bluuebunny/crossref_metadata_2025 huggingface dataset:
A genome-wide association study identifies susceptibility loci for primary central nervous system lymphoma at 6p25.3 and 3p22.1: a LOC Network study
Authors: Labreche Karim , Daniau Mailys , Sud Amit , Law Philip J , Royer-Perron Louis , Holroyd Amy , Broderick Peter , Went Molly , Benazra Marion , Ahle Guido , Soubeyran Pierre , Taillandier Luc , Chinot Olivier L , Casasnovas Olivier , Bay Jacques-Olivier , Jardin Fabrice , Oberic Lucie , Fabbro Michel , Damaj Gandhi , Brion Annie , Mokhtari Karima , Philippe Cathy , Sanson Marc , Houillier Caroline , Soussain Carole , Hoang-Xuan Khê , Houlston Richard S , Alentorn Agusti ,   LOC Network, Moles-Moreau Marie-Pierre , Gressin Rémy , Delwail Vincent , Morschhauser Franck , Agapé Philippe , Jaccard Arnaud , Ghesquieres Hervé , Tempescul Adrian , Gyan Emmanuel , Marolleau Jean-Pierre , Houot Roch , Fornecker Luc , Stefano Anna-Luisa Di , Detrait Inès , Rahimian Amithys , Lathrop Mark , Genet Diane , Davi Frédéric , Cassoux Nathalie , Touitou Valérie , Choquet Sylvain , Vital Anne , Polivka Marc , Figarella-Branger Dominique , Benouaich-Amiel Alexandra , Campello Chantal , Charlotte Frédéric , Martin-Duverneuil Nadine , Feuvret Loïc , Kas Aurélie , Navarro Soledad , Villa Chiara , Bielle Franck , Chretien Fabrice , Tortel Marie Christine , Gauchotte Guillaume , Uro-Coste Emmanuelle , Godfrain Catherine , Rigau Valérie , Costopoulos Myrto , Garff-Tavernier Magalie Le , Meyronnet David , Rousseau Audrey , Adam Clovis , Lamy Thierry , Chabrot Cécile , Boyle Eileen M , Blonski Marie , Schmitt Anna
Published: May 2019

Background

Primary central nervous system lymphoma (PCNSL) is a rare form of extra-nodal non-Hodgkin lymphoma. PCNSL is a distinct subtype of non-Hodgkin lymphoma, with over 95% of tumors belonging to the diffuse large B-cell lymphoma (DLBCL) group. We have conducted a genome-wide association study (GWAS) on immunocompetent patients to address the possibility that common genetic variants influence the risk of developing PCNSL.

Methods

We performed a meta-analysis of 2 new GWASs of PCNSL totaling 475 cases and 1134 controls of European ancestry. To increase genomic resolution, we imputed >10 million single nucleotide polymorphisms using the 1000 Genomes Project combined with UK10K as reference. In addition we performed a transcription factor binding disruption analysis and investigated the patterns of local chromatin by Capture Hi-C data.

Results

We identified independent risk loci at 3p22.1 (rs41289586, ANO10, P = 2.17 × 10−8) and 6p25.3 near EXOC2 (rs116446171, P = 1.95 x 10−13). In contrast, the lack of an association between rs41289586 and DLBCL suggests distinct germline predisposition to PCNSL and DLBCL. We found looping chromatin interactions between noncoding regions at 6p25.3 (rs11646171) with the IRF4 promoter and at 8q24.21 (rs13254990) with the MYC promoter, both genes with strong relevance to B-cell tumorigenesis.

Conclusion

To our knowledge this is the first study providing insight into the genetic predisposition to PCNSL. Our findings represent an important step in defining the contribution of common genetic variation to the risk of developing PCNSL.
A review of evidence supporting current strategies, challenges, and opportunities to reduce portion sizes
Authors: Almiron-Roig Eva , Forde Ciaran G , Hollands Gareth J , Vargas M Ángeles , Brunstrom Jeffrey M
Published: May 2019

Although there is considerable evidence for the portion-size effect and its potential impact on health, much of this has not been successfully applied to help consumers reduce portion sizes. The objective of this review is to provide an update on the strength of evidence supporting strategies with potential to reduce portion sizes across individuals and eating contexts. Three levels of action are considered: food-level strategies (targeting commercial snack and meal portion sizes, packaging, food labels, tableware, and food sensory properties), individual-level strategies (targeting eating rate and bite size, portion norms, plate-cleaning tendencies, and cognitive processes), and population approaches (targeting the physical, social, and economic environment and health policy). Food- and individual-level strategies are associated with small to moderate effects; however, in isolation, none seem to have sufficient impact on food intake to reverse the portion-size effect and its consequences. Wider changes to the portion-size environment will be necessary to support individual- and food-level strategies leading to portion control.
Short-term Physiologic Consequences of Regional Pulmonary Vascular Occlusion in Pigs
Authors: Langer Thomas , Castagna Valentina , Brusatori Serena , Santini Alessandro , Mauri Tommaso , Zanella Alberto , Pesenti Antonio
Published: May 2019

Editor’s Perspective

What We Already Know about This Topic

What This Article Tells Us That Is New

Background

Acute unilateral pulmonary arterial occlusion causes ventilation–perfusion mismatch of the affected lung area. A diversion of ventilation from nonperfused to perfused lung areas, limiting the increase in dead space, has been described. The hypothesis was that the occlusion of a distal branch of the pulmonary artery would cause local redistribution of ventilation and changes in regional lung densitometry as assessed with quantitative computed tomography.

