bluuebunny/crossref_metadata_2025 huggingface dataset:
Silencing of GhORP_A02 enhances drought tolerance in Gossypium hirsutum
Authors: Tajo Sani Muhammad , Pan Zhaoe , Jia Yinhua , He Shoupu , Chen Baojun , Sadau Salisu Bello , KM Yusuf , Ajadi Aboleri Adijat , Nazir Mian Faisal , Auta Umar , Geng Xiaoli , Du Xiongming
Published: January 2023

Background

ORP (Oxysterol-binding protein-related proteins) genes play a role in lipid metabolism, vesicular transferring and signaling, and non-vesicular sterol transport. However, no systematic identification and analysis of ORP genes have been reported in cotton.

Result

In this study, we identified 14, 14, 7, and 7 ORP genes in G. hirsutum, G. barbadense, G. arboreum, and G. raimondii, respectively. Phylogenetic analysis showed that all ORP genes could be classified into four groups. Gene structure and conserved motif analysis suggest that the function of this gene family was conserved. The Ka/Ks analysis showed that this gene family was exposed to purifying selection during evolution. Transcriptome data showed that four ORP genes, especially GhORP_A02, were induced by abiotic stress treatment. The cis-acting elements in the ORP promoters were responsive to phytohormones and various abiotic stresses. The silenced plants of GhORP_A02 were more sensitive to drought stress when compared to control.

Conclusion

The major finding of this study shed light on the potential role of ORP genes in abiotic stress and provided a fundamental resource for further analysis in cotton.
Comparative proteomic analysis of seminal plasma exosomes in buffalo with high and low sperm motility
Authors: Yu Kai , Xiao Kai , Sun Qin-qiang , Liu Run-feng , Huang Liang-feng , Zhang Peng-fei , Xu Hui-yan , Lu Yang-qing , Fu Qiang
Published: January 2023

Background

Exosomes are nanosized membranous vesicles secreted by various types of cells, which facilitate intercellular communication by transporting bioactive compounds. Exosomes are abundant in biological fluids including semen, and their protein composition and the potential of seminal plasma exosomes (SPEs) as fertility biomarkers were elucidated in humans, however, little information is available regarding buffalo (Bubalus bubalis). Here, we examined protein correlation between spermatozoa, seminal plasma (SP), and SPEs, and we compared and analyzed protein differences between high-motility (H-motility) and low-motility (L-motility) SPEs in buffalo.

Results

SPEs were concentrated and purified by ultracentrifugation combined with sucrose density gradient centrifugation, followed by verification using western blotting, nanoparticle tracking analysis, and transmission electron microscopy. Protein composition in spermatozoa, SP and SPEs, and protein difference in H- and L-motility SPEs were identified by LC-MS/MS proteomic analysis and were functionally analyzed through comprehensive bioinformatics. Many SPEs proteins originated from spermatozoa and SP, and nearly one third were also present in spermatozoa and SP. A series of proteins associated with reproductive processes including sperm capacitation, spermatid differentiation, fertilization, sperm-egg recognition, membrane fusion, and acrosome reaction were integrated in a functional network. Comparative proteomic analyses showed 119 down-regulated and 41 up-regulated proteins in L-motility SPEs, compared with H-motility SPEs. Gene Ontology (GO) enrichment of differentially expressed proteins (DEPs) showed that most differential proteins were located in sperm and vesicles, with activities of hydrolase and metalloproteinase, and were involved in sperm-egg recognition, fertilization, single fertilization, and sperm-zona pellucida binding processes, etc. Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis showed that differential proteins were mainly involved in the PPRP signaling pathway, calcium signaling pathway, and cAMP signaling pathway, among others. Furthermore, 6 proteins associated with reproduction were validated by parallel reaction monitoring analysis.

Conclusion

This study provides a comprehensive description of the seminal plasma exosome proteome and may be of use for further screening of biomarkers associated with male infertility.
Prevalence and molecular characterization of Mycobacterium tuberculosis complex in cattle and humans, Maiduguri, Borno state, Nigeria: a cross-sectional study
Authors: Kwaghe Ayi Vandi , Ameh James Agbo , Kudi Caleb Ayuba , Ambali Abdul-Ganiyu , Adesokan Hezekiah Kehinde , Akinseye Victor Oluwatoyin , Adelakun Olubukola Deborah , Usman Joy Gararawa , Cadmus Simeon Idowu
Published: January 2023

Introduction

Globally, the highest burden of bovine and human tuberculosis resides in Africa and Asia. Tuberculosis (TB) is the second leading single infectious killer after severe acute respiratory syndrome corona virus-2 (SARSCOV-2). Bovine TB remains a treat to wild and domesticated animals, humans and hinders international trade in endemic countries like Nigeria. We aimed at determining the prevalence of bovine and human tuberculosis, and the spoligotypes ofMycobacterium tuberculosiscomplex in cattle and humans in Maiduguri.

Methods

We conducted a cross sectional study on bovine and human tuberculosis in Maiduguri, Borno state. We calculated sample size using the method of Thrusfield. Lesions suggestive of TB from 160 slaughtered cattle were obtained from Maiduguri Central Abattoir. Sputum samples from humans; 82 abattoir workers and 147 suspected TB patients from hospitals/clinics were obtained. Lesions and sputum samples were cultured for the isolation ofMycobacteriumspp. Positive cultures were subjected genus typing, deletion analysis and selected isolates were spoligotyped. Data was analysed using SPSS VERSION 16.0.

