bluuebunny/crossref_metadata_2025 huggingface dataset:
Seeking menstrual products: a qualitative exploration of the unmet menstrual needs of individuals experiencing homelessness in New York City
Authors: Gruer Caitlin , Hopper Kim , Smith Rachel Clark , Kelly Erin , Maroko Andrew , Sommer Marni
Published: April 2021

Background

There has been increasing recognition that certain vulnerable populations in the United States of America struggle to meet their menstruation-related needs, including people experiencing homelessness. Media and policy attention on this subject has focused on the provision of free menstrual products to vulnerable populations, including a New York City legislative bill, which guarantees access to menstrual products for Department of Homeless Services shelter residents (Intros 1123-A).

Methods

This qualitative study explored the challenges people experiencing homelessness in New York City face in accessing menstrual products. Data collection was conducted from June to August 2019 and included: Semi-structured key informant interviews with staff from relevant government agencies and homeless service providers (n = 15), and semi-structured in-depth interviews with individuals with experience living on the street and in shelters (n = 22). Data were analysed using thematic analysis.

Results

Key themes that emerged included: (1) insufficient and inconsistent access to menstrual products; (2) systemic challenges to providing menstrual products; and (3) creative solutions to promote access to menstrual products. Both shelter- and street-living individuals reported significant barriers to accessing menstrual products. While both populations struggle, those in shelters were more likely to be able to purchase menstrual products or access free products at their shelter, while those living on the streets were more likely to have to resort to panhandling, theft, or using makeshift materials in place of menstrual products. Across both populations, individuals described barriers to accessing free products at shelters and service providers, primarily due to distribution systems that rely on gatekeepers to provide a few pads or tampons at a time, sometimes of inadequate quality and only upon request. Shelters and service providers also described challenges providing these products, including inconsistent supply.

Conclusion

These findings highlight the critical importance of expanding and improving initiatives seeking to provide access to menstrual products for vulnerable populations. Despite policy level efforts to support menstrual product access, individuals experiencing homelessness in New York City, whether living in shelters or on the street, are often not able to access the menstrual products that they need to manage their monthly menstrual flow.
Improved cortical activity and reduced gait asymmetry during poststroke self-paced walking rehabilitation
Authors: Oh Keonyoung , Park Jihong , Jo Seong Hyeon , Hong Seong-Jin , Kim Won-Seok , Paik Nam-Jong , Park Hyung-Soon
Published: April 2021

Background

For patients with gait impairment due to neurological disorders, body weight-supported treadmill training (BWSTT) has been widely used for gait rehabilitation. On a conventional (passive) treadmill that runs at a constant speed, however, the level of patient engagement and cortical activity decreased compared with gait training on the ground. To increase the level of cognitive engagement and brain activity during gait rehabilitation, a self-paced (active) treadmill is introduced to allow patients to actively control walking speed, as with overground walking.

Methods

To validate the effects of self-paced treadmill walking on cortical activities, this paper presents a clinical test with stroke survivors. We hypothesized that cortical activities on the affected side of the brain would also increase during active walking because patients have to match the target walking speed with the affected lower limbs. Thus, asymmetric gait patterns such as limping or hobbling might also decrease during active walking.

Results

Although the clinical test was conducted in a short period, the patients showed higher cognitive engagement, improved brain activities assessed by electroencephalography (EEG), and decreased gait asymmetry with the self-paced treadmill. As expected, increases in the spectral power of the low γ and β bands in the prefrontal cortex (PFC), premotor cortex (PMC), and supramarginal gyrus (SG) were found, which are possibly related to processing sensory data and planning voluntary movements. In addition, these changes in cortical activities were also found with the affected lower limbs during the swing phase. Since our treadmill controller tracked the swing speed of the leg to control walking speed, such results imply that subjects made substantial effort to control their affected legs in the swing phase to match the target walking speed.

Conclusions

The patients also showed reduced gait asymmetry patterns. Based on the results, the self-paced gait training system has the potential to train the symmetric gait and to promote the related cortical activities after stroke.

Trial registration Not applicable
Complete genome sequence of a novel nege-like virus in aphids (genus Indomegoura)
Authors: Qi Yu-Hua , Xu Liao-Yuan , Zhai Jing , Ye Zhuang-Xin , Lu Gang , Chen Jian-Ping , Zhang Chuan-Xi , Li Jun-Min
Published: April 2021

Background

Aphids are important vectors of numerous plant viruses. Besides plant viruses, a number of insect specific viruses (ISVs), such as nege/nege-like viruses, have been recently discovered in aphids of the genera Aphis, Rhopalosiphum, and Sitobion.

