Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction

We describe a case of hereditary hypophosphatemic rickets with hypercalciuria (HHRH) in a 32-year-old female with short stature, chronic pathologic genu valgum deformity, and knee pain who was referred to endocrinology clinic after previous inconclusive workups. We present imaging spanning 10 years of untreated disease. Biochemical studies showed hypophosphatemia with undetectable fibroblast growth factor 23 (FGF23.) Renal ultrasound revealed bilateral medullary nephrocalcinosis despite no apparent hypercalciuria. Due to concern for HHRH, genetic testing was performed that determined this patient to be homozygous in the SLC34A3 gene for a previously described missense variant (c.1402C \u3e T, p.Arg468Trp). There was no known family history of rickets. A bone biopsy with metabolic studies was performed for diagnostic and prognostic reasons. The histopathological findings along with tetracycline uptake studies were consistent with a diagnosis of HHRH. Treatment with phosphorous supplementation and surgical correction of her valgum deformity resulted in resolution of pain, but no change in bone histomorphometry

Prophylactic antibiotic regimens in tumor surgery (PARITY) survey

BACKGROUND: Deep infection following endoprosthetic limb reconstruction for sarcoma of the long bones is a devastating complication occurring in 15% of sarcoma patients. Optimizing infection protocols and conducting definitive surgical trials are critical to improving outcomes. In this study, the PARITY (Prophylactic Antibiotic Regimens in Tumor Surgery) investigators aimed to examine surgeon preferences in antibiotic prophylaxis and perceptions about current evidence, as well as to ascertain interest in resolving uncertainty in the evidence with clinical trials. METHODS: We used a cross-sectional survey to examine current practice in the prescription of prophylactic antibiotics in Musculoskeletal Tumor Surgery. The survey was approved by our institution’s Ethics Board and emailed to all Active Members of the Musculoskeletal Tumor Society (MSTS) and Canadian Orthopaedic Oncology Society (CANOOS). Survey answers were collected using an anonymous online survey tool. RESULTS: Of the 96 surgeons who received the questionnaire, 72 responded (75% response rate (% CI: 65.5, 82.5%)). While almost all respondents agreed antibiotic regimens were important in reducing the risk of infection, respondents varied considerably in their choices of antibiotic regimens and dosages. Although 73% (95% CI: 61, 82%) of respondents prescribe a first generation cephalosporin, 25% favor additional coverage with an aminoglycoside and/or Vancomycin. Of those who prescribe a cephalosporin, 33% prescribe a dosage of one gram for all patients and the reminder prescribe up to 2 grams based on body weight. One in three surgeons (95% CI: 25, 48%) believes antibiotics could be discontinued after 24 hours but 40% (95% CI: 30, 53%) continue antibiotics until the suction drain is removed. Given the ongoing uncertainty in evidence to guide best practices, 90% (95% CI: 81, 95%) of respondents agreed that they would change their practice if a large randomized controlled trial showed clear benefit of an antibiotic drug regimen different from what they are currently using. Further support for a clinical trial was observed by an overwhelming surgeon interest (87%; 95% CI: 77, 93%) in participating in a multi-center randomized controlled study. CONCLUSION: The current lack of guidelines for the prescription of prophylactic antibiotics in Musculoskeletal Tumor Surgery has left Orthopaedic Oncologists with varying opinions and practices. The lack of current evidence and strong surgeon support for participating in a definitive study provides strong rationale for clinical trials

What Is the Current Status of Global Health Activities and Opportunities in US Orthopaedic Residency Programs?

BACKGROUND: Interest in developing national health care has been increasing in many fields of medicine, including orthopaedics. One manifestation of this interest has been the development of global health opportunities during residency training. QUESTIONS/PURPOSES: We assessed global health activities and opportunities in orthopaedic residency in terms of resident involvement, program characteristics, sources of funding and support, partner site relationships and geography, and program director opinions on global health participation and the associated barriers. METHODS: An anonymous 24-question survey was circulated to all US orthopaedic surgery residency program directors (n = 153) by email. Five reminder emails were distributed over the next 7 weeks. A total of 59% (n = 90) program directors responded. RESULTS: Sixty-one percent of responding orthopaedic residencies facilitated clinical experiences in developing countries. Program characteristics varied, but most used clinical rotation or elective time for travel (76%), which most frequently occurred during Postgraduate Year 4 (57%) and was used to provide pediatric (66%) or trauma (60%) care. The majority of programs (59%) provided at least some funding to traveling residents and sent accompanying attendings on all ventures (56%). Travel was most commonly within North America (85%), and 51% of participating programs have established international partner sites although only 11% have hosted surgeons from those partnerships. Sixty-nine percent of residency directors believed global health experiences during residency shape future volunteer efforts, 39% believed such opportunities help attract residents to a training program, and the major perceived challenges were funding (73%), faculty time (53%), and logistical planning (43%). CONCLUSIONS: Global health interest and activity are common among orthopaedic residency programs. There is diversity in the characteristics and geographical locations of such activity, although some consensus does exist among program directors around funding and faculty time as the largest challenges

Prophylactic antibiotic regimens in tumour surgery (PARITY): protocol for a multicentre randomised controlled study.

IntroductionLimb salvage with endoprosthetic reconstruction is the standard of care for the management of lower-extremity bone tumours in skeletally mature patients. The risk of deep postoperative infection in these procedures is high and the outcomes can be devastating. The most effective prophylactic antibiotic regimen remains unknown, and current clinical practice is highly varied. This trial will evaluate the effect of varying postoperative prophylactic antibiotic regimens on the incidence of deep infection following surgical excision and endoprosthetic reconstruction of lower-extremity bone tumours.Methods and analysisThis is a multicentre, blinded, randomised controlled trial, using a parallel two-arm design. 920 patients 15 years of age or older from 12 tertiary care centres across Canada and the USA who are undergoing surgical excision and endoprosthetic reconstruction of a primary bone tumour will receive either short (24 h) or long (5 days) duration postoperative antibiotics. Exclusion criteria include prior surgery or infection within the planned operative field, known colonisation with methicillin-resistant Staphylococcus aureus or vancomycin-resistant Enterococcus at enrolment, or allergy to the study antibiotics. The primary outcome will be rates of deep postoperative infections in each arm. Secondary outcomes will include type and frequency of antibiotic-related adverse events, patient functional outcomes and quality-of-life scores, reoperation and mortality. Randomisation will be blocked, with block sizes known only to the methods centre responsible for randomisation, and stratified by location of tumour and study centre. Patients, care givers and a Central Adjudication Committee will be blinded to treatment allocation. The analysis to compare groups will be performed using Cox regression and log-rank tests to compare survival functions at α=0.05.Ethics and disseminationThis study has ethics approval from the McMaster University/Hamilton Health Sciences Research Ethics Board (REB# 12-009). Successful completion will significantly impact on clinical practice and enhance patients' lives. More broadly, this trial will develop a network of collaboration from which further high-quality trials in Orthopaedic Oncology will follow

Milk Lacking α-Casein Leads to Permanent Reduction in Body Size in Mice

The major physiological function of milk is the transport of amino acids, carbohydrates, lipids and minerals to mammalian offspring. Caseins, the major milk proteins, are secreted in the form of a micelle consisting of protein and calcium-phosphate