bluuebunny/crossref_metadata_2025_split huggingface dataset:
Evaluation of Subtalar Joint’s Compensatory Function in Varus Ankle Osteoarthritis Using Globally Optimal Iterative Closest Points (Go-ICP)
Authors: Kurokawa Hiroaki , Kosugi Shinichi , Fujinuma Takuya , Oishi Yuya , Miyamoto Takuma , Taniguchi Akira , Takemura Hiroshi , Tanaka Yasuhito 
Published: June 2022

Background: A previous study on 2-dimensional evaluation of the subtalar joint functioning in varus ankle osteoarthritis concluded that varus deformity was compensated for by the subtalar joint during early stages but not in the advanced stages. Although compensatory function is expected both along the axial and coronal planes, compensatory function in all 3 dimensions (3D) remains unevaluated. This study evaluated the 3D-compensatory function of a varus subtalar joint using Globally Optimal Iterative Closest Points (Go-ICP), a 3D-shape registration algorithm, after 3D-bone shape reconstruction using computed tomography. Methods: This study included 22 ankles: 4 stage 2 ankles, 5 stage 3a ankles, 6 stage 3b ankles, and 4 stage 4 ankles, categorized according to the Takakura-Tanaka classification. As the control group, 3 ankles without prior ankle injuries and disorders and 4 stage 2 ankles were included. One control ankle was used as a reference. Relative values compared with the reference ankle were evaluated in each group using Go-ICP. Each axis was set so that dorsiflexion, valgus, and abduction were positive on the X axis, Y axis, and Z axis, respectively. Results: Rotation angles of the talus (Rotation T) and calcaneus (Rotation C) on the Y axis in the control and stage 3b were −7.6, −28, −2.1, and −13 degrees, respectively, indicating significant differences. Value of Rotation T-Rotation C (Rotation T-C) represents compensatory function of the subtalar joint. In all ankles, there was a correlation between Rotation T and Rotation T-C on the Y axis and Z axis ( P < .01, r = 0.84; P < .01, r = −0.84, respectively). There was a correlation between Rotation T values on the on Y and Z axes ( P = .01, r = 0.53). Conclusion: In varus ankle osteoarthritis, the talus had varus deformity with adduction. Compensatory function in the coronal plane persisted, even in the advanced stages; however, it was not sufficiently maintained in stage 3b. Furthermore, compensatory function in the axial plane was relatively sustained. Level of Evidence: Level III, retrospective comparative study.
A Rare Report of Heavy-Metal-Associated Hemodialysis-Dependent Chronic Kidney Disease Secondary to Ayurvedic Medication
Authors: Mahapatra Himansu Sekhar , Bhattacharyya Sutanay , Batra Vineeta V. 
Published: June 2022

Introduction Heavy metals are a component of many traditional medications. However, they continue to be used for trivial causes. Chronic heavy metal exposure is an important but under-recognized cause of renal damage. We report to our knowledge the first case of a heavy-metal-associated chronic kidney disease secondary to Ayurvedic medication. Case Report A 24-year-old with history of chronic Ayurvedic medication for altered bowel habits presented with neuromuscular symptoms and bilateral lower limb swelling and was found to have hypocalcemia and renal dysfunction. He was initiated on dialysis and underwent an uncomplicated renal biopsy which was suggestive of chronic glomerulosclerosis. In view of significant exposure to Ayurvedic medication, he underwent heavy metal screening in blood, urine, and renal biopsy tissue along with the Ayurvedic medication he had. His blood tested positive for cadmium, copper, and mercury along with same positive results in Ayurvedic medication. He underwent chelation with dimercaprol 250 mg iv for 7 days with blood samples testing negative repeatedly for the same heavy metal that tested positive earlier. However, in view of significant chronicity, he became dialysis dependent and was initiated on twice weekly hemodialysis. His persistent gastrointestinal symptoms were attributed to nonspecific colitis following a computed tomography of the abdomen and colonoscopy with biopsy. He responded to rifaximin and probiotics. Conclusion Heavy metal exposure, secondary to chronic Ayurvedic medication intake, is an unrecognized cause of renal dysfunction. The use of such medications for trivial purposes is rampant, especially in developing countries like India. Delaying diagnosis can lead to permanent renal damage with patients eventually becoming dialysis dependent.
Differential regulation of CTLA4 expression through BTK-dependent and independent mechanisms in CLL
Authors: Yano Max , Nunes Jessica , Mo Xiaokui , Rogers Kerry A. , Woyach Jennifer A. , Byrd John C. , Muthusamy Natarajan 
Published: June 2022