Findings

In this study, the complete genome sequence of a novel nege-like virus, tentatively named “Indomegoura nege-like virus 1” (INLV1), was identified in aphids of the genus Indomegoura. INLV1 possessed a single positive-stranded RNA genome with 8945 nucleotides, which was predicted to contain three typical open reading frames (ORFs) of negeviruses (including ORF1, ORF2, and ORF3), a 44-nt 5′ untranslated region (UTR) and a 98-nt 3′ UTR. Five conserved domains were predicted for INLV1, including an Alphavirus-like methyltransferase domain, a RNA virus helicase core domain, and a RNA-dependent RNA polymerase domain (RdRP) in ORF1, a DISB-ORF2_chro domain in ORF2, and a SP24 domain in ORF3. According to the maximum likelihood phylogenetic tree based on RdRP, INLV1 was grouped with barley aphid RNA virus 1 and Hubei virga-like virus 4, together with another two invertebrate viruses, which formed a distinct clade in the proposed group Centivirus. The alignment of RdRP domains for INLV1 and other nege/kita-like viruses suggested that RdRP of INLV1 contained the permuted C (GDD)- A [DX(4–5)D] –B [GX(2–3)TX(3)N] motifs, which were conserved in the Centivirus and Sandewavirus groups. Furthermore, the high abundance and typical characteristics of INLV1 derived small interfering RNAs clearly showed the active replication of INLV1 in the aphid Indomegoura.

Conclusion

INLV1 is the first nege-like virus infecting aphids of the genus Indomegoura. As far as we know, it is also the first ISV revealed in this aphid genus.
STAT3 phosphorylation in central leptin resistance
Authors: Liu Huimin , Du Tianxin , Li Chen , Yang Guoqing
Published: April 2021

Mechanism exploitation of energy homeostasis is urgently required because of the worldwide prevailing of obesity-related metabolic disorders in human being. Although it is well known that leptin plays a central role in regulating energy balance by suppressing food intake and promoting energy expenditure, the existence of leptin resistance in majority of obese individuals hampers the utilization of leptin therapy against these disorders. However, the mechanism of leptin resistance is largely unknown in spite of the globally enormous endeavors. Current theories to interpret leptin resistance include the impairment of leptin transport, attenuation of leptin signaling, chronic inflammation, ER tress, deficiency of autophagy, as well as leptin itself. Leptin-activated leptin receptor (LepRb) signals in hypothalamus via several pathways, in which JAK2-STAT3 pathway, the most extensively investigated one, is considered to mediate the major action of leptin in energy regulation. Upon leptin stimulation the phosphorylation of STAT3 is one of the key events in JAK2-STAT3 pathway, followed by the dimerization and nuclear translocation of this molecule. Phosphorylated STAT3 (p-STAT3), as a transcription factor, binds to and regulates its target gene such as POMC gene, playing the physiological function of leptin. Regarding POMC gene in hypothalamus however little is known about the detail of its interaction with STAT3. Moreover the status of p-STAT3 and its significance in hypothalamus of DIO mice needs to be well elucidated. This review comprehends literatures on leptin and leptin resistance and especially discusses what STAT3 phosphorylation would contribute to central leptin resistance.
Changes in hepatic triglyceride content with the activation of ER stress and increased FGF21 secretion during pregnancy
Authors: Lu Jiayu , Gong Ying , Wei Xinhong , Yao Zhenyu , Yang Rui , Xin Jinxing , Gao Ling , Shao Shanshan
Published: April 2021

Background

To meet the needs of foetal growth and development, marked changes in lipid profiles occur during pregnancy. Abnormal lipid metabolism is often accompanied by adverse pregnancy outcomes, which seriously affect maternal and infant health. Further understanding of the mechanism of lipid metabolism during pregnancy would be helpful to reduce the incidence of adverse pregnancy outcomes.

Methods

Pregnant mice were euthanized in the virgin (V) state, on day 5 of pregnancy (P5), on day 12 of pregnancy (P12), on day 19 of pregnancy (P19) and on lactation day 2 (L2). Body weight and energy expenditure were assessed to evaluate the general condition of the mice. Triglyceride (TG) levels, the cholesterol content in the liver, liver histopathology, serum lipid profiles, serum β-hydroxybutyrate levels, fibroblast growth factor-21 (FGF21) levels and the levels of relevant target genes were analysed.

Results

During early pregnancy, anabolism was found to play a major role in liver lipid deposition. In contrast, advanced pregnancy is an overall catabolic condition associated with both increased energy expenditure and reduced lipogenesis. Moreover, the accumulation of hepatic TG did not appear until P12, after the onset of endoplasmic reticulum (ER) stress on P5. Then, catabolism was enhanced, and FGF21 secretion was increased in the livers of female mice in late pregnancy. We further found that the expression of sec23a, which as the coat protein complex II (COPII) vesicle coat proteins regulates the secretion of FGF21, in the liver was decreased on P19.

Conclusion

With the activation of ER stress and increased FGF21 secretion during pregnancy, the hepatic TG content changes, suggesting that ER stress and FGF21 may play an important role in balancing lipid homeostasis and meeting maternal and infant energy requirements in late pregnancy.
Farmer preferred traits and genotype choices in Solanum aethiopicum L., Shum group
Authors: Nakyewa Brenda , Sseremba Godfrey , Kabod Nahamya Pamela , Rwothtimutung Moses , Kyebalyenda Tadeo , Waholi Kenneth , Buteme Ruth , Nakanwangi Mildred Julian , Bishop Gerard , Kizito Elizabeth Balyejusa
Published: April 2021

Background

Solanum aethiopicumL. is a nutrient dense African indigenous vegetable. However, advancement of its improved varieties that can increase productivity, household income, and food security has not been prioritized. Further still, studies on some of the crops that have been worked have indicated that it is not a guarantee that the improved varieties will be accepted by the end users and therefore there is need to identify and profile what genotypes are of interest to farmers and their preferred traits through inclusive participatory evaluations.

