bluuebunny/crossref_metadata_2025_split huggingface dataset:
Association Between MTHFD1 1958G > A Variant and non-Syndromic Cleft lip and Palate: An Updated Meta-Analysis
Authors: Purohit Manas R. , Saikrishna Lakkakula , Verma Henu , Bhaskar L.V.K.S. , Hussain Syed A. 
Published: December 2021

Introduction Non-syndromic cleft lip and palate (NSCLP) is one of the most common and challenging congenital deformities worldwide. Previous research has linked the methylenetetrahydrofolate dehydrogenase1 (MTHFD1) gene to orofacial cleft (OFC) susceptibility via a complex metabolism. Studies analyzing the MTHFD1 1958G > A variant and NSCLP are contradictory. This study aims to evaluate the association between the MTHFD1 1958G > A variant and NSCLP by meta-analysis. Methods PubMed, Web of Science, MEDLINE, and Google Scholar databases were searched to retrieve the eligible studies. A fixed- or random-effect model was used to calculate pooled odds ratio (OR) and 95% confidence interval (CI). All analyses were calculated by Metagenyo software. To detect heterogeneity, the Cochrane Q and I2 statistics were used. The publication bias was estimated using funnel plots and Egger’s test. Results Our study suggested that the MTHFD1 1958G > A variant allele “A” does not appear to increase the risk of NSCLP (A vs G random effect model: Overall P  = .501, OR  =  1.07, CI  =  0.88–1.31; Asians P  = .245, OR  =  1.29, CI  =  0.84–1.97; Caucasians P  = .658, OR  =  0.95, CI  =  0.76–1.19). Similarly, mutant genotypes also did not exhibit increased risk for NSCLP in the overall populations as well in subgroup analysis by ethnicity (AA  +  AG vs GG: Overall P  = .684, OR  =  1.06, CