bluuebunny/crossref_metadata_2025 huggingface dataset:
Toward a smart health: big data analytics and IoT for real-time miscarriage prediction
Authors: Asri Hiba , Jarir Zahi
Published: March 2023

Background

We are living in an age where data is everywhere and grows up in a very speedy way. Thanks to sensors, mobile phones and social networks, we can gather a hug amount of information to understand human behavior as well as his individual life. In healthcare system, big data analytics and machine learning algorithms prove their effectiveness and efficiency in saving lives and predicting new diseases. This triggered the idea of taking advantages of those tools and algorithms to create systems that involve both doctors and patients in the treatment of disease, predict outcomes and use real-time risk factors from sensors and mobile phones.

Methods

We distinguish three types of data: data from sensors, data from mobile phones and data registered or updated by the patient in a mobile app we created. We take advantages from IoT systems such as Raspberry Pi to collect and process data coming from sensors. All data collected is sent to a NoSql Server to be then analyzed and processed in Databricks Spark. K-means centroid clustering algorithms is used to build the predictive model, create partitions and make predictions. To validate results in term of efficiency and effectiveness, we used clustering validations techniques: Random K, Silhouette and Elbow methods.

Results

The main contribution of our work is the implementation of a new system that has the capability to be applied in several prediction disease researches using Big Data Analytics and IoT. Also, comparing to other studies in literature that use only medical or maternal risk factors from echography; our work had the advantage to use real-time risk factors (maternal and medical) gathered from sensors, react in advance and track diseases. As a case study, we create an e-monitoring real-time miscarriage prediction system to save baby’s lives and help pregnant women. In fact, doctors receive the results of clustering and track theirs patient through our mobile app to react in term of miscarriage to avoid non-suitable outcomes. While pregnant women receive only advices based on their behaviors. The system uses 15 real-time risk factors and our dataset contains more than 1,000,000 JSON files. Elbow method affirm three as the optimal number of clusters and we reach 0.99 as a value of Silhouette method, which is a good sign that clusters are well separated and matched.
Unsupervised hyperspectral image segmentation of films: a hierarchical clustering-based approach
Authors: Liu Lingxi , Delnevo Giovanni , Mirri Silvia
Published: March 2023

Hyperspectral imaging (HSI) has been drastically applied in recent years to cultural heritage (CH) analysis, conservation, and also digital restoration. However, the efficient processing of the large datasets registered remains challenging and still in development. In this paper, we propose to use the hierarchical clustering algorithm (HCA) as an alternative machine learning approach to the most common practices, such as principal component analysis(PCA). HCA has shown its potential in the past decades for spectral data classification and segmentation in many other fields, maximizing the information to be extracted from the high-dimensional spectral dataset via the formation of the agglomerative hierarchical tree. However, to date, there has been very limited implementation of HCA in the field of cultural heritage. Data used in this experiment were acquired on real historic film samples with various degradation degrees, using a custom-made push-broom VNIR hyperspectral camera (380–780nm). With the proposed HCA workflow, multiple samples in the entire dataset were processed simultaneously and the degradation areas with distinctive characteristics were successfully segmented into clusters with various hierarchies. A range of algorithmic parameters was tested, including the grid sizes, metrics, and agglomeration methods, and the best combinations were proposed at the end. This novel application of the semi-automating and unsupervised HCA could provide a basis for future digital unfading, and show the potential to solve other CH problems such as pigment mapping.
Larvicidal activity of the black pepper, Piper nigrum (Fam: Piperaceae) extracts on the cattle tick, Rhipicephalus australis (Acari: Ixodidae)
Authors: Toussirot Marine , Coulerie Paul , Hüe Thomas , Maciuk Alexandre , Kagy Valérie
Published: March 2023

Background

The cattle farming parasite Rhipicephalus australis is the main tick and one of the most important in the world from an economic point of view. Various studies have been developed in order to find plant extracts with effective acaricidal properties and environmentally friendly. Studies involving plant extracts for parasite control on commercial animal herds is a developing area in New Caledonia. Bioactive natural products play an important role as lead compounds in the development of new pesticides.

Results

The ethanolic extract of Piper nigrum L. dried fruits as well as the ethyl acetate extract and the methanolic extract of stems exhibited 100% larvicidal activity (50 mg/mL) against Rh. australis larvae, the cattle tick, an hematophagous parasite. Bioguided fractionation of the ethanolic extract of dried mature fruits using the same assay led to the isolation of five compounds belonging to piperamide family. The structures of isolated compounds were elucidated using spectroscopic methods: ESI-HRMS, 1H- and 13C-NMR spectral data, including DEPT and 2D-NMR experiments (COSY, HSQC, HMBC, and NOESY). These include 1 compound described for the first time in P. nigrum, homopellitorine (2) and 4 known compounds, namely pellitorine (1), pipyaqubine (3), 2-methylpropylamide (4), and N-isobutyl-2,4-eicosadienamide (5).

Conclusion

This first report on the larvicidal activity of P. nigrum extract and pure compounds on this tick species suggests that P. nigrum could be a natural biosourced alternative for the control of the larval stage of Rh. australis.

Graphical Abstract
Estimation of source parameters using a non-Gaussian probability density function in a Bayesian framework
Authors: Yoshimitsu Nana , Maeda Takuto , Sei Tomonari
Published: March 2023

Source parameters represent key factors in seismic hazard assessment and understanding source physics of earthquakes. In addition to conventional grid search approach to estimate source parameters, other approaches have been used recently. This study uses a Bayesian framework, the Markov Chain Monte Carlo method, to estimate source parameters including uncertainty assessment with inter-parameter correlations. The Bayesian calculation method requires to select a probability density function for estimating likelihood and the function can influence calculation reliability. While most studies use a normal distribution, we select an F-distribution due to its suitability for the data in ratio form. Using synthetic data and real observations from induced earthquakes in Oklahoma, we compare the calculation steps for spectral fitting and source parameter estimation using the two probability density functions. The sampling distribution and estimated parameters support the assumption that the F-distribution is well-suited for spectral ratio analysis. Results further show that a sampling distribution can effectively reveal trade-offs and uncertainty among parameters. Sampling distribution trends also reveal data quality criteria that can be used to refine results.

Graphical Abstract
Severe L-band scintillation over low-to-mid latitudes caused by an extreme equatorial plasma bubble: joint observations from ground-based monitors and GOLD
Authors: Sousasantos Jonas , Gomez Socola Josemaria , Rodrigues Fabiano S. , Eastes Richard W. , Brum Christiano G. M. , Terra Pedrina
Published: March 2023

The occurrence of plasma irregularities and ionospheric scintillation over the Caribbean region have been reported in previous studies, but a better understanding of the source and conditions leading to these events is still needed. In December 2021, three ground-based ionospheric scintillation and Total Electron Content monitors were installed at different locations over Puerto Rico to better understand the occurrence of ionospheric irregularities in the region and to quantify their impact on transionospheric signals. Here, the findings for an event that occurred on March 13–14, 2022 are reported. The measurements made by the ground-based instrumentation indicated that ionospheric irregularities and scintillation originated at low latitudes and propagated, subsequently, to mid-latitudes. Imaging of the ionospheric F-region over a wide range of latitudes provided by the GOLD mission confirmed, unequivocally, that the observed irregularities and the scintillation were indeed caused by extreme equatorial plasma bubbles, that is, bubbles that reach abnormally high apex heights. The joint ground- and space-based observations show that plasma bubbles reached apex heights exceeding 2600 km and magnetic dip latitudes beyond 28°. In addition to the identification of extreme plasma bubbles as the source of the ionospheric perturbations over low-to-mid latitudes, GOLD observations also provided experimental evidence of the background ionospheric conditions leading to the abnormally high rise of the plasma bubbles and to severe L-band scintillation. These conditions are in good agreement with the theoretical hypothesis previously proposed.

Graphical Abstract
Good functional outcomes after endoscopic treatment for greater trochanteric pain syndrome
Authors: Karlsson Louise , Quist Philip , Helander Katarina Nilsson , Snaebjörnsson Thorkell , Stålman Anders , Lindman Ida , Öhlin Axel
Published: March 2023

Purpose

Greater trochanteric pain syndrome (GTPS) is a term covering different conditions generating lateral hip pain. Recalcitrant cases may require surgery but there are only a few studies evaluating endoscopic treatment. This study aimed to evaluate the outcome of endoscopically treated GTPS at minimum two years postoperatively using patient‐reported outcome measures (PROMs), and to assess the complication rate associated with endoscopic surgery.

Methods

A total of 33 patients, mean age 43.2 years, 88% women, with a mean symptom duration of 3.5 years, were included in the study. A total of 36 operated hips were included. Pre‐ and at minimum two years postoperatively the patients completed questionnaires consisting of the International Hip Outcome Tool (iHOT‐12) and the Hip Sports Activity scale (HSAS), the Visual analogue scale for overall hip function (VAS‐OHF), the Copenhagen Hip and Groin Outcome Score (HAGOS), the EuroQoL‐5 Dimension Questionnaire (EQ‐5D) and the EQ‐VAS. Complications were assessed using the Clavien‐Dindo classification.

Results

Median follow‐up time was 24.5 months postoperatively. Statistically significant improvements were seen for the following PROMs (p < 0.05); iHOT‐12 (36.3 vs 54.0), HAGOS different subscores (40.8 vs 59.0, 46.5 vs 62.6, 29.9 vs 53.1, 33.5 vs 51.4, 20.7 vs 41.4, 23.4 vs 43.3), EQ‐VAS (55.9 vs 63.3) and EQ‐5D (0.392 vs 0.648). VAS‐OHF and HSAS did not reach significance. There was a 71% satisfaction rate with the surgery. Three Clavien‐Dindo grade 1 and one grade 2 complications were registered postoperatively, with 41% of patients achieving PASS for iHOT‐12 at two years follow‐up.

Conclusion

Endoscopic surgery for greater trochanteric pain syndrome improved patient‐reported outcomes and the procedure was associated with low risk of complications.

Level of evidence

Level IV.
Impacted bone allograft personalised by a novel 3D printed customization kit produces high surgical accuracy in medial opening wedge high tibial osteotomy: a pilot study
Authors: Van Genechten Wouter , Van Haver Annemieke , Bartholomeeusen Stijn , Claes Toon , Van Beek Nathalie , Michielsen Jozef , Claes Steven , Verdonk Peter
Published: March 2023

Purpose

Contemporary medial opening wedge high tibial osteotomy (MOWHTO) still seems to struggle with inconsistent accuracy outcomes. Our objective was to assess surgical accuracy and short‐term clinical outcomes when using 3D planning and a patient‐specific instrumentation (PSI) kit to prepare customized bone allografts.

Methods

Thirty subjects (age 48y ± 13) were included in a double‐center prospective case series. A low‐dose CT‐scan was performed to generate 3D bone models, a MOWHTO was simulated, and PSI was designed and 3D printed based on the complementary negative of the planned osteotomy gap. Clinical outcome was assessed at two, four, 12 weeks and one year using NRS, KOOS, UCLA activity score, EQ‐5D and anchor questions. A linear‐mixed model approach was implemented for data analysis.

Results

Preoperative 3D values were 175.0° ± 2.2 mechanical tibiofemoral angle (mTFA), 85.0° ± 3.0 medial proximal tibial angle (MPTA), and 94.1° ± 3.4 medial posterior tibial slope (MPTS). Target planning ranged from slight varus to the lateral tibial spine (slight valgus). Postoperative 3D analysis showed an accuracy of 1.1° ± 0.7 ΔMPTA (p = 0.04) and 1.2° ± 1.2 ΔMPTS (p = 0.11). NRS decreased from baseline 6.1 ± 1.9 to 2.7 ± 1.9 at four weeks (p < 0.001) and 1.7 ± 1.9 at one year (p < 0.001). KOOS increased from 31.4 ± 17.6 to 50.6 ± 20.6 at 12 weeks (p < 0.001) and to 71.8 ± 15.6 at one year (p < 0.001).

Conclusion

The study suggests that 3D printed instrumentation to personalize structural bone allograft is a viable alternative method in MOWHTO that has the benefit of optimizing surgical accuracy while providing early and consistent pain relief after surgery.
Insulin signaling in skeletal muscle during inflammation and/or immobilisation
Authors: Grunow Julius J. , Gan Thomas , Lewald Heidrun , Martyn J. A. Jeevendra , Blobner Manfred , Schaller Stefan J.
Published: March 2023

Background

The decline in the downstream signal transduction pathway of anabolic hormone, insulin, could play a key role in the muscle atrophy and insulin resistance observed in patients with intensive care unit acquired weakness (ICUAW). This study investigated the impact of immobilisation via surgical knee and ankle fixation and inflammation via Corynebacterium parvum injection, alone and in combination, as risk factors for altering insulin transduction and, therefore, their role in ICUAW.

Results

Muscle weight was significantly decreased due to immobilisation [estimated effect size (95% CI) − 0.10 g (− 0.12 to − 0.08); p < 0.001] or inflammation [estimated effect size (95% CI) − 0.11 g (− 0.13 to − 0.09); p < 0.001] with an additive effect of both combined (p = 0.024). pAkt was only detectable after insulin stimulation [estimated effect size (95% CI) 85.1-fold (76.2 to 94.0); p < 0.001] irrespective of the group and phosphorylation was not impaired by the different perturbations. Nevertheless, the phosphorylation of GSK3 observed in the control group after insulin stimulation was decreased in the immobilisation [estimated effect size (95% CI) − 40.2 (− 45.6 to − 34.8)] and inflammation [estimated effect size (95% CI) − 55.0 (− 60.4 to − 49.5)] groups. The expression of phosphorylated GS (pGS) was decreased after insulin stimulation in the control group and significantly increased in the immobilisation [estimated effect size (95% CI) 70.6-fold (58.8 to 82.4)] and inflammation [estimated effect size (95% CI) 96.7 (85.0 to 108.5)] groups.

Conclusions

Both immobilisation and inflammation significantly induce insulin resistance, i.e., impair the insulin signaling pathway downstream of Akt causing insufficient GSK phosphorylation and, therefore, its activation which caused increased glycogen synthase phosphorylation, which could contribute to muscle atrophy of immobilisation and inflammation.
The diagnostic value of contrast-enhanced ultrasonography in breast ductal abnormalities
Authors: Wang Bo , Yang Di , Zhang Xuan , Gong XuanTong , Xu Tong , Han Jie , Ren YinPeng , Zou ShuangMei , Li Lin , Wang Yong
Published: March 2023

Background

Ductal lesions are an important, often overlooked, and poorly understood issue in breast imaging, which have a risk of underlying malignancy ranging from 5 to 23%. Ultrasonography (US), which has largely replaced galactography or ductography, has become an important imaging method to assess patients with ductal lesions. However, it is difficult to distinguish benign from malignant ductal abnormalities only by ultrasonography, most of which are recommended to be at least in subcategory 4A; these require biopsy according to the ACR BI-RADS®atlas 5th Edition-breast ultrasound. Contrast-enhanced ultrasound (CEUS) has been shown to be valuable for differentiating benign from malignant tumors, but its value is unclear in breast ductal lesions. Therefore, the purposes of this study were to explore the characteristics of malignant ductal abnormalities on US and CEUS imaging and the diagnostic value of CEUS in breast ductal abnormalities.

Methods

Overall, 82 patients with 82 suspicious ductal lesions were recruited for this prospective study. They were divided into benign and malignant groups according to the pathological results. Morphologic features and quantitative parameters of US and CEUS were analyzed by comparison and multivariate logistic regression to determine the independent risk factors. The diagnostic performance was assessed by receiver operating characteristic (ROC) curve analysis.

Results

Shape, margin, inner echo, size, microcalcification and blood flow classification on US, wash-in time, enhancement intensity, enhancement mode, enhancement scope, blood perfusion defects, peripheral high enhancement and boundary on CEUS were identified as features correlated with malignant ductal lesions. However, multivariate logistic regression showed that only microcalcification (OR = 8.96, P = 0.047) and enhancement scope (enlarged, OR = 27.42, P = 0.018) were independent risk factors for predicting malignant ductal lesions. The sensitivity, specificity, positive predictive value, negative predictive value, accuracy and area under the ROC curve of microcalcifications combined with an enlarged enhancement scope were 0.895, 0.886, 0.872, 0.907, 0.890, and 0.92, respectively.

Conclusions

Microcalcification and enlarged enhancement scope are independent factors for predicting malignant ductal lesions. The combined diagnosis can greatly improve the diagnostic performance, indicating that CEUS can be useful in the differentiation of benign and malignant lesions to formulate more appropriate management for ductal lesions.
Long-axial field-of-view PET/CT: perspectives and review of a revolutionary development in nuclear medicine based on clinical experience in over 7000 patients
Authors: Alberts Ian , Sari Hasan , Mingels Clemens , Afshar-Oromieh Ali , Pyka Thomas , Shi Kuangyu , Rominger Axel
Published: March 2023

Recently introduced long-axial field-of-view (LAFOV) PET/CT systems represent one of the most significant advancements in nuclear medicine since the advent of multi-modality PET/CT imaging. The higher sensitivity exhibited by such systems allow for reductions in applied activity and short duration scans. However, we consider this to be just one small part of the story: Instead, the ability to image the body in its entirety in a single FOV affords insights which standard FOV systems cannot provide. For example, we now have the ability to capture a wider dynamic range of a tracer by imaging it over multiple half-lives without detrimental image noise, to leverage lower radiopharmaceutical doses by using dual-tracer techniques and with improved quantification. The potential for quantitative dynamic whole-body imaging using abbreviated protocols potentially makes these techniques viable for routine clinical use, transforming PET-reporting from a subjective analysis of semi-quantitative maps of radiopharmaceutical uptake at a single time-point to an accurate and quantitative, non-invasive tool to determine human function and physiology and to explore organ interactions and to perform whole-body systems analysis. This article will share the insights obtained from 2 years’ of clinical operation of the first Biograph Vision Quadra (Siemens Healthineers) LAFOV system. It will also survey the current state-of-the-art in PET technology. Several technologies are poised to furnish systems with even greater sensitivity and resolution than current systems, potentially with orders of magnitude higher sensitivity. Current barriers which remain to be surmounted, such as data pipelines, patient throughput and the hindrances to implementing kinetic analysis for routine patient care will also be discussed.
Prognostic significance of cervical radiologic carotid artery invasion by lymph node on magnetic resonance imaging in nasopharyngeal carcinoma
Authors: Qiu Wenze , Zhong Xi , Jiang Jiali , Huang Laiji , Li Jiansheng , Zheng Ronghui , Cai Zhuochen , Yuan Yawei
Published: March 2023

Purpose

Carotid artery invasion (CAI) has been demonstrated to be an important prognosticator in some head and neck cancers. This study aimed to examine the prognostic value of radiologic CAI (rCAI) by cervical lymphadenopathy in nasopharyngeal carcinoma (NPC).

Methods

NPC patients treated between January 2013 and December 2016 were included. Pre-treatment MRIs were reviewed for cervical rCAI according to the radiologic criteria. Univariate and multivariate models were constructed to assess the association between cervical rCAI and clinical outcomes. A new N classification system was proposed and compared to the 8th AJCC system.

Results

The percentage of patients with MRI-positive lymph nodes was 84.7% (494/583), of whom cervical rCAI cases accounted for 42.3% (209/494). Cervical rCAI was associated with significantly poorer OS, DFS, DFFS and RFFS compared to non-rCAI (P < 0.05). Multivariate analyses confirmed that cervical rCAI was an independent prognosticator for DFS and DFFS, surpassing other nodal features, such as laterality, size, cervical node necrosis (CNN) and radiologic extranodal extension (rENE), while location of positive LNs remained independently associated with OS, DFS and DFFS. We propose a refined N classification: New_N1: upper neck LNs only without cervical rCAI; New_N2: upper neck LNs only with cervical rCAI; New_N3: upper and lower LNs. The proposed classification broadened the differences in OS, DFS and DFFS between N1 and N2 disease, and achieved a higher c-index for DFS and DFFS.

Conclusions

Cervical rCAI was an independent unfavorable indicator of NPC. Compared to the AJCC system, the proposed N category showed satisfactory stratification between N1 and N2 disease, and better prediction of distant metastasis and disease failure.
DYRK1-mediated phosphorylation of endocytic components is required for extracellular lumen expansion in ascidian notochord
Authors: Ouyang Xiuke , Wu Bingtong , Yu Haiyan , Dong Bo
Published: March 2023

Background

The biological tube is a basal biology structure distributed in all multicellular animals, from worms to humans, and has diverse biological functions. Formation of tubular system is crucial for embryogenesis and adult metabolism. Ascidian Ciona notochord lumen is an excellent in vivo model for tubulogenesis. Exocytosis has been known to be essential for tubular lumen formation and expansion. The roles of endocytosis in tubular lumen expansion remain largely unclear.

