bluuebunny/crossref_metadata_2025 huggingface dataset:
Significance of the Acromiohumeral Distance on Stress Radiography for Predicting Healing and Function after Arthroscopic Repair of Massive Rotator Cuff Tears (231)
Authors: Jeon Young Dae , Jeong Hyeon Jang , Oh Joo Han
Published: October 2021

Objectives:

Decreased acromiohumeral distance (AHD) is commonly detected in massive rotator cuff tears (mRCT). Most studies evaluating fixed humeral elevation have used preoperative or postoperative standardized radiography, and not stress radiography. We aimed to evaluate the role of preoperative AHD using stress radiography for healing and function after arthroscopic repair of mRCT.

Methods:

We analyzed the data of 113 patients who underwent arthroscopic repair of mRCT, whose postoperative cuff integrity was evaluated using magnetic resonance imaging at 1 year and whose functions were evaluated at a mean of 34.9 ± 17.8 months. Forty-seven patients showed healing failure. Propensity score matching (1-to-1) was performed between the healed and healing failure groups. 38 patients in each group were matched in the final analysis. We defined AHD and AHD_stress as the shortest distances from the inferior acromion to the superior humerus on standard anteroposterior and stress radiography (5.4 kg weight applied inferiorly in a neutral position), respectively. AHD difference (AHD_diff) was defined as the difference between AHD and AHD_stress.

Results:

There was no difference in the mean preoperative AHD between the healed (7.5 ± 2.0) and healing failure groups (6.9 ± 2.2, p = 0.234). AHD_diff was significantly higher in the healed (4.4 ± 2.1mm) than in the healing failure group (3.0 ± 2.0 mm, p = 0.002: cutoff, 3.2 mm). Patients with AHD_diff ≥3.2 mm showed lower healing failure (28.9% vs 71.1%, p < 0.001) and higher functional scores than those with AHD_diff <3.2 mm. AHD_diff was higher in the American Shoulder and Elbow Surgeons (ASES) ≥80 (4.9 ± 1.9 mm) than in the ASES <80 group (3.1 ± 2.1 mm, p = 0.024). Only postoperative AHD was related to postoperative functions (cutoff, 4.8 mm, p = 0.009) in the healing failure group.

Conclusions:

The AHD_diff measured using preoperative stress radiography can be another predictor of rotator cuff healing and function after arthroscopic repair of mRCT and would be helpful to determine appropriate treatment strategies.
Long Term Outcomes of Anterior Shoulder Instability in Throwers and Overhead Athletes at a Mean Follow-up of 15 years (240)
Authors: Shirley Matthew , Nauert Richard , Wilbur Ryan , LaPrade Matthew , Bernard Christopher , Song Bryant , Leland Devin , Krych Aaron , Camp Christopher
Published: October 2021

Objectives:

There is a paucity of literature regarding outcomes of anterior shoulder instability (ASI) in throwers and overhead athletes (OHA). The purpose of this study was to report the pathology, treatment strategies, and outcomes of ASI in throwers and overhead athletes utilizing an established US geographic population-based cohort.

Methods:

An established geographic database of more than 500,000 patients was used to identify athletes <40 years of age with ASI between 1994 and 2016. Medical records were reviewed to obtain demographics, type of sport, surgical details, and clinical outcomes. Patients were contacted after final clinical follow-up for patient reported outcomes (PRO). The Western Ontario Shoulder Instability (WOSI) score, return to sport at previous level of performance (RPP), rate of return to play (RTP) and time to RTP were recorded. Statistical analysis was performed comparing throwers to non-throwers and OHA to non-overhead athletes (NOHA).

Results:

The study population consisted of 171 patients, 114 NOHA and 57 OHA. Of the OHA, 40 were throwers. The mean follow-up was 14.7 ± 5.6 years for PRO’s and 11.7 ± 7.3 years for last clinical evaluation. No difference in overall instability events was seen in either group. Throwers were more likely to present with subluxations while non-throwers were more likely to present with frank dislocations. NOHA and non-throwers were more likely than OHA and throwers to have a history of trauma related to ASI, respectively ( P = <.001, P = .002). Throwers were more likely to undergo an open surgical procedure (45%) than non-throwers (15%) ( P = .038). The rate of recurrent instability between groups was similar. Throwers returned to sport at a lower rate than non-throwers, however this did not reach significance (64% vs 83%, P = .100). Throwers and OHA reported similar WOSI scores, RPP and time to RTP grouped by surgical or conservative management compared to non-throwers and NOHA, respectively.

Conclusions:

In a US cohort of patients, throwers and OHA had a similar number of instability events compared to non-throwers and NOHA, respectively. Non-throwers and NOHA were more likely to present with frank dislocation which is supported by the significantly higher rates of trauma in both groups. Notably, the WOSI score, RPP, rate of RTP and time to RTP showed no difference between throwers and OHA when compared to their non-throwing and NOHA counterparts.
Primary versus revision arthroscopic bridging reconstruction using dermal allograft: a clinical and radiographic analysis (243)
Authors: Wong Ivan , Sparavalo Sara , Ma Jie , Alkhatib Nedal
Published: October 2021

Objectives:

Large or massive rotator cuff tears make up between 10-40% of all rotator cuff tears, yet there is no agreement on the best treatment. Previous studies have shown that acellular human dermal allograft (AHDA) can be used for bridging reconstruction with positive patient outcomes. The use of this surgical technique has not been extensively studied in the primary or revision surgical setting. The main objective of this study was to compare the clinical and radiographic outcomes of patients who received primary or revision arthroscopic bridging reconstruction.

