Whole exome sequencing in Serbian patients with hereditary spastic paraplegia.

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with a high genetic and clinical heterogeneity. Numerous HSP patients remain genetically undiagnosed despite screening for known genetic causes of HSP. Therefore, identification of novel variants and genes is needed. Our previous study analyzed 74 adult Serbian HSP patients from 65 families using panel of the 13 most common HSP genes in combination with a copy number variation analysis. Conclusive genetic findings were established in 23 patients from 19 families (29%). In the present study, nine patients from nine families previously negative on the HSP gene panel were selected for the whole exome sequencing (WES). Further, 44 newly diagnosed adult HSP patients from 44 families were sent to WES directly, since many studies showed WES may be used as the first step in HSP diagnosis. WES analysis of cohort 1 revealed a likely genetic cause in five (56%) of nine HSP families, including variants in the ETHE1, ZFYVE26, RNF170, CAPN1, and WASHC5 genes. In cohort 2, possible causative variants were found in seven (16%) of 44 patients (later updated to 27% when other diagnosis were excluded), comprising six different genes: SPAST, SPG11, WASCH5, KIF1A, KIF5A, and ABCD1. These results expand the genetic spectrum of HSP patients in Serbia and the region with implications for molecular genetic diagnosis and future causative therapies. Wide HSP panel can be the first step in diagnosis, alongside with the copy number variation (CNV) analysis, while WES should be performed after.

TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.

Primary congenital glaucoma (PCG) is one of the leading causes of visual damage and blindness, severely affecting the quality of life of affected children. It is characterized by cupping of the optic disc and loss of ganglion cells due to elevated intraocular pressure. While most PCG patients exhibit epiphora, photophobia, and buphthalmos with corneal opacity, variability in phenotypic manifestations is not uncommon. Prompt diagnosis and treatment of PCG affected individuals becomes relevant to preserve visual function throughout their lives. Most PCG cases are sporadic or autosomal recessive; however, an incompletely dominant autosomal dominant form arising from mutations in the TEK gene has recently been demonstrated. Here, we describe the clinical and mutational features of a cohort of Mexican patients with TEK-related PCG. Our results support the involvement of the TEK gene as an important cause of the disease in our ethnic group and expand the mutational spectrum causing PCG by reporting 10 novel disease-causing variants.

Neurosarcoidosis involving cervical nerve root with unusual MRI findings: a case report and systematic literature review.

BACKGROUND: Neurosarcoidosis is rare, and among its manifestations, nerve root involvement has been reported in only a few cases. Therefore, magnetic resonance imaging (MRI) findings of neurosarcoidosis, particularly those involving nerve roots, are scarce in the literature. METHODS: We presented the case of neurosarcoidosis involving cervical nerve roots and cranial nerves, alongside a systematic literature review. RESULTS: A 28-year-old female suddenly developed right facial numbness as well as left upper extremity and left hand pain. Initial brain and spine MRI showed a bulging mass of T2 iso-to-high signal intensity in the left Meckel's cave/trigeminal nerve, as well as diffuse enlargement of the right C6 and C7 nerve roots. Follow-up MRI at 2 months revealed a reduction in the size of the initial lesion and the appearance of new similar lesions on the contralateral side (right Meckel's cave, left C3-C8 nerve roots). In particular, the lesions involving the nerve roots demonstrated central enlargement along the nerve roots, without involvement of the adjacent spinal cord. All these lesions exhibited enhancement, leading to the differentiation between sarcoidosis and lymphoma. Sarcoidosis was subsequently confirmed through biopsy of a hilar lymph node. CONCLUSIONS: This report presents a distinctive MRI feature of neurosarcoidosis involving spinal nerve roots, representing the first of its kind, and describes the evolution of MRI findings throughout the clinical course.

Coronal plane in opportunistic screening of osteoporosis using computed tomography: comparison with axial and sagittal planes.