Results

In this study, we first identified a dual specificity tyrosine-phosphorylation-regulated kinase 1 (DYRK1), the protein kinase, which was upregulated and required for ascidian notochord extracellular lumen expansion. We demonstrated that DYRK1 interacted with and phosphorylated one of the endocytic components endophilin at Ser263 that was essential for notochord lumen expansion. Moreover, through phosphoproteomic sequencing, we revealed that in addition to endophilin, the phosphorylation of other endocytic components was also regulated by DYRK1. The loss of function of DYRK1 disturbed endocytosis. Then, we demonstrated that clathrin-mediated endocytosis existed and was required for notochord lumen expansion. In the meantime, the results showed that the secretion of notochord cells is vigorous in the apical membrane.

Conclusions

We found the co-existence of endocytosis and exocytosis activities in apical membrane during lumen formation and expansion in Ciona notochord. A novel signaling pathway is revealed that DYRK1 regulates the endocytosis by phosphorylation that is required for lumen expansion. Our finding thus indicates a dynamic balance between endocytosis and exocytosis is crucial to maintain apical membrane homeostasis that is essential for lumen growth and expansion in tubular organogenesis.
Importance of grouting for tunneling in karstic and complex environment (a case study from Türkiye)
Authors: Tacim Gokhan , Posluk Evren , Gokceoglu Candan
Published: March 2023

In the planning of the tunnel support system, besides the detailed investigation of the geological-geotechnical conditions, it is also important to investigate the structure-tunnel interaction. Especially the structures located in the close vicinity of the tunnels built in unpredictable geological conditions should be considered as a part of the tunnel support system design and the planning should be performed. However, the strong heterogeneity and anisotropy characteristics of karstic environments affect the planning. In this study, a single-track railway tunnel excavated in a relatively thin-bedded, karstic limestone in the Gebze Köseköy Railway project is investigated in terms of structure-tunnel interaction and the importance of grouting. The fact that the tunnel, located in the center of the two piers of the Osmangazi Suspension Bridge approach viaducts, built on the Gulf of Izmit, passes through a shallow overburden, is also an important difficulty in the design of the tunnel. Some karstic caves are determined in the limestones besides its heavily fractured nature. It is concluded that there is a possibility of damage to the bridge as a result of different settlements under the viaduct piers during the tunnel construction with the support to be performed only through the tunnel, and the karstic caves should be filled in order to prevent possible damages. The karstic limestones along the tunnel route are strengthened from the surface by injection of a mixture of water, cement, bentonite, and sand. The interaction of the tunnel with the viaduct after injection is investigated with 2D and 3D numerical analysis and tunnel excavation and support works are started. With the tunnel construction, measurements taken from inside the tunnel and from the viaduct piers, values very close to the predicted deformation limits were obtained by 3D numerical analysis, and the tunnel construction is successfully completed. Despite the extremely difficult conditions, the main reason why no problems are encountered during the tunnel construction is considered to be the grouting.
Congenital pleuropulmonary blastoma in a newborn with a variant of uncertain significance in DICER1 evaluated by RNA-sequencing
Authors: Lyle Allison N. J. , Ohlsen Timothy J. D. , Miller Danny E. , Brown Gabrielle , Waligorski Natalie , Stark Rebecca , Taylor Mallory R. , Puia-Dumitrescu Mihai
Published: March 2023

Background

Pleuropulmonary blastoma (PPB) is a rare mesenchymal malignancy of the lung and is the most common pulmonary malignancy in infants and children. Cystic PPB, the earliest form of PPB occurring from birth to approximately two years of age, is often mistaken for a congenital pulmonary airway malformation, as the two entities can be difficult to distinguish on imaging and pathology. Diagnosis of PPB should prompt workup for DICER1 syndrome, an autosomal dominant tumor predisposition syndrome. We report a newborn with a congenital PPB presenting with tachypnea and hypoxia, who was found to have variant of uncertain clinical significance (VUS) in DICER1.

Case presentation

A term female infant developed respiratory distress shortly after birth. Initial imaging was concerning for a congenital pulmonary airway malformation versus congenital diaphragmatic hernia, and she was transferred to a quaternary neonatal intensive care unit for management and workup. Chest CT angiography demonstrated a macrocytic multicystic lesion within the right lower lobe without systemic arterial supply. The pediatric surgery team was consulted, and the neonate underwent right lower lobectomy. Pathology revealed a type I PPB. Oncology and genetics consultants recommended observation without chemotherapy and single gene sequencing of DICER1, which identified a germline VUS in DICER1 predicted to alter splicing. RNA-sequencing from blood demonstrated that the variant resulted in an in-frame deletion of 29 amino acids in a majority of transcripts from the affected allele. Due to the patient’s young age at presentation and high clinical suspicion for DICER1 syndrome, tumor surveillance was initiated. Renal and pelvic ultrasonography were unremarkable.