Methods

In eight healthy, anesthetized pigs (18.5 ± 3.8 kg) ventilated with constant ventilatory settings, respiratory mechanics, arterial blood gases, and quantitative computed tomography scans were recorded at baseline and 30 min after the inflation of the balloon of a pulmonary artery catheter. Regional (left vs. right lung and perfused vs. nonperfused area) quantitative computed tomography was performed.

Results

The balloon always occluded a branch of the left pulmonary artery perfusing approximately 30% of lung tissue. Physiologic dead space increased (0.37 ± 0.17 vs. 0.43 ± 0.17, P = 0.005), causing an increase in Paco
2 (39.8 [35.2 to 43.0] vs. 41.8 [37.5 to 47.1] mmHg, P = 0.008) and reduction in pH (7.46 [7.42 to 7.50] vs. 7.42 [7.38 to 7.47], P = 0.008). Respiratory system compliance was reduced (24.4 ± 4.2 vs. 22.8 ± 4.8 ml · cm H2O−1, P = 0.028), and the reduction was more pronounced in the left hemithorax. Quantitative analysis of the nonperfused lung area revealed a significant reduction in lung density (−436 [−490 to −401] vs. −478 [−543 to −474] Hounsfield units, P = 0.016), due to a reduction in lung tissue (90 ± 23 vs. 81 ± 22 g, P < 0.001) and an increase in air volume (70 ± 22 vs. 82 ± 26 ml, P = 0.022).

Conclusions

Regional pulmonary vascular occlusion is associated with a diversion of ventilation from nonperfused to perfused lung areas. This compensatory mechanism effectively limits ventilation perfusion mismatch. Quantitative computed tomography documented acute changes in lung densitometry after pulmonary vascular occlusion. In particular, the nonperfused lung area showed an increase in air volume and reduction in tissue mass, resulting in a decreased lung density.
Intrafocal joystick technique for closed reduction and percutaneous fixation of late-presenting supracondylar fractures of the humerus
Authors: Rizk Ahmed Shawkat , Tabl Eslam Abdelshafy
Published: May 2019

Background:

Pediatric supracondylar humeral fractures are common and challenging injuries. The preferred approach is early closed reduction and percutaneous pinning; however, this fails in up to 25% of patients, and conversion to open reduction, especially in late-presenting patients, has been reported in 3% to 46% of patients due to severe swelling or skin problems around the elbow. This study presents a reduction technique that uses a temporary intrafocal Kirschner wire to allow indirect and more effective manipulation of the distal fragment, facilitating closed reduction in difficult situations.

Methods:

This study retrospectively evaluated the results of an intrafocal joystick technique that was used to aid closed reduction in 15 patients with late-presenting, displaced supracondylar humeral fractures with unfavorable soft-tissue conditions around the elbow. The mean patient age was 6±2.7 yr and the mean injury-to-surgery interval (delay) was 4±2.7 days. Baumann’s angle, humerocapitellar angle, the anterior humeral line-capitellum relationship were used for radiographic evaluation of the initial reduction and throughout the follow-up that lasted for a mean of 9.4±3.6 mo. The functional and cosmetic outcomes were assessed according to Flynn’s criteria and the Mayo Elbow Performance Index.

Results:

None of the patients could be successfully treated with the standard method. The intrafocal joystick technique succeeded in achieving acceptable closed reduction in 12 of 15 patients; the remaining three patients required open reduction and internal fixation. All fractures united, and wires were removed at a mean of 5.4±1.6 wk. Functional range of motion was regained after a mean period of 7.2±3.5 wk, while full elbow range of motion was regained after a mean period of 12.2±3.5 wk. According to Flynn’s criteria and the Mayo Elbow Performance Index, all patients had an excellent result.

Conclusions:

The intrafocal joystick technique for closed reduction and percutaneous fixation of irreducible supracondylar fractures of the humerus in certain difficult situations can effectively and safely achieve satisfactory radiographic and functional outcomes and decrease the need for conversion to an open reduction. Open reduction and internal fixation are essential in some patients but should only be used after all techniques of closed reduction and percutaneous fixation have failed.

Level of Evidence:

Level III retrospective.
Parameters identifying the risk of treatment failure after cartilage repair: a proposed treatment algorithm and pilot study
Authors: Riyadh Hasan , Andjelkov Nenad , Wretenberg Per
Published: May 2019

Background:

Cartilage defects often are treated with different techniques depending on the surgeon’s preferences and technical availability. A more systematic approach is therefore needed as a practical guide for surgeons regarding the choice of a suitable treatment for a particular patient.

Methods:

A retrospective descriptive study was done on 40 patients operated on with one of the following techniques: arthroscopic microfracture, periosteal transplantation and assisted matrix induced chondrogenesis (AMIC) technique. The average age of patients was 30.5 yr, with a minimum of 12 and a maximum of 54 yr. The average size of the injury was 2.67 cm2, with a minimum of 1 cm2 and a maximum of 6 cm2. The distribution of the injuries was as follows: trochlea 22.5%, medial femoral condyle 45%, patella 30%, and lateral femoral condyle 2.5%.

Results:

The proportion of patients who were not satisfied was 21% after 1-year follow-up. The proportion of reoperated patients was 12.5%. The proportion of patients operated on previously was 12.5%. The proportion of patients with multiple chondral defects was 7.5%. Younger patients fared better.