OBJECTIVE: To compare the coronal plane with axial and sagittal planes in opportunistic screening of osteoporosis using computed tomography (CT). MATERIALS AND METHODS: A total of 100 patients aged ≥ 50 years who underwent both lumbar spine CT and dual-energy X-ray absorptiometry within 3 months were included. Osteoporosis was diagnosed based on dual-energy X-ray absorptiometry results. The CT number was measured at the center of the vertebral body in coronal, axial, and sagittal planes. To compare the coronal plane with axial and sagittal planes in diagnosing osteoporosis, the areas under the receiver operating characteristic curve (AUC) were compared and intraclass correlation coefficient (ICC) was calculated. The optimal cutoff values were calculated using Youden's index. RESULTS: The AUC of the coronal plane (0.80; 95% confidence interval [CI], 0.71-0.89) was not significantly different from that of the axial plane (0.78; 95% CI, 0.68-0.87; P = 0.39) and that of the sagittal plane (0.78; 95% CI, 0.69-0.87; P = 0.68). Excellent concordance rates were observed between coronal and axial planes with ICC of 0.95 (95% CI, 0.92-0.96) and between coronal and sagittal planes with ICC of 0.93 (95% CI, 0.85-0.96). The optimal cutoff values for the coronal, axial, and sagittal planes were 110, 112, and 112 HU, respectively. CONCLUSION: The coronal plane does not significantly differ from axial and sagittal planes in opportunistic screening of osteoporosis. Thus, the coronal plane as well as axial and sagittal planes can be used interchangeably in measuring bone mineral density using CT.

Assessing visibility and bone changes of spinal metastases in CT scans: a comprehensive analysis across diverse cancer types.

OBJECTIVES: To analyze the characteristics of spinal metastasis in CT scans across diverse cancers for effective diagnosis and treatment, using MRI as the gold standard. METHODS: A retrospective study of 309 patients from four centers, who underwent concurrent CT and spinal MRI, revealing spinal metastasis, was conducted. Data on metastasis including total number, volume, visibility on CT (visible, indeterminate, or invisible), and type of bone change were collected. Through chi-square and Mann-Whitney U tests, we characterized the metastasis across diverse cancers and investigated the variation in the intra-individual ratio representing the percentage of lesions within each category for each patient. RESULTS: Out of 3333 spinal metastases from 309 patients, 55% were visible, 21% indeterminate, and 24% invisible. Sclerotic and lytic lesions made up 47% and 43% of the visible and indeterminate categories, respectively. Renal cell carcinoma (RCC), prostate cancer, and hepatocellular carcinoma (HCC) had the highest visibility at 86%, 73%, and 67% (p < 0.0001, p < 0.0001, and p = 0.003), while pancreatic cancer was lowest at 29% (p < 0.0001). RCC and HCC had significantly high lytic metastasis ratios (interquartile range (IQR) 0.96-1.0 and 0.31-1.0, p < 0.001 and p = 0.005). Prostate cancer exhibited a high sclerotic lesion ratio (IQR 0.52-0.97, p < 0.001). About 39% of individuals had invisible or indeterminate lesions, even with a single visible lesion on CT. The intra-individual ratio for indeterminate and invisible metastases surpassed 18%, regardless of the maximal size of the visible metastasis. CONCLUSIONS: This study highlights the variability in characteristics of spinal metastasis based on the primary cancer type through unique lesion-centric analysis.

The Impact of COVID-19 and Exposure to Violent Media Content on Cyber Violence Victimization Among Adolescents in South Korea: National Population-Based Study.