Methodology

Farmer participatory evaluations were conducted to profile farmers’ traits of interest and preferred genotypes. A total of 24 genotypes were established in three replications in 6 farms in 3 districts; Wakiso, Mukono, and Luwero as these are the major producing districts of the vegetable in Uganda. A total of 177 sex-disaggregated farmers were engaged in scoring the genotypes for pest, disease and drought tolerance, general appeal, leaf yield, leaf texture, and seed yield for best 10 genotypes under each variable.

Results

Non-significant differences in trait (p> 0.05) and genotype preferences (p> 0.05) were obtained between men and women. The most desired farmer traits were seed and leaf yield, followed by pest and disease resistance. The overall preferred genotype in terms of disease and pest resistance, leaf yield, leaf texture, and seed yield were E12 followed by E11.

Conclusion

Gender does not seem to influence farmer choices for theS.aethiopicum, Shum group, indicating an opportunity for single variety prototype advancement by breeders and dissemination by seed companies.
Cannabis use in patients treated for opioid use disorder pre- and post-recreational cannabis legalization in Canada
Authors: Rosic Tea , Sanger Nitika , Panesar Balpreet , Foster Gary , Marsh David C. , Rieb Launette , Thabane Lehana , Worster Andrew , Samaan Zainab
Published: April 2021

Background

As the legalization of recreational cannabis becomes more widespread, its impact on individuals with substance use disorders must be studied. Amidst an ongoing opioid crisis, Canada’s legalization of recreational cannabis in October 2018 provides an important setting for investigation. We examined changes to cannabis use patterns in patients receiving medication-assisted treatment (MAT) for opioid use disorder (OUD) following legalization.

Methods

This study includes cross-sectional data from 602 participants recruited 6 months pre-legalization and 788 participants recruited 6 months post-legalization, providing information on cannabis use. Regression analysis was used to estimate the association between legalization and cannabis use patterns. We collected longitudinal urine drug screens (UDSs) detecting cannabis-metabolites for 199 participants recruited pre-legalization and followed prospectively post-legalization. Conditional logistic regression was used to assess the association between legalization and UDS results.

Results

Past-month cannabis use was self-reported by 54.8 and 52.3% of participants recruited pre- and post-legalization, respectively. Legalization was not associated with changes in any measured cannabis characteristics: cannabis use (OR 0.91, 95% CI 0.73–1.13), days of use/month (B -0.42, 95% CI - 2.05-1.21), money spent, or cannabis source. There was no association between legalization and prevalence of cannabis use on UDS (OR 1.67, 95% CI 0.93–2.99) or percentage of cannabis-positive UDSs (OR 1.00, 95% CI 0.99–1.01). Participants overwhelmingly reported that legalization would have no impact on their cannabis use (85.7%).

Conclusions

Amongst patients treated for OUD, no significant change in cannabis use was observed following legalization; however, high rates of cannabis use are noted.
Implementation strategies to improve statin utilization in individuals with hypercholesterolemia: a systematic review and meta-analysis
Authors: Jones Laney K. , Tilberry Stephanie , Gregor Christina , Yaeger Lauren H. , Hu Yirui , Sturm Amy C. , Seaton Terry L. , Waltz Thomas J. , Rahm Alanna K. , Goldberg Anne , Brownson Ross C. , Gidding Samuel S. , Williams Marc S. , Gionfriddo Michael R.
Published: April 2021

Background

Numerous implementation strategies to improve utilization of statins in patients with hypercholesterolemia have been utilized, with varying degrees of success. The aim of this systematic review is to determine the state of evidence of implementation strategies on the uptake of statins.

Methods and results

This systematic review identified and categorized implementation strategies, according to the Expert Recommendations for Implementing Change (ERIC) compilation, used in studies to improve statin use. We searched Ovid MEDLINE, Embase, Scopus, Cochrane Database of Systematic Reviews, Cochrane Central Register of Controlled Trials, and Clinicaltrials.gov from inception to October 2018. All included studies were reported in English and had at least one strategy to promote statin uptake that could be categorized using the ERIC compilation. Data extraction was completed independently, in duplicate, and disagreements were resolved by consensus. We extracted LDL-C (concentration and target achievement), statin prescribing, and statin adherence (percentage and target achievement). A total of 258 strategies were used across 86 trials. The median number of strategies used was 3 (SD 2.2, range 1–13). Implementation strategy descriptions often did not include key defining characteristics: temporality was reported in 59%, dose in 52%, affected outcome in 9%, and justification in 6%. Thirty-one trials reported at least 1 of the 3 outcomes of interest: significantly reduced LDL-C (standardized mean difference [SMD] − 0.17, 95% CI − 0.27 to − 0.07, p = 0.0006; odds ratio [OR] 1.33, 95% CI 1.13 to 1.58, p = 0.0008), increased rates of statin prescribing (OR 2.21, 95% CI 1.60 to 3.06, p < 0.0001), and improved statin adherence (SMD 0.13, 95% CI 0.06 to 0.19; p = 0.0002; OR 1.30, 95% CI 1.04 to 1.63, p = 0.023). The number of implementation strategies used per study positively influenced the efficacy outcomes.

Conclusion

Although studies demonstrated improved statin prescribing, statin adherence, and reduced LDL-C, no single strategy or group of strategies consistently improved outcomes.