Results

Prevalence of 32.5% (52/160) was obtained in cattle. Damboa local government area (LGA), where majority of the infected animals were obtained from had 35.5% bTB prevalence. All categories analysed (breed, age, sex, body conformation and score) hadP-values that were not significant (P > 0.05). Sputum culture revealed a prevalence of 3.7% (3/82) from abattoir workers and 12.2% from hospitals/clinics. A significantP-value (0.03) was obtained when positive culture from abattoir and that of hospitals/clinics were compared. Out of the 52 culture positive isolates obtained from cattle, 26 (50%) belonged toM. tuberculosiscomplex (MTC) and 17/26 (65.4%) were characterized asM. bovis. In humans, 7/12 (58.3%) MTC obtained were characterized asM. tuberculosis. Spoligotyping revealed SB0944 and SB1025 in cattle, while SIT838, SIT61 of LAM10_CAM and SIT1054, SIT46 of Haarlem (H) families were obtained from humans.

Conclusions

Cattle in Damboa LGA need to be screened for bTB as majority of the infected animals were brought from there. Our findings revealed the presence of SB0944 and SB1025 spoligotypes from cattle in Borno state. We isolatedM. tuberculosisstrain of the H family mainly domiciled in Europe from humans.
How general practitioners perceive the aging trajectory of oldest-old - A qualitative study
Authors: Escourrou Emile , Joyeux Thomas , Guilhem Matthieu , Oustric Stéphane , Gardette Virginie
Published: January 2023

Background

A new population of older people is growing: the oldest-old. The care of the oldest-old (individuals aged 90 and over) is a new challenge in primary care. This study aimed to analyze the perception of General Practitioners (GP) on (1) the aging process of their patients up to a very advanced age, (2) how to adapt their practice to the care of these patients.

Methods

We conducted a qualitative study using focus group (face to face) and individual (video call) interviews of GPs in southwest France. The sampling was purposive. We analyzed the interviews using an inductive approach based on the phases of thematic analysis. We used researchers’ triangulation during the process. Collection was concluded when saturation was reached.

Results

Three focus groups and one individual interview were conducted with a total of seventeen general practitioners. GP perception concerning aging and very advanced age were based on their personal experience and their daily clinical practice. Aging was perceived as an individual, unconscious, unpredictable and irreversible phenomenon. The shift towards “very old age” appeared inevitable. It could be a physical or psychological shift, or patients neglecting themselves or lacking a project. The care of the oldest-old became more specific and individual, adapted to the wishes of the patient. Those adaptations involve medical disengagement to focus on the most essential outcomes. The objectives of health care needed to be less strict with limited invasive practices. Prevention needed to focus mainly on prevention of falls and limitation of functional decline.

Conclusion

GPs identified an inevitable and unpredictable shift from old age to very old age. The adaption of the theory of disengagement allowed us to identify a medical disengagement of the GPs in the care of their oldest patients.
A prospective patient registry to monitor safety, effectiveness, and utilisation of bedaquiline in patients with multidrug-resistant tuberculosis in South Korea
Authors: Shim Tae Sun , Pai Helen , Mok JeongHa , Lee Seung Heon , Kwon Yong-Soo , Choi Jae Chol , Park JaeSeok , Birmingham Eileen , Mao Gary , Alquier Lori , Davis Kourtney , Thoret-Bauchet Florence , Kim Ji Hyun , Kim Hyeongyeong , Bakare Nyasha
Published: January 2023

Background

Multidrug-resistant tuberculosis (MDR-TB) represents a major public health concern, with an ongoing need for new effective treatments. Bedaquiline is an oral diarylquinoline that has shown encouraging treatment success and culture conversion rates in MDR-TB.

Methods

A South Korean patient registry was set up across 19 centres between 2016 and 2018 for the prospective collection of data from patients with MDR-TB who received either a bedaquiline-containing or a non-bedaquiline-containing regimen. Treatment was at the physician’s discretion (bedaquiline use requiring approval by special committee) and was based on patient characteristics, disease status, and local treatment guidelines.

Results

The safety population included 172 patients (88 bedaquiline and 84 non-bedaquiline). The mean (standard deviation, SD) duration of follow-up was 24.3 (9.5) months. Mean (SD) durations of treatment were 5.4 (1.8) months in bedaquiline-treated patients and 15.7 (6.7) months in the non-bedaquiline group. Treatment success (cured and treatment completed according to WHO 2013 treatment outcome definitions) was achieved by 56.3% of bedaquiline-treated and 45.2% of non-bedaquiline-treated patients. Sputum culture conversion rates were 90.4% and 83.7% with and without bedaquiline, respectively. Diarrhoea and nausea were the most frequently reported treatment-emergent adverse events (TEAEs) in the bedaquiline group (27.3% [24/88] and 22.7% [20/88], respectively). The most frequent bedaquiline-related TEAEs were prolonged QT interval (10.2%; 9/88), and diarrhoea and nausea (9.1% each; 8/88). QT interval prolongation was reported in 19.3% (17/88) of bedaquiline-treated and 2.4% (2/84) of non-bedaquiline-treated patients, but bedaquiline was not discontinued for any patient for this reason. There were 13 (14.7%) and three (3.6%) deaths in the bedaquiline-treated and non-bedaquiline groups, respectively. Review of fatal cases revealed no unexpected safety findings, and no deaths were bedaquiline-related. The most common cause of death was worsening cancer (three patients). Patients in the bedaquiline group tended to have poorer baseline risk profiles than non-bedaquiline patients and were more likely to have relapsed or already failed second-line treatment. Interpretation of mortality data was complicated by high rates of loss to follow-up in both groups.