Methods:

This study is a retrospective review of a sequential series of patients who underwent arthroscopic bridging reconstruction (ABR) using AHDA by the primary author (IW). A total of 130 patients underwent ABR between 2010 and 2018. The inclusion criteria were patients with completed Western Ontario Rotator Cuff (WORC) questionnaire, Disabilities of the Arm, Shoulder, and Hand (DASH) score, or both pre-operatively and at multiple post-operative timepoints. Patients with missing WORC scores were excluded from the study. Eighty-three patients were included following chart review. Patients with available post-operative MRIs were also used for radiological assessment by an independent MSK-trained radiologist. Post-operative MRIs were reviewed to assess for graft integrity and changes to rotator cuff muscle atrophy (using the Warner classification) and fatty degeneration (using the Goutallier classification).

Results:

There were 46 patients who received primary ABR and 37 who received revision ABR. Forty-eight patients had a post-operative MRI available for review (Primary: 25; Revision: 23). The demographics are summarized in Table 1. Both groups showed a significant improvement in WORC score post-operatively (p<0.001). Primary ABR resulted in higher post-operative WORC scores as compared to revision ABR (p=0.015; Figure 1). The incidence of complete re-tears in the primary group was 8% and 17.4% in the revision group. More than 35% of patients in the primary group showed improvement in fatty infiltration of the infraspinatus and supraspinatus muscles. There was a higher progression in muscle atrophy in the revision group as compared to the primary group (74% and 30%, respectively).

Conclusions:

Arthroscopic primary arthroscopic bridging reconstruction for large/massive rotator cuff tears using acellular human dermal allograft had better improvement in their WORC scores compared to revision group at the final follow-up. Although the revision group had improved at the two-year follow-up, these changes in WORC score were not sustained at the final follow-up while the improvements were maintained for the primary group. The primary group had a smaller re-tear rate, better fatty infiltration and muscle atrophy as compared to the revision group. This suggests that primary bridging reconstruction provides better outcomes than a revision surgery.
Can You Hear Me Now? Attorney Perceptions of Interpretation, Technology, and Power in Immigration Court
Authors: Barak Maya P
Published: October 2021

The Executive Office for Immigration Review houses America's trial-level immigration courts, which adjudicate hundreds of thousands of cases annually, many resulting in deportations. Most proceedings require interpretation and all rely heavily upon technology. Yet, we know little about communication and technology in these hearings, and even less about the views of attorneys who navigate this system daily. I examine the effects courtroom interpretation and technology have on immigrant voices as described in interviews with immigration attorneys representing clients facing deportation. Attorneys overwhelmingly characterize the court as procedurally unjust, pinpointing how flaws in interpretation, telephonic conferencing, and videoconferencing offer the illusion of due process. Drawing upon criminology, legal sociology, and linguistics, this study finds profound improvements are needed to ensure due process in the nation's immigration courts, including: Elimination of telephonic and videoconferencing in all but extreme circumstances. Modernization of telephonic and videoconference technology. Improvement of interpreter standards and working conditions. Education of attorneys, judges, and interpreters regarding challenges inherent to courtroom interpretation and technology. Although enhancing the quality of interpretation and technology protocols may improve immigrants’ access to justice in immigration court, meaningful immigration court reforms should reduce the need for an immigration court altogether.
In the Asia-Pacific region, the COI DNA test revealed the divergence of the bivalve mollusc Mactra chinensis into three species; can these species be distinguished using shell coloration and sperm structure?
Authors: Reunov Arkadiy , Lutaenko Konstantin , Vekhova Evgenia , Zhang Junlong , Zakharov Evgeny , Sharina Svetlana , Alexandrova Yana , Reunova Yulia , Akhmadieva Anna , Adrianov Andrey
Published: October 2021

According to COI DNA barcoding testing, the marine bivalve mollusc Mactra chinensis, which is native to the Asia-Pacific region, diverged into three species. These species were preliminary characterized as M. chinensis COI clade I, M. chinensis COI clade II and M. chinensis COI clade III. To find out whether it is possible to morphologically distinguish samples representing genetic clades, we examined the color of the shells and the structure of the spermatozoa. It was found that the number of detected coloration types exceeds the number of detected species. In addition, it was shown that individuals belonging to the same genetic clade can have shells of different colors. Consequently, it is impossible to choose one type of shell coloration as a species-specific trait. For sperm, the sperm morphological patterns found in each of the three species are consistent with the M. chinensis sperm model described in previous reports. However, the single sperm variant is also not applicable to discriminate between species derived from M. chinensis, since heterogeneous variants of spermatozoa differing in the length of the acrosomal rod were found. We hypothesized that genetic divergence of species could cause a shift towards predominance of one of the sperm variants, and that species-specific sperm morphs could be quantitatively dominant in molluscs belonging to different clades. However, the dominant sperm morphs were the same in COI clade I and COI clade III. Thus, dominant sperm morphs are useless as species-specific traits. However, shell color and sperm parameters are specific to different geographic regions, and it seems that unique environmental factors can determine shell color and sperm morphology. As a result, both shells and spermatozoa can be used to distinguish the geographical forms of M. chinensis, regardless of the belonging of the forms to a particular genetic clade. Here we propose the introduction of geographic identifiers, in which the shell color and parameters of sperm sets are used as morphological criteria to determine the geographical origin of mollusc specimens belonging to the M. chinensis species complex.
Characterization of the gut microbiome in a porcine model of thoracic spinal cord injury
Authors: Doelman Adam , Tigchelaar Seth , McConeghy Brian , Sinha Sunita , Keung Martin S. , Manouchehri Neda , Webster Megan , Fisk Shera , Morrison Charlotte , Streijger Femke , Nislow Corey , Kwon Brian K.
Published: October 2021