AbstractCytotoxic T lymphocyte antigen 4 (CTLA4) is a major immune checkpoint and target for cancer immunotherapy. Although originally discovered and primarily studied on T cells, its role on other cell types has also been recognized in recent years. Here we describe an unexpected interaction between ibrutinib (a targeted inhibitor of Bruton tyrosine kinase [BTK]) and CTLA4 expression on malignant chronic lymphocytic leukemia (CLL) cells. Although BTK itself does play a role in CTLA4 expression in CLL, we demonstrate that ibrutinib’s main suppressive effect on CTLA4 protein expression and trafficking occurs through non-BTK targets influenced by this drug. This suppression is not seen in T cells, indicating a different mechanism of CTLA4 regulation in CLL vs T cells. Appreciating this distinct mechanism and the beneficial non-BTK effects of ibrutinib may contribute to understanding the immune benefits of ibrutinib treatment and lead to therapeutic approaches to improve immune function in patients with CLL by suppressing CTLA4 expression.
COVID-19 and venous thromboembolism risk in patients with sickle cell disease
Authors: Singh Ashima , Brandow Amanda M. , Wun Ted , Shet Arun S. 
Published: June 2022

Abstract
Venous thromboembolism (VTE) is a life-threatening complication observed among patients with sickle cell disease (SCD) and also among those with severe COVID-19 infection. Although prior studies show that patients with SCD are at risk of severe COVID-19 illness, it remains unclear if COVID-19 infection further increases VTE risk for this population. We hypothesized that patients with SCD hospitalized for COVID-19 would have higher VTE rates than those hospitalized for other causes. Using electronic health record data from a multisite research network, TriNetX, we identified 2 groups of patients with SCD hospitalized during 2020: (1) with COVID-19 and (2) without COVID-19. We compared VTE rates using risk ratios estimated based on adjusted Poisson regression model with log link and robust error variances. Of the 281 SCD patients hospitalized with COVID-19 and 4873 SCD patients hospitalized without COVID-19 , 35 (12.46%) and 418 (8.58%) had incident VTE within 6 months of the index hospitalization respectively. After adjusting for differences in baseline characteristics, no significant differences in VTE rates within 6 months were found between the 2 groups (adjusted relative risk, 1.06 [95% confidence interval, 0.79-1.41]). These data suggest that hospitalization with COVID-19 does not further increase VTE risk in patients with SCD.
ForAlexa, an online tool for the rapid development of artificial intelligence skills for the teaching of evolutionary biology using Amazon’s Alexa
Authors: Rabelo Luan Pinto , Sodré Davidson , dos Santos Marcelo Soares , Lima Caio César Silva , Ferrari Stephen F. , Sampaio Iracilda , Vallinoto Marcelo 
Published: June 2022

AbstractIntelligent Personal Assistants (IPAs), such as Amazon’s Alexa, are now widely used for an ample variety of tasks, ranging from personal management to education. These tools have shown considerable promise for student-educator interactions, especially at a distance, a potential that has come to the forefront during the ongoing COVID-19 pandemic. Even so, this potential is still underexploited, even in the current scenario. Alexa’s apps are known as skills, which include all the different commands that Alexa is capable of executing. It is important to note, however, that the use of such technology is work-intensive and can be relatively complex. Given this, to facilitate the development of new skills in Alexa, we have developed an online tool that permits the creation of questions and answers, as well as honing the interaction between Alexa and the user. We have named this tool ForAlexa, which has two types of forms, Question-And-Answer (Q&A) and Random-Quote. Both these forms allow the user to build intents (an activity that is invoked by a spoken request from the user), but with slightly different functions. The Q&A form is used to compile answers that Alexa will offer in response to an utterance (question), while the Random-Quote extends the interaction between Alexa and the user, based on the questions asked in the first form. ForAlexa also has a help assistant, as well as a manual, which explains all the steps necessary for the design of an intent. This tool allows educators to develop apps quickly and easily for their classes and this type of app could be an alternative to be used for students with special needs, such as the visually-impaired.
Peripheral arterial disease progression and ankle brachial index: a cohort study with newly diagnosed patients with type 2 diabetes
Authors: Felício João Soares , de Melo Franciane Trindade Cunha , Vieira Giovana Miranda , de Aquino Vitória Teixeira , de Souza Parente Fernanda , da Silva Wanderson Maia , Said Nivin Mazen , da Silva Emanuele Rocha , de Souza Ana Carolina Contente Braga , de Oliveira Maria Clara Neres Iunes , de Lemos Gabriela Nascimento , de Souza Ícaro José Araújo , de Alcântara Angélica Leite , de Moraes Lorena Vilhena , Abrahão Neto João Felício , de Queiroz Natércia Neves Marques , Mourão Neyla Arroyo Lara , Piani Pedro Paulo Freire , Oliveira dos Reis Melissa de Sá , Felício Karem Mileo 
Published: June 2022