Trial registration

PROSPERO CRD42018114952.
Method of computing direction-dependent margins for the development of consensus contouring guidelines
Authors: Lawrence Liam S. P. , Chin Lee C. L. , Chan Rachel W. , Nguyen Timothy K. , Sahgal Arjun , Tseng Chia-Lin , Lau Angus Z.
Published: April 2021

Background

Clinical target volume (CTV) contouring guidelines are frequently developed through studies in which experts contour the CTV for a representative set of cases for a given treatment site and the consensus CTVs are analyzed to generate margin recommendations. Measures of interobserver variability are used to quantify agreement between experts. In cases where an isotropic margin is not appropriate, however, there is no standard method to compute margins in specified directions that represent possible routes of tumor spread. Moreover, interobserver variability metrics are often measures of volume overlap that do not account for the dependence of disagreement on direction. To aid in the development of consensus contouring guidelines, this study demonstrates a novel method of quantifying CTV margins and interobserver variability in clinician-specified directions.

Methods

The proposed algorithm was applied to 11 cases of non-spine bone metastases to compute the consensus CTV margin in each direction of intraosseous and extraosseous disease. The median over all cases for each route of spread yielded the recommended margins. The disagreement between experts on the CTV margin was quantified by computing the median of the coefficients of variation for intraosseous and extraosseous margins.

Results

The recommended intraosseous and extraosseous margins were 7.0 mm and 8.0 mm, respectively. The median coefficient of variation quantifying the margin disagreement between experts was 0.59 and 0.48 for intraosseous and extraosseous disease.

Conclusions

The proposed algorithm permits the generation of margin recommendations in relation to adjacent anatomy and quantifies interobserver variability in specified directions. This method can be applied to future consensus CTV contouring studies.
Lugol’s solution but not formaldehyde affects bone microstructure and bone mineral density parameters at the insertion site of the rotator cuff in rats
Authors: Feichtinger Xaver , Heimel Patrick , Keibl Claudia , Hercher David , Schanda Jakob Emanuel , Kocijan Roland , Redl Heinz , Grillari Johannes , Fialka Christian , Mittermayr Rainer
Published: April 2021

Background

This study aimed to investigate whether rodent shoulder specimens fixed in formaldehyde for histological and histomorphometric investigations and specimens stained using Lugol’s solution for soft tissue visualization by micro-computed tomography (microCT) are still eligible to be used for bone architecture analysis by microCT.

Methods

In this controlled laboratory study, 11 male Sprague-Dawley rats were used. After sacrifice and exarticulation both shoulders of healthy rats were assigned into three groups: (A) control group (n= 2); (B) formaldehyde group (n= 4); (C) Lugol group (n= 5). Half of the specimens of groups B and C were placed in a 4% buffered formaldehyde or Lugol’s solution for 24 h, whereas the contralateral sides and all specimens of group A were stored without any additives. MicroCT of both sides performed in all specimens focused on bone mineral density (BMD) and bone microstructure parameters.

Results

BMD measurements revealed higher values in specimens after placement in Lugol’s solution (p< 0.05). Bone microstructure analyses showed increased BV/TV and Tb.Th values in group C (p< 0.05). Specimens of group C resulted in clearly decreased Tb.Sp values (p< 0.05) in comparison to the control group. Formaldehyde fixation showed minimally altered BMD and bone microstructure measurements without reaching any significance.

Conclusions

MicroCT scans of bone structures are recommended to be conducted natively and immediately after euthanizing rats. MicroCT scans of formaldehyde-fixed specimens must be performed with caution due to a possible slight shift of absolute values of BMD and bone microstructure. Bone analysis of specimens stained by Lugol’s solution cannot be recommended.
Comparison of radiographic changes in rectangular curved short stem with thin versus thick porous coating for cementless total hip arthroplasty: a retrospective study with a propensity score matching
Authors: Munakata Yutaro , Kuramitsu Yujiro , Usui Yutaka , Okazaki Ken
Published: April 2021

Background

Radiographic changes that appear relatively quickly after fixation of cementless stem in total hip arthroplasty (THA) vary depending on the stem design and fixation style. The present study compared radiographic changes between two types of rectangular curved short stems of similar shape.

Methods

This retrospective study included 118 hips that underwent primary cementless THA with an anterolateral supine approach using a rectangular, curved, short stem performed by the same surgeon between June 2015 and June 2019. Among the examined hips, 39 had a thicker porous coating stem (thicker group) and 66 had a thinner porous coating and reduced tip stem (thinner group) and at least 12-month follow-up. Radiographs taken during the final course observation were assessed. Propensity score matching was performed based on demographic data and comparisons were made using pairs of 25 hips each. Statistical analysis was performed using chi-square test andpvalues ≤ 0.05 indicated statistical significance.

Results

The pattern of the radiolucent lines showed a significant difference after matching (p= 0.0044). A “proximal and distal” pattern was most common in the thicker group and a “distal only” pattern was most common in the thinner group. There was notable and significant difference in cortical hypertrophy in the thicker group after matching (p= 0.024).