Background

The gut microbiome is a diverse network of bacteria which inhabit our digestive tract and is crucial for efficient cellular metabolism, nutrient absorption, and immune system development. Spinal cord injury (SCI) disrupts autonomic function below the level of injury and can alter the composition of the gut microbiome. Studies in rodent models have shown that SCI-induced bacterial imbalances in the gut can exacerbate the spinal cord damage and impair recovery. In this study we, for the first time, characterized the composition of the gut microbiome in a Yucatan minipig SCI model. We compared the relative abundance of the most dominant bacterial phyla in control samples to those collected from animals who underwent a contusion-compression SCI at the 2nd or 10th Thoracic level.

Results

We identify specific bacterial fluctuations that are unique to SCI animals, which were not found in uninjured animals given the same dietary regimen or antibiotic administration. Further, we identified a specific time-frame, “SCI-acute stage”, during which many of these bacterial fluctuations occur before returning to “baseline” levels.

Conclusion

This work presents a dynamic view of the microbiome changes that accompany SCI, establishes a resource for future studies and to understand the changes that occur to gut microbiota after spinal cord injury and may point to a potential therapeutic target for future treatment.
Identification of defense related gene families and their response against powdery and downy mildew infections in Vitis vinifera
Authors: Goyal Neetu , Bhatia Garima , Garewal Naina , Upadhyay Anuradha , Singh Kashmir
Published: October 2021

Background

Grapevine (Vitis vinifera) productivity has been severely affected by various bacterial, viral and fungal diseases worldwide. When a plant is infected with the pathogen, various defense mechanisms are subsequently activated in plants at various molecular levels. Thus, for substantiating the disease control in an eco-friendly way, it is essential to understand the molecular mechanisms governing pathogen resistance in grapes.

Results

In our study, we performed genome-wide identification of various defensive genes expressed during powdery mildew (PM) and downy mildew (DM) infections in grapevine. Consequently, we identified 6, 21, 2, 5, 3 and 48 genes of Enhanced Disease Susceptibility 1 (EDS1), Non-Race-specific Disease Resistance (NDR1), Phytoalexin deficient 4 (PAD4), Nonexpressor of PR Gene (NPR), Required for Mla-specified resistance (RAR) and Pathogenesis Related (PR), respectively, in the grapevine genome. The phylogenetic study revealed that V. vinifera defensive genes are evolutionarily related to Arabidopsis thaliana. Differential expression analysis resulted in identification of 2, 4, 7, 2, 4, 1 and 7 differentially expressed Nucleotide-binding leucine rich repeat receptor (NLR), EDS1, NDR1, PAD4, NPR, RAR1 and PR respectively against PM infections and 28, 2, 5, 4, 1 and 19 differentially expressed NLR, EDS1, NDR1, NPR, RAR1 and PR respectively against DM infections in V. vinifera. The co-expression study showed the occurrence of closely correlated defensive genes that were expressed during PM and DM stress conditions.

Conclusion

The PM and DM responsive defensive genes found in this study can be characterized in future for impelling studies relaying fungal and oomycete resistance in plants, and the functionally validated genes would then be available for conducting in-planta transgenic gene expression studies for grapes.
Genome-wide identification and expression analysis of the bHLH transcription factor family and its response to abiotic stress in foxtail millet (Setaria italica L.)
Authors: Fan Yu , Lai Dili , Yang Hao , Xue Guoxing , He Ailing , Chen Long , Feng Liang , Ruan Jingjun , Xiang Dabing , Yan Jun , Cheng Jianping
Published: October 2021

Background

Members of the basic helix-loop-helix (bHLH) transcription factor family perform indispensable functions in various biological processes, such as plant growth, seed maturation, and abiotic stress responses. However, the bHLH family in foxtail millet (Setaria italica), an important food and feed crop, has not been thoroughly studied.