Conclusions:

Microfracture as the primary technique led to the most failures, but because of its simplicity and balanced clinical results, it should be used as the gold standard, especially in younger patients. Open techniques, AMIC, and periosteal transplantation should be reserved as second choice treatments after failure and as a first choice treatment for multiple lesions, larger defects, older patients, and for defects such as osteochondritis dissecans where there is a need for autologous cancellous bone transplantation.
Minimum Three-year Follow-up of Specific Functional Disabilities After Multilevel Lumbar Fusion
Authors: Park Jin-Sung , Lee Chong-Suh , Park Se-Jun , Lee Kyung-Joon , Yum Tae-Hoon
Published: May 2019

Study Design.

Retrospective case-control study.

Objective.

To evaluate specific functional disabilities after short- and long-level lumbar fusion.

Summary of Background Data.

The Oswestry Disability Index (ODI) cannot represent all types of functional disabilities observed after lumbar fusion and a region-specific Functional Disability Index (SFDI) is necessary.

Methods.

We examined the differences in postoperative functional disability between 81 patients who underwent ≥3-level lumbar fusion (group I) and 70 age- and sex-matched patients who underwent one- or two-level lumbar fusion (group II). The ODI and Visual Analogue Scale (VAS) were assessed pre- and postoperatively. The SFDI was assessed after lumbar fusion. We evaluated intergroup differences in postoperative VAS, ODI, and SFDI scores during 3-year follow-up. Each mean score was evaluated separately for the 10 ODI and the 12 SFDI items, and we evaluated the changes observed in these scores over the 3-year follow-up.

Results.

The mean intergroup preoperative ODI and VAS scores were similar. The mean postoperative intergroup VAS scores were similar; however, the mean postoperative ODI and SFDI scores were significantly higher in group I than in group II at 1-year (P<0.001, P<0.001, respectively) and 3-year follow-up (P = 0.037, P<0.001, respectively). Among 10 ODI items, group I showed significant disability with regard to six items at the 1-year follow-up compared with group II, but only showed significant disability with regard to one item at the 3-year follow-up. Among the 12 SFDI items, group I showed significant disability with regard to all 12 items at 1-year follow-up compared with group II, as well as significant disability with regard to nine items at 3-year follow-up.

Conclusion.

The SFDI is more sensitive than the ODI in assessing functional disabilities based on the levels of fusion. Most SFDI items indicated continued significant disability in patients with long-level lumbar fusion even 3 years postoperatively.

Level of Evidence: 3
New York Arthroplasty Council (NYAC) Consensus on Reducing Risk in Total Joint Arthroplasty: Obesity
Authors: Rudy Hayeem L. , Vigdorchik Jonathan M. , Long William J. , Schwarzkopf Ran
Published: May 2019

Obesity is an epidemic in the United States and a growing concern for adult reconstructive surgeons. Patients with obesity are significantly more likely to require total joint arthroplasty (TJA) compared with nonobese counterparts. In addition to being an independent risk factor for the development of complications after TJA, obesity is associated with numerous comorbidities that increase the risk of complicated TJA. Preoperative optimization of both body mass index and comorbidities is essential to reducing the risk burden imposed by this prevalent disease. In recent decades, bariatric surgery has been considered as an experimental technique to alleviate lower extremity osteoarthritic symptoms, obviate the need for TJA, and optimize body mass index in obese patients before TJA. This article reviews the literature related to these topics, and focuses on the reduction of risk in TJA in relation to obesity in general.
Trends and Outcomes in Sepsis Hospitalizations With and Without Atrial Fibrillation: A Nationwide Inpatient Analysis
Authors: Desai Rupak , Hanna Bishoy , Singh Sandeep , Omar Ahmed , Deshmukh Abhishek , Kumar Gautam , Foreman Marilyn G. , Sachdeva Rajesh
Published: May 2019

Objectives:

Atrial fibrillation is frequently seen in sepsis-related hospitalizations. However, large-scale contemporary data from the United States comparing outcomes among sepsis-related hospitalizations with versus without atrial fibrillation are limited. The aim of our study was to assess the frequency of atrial fibrillation and its impact on outcomes of sepsis-related hospitalizations.

Design:

Retrospective cohort study.

Setting:

The National Inpatient Sample databases (2010–2014).

Patients:

Primary discharge diagnosis of sepsis with and without atrial fibrillation were identified using prior validated International Classification of Diseases, 9th Edition, Clinical Modification codes.

Interventions:

None.

Measurements and Main Results:

Overall, 5,808,166 hospitalizations with the primary diagnosis of sepsis, of which 19.4% (1,126,433) were associated with atrial fibrillation. The sepsis-atrial fibrillation cohort consisted of older (median [interquartile range] age of 79 yr [70–86 yr] vs 67 yr [53–79 yr]; p < 0.001) white (80.9% vs 68.8%; p < 0.001) male (51.1% vs 47.5%; p < 0.001) patients with an extended length of stay (median [interquartile range] 6 d [4–11 d] vs 5 d [3–9 d]; p < 0.001) and higher hospitalization charges (median [interquartile range] $44,765 [$23,234–$88,657] vs $35,737 [$18,767–$72,220]; p < 0.001) as compared with the nonatrial fibrillation cohort. The all-cause mortality rate in the sepsis-atrial fibrillation cohort was significantly higher (18.4% and 11.9%; p = 0.001) as compared with those without atrial fibrillation. Although all-cause mortality (20.4% vs 16.6%) and length of stay (median [interquartile range] 7 d [4–11 d] vs 6 d [4–10 d]) decreased between 2010 and 2014, hospitalization charges increased (median [interquartile range] $41,783 [$21,430–$84,465] vs $46,251 [$24,157–$89,995]) in the sepsis-atrial fibrillation cohort. The greatest predictors of mortality in the atrial fibrillation-sepsis cohort were African American race, female gender, advanced age, and the presence of medical comorbidities.