BACKGROUND: Because of the COVID-19 pandemic and consequent stay-at-home mandates, adolescents faced isolation and a decline in mental health. With increased online activity during this period, concerns arose regarding exposure to violent media content and cyber victimization among adolescents. Yet, the precise influence of pandemic-related measures on experiences of cyber violence remains unclear. Hence, it is pertinent to investigate whether the pandemic altered the dynamics of cyber violence victimization for individuals. OBJECTIVE: This study aims to investigate the effects of COVID-19 and exposure to violent media content on cyber violence victimization among adolescents in South Korea. METHODS: We used national survey data from 2019 (n=4779) and 2020 (n=4958) to investigate the potential impact of COVID-19 on the prevalence of cyber violence among young adolescents. The data encompassed responses from elementary fourth-grade students to senior high school students, probing their exposure to violent media content, average internet use, as well as experiences of victimization and perpetration. RESULTS: The analysis revealed a noteworthy decline in cyber victimization during 2020 compared with 2019 (B=-0.12, t=-3.45, P<.001). Furthermore, being a perpetrator significantly contributed to cyber victimization (B=0.57, t=48.36, P<.001). Additionally, younger adolescents (ß=-.06, t=-6.09, P<.001), those spending more time online (ß=.18, t=13.83, P<.001), and those exposed to violent media (ß=.14, t=13.89, P<.001) were found to be more susceptible to victimization. CONCLUSIONS: Despite the widespread belief that cyber violence among adolescents surged during COVID-19 due to increased online activity, the study findings counter this assumption. Surprisingly, COVID-19 did not exacerbate cyber victimization; rather, it decreased it. Given the strong correlation between cyber victimization and offline victimization, our attention should be directed toward implementing real-life interventions aimed at curbing violence originating from in-person violence at school.

Intra-individual comparison of lumbar spine CT, abdomen-pelvis contrast enhanced CT, and low-dose chest CT for bone density measurement.

BACKGROUND: Dual-energy X-ray absorptiometry (DXA) is the reference standard for the measurement of bone mineral density (BMD) and subsequent diagnosis of osteoporosis. Since various computed tomography (CT) protocols are scanned for various indications, we can incidentally measure BMD using CT. Previous studies have revealed a correlation between BMD and Hounsfield unit (HU) values obtained with different CT protocols. PURPOSE: To compare the diagnostic value of CT protocols (lumbar spine CT [LSCT], abdomen-pelvis contrast-enhanced CT [APCT], and low-dose chest CT [LDCT]) for osteoporosis. MATERIAL AND METHODS: We retrospectively included 17 patients (6 men, 11 women; mean age=68 years) who had undergone all four imaging studies within six months, during 2011-2021. HU values were manually measured at the center of the L1 vertebra by a radiology resident. Pearson correlation test was performed between HU values and BMD of L1 vertebra. The diagnostic performance of each CT protocol was assessed with receiver operating characteristic (ROC) analysis. Intra-individual concordance of the four tests to diagnose osteoporosis was analyzed by tabulating. RESULTS: The mean HU values were 104.4 ± 47.2 HU with LSCT, 149.0 ± 56.9 HU with APCT, and 114.3 ± 60.0 HU with LDCT. HU values from each protocol were positively correlated (r = 0.676-0.735; P < 0.005) with BMD. LDCT had the highest diagnostic performance (area under the ROC curve [AUC] = 0.701) and APCT the lowest (AUC = 0.569). APCT was discordant with the other protocols for diagnosing osteoporosis. CONCLUSION: LDCT had the highest diagnostic performance for osteoporosis with predetermined cutoff value. APCT requires the increase of cutoff value for osteoporosis diagnosis.

Dual-layer spectral detector CT arthrography of the shoulder: assessment of image quality and value in differentiating calcium from iodine.

BACKGROUND: Dual-layer spectral detector computed tomography (DLCT) may potentially improve CT arthrography through enhanced image quality and analysis of the chemical composition of tissue. PURPOSE: To evaluate the image quality of monoenergetic reconstructions from DLCT arthrography of the shoulder and assess the additional diagnostic value in differentiating calcium from iodine. MATERIAL AND METHODS: Images from consecutive shoulder DLCT arthrography examinations performed between December 2016 and February 2018 were retrospectively reviewed for hyperattenuating lesions within the labrum and tendons. The mean attenuation of the target lesion, noise, contrast-to-noise ratio (CNR), and signal-to-noise ratio (SNR) of the virtual monoenergetic images obtained at 40-200 keV were compared with conventional 140-kVp images. Two evaluators independently classified each target lesion as contrast media or calcification, without and with DLCT spectral data. Receiver operating curve (ROC) analysis was performed to assess the diagnostic performance of shoulder DLCT arthrography, without and with the aid of spectral data. RESULTS: The study included 20 target lesions (18 DLCT arthrography examinations of 17 patients). The SNRs of the monoenergetic images at 40-60 keV were significantly higher than those of conventional images (P < 0.05). The CNRs of the monoenergetic images at 40-70 keV were significantly higher than those of conventional images (P < 0.001). The ability to differentiate calcium from iodine, without and with DLCT spectral data, did not significantly differ (P = 0.441 and P = 0.257 for reviewers 1 and 2, respectively). CONCLUSION: DLCT had no additive value in differentiating calcium from iodine in small, hyperattenuating lesions in the labrum and tendons.