Results

In this study, 187 bHLH genes of foxtail millet (SibHLHs) were identified and renamed according to the chromosomal distribution of the SibHLH genes. Based on the number of conserved domains and gene structure, the SibHLH genes were divided into 21 subfamilies and two orphan genes via phylogenetic tree analysis. According to the phylogenetic tree, the subfamilies 15 and 18 may have experienced stronger expansion in the process of evolution. Then, the motif compositions, gene structures, chromosomal spread, and gene duplication events were discussed in detail. A total of sixteen tandem repeat events and thirty-eight pairs of segment duplications were identified in bHLH family of foxtail millet. To further investigate the evolutionary relationship in the SibHLH family, we constructed the comparative syntenic maps of foxtail millet associated with representative monocotyledons and dicotyledons species. Finally, the gene expression response characteristics of 15 typical SibHLH genes in different tissues and fruit development stages, and eight different abiotic stresses were analysed. The results showed that there were significant differences in the transcription levels of some SibHLH members in different tissues and fruit development stages, and different abiotic stresses, implying that SibHLH members might have different physiological functions.

Conclusions

In this study, we identified 187 SibHLH genes in foxtail millet and further analysed the evolution and expression patterns of the encoded proteins. The findings provide a comprehensive understanding of the bHLH family in foxtail millet, which will inform further studies on the functional characteristics of SibHLH genes.
Comparative analysis of transcriptomic data shows the effects of multiple evolutionary selection processes on codon usage in Marsupenaeus japonicus and Marsupenaeus pulchricaudatus
Authors: Wang Panpan , Mao Yong , Su Yongquan , Wang Jun
Published: October 2021

Background

Kuruma shrimp, a major commercial shrimp species in the world, has two cryptic or sibling species, Marsupenaeus japonicus and Marsupenaeus pulchricaudatus. Codon usage analysis would contribute to our understanding of the genetic and evolutionary characteristics of the two Marsupenaeus species. In this study, we analyzed codon usage and related indices using coding sequences (CDSs) from RNA-seq data.

Results

Using CodonW 1.4.2 software, we performed the codon bias analysis of transcriptomes obtained from hepatopancreas tissues, which indicated weak codon bias. Almost all parameters had similar correlations for both species. The gene expression level (FPKM) was negatively correlated with A/T3s. We determined 12 and 14 optimal codons for M. japonicus and M. pulchricaudatus, respectively, and all optimal codons have a C/G-ending. The two Marsupenaeus species had different usage frequencies of codon pairs, which contributed to further analysis of transcriptional differences between them. Orthologous genes that underwent positive selection (ω > 1) had a higher correlation coefficient than that of experienced purifying selection (ω < 1). Parity Rule 2 (PR2) and effective number of codons (ENc) plot analysis showed that the codon usage patterns of both species were influenced by both mutations and selection. Moreover, the average observed ENc value was lower than the expected value for both species, suggesting that factors other than GC may play roles in these phenomena. The results of multispecies clustering based on codon preference were consistent with traditional classification.

Conclusions

This study provides a relatively comprehensive understanding of the correlations among codon usage bias, gene expression, and selection pressures of CDSs for M. japonicus and M. pulchricaudatus. The genetic evolution was driven by mutations and selection pressure. Moreover, the results point out new insights into the specificities and evolutionary characteristics of the two Marsupenaeus species.
SARS-CoV-2 surveillance in Italy through phylogenomic inferences based on Hamming distances derived from pan-SNPs, -MNPs and -InDels
Authors: Di Pasquale Adriano , Radomski Nicolas , Mangone Iolanda , Calistri Paolo , Lorusso Alessio , Cammà Cesare
Published: October 2021

Background

Faced with the ongoing global pandemic of coronavirus disease, the ‘National Reference Centre for Whole Genome Sequencing of microbial pathogens: database and bioinformatic analysis’ (GENPAT) formally established at the ‘Istituto Zooprofilattico Sperimentale dell’Abruzzo e del Molise’ (IZSAM) in Teramo (Italy) is in charge of the SARS-CoV-2 surveillance at the genomic scale. In a context of SARS-CoV-2 surveillance requiring correct and fast assessment of epidemiological clusters from substantial amount of samples, the present study proposes an analytical workflow for identifying accurately the PANGO lineages of SARS-CoV-2 samples and building of discriminant minimum spanning trees (MST) bypassing the usual time consuming phylogenomic inferences based on multiple sequence alignment (MSA) and substitution model.

Results

GENPAT constituted two collections of SARS-CoV-2 samples. The first collection consisted of SARS-CoV-2 positive swabs collected by IZSAM from the Abruzzo region (Italy), then sequenced by next generation sequencing (NGS) and analyzed in GENPAT (n = 1592), while the second collection included samples from several Italian provinces and retrieved from the reference Global Initiative on Sharing All Influenza Data (GISAID) (n = 17,201). The main results of the present work showed that (i) GENPAT and GISAID detected the same PANGO lineages, (ii) the PANGO lineages B.1.177 (i.e. historical in Italy) and B.1.1.7 (i.e. ‘UK variant’) are major concerns today in several Italian provinces, and the new MST-based method (iii) clusters most of the PANGO lineages together, (iv) with a higher dicriminatory power than PANGO lineages, (v) and faster that the usual phylogenomic methods based on MSA and substitution model.

