Phenotypic and mutational spectrum of ROR2-related Robinow syndrome.

Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. A significant degree of phenotypic variability seems to correlate with different genes/loci. Disturbances of the noncanonical WNT-pathway have been identified as the main cause of the syndrome. Biallelic variants in ROR2 cause an autosomal recessive form of the syndrome with distinctive skeletal findings. Twenty-two patients with a clinical diagnosis of autosomal recessive Robinow syndrome were screened for variants in ROR2 using multiple molecular approaches. We identified 25 putatively pathogenic ROR2 variants, 16 novel, including single nucleotide variants and exonic deletions. Detailed phenotypic analyses revealed that all subjects presented with a prominent forehead, hypertelorism, short nose, abnormality of the nasal tip, brachydactyly, mesomelic limb shortening, short stature, and genital hypoplasia in male patients. A total of 19 clinical features were present in more than 75% of the subjects, thus pointing to an overall uniformity of the phenotype. Disease-causing variants in ROR2, contribute to a clinically recognizable autosomal recessive trait phenotype with multiple skeletal defects. A comprehensive quantitative clinical evaluation of this cohort delineated the phenotypic spectrum of ROR2-related Robinow syndrome. The identification of exonic deletion variant alleles further supports the contention of a loss-of-function mechanism in the etiology of the syndrome.

Patient Satisfaction and Sensory Attributes of Nasal Spray Treatments of Olopatadine Hydrochloride/Mometasone Furoate Monohydrate and Azelastine Hydrochloride/Fluticasone Propionate for Allergic Rhinitis in Australia - An Observational Real-World Clinical Study.

Purpose: Combination intranasal corticosteroid and antihistamine sprays are a first-line treatment option for allergic rhinitis (AR), of which Azelastine Hydrochloride and Fluticasone Propionate nasal spray (AZE/FLU; Dymista®), and Olopatadine Hydrochloride and Mometasone Furoate Monohydrate nasal spray (OLO/MOM; Ryaltris®) are currently registered in Australia. As it is not known how patients value treatment attributes of current combination nasal sprays, this observational, real-world clinical study aimed to understand patients' satisfaction with, and importance of, treatment attributes of OLO/MOM and AZE/FLU using an Anchored Best-Worst Scaling (ABWS) exercise. Participants and Methods: Four hundred and twenty-six adults in Australia with moderate to severe AR using either OLO/MOM or AZE/FLU completed an online survey incorporating an ABWS with 11 domains: 7 sensory (immediate taste of medication, aftertaste of medication, smell of medication, irritation to your nose, urge to sneeze, dripping out your nose/down your throat, dryness of your nose/throat) and 4 treatment-related (convenience, fast acting, duration of effect, and AR symptom control). The ABWS involved rescaling individual BWS scores using anchored ratings (0-10) for most and least satisfied/important domains to create a total satisfaction index (TSI) (0-100) to be compared across groups. Statistical comparisons were completed using ANOVA (TSI) and MANOVA (individual domains). Results: Participants using OLO/MOM (M = 68.26, SE = 1.39) had significantly higher TSI than participants using AZE/FLU (M=62.78, SE = 0.70) (p < 0.001), significantly higher satisfaction on 7 of 11 domains and regarded 8 of 11 domains as significantly more important compared to participants using AZE/FLU (all p < 0.05). Preferred domains were predominantly sensory attributes. Conclusion: Current findings showed that participants using OLO/MOM were more satisfied with their overall treatment compared to participants using AZE/FLU, particularly with sensory attributes, thus highlighting the suitability of OLO/MOM for people with AR who value sensory attributes. Prescribers of AR treatments are encouraged to discuss treatment attributes with patients to facilitate shared decision-making.

Comparing Relative Value Units among Shoulder Arthroplasty, Hemiarthroplasty, and ORIF for Proximal Humerus Fractures in the Elderly: Which is Most Worth Your Time?