Conclusions

The South Korean registry findings support previous risk/benefit observations and the continued use of bedaquiline as part of combination therapy in patients with MDR-TB.
Acceleration of knee magnetic resonance imaging using a combination of compressed sensing and commercially available deep learning reconstruction: a preliminary study
Authors: Akai Hiroyuki , Yasaka Koichiro , Sugawara Haruto , Tajima Taku , Kamitani Masaru , Furuta Toshihiro , Akahane Masaaki , Yoshioka Naoki , Ohtomo Kuni , Abe Osamu , Kiryu Shigeru
Published: January 2023

Purpose

To evaluate whether deep learning reconstruction (DLR) accelerates the acquisition of 1.5-T magnetic resonance imaging (MRI) knee data without image deterioration.

Materials and methods

Twenty-one healthy volunteers underwent MRI of the right knee on a 1.5-T MRI scanner. Proton-density-weighted images with one or four numbers of signal averages (NSAs) were obtained via compressed sensing, and DLR was applied to the images with 1 NSA to obtain 1NSA-DLR images. The 1NSA-DLR and 4NSA images were compared objectively (by deriving the signal-to-noise ratios of the lateral and the medial menisci and the contrast-to-noise ratios of the lateral and the medial menisci and articular cartilages) and subjectively (in terms of the visibility of the anterior cruciate ligament, the medial collateral ligament, the medial and lateral menisci, and bone) and in terms of image noise, artifacts, and overall diagnostic acceptability. The paired t-test and Wilcoxon signed-rank test were used for statistical analyses.

Results

The 1NSA-DLR images were obtained within 100 s. The signal-to-noise ratios (lateral: 3.27 ± 0.30 vs. 1.90 ± 0.13, medial: 2.71 ± 0.24 vs. 1.80 ± 0.15, both p < 0.001) and contrast-to-noise ratios (lateral: 2.61 ± 0.51 vs. 2.18 ± 0.58, medial 2.19 ± 0.32 vs. 1.97 ± 0.36, both p < 0.001) were significantly higher for 1NSA-DLR than 4NSA images. Subjectively, all anatomical structures (except bone) were significantly clearer on the 1NSA-DLR than on the 4NSA images. Also, in the former images, the noise was lower, and the overall diagnostic acceptability was higher.

Conclusion

Compared with the 4NSA images, the 1NSA-DLR images exhibited less noise, higher overall image quality, and allowed more precise visualization of the menisci and ligaments.
Recurrence and survival of patients with stage III endometrial cancer after radical surgery followed by adjuvant chemo- or chemoradiotherapy: a systematic review and meta-analysis
Authors: Cao Si-yu , Fan Yu , Zhang Yu-fei , Ruan Jia-ying , Mu Yi , Li Jin-ke
Published: January 2023

Objective

To compare recurrence and survival in patients with stage III endometrial cancer after radical surgery, followed by either adjuvant chemoradiotherapy (ACR) or adjuvant chemotherapy (AC).

Methods

We searched for relevant studies in PubMed Central, Embase and the Cochrane Central Register of Controlled Trials. Data were pooled on rates of recurrence as well as rates of progression-free, disease-free and overall survival. Heterogeneity was evaluated using the I2test. Subgroup and sensitivity analyses were performed to identify potential sources of heterogeneity.

Results

Data from 18,375 patients in 15 retrospective studies and one randomized controlled trial were meta-analyzed. Compared to the AC group, the ACR showed significantly lower risk of local recurrence (OR 0.43, 95%CI 0.32–0.59) and total recurrence (OR 0.72, 95%CI 0.58–0.89). ACR was also associated with significantly better overall survival (HR 0.66, 95%CI 0.57–0.76), progression-free survival (HR 0.56, 95%CI 0.39–0.81) and disease-free survival (HR 0.66, 95%CI 0.53–0.83).

Conclusions

Adding adjuvant radiotherapy to adjuvant chemotherapy after radical surgery may significantly reduce risk of local and overall recurrence, while significantly improving survival of patients with stage III endometrial cancer.
Investigation of contrast visual acuity with rigid gas permeable contact lenses after penetrating Keratoplasty
Authors: Zhang Ju , Lin Xiao , Wang Xinhai , Cheng Zhiwei , Li Xiaoxiao , He Jicang , Shi Weiyun , Gao Hua
Published: January 2023

Background

To investigate the effects of rigid gas permeable contact lens (RGP-CL) wear on contrast visual acuity in patients after penetrating keratoplasty.

Methods

Nineteen patients (19 eyes), aged 30.45 ± 5.83 years, who had received penetrating keratoplasty and were successfully fitted with RGP-CLs at our hospital from July 2017 to June 2018 were included. Contrast visual acuities at 100%, 25%, and 10% with spectacles and RGP-CLs were analyzed using the Chi-square test. The wavefront aberrations at the anterior surface of the cornea before and 1 month after RGP-CL wear were compared using the matched sample t-test.

Results

The mean best spectacle-corrected visual acuities were 0.390 ± 0.135 logMAR, 0.706 ± 0.182 logMAR, and 0.952 ± 0.223 logMAR at the 100%, 25%, and 10% contrast levels, respectively, which were significantly lower than the RGP-CL-corrected visions at the three levels (0.255 ± 0.133 logMAR, 0.488 ± 0.168 logMAR, and 0.737 ± 0.159 logMAR; allP < 0.001). The vision losses with RGP-CLs were 0.231 ± 0.099 logMAR and 0.466 ± 0.094 logMAR at the 25% and 10% contrast levels, respectively. The Zernike spherical aberration Z04was reduced from 3.734 ± 1.061 μm to 2.622 ± 0.725 μm after wearing the RGP-CLs (P ≤ 0.001). The astigmatism parameters of Z− 22and Z22were also reduced from 3.761 ± 2.309 μm and 3.316 ± 2.147 μm to 2.637 ± 1.722 μm and 2.016 ± 1.184 μm, respectively (P < 0.05).