Conclusions

The genome sequencing efforts of Italian provinces, combined with a structured national system of NGS data management, provided support for surveillance SARS-CoV-2 in Italy. We propose to build phylogenomic trees of SARS-CoV-2 variants through an accurate, discriminant and fast MST-based method avoiding the typical time consuming steps related to MSA and substitution model-based phylogenomic inference.
Phenotypic variation of floral organs in flowering crabapples and its taxonomic significance
Authors: Zhou Ting , Ning Kun , Zhang Wangxiang , Chen Hong , Lu Xiaoqing , Zhang Donglin , El-Kassaby Yousry A. , Bian Jian
Published: October 2021

Background

In angiosperms, phenotypic variation of floral organs is often considered as the traditional basis for the evolutionary relationship of different taxonomic groups above the species level. However, little is known about that at or below the species level. Here, we experimentally tested the phenotypic variation of Malus floral organs using combined methods of intraspecific uniformity test, interspecific distinctness analysis, principal component analysis, Pearson correlation analysis, and Q-type cluster analysis. The ancestor-inclined distribution characteristic analysis of Malus species and cultivars floral attributes was also carried out, so as to explore its taxonomic significance.

Results

15/44 phenotypic traits (e.g., flower shape, flower type, flower diameter, ...) were highly consistent, distinguishable, and independent and could be used as the basis for Malus germplasm taxonomy. The studied 142 taxa were divided into two groups (A, B) and five sub-groups (A1, A2, B1, B2, B3), with significantly variable floral phenotypic attributes between groups and within sub-groups. Malus natural species were relatively clustered in the same section (series) while homologous cultivars showed evidence of ancestor-inclined distribution characteristics. However, no significant correlation between the evolutionary order of sections (Sect. Docyniopsis → Sect. Chloromeles → Sect. Sorbomalus → Sect. Eumalus) and group/sub-groups (B3 → B2 → B1 → A).

Conclusions

Phenotypic variation of floral organs could better explore the genetic relationship between Malus taxa. The findings improved our cognition of floral phenotypic variation taxonomic significance under the species level.
Disseminated intravascular coagulation following air embolism during orthotropic liver transplantation: is this just a coincidence?
Authors: Arstikyte Karolina , Vitkute Gintare , Traskaite-Juskeviciene Vilma , Macas Andrius
Published: October 2021

Background

During orthotopic liver transplantation, venous air embolism may occur due to iatrogenic injury of the inferior vena cava. However, venous air embolism followed by coagulopathy is a rare event. In this case report, we discuss a possible connection between venous air embolism and disseminated intravascular coagulation.

Case presentation

A 37-year-old male patient with chronic hepatitis B- and C-induced liver cirrhosis was admitted for orthotopic liver transplantation. During the dissection phase of the surgery, arterial blood pressure, heart rate, saturation and end-tidal carbon dioxide levels suddenly decreased, indicating the occurrence of venous air embolism. After stabilizing the patient’s condition, various coagulation issues started developing. Venous air embolism-induced coagulopathy was handled by administering transfusions of various blood products. However, the patient’s condition continued to deteriorate leading to a complete asystole.

Conclusions

This is a rare case of venous air embolism-induced disseminated intravascular coagulation. The real connection remains unclear as disseminated intravascular coagulation for end-stage liver disease patients can be induced by various causes during different stages of liver transplantation. Certainly, both venous air embolism and coagulopathy were significant and led to an unfavorable outcome. Further studies are needed to better understand the possible mechanisms and correlation between these two life-threatening complications.
Predictors for participation in DNA self-sampling of childhood cancer survivors in Switzerland
Authors: Waespe Nicolas , Strebel Sven , Marino Denis , Mattiello Veneranda , Muet Fanny , Nava Tiago , Schindera Christina , Belle Fabien N. , Mader Luzius , Spoerri Adrian , Kuehni Claudia E. , Ansari Marc
Published: October 2021

Background

Research on germline genetic variants relies on enough eligible participants which is difficult to achieve for rare diseases such as childhood cancer. With self-collection kits, participants can contribute genetic samples conveniently from their home. Demographic and clinical factors were identified previously that influenced participation in mailed self-collection. People with pre-existing heritable diagnoses might participate differently in germline DNA collection which might render sampling biased in this group. In this nationwide cross-sectional study, we analysed predictive factors of participation in DNA self-collection including heritable diagnoses.

Methods

We identified childhood cancer survivors from the Swiss Childhood Cancer Registry for invitation to germline DNA self-sampling in September 2019. Participants received saliva sampling kits by postal mail at their home, were asked to fill them, sign an informed consent, and send them back by mail. Two reminders were sent to non-participants by mail. We compared demographic, clinical, and treatment information of participants with non-participants using univariable and multivariable logistic regression models.

Results

We invited 928 childhood cancer survivors in Switzerland with a median age of 26.5 years (interquartile range 19-37), of which 463 (50%) participated. After the initial send out of the sampling kit, 291 (63%) had participated, while reminder letters led to 172 additional participants (37%). Foreign nationality (odds ratio [OR] 0.5; 95%-confidence interval [CI] 0.4-0.7), survivors aged 30-39 years at study versus other age groups (OR 0.5; CI 0.4-0.8), and survivors with a known cancer predisposition syndrome (OR 0.5; CI 0.3-1.0) were less likely to participate in germline DNA collection. Survivors with a second primary neoplasm (OR 1.9; CI 1.0-3.8) or those living in a French or Italian speaking region (OR 1.3; CI 1.0-1.8) tended to participate more.