Interlaminar versus transforaminal epidural steroid injections: a review of efficacy and safety.

Spine intervention is an important treatment option for the management of spinal pain, and the numbers of the most representative epidural steroid injection (ESI) procedures performed are expected to increase significantly in the future along with increased life expectancy and the increasing prevalence of spinal disorders. Therefore, it is important to understand the efficacy of ESIs according to each spinal disorder they are administered to treat, and one must be familiar with the possible complications. In fact, although numerous ESI-related articles have been published, there is still considerable controversy regarding the efficacy of ESI procedures. Furthermore, due to the rarity of serious complications, most instances have been recorded in the form of case reports. In this article, we aimed to review the indications of cervical and lumbar ESIs and to compare interlaminar ESI (ILESI) and transforaminal ESI (TFESI) techniques in terms of analgesic efficacy, possible complications, and safety profiles. This article includes opinions based on the authors' experience with ESI indications and efficacy, and presents practical tips for coping with specific situations related to each complication. By combining the dedicated anatomical understanding of radiologists with image-guided interventions, ESI is expected to stand out in the rapidly expanding field of spine intervention.

Costs of abdominal aortic aneurysm care at a regional Veterans Affairs medical center with the implementation of an abdominal aortic aneurysm screening program.

BACKGROUND: Abdominal aortic aneurysm (AAA) screening has demonstrated to be cost-effective in reducing AAA-related morbidity and all-cause mortality. However, the downstream care costs of an implemented AAA screening in clinical practice have not been reported. The purpose of this study is to determine direct regional Department of Veterans Affairs (VA) costs in implementing and sustaining an AAA screening program over a 10-year period. METHODS: A cost data analysis (adjusted to 2021 U.S. dollars) of an AAA screening program was conducted from 2007 to 2016, where 19,649 veteran patients aged 65-75 with a smoking history were screened at a regional VA medical center. A decision support system tracked direct and indirect encounter costs from Medicare billing codes associated with AAA care. Costs from a patient's initial screening, follow-up imaging, to AAA repair or at the end of the analysis period, March 31, 2021, were recorded. Costs for AAA repairs outside the VA system were also tracked. RESULTS: A total of 1,183 patients screened were identified with an AAA ≥3.0 cm without history of repair. Estimated screening costs were $2.8 million or $280,000 annually ($143/screening) in the care of 19,649 screened patients. There were 221 patients who required repair (143 repairs in VA, 78 repairs outside VA). The average cost of elective endovascular repair was $43,021 and that of open repair was $49,871. The total costs for all elective repairs were $9,692,591. Screening, implementation, maintenance, and surgical repair cost involved in the management of patients with AAA disease was $13.7 million, with $10,686 per life-year lived after repair (5.8 ± 3.5 mean life-years) and $490 per life-year lived after screening (6.9 ± 3.5 mean life-years) for all patients screened. There were 13 deaths of unknown causes and one patient with a ruptured AAA that required emergency repair at a cost of $124,392. CONCLUSIONS: Despite known limitations, the implementation of an AAA ultrasound screening program is feasible, cost-effective, and a worthwhile endeavor.

Undiagnosed disease program in South Africa: Results from first 100 exomes.