Conclusions

Although the two short stems were similar shapes, the short-term radiographic changes were different. The thinner group showed fewer radiographic changes than the thicker group, making it a more “silent” stem.
Transforaminal percutaneous endoscopic discectomy for symptomatic gas-filled discal cysts—report of three cases and literature review
Authors: Zhu Kejun , He Dengwei
Published: April 2021

Objective

The aim of this retrospective study is to review our experience in the diagnosis and role of transforaminal percutaneous endoscopic discectomy (TPED) for symptomatic gas-filled discal cysts.

Methods

Between May 2014 and June 2017, 3 patients from Lishui Center Hospital (Lishui China), who underwent TPED for symptomatic gas-filled discal cysts, were analyzed. The clinical features, imaging findings, operative findings, and treatment outcomes are presented. In addition, relevant literature regarding gas-filled discal cysts was searched using PubMed, and their characteristics, clinical features, therapeutic strategies, and survival outcomes were reviewed.

Results

The median age of the patients was 56.7 years (range, 55–60 years). In all patients, a discal cyst was located in the lumbar region, and the patients presented with backache and numbness in the lower extremities. The diagnosis was made by lumbar 3-dimensional computed tomography (3D-CT) or magnetic resonance imaging (MRI). All patients underwent TPED. All patients recovered successfully and were eventually discharged. Eighteen articles were identified from the searches of the database, and a total of 42 patients were included. There were 28 males and 14 females. The mean age was 56.8 years, ranging from 27 to 85 years. Lower back pain was the major symptom. Twenty-two patients underwent surgery, 4 patients underwent percutaneous needle aspiration, 2 patients underwent drug therapy, 13 patients received nonoperative treatment, and 1 patient was unknown.

Conclusion

TPED for gas-filled discal cysts is feasible, effective, and successful, although it should be performed by an experienced surgeon with awareness of the potential risk of severe nerve root injury.
Histological analysis of induced membranes in patients whose bone defects were treated with the Masquelet technique to identify factors affecting the vascularity of induced membranes
Authors: Niikura Takahiro , Jimbo Naoe , Komatsu Masato , Oe Keisuke , Fukui Tomoaki , Matsumoto Tomoyuki , Hayashi Shinya , Matsushita Takehiko , Sakai Yoshitada , Itoh Tomoo , Kuroda Ryosuke
Published: April 2021

Background

Rich vascularity of the induced membrane (IM) is important for Masquelet reconstruction surgery. The factors affecting IM vascularity are not completely understood. This study aimed to investigate these factors using histological samples of human IMs.

Methods

We retrospectively evaluated 36 patients whose bone defects were treated using the Masquelet technique. Two clinical pathologists analyzed histological sections of IM pieces (1 cm2). The number of blood vessels per 1 mm2 was counted and compared among men and women, femur or tibia, with and without free flap surgery, antibiotic impregnation to the cement, osteogenesis inside the membrane, smoking, and diabetes mellitus. The number of blood vessels within the same patient was compared among different time points. Correlation analysis was performed among blood vessel numbers and patient age, duration of cement spacer placement, and histological grading scales (inflammation, foreign body reaction, and fibrosis).

Results

IM formation with rich vascularity and some inflammation, foreign body reaction, and fibrosis were histologically confirmed in all patients. We found 37.4 ± 19.1 blood vessels per 1 mm2. The number of blood vessels was significantly lower in patients with than in those without free flap surgery; it was higher in patients with osteogenesis inside the IM. No significant correlations were found in any of the analyses.

Conclusion

Sex, patient age, smoking, diabetes mellitus, femur or tibia, duration of cement spacer placement, and antibiotic impregnation to the cement did not affect IM vascularization. IM vascularization was reduced in patients with than in those without free flap surgery.
Comprehensive analysis of lumbar disc degeneration and autophagy-related candidate genes, pathways, and targeting drugs
Authors: Xu Wei-long , Zhao Yan
Published: April 2021

Background

Lumbar disc degeneration (LDD) is an essential pathological mechanism related to low back pain. Current research on spinal surgery focused on the sophisticated mechanisms involved in LDD, and autophagy was regarded as an essential factor in the pathogenesis.

Objectives

Our research aimed to apply a bioinformatics approach to select some candidate genes and signaling pathways in relationship with autophagy and LDD and to figure out potential agents targeting autophagy- and LDD-related genes.

Materials and methods

Text mining was used to find autophagy- and LDD-related genes. The DAVID program was applied in Gene Ontology and pathway analysis after selecting these genes. Several important gene modules were obtained by establishing a network of protein-protein interaction and a functional enrichment analysis. Finally, the selected genes were searched in the drug database to find the agents that target LDD- and autophagy-related genes.

Results

There were 72 genes related to “autophagy” and “LDD.” Three significant gene modules (22 genes) were selected by using gene enrichment analysis, which represented 4 signaling pathways targeted by 32 kinds of drugs approved by the Food and Drug Administration (FDA). The interactions between drugs and the genes were also identified.

Conclusion

To conclude, a method was proposed in our research to find candidate genes, pathways, and drugs which were involved in autophagy and LDD. We discovered 22 genes, 4 pathways, and 32 potential agents, which provided a theoretical basis and new direction for clinical and basic research on LDD.
Robotic video-assisted thoracoscopic surgery using multiport triangular trocar configuration: initial experience at a single center
Authors: Vinh Vu Huu , Quang Nguyen Viet Dang , Thanh Dang Dinh Minh , Van Le Phong Truong
Published: April 2021

Background

Recent developments in robotic technology have brought significant changes in robotic video-assisted thoracoscopic surgery (r-VATS) worldwide, particularly including the treatment in the thorax for the mediastinal, esophagus, and pulmonary lesions. Currently, there are only a few reports describing the procedural experience and outcomes with r-VATS. The objective of this study is to provide our initial experience using r-VATS at a single center, with specific attention to safety, efficacy, and procedural details.

