscles of the upper arm, face, and shoulder girdle, negatively affecting daily activities. Scapulothoracic arthrodesis may restore shoulder function and improve quality of life. The purpose of this review is to evaluate the outcomes and complications of scapulothoracic arthrodesis in FSHD patients. METHODS: Medline, Pubmed, and Embase were systematically searched. Studies were included if they described scapulothoracic arthrodesis in FSHD with follow-up, and outcomes were adequately reported. Thirteen eligible articles reported the outcomes of 199 arthrodesis in 130 patients. RESULTS: The mean gain of shoulder forward elevation and abduction were 45° (p < 0.05) and 40° (p < 0.05), respectively. There was an overall cosmetic satisfaction and improved performance of daily activities. There is limited and heterogeneous data on changes in pulmonary function, but such changes are clinically insignificant. The rate of complications was 41% of which 10% were serious, requiring an intervention or re-admission. The most common complications were hardware failure (8%), non-union (6%), and pneumothorax (5%). DISCUSSION: Scapulothoracic arthrodesis improved cosmesis, performance of daily activities and shoulder motion with no clinically significant loss of pulmonary function. The complication rate is high, and some are potentially serious.