Conclusions

We showed that half of childhood cancer survivors participated in germline DNA self-sampling relying completely on mailing of sample kits. Written reminders increased the response by about one third. More targeted recruitment strategies may be advocated for people of foreign nationality, aged 30-39 years, and those with cancer predisposition syndromes. Perceptions of genetic research and potential barriers to participation of survivors need to be better understood.

Trial registration

Biobank:https://directory.bbmri-eric.eu/#/collection/bbmri-eric:ID:CH_HopitauxUniversitairesGeneve:collection:CH_BaHOP Research project: Clinicaltrials.gov:NCT04702321.
Factors affecting statin uptake among people living with HIV: primary care provider perspectives
Authors: Ober Allison J. , Takada Sae , Zajdman Deborah , Todd Ivy , Horwich Tamara , Anderson Abraelle , Wali Soma , Ladapo Joseph A.
Published: October 2021

Background

Cardiovascular disease (CVD) is a major cause of morbidity and mortality among people living with HIV (PLWH), but statin therapy, safe and effective for PLWH, is under-prescribed. This study examined clinic leadership and provider perceptions of factors associated with statin prescribing for PLWH receiving care in eight community health clinics across Los Angeles, California.

Methods

We conducted semi-structured telephone interviews with clinic leadership and providers across community health clinics participating in a larger study (INSPIRE) aimed at improving statin prescribing through education and feedback. Clinics included federally qualified health centers (N = 5), community clinics (N = 1) and county-run ambulatory care clinics (N = 2). Leadership and providers enrolled in INSPIRE (N = 39) were invited to participate in an interview. We used the Consolidated Framework for Implementation Research (CFIR) to structure our interview guide and analysis. We used standard qualitative content analysis methods to identify themes within CFIR categories; we also assessed current CVD risk assessment and statin-prescribing practices.

Results

Participants were clinic leaders (n = 6), primary care physicians with and without an HIV specialization (N = 6, N = 6, respectively), infectious diseases specialists (N = 12), nurse practitioners, physician assistants and registered nurses (N = 7). Ninety-five percent of providers from INSPIRE participated in an interview. We found that CVD risk assessment for PLWH is standard practice but that there is variation in risk assessment practices and that providers are unsure whether or how to adjust the risk threshold to account for HIV. Time, clinic and patient priorities impede ability to conduct CVD risk assessment with PLWH.

Conclusions

Providers desire more data and standard practice guidance on prescribing statins for PLWH, including estimates of the effect of HIV on CVD, how to adjust the CVD risk threshold to account for HIV, which statins are best for people on antiretroviral therapy and on shared decision-making around prescribing statins to PLWH. While CVD risk assessment and statin prescribing fits within the mission and workflow of primary care, clinics may need to emphasize CVD risk assessment and statins as priorities in order to improve uptake.
Nutrition assessment and geriatric associated conditions among free living elderly people in Birjand, East of Iran: a cross-sectional study
Authors: Hoseinzadeh-Chahkandak Fatemeh , Rahimlou Mehran , Salmani Fatemeh , Ansarifar Elham , Moodi Mitra , Sharifi Farshad , Zeinali Tayebeh
Published: October 2021

Background

Few data are available on the nutritional status of Iranian geriatric population. The present study aimed to determine the nutritional status of older adults’ population in Birjand, East of Iran.

Methods

The community-based cohort study was performed on older adults population (60 years and older) living in urban and rural areas of Birjand. The mini nutritional assessment (MNA) questionnaire was used to assess nutritional status. Anthropometric and biochemical evaluation were also performed for all of the participants.

Results

A total of 1417 geriatric person were enrolled in this study, which, most of them were female (51.9 %). According to MNA tool, most of the participants (73.3 %) had normal nutrition (MNA score ≥ 24). Malnourished (MNA score < 17) and at high risk of malnutrition (MNA score: 17- 23.5) were constituted 0.9 % and 25.8 % of the participants, respectively. Marital status, occupation, period of education and family member were associated with nutritional status. Multiple logistic regression showed that with increase of body mass index (BMI) (OR = 0.96), education years (OR = 0.95), hemoglobin (OR = 0.86) and lymphocyte (OR = 0.98), the odds of malnutrition decreased, but with increase of age the odds (1.03) of malnutrition is also elevated.

Conclusions

MNA could successfully forecast the risk of malnutrition and malnourished people. Sociodemographic factors are associated with the nutritional status.
Isolation and characterization of high affinity and highly stable anti-Chikungunya virus antibodies using ALTHEA Gold Libraries™
Authors: Pedraza-Escalona M. , Guzmán-Bringas O. , Arrieta-Oliva H. I. , Gómez-Castellano K. , Salinas-Trujano J. , Torres-Flores J. , Muñoz-Herrera J. C. , Camacho-Sandoval R. , Contreras-Pineda P. , Chacón-Salinas R. , Pérez-Tapia S. M. , Almagro J. C.
Published: October 2021

Background

More than 3 million infections were attributed to Chikungunya virus (CHIKV) in the 2014–2016 outbreak in Mexico, Central and South America, with over 500 deaths directly or indirectly related to this viral disease. CHIKV outbreaks are recurrent and no vaccine nor approved therapeutics exist to prevent or treat CHIKV infection. Reliable and robust diagnostic methods are thus critical to control future CHIKV outbreaks. Direct CHIKV detection in serum samples via highly specific and high affinity anti-CHIKV antibodies has shown to be an early and effective clinical diagnosis.