Conclusions:

The presence of atrial fibrillation among sepsis-related hospitalizations is a marker of poor prognosis and increased mortality. Although we observed rising trends in sepsis and sepsis-atrial fibrillation–related hospitalizations during the study period, the rate and odds of mortality progressively decreased.
Feasibility and Outcomes of the Early Start Denver Model Implemented with Low Intensity in a Community Setting in Austria
Authors: Holzinger Daniel , Laister Dominik , Vivanti Giacomo , Barbaresi William Joseph , Fellinger Johannes
Published: May 2019

Objective:

To investigate the feasibility and effectiveness of early autism intervention with the Early Start Denver Model (ESDM) implemented with low intensity in a community service in Europe.

Methods:

Subjects were boys (n = 13, ages 34–54 months, mean age 43.3 months) consecutively diagnosed with autism spectrum disorder in a regional autism center in Austria. The subjects either received the ESDM intervention for 4.6 hours weekly over 12 months (n = 7) or intervention as usual (n = 6). Feasibility of the ESDM intervention was evaluated by parent and teacher questionnaires, ESDM fidelity measures, and therapists' feedback. Developmental status was assessed through standardized instruments (Mullen Scales of Early Learning [MSEL], Vineland Adaptive Behavior Scales Second Edition, Communicative Development Inventory, Pervasive Developmental Disorder Behavior Inventory [PDDBI], Parenting Sense of Competence Scale) at baseline and after intervention.

Results:

The ESDM intervention was delivered with high fidelity (>80%) by a newly trained multiprofessional team. Acceptability by parents was rated as high. The ESDM was considered to be compatible with both family and preschool routines without any major adaptations. The ESDM group showed a trend toward improved receptive language (MSEL receptive language; p = 0.09, effect size [ES] = 0.72) and reduction in parent-reported core autism symptoms (PDDBI Autism Composite Score; p = 0.04; ES = 0.95). No such improvement was noted in the control group.

Conclusion:

Low-intensity implementation of the ESDM in a non–English-speaking community service context is feasible. Although outcomes from this small feasibility study should be interpreted with caution, our findings suggest a more favorable response to the ESDM intervention group compared with the control group.
Higher Prevalence of Abnormal Electrocardigrams (ECG) in African Americans Undergoing Screening ECG and Echocardiography
Authors: Movahed Mohammad Reza , Sattur Sudhakar , Bates Sharon
Published: May 2019

Background:

African American (AA) has higher prevalence of abnormal electrocardigrams (ECG) in general population. However, the degree of these abnormalities in a healthy population undergoing screening echocardiography is not known. The goal of this study was to evaluate the prevalence of ECG abnormalities reported during screening echocardiography based on race.

Method:

The Anthony Bates Foundation has been performing screening across the United States for the prevention of sudden death since 2001. We evaluated a total of 633 participants with documented race and ECG for the presence of any abnormalities.

Results:

The age of the study population ranged between 6 and 75 years old. The prevalence of abnormal ECG in AA participant was 20.7% (12/58) versus 6.6% (38/578) in other races [odds ratio (OR), 3.70; confidence interval (CI), 1.8–7.58;
P
< 0.001]. Using multivariate analysis adjusting for age, sex, body mass index, left ventricular hypertrophy, and hypertension (systolic blood pressure >140 and diastolic blood pressure of >90), AA race remained independently associated with abnormal ECG (OR, 2.58; CI, 1.12–5.97; P = 0.02). Limiting our study only to teenagers (age, 13–19 years), AA race remained significantly associated with higher prevalence of ECG abnormalities [23.1% (12/58) of teenage AA had abnormal ECG vs. 7.5% (24/321) of other teenage races; OR, 3.71; CI, 1.36–10.11; P = 0.006]. After excluding benign ECG abnormalities such as sinus bradycardia and early repolarization, AA race remained significantly associated with higher prevalence of abnormal ECG (16.7% vs. 7.3%; OR, 2.52; CI, 0.998–6.39; P = 0.054).

Conclusions:

The prevalence of abnormal ECG is higher in AA race independent of echocardiographic abnormalities or demographics. However, some of these abnormalities appear to be related to sinus bradycardia and early repolarization.
Clinical Characteristics of Young Patients With Heart Failure With Reduced Ejection Fraction in a Racially Diverse Cohort
Authors: Zepeda Ignacio , Li Dan L. , Quispe Renato , Taub Cynthia C.
Published: May 2019

Background:

Information on the clinical and echocardiographic characteristics of young patients with heart failure with reduced ejection fraction is scant, especially among racially diverse populations.

Methods:

Patients admitted to Montefiore Medical Center between 2000 and 2016 with heart failure and ejection fraction of <40% were categorized as young (18–39 years), middle-aged (40–64 years), and elderly (≥65 years). Multivariable Cox regression models were used to evaluate mortality risk.

Results:

A total of 1032 young, 8336 middle-aged, and 13,315 elderly patients were included. Median follow-up was 36 (14–69) months. The young group had more black individuals, lower socioeconomic scores, larger left ventricular chambers, but lower N-terminal pro b-type natriuretic peptide levels (P < 0.001). Better survival outcomes were observed in the young compared to the middle-aged [hazard ratio (HR), 1.52; 95% confidence interval (CI), 1.31–1.77] and elderly (HR, 3.19; 95% CI, 2.75–3.70). After multivariable adjustments, only β-blockers were associated with a significant reduction of mortality in young patients (HR, 0.33; 95% CI, 0.22–0.51).