Abstract
Background
Little is known about the evolution of peripheral arterial disease (PAD) since diagnosis and its association with glycemic and lipid control in patients with Type 2 Diabetes Mellitus (T2DM).

Objective
Evaluate the actual criteria to start screening PAD with ankle-brachial index (ABI) in T2DM patients and assess its progression and relationship with glycemic and lipid control since diagnosis.

Methods
We performed a 3-year prospective cohort study with two groups: group 1 (978 individuals with T2DM undergoing drug treatment) and group 2 [221 newly diagnosed drug-naive (< 3 months) patients with T2DM]. PAD diagnosis was by ABI ≤ 0.90, regardless any symptoms.

Results
As expected, abnormal ABI prevalence was higher in group 1 vs. Group 2 (87% vs. 60%, p < 0.001). However, abnormal ABI prevalence did not differ between patients over and under 50 years in both groups. Our drug-naive group stabilizes ABI (0.9 ± 0.1 vs 0.9 ± 0.1, p = NS) and improved glycemic and lipid control during follow-up [glycated hemoglobin (HbA1c) = 8.9 ± 2.1 vs 8.4 ± 2.3%, p < 0.05; LDL = 132 ± 45 vs 113 ± 38 mg/dL, p < 0.01, respectively]. When compared, patients who evolved with normalization or maintained normal ABI levels at the end [Group A, N = 60 (42%)] with those who decreased ABI to abnormal levels (ABI basal 1.0 ± 0.1 vs final 0.85 ± 0.1, p < 0.001) [Group B, N = 26 (18%)], an improvement in HbA1c (9 ± 2 vs 8 ± 2%, p < 0.05) and a correlation between the final HbA1c with ABI (r = − 0.3, p = 0.01) was found only in the first. In addition, a correlation was found between albuminuria variation and ABI solely in group A (r = − 0.3; p < 0.05).

Conclusion
Our study suggests that ABI should be measured at diagnosis in T2DM patients, indicating that current criteria to select patients to screen PAD with ABI must be simplified. An improvement in albuminuria and glycemic and lipid control could be related with ABI normalization in newly diagnosed T2DM drug-naive patients.
The healing response of LAMax LAAC™ left atrial appendage occluder in a canine model: the potential influence of the implantation technique on the healing response
Authors: Wu Xiaoxia , Ma Dongxing , Wan Tao , Meng Yuezhi , Chen Yilong , Shen Yejia , Huang Wei 
Published: June 2022

Abstract
Background
Device-associated thrombus are potential causes for thromboembolic events post left atrial appendage closure (LAAC), and correlated with the complete endothelialization of the device surface. Our aim was to evaluate the endothelialization of LAMax LAAC™ occluder surface and analyze the potential influence of the implantation technique on the healing response.

Methods
A total of 29 healthy dogs (28.0 ± 3.7 kg) were implanted with the devices successfully after ensuring COVER signs was met (Concavity of the disc, Oversizing by 20–50%, Verifying position, Ensuring stability, Residual flow < 5 mm by transesophageal echocardiographic (TEE) examination), and sacrificed at < 24 h, 1-, 2-, 3-, and 6-months. Gross examinations were conducted to evaluate healing response.

Results
The mean diameters of LAA orifice measured by angiography and TEE were 19.0 ± 2.9 mm and 16.6 ± 2.9 mm (P < 0.05), respectively. TEE found that the discs in 18 dogs (62.1%) were completely pulled into the LAA with concavity and in 11 dogs incompletely pulled into the LAA with suboptimally concavity, while 5 of them had residual flow. Gross examinations showed that the complete endothelialization on the device surface with concaved disc was found at 1-month after LAAC. Microscopic examinations confirmed complete healing on the device with optimal closure effect.

