bluuebunny/crossref_metadata_2025_split huggingface dataset:
Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate
Authors: Velázquez-Aragón José A. , Angel Ariadna González-del , Alcántara-Ortigoza Miguel A. , Reyna-Fabián Miriam E. , Estandia-Ortega Bernardette 
Published: December 2020

Objective: To screen for interferon regulatory factor 6 (IRF6) pathogenic variants in patients clinically diagnosed with nonsyndromic cleft lip palate (NSCL/P) and establish the proportion of misdiagnosed Van der Woude syndrome (VWS) cases, which could have biased previous NSCL/P case–control association studies. Design: Retrospective case series. Setting: Tertiary care children’s hospital. Participants: One hundred seventy-two unrelated Mexican patients with NSCL/P, 128 of whom had previously been included in a NSCL/P case–control association study. Main Outcomes Measurements: Sanger sequencing of the 9 IRF6 exons were performed, all variants respect with sequence reference were reported and classified for their pathogenic significance according to the American College of Medical Genetics and Genomics guidelines. Results: Seven percent of cases were familial. No pathogenic variant was identified in IRF6. We identified 12 previously reported benign variants; their frequencies did not significantly differ from those reported for individuals of Mexican ancestry. Three of them were uncommon intronic variants not reported in ClinVar. The rs2235371 and rs2235375 variants, which were previously analyzed in a NSCL/P case–control association study (containing 132 patients, 128 of whom were analyzed herein) did not show discordant association results comparing to the 370 controls from the previous study. Conclusions: The misdiagnosis of IRF6-related VWS as NSCL/P appears to be infrequent in our sample, suggesting that mutational screening of IRF6 would have a low diagnostic yield in patients with NSCL/P. The absence of IRF6 pathogenic alleles could be related to the application of an exhaustive clinical evaluation that discarded the syndromic forms and/or the low proportion of familial cases included.
Parent’s Experiences During Orthodontic Treatment of Their Children With Cleft Lip and Palate: Phenomenological Study
Authors: Imani Mohammad Moslem , Jalali Amir , Nouri Prichehr , Golshah Amin 
Published: December 2020

Objectives: Cleft lip and palate (CLP) is a congenital anomaly that affects not only the patients but also their family members and companions. Identifying the problems encountered by patients with CLP and their families can greatly help clinicians in efficient treatment planning to obviate the treatment needs and promote the quality of life of patients. This study aimed to determine the experiences of the parents of children with CLP undergoing orthodontic treatment. Methods: This study was conducted based on descriptive phenomenology using the Colaizzi’s 7-step analysis method of phenomenological data. The private orthodontic clinics of Kermanshah city were evaluated in this study. The participants included the parents of children with CLP younger than 15 years who had presented to the clinics seeking orthodontic treatment. In-depth semistructured interviews with open-ended questions were used to collect information regarding the experiences of parents in this process. The collected data were analyzed using the Colaizzi’s 7-step analysis. Results: Qualitative analysis of the interviews yielded 271 codes, 18 subthemes, 7 themes, and 3 main themes including fatigue (exhaustion, helplessness, and incompetence), self-reliance (mutual support and empathy), and the need for social support (counseling services and citizenship rights). Conclusion: In general, the results revealed that parents of children with CLP under orthodontic treatment are vulnerable due to their previous adverse experiences in the course of treatment of their children and need support in several physical, psychological, social and spiritual domains.
Relationship between corneal stiffness parameters and lamina cribrosa curvature in normal tension glaucoma
Authors: Sun Yunxiao , Guo Yiqin , Cao Kai , Zhang Yue , Xie Yuan , Pang Ruiqi , Shi Yan , Wang Huaizhou , Wang Ningli 
Published: December 2020