Conclusion

We present the case of a term neonate with respiratory distress and cystic lung mass, found to have a type I PPB with a germline VUS in DICER1 that likely increased her risk of DICER1-related tumors. Nearly 70% of patients with PPB demonstrate germline mutations in DICER1. Review of RNA sequencing data demonstrates the difficulty in classifying splice variants such as this. Penetrance is low, and many patients with pathogenic DICER1 variants do not develop a malignancy. Best practice surgical and oncologic recommendations include an individualized approach and tumor board discussion. This case highlights the importance of a multidisciplinary team approach and the utility of international registries for patients with rare diagnoses.
Hand-assisted laparoscopic surgery for an esophageal hiatal hernia with incarcerated transverse colon presenting after laparoscopic gastrectomy: a case report
Authors: Itamoto Shingo , Fujikuni Nobuaki , Tanabe Kazuaki , Yanagawa Senichiro , Nakahara Masahiro , Noriyuki Toshio
Published: March 2023

Background

Esophageal hiatal hernia (EHH) presenting after gastrectomy for carcinoma is a type of internal hernia and very rare. There have been no published reports on the use of hand-assisted laparoscopic surgery (HALS) for the treatment of an incarcerated EHH that presented after a gastrectomy. Herein, we report a rare case of HALS performed for an incarcerated EHH presenting after a laparoscopic gastrectomy.

Case presentation

This case report presents the case of a 66-year-old man who underwent hernia repair for an incarcerated hernia that presented after he underwent a laparoscopic proximal gastrectomy with double-tract reconstruction for cancer in the esophagogastric junction. Emergency laparoscopic hernia repair was performed and herniation of the transverse colon into the left thoracic cavity through a hiatal defect was confirmed. Since it was difficult to return the transverse colon into the abdominal cavity using forceps, the procedure was converted to HALS and the transverse colon was pulled back into the abdominal cavity. The hernia defect was closed using a non-absorbable suture. The postoperative course was uneventful, and the patient was discharged on the fourth postoperative day.

Conclusions

The HALS approach provides the tactile experience of an open surgery combined with the benefits of a laparoscopic procedure such as good visualization and low invasiveness. In this case, when the transverse colon that had herniated into the left hemithorax was returned to the abdominal cavity, damage to the transverse colon was avoided by using the hand. Hence, HALS was safely performed to repair an incarcerated EHH after gastrectomy.
Effects of Mineral on Taxonomic and Functional Structures of Microbial Community in Tengchong Hot Springs via in-situ cultivation
Authors: Li Fangru , Hou Weiguo , Wang Shang , Zhang Yidi , He Qing , Zhang Wenhui , Dong Hailiang
Published: March 2023

Diverse mineralogical compositions occur in hot spring sediments, but the impact of minerals on the diversity and structure of microbial communities remains poorly elucidated. In this study, different mineral particles with various chemistries (i.e., hematite, biotite, K-feldspar, quartz, muscovite, aragonite, serpentine, olivine, barite, apatite, and pyrite) were incubated for ten days in two Tengchong hot springs, one alkaline (pH ~ 8.34) with a high temperature (~ 82.8 °C) (Gumingquan, short as GMQ) and one acidic (pH ~ 3.63) with a relatively low temperature (~ 43.3 °C) (Wenguangting, short as WGT), to determine the impacts of minerals on the microbial communities taxonomic and functional diversities. Results showed that the mineral-associated bacterial taxa differed from those of the bulk sediment samples in the two hot springs. The relative abundance of Proteobacteria, Euryarchaeota, and Acidobacteria increased in all minerals, indicating that these microorganisms are apt to colonize on solid surfaces. The α-diversity indices of the microbial communities on the mineral surfaces in the WGT were higher than those from the bulk sediment samples (p < 0.05), which may be caused by the stochastically adhering process on the mineral surface during 10-day incubation, different from the microbial community in sediment which has experienced long-term environmental and ecological screening. Chemoheterotrophy increased with minerals incubation, which was high in most cultured minerals (the relative contents were 5.8 − 21.4%). Most notably, the sulfate respiration bacteria (mainly related to Desulfobulbaceae and Syntrophaceae) associated with aragonite in the acidic hot spring significantly differed from other minerals, possibly due to the pH buffering effect of aragonite providing more favorable conditions for their survival and proliferation. By comparison, aragonite cultured in the alkaline hot spring highly enriched denitrifying bacteria and may have promoted the nitrogen cycle within the system. Collectively, we speculated that diverse microbes stochastically adhered on the surface of minerals in the water flows, and the physicochemical properties of minerals drove the enrichment of certain microbial communities and functional groups during the short-term incubation. Taken together, these findings thereby provide novel insights into mechanisms of community assembly and element cycling in the terrestrial hydrothermal system associated with hot springs.
Identifying positive and negative deviants and factors associated with healthy dietary practices among young schoolchildren in Nepal: a mixed methods study
Authors: Shahi Prasant Vikram , Shrestha Rachana Manandhar , Schreinemachers Pepijn , Shibanuma Akira , Kiriya Junko , Ong Ken Ing Cherng , Jimba Masamine
Published: March 2023

Background

School-based interventions have been implemented in resource-limited settings to promote healthy dietary habits, but their sustainability remains a challenge. This study identified positive deviants (PDs) and negative deviants (NDs) from the control and treatment groups in a nutrition-sensitive agricultural intervention in Nepal to identify factors associated with healthy dietary practices.

Methods

This is an explanatory mixed methods study. Quantitative data come from the endline survey of a cluster randomized controlled trial of a school and home garden intervention in Nepal. Data were analyzed from 332 and 317 schoolchildren (grades 4 and 5) in the control and treatment group, respectively. From the control group, PDs were identified as schoolchildren with a minimum dietary diversity score (DDS) ≥ 4 and coming from low wealth index households. From the treatment group, NDs were identified as schoolchildren with a DDS < 4 and coming from high wealth index households. Logistic regression analyses were conducted to identify factors associated with PDs and NDs. Qualitative data were collected through in-depth phone interviews with nine pairs of parents and schoolchildren in each PD and ND group. Qualitative data were analyzed thematically and integrated with quantitative data in the analysis.