Conclusion

For post-keratoplasty patients, RGP-CLs can help to improve visual performance, especially low contrast visual acuity. The improvement may be related to the reduction of corneal aberrations, mainly the spherical and astigmatism aberrations.
Is medical home care adequacy associated with educational service use in children and youth with autism spectrum disorder (ASD)?
Authors: Rizk Sabrin , Ngui Emmanuel , Benevides Teal W. , Moerchen Victoria A. , Khetani Mary , Barnekow Kris
Published: January 2023

Background

The American Academy of Pediatrics (AAP) recommends medical home care for children and youth with autism spectrum disorder (ASD) for health needs. Children and youth with ASD also receive educational services for cognitive, social, and behavioral needs. We measured whether inadequate medical home care was significantly associated with current educational service use, controlling for sociodemographic factors.

Methods

We analyzed the 2016/2017 National Survey of Children’s Health (NSCH) on 1,248 children and youth with ASD ages 1–17. Inadequate medical home care was operationalized as negative or missing responses to at least one medical home component. Educational service use was defined as current service use under individualized family service plans (IFSP) and individualized education programs (IEP).

Results

Inadequate medical home care was significantly associated with higher likelihood of current educational service use (aOR = 1.95, 95% CI [1.10, 3.44], p = 0.03). After adjustment, older children (aOR = 0.91, 95% CI [0.84, 0.99], p = 0.03), lower maternal health (aOR = 0.52, 95% CI [0.29, 0.94], p = 0.03), and children without other special health care factors (aOR = 0.38, 95% CI [0.17–0.85], p = 0.02) had significantly lower odds of current educational service use.

Conclusions

Inadequate medical home care yielded higher odds of current educational service use. Child’s age, maternal health, and lack of other special health care factors were associated with lower odds of current educational service use. Future research should examine medical home care defined in the NSCH and improving educational service use via medical home care.
Neural responses to social decision-making in suicide attempters with mental disorders
Authors: Liu Shuang , Duan Moxin , Sun Yiwei , Wang Lingling , An Li , Ming Dong
Published: January 2023

Background

Decision-making deficits have been reported in suicide attempters and may be a neuropsychological trait of vulnerability to suicidal behavior. However, little is known about how neural activity is altered in decision-making. This study aimed to investigate the neural responses in suicide attempters with mental disorders during social decision-making. Electroencephalography (EEG) were recorded from 52 patients with mental disorders with past suicide attempts (SAs = 26) and without past suicide attempts (NSAs = 26), as well as from 22 age- and sex- matched healthy controls (HCs) during the Ultimatum Game (UG), which is a typical paradigm to investigate the responses to fair and unfair decision-making.

Methods

MINI 5.0 interview and self report questionnaire were used to make mental diagnosis and suicide behavior assessment for individuals. Event-related potential (ERP) and phase-amplitude coupling (PAC) were extracted to quantify the neural activity. Furthermore, Spearman correlation and logistic regression analyses were conducted to identify the risk factors of suicidal behavior.

Results

ERP analysis demonstrated that SA patients had decreased P2 amplitude and prolonged P2 latency when receiving unfair offers. Moreover, SA patients exhibited greater negative-going feedback-related negativity (FRN) to unfair offers compared to fair ones, whereas such a phenomenon was absent in NSA and HC groups. These results revealed that SA patients had a stronger fairness principle and a disregard toward the cost of punishment in social decision-making. Furthermore, theta-gamma and beta-gamma PAC were involved in decision-making, with compromised neural coordination in the frontal, central, and temporal regions in SA patients, suggesting cognitive dysfunction during social interaction. Statistically significant variables were used in logistic regression analysis. The area under receiver operating characteristic curve in the logistic regression model was 0.91 for SA/HC and 0.84 for SA/NSA.

Conclusions

Our findings emphasize that suicide attempts in patients with mental disorders are associated with abnormal decision-making. P2, theta-gamma PAC, and beta-gamma PAC may be neuro-electrophysiological biomarkers associated with decision-making. These results provide neurophysiological signatures of suicidal behavior.
Application of SARIMA model in forecasting and analyzing inpatient cases of acute mountain sickness
Authors: Liu Jianchao , Yu Fangfang , Song Han
Published: January 2023

Background

Acute Mountain Sickness (AMS) is typically triggered by hypoxia under high altitude conditions. Currently, rule of time among AMS inpatients was not clear. Thus, this study aimed to analyze the time distribution of AMS inpatients in the past ten years and construct a prediction model of AMS hospitalized cases.

Methods

We retrospectively collected medical records of AMS inpatients admitted to the military hospitals from January 2009 to December 2018 and analyzed the time series characteristics. Seasonal Auto-Regressive Integrated Moving Average (SARIMA) was established through training data to finally forecast in the test data set.

Results

A total of 22 663 inpatients were included in this study and recorded monthly, with predominant peak annually, early spring (March) and mid-to-late summer (July to August), respectively. Using the training data from January 2009 to December 2017, the model SARIMA (1, 1, 1) (1, 0, 1) 12 was employed to predict the test data from January 2018 to December 2018. In 2018, the total predicted value after adjustment was 9.24%, less than the actual value.