Conclusions
The good healing response and the optimal closure effect were observed using the LAMax device in a canine model by following the COVER implantation technique.
Endoscopic nasobiliary drainage-based saline-injection ultrasound: an imaging technique for remnant stone detection after retrograde cholangiopancreatography
Authors: Wu XiaoDong , Wu ShuoDong , Tang ShaoShan 
Published: June 2022

Abstract
Background
The purpose of this retrospective study aimed to assess the accuracy of detection of remnant common bile duct (CBD) stones by injecting saline through endoscopic nasobiliary drainage (ENBD) tubes under transabdominal ultrasound (US) guidance.

Method
Stone extraction and ENBD are regularly achieved through endoscopic retrograde cholangiopancreatography (ERCP) in patients with CBD stones. At 1–3 days thereafter, routine US studies were performed and repeated, using ENBD tubal saline injections (20–100 mL).

Results
A total of 302 patients underwent standard ERCP stone extractions in conjunction with occlusion cholangiograms, routine US testing, and ENBD-based saline-injection US exams. By occlusion cholangiogram, remnant stones were suspected in 31 (10.3%) patients in total of 302, and 26 (83.8%) were verified as true positives (sensitivity, 50.9%; specificity, 98.0%). Routine US studies proved suspicious in 13 (4.3%) patients in total of 302, and 12 (92.3%) were verified as true positives (sensitivity, 23.5%; specificity, 99.6%). Using ENBD-based saline-injection US, suspected stones were identified in 50 (16.6%) patients in total of 302, and 46 (92%) were verified as true positives (sensitivity, 90.1%; specificity, 98.4%). The sensitivity of ENBD-based saline-injection US significantly surpassed that of occlusion cholangiogram (p < 0.001) and routine US (p < 0.001).

Conclusion
Detection of remnant CBD stones via ENBD-based saline-injection US is a valid, inexpensive, and repeatable means of patient screening that is non-invasive, radiation-free, and dynamically informative. This may help improve the accuracy of detecting remnant CBD stones after ERCP.
Needs, benefits, and issues related to home adaptation: a user-centered case series applying a mixed-methods design
Authors: Schorderet Chloé , Ludwig Catherine , Wüest Frederic , Bastiaenen Caroline H. G. , de Bie Robert A. , Allet Lara 
Published: June 2022

Abstract
Introduction
Home adaptation can be a key contributor to successfully aging at home, allowing older adults to remain in a familiar environment while maintaining their quality of life and well-being despite progressing functional difficulties. Although several theoretical studies on home adaptations exist, the benefits of custom home adaptations remain poorly evaluated. The present study's primary aims were to explore older adults' expectations and needs regarding home adaptations and evaluate the impact of individualized home adaptations on quality of life, fear of falling, independence, and difficulties using adapted rooms. Its secondary aim was to describe the barriers and facilitators of home adaptation.

Method
The 15 homes in this case series were adapted using an inclusive, interdisciplinary approach. Adaptations' effects were assessed using a parallel mixed-methods design. Quantitative and qualitative data were collected using questionnaires and semi-structured interviews. An architect and a health professional visited each home twice to assess the older adult's expectations and needs, evaluate the home's technical aspects, and co-create an adaptation plan with that study participant. They assessed the older adult's perceived quality of life, fear of falling, independence, and difficulties using the rooms needing adaptations. Inhabitants received two more visits after the adaptations (one or two months and six months later) to assess their benefits.

Results
Most homes had their bathroom adapted. Participants reported improved safety, independence, ease of use, positive feelings, and comfort. They also reported lower perceived levels of difficulties during the activities of daily living in the adapted rooms (reductions of 93.4% [SD = 12.7] of bathrooms and 100% of kitchens), an improvement in quality of life of 9.8% (SD = 27.6), and a reduction in fear of falling of 12.5% (SD = 9.7).

Conclusion
Home adaptations are beneficial to older adults' activities of daily living and improve their quality of life; however, several factors hinder the implementation of those adaptations.
Extracorporeal membrane oxygenation rescue for severe pneumocystis pneumonia with the Macklin effect: a case report
Authors: Huang Guoqing , Zhou Liping , Yang Ning , Wu Ping , Mo Xiaoye 
Published: June 2022

Abstract
Background
Pneumocystis jirovecii pneumonia (PJP) in an immunocompromised host is often associated with the Macklin effect, which can progress to spontaneous pneumomediastinum (SPM), subcutaneous emphysema (SCE), and pneumothorax (PNX). Diagnosing the causative organism of these conditions in non-HIV infected patients and treating hypoxemia while preventing further lung damage can be challenging. This study examines the case of a non-HIV infected male with SPM, SCE, and PNX secondary to severe Pneumocystis jirovecii (PJ) infection.