Conclusion:

In conclusion, young patients with heart failure with reduced ejection fraction have distinct demographic, clinical, and echocardiographic characteristics. They had lower socioeconomic status yet received more aggressive treatments and had lower mortality rates. Only β-blockers were associated with improved survival in young patients from our cohort.
Brain moderators supporting the relationship between depressive mood and pain
Authors: Adler-Neal Adrienne L. , Emerson Nichole M. , Farris Suzan R. , Jung Youngkyoo , Coghill Robert C. , Zeidan Fadel
Published: May 2019

Pain and depressive mood commonly exhibit a comorbid relationship. Yet, the brain mechanisms that moderate the relationship between dysphoric mood and pain remain unknown. An exploratory analysis of functional magnetic resonance imaging, behavioral, and psychophysical data was collected from a previous study in 76 healthy, nondepressed, and pain-free individuals. Participants completed the Beck Depression Inventory-II (BDI), a measure of negative mood/depressive symptomology, and provided pain intensity and pain unpleasantness ratings in response to noxious heat (49°C) during perfusion-based, arterial spin–labeled functional magnetic resonance imaging. Moderation analyses were conducted to determine neural mechanisms involved in facilitating the hypothesized relationship between depressive mood and pain sensitivity. Higher BDI-II scores were positively associated with pain intensity (R
2 = 0.10; P = 0.006) and pain unpleasantness (R
2 = 0.12; P = 0.003) ratings. There was a high correlation between pain intensity and unpleasantness ratings (r = 0.94; P < 0.001); thus, brain moderation analyses were focused on pain intensity ratings. Individuals with higher levels of depressive mood exhibited heightened sensitivity to experimental pain. Greater activation in regions supporting the evaluation of pain (ventrolateral prefrontal cortex; anterior insula) and sensory-discrimination (secondary somatosensory cortex; posterior insula) moderated the relationship between higher BDI-II scores and pain intensity ratings. This study demonstrates that executive-level and sensory-discriminative brain mechanisms play a multimodal role in facilitating the bidirectional relationship between negative mood and pain.
What is normal trauma healing and what is complex regional pain syndrome I? An analysis of clinical and experimental biomarkers
Authors: Dietz Christopher , Müller Maike , Reinhold Ann-Kristin , Karch Lisa , Schwab Bernhard , Forer Lukas , Vlckova Eva , Brede Elmar-Marc , Jakubietz Rafael , Üçeyler Nurcan , Meffert Rainer , Bednarik Josef , Kress Michaela , Sommer Claudia , Dimova Violeta , Birklein Frank , Rittner Heike L.
Published: May 2019

Complex regional pain syndrome (CRPS) typically develops after fracture or trauma. Many of the studies so far have analyzed clinical and molecular markers of CRPS in comparison with healthy or pain controls. This approach, however, neglects mechanisms occurring during physiological trauma recovery. Therefore, we compared the clinical phenotype, sensory profiles, patient-reported outcomes, and exosomal immunobarrier microRNAs (miRs) regulating barrier function and immune response between CRPS and fracture controls (FCs) not fulfilling the CRPS diagnostic criteria. We included upper-extremity FCs, acute CRPS I patients within 1 year after trauma, a second disease control group (painful diabetic polyneuropathy), and healthy controls. Fracture controls were not symptoms-free, but reported some pain, disability, anxiety, and cold pain hyperalgesia in quantitative sensory testing. Patients with CRPS had higher scores for pain, disability, and all patient-reported outcomes. In quantitative sensory testing, ipsilateral and contralateral sides differed significantly. However, on the affected side, patients with CRPS were more sensitive in only 3 parameters (pinprick pain and blunt pressure) when compared to FCs. Two principal components were identified in the cohort: pain and psychological parameters distinguishing FC and CPRS. Furthermore, the immunobarrier-protective hsa-miR-223-5p was increased in plasma exosomes in FCs with normal healing, but not in CRPS and healthy controls. Low hsa-miR-223-5p was particularly observed in subjects with edema pointing towards barrier breakdown. In summary, normal trauma healing includes some CRPS signs and symptoms. It is the combination of different factors that distinguish CRPS and FC. Fracture control as a control group can assist to discover resolution factors after trauma.
The effect of extracorporeal shock wave therapy on the treatment of moderate to severe knee osteoarthritis and cartilage lesion
Authors: Xu Yongming , Wu Kun , Liu Yu , Geng Huan , Zhang Haochong , Liu Shuitao , Qu Hongying , Xing Gengyan
Published: May 2019

Background:

Knee osteoarthritis (KOA) is a major cause leading to chronic bone and muscle pain. Extracorporeal shock wave therapy (ESWT) has been applied in treating KOA in recent years.

Methods:

From April 2016 to April 2017, 82 patients were diagnosed with KOA that received ESWT were selected as the ESWT group. The treatment parameters were as follows, 2.0 bar, 0.25 mJ/mm2, and 8 Hz/s for twice a week for 4 weeks continuously. In addition, 104 patients receiving oral administration of nonsteroidal anti-inflammatory drugs (NSAIDs) from April 2015 to April 2016 were also selected as the NSAIDs group. At 4, 8, 12, and 16 weeks upon the completion of treatment, the Visual Analogue Scale (VAS) and Western Ontario and McMaster Universities Arthritis Index (WOMAC) were adopted to evaluate the changes in pain and function of patients in both groups. For the ESWT group, the 50-m quick walk time and gait analysis were applied to observe the functional recovery at 4, 8, 12, and 16 weeks upon the completion of treatment; meanwhile, patients were followed up by magnetic resonance imaging (MRI) at 24 weeks upon the completion of treatment, so as to observe the cartilage changes.