Conclusion

AMS inpatients have obvious periodicity and seasonality. The SARIMA model has good fitting ability and high short-term prediction accuracy. It can help explore the characteristics of AMS disease and provide decision-making basis for allocation of relevant medical resources for AMS inpatients.
Donor site morbidity after computer assisted surgical reconstruction of the mandible using deep circumflex iliac artery grafts: a cross sectional study
Authors: Brandenburg Leonard Simon , Voss Pit Jacob , Mischkowsky Thomas , Kühle Jan , Ermer Michael Andreas , Weingart Julia Vera , Rothweiler René Marcel , Metzger Marc Christian , Schmelzeisen Rainer , Poxleitner Philipp
Published: January 2023

Background

Computer Assisted Design and Computer Assisted Manufacturing (CAD/CAM) have revolutionized oncologic surgery of the head and neck. A multitude of benefits of this technique has been described, but there are only few reports of donor site comorbidity following CAD/CAM surgery.

Methods

This study investigated comorbidity of the hip following deep circumflex iliac artery (DCIA) graft raising using CAD/CAM techniques. A cross-sectional examination was performed to determine range of motion, muscle strength and nerve disturbances. Furthermore, correlations between graft volume and skin incision length with postoperative donor site morbidity were assessed using Spearman's rank correlation, linear regression and analysis of variance (ANOVA).

Results

Fifteen patients with a mean graft volume of 21.2 ± 5.7 cm3 and a mean incision length of 228.0 ± 30.0 mm were included. Patients reported of noticeable physical limitations in daily life activities (12.3 ± 11.9 weeks) and athletic activities (38.4 ± 40.0 weeks in mean) following surgery. Graft volume significantly correlated with the duration of the use of walking aids (R = 0.57; p = 0.033) and impairment in daily life activities (R = 0.65; p = 0.012). The length of the scar of the donor-site showed a statistically significant association with postoperative iliohypogastric nerve deficits (F = 4.4, p = 0.037). Patients with anaesthaesia of a peripheral cutaneous nerve had a larger mean scar length (280 ± 30.0 mm) than subjects with hypaesthesia (245 ± 10.1 mm) or no complaints (216 ± 27.7 mm).

Conclusions

Despite sophisticated planning options in modern CAD/CAM surgery, comorbidity of the donor site following  iliac graft harvesting is still a problem. This study is the first to investigate comorbidity after DCIA graft raising in a patient group treated exclusively with CAD/CAM techniques. The results indicate that a minimal invasive approach in terms of small graft volumes and small skin incisions could help to reduce postoperative symptomatology.

Trial registration Retrospectively registered at the German Clinical Trials Register (DRKS-ID: DRKS00029066); registration date: 23/05/2022
Dental management of a pediatric patient with progressive familial intrahepatic cholestasis having dental anomalies: a case report and brief review of the literature
Authors: Yazdizadeh Mina , Sharifi Maryam , Torabi Parizi Arefeh , Alipour Firoozeh , Ghasempuor Maryam , Zanguei Elham , Yazdizadeh Maryam
Published: January 2023

Background

Progressive familial intrahepatic cholestasis is a heterogeneous group of disorders, leading to intrahepatic cholestasis, with the possibility of chronic liver failure and biliary cirrhosis. Oligodontia is either the manifestation of a specific syndrome or is non-syndromic. To the best of our knowledge, this is the first case report of type 3 progressive familial intrahepatic cholestasis and concurrent oligodontia, craniosynostosis, dens in dente, taurodontism, and delayed permanent dentition in the medical and dental literature.

Case presentation

We present the dental and medical histories and comprehensive dental management of a girl with type 3 progressive familial intrahepatic cholestasis and several dental anomalies, who was referred to a dental clinic due to severe dental caries and pain.

Conclusion

Our findings suggest that PFIC with manifestations as oligodontia, craniosynostosis, dens in dente, taurodontism, and delayed permanent dentition, might indicate an unknown syndrome; otherwise, the craniofacial anomalies are the manifestations of an independent disease coinciding with PFIC. Moreover, our case is a good example of the importance of timely medical and dental care in confining further health-related complications. The patient was able to ingest without any pain or discomfort after receiving proper dental management.
Trends in incidence, survival and initial treatments of gynecological sarcoma: a retrospective analysis of the United States subpopulation
Authors: He Xi , Dong Qiang , Weng Changfang , Gu Jianfen , Yang Qiao , Yang Guangrong
Published: January 2023

Background

To estimate the incidence, prevalence and incidence-based mortality in patients with gynecologic sarcoma (GS), and described the trends of survival and initial treatments in the US by using the Surveillance, Epidemiology, and End Results (SEER) database.

Methods

GS cases aged 20 years or older between 1975 and 2015 were identified from SEER 9 registries. Incidence, prevalence, and incidence-based mortality were estimated, all rates were age adjusted to the 2000 US standard population and presented as per 100,000 persons. Annual percentage change (APC) and average APC (AAPC) were calculated to describe the trends. In addition, stage distribution, cancer-specific survival (CSS) and initial treatment pattern over time were also reported.

Results

The overall age-adjusted incidence of GS increased from 2.38 to 3.41 per 100,000 persons from 1975 to 2015, with an AAPC of 1.0 (P < 0.05), and the AAPC increased to 1.3 (P < 0.05) in the last decade. The incidence of population aged ≥ 55 years was three or more times than that of population aged 20–54 year from 1975 to 2015. Corpus and uterus GS was the main subtype, and it increased significantly during last three decades (an APC of 1.5). In addition, the prevalence of corpus and uterus GS increased mostly among all GSs. The incidence of GS with regional and distant stages increased pronouncedly, but not for local stage. GS cases showed increasing 3-year and 5-year CSS rates except for other sites GS. Approximately 87.7% GS cases received surgery during the first-course treatment, but the proportion decreased over years. In contrast, the proportion of receiving multiple treatment modalities increased.