Purpose: To evaluate the relationship between corneal biomechanical parameters and lamina cribrosa (LC) curvature in normal tension glaucoma (NTG). Methods: 95 eyes of 56 NTG patients were enrolled in this prospective, observational study. Corneal biomechanical parameters, including stiffness parameters at applanation 1 (SP-A1), deformation amplitude ratio (DA ratio), inverse concave radius and biomechanically corrected intraocular pressure estimate (bIOP), were captured using the Corneal Visualization Scheimpflug Technology instrument (Corvis-ST). LC curvature was evaluated by mean adjusted LC curvature index (maLCCI) averaged by the measurements on 12 radial B-scan images obtained using swept-source optical coherence tomography (SS-OCT). Linear mixed models were constructed to assess the relationship between corneal biomechanical parameters and LC curvature. Results: The mean age of participants was 51.04 ± 13.74 years (range, 24–82 years). The SP-A1 and maLCCI were 93.50 ± 13.82 mm Hg/mm and 7.57 ± 1.58, respectively. In univariate and multivariate analysis, SP-A1 ( p < 0.001 and p = 0.001) and age ( p = 0.010 and p = 0.024) were both significantly associated with maLCCI. The LC curvature increased with softer cornea demonstrated by lower SP-A1 and younger eyes. There was no statistical significance interaction between SP-A1 and age ( p = 0.194). Conclusions: The greater posterior LC curvature was associated with lower corneal stiffness parameters and younger eyes in NTG patients. Clinical Trial Registration: Chinese Clinical Trial Registry, ChiCTR1900021465.
Impact of the COVID-19 pandemic on persons with multiple sclerosis: Early findings from a survey on disruptions in care and self-reported outcomes
Authors: Manacorda Tommaso , Bandiera Paolo , Terzuoli Federica , Ponzio Michela , Brichetto Giampaolo , Zaratin Paola , Bezzini Daiana , Battaglia Mario A 
Published: December 2020

Objective To describe the disruptions in care experienced by persons with Multiple Sclerosis in Italy due to the COVID-19 pandemic and the self-reported impact on their health and wellbeing. Methods A cross-sectional online survey was completed by 2722 persons with Multiple Sclerosis, after Italy instituted a national lockdown in response to the pandemic. Results Persons with Multiple Sclerosis reported that the pandemic caused broad disruptions to usual health and social care services, which impacted on their health and wellbeing. Disruptions in care were consistently associated with negative self-reported impacts on the expected progression of the disease, on out-of-pocket expenditure and on carer’s stress. Psychological consequences were associated with interruption to usual psychological support, and concerns about the safety of care delivered in person. Conclusions The quality of life of persons with Multiple Sclerosis depends greatly on prompt access to a broad range of health and care services. Negative psychological impacts reported by persons with Multiple Sclerosis with less severe disabilities show that accessible integrated services are crucial for maintenance of their wellbeing. Most persons with Multiple Sclerosis with more severe disability experienced negative impacts on perceived health. Their carers compensating for lack of social input resulted in care overburden. As continuity of care is crucial for persons with Multiple Sclerosis, as well as for persons with chronic conditions in general, strategies must be in place to ensure it is included in future pandemic response plans.
Sex disparity in long-term stroke recurrence and mortality in a rural population in the United States
Authors: Lambert Clare , Chaudhary Durgesh , Olulana Oluwaseyi , Shahjouei Shima , Avula Venkatesh , Li Jiang , Abedi Vida , Zand Ramin 
Published: December 2020