Methods

We retrospectively reviewed patients who underwent a newly modified r-VATS procedure for various surgical operations at the thoracic department of our hospital, from July 2018 to January 2020. Multiport trocars were placed in the classic triangular arrangement as in conventional VATS (c-VATS) but with modifications based on the type of surgery. The peri- and postoperative outcomes such as duration of surgery, complications, and duration of hospital stay for these patients were reported.

Results

Overall, 142 patients underwent r-VATS for lobectomy (66), wedge resection (15), thymectomy (22), mediastinal tumor resection (30), pneumonectomy (4), transthoracic esophagectomy (1), esophageal tumor resection or esophageal diverticulum repair (2), diaphragm plication (1), and mediastinal tumor resection plus thymectomy (1). For the entire cohort, the median operative time was 110 min, and the median length of hospital stay was 5 days. Conversion to open thoracic surgery was reported only in a total of 3 (2.1%) patients of pneumonectomy (1.4%) and mediastinal tumor resection (0.70%). All our patients were managed successfully with no postoperative complications and mortality.

Conclusion

Our method of r-VATS was found to be safe and effective and may be applied to different surgical operations. Adequate and proper training of thoracic surgeons is immediately needed for the transition from c-VATS to r-VATS. The utility and advantages of triangular trocar configuration for r-VATS require further refinement and research before it can be routinely adopted in clinical practice.

Trial registration

Retrospectively registered.
Early single-stage surgical revascularization of pulmonary artery in unilateral absence of a pulmonary artery
Authors: Li Wenlei , Ma Li , Xia Shuliang , Zou Minghui , Chen Weidan , Chen Xinxin
Published: April 2021

Background

This research aims to summarize the findings of the early single-stage revascularization of remnant pulmonary artery in unilateral absent intrapericardial pulmonary artery.

Methods

We retrospectively analyzed the medical records of 10 patients with unilateral absent pulmonary artery, in which 7 were right and 3 were left, the median age and mean weight at surgery was 4 months and 5.6 kg, respectively. The patients received operation from January 2009 to June 2020.

Results

Ten patients, 1 case associated with atrial septal defect, 2 cases with tetralogy of Fallot, and 1 case with aortopulmonary window. The mean diameter of the affected hilar pulmonary artery remnants was 3.14 ± 1.09 mm (1.6-5 mm), and the Z value was − 3.66 ± 1.86 (range, − 6.7 to − 1.75). All the patients received single-stage revascularization: tube graft interposition in 3 patients, autologous pericardial roll in 4, direct anastomosis in one, and main pulmonary artery flap angioplasty in the rest 3. No hospital deaths occurred. Mean follow-up in this cohort was 3.3 ± 1.9 years One case underwent percutaneous balloon dilatation due to new pulmonary artery stenosis. Nonetheless, the results were encouraging, symptoms have improved in all patients. The median Z value of the latest ipsilateral pulmonary artery diameter was − 1.88 (range, − 4.52 to − 1.35), a significantly improvement when compared to the preoperative value. The Z value of that in patients who using Gore-Tex tube increased relatively small.

Conclusions

Single-stage pulmonary artery revascularization is effective at restoring normal antegrade flow to the affected lung, resulting in improved diameter of the PA, regression of pulmonary hypertension, and patient’s symptoms. Revascularization by using the autologous tissue or autologous pericardium may obtain a preferred result. The new pulmonary artery stenosis certainly will need to be addressed in the long-term follow-up.
Rare disease awareness and perspectives of physicians in China: a questionnaire-based study
Authors: Li Xuefeng , Zhang Xiangyu , Zhang Shu , Lu Zijuan , Zhang Jianyong , Zhou Jincheng , Li Bingzhe , Ou Li
Published: April 2021

Background

It is estimated that there are over 16.8 million rare disease patients in China, representing a significant challenge for the healthcare system and society. Rare disease patients often experience delayed diagnosis, misdiagnosis, or improper treatment, which may be due to the lack of rare disease awareness among physicians.

Materials and methods

A total of 224 physicians from different hospitals in China participated in the questionnaire, and 9 rare disease experts were interviewed with open-ended questions.

Results

Most physicians (83.5%) were from Tertiary hospitals, which have over 500 beds. Only 5.3% of physicians were moderately or well aware of rare diseases. Most physicians (80.1%) had suspected their patients to have rare diseases less than 3 times. There was a strong support for special legislations for rare diseases and orphan drugs. Further, multinomial logistic regression (MLR) was used to determine whether hospitals, gender, and career length has an impact on perspectives and awareness. It was shown that male physicians were more likely to think newborn screening is important (p < 0.05). The longer the career length is, the more likely physicians believe that their previous education has not provided sufficient information about rare diseases and that their hospital has paid enough attention to rare diseases. Physicians from Tertiary A hospitals were more likely to rate the affordability of orphan drugs high. In addition, nine experts believed that rare disease awareness is essential for early diagnosis and timely treatment. These experts also made recommendations on how to improve rare disease awareness through medical school education and continuing training.