Conclusions

The incidence of GS increased significantly with improved survival, which might due to the strategy of combination of multiple treatment. However, no obvious improvement on the early detection of GS was found, which should be facilitated to further improve the prognosis of GS.
Costs of traditional Chinese medicine treatment for inpatients with lung cancer in China: a national study
Authors: Nie Hanlin , Han Zhaoran , Nicholas Stephen , Maitland Elizabeth , Huang Zhengwei , Chen Sisi , Tuo Zegui , Ma Yong , Shi Xuefeng
Published: January 2023

Background

Traditional Chinese Medicine (TCM) has long been a widely recognized medical approach and has been covered by China’s basic medical insurance schemes to treat lung cancer. But there was a lack of nationwide research to illustrate the impact of the use of TCM on lung cancer patients’ economic burden in mainland China. Therefore, we conduct a nationwide study to reveal whether the use of TCM could increase or decrease the medical expenditure of lung cancer inpatients in mainland China.

Methods

This is a 7-year cross-sectional study from 2010 to 2016. The data is a random sample of 5% from lung cancer claims data records of Chinese Urban Employee Basic Medical Insurance (UEBMI) and Urban Resident Basic Medical Insurance (URBMI). Mann-Whitney test was used to compare inpatient cost data with positive skewness. Ordinary least squares regression analysis was performed to compare the total TCM users’ hospitalization cost with TCM nonusers’, to examine whether TCM use is the key factor inducing relatively high medical expenditure.

Result

A total of 47,393 lung cancer inpatients were included in this study, with 38,697 (81.7%) of them at least using one kind of TCM approach. The per inpatient medical cost of TCM users was RMB18,798 (USD2,830), which was 65.2% significantly higher than that of TCM nonusers (P < 0.001). The medication cost, conventional medication cost, and nonpharmacy cost of TCM users were all higher than TCM nonusers, illustrating the higher medical cost of TCM users was not induced by TCM only. With confounding factors fixed, there was a positive correlation between TCM cost and conventional medication cost, nonpharmacy cost (Coef. = 0.283 and 0.211, allP < 0.001), indicting synchronous increase of TCM costs and conventional medication cost for TCM users.

Conclusion

The use of TCM could not offset the utilization of conventional medicine, demonstrating TCM mainly played a complementary role but not an alternative role in the inpatient treatment of lung cancer. A joint Clinical Guideline that could balance the use of TCM and Conventional medicine should be developed for the purpose of reducing economic burden for lung cancer inpatients.
Nano-scaled emulsion and nanogel containing Mentha pulegium essential oil: cytotoxicity on human melanoma cells and effects on apoptosis regulator genes
Authors: Azadi Sareh , Osanloo Mahmoud , Zarenezhad Elham , Farjam Mojtaba , Jalali Akram , Ghanbariasad Ali
Published: January 2023

Background

Topical drug delivery using nanoemulsions and nanogels is a promising approach to treating skin disorders such as melanoma.

Methods

In this study, the chemical composition of Mentha pulegium essential oil with five major compounds, including pulegone (68.11%), l-menthone (8.83%), limonene (2.90%), iso-pulegone (2.69%), and iso-menthone (1.48%) was first identified using GC-MS (Gas chromatography–Mass Spectrometry) analysis. Afterward, a nano-scaled emulsion containing the essential oil with a droplet size of 7.70 ± 1 nm was prepared. Nanogel containing the essential oil was then prepared by adding (2% w/v) carboxymethyl cellulose to the nano-scaled emulsion. Moreover, the successful loading of M. pulegium essential oil in the nano-scaled emulsion and nanogel was confirmed using ATR-FTIR (Attenuated total reflectance-Fourier Transform InfraRed) analysis. Then, human A375 melanoma cells were treated with different concentrations of samples, the MTT assay evaluated cell viability, and cell apoptosis was confirmed by flow cytometry. In addition, the expression of apoptotic and anti-apoptotic genes, including Bax and Bcl-2, was evaluated using the qPCR (quantitative Polymerase Chain Reaction) technique.

Results

The results showed that cell viability was reduced by 90 and 45% after treatment with 300 μg/mL of the nanogel and nano-scaled emulsion. As confirmed by flow cytometry, this effect was mediated by apoptosis. Furthermore, gene expression analysis showed up-regulation of Bax and down-regulation of Bcl-2 genes. Therefore, the prepared nanogel, with high efficacy, could be considered a potent anticancer agent for supplementary medicine and in vivo research.
A critical interpretive synthesis of migrants’ experiences of the Australian health system
Authors: Lakin Kimberly , Kane Sumit
Published: January 2023

While the health of and healthcare use by migrants has received significant scholarly and policy attention in Australia, current debates highlight that a critical examination of the theoretical underpinnings of these inquiries and responses is needed. We conducted a systematic review and critical interpretive synthesis (CIS) to critically examine how the policy and scholarly literature conceptualises migrants’ interactions with and experiences of the Australian health system. Guided by PRISMA, we searched for literature without imposing any limits. We also searched key State and Federal Government websites for relevant policy documents. Our initially broad inclusion criteria became refined as the CIS progressed. We prioritised the likely relevance and theoretical contribution of the papers to our inquiry over methodological quality. The CIS of 104 papers revealed that the Australian scholarly literature and policy documents consistently homogenise and reduce migrants according to an assumed, (1) cultural identity, (2) linguistic affiliation, and/or (3) broad geographic origin. Based on these three critiques and drawing on the theoretical literature, we propose a synthesising argument on how the Australian literature could better conceptualise migrants’ experiences of the Australian health system. We contend that both research and policy should explicitly recognise and engage with the multifaceted and shifting ways that migrants define themselves, generally, and during their encounters with destination country health systems. Engagement with this notion is necessary for also understanding how aspects of migrants’ identities are dynamically co-constructed during their interactions with the health system. These understandings have implications for improving the design and implementation of policies and programs directed at improving the responsiveness of Australia’s health system to the needs and expectations of migrant communities specifically, and destination countries broadly.
The diagnostic accuracy of 332 incisional biopsies in patients with malignant tumors in the musculoskeletal system
Authors: Dirks Michael , Ewerbeck Nicolas K. , Ballhause Tobias M. , Weiß Sebastian , Luebke Andreas , Schlickewei Carsten , Frosch Karl-Heinz , Priemel Matthias
Published: January 2023