Background: Several studies suggest women may be disproportionately affected by poorer stroke outcomes than men. This study aims to investigate whether women have a higher risk of all-cause mortality and recurrence after an ischemic stroke than men in a rural population in central Pennsylvania, United States. Methods: We analyzed consecutive ischemic stroke patients captured in the Geisinger NeuroScience Ischemic Stroke research database from 2004 to 2019. Kaplan–Meier (KM) estimator curves stratified by gender and age were used to plot survival probabilities and Cox Proportional Hazards Ratios were used to analyze outcomes of all-cause mortality and the composite outcome of ischemic stroke recurrence or death. Fine–Gray Competing Risk models were used for the outcome of recurrent ischemic stroke, with death as the competing risk. Two models were generated; Model 1 was adjusted by data-driven associated health factors, and Model 2 was adjusted by traditional vascular risk factors. Results: Among 8900 adult ischemic stroke patients [median age of 71.6 (interquartile range: 61.1–81.2) years and 48% women], women had a higher crude all-cause mortality. The KM curves demonstrated a 63.3% survival in women compared with a 65.7% survival in men ( p = 0.003) at 5 years; however, the survival difference was not present after controlling for covariates, including age, atrial fibrillation or flutter, myocardial infarction, diabetes mellitus, dyslipidemia, heart failure, chronic lung diseases, rheumatic disease, chronic kidney disease, neoplasm, peripheral vascular disease, past ischemic stroke, past hemorrhagic stroke, and depression. There was no adjusted or unadjusted sex difference in terms of recurrent ischemic stroke or composite outcome. Conclusion: Sex was not an independent risk factor for all-cause mortality and ischemic stroke recurrence in the rural population in central Pennsylvania.
Add-on treatment with mirabegron may improve quality of life in patients with benign prostatic hyperplasia complaining of persistent storage symptoms after tamsulosin monotherapy
Authors: Kang Tae Wook , Chung Hyun Chul 
Published: December 2020

Background: The aim of this study was to evaluate the change in lower urinary tract symptoms and quality of life (QoL) after combination therapy of solifenacin and mirabegron in patients with benign prostatic hyperplasia presenting with persistent storage symptoms after treatment with tamsulosin. Material & Methods: We evaluated the International Prostatic Symptom Score (IPSS), Overactive Bladder Symptom Score (OABSS), prostate-specific antigen, prostate volume, peak flow rate (Qmax), and post-voided residual volume (PVR) before and after treatment. Patients showing baseline OABSS ⩾3 were included and treated with tamsulosin 0.2 mg as an initial drug for 1 month. After 1 month, add-on treatment with solifenacin 5 mg or mirabegron 50 mg was provided to patients who did not show improvement in OABSS with tamsulosin 0.2 mg. After 2 months, we evaluated changes in OABSS, IPSS, Qmax, and PVR. Results: After combination therapy for 2 months, there were no significant differences between patients receiving add-on treatment with solifenacin and those receiving mirabegron. However, the IPSS QoL score improved in patients treated with mirabegron and tamsulosin more than in those treated with solifenacin and tamsulosin ( p < 0.05). Conclusion: A combination of tamsulosin and mirabegron might improve the QoL of patients presenting with persistent storage symptoms after tamsulosin monotherapy. Better QoL due to mirabegron compared with solifenacin could be associated with fewer adverse effects, such as dry mouth and constipation.
Combination of tissue and liquid biopsy molecular profiling to detect transformation to small cell lung carcinoma during osimertinib treatment
Authors: Vendrell Julie A. , Quantin Xavier , Serre Isabelle , Solassol Jérôme 
Published: December 2020

Background: Histological transformation of advanced non-small cell lung cancer (NSCLC) to small cell lung cancer (SCLC) is one of the mechanisms of resistance to third-generation tyrosine kinase inhibitors (TKIs), such as osimertinib. This acquired TKI resistance is linked to the high degree of tumor heterogeneity and adaptive cellular signaling pathways, including epidermal growth factor receptor ( EGFR)-dependent pathways, observed in NSCLC. Methods: Here, we investigated a series of paired pre- and post-histological transformation biopsies obtained from three patients initially having a NSCLC with an EGFRactivating mutation treated with first-generation TKI, who then received osimertinib as second-line after EGFRT790M resistance and, lastly, developed a histological transformation to SCLC. Both tissue and liquid biopsies were analyzed using large panel sequencing approaches at various time points to reconstruct the clonal evolutionary history of the tumor. Results: Our complementary analysis of tumor tissue and circulating tumor DNA samples allowed us to better characterize the histological and molecular alterations associated with resistance to osimertinib. SCLC transformation was linked to the presence of several concomitant gene alterations, including EGFR, TP53 and RB1, but also to specific signal bypass, such as EGFR and MET amplifications and activation of the PI3K/AKT/mTOR pathway. Conclusion: Our report emphasizes the mutational landscape of SCLC histological transformation and highlights the importance of combining tissue and liquid biopsy profiling before and during osimertinib treatment to predict such histological transformation.
Evaluation of efficacy of chemotherapy for mucinous carcinoma: a surveillance, epidemiology, and end results cohort study
Authors: Zhang Hanwen , Zhang Ning , Li Yaming , Liang Yiran , Yang Qifeng 
Published: December 2020