The Undiagnosed Disease Program in South Africa (UDP) sought to prospectively evaluate the clinical utility of exome sequencing (ES) in a phenotypically diverse, multi-ethnic cohort of South African patients with suspected rare genetic disorders. ES was undertaken in 100 sequential patients (93 singletons, 3 duos, and 4 trios) recruited to the UDP at Stellenbosch University. The data were analyzed through two separate bioinformatics pipelines (EVIDENCE from 3 billion and our in-house pipeline). A definitive diagnosis could be reached in 51% (51/100) patients, with 46% (46/100) patients having either pathogenic or likely pathogenic single-nucleotide variants/indels (SNVs/indels), and 5 patients with likely-pathogenic copy number variants (CNVs) (5/100). The CNVs were subsequently confirmed on microarray or MLPA analysis. Detailed phenotyping and HPO terms enabled analysis and variant identification. Twenty-five novel variants in 22 genes are reported here. We provide data from the first year of this UDP and show that even amongst mainly singletons from an understudied, diverse African population, ES is a valuable diagnostic tool, especially if it includes CNV analysis. The remaining undiagnosed patients present a unique opportunity for further research and novel gene discovery.

Effectiveness of epidural steroid injection in patients with lumbar herniated intervertebral disc under a "wait-and-see" policy.

BACKGROUND: There are no consensus and guidelines on the optimal interval of repeat epidural steroid injections (ESI) for patients with lumbar herniated intervertebral disc (HIVD) who respond to initial ESI. PURPOSE: To evaluate the effectiveness of ESI in patients with HIVD under a "wait-and-see" policy, i.e. as-needed injections not on a predetermined schedule. MATERIAL AND METHODS: A total of 592 patients with lumbar HIVD received spine injections between January and December 2017. After excluding patients with excellent (no pain) or poor (>70% residual symptoms) response in the two- or three-week pain assessment, the data of 141 responders were analyzed (60 men, 73 women; age = 50.55±17.25 years). We divided patients into wait-and-see (n=124) and early repeat-ESI (n=17) groups, who received repeat ESIs within three weeks. Evaluations of characteristics and outcomes were performed with the chi-square test or independent Student's t-test. RESULTS: Six patients (4.8%) in the wait-and-see group and 1 (5.9%) in the early repeat-ESI group underwent operation within one year (P=0.85). A mean of 1.52±0.82 ESIs was performed in the wait-and-see and a mean of 2.29±0.47 ESIs in the early repeat-ESI group over one year (P<0.001). The time interval between the first and second ESIs was longer in the wait-and-see group than in the early repeat-ESI group (97.15 vs. 15.47 days, P<0.001). Seventy-eight patients (62.9%) in the wait-and-see group could control their pain with a single ESI. CONCLUSION: A "wait-and-see" policy could be an effective pain management option for patients with lumbar HIVD who respond to initial ESI.

Clinician based decision tool to guide recommended interval between colonoscopies: development and evaluation pilot study.

BACKGROUND: Optimal intervals between repeat colonoscopies could improve patient outcomes and reduce costs. We evaluated: (a) concordance between clinician and guideline recommended colonoscopy screening intervals in Winnipeg, Manitoba, (b) clinician opinions about the utility of an electronic decision-making tool to aid in recommending screening intervals, and (c) the initial use of a decision-making smartphone/web-based application. METHODS: Clinician endoscopists and primary care providers participated in four focus groups (N = 22). We asked participating clinicians to evaluate up to 12 hypothetical scenarios and compared their recommended screening interval to those of North American guidelines. Fisher's exact tests were used to assess differences in agreement with guidelines. We developed a decision-making tool and evaluated it via a pilot study with 6 endoscopists. RESULT: 53% of clinicians made recommendations that agreed with guidelines in ≤ 50% of the hypothetical scenarios. Themes from focus groups included barriers to using a decision-making tool: extra time to use it, less confidence in the results of the tool over their own judgement, and having access to the information required by the tool (e.g., family history). Most were willing to try a tool if it was quick and easy to use. Endoscopists participating in the tool pilot study recommended screening intervals discordant with guidelines 35% of the time. When their recommendation differed from that of the tool, they usually endorsed their own over the guideline. CONCLUSIONS: Endoscopists are overconfident and inconsistent with applying guidelines in their polyp surveillance interval recommendations. Use of a decision tool may improve knowledge and application of guidelines. A change in practice may require that the tool be coupled with continuing education about evidence for improved outcomes if guidelines are followed.