Background

It is known that specimen collection followed by histopathological workup is the core of evidence-based medical therapy of musculoskeletal tumors. There exist many controversies about how a biopsy should be performed. While some centers recommend minimal invasive biopsy procedures, mostly the core needle biopsy (CNB), others prefer the incisional biopsy.

Purpose of the study

This study aimed to determine the accuracy of incisional biopsy for malignant tumors in the musculoskeletal system. Moreover, advantages and disadvantages to other biopsy methods are discussed.

Methods

This retrospective, single-center study about 844 incisional biopsies (benign and malignant) analysis the diagnostic accuracy of 332 malignant tumors, concerning the final histopathological result. In addition, surgical complications are analyzed to find the best way to plan and treat patients timely and correct. Secondary endpoints are the patients age, the pure operation time, as well as the type of tumor, and the subsequent therapy.

Results

In summary, incisional biopsy corresponded a sensitivity of 100% for malignancy in 844 incisional biopsies and a specificity of 97.6% in 332 malignant tumors, but it features greater operative expense (incision/suture 23.5 min) and the risk of general anesthesia.

Conclusion

The method of biopsy should be tailored to the individual patient and the experience of the center performing the procedure.
Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency
Authors: Wang Han-lu , Ruan Dan-dan , Wu Min , Ji Yuan-yuan , Hu Xing-xing , Wu Qiu-yan , Zhang Yan-ping , Lin Bin , Hu Ya-nan , Wang Hang , Tang Yi , Fang Zhu-ting , Luo Jie-wei , Liao Li-sheng , Gao Mei-zhu
Published: January 2023

Background

Antithrombin (AT) is the main physiological anticoagulant involved in hemostasis. Hereditary AT deficiency is a rare autosomal dominant thrombotic disease mainly caused by mutations in SERPINC1, which was usually manifested as venous thrombosis and pulmonary embolism. In this study, we analyzed the clinical characteristics and screened for mutant genes in two pedigrees with hereditary AT deficiency, and the functional effects of the pathogenic mutations were evaluated.

Methods

Candidate gene variants were analyzed by next-generation sequencing to screen pathogenic mutations in probands, followed by segregation analysis in families by Sanger sequencing. Mutant and wild-type plasmids were constructed and transfected into HEK293T cells to observe protein expression and cellular localization of SERPINC1. The structure and function of the mutations were analyzed by bioinformatic analyses.

Results

The proband of pedigree A with AT deficiency carried a heterozygous frameshift mutation c.1377delC (p.Asn460Thrfs*20) in SERPINC1 (NM000488.3), a 1377C base deletion in exon 7 resulting in a backward shift of the open reading frame, with termination after translation of 20 residues, and a different residue sequence translated after the frameshift. Bioinformatics analysis suggests that the missing amino acid sequence caused by the frameshift mutation might disrupt the disulfide bond between Cys279 and Cys462 and affect the structural function of the protein. This newly discovered variant is not currently included in the ClinVar and HGMD databases. p.Arg229* resulted in a premature stop codon in exon 4, and bioinformatics analysis suggests that the truncated protein structure lost its domain of interaction with factor IX (Ala414 site) after the deletion of nonsense mutations. However, considering the AT truncation protein resulting from the p.Arg229* variant loss a great proportion of the molecule, we speculate the variant may affect two functional domains HBS and RCL and lack of the corresponding function. The thrombophilia and decreased-AT-activity phenotypes of the two pedigrees were separated from their genetic variants. After lentiviral plasmid transfection into HEK293T cells, the expression level of AT protein decreased in the constructed c.1377delC mutant cells compared to that in the wild-type, which was not only reduced in c.685C > T mutant cells but also showed a significant band at 35 kDa, suggesting a truncated protein. Immunofluorescence localization showed no significant differences in protein localization before and after the mutation.

Conclusions

The p.Asn460Thrfs*20 and p.Arg229* variants of SERPINC1 were responsible for the two hereditary AT deficiency pedigrees, which led to AT deficiency by different mechanisms. The p.Asn460Thrfs*20 variant is reported for the first time.
Klf4-Sirt3/Pparα-Lcad pathway contributes to high phosphate-induced lipid degradation
Authors: Yu Angen , Xu Yichuang , Hogstrand Christer , Zhao Tao , Tan Xiao-Ying , Wei Xiaolei , Song Yu-Feng , Luo Zhi
Published: January 2023

Background

Phosphorus commonly reduces lipid deposition in the vertebrates. However, the underlying mechanisms involved in the process remain unclear.