Results:

Differences in VAS, 4, 8, and 12 weeks after treatment were statistically significant compared with that before treatment (4.59 ± 0.5, P < .05; 2.55 ± 0.5, P < .05; 4.39 ± 0.49, P < .05). Differences in 4, 8, and 12 weeks after treatment were statistically significant compared with that before treatment (90.41 ± 6.64, P < .05; 59.94 ± 3.19, P < .05; 90.49 ± 6.87, P < .05). Gait analysis suggested differences in 50 m walk time, walking speed, swing phase, and stance phase 8 weeks after treatment were statistically significant compared with that before treatment (36.23 ± 4.08, P < .05; 1.25 ± 0.09, P < .05; 58.56 ± 0.87, P < .05; 41.44 ± 0.87, P < .05). Differences in the VAS and WOMAC at 4 and 8 weeks after treatment between ESWT group and NASIDs group were not statistically significant.

Conclusions:

The ESWT has potential in reducing pain and improving knee function, and the therapeutic effects may peak at 8 weeks after the completion of treatment. Further research is needed to arrive at a definitive conclusion.
Mining and validating the expression pattern and prognostic value of acetylcholine receptors in non-small cell lung cancer
Authors: Ma Guoyuan , Ji Delin , Qu Xiao , Liu Shaorui , Yang Xudong , Wang Guanghui , Liu Qi , Du Jiajun
Published: May 2019

Acetylcholine receptors (AChRs), including nicotinic acetylcholine receptors (nAChRs) and muscarinic acetylcholine receptors (mAChRs), are highly expressed in bronchial epithelial cells.

We used The Cancer Genome Atlas (TCGA) data set to evaluate the expression pattern and prognostic value of the AChR gene family in non-small cell lung cancer (NSCLC). The mined data was validated by quantitative real-time polymerase chain reaction (qRT-PCR) and immunohistochemistry (IHC).

The survival analysis of TCGA data set showed that only CHRNA7 in the AChR gene family affected prognosis in both lung adenocarcinoma and lung squamous cell carcinoma. Furthermore, qRT-PCR proved that CHRNA7 was significantly upregulated in tumor tissues compared with matched normal tissues at mRNA level (P = .001). The expression level of α7 nAChR (encoded by CHRNA7) in 141 patients was measured by IHC and a high expression of α7 nAChR was associated with unfavorable prognosis (P = .008). Multivariate analysis showed that α7 nAChR was an independent prognostic factor (HR = 2.041; 95% CI 1.188-3.506; P = .007).

α7 nAChR was upregulated in NSCLC and was associated with unfavorable prognosis. This gene may be a potential target for lung cancer treatment.
Retinal and choroidal abnormalities identified by multispectral imaging in patients with uveitis
Authors: Feng Lei , Fan Gong-Lin , Zhang Jie , Wang Xiao , Zhu Jiang
Published: May 2019

Introduction:

Multispectral imaging (MSI) shows increasing strengths in detection of retinal and choroidal disease. The aim of this study was to evaluate the capacity of javascript:void(0), detecting retinal and choroidal abnormalities of uveitis which have not been described previously.

Patient concerns:

The first case was a 49-year-old male patient who presented with visual disturbance and metamorphopsia in both eyes for 5 days, companying by a history of headache and hearing loss recently. The second case was related to a 45-year-old female patient who complained of blurred vision and a dark shadow before her right eye for 3 months. The third case corresponded to a 36-year-old male patient who presented with blurred vision and slight pain in his left eye for >1 week, and his blood tested positive for syphilis.

Diagnosis:

Three Chinese patients with representative kind of uveitis were described in the study, including Vogt–Koyanagi–Harada syndrome, posterior uveitis with choroidal neovascularization, and syphilis-infected uveitis. Each affected eye had corresponding retinal and choroidal abnormalities evaluated by multiple ophthalmologic examinations.

Interventions:

Case 1 was treated with oral prednisone at a dose of 1 mg/kg/d started at the early stage and then slowed tapering of the prednisone dose based on follow-up examinations. Case 2 received anti-VEGF treatment. Case 3 received the standard treatment for neurosyphilis.

Outcomes:

Due to timely diagnosis and treatment, all patients had a better prognosis.

Conclusion:

MSI provides a novel way to view retinal and choroidal abnormalities of uveitis, and may provide a supplemental method to morphological changes.
Treatment of open chest rib fractures with the matrix rib internal fixation system
Authors: Feng Kan , Yin Degang , Zheng Wujun , Yu Xiaojun
Published: May 2019

Rationale:

Rib fractures are common among patients with blunt chest wall trauma and often represent life-altering injuries.

Patient concerns:

A 31-year-old woman presented with right chest trauma, with pain and bleeding as a result of a traffic accident 1 hour previously.

Diagnoses:

Chest computed tomography showed open chest trauma, multiple rib fractures, flail chest, hemopneumothorax, and lung contusion on the right side.

Interventions:

We decided to perform debridement via emergency, thoracoscopic exploration to remove blood and contaminants from the chest cavity. Thereafter, the third to seventh fractured ribs were fixed and reconstructed using the matrix rib internal fixation system, followed by suturing of the incision according to the original anatomical level.

Outcomes:

The patient was discharged 15 days after surgery, and recovered well with satisfactory results.