Yoga as an adjunct activity for medical students learning anatomy.

BACKGROUND: Medical students experience high levels of stress during training due to demanding course loads which often leaves less time for self-care. This study combines the self-care technique of yoga with learning anatomical locations, innervations, actions, and functions of the muscles and organs to determine if anatomy tests scores are improved and whether students' stress levels attenuate from participating in yoga. METHODS: In this randomized controlled study, 64 student volunteers were randomized into either a yoga intervention group or wait list control group throughout the M1 anatomy course. The yoga group (n = 32) participated in 8 yoga sessions synced with the anatomy topics they were learning in lecture. The wait list group (n = 32) went through their normal anatomy curriculum but had an option to participate in the same yoga sessions after the anatomy course. The primary research purpose was to determine whether yoga improved anatomy exam performance by comparing four anatomy exam scores between the two groups. The secondary research purposes included the following: to determine whether yoga classes including anatomy teaching still conferred acute and long-lasting stress relief by, respectively, comparing a students' own pre- and post-yoga stress level and self-perceived stress levels between the two groups; and to determine if a student's confidence in anatomy was improved after a yoga session. RESULTS: There was no significant difference in anatomy exam performance between students who received yoga and those on the waitlist (all p > 0.05). For students who received yoga, their average self-reported stress levels decreased after each yoga session, their average DASS (Depression, Anxiety and Stress Scale) score decreased after a yoga session, but they were not significantly less stressed than their waitlist peers prior to an exam, and their self-reported confidence in anatomy material related to the back, upper extremity, head and neck, and abdomen/pelvis increased. CONCLUSION: With this sample, there was no evidence that yoga sessions paired with anatomy lecture material improved overall anatomy exam performance, as opposed to only the musculoskeletal portion which other studies have looked at. However, yoga acutely reduced stress levels, and subjective feelings of knowledge improvement were noted by participants. Both of these can provide benefits to medical students.

Lipotoxicity dysregulates the immunoproteasome in podocytes and kidneys in type 2 diabetes.

Palmitic acid (PA) leads to lipotoxicity in type 2 diabetes and induces oxidative stress in podocytes. Oxidized cellular proteins are degraded by proteasomes. The role of proteasomes in PA- or oxidative stress-induced podocyte injury and pathogenesis of diabetic nephropathy (DN) is unknown. We investigated the effects of PA on expression of 20S and 26S proteasomes, proteasome activator 28 (PA28) regulators, and the immunoproteasome in cultured podocytes and renal cortical tissues of db/db and db/m mice using Western blot analysis. Glomerular areas and glomerular basement membrane (GBM) widths of db/db and db/m mice were examined using morphometry. Short-term incubation of PA or low levels of H2O2 upregulated only the immunoproteasome in cultured podocytes. Long-term exposure of podocytes to PA ultimately downregulated the immunoproteasome as with other proteasomes, whereas oleic acid (OA) or eicosapentaenoic acid (EPA) restored the PA-induced decreased protein levels. In db/db mice, renal cortical immunoproteasome expression with PA28α was significantly decreased compared with db/m mice, and glomerular areas and GBM widths were significantly increased compared with db/m mice. Feeding of an OA-rich olive oil or EPA-rich fish oil protected db/db mice against the reduced renal cortical immunoproteasome expression, glomerular enlargement, and GBM thickening. These results demonstrate that lipotoxicity downregulates the immunoproteasome in podocytes and kidneys in type 2 diabetes and that OA and EPA protected type 2 diabetic mice against decreased renal cortical immunoproteasome expression and the progression of DN. Given this, lipotoxicity-induced podocyte injury with impaired immunoproteasome expression appears to play an important role in the pathogenesis of DN.NEW & NOTEWORTHY In podocytes, PA rapidly induced immunoproteasome expression but ultimately decreased it, while OA and EPA restored the decreased immunoproteasome levels. In the renal cortex of type 2 diabetic mice, immunoproteasome expression was significantly decreased, whereas feeding of OA-rich olive oil or EPA-rich fish oil diets protected them against the reduced immunoproteasome expression and progression of diabetic nephropathy. Thus, lipotoxicity-induced podocyte injury with impaired immunoproteasome expression may be related to the pathogenesis of diabetic nephropathy.