Results

Twenty-three schoolchildren were identified as PDs, and 73 schoolchildren as NDs. Schoolchildren eating more frequently a day (AOR = 2.25; 95% CI:1.07–5.68) and whose parents had a higher agricultural knowledge level (AOR = 1.62; 95% CI:1.11–2.34) were more likely to be PDs. On the other hand, schoolchildren who consumed diverse types of vegetables (AOR = 0.56; 95% CI: 0.38–0.81), whose parents had higher vegetable preference (AOR = 0.72; 95% CI: 0.53–0.97) and bought food more often (AOR = 0.71; 95% CI: 0.56–0.88) were less likely to be NDs. Yet, schoolchildren from households with a grandmother (AOR = 1.98; 95% CI: 1.03–3.81) were more likely to be NDs. Integrated results identified four themes that influenced schoolchildren’s DDS: the availability of diverse food, the involvement of children in meal preparation, parental procedural knowledge, and the grandmother’s presence.

Conclusion

Healthy dietary habit can be promoted among schoolchildren in Nepal by encouraging parents to involve their children in meal preparation and increasing the awareness of family members.
The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing
Authors: Sebastin Monisha , Odgis Jacqueline A. , Suckiel Sabrina A. , Bonini Katherine E. , Di Biase Miranda , Brown Kaitlyn , Marathe Priya , Kelly Nicole R. , Ramos Michelle A. , Rodriguez Jessica E. , Aguiñiga Karla López , Lopez Jessenia , Maria Estefany , Rodriguez Michelle A. , Yelton Nicole M. , Cunningham-Rundles Charlotte , Gallagher Katie , McDonald Thomas V. , McGoldrick Patricia E. , Robinson Mimsie , Rubinstein Arye , Shulman Lisa H. , Wolf Steven M. , Yozawitz Elissa , Zinberg Randi E. , Abul-Husn Noura S. , Bauman Laurie J. , Diaz George A. , Ferket Bart S. , Greally John M. , Jobanputra Vaidehi , Gelb Bruce D. , Horowitz Carol R. , Kenny Eimear E. , Wasserstein Melissa P.
Published: March 2023

Background

The COVID-19 pandemic forced healthcare institutions and many clinical research programs to adopt telehealth modalities in order to mitigate viral spread. With the expanded use of telehealth, there is the potential to increase access to genomic medicine to medically underserved populations, yet little is known about how best to communicate genomic results via telehealth while also ensuring equitable access. NYCKidSeq, a multi-institutional clinical genomics research program in New York City, launched the TeleKidSeq pilot study to assess alternative forms of genomic communication and telehealth service delivery models with families from medically underserved populations.

Methods

We aim to enroll 496 participants between 0 and 21 years old to receive clinical genome sequencing. These individuals have a neurologic, cardiovascular, and/or immunologic disease. Participants will be English- or Spanish-speaking and predominantly from underrepresented groups who receive care in the New York metropolitan area. Prior to enrollment, participants will be randomized to either genetic counseling via videoconferencing with screen-sharing or genetic counseling via videoconferencing without screen-sharing. Using surveys administered at baseline, results disclosure, and 6-months post-results disclosure, we will evaluate the impact of the use of screen-sharing on participant understanding, satisfaction, and uptake of medical recommendations, as well as the psychological and socioeconomic implications of obtaining genome sequencing. Clinical utility, cost, and diagnostic yield of genome sequencing will also be assessed.

Discussion

The TeleKidSeq pilot study will contribute to innovations in communicating genomic test results to diverse populations through telehealth technology. In conjunction with NYCKidSeq, this work will inform best practices for the implementation of genomic medicine in diverse, English- and Spanish-speaking populations.
‘Get Healthy!’ physical activity and healthy eating intervention for adults with intellectual disability: results from the feasibility pilot
Authors: Salomon Carmela , Bellamy Jessica , Evans Elizabeth , Reid Renae , Hsu Michelle , Teasdale Scott , Trollor Julian
Published: March 2023

Background

People with intellectual disabilities (ID) experience high rates of lifestyle related morbidities, in part due to lack of access to tailored health promotion programmes. This study aimed to assess the feasibility and preliminary efficacy of a tailored healthy lifestyle intervention,Get Healthy!

Methods

Get Healthy!is a 12-week physical activity and healthy eating programme designed to address lifestyle-related risks for adults with mild-moderate ID. The feasibility pilot was designed to assess subjective participant experience and programme feasibility across: recruitment and screening, retention, session attendance and engagement, adverse events, and practicality and reliability of outcome procedures. Exploratory programme efficacy was assessed across the following measures: anthropometry (body mass index, weight, waist circumference), cardiovascular fitness, physical strength, dietary intake, healthy literacy, and quality of life.

Results

Six participants with moderate ID and two carer participants completed the feasibility trial, representing a 100% retention rate. Qualitative data indicated the programme was well received. Participants with ID attended 75% of sessions offered and displayed a high level of engagement in sessions attended (91% mean engagement score). While most data collection procedures were feasible to implement, several measures were either not feasible for our participants, or required a higher level of support to implement than was provided in the existing trial protocol. Participants with ID displayed decreases in mean waist circumference between baseline and endpoint (95% CI: − 3.20, − 0.17 cm) and some improvements in measures of cardiovascular fitness and physical strength. No changes in weight, body mass index, or objectively measured knowledge of nutrition and exercise or quality of life were detected from baseline to programme endpoint. Dietary intake results were mixed.