BACKGROUND: Relative value units (RVUs) are assigned to Current Procedural Technology (CPT) codes and give relative economic values to the services physicians provide. This study compared the RVU reimbursements for the surgical options of proximal humerus fractures in the elderly, which include arthroplasty (reverse [RSA] and total [TSA]), hemiarthroplasty (HA), and open reduction and internal fixation (ORIF). METHODS: Using the National Surgical Quality Improvement Program, a total of 1,437 patients of at least 65 years of age with proximal humerus fractures between 2008 and 2016 were identified. Of those, 259 underwent RSA/TSA (CPT code 23472), 418 underwent HA (CPT codes 23470 and 23616), and 760 underwent ORIF (CPT code 23615). Univariate analysis compared RVU per minute, reimbursement rate, and the average annual revenue across cohorts based on respective operative times. RESULTS: RSA/TSA generated a mean RVU per minute of 0.197 (SD 0.078; 95%CI [0.188, 0.207]), which was significantly greater than the mean RVU per minute for 23470 HA (0.156; SD 0.057; 95%CI [0.148, 0.163]), 23616 HA (0.166; SD 0.065; 95%CI [0.005, 0.156]), and ORIF (0.135; SD 0.048; 95%CI [0.132, 0.138]; P<0.001). This converted to respective reimbursement rates of $6.97/min (SD 2.78; 95%CI [6.63, 7.31]), $5.48/min (SD 2.05; 95%CI [5.22, 5.74]), $5.83/min (SD 2.28; 95%CI [5.49, 6.16]) and $4.74/min (SD 1.69; 95%CI [4.62, 4.87]). After extrapolation, respective average annual revenues were $580,386, $456,633, $475,077, and $395,608. CONCLUSION: RSA/TSA provides significantly greater reimbursement rates compared to HA and ORIF. Orthopaedic surgeons can use this information to optimize daily procedural cost-effectiveness in their practices.

"Crown of Death"; Corona Mortis, a Common Vascular Variant in Pelvis: Identification at Routine 64-Slice CT-Angiography.

OBJECTIVE: To establish the incidence of arterial corona mortis variant in angiographic studies being performed using a 64 slice CT scan machine in a series of patients. METHODS: This was a prospective cross-sectional study including 100 consecutive patients undergoing routine clinically indicated, standard protocol, CT-angiography for the abdominal aorta and/or lower limbs using a 64 slice CT scanner. Patients having severe arterial insufficiency (Grade 4 stenosis on CT angiography), pelvic infections and tumours, patients with past pelvic trauma and those who had previous pelvic surgery were excluded from the study. In total 200 hemi-pelvises were evaluated for the presence or absence of corona morti. RESULTS: Overall, we included 100 patients in this series including 67 men and 33 women with mean age of 40.1±2.3 (ranging from 22-74) years. The arterial variant was identified on thin, 0.625-mm-thick images in 24 out of 100 patients studied (unilateral in 20 patients and bilateral in 4 patients; 28 out of 200 hemipelvises evaluated, having an incidence of 14%). We found that the distance of corona mortis artery from the symphysis was significantly greater for women compared to men, both on right (p=0.034) and left sides (p=0.046). CONCLUSION: Corona mortis may be prospectively identified at contrast-enhanced multidetector CT especially in pelvic trauma patients and help guide subsequent endovascular embolization or surgical interventions.

Refinery evaluation of optical imaging to locate fugitive emissions.

Fugitive emissions account for approximately 50% of total hydrocarbon emissions from process plants. Federal and state regulations aiming at controlling these emissions require refineries and petrochemical plants in the United States to implement a Leak Detection and Repair Program (LDAR). The current regulatory work practice, U.S. Environment Protection Agency Method 21, requires designated components to be monitored individually at regular intervals. The annual costs of these LDAR programs in a typical refinery can exceed US$1,000,000. Previous studies have shown that a majority of controllable fugitive emissions come from a very small fraction of components. The Smart LDAR program aims to find cost-effective methods to monitor and reduce emissions from these large leakers. Optical gas imaging has been identified as one such technology that can help achieve this objective. This paper discusses a refinery evaluation of an instrument based on backscatter absorption gas imaging technology. This portable camera allows an operator to scan components more quickly and image gas leaks in real time. During the evaluation, the instrument was able to identify leaking components that were the source of 97% of the total mass emissions from leaks detected. More than 27,000 components were monitored. This was achieved in far less time than it would have taken using Method 21. In addition, the instrument was able to find leaks from components that are not required to be monitored by the current LDAR regulations. The technology principles and the parameters that affect instrument performance are also discussed in the paper.

Langer's mesomelic dysplasia: a case report.

Langer's mesomelic dysplasia is a rare cause of disproportionate dwarfism. The affected children have a normal intellect and life span and are usually seen later in life for management of skeletal deformities. The diagnosis is usually established on clinical and anthropometric analyses supported with relevant radiological investigations. Plain radiographs and full-length scanograms are sufficient in establishing the diagnosis. Further genetic studies are sometimes performed for confirmation, as Leri Weill dyschondrosteosis and Langer's mesomelic dysplasia are inherited because of mutations in the short stature homeobox (SHOX) gene. The literature is sparse with less than a hundred cases reported, and this case adds to the available data on this rare syndrome.