Lessons:

We believe that initial chest reconstruction with internal fixation in the first stage following thorough debridement may be suitable for treating flail chest, and could save the patient's life in the early stages. However, the decision to perform the first-stage operation for the open contaminated wound should be carefully considered.
Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification
Authors: Long Xigui , Li Zhuo , Huang Yanru , Zhang Li , Lv Weigang , Teng Yanling , Linpeng Siyuan , Liang Desheng , Wu Lingqian
Published: May 2019

Rationale:

Hereditary multiple exostoses (HMEs) is an autosomal dominant skeletal disorder.

Patient concerns:

Six probands of the 6 unrelated Han Chinese families were identified as having HME. These patients had exostoses at multiple sites and significantly affected joints malformation and movement.

Diagnoses:

Hereditary multiple exostoses.

Interventions:

To detect the genetic mechanism of HME in 6 unrelated Chinese families, whole-exome sequencing (WES) and multiplex ligation-dependent probe amplification (MLPA) were used after genomic DNA was isolated from peripheral blood leucocytes. Point mutations identified by these methods were verified by Sanger sequencing after PCR amplification.

Outcomes:

Six mutations in the EXT1 and EXT2 genes were identified, including a heterozygous deletion mutation from exon 2 to exon 8 (Family 1), a c.448C>T, p.(Gln150X) heterozygous nonsense mutation (Family 4), a c.1057-2A>T heterozygous splicing substitution (Family 5), and a c.1468dupC, p.(Leu490fs519X) (Family 6) heterozygous duplication mutation in the EXT1 gene in addition to a heterozygous deletion mutation from exon 2 to exon 3 (Family 2) and a c.1197C>G, p.(Tyr399X) heterozygous nonsense mutation (Family 3) in the EXT2 gene.

Lessons:

Overall, we identified 5 novel mutations and 1 recurrent mutation in the EXT1 and EXT2 genes in 6 Chinese families with HME. Our findings expand the mutational spectrum of the EXT1 and EXT2 genes and are useful for genetic counseling and prenatal diagnosis.
Scrambler therapy for the treatment of diabetic peripheral neuropathy pain
Authors: Lee Yeon Sil , Park Min Ki , Park Hahck Soo , Kim Won-Joong
Published: May 2019

Rationale:

Neuropathy secondary to diabetes mellitus often does not respond well to conventional therapy. Scrambler therapy may be an alternative treatment for otherwise intractable neuropathy.

Patient concerns:

A 45-year-old female complained of bilateral plantar foot pain. She had been treated for diabetes mellitus for 5 years. Oral analgesics did not resolve her pain. Even nerve block therapy did not adequately relieve her pain.

Diagnoses:

Diabetic peripheral neuropathy.

Intervention:

Scrambler therapy.

Outcome:

Pain reduction; the treatment effect was based around the location of the scrambler patch.

Lessons:

Scrambler therapy is effective for the treatment of diabetic peripheral neuropathy. Moreover, effective pain management can be achieved for patients who complain of general pain of the sole, including the toe, by attaching scrambler patches around the ankle.
Associations between serum apolipoproteins, urinary albumin excretion rate, estimated glomerular filtration rate, and diabetic retinopathy in individuals with type 2 diabetes
Authors: Chung Jin Ook , Park Seon-Young , Cho Dong Hyeok , Chung Dong Jin , Chung Min Young
Published: May 2019

The published data regarding the role of serum apolipoprotein (apo) A-I, apoB, and the apoB/A-I ratio in the risk of diabetic retinopathy remain inconsistent, and there is limited information about the effect of renal status on their associations in individuals with type 2 diabetes. The aim of this study was to investigate whether serum apoA-I, apoB, and the apoB/A-I ratio are associated with the presence of diabetic retinopathy in type 2 diabetes and to explore whether the relationships between these apolipoproteins and diabetic retinopathy are modified by urinary albumin excretion rate (UACR) and estimated glomerular filtration rate (eGFR).

In total, 1215 individuals with type 2 diabetes were included in this cross-sectional study. Serum levels of apoA-I and apoB and the apoB/apoA-I ratio were measured. A logistic regression model was performed to explore associations of apolipoproteins with retinopathy.

Individuals with diabetic retinopathy had significantly lower levels of serum apoA-I and higher apoB/apoA-I ratio than those without diabetic retinopathy. In the multivariable analyses, the associations between apoA-I and diabetic retinopathy and between the apoB/apoA-I ratio and diabetic retinopathy were statistically significant after adjustment for the traditional risk factors (odds ratio [OR] per standard deviation [SD] increase in the log-transformed value; 0.55, 95% confidence interval (CI); 0.32 to 0.97, P = .038; OR per SD increase in the log-transformed value; 2.83, 95% CI; 1.18 to 6.76, P = .019; respectively). Additional adjustments for UACR or eGFR removed the significant associations.

In individuals with type 2 diabetes, serum apoA-I and the apoB/apoA-I ratio are associated with presence of diabetic retinopathy, which might be attributable to the correlated changes in UACR and eGFR.
Autoimmune encephalitis with anti-IgLON5 and anti-GABAB-receptor antibodies
Authors: Chung Ha-Yeun , Wickel Jonathan , Voss Annika , Ceanga Mihai , Sell Josefine , Witte Otto W. , Geis Christian
Published: May 2019

Rationale:

Anti-IgLON5 disease is a complex neurological illness which is characterized by progressive sleep and movement disorders and defined by specific autoantibodies to IgLON5. We here describe the first case of a patient with coexisting anti-IgLON5 as well as anti-γ-aminobutyric acid B (GABAB)-receptor antibodies and predominant clinical features of anti-IgLON5 disease.

Patient concerns:

The patient initially presented with subacute symptoms of severe sleep disorder, gait stability, dysarthria, cognitive impairment, depressive episode and hallucinations.