Discussion

TheGet Healthy!programme was feasible to implement and well received by participants with moderate ID and their carers. Exploratory efficacy data indicates the programme has potential to positively impact important cardiometabolic risk factors such as waist circumference, cardiovascular fitness, and physical strength. Several of the proposed data collection instruments will require modification or replacement prior to use in a sufficiently powered efficacy trial.

Trial registration

ACTRN: ACTRN12618000349246. Registered March 8th 2018—retrospectively registered,https://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=374497UTN: U1111-1209–3132.
Snacktivity™ to promote physical activity and reduce future risk of disease in the population: protocol for a feasibility randomised controlled trial and nested qualitative study
Authors: Daley Amanda J. , Griffin Ryan A. , Moakes Catherine A. , Sanders James P. , Skrybant Magdalena , Ives Natalie , Maylor Ben , Greenfield Sheila M. , Gokal Kajal , Parretti Helen M. , Biddle Stuart J. H. , Greaves Colin , Maddison Ralph , Mutrie Nanette , Esliger Dale W. , Sherar Lauren , Edwardson Charlotte L. , Yates Tom , Frew Emma , Tearne Sarah , Jolly Kate
Published: March 2023

Background

Many people do not regularly participate in physical activity, which may negatively impact their health. Current physical activity guidelines are focused on promoting weekly accumulation of at least 150 min of moderate to vigorous intensity physical activity (MVPA). Whilst revised guidance now recognises the importance of making small changes to physical activity behaviour, guidance still focuses on adults needing to achieve at least 150 min of MVPA per week. An alternative ‘whole day’ approach that could motivate the public to be more physically active, is a concept called Snacktivity™. Instead of focusing on achieving 150 min per week of physical activity, for example 30 min of MVPA over 5 days, Snacktivity™ encourages the public to achieve this through small, but frequent, 2–5 min ‘snacks’ of MVPA throughout the whole day.

Methods

The primary aim is to undertake a feasibility trial with nested qualitative interviews to assess the feasibility and acceptability of the Snacktivity™ intervention to inform the design of a subsequent phase III randomised trial. A two-arm randomised controlled feasibility trial aiming to recruit 80 inactive adults will be conducted. Recruitment will be from health and community settings and social media. Participants will be individually randomised (1:1 ratio) to receive either the Snacktivity™ intervention or usual care. The intervention will last 12 weeks with assessment of outcomes completed before and after the intervention in all participants. We are interested in whether the Snacktivity™ trial is appealing to participants (assessed by the recruitment rate) and if the Snacktivity™ intervention and trial methods are acceptable to participants (assessed by Snacktivity™/physical activity adherence and retention rates). The intervention will be delivered by health care providers within health care consultations or by researchers. Participants’ experiences of the trial and intervention, and health care providers’ views of delivering the intervention within health consultations will be explored.

Discussion

The development of physical activity interventions that can be delivered at scale are needed. The findings from this study will inform the viability and design of a phase III trial to assess the effectiveness and cost-effectiveness of Snacktivity™ to increase physical activity.

Trial registration

ISRCTN: 64851242.
Surface modifications of titanium dental implants with strontium eucommia ulmoides to enhance osseointegration and suppress inflammation
Authors: Sun Avery Rui , Sun Qili , Wang Yansong , Hu Liqiu , Wu Yutong , Ma Fenbo , Liu Jiayi , Pang Xiangchao , Tang Bin
Published: March 2023

Background

Titanium (Ti) is now widely used as implant material due to its excellent mechanical properties and superior biocompatibilities, while its inert bioactivities might lead to insufficient osseointegration, and limit its performance in dental applications.

Methods

We introduced a robust and simple approach of modifying titanium surfaces with polysaccharide complexes. Titanium samples were subjected to hydrothermal treatment to create a uniform porous structure on the surface, followed by coating with a bioinspired and self-assembly polydopamine layer. Strontium
Eucommia Ulmoides
Polysaccharide (EUP-Sr) complexes are then introduced to the polydopamine-coated porous titanium. Multiple morphological and physiochemical characterizations are employed for material evaluation, while cell proliferation and gene expression tests using macrophages, primary alveolar bone osteoblasts, and vascular endothelial cells are used to provide an overall insight into the functions of the product. The significances of statistical differences were analyzed using student’s t-test.

Results

Microscopic and spectrometric characterizations confirmed that the Ti surface formed a porous structure with an adequate amount of EUP-Sr loading. The attachment was attributed to hydrogen bonding between the ubiquitous glycosidic linkage of the polysaccharide complex and the ring structure of polydopamine, yet the loaded EUP-Sr complex can be gradually released, consequently benefiting the neighboring microenvironment. Cell experiments showed no cytotoxicity of the material, and the product showed promising anti-inflammation, osseointegration, and angiogenesis properties, which were further confirmed by
in vivo
evaluations.

Conclusion

We believe the EUP-Sr modified titanium implant is a promising candidate to be used in dental applications with notable osteoimmunomodulation and angiogenesis functions. And the novel technique proposed in this study would benefit the modification of metal/inorganic surfaces with polysaccharides for future research.