Case presentation
A 53-year-old male with pure red cell aplasia (PRCA) was admitted with fever, dry cough, and shortness of breath. His respiratory function progressively deteriorated due to the development of SPM, SCE, and PNX, eventually requiring endotracheal intubation and invasive ventilation. As a result of high pressure in his airways occasioned by lung recruitment maneuvers, his pulmonary parameters worsened, necessitating veno-venous (VV) extracorporeal membrane oxygenation (ECMO) therapy. The early initiation of VV-ECMO facilitated ultra-protective lung ventilation and prevented the progression of SPM, SCE, and PNX. Traditional diagnostic assays were unrevealing, whereupon the patient resorted to the metagenomic next-generation sequencing technology for uncovering potential pathogens. Consequently, we detected a significantly higher infection by PJ in the patient’s bronchoscopy lavage fluid. Finally, the patient was successfully treated with appropriate antimicrobials and was decannulated after nine days of ECMO support.

Conclusions
SPM, SCE, and PNX are rare clinical manifestations of PJP. However, they can be considered as poor prognostic factors of the infection. Physicians should, therefore, be alert to the possibility of PJP in immunocompromised patients.
A novel mutation of KCNJ1 identified in an affected child with nephrolithiasis
Authors: Yang Saisai , Yao Guanghui , Chen Xin , Shi Huirong , Lou Chihhong , Ren Shumin , Jiao Zhihui , Wang Cong , Kong Xiangdong , Wu Qinghua 
Published: June 2022

AbstractNephrolithiasis is not common in children, but the incidence is gradually increased in these years. Urinary tract malformations, urinary infection, dietary habits, geographic region and genetic factor are involved in the etiology of nephrolithiasis. For the affected child, it is especially important to elucidate the etiology, which may provide an accurate diagnosis, a personalized therapy and effective follow-up strategy. Here to seek the etiology of a ten-year-old boy incidentally found with nephrolithiasis, next generation sequencing (NGS) including a panel with 248 genes involved in hereditary kidney diseases was performed for the boy and identified two mutations of KCNJ1, c.89G > A (p.C30Y) and c.65G > T (p.R22M), and the later was a novel missense mutation originated from his father. The child was confirmed with type II Bartter syndrome (BS) caused by KCNJ1 mutations. Our study suggests that BS may be difficult to get diagnosed at an early stage based on clinical manifestations or biochemical laboratory tests, and NGS is an efficient way to determine the etiology and provide further treatment and guide fertility counseling for the affected family.
One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype
Authors: Yu Lianhu , Li Dan , Zhang Ting , Xiao Yongmei , Wang Yizhong , Ge Ting 
Published: June 2022

Abstract
Background
Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare disease with a high mortality rate caused by VPS33B or VIPAS39 mutations. ARC syndrome typically presents with arthrogryposis, renal tubular leak and neonatal cholestatic jaundice, and most patients with this disease do not survive beyond one year.

Case presentation
Here, we report the case of a 13-year-old girl with ARC featuring an incomplete and mild phenotype with novel compound heterozygous mutations of VPS33B. The patient presented with arthrogryposis (claw-shaped limbs), ichthyosis, jaundice, and pruritus. Laboratory tests revealed highly evaluated levels of total bilirubin (TB), direct bilirubin (DB), and total bile acid (TBA) as well as normal levels of gamma-glutamyltransferase (GGT). However, signs of renal dysfunction, as well as other manifestations of ARC syndrome, including nervous system abnormalities, deafness, and failure to thrive, were not observed. The patient’s clinical symptoms of jaundice and pruritus were significantly alleviated by administration of ursodeoxycholic acid. Whole-exome sequencing (WES) revealed novel compound heterozygous mutations of VPS33B, c.1081 C > T (p.Q361X,257)/c.244 T > C (p.C82R). Both variants were predicted to be pathogenic in silico and have never been reported previously. To date, the patients’ cholestatic jaundice has been well controlled with continuous treatment of ursodeoxycholic acid.

Conclusions
We report the case of a Chinese female with ARC including novel compound heterozygous mutations of VPS33B and an incomplete and mild phenotype. Early diagnosis and suitable symptomatic therapies are critical for the management of ARC patients with mild manifestations and prolonged lifespan.