Diagnoses:

The patient was diagnosed with autoimmune encephalitis, based on clinical features and positive anti-IgLON5 antibodies in serum as well as in cerebrospinal fluid and anti-GABAB-receptor antibodies in serum only.

Interventions:

Initially, the patient was treated with high dosages of methylprednisolone and subsequently with plasmapheresis. Due to the lack of clinical improvement immunosuppressive treatment with intravenous cyclophosphamide was initiated.

Outcomes:

Following the first year of cyclophosphamide treatment, neurological examination revealed an improvement in gait instability, visual and acoustic hallucinations and sleep disorder.

Lessons:

The case report demonstrates that anti-IgLON5 and anti-GABAB-receptor antibodies can coexist in the same patient whereas clinical leading symptoms are determined by those antibodies that were tested positive in cerebrospinal fluid.
Association between outdoor air pollution and semen quality
Authors: Zhang Jianzhong , Cai Zhonglin , Yang Bin , Li Hongjun
Published: May 2019

Background:

Various studies have explored the association between outdoor air pollution and semen quality. However, the results were still controversial. The object of the current meta-analysis is to evaluate the role of outdoor air pollution in semen quality.

Methods:

Databases including PubMed, Web of Science, and Embase will be searched to identify qualified studies. All qualified cross-sectional studies researching the association between outdoor air pollution and sperm parameters will be included. Relative data in participants under higher exposure and lower exposure to air pollution will be extracted by 2 investigators independently. Only participants under the highest and the lowest exposure will be enrolled if the original study contained more than 2 exposure levels. The semen volume, sperm concentration, progressive motility, total motility, and normal morphology rate will be the primary outcomes of the current study. Pooled estimates with corresponding 95% confidence intervals will be calculated to assess the specific effects of outdoor air pollution in semen quality. Moreover, trial sequential analyses will be performed to obtain a more comprehensive assessment of analyses.

Results:

A high-quality synthesis of the current evidence for the association between sperm parameters and outdoor air pollution will be provided.

Conclusions:

This meta-analysis and systematic review will generate evidence for judging whether outdoor air pollution can impair semen quality.

PROSPERO registration number:

PROSPERO CRD 42019126060
KLHL3 single-nucleotide polymorphism is associated with essential hypertension in Chinese Han population
Authors: Li Jin , Hu Jing , Xiang Dingcheng , Ji Bo , Xu Suowen , Shi Lei , Zhao Shujin
Published: May 2019

Hypertension, including secondary and essential hypertension (EH) variants, is a multifactorial disease, affecting more than one billion people worldwide. Secondary hypertension results from mutations in the putative gene KLHL3 (Kelch-like protein 3); however, it has not been reported whether the KLHL3 gene polymorphisms are associated with EH. Here, we investigated the association between KLHL3 (rs2301708 and rs7444370) polymorphisms and EH in the Chinese Han population.

This case–control study included 522 subjects—260 patients with EH and 262 normotensive controls matched for age, gender, body mass index (BMI), hemoglobin A1c (HbA1c), total cholesterol (TC), triglyceride (TG), and levels of Na+, K+, and Cl−. The distribution of functional rs2301708 and rs7444370 polymorphisms within the KLHL3 gene was assessed through polymerase chain reaction (PCR) and restriction-fragment length polymorphism (RFLP).

There was no significant difference in allelic and genotypic frequencies of KLHL3 rs2301708 between the EH and normotensive groups; however, the rs7444370 T allele and CT genotype in females was significantly associated with a protective effect against EH (P = .001, P = .002; P = .019, P = .052), and the haplotype CT of rs2301708 and rs7444370 among females in the EH group was less than in the normotensive group (P = .000; P = .007).

The KLHL3 rs7444370 variant could be a protective factor in the pathogenesis of females’ EH.
Health Information–seeking Behaviors and Preferences of a Diverse, Multilingual Urban Cohort
Authors: Khoong Elaine C. , Le Gem M. , Hoskote Mekhala , Rivadeneira Natalie A. , Hiatt Robert A. , Sarkar Urmimala
Published: May 2019

Introduction:

In order to address health disparities, it is important to understand how vulnerable individuals seek information. This study used an adapted version of the Health Information National Trends Survey (HINTS) administered in English, Spanish, and Chinese to describe the behaviors and preferences of a diverse group of vulnerable urban residents.

Methods:

We administered a modified HINTS survey in English, Spanish, and Chinese and used purposive sampling to ensure 50% were non-English speakers evenly divided between Spanish and Chinese speakers, and 50% of English-speakers identified as Black. We used multivariable logistic regression to determine characteristics associated with sources used for health information and preferences for delivery of health information.

Results:

Among 1027survey respondents (514 English, 256 Spanish, 260 Chinese), 55% had adequate health literacy, and 50% reported household income <$20,000, but 77% reported owning a smartphone. A plurality sought health information on the Internet (39%) or from a health care provider (36%). In multivariable analyses, smartphone ownership predicted higher odds of seeking health information on the Internet [odds ratio, (OR) 2.98; 95% confidence interval (CI), 1.81–4.91]. Participants most preferred email (41%) and brochures (40%) for delivery of health information, but non-English survey respondents were less likely to prefer email: Spanish (OR, 0.30; 95% CI, 0.11–0.83) and Chinese (OR, 0.25; 95% CI, 0.09–0.71). Smartphone ownership predicted an email preference (OR, 2.19; 95% CI, 1.43–3.36).

Conclusions:

Among vulnerable populations, smartphone ownership and language preferences impact preferences for seeking and receiving health information. These preferences need to be considered in designing health messages.