Background: In this study, we investigated the impact of chemotherapy on breast cancer-specific survival (BCSS) in patients with mucinous carcinoma using the surveillance, epidemiology, and end results ( SEER) database. Methods: A large-scale SEER-based retrospective analysis was conducted; 13,329 patients with mucinous carcinoma from 1994 to 2014 were identified. Clinicopathological characteristics were compared using the chi-square test. BCSS curves were generated using the Kaplan–Meier method. The prognostic significance of all demographic and clinicopathological characteristics and treatment patterns were calculated using univariate and multivariate regression analyses. Results: Mucinous carcinoma was demonstrated to be less aggressive than invasive ductal carcinoma and predicted a better prognosis in the Kaplan–Meier analysis (hazard ratios = 0.336, 95% confidence interval: 0.308–0.368, p < 0.001). Univariate and multivariate analyses revealed that chemotherapy did not provide any additional benefit for patients with mucinous carcinoma. Predictors for receiving chemotherapy were younger age, estrogen receptor-negative, progesterone receptor-negative, and human epidermal growth factor receptor 2-positive status, higher grade, larger tumor size, lymph node involvement, radiation reception, and mastectomy. Further subgroup analysis verified that regardless of the hormone receptor (HR) and lymph node (LN) status, patients did not benefit from chemotherapy. Conclusion: Our study showed that patients with HR+/LN– mucinous carcinoma did not benefit from chemotherapy and that chemotherapy could not improve the survival of all subtypes of mucinous carcinoma based on large-scale SEER data. These results support that patients with mucinous carcinoma could be exempt from chemotherapy. Additional research is needed to further evaluate the impact of adjuvant treatments, particularly in patients with favorable histology.
Prevalence of Osteoporosis Treatment and Its Effect on Post-Operative Complications, Revision Surgery and Costs After Multi-Level Spinal Fusion
Authors: Jain Nikhil , Labaran Lawal , Phillips Frank M. , Khan Safdar N. , Jain Amit , Kebaish Khaled M. , Hassanzadeh Hamid 
Published: December 2020

Study Design: Retrospective cohort study. Objective: To study the prevalence of pre-operative osteoporosis treatment, and its effect on risk of ORC, revision surgery and costs in osteoporotic patients undergoing ≥3-level spinal fusion for degenerative pathology. Methods: Patients and procedures of interest were included using International Classification of Diseases (ICD) and Current Procedural Terminology (CPT) coding. Our outcome measures were ORC at 1-year post-operatively and included instrumentation complications, pathological fracture, and revision surgery. Kaplan-Meier survival curves and Cox proportional hazards analysis was done to study the effect of osteoporosis treatment on risk of ORC. Results: We included a total of 849 patients with documented osteoporosis undergoing ≥3-level spinal fusion. White (85.6%), female (82.7%), and 60-79 years of age (79.9%) was the most common demographic. Of entire cohort, 121(14.3%) were on osteoporosis treatment prior to spinal fusion. Of treated patients, 52/121 (43.0%) had continued prescriptions at 1 year post-operatively. Treated patients and not-treated patients had 1-year ORC incidence of 9.1% and 15.0%, respectively. The average 1-year reimbursement/patient for managing ORC was $3,053 (treated) and $21,147 (not-treated). On adjusted cox analysis, pre-operative osteoporosis treatment was associated with a lower risk of ORC (HR: 0.53, 95% CI: 0.28-0.99, p = 0.04). Conclusions: Pre-operative osteoporosis treatment is associated with lower risk of ORC and revision surgery at 1-year after ≥3-level spinal fusion. There is a low incidence of osteoporosis treatment prior to spinal fusion, and subsequently a low rate of treatment continuation after surgery. These findings highlight the need for heightened awareness, patient education and management of osteoporosis before elective multi-level spinal fusion.
Arthroscopic Reduction and Fixation by Cerclage Wire Loop for Tibial Spine Avulsion in Adults: Short-term Results
Authors: Bayoumy Maysara Abdelhalim , Abdelhamid Mohamed M. , Elkady Hesham A. , Mohamed Mohamed Mosa 
Published: December 2020