Feasibility of a Weight Management Program Tailored for Overweight Men with Localized Prostate Cancer - A Pilot Study.

BACKGROUND: Overweight men with prostate cancer are more likely to suffer from recurrence and death following prostatectomy compared with healthy weight men. This study tested the feasibility of delivering a comprehensive program to foster weight loss before and weight maintenance after surgery in overweight men with localized prostate cancer. METHODS: Twenty overweight men scheduled for prostatectomy elected either the intervention (n = 15) or the nonintervention (n = 5). Anthropometrics, biomarkers, diet quality, nutrition literacy, quality of life, and long-term follow-up were assessed in both groups. RESULTS: The intervention led to 5.55 kg of weight loss including 3.88 kg of fat loss from baseline to surgery (mean = 8.3 weeks). The intervention significantly increased fiber, protein, fruit, nut, and vegetable intake; and decreased trans fats intake during weight loss. The intervention significantly reduced insulin, C-peptide, systolic blood pressure, leptin:adiponectin ratio, and visceral adiposity compared to the nonintervention. Post-surgically, weight loss was maintained. Changes in lipid profiles, nutrition literacy, and follow-up were not statistically significant in either group. CONCLUSION: Significant weight loss (≥5%) is feasible with a coaching intervention in overweight men preparing for prostatectomy and is associated with favorable cardiometabolic effects. This study is registered under NCT02252484 (www.clinicaltrials.gov).

The extracellular matrix molecules versican and hyaluronan in urethral and vaginal tissues in stress urinary incontinence.

PURPOSE: Abnormal extracellular matrix (ECM) changes are correlated with stress urinary incontinence (SUI). The ECM components versican (Vcan) and hyaluronan (HA) play key roles in regulating tissue inflammation and maintaining connective tissue homeostasis. We analyzed the localization and expression of these ECM components in urethral and vaginal tissues from a rat model of urinary incontinence and from human clinical specimens. METHODS: Nulliparous rats underwent vaginal distension (VD), a rodent model of SUI, or a sham procedure. Tissues were harvested from six rats per group at days 1, 4, and 21 for immunohistochemistry and RNA expression analysis of ECM components. Periurethral vaginal samples from female patients with SUI were also examined. RESULTS: High-intensity staining for Vcan was observed 1 day after procedure in both control and VD animals. This level of abundance persisted at day 4 in VD compared to control, with concurrent reduced messenger RNA (mRNA) expression of the Vcan-degrading enzymes ADAMTS5 and ADAMTS9 and reduced staining for the Vcan cleavage epitope DPEAAE. Abundance of HA was not different between VD and control, however mRNA expression of the HA synthase Has2 was significantly reduced in VD tissues at day 4. Abundant Vcan staining was observed in 60% of SUI patient samples, which was strongest in regions of disrupted elastin. CONCLUSION: Reduction of Vcan-degrading enzymes and HA synthases at day 4 postsurgery indicates a potential delay in ECM turnover associated with SUI. Abundant Vcan is associated with inflammation and elastin fiber network disruption, warranting further investigation to determine its role in SUI pathogenesis.

Predicting the clinically significant subscapularis tendon tear: malposition and tear of the long head of the biceps tendon on shoulder magnetic resonance imaging.