Methods

To isolate highly specific and high affinity anti-CHIKV, Chikungunya virions were isolated from serum of a patient in Veracruz, México. After purification and characterization via electron microscopy, SDS-PAGE and binding to well-characterized anti-CHIKV antibodies, UV-inactivated particles were utilized as selector in a solid-phase panning in combination with ALTHEA Gold Libraries™, as source of antibodies. The screening was based on ELISA and Next-Generation Sequencing.

Results

The CHIKV isolate showed the typical morphology of the virus. Protein bands in the SDS-PAGE were consistent with the size of CHIKV capsid proteins. UV-inactivated CHIKV particles bound tightly the control antibodies. The lead antibodies here obtained, on the other hand, showed high expression yield, > 95% monomeric content after a single-step Protein A purification, and importantly, had a thermal stability above 75 °C. Most of the antibodies recognized linear epitopes on E2, including the highest affinity antibody called C7. A sandwich ELISA implemented with C7 and a potent neutralizing antibody isolated elsewhere, also specific for E2 but recognizing a discontinuous epitope, showed a dynamic range of 0.2–40.0 mg/mL of UV-inactivated CHIKV purified preparation. The number of CHIKV particles estimated based on the concentration of E2 in the extract suggested that the assay could detect clinically meaningful amounts of CHIKV in serum.

Conclusions

The newly discovered antibodies offer valuable tools for characterization of CHIKV isolates. Therefore, the strategy here followed using whole viral particles and ALTHEA Gold Libraries™ could expedite the discovery and development of antibodies for detection and control of emergent and quickly spreading viral outbreaks.
Analysis of vascularization in thyroid gland nodes with superb microvascular imaging (SMI) and CD34 expression histology: a pilot study
Authors: Studeny Thomas , Kratzer Wolfgang , Schmidberger Julian , Graeter Tilmann , Barth Thomas F. E. , Hillenbrand Andreas
Published: October 2021

Background

The Doppler sonography technique known as "superb microvascular imaging" (SMI) is advancing sonographic micro vascularization imaging in various disciplines. In this study, we aimed to determine whether SMI could reliably reproduce the blood flow in thyroid nodes and whether malignancy could be diagnosed, based on vascularization properties. Immunhistochemical staining by CD34 and SMI where used to determine the vascularization of nodes in terms of quantified vascularization parameters gained by computational evaluation.

Methods

We used image analysis programs to investigate whether the quantitative value for vascularization strength in the thyroid node, measured with SMI, was correlated with the actual degree of vascularization, determined microscopically. We included 16 patients that underwent thyroid resections. We prepared thyroid gland tissue slices for immunohistochemistry and labelled endothelial cells with CD34 to visualize blood vessels microscopically. We used image analysis programs, ImageJ, to quantify SMI Doppler sonographic measurements and CellProfiler to quantify CD34 expression in histological sections. We evaluated the numeric values for diagnostic value in node differentiation. Furthermore, we compared these values to check for correlations.

Results

Among the 16 nodes studied, three harboured malignant tumours (18.75%): two papillary and one follicular carcinoma. Among the 13 benign lesions (81.25%), four harboured follicular adenomas. Malignant and benign nodes were not significantly different in sonographic (0.88 ± 0.89 vs. 1.13 ± 0.19; p = 0.2790) or immunohistochemical measurements of vascularization strength (0.05 ± 0.05 vs. 0.08 ± 0.06; p = 0.2260).

Conclusion

We found a positive, significant correlation (r = 0.55588; p = 0.0254) between SMI (quantitative values for vascularization strength) and immunohistochemistry (CD34 staining) evaluations of thyroid nodes.
Tale of two nephropathies; co-occurring Alport syndrome and IgA nephropathy, a case report
Authors: Bhattacharyya Aniruddha , Huang Yuting , Khan Sarah Hussain , Drachenberg Cinthia Beskow , Malone Laura C.
Published: October 2021

Background

Alport Syndrome and IgA Nephropathy (IgAN) are both disorders that can cause hematuria. Alport syndrome is most commonly an X-linked disease, caused by COL4A5 mutation. Mutations of COL4A3 and COL4A4 on chromosome two are also common causes of Alport syndrome. IgAN is the most common glomerulonephritis worldwide. Though IgAN is usually sporadic, an estimated 15% of cases have an inheritable component. These cases of Familal IgA Nephropathy (FIgAN) can have mutations on genes which are known to cause Alport Syndrome.

Case presentation

We report a case of a 27-year-old man with strong family history of renal disease, who presented with hematuria and new non-nephrotic range proteinuria. Physical exam showed no abnormalities. His creatinine remained persistently elevated, and renal ultrasound exhibited bilaterally increased echogenicity consistent with Chronic Kidney Disease. Twenty-four-hour urinary collection revealed non-nephrotic range proteinuria of 1.4 g, with otherwise negative workup. On biopsy, he had IgA positive immunofluorescent staining as well as moderate interstitial fibrosis and tubular atrophy. Electron microscopy showed a basket-weave pattern of thickening and splitting of the lamina densa-consistent with Alport Syndrome, as well as mesangial expansion with electron-dense deposits -consistent with IgAN.