Background: Several arthroscopic techniques for the treatment of avulsion tibial spine fractures have been described in the literature. Purpose: To evaluate the outcomes of the arthroscopically assisted stainless steel wiring technique in the treatment of avulsed tibial spine in adults. Study Design: Case series; Level of evidence, 4. Methods: This retrospective study involved 28 patients (28 knees), 16 to 42 years of age, with tibial spine avulsion fracture that was treated using arthroscopic reduction and cerclage wire fixation by a single surgeon between March 2015 and August 2018. The degrees of avulsion in these patients were type II (n = 12), type III (n = 10), and type IV fractures (n = 6). Clinical assessment included International Knee Documentation Committee (IKDC) objective score (which noted swelling), range of knee movement, Tegner activity scale, Lachman test, and pivot-shift test compared with the normal opposite knee. Results: The mean follow-up period was 24.1 months (range, 18-30 months). The mean IKDC score was 93.7 (range, 88.5-98.9); the IKDC score was normal in 22 patients and nearly normal in 6 patients. The Lachman test was grade 1 in 25 patients and grade 2 in 3 patients, whereas the pivot-shift test was grade 0 in 26 patients and grade 1 in 2 patients. All patients achieved their preinjury Tegner activity levels. Radiological assessment showed healing in all patients within a mean of 12 weeks after surgery. Conclusion: The outcomes of all patients were satisfactory; fixation by cerclage wiring permitted reduction of tibial spine fragment anatomically to its fracture bed, provided stable fixation in displaced tibial spine avulsion, and allowed for early rehabilitation and weightbearing because of stable fixation.
Return to Sport After Arthroscopic Treatment of Posterior Shoulder Instability
Authors: Pavlik Attila , Tátrai Miklós , Papp Eszter 
Published: December 2020

Background: Arthroscopic treatment of posterior shoulder instability has become more popular and effective in recent years, but few data are available concerning the rate of return to sport. Purpose: To present our experiences with arthroscopic posterior labral reconstruction in athletes and review our results, with a particular focus on the rate of return to sport. Study Design: Case series; Level of evidence, 4. Methods: Included in the study were 40 arthroscopic stabilizations performed because of posterior shoulder instability in 37 athletes at a single institution. During follow-up, the athletes’ rate of return to sport was calculated. Shoulder function was evaluated based on a pre- versus postoperative comparison of the Rowe instability score and the American Shoulder and Elbow Surgeons score. Additionally, the return-to-sport rate was compared among different subgroups: traumatic versus atraumatic origin of injury, competitive versus recreational athletes, high-risk versus low-risk sport, and posterior-only versus anterior and posterior stabilization. Data were statistically analyzed using paired-samples t test and nonparametric Fisher exact test. Results: The average follow-up period was 54.4 months (range, 24-112 months). Three shoulders (7.5%) continued to have posterior subluxations postoperatively. There were 34 excellent, 3 good, and 3 fair results based on the Rowe score (average postoperative score, 92.9), and patients achieved an average postoperative American Shoulder and Elbow Surgeons score of 92.7. The pre- to postoperative improvement was statistically significant in both scoring systems ( P < .001). Of the 37 patients, 36 (98.2%) were able to return to sport activity: 27 of them (72.9%) to their original sport and 19 (51.4%) at their preinjury level. A significantly higher rate of return to the same sport occurred in athletes who had traumatic injury compared with a subgroup of athletes without a traumatic event ( P < .02). Conclusion: More than half of the athletes were able to return to their preinjury level of sport after arthroscopic posterior labral reconstruction. In addition, low recurrence rates and good functional outcomes were seen in >90% of the patients, and 98% returned to sport activity. The athletes had a significantly higher rate of return to sport if their posterior shoulder instability had a clear traumatic origin.