BACKGROUND: The diagnostic accuracy of magnetic resonance imaging (MRI) is low for detecting a subscapularis tendon tear. PURPOSE: To identify MRI findings that may predict the presence of a clinically significant subscapularis tendon tear requiring surgical repair. MATERIAL AND METHODS: We reviewed shoulder MR images of patients who had undergone arthroscopic rotator cuff repair at our institution between June 2018 and May 2019. Patients were divided into two groups: the study group (n = 51), with an intermediate- to high-grade partial thickness tear of the subscapularis tendon suspected on preoperative MRI and intermediate or higher grade of the tendon tear proven on arthroscopy; and the control group (n = 18), with an intermediate- to high-grade partial thickness tear of the subscapularis tendon suspected on preoperative MRI but no tear or low-grade partial thickness tear of the tendon shown on arthroscopy. Preoperative MR images were retrospectively evaluated by two readers for the size of the subscapularis tendon tear, bone reactions at the lesser tuberosity, and long head of the biceps tendon (LHBT) pathology. RESULTS: The subscapularis tendon tear measured by reader 2 was larger in the study group than in the control group. The prevalence of a tear (P = 0.006 for reader 1; P = 0.011 for reader 2) and malposition (P < 0.001 for both readers) of the LHBT were significantly greater in the study group. CONCLUSION: A tear and malposition of the LHBT on MR images may predict the presence of a clinically significant subscapularis tendon tear.

Subscapularis (SSC) tendon tears: diagnostic performance and reliability of magnetic resonance arthrography (MRA) with arthroscopic correlation and comparison with clinical tests.

OBJECTIVE: To evaluate the diagnostic performance and reliability of magnetic resonance of arthrography (MRA) in diagnosis of subscapularis (SSC) tendon tears between two reviewers with varying levels of experience, and compare the results with clinical tests. MATERIALS AND METHODS: SSC tendons were retrospectively evaluated in a total of 272 patients with arthroscopic confirmations. A total of 548 shoulder MRAs were evaluated by two musculoskeletal radiologists, and SSC tendon pathologies were classified into three groups: intact tendon (n = 149), partial-thickness tear (n = 92), or full-thickness tear (n = 31). Diagnostic performance was determined using arthroscopy as gold standard and compared with results of four clinical tests. Intra- and inter-observer reliabilities of two reviewers were evaluated using kappa statistics. RESULTS: For full-thickness tears, mean values of sensitivity, specificity, and accuracy of reviewer 1/reviewer 2 were 71.0%/87.1%, 97.3%/98.3%, and 94.4%/95.5%, respectively. For partial-thickness tears, mean values of sensitivity, specificity, and accuracy were 72.8%/73.4%, 78.3%/81.2%, and 76.5%/78.5%, respectively. Intra- and inter-observer reliabilities for both reviewers were good to very good (k = 0.85/0.93, p < 0.001; k = 0.74-0.89, p < 0.001). For all clinical tests, while specificity was very high, sensitivity was very low and the overall accuracy was also low. CONCLUSION: MRA showed high diagnostic performance for the diagnosis of SSC tendon tears, especially full-thickness tears, with good inter- and intra-observer reliabilities, regardless of the level of experience of the reviewer.

Factors associated with utilization of neoadjuvant chemotherapy in charlson comorbidity zero non-metastatic muscle-invasive bladder cancer patients.

BACKGROUND: Guideline-based best practice treatment for muscle invasive bladder cancer (MIBC) involves neoadjuvant chemotherapy followed by radical cystectomy (NACRC). Prior studies have shown that a minority of patients receive NACRC and older age and renal function are drivers of non-receipt of NACRC. This study investigates treatment rates and factors associated with not receiving NACRC in MIBC patients with lower comorbidity status most likely to be candidates for NACRC. MATERIALS AND METHODS: Retrospective United States National Cancer Database analysis from 2006 to 2015 of MIBC patients with Charlson comorbidity index (CCI) of zero. Analysis of NACRC treatment trends in higher CCI patients was also performed. RESULTS: 15.561 MIBC patients met inclusion criteria. 1.507 (9.7%) received NACRC within 9 months of diagnosis. NACRC increased over time (15.0% in 2015 compared to 3.6% in 2006). Higher NACRC was noted in females, cT3 or cT4 cancer, later year of diagnosis, and academic facility treatment. Lower utilization was noted for blacks and NACRC decreased with increasing age and CCI. Only 16.9% of patients aged 23-62 in the lowest age quartile with muscle invasive bladder cancer and CCI of 0 received NACRC. CONCLUSIONS: Although utilization is increasing, receipt of NACRC remains low even in populations most likely to be candidates. Further study should continue to elucidate barriers to utilization of NACRC.