SUFU-associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma

Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by an aberrant activation of the hedgehog (Hh) pathway, most cases being caused by PTCH1 mutations. However, certain features such as multiple hereditary infundibulocystic basal cell carcinomas (MHIBCC), sclerotic fibromas, childhood medulloblastoma or meningioma may be relatively specific to a SUFU mutation. We present two patients with MHIBCC, along with a more complex cutaneous and extracutaneous phenotype. MHIBCC syndrome and BCNS may share clinical features and, indeed, both syndromes probably represent different degrees of upregulation in the Hh pathway.     

Rapid CT scan visualization of the appendix and early acute non-perforated appendicitis using an improved oral contrast method

The purpose of this study was to optimize detection of the normal appendix in the clinical exclusion of acute nonperforated appendicitis using an improved and rapid method of bowel opacification in conjunction with the CT examination. A prospective evaluation of 100 consecutive patients, ranging from 13 to 50 years in age, was performed over a 4-month period using water-soluble oral contrast medium consisting of a fixed dose of diatrizoate salts administered as a prepared beverage in the emergency ward 50 min prior to performing a CT scan to evaluate clinical signs and symptoms of early acute appendicitis. The appendix was visualized in 84% (84 of 100) of patients, with a mean transit time of 50 min. The appendix filled with oral contrast medium in 89% (75 of 84) patients, and this sign was reliable in excluding appendicitis. In no instance did a contrast-filled appendix prove to represent appendicitis. The earliest signs of appendicitis were seen in 8% (8 of 100) patients. CT scan findings included absence of a contrast- or air-containing appendix with appendiceal thickening and infiltration of the periappendiceal mesenteric fat. CT scan utilizing a fixed dosage of orally administered water-soluble contrast containing diatrizoate salts, with a mean transit time of 50 min, provides a rapid and efficient means of visualizing the appendix in the clinical exclusion of appendicitis in the emergency setting.     

Prediction of renal and cardiometabolic outcomes in gout during urate-lowering therapy by sonography

Objectives

To assess whether the extent of monosodium urate (MSU) crystal deposition estimated by ultrasound could predict renal and cardiometabolic events during urate-lowering therapy (ULT).

Methods

A prospective study on gout patients from two referral centers initiating ULT who underwent baseline ultrasound and were followed for 1 year. Ultrasound scans assessed six joints for double-contour (DC) signs and tophi. A five-point change (mL/min/1.73 m²) in the glomerular filtration rate at month 12 (M12) was considered significant. Outcomes of interest were renal function degraded versus improved and a composite cardiometabolic outcome (new hypertension, diabetes, atherosclerotic disease, and cardiovascular death). Homogeneity analyses and Cox regression models were performed.

Results

One hundred sixty patients were recruited. At baseline, 81.1% of patients (n = 129) showed sonographic tophi with a mean number of 1.4 joints (±1.3) with a DC sign. At M12, 18 patients (11.3%) were lost to follow-up. The serum urate (SU) target (<6.0 mg/dL) was reached in 86 patients (69.9%). Regarding renal function, 15.9% of patients showed improvement, while in 31.0% it degraded. Fourteen new cardiometabolic events occurred in 12 patients. Neither the DC sign nor tophi showed any significant impact on the outcomes of interest. Baseline SU level was higher in those with renal improvement but not with renal decline, while achieving the SU target protected against new cardiometabolic events (HR = 0.2; 95% CI: 0.05–0.81).

Conclusions

Sonographic MSU crystal burden was unhelpful in predicting renal and cardiometabolic events during the first year of ULT. Reaching the SU target prevented cardiometabolic events, while its benefit in preserving/improving renal function is unclear.     

Lesiones traumáticas aisladas del nervio axilar. Experiencia en 4 casos de transferencia nerviosa radial y revisión de la literatura

ObjectiveTo analyze the results of an initial series of four cases of traumatic injuries of the axillary nerve, treated by a nerve transfer from the triceps long branch of the radial nerve. An extensive analysis of the literature has also been made.Materials and methodsFour patients aged between 21 and 42 years old presenting an isolated traumatic palsy of the axillary nerve were operated between January 2007 and June 2010. All cases were treated by nerve transfer six to eight months after the trauma. The results of these cases are analyzed, the same as the axillary nerve injuries series presented in the literature from 1982.ResultsOne year after the surgery, all patients improved their abduction a mean of 70° (range 30 to 120°), showing a M4 in the British Medical Council Scale. No patient complained of triceps weakness after the procedure. These results are similar to those published employing primary grafting for the axillary nerve.ConclusionsIsolated injuries of the axillary nerve should be treated with surgery when spontaneous recovery is not verified 6 months after the trauma. Primary repair with grafts is the most popular surgical technique, with a rate of success of approximately 90%. The preliminary results of a nerve transfer employing the long triceps branch are similar, and a definite comparison of both techniques with a bigger number of cases should be done in the future.     

The Cost-Effectiveness of Silver-Impregnated Occlusive Dressings for Infection Prevention After Total Joint Arthroplasty

BackgroundProsthetic joint infection (PJI) is a catastrophic complication after total joint arthroplasty that exacts a substantial economic burden on the health-care system. This study used break-even analysis to investigate whether the use of silver-impregnated occlusive dressings is a cost-effective measure for preventing PJI after primary total knee arthroplasty (TKA) and total hip arthroplasty (THA).MethodsBaseline infection rates after TKA and THA, the cost of revision arthroplasty for PJI, and the cost of a silver-impregnated occlusive dressing were determined based on institutional data and the existing literature. A break-even analysis was then conducted to calculate the minimal absolute risk reduction needed for cost-effectiveness.ResultsThe use of silver-impregnated occlusive dressings would be economically viable at an infection rate of 1.10%, treatment costs of $25,692 for TKA PJI, and $31,753 for THA PJI and our institutional dressing price of $38.05 if it reduces infection rates after TKA by 0.15% (the number needed to treat [NNT] = 676) and THA by 0.12% (NNT = 835). The absolute risk reduction needed to maintain cost-effectiveness did not change with varying initial infection rates and remained less than 0.40% (NNT = 263) for infection treatment costs as low as $10,000 and less than 0.80% (NNT = 129) for dressing prices as high as $200.ConclusionThe use of silver-impregnated occlusive dressings is a cost-effective measure for infection prophylaxis after TKA and THA.