Conclusions

Our study highlighted the importance of improving rare disease awareness among physicians in China. Recommendations about how to improve rare disease awareness in medical school education and establish an online ‘information hub’ are made for considerations of policy-makers.
Childbirth and motherhood in women with motor disability due to a rare condition: an exploratory study
Authors: Dommergues Marc , Candilis Drina , Becerra Ludivine , Thoueille Edith , Cohen David , Viaux-Savelon Sylvie
Published: April 2021

Background

Rare diseases may result in motor impairment, which in turn may affect parenthood. Our purpose was to evaluate perinatal outcomes, parenting needs, mother-infant interactions and infant development in a set of volunteer women with motor impairment due to a rare disease. In a parenting support institution, we recruited a consecutive series of 22 volunteer pregnant women or young mothers, recorded perinatal outcomes, and followed mother-infant interaction and relationship and infant development up to 14 months postpartum. Cases with intellectual or psychic disability were not included.

Results

There were 11 genetic diseases (2 Spinal Muscular Atrophy, 1 Charcot-Marie-Tooth, 1 autosomal dominants myopathy, 1 mitochondrial disease, 2 Elhers-Danlos, 1 Friedreich ataxia, 1 spinocerebellar ataxia, 1 tetrahydrobiopterine deficiency,1 Ectrodactyly), and 11 rare non-genetic conditions (2 spine tumors, 2 strokes, 1 juvenile chronic arthritis, 3 birth injuries, 1 inflammatory myopathy, 1 congenital amputation, and 1 traumatic amputation). These resulted in 10 impairments of four limbs, 4 impairments of both lower limbs, 7 unilateral impairments, and one distal tremor. Social deprivation Epices score, Cutrona social support scale, Edinburg Postnatal Depression scale, and Spielberger State/Trait Anxiety Inventory were unremarkable. Perinatal outcome: 4 gestational diabetes, 1 pre-eclampsia, 9 caesareans, 6 assisted and 7 spontaneous vaginal deliveries, 20 term live-births and 2 premature deliveries (35–36 weeks). Twelve women declared they were self-sufficient for daily activities; six declared they were self-sufficient to provide basic care to their baby. Distribution of the Brunet-Lezine child development score was normal. The parent-infant relationship global assessment scale (PIR-GAS) was well adapted in 2 cases, adapted in 8, perturbed in 7, significantly perturbed in 2, and distressed in 3 (mean 71.8; 95% CI 49.6–93.9). This was unrelated to any somatic or emotional characteristics of the participants. Coding interactive behavior revealed that infant engagement was lower and infant avoidance greater than in controls (p < 0.05).

Conclusion

Infant development was normal, but mother-infant interactions were altered in half of the participants independently from the degree of motor impairment, underscoring the need for parenting support, even for parents who are self-sufficient in daily activities.
A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa
Authors: Tang Jean Yuh , Marinkovich M. Peter , Lucas Eleanor , Gorell Emily , Chiou Albert , Lu Ying , Gillon Jodie , Patel Dipen , Rudin Dan
Published: April 2021

Background/objective

Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic collagen disorder characterized by skin fragility leading to blistering, wounds, and scarring. There are currently no approved curative therapies. The objective of this manuscript is to provide a comprehensive literature review of the disease burden caused by RDEB.

Methods

A systematic literature review was conducted in MEDLINE and Embase in accordance with PRISMA guidelines. Observational and interventional studies on the economic, clinical, or humanistic burden of RDEB were included.

Results

Sixty-five studies were included in the review. Patients had considerable wound burden, with 60% reporting wounds covering more than 30% of their body. Increases in pain and itch were seen with larger wound size. Chronic wounds were larger and more painful than recurrent wounds. Commonly reported symptoms and complications included lesions and blistering, anemia, nail dystrophy and loss, milia, infections, musculoskeletal contractures, strictures or stenoses, constipation, malnutrition/nutritional problems, pseudosyndactyly, ocular manifestations, and dental caries. Many patients underwent esophageal dilation (29–74%; median dilations, 2–6) and gastrostomy tube placement (8–58%). In the severely affected population, risk of squamous cell carcinoma (SCC) was 76% and mortality from SCC reached 84% by age 40. Patients with RDEB experienced worsened quality of life (QOL), decreased functioning and social activities, and increased pain and itch when compared to other EB subtypes, other skin diseases, and the general population. Families of patients reported experiencing high rates of burden including financial burden (50–54%) and negative impact on private life (79%). Direct medical costs were high, though reported in few studies; annual payer-borne total medical costs in Ireland were $84,534 and annual patient-borne medical costs in Korea were $7392. Estimated annual US costs for wound dressings ranged from $4000 to $245,000. Patients spent considerable time changing dressings: often daily (13–54% of patients) with up to three hours per change (15–40%).

Conclusion

Patients with RDEB and their families/caregivers experience significant economic, humanistic, and clinical burden. Further research is needed to better understand the costs of disease, how the burden of disease changes over the patient lifetime and to better characterize QOL impact, and how RDEB compares with other chronic, debilitating disorders.
Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations)
Authors: Francisco Ana A. , Berruti Alaina S. , Kaskel Frederick J. , Foxe John J. , Molholm Sophie
Published: April 2021

Background

Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other organs, but therapeutic advances have led to substantially increased life expectancy, necessitating deeper understanding of its impact on neurocognitive function in adulthood. We previously demonstrated intact auditory sensory processing, accompanied by mild sensory memory difficulties, in children and adolescents with cystinosis.