Methods

Yellow catfish were given three experimental diets with dietary phosphate levels of 3.22, 6.47 and 7.99 g Pi kg− 1, respectively, for 8 weeks. The contents of triglyceride, non-esterified free fatty acids, adenosine triphosphate, nicotinamide adenine dinucleotide, nicotinamide adenine dinucleotide, enzymatic activities, mRNA and protein expression were determined in the intestinal tissues. Hematoxylin and eosin, Oil Red O staining, and transmission electron microscope were performed for intestinal tissues. Primary intestinal epithelial cells were isolated from yellow catfish intestine. Western blot analysis, Immunoprecipitation assays, Immunofluorescence staining, and RNA extraction and quantitative real-time PCR were decided. Luciferase reporter assays and electrophoretic mobility shift assay were used to evaluate the function of Sirt3, PPARα and Lcad promoters.

Results

High dietary phosphate intake activated intestinal phosphate absorption and excretion, and reduced lipid deposition through increasing lipolysis in the intestine. Moreover, phosphate incubation increased the mRNA and protein expression of krüppel like factor 4 (klf4), silent mating-type information regulation 2 homolog 3 (sirt3), peroxisome proliferator activated receptor alpha (pparα) and long chain acyl-CoA dehydrogenase (lcad) in the intestinal epithelial cells (IECs), and klf4 knockdown attenuated the phosphate-induced increase of protein levels of Sirt3, Pparα and Lcad. Further investigation found that Klf4 overexpression increased the activity of sirt3 and pparα promoters, which in turn reduced the acetylation and protein level of Lcad.

Conclusion

Dietary Pi excess induced lipid degradation by the activation of the Klf4-Sirt3/Pparα-Lcad pathway in the intestine and primary IECs.

Graphical Abstract
Association between radiotherapy and risk of second primary malignancies in patients with resectable lung cancer: a population-based study
Authors: Zhou Bolun , Zang Ruochuan , Song Peng , Zhang Moyan , Bie Fenglong , Bai Guangyu , Li Yuan , Huai Qilin , Han Yuning , Gao Shugeng
Published: January 2023

Background

The most common form of treatment for non-metastatic lung cancer is surgery-based combination therapy, which may also include adjuvant radiotherapy or chemotherapy. Second primary malignancies (SPMs) are uncommon but significant radiation side effects in patients with resectable lung cancer, and SPMs have not been adequately investigated. Our study aims to assess the correlations of radiotherapy with the development of SPMs in patients with resectable lung cancer.

Methods

We screened for any primary malignancy that occurred more than five years after the diagnosis of resectable lung cancer. Based on the large cohort of the Surveillance, Epidemiology and End Results database, radiotherapy-correlated risks were estimated using the Poisson regression analysis and the cumulative incidence of SPMs was calculated using Fine-Gray competing risk regression analysis.

Results

Among the 62,435 patients with non-metastatic lung cancer undergoing surgery, a total of 11,341 (18.16%) patients have received radiotherapy. Our findings indicated that radiotherapy was substantially related to a high risk of main second solid malignancies (RR = 1.21; 95%CI, 1.08 to 1.35) and a negligible risk of main second hematologic malignancies (RR = 1.08; 95%CI, 0.84 to 1.37). With the greatest number of patients, the risk of acquiring a second primary gastrointestinal cancer was the highest overall (RR = 1.77; 95 percent CI, 1.44 to 2.15). The cumulative incidence and standardized incidence ratios of SPMs revealed similar findings. Furthermore, the young and the elderly may be more vulnerable, and the highest risk of acquiring most SPMs was seen more than ten years after lung cancer diagnosis. Additionally, more attention should be paid to the second primary gastrointestinal cancer in young individuals with resectable lung cancer.

Conclusion

After receiving radiotherapy, an increased risk of developing second primary solid and gastrointestinal cancers was observed for patients with resectable lung cancer. The prevention of SPMs associated with radiotherapy requires further attention.
D-Mannose prevents bone loss under weightlessness
Authors: Gu Ranli , Liu Hao , Hu Menglong , Zhu Yuan , Liu Xuenan , Wang Feilong , Wu Likun , Song Danyang , Liu Yunsong
Published: January 2023

Background

Astronauts undergo significant microgravity-induced bone loss during space missions, which has become one of the three major medical problems hindering human's long-term space flight. A risk-free and antiresorptive drug is urgently needed to prevent bone loss during space missions. D-mannose is a natural C-2 epimer of D-glucose and is abundant in cranberries. This study aimed to investigate the protective effects and potential mechanisms of D-mannose against bone loss under weightlessness.

Methods

The hind legs of tail-suspended (TS) rats were used to mimic weightlessness on Earth. Rats were administered D-mannose intragastrically. The osteoclastogenic and osteogenic capacity of D-mannose in vitro and in vivo was analyzed by micro-computed tomography, biomechanical assessment, bone histology, serum markers of bone metabolism, cell proliferation assay, quantitative polymerase chain reaction, and western blotting. RNA-seq transcriptomic analysis was performed to detect the underlying mechanisms of D-mannose in bone protection.

Results

The TS rats showed lower bone mineral density (BMD) and poorer bone morphological indices. D-mannose could improve BMD in TS rats. D-mannose inhibited osteoclast proliferation and fusion in vitro, without apparent effects on osteoblasts. RNA-seq transcriptomic analysis showed that D-mannose administration significantly inhibited the cell fusion molecule dendritic cell-specific transmembrane protein (DC-STAMP) and two indispensable transcription factors for osteoclast fusion (c-Fos and nuclear factor of activated T cells 1 [NFATc1]). Finally, TS rats tended to experience dysuria-related urinary tract infections (UTIs), which were suppressed by treatment with D-mannose.

Conclusion

D-mannose protected against bone loss and UTIs in rats under weightlessness. The bone protective effects of D-mannose were mediated by inhibiting osteoclast cell fusion. Our findings provide a potential strategy to protect against bone loss and UTIs during space missions.