Citations

Objective: To examine the distribution of clinic and operative pathology in a tertiary care laryngology practice. Methods: Probability density and cumulative distribution analyses (Pareto analysis) was used to rank order laryngeal conditions seen in an outpatient tertiary care laryngology practice and those requiring surgical intervention during a 3-year period. Results: Among 3783 new clinic consultations and 1380 operative procedures, voice disorders were the most common primary diagnostic category seen in clinic (n = 3223), followed by airway (n = 374) and swallowing (n = 186) disorders. Within the voice strata, the most common primary ICD-9 code used was dysphonia (41%), followed by unilateral vocal fold paralysis (UVFP) (9%) and cough (7%). Among new voice patients, 45% were found to have a structural abnormality. The most common surgical indications were laryngotracheal stenosis (37%), followed by recurrent respiratory papillomatosis (18%) and UVFP (17%). Conclusions: Nearly 55% of patients presenting to a tertiary referral laryngology practice did not have an identifiable structural abnormality in the larynx on direct or indirect examination. The distribution of ICD-9 codes requiring surgical intervention was disparate from that seen in clinic. Application of the Pareto principle may improve resource allocation in laryngology, but these initial results require confirmation across multiple institutions.

Background: Multi-ligament knee injury (MLKI) associated with knee dislocation can result in vascular injury. The purpose of this study was to compare knee function after MLKI between patients with a vascular injury requiring popliteal artery bypass grafting and patients without vascular involvement. Additionally, factors associated with poor knee function in patients who had MLKI with vascular injury were evaluated. Methods: This retrospective study identified patients with an MLKI between 1992 and 2014. Each patient who had a concomitant vascular injury requiring bypass grafting (vascular cohort, n = 16; mean age, 30.3 years) was matched to 2 patients without a vascular injury (control cohort, n = 32; mean age, 31.4 years) on the basis of age, knee dislocation (KD) grade, and peroneal nerve status. Fifteen patients in the vascular cohort and 26 patients in the control cohort had an isolated knee injury. Functional outcomes were assessed with physical examination of range of motion and ligamentous stability as well as patient-reported outcome scores. Results: The vascular cohort had a mean Lysholm score of 62.5 points (range, 16 to 100 points) and a mean International Knee Documentation Committee (IKDC) score of 59.7 points (range, 14.9 to 100 points) at a mean (and standard deviation) of 8.3 ± 5.0 years after surgery. The control cohort had a mean Lysholm score of 86.4 points (range, 51.0 to 100.0 points) and a mean IKDC score of 83.8 points (range, 35.6 to 100.0 points) at a mean of 6.0 ± 4.0 years. The vascular cohort had significantly lower Lysholm (p = 0.001) and IKDC (p = 0.002) scores than the control cohort. A body mass index (BMI) of >30 kg/m 2 was predictive of lower IKDC (p = 0.0009) and Lysholm (p = 0.0008) scores. Conclusions: Patients who sustain an MLKI with an associated popliteal artery injury requiring bypass grafting have significantly lower knee function scores than patients without vascular involvement. This information can be used to help counsel patients with combined multiple ligament and popliteal artery injuries. Level of Evidence: Therapeutic Level III . See Instructions for Authors for a complete description of levels of evidence.

Purpose The relationship between syringomyelia and presyrinx, characterized by edema in the spinal cord, has not been firmly established. Patients with syringomyelia have abnormal spinal canal tapering that alters cerebrospinal fluid flow dynamics, but taper ratios in presyrinx have never been reported. We tested the hypothesis that presyrinx patients have abnormal spinal canal tapering. Materials and methods At six medical institutions, investigators searched the PACS system for patients with Chiari I and spinal cord edema unassociated with tumor, trauma, or other evident cause. In each case taper ratios were calculated for C1 to C4 and C4 to C7. In two age- and gender-matched control groups, Chiari I patients with no syringomyelia and patients with normal MR scans, the same measurements were made. Differences between groups were tested for statistical significance with t tests. Results The study enrolled 21 presyrinx patients and equal numbers of matched Chiari I and normal controls. C4 to C7 taper ratios were positive and steeper in presyrinx patients than in the normal controls ( p = 0.04). The upper cervical spine, C1 to C4, tapered negatively in cases and controls without significant differences between the groups. The difference in degree of tonsillar herniation was statistically significant between presyrinx patients and Chiari I controls ( p = 0.01). Conclusions Presyrinx patients have greater than normal positive tapering in the lower cervical spine and greater degree of tonsillar herniation than the controls.

We previously reported an extremely rare case of follicular dendritic cell sarcoma (FDCS) presented as a thyroid mass. Given the rarity of this disease, there are no personalized and molecularly targeted treatment options due to the lack of knowledge in the genomic makeup of the tumor. A 44-year-old white woman was diagnosed with an extranodal FDCS in thyroid. The patient underwent a total thyroidectomy, central compartment dissection, parathyroid re-implantation, and adjuvant radiation therapy. Tumor DNA sequencing of 236 genes by FoundationOne panel found truncating mutations in PTEN and missense mutations in RET and TP53. However, patient-matched germline DNA was not sequenced which is critical for identification of true somatic mutations. Furthermore, the FoundationOne panel doesn't measure genomic rearrangements which have been shown to be abundant in sarcomas and are associated with sarcoma tumorigenesis and progression. In the current study, we carried out comprehensive genomic sequencing of the tumor, adjacent normal tissues, and patient-matched blood, in an effort to understand the genomic makeup of this rare extranodal FDCS and to identify potential therapeutic targets. Eighty-one somatic point mutations were identified in tumor but not in adjacent normal tissues or blood. A clonal truncating mutation in the CLTCL1 gene, which stabilizes the mitotic spindle, was likely a driver mutation of tumorigenesis and could explain the extensive copy number aberrations (CNAs) and genomic rearrangements in the tumor including a chr15/chr17 local chromothripsis resulted in 6 expressed fusion genes. The fusion gene HDGFRP3→SHC4 led to a 200-fold increase in the expression of oncogene SHC4 which is a potential target of the commercial drug Dasatinib. Missense mutations in ATM and splice-site mutation in VEGFR1 were also detected in addition to the TP53 missense mutation reported by FoundationOne.