Methods

We investigated whether further progressive decrements in these processes would be observed in adults with cystinosis, comparing high-density auditory-evoked potential (AEP) recordings from adults with cystinosis (N = 15; ages: 19–38 years) to those of age-matched controls (N = 17). We employed a duration oddball paradigm with different stimulation rates, in which participants passively listened to regularly occurring standard tones interspersed with infrequently occurring deviant tones. Analyses focused on AEP components reflecting auditory sensory-perceptual processing (N1 and P2), sensory memory (mismatch negativity, MMN), and attentional orienting (P3a).

Results

Overall, adults with cystinosis produced highly similar sensory-perceptual AEP responses to those observed in controls suggesting intact early auditory cortical processing. However, significantly increased P2 and P3a amplitudes and reduced MMN at slower stimulation rates were observed, suggesting mild-to-moderate changes in auditory sensory memory and attentional processing. While cognitive testing revealed lower scores on verbal IQ and perceptual reasoning in cystinosis, these did not correlate with the AEP measures.

Conclusions

These neurophysiological data point to the emergence of subtle auditory processing deficits in early adulthood in cystinosis, warranting further investigation of memory and attentional processes in this population, and of their consequences for perceptual and cognitive function.
Effectiveness of a Community-based Group Mindfulness Program tailored for Arabic and Bangla-speaking Migrants
Authors: Blignault Ilse , Saab Hend , Woodland Lisa , Mannan Haider , Kaur Arshdeep
Published: April 2021

Background

Migrant communities are often underserved by mainstream mental health services resulting in high rates of untreated psychological distress. This collaborative study built on evidence that mindfulness-based interventions delivered in-language and culturally tailored were acceptable and clinically effective for Arabic speakers in Australia. It aimed to establish whether a group mindfulness program produced expected outcomes under normal operational conditions, and to test its scalability and its transferability to Bangla speakers.

Methods

A 5-week mindfulness program was delivered to 15 Arabic-speaking and 8 Bangla-speaking groups in community settings. The mixed-methods evaluation incorporated a pre-post study. Descriptive statistics were used to summarise the socio-demographic data, group attendance and home practice. Differences in DASS 21 and K10 scores from pre to post-intervention were tested using the nonparametric sign test for paired samples (two-sided). Multiple linear regression analysis was performed to determine the effects of selected sociodemographic variables, group attendance and home practice on clinical outcomes, based on intention to treat. Content analysis was used to examine the qualitative data.

Results

The program attracted 168 Arabic speakers and 103 Bangla speakers aged 16 years and over, mostly women. Cultural acceptability was evident in the overall 80% completion rate, with 78% of Arabic speakers and 84% of Bangla speakers retained. Both language groups showed clinically and statistically significant improvements in mental health outcomes on the DASS21 and K10. Thirty new referrals were made to mental health services. Participant feedback emphasised the benefits for their everyday lives. All but one participant reported sharing the mindfulness skills with others.

Conclusions

Across multiple and diverse groups of Arabic and Bangla speakers in Sydney, the community-based group mindfulness program was shown to have high levels of cultural acceptability and relevance. It resulted in clinically and statistically significant improvements in mental health outcomes, facilitated access to mental health care and boosted mental health literacy. This innovative, low-intensity, in-language mental health intervention that was originally developed for Arabic speakers is scalable. It is also transferable—with cultural tailoring—to Bangla speakers.
Attentional variability and avoidance of hostile stimuli decrease aggression in Chinese male juvenile delinquents
Authors: Zhao Ziyi , Yu Xianglian , Ren Zhihong , Zhang Lin , Li Xu
Published: April 2021

Background

As a prominent issue worldwide, juveniles’ aggressive and violent crimes have attracted much interest in recent years. Based on the social information processing model, the present study aimed to evaluate the Chinese male juvenile delinquents’ attention bias towards hostile stimuli from both static and dynamic perspectives. Additionally, the predictive effect of attention bias on aggressive behavior and the moderating effect of group (juvenile delinquents and the controls with no criminal history) were also investigated.

Methods

The hostile attention bias and aggressive behavior of 76 juvenile delinquents (Mage = 17.5 years, SD = 0.59 years) and 67 controls (Mage = 18.3 years, SD = 0.73 years) were measured with the emotional dot-probe task, emotional Stroop task, and the Chinese version of the Buss & Perry aggression questionnaire, respectively.

Results

The results showed that compared with controls, juvenile delinquents showed more attention biases towards hostile faces and words, and demonstrated higher levels of physical aggression and anger. Furthermore, the type of participants moderated the relationship between hostile attention bias and aggressive behavior. For juvenile delinquents, attention bias away from hostile stimuli and attention variability negatively predicted anger, while for controls, attention variability positively predicted self-directed aggression.

Conclusion

Attentional variability and avoidance of hostile stimuli are expected to reduce the aggressive level of Chinese male juvenile delinquents. The relationship between attention bias and aggression should be further considered and applied in the clinical practice.