Conclusions

Mutations of COL4A5 on the X chromosome, as well as mutations of COL4A3 and COL4A4 on chromosome 2, can cause both Alport Syndrome and FIgAN. Genome wide association studies identified certain Angiotensin Converting Enzyme gene polymorphisms as independent risk factors for progression of IgAN. Our Presentation with this co-occurring pathology suggests a new paradigm where Alport Syndrome and FIgAN may represent manifestations of a single disease spectrum rather than two disparate pathologies. Appreciating hematuria through this framework has implications for treatments and genetic counseling. Further genome wide association studies will likely increase our understanding of Alport Syndrome, FIgAN, and other causes of hematuria.
The protective impact of education on brain structure and function in Alzheimer’s disease
Authors: Zhu Wanqiu , Li Xiaoshu , Li Xiaohu , Wang Haibao , Li Meiqin , Gao Ziwen , Wu Xingqi , Tian Yanghua , Zhou Shanshan , Wang Kai , Yu Yongqiang
Published: October 2021

Background

The Cognitive Reserve (CR) theory posits that brains with higher reserve can cope with more cerebral damage to minimize clinical manifestations. The aim of this study was to examine the effect of education (CR proxy) on brain structure and function in Alzheimer’s disease (AD) and amnestic mild cognitive impairment (aMCI) patients and in cognitively healthy elderly (HC) individuals.

Methods

Fifty-seven AD patients, 57 aMCI patients and 48 HCs were included to investigate the relationships between education years and gray matter volume (GMV), regional homogeneity (ReHo) and functional connectivity (FC) in brain regions to show associations with both structure and function. Taking the severity of the disease into account, we further assessed the relationships in AD stratified analyses.

Results

In AD group, the GMV of the dorsal anterior cingulate cortex (dACC) and ReHo in the left inferior temporal cortex (ITC) were inversely associated with education years, after adjustment for age, sex, Mini-Mental State Examination (MMSE), and total intracranial volume or head motion parameters. Seed-based FC analyses revealed that education years were negatively correlated with the FC between the left anterior ITC and left mid frontal cortex as well as right superior frontal cortex and right angular gyrus. Stratified analyses results indicated that this negative relation between education and GMV, ReHo, FC was mainly present in mild AD, which was attenuated in moderate AD and aMCI groups.

Conclusions

Our results support the CR theory, and suggest that CR may be protective against AD related brain pathology at the early stage of clinical dementia. These findings could provide the locus of CR-related functional brain mechanisms and a specific time-window for therapeutic interventions to help AD patients to cope better with the brain pathological damage by increasing CR.
Incidence and risk of venous thromboembolism according to primary treatment type in women with endometrial cancer: a population-based study
Authors: Yuk Jin-Sung , Lee Banghyun , Kim Kidong , Kim Myoung Hwan , Seo Yong-Soo , Hwang Sung Ook , Cho Yong Kyoon , Kim Yong Beom
Published: October 2021

Background

Current prophylaxes and treatments for venous thromboembolism (VTE) in women with gynecologic cancer are mainly guided by studies on solid cancers because studies in gynecologic cancer did not provide sufficient data. Large-scale studies evaluating the incidence and risk of VTE according to therapeutic modality may guide prophylaxis and treatment of VTE in gynecologic cancer. This study was performed to determine the incidence and risk of VTE according to primary treatment type in Korean women with endometrial cancer.

Methods

We selected 26,256 women newly diagnosed with endometrial cancer between 2009 and 2018 from the Korean Health Insurance Review and Assessment Service database. During the total follow-up period and first six months after primary treatments initiation, the incidence and risk of VTE were evaluated according to primary treatment type, that is, no treatment, surgery, radiotherapy, chemotherapy, or hormone therapy.

Results

VTE occurred in 136 per 10,000 women during the total follow-up period and in 54 per 10,000 women during the first six months with the highest frequency in women that underwent chemotherapy. During the first year, the monthly incidence of VTE decreased with time among women that underwent no treatment, surgery, or hormone therapy and remained unchanged in those that received radiotherapy or chemotherapy. Compared with women that received no treatment, VTE risk, especially of PE significantly increased in women that underwent chemotherapy (VTE: hazard ratio (HR), 2.334; 95% CI, 1.38–3.949; P = 0.002) (PE: HR, 2.742; 95% CI, 1.424–5.278; P = 0.003) or hormone therapy (VTE: HR, 2.073; 95% CI, 1.356–3.17; P = 0.001) (PE: HR, 2.086; 95% CI, 1.19–3.657; P = 0.01) during the total follow-up period and women that underwent only chemotherapy during the first six months (VTE: HR, 2.532; 95% CI, 1.291–4.966; P = 0.007) (PE: HR, 3.366; 95% CI, 1.496–7.576; P = 0.003).

Conclusions

In this cohort study, the incidence and risk of VTE were highest in women with endometrial cancer that underwent chemotherapy as a primary treatment. Notably, the incidence of VTE decreased over time in women that received no treatment, surgery, or hormone therapy. This study can help guide therapies for prophylaxis and treatment of VTE in women with endometrial cancer.