BackgroundThere is lack of evidence of the impact of varying season on heart failure (HF) hospitalization outcomes in the U.S.HypothesisHF hospitalization outcomes exhibit significant seasonal variation in the U.S.MethodsUsing data from the National Inpatient Sample (2011‐2013), seasonal variation was classified based on meteorological classification of Northern Hemisphere–Spring, Summer, Fall, & Winter–and analysis was conducted via multivariable‐adjusted mixed‐effect model.ResultsAn estimated 2.8 million adults were hospitalized for HF in the U.S. from 2011 to 2013. Of all hospitalizations, admissions were highest in Winter (27%), followed by Spring (26%), Fall (24%), and Summer (23%). The overall mortality rate was 3.1%. Compared with Spring, there was significantly lower mortality in Summer (odds ratio [OR]: 0.95, 95% CI: 0.91‐0.99) and Fall (OR: 0.94, 95% CI: 0.89‐0.98), but the highest mortality was in Winter (OR: 1.06, 95% CI: 1.02‐1.11). In addition, mean length of stay and median cost of hospitalization were highest in Winter (5.3 days, USD7459, respectively) and lowest in Summer (5.1 days, USD7181, respectively). However, age and sex differences existed (e.g. seasonal variation in inpatient mortality was only significant for patients age ≥65 years, and, comparedwith the Spring season, males had higher risk of inpatient mortality in Winter (OR: 1.10, 95% CI: 1.04‐1.17) and females had lower risk of inpatient mortality in Summer (OR: 0.94, 95% CI: 0.88‐1.00) and Fall (OR: 0.92, 95% CI: 0.87‐0.98).ConclusionsAmong HF patients in the U.S., hospitalization outcomes were worse in Winter but better in Summer.

The purpose was to determine if smartphone photography is a reliable tool in measuring wrist movement. Smartphones were used to take digital photos of both wrists in 32 normal participants (64 wrists) at extremes of wrist motion. The smartphone measurements were compared with clinical goniometry measurements. There was a very high correlation between the clinical goniometry and smartphone measurements, as the concordance coefficients were high for radial deviation, ulnar deviation, wrist extension and wrist flexion. The Pearson coefficients also demonstrated the high precision of the smartphone measurements. The Bland–Altman plots demonstrated 29–31 of 32 smartphone measurements were within the 95% confidence interval of the clinical measurements for all positions of the wrists. There was high reliability between the photography taken by the volunteer and researcher, as well as high inter-observer reliability. Smartphone digital photography is a reliable and accurate tool for measuring wrist range of motion. Level of evidence: II

Abstract Background: Comorbidities can affect survival of ovarian cancer patients by influencing treatment efficacy. However, little evidence exists on the association between individual concurrent comorbidities and prognosis in ovarian cancer patients. Methods: Among patients diagnosed with invasive ovarian carcinoma who participated in 23 studies included in the Ovarian Cancer Association Consortium, we explored associations between histories of endometriosis; asthma; depression; osteoporosis; and autoimmune, gallbladder, kidney, liver, and neurological diseases and overall and progression-free survival. Using Cox proportional hazards regression models adjusted for age at diagnosis, stage of disease, histology, and study site, we estimated pooled HRs and 95% confidence intervals to assess associations between each comorbidity and ovarian cancer outcomes. Results: None of the comorbidities were associated with ovarian cancer outcome in the overall sample nor in strata defined by histologic subtype, weight status, age at diagnosis, or stage of disease (local/regional vs. advanced). Conclusions: Histories of endometriosis; asthma; depression; osteoporosis; and autoimmune, gallbladder, kidney, liver, or neurologic diseases were not associated with ovarian cancer overall or progression-free survival. Impact: These previously diagnosed chronic diseases do not appear to affect ovarian cancer prognosis. Cancer Epidemiol Biomarkers Prev; 26(9); 1470–3. ©2017 AACR.

Gene‐panel sequencing allows comprehensive analysis of multiple genes simultaneously and is now routinely used in clinical mutation testing of high‐risk breast and ovarian cancer patients. However, only BRCA1 and BRCA2 are often analyzed also for large genomic changes. Here, we have analyzed 10 clinically relevant susceptibility genes in 95 breast or ovarian cancer patients with gene‐panel sequencing including also copy number variants (CNV) analysis for genomic changes. We identified 12 different pathogenic BRCA1, BRCA2, TP53, PTEN, CHEK2, or RAD51C mutations in 18 of 95 patients (19%). BRCA1/2 mutations were observed in 8 patients (8.4%) and CHEK2 protein‐truncating mutations in 7 patients (7.4%). In addition, we identified a novel duplication encompassing most of the RAD51C gene. We further genotyped the duplication in breast or ovarian cancer families (n = 1149), in unselected breast (n = 1729) and ovarian cancer cohorts (n = 553), and in population controls (n = 1273). Seven additional duplication carries were observed among cases but none among controls. The duplication associated with ovarian cancer risk (3/590 of all ovarian cancer patients, 0.5%, P = .032 compared with controls) and was found to represent a large fraction of all identified RAD51C mutations in the Finnish population. Our data emphasizes the importance of comprehensive mutation analysis including CNV detection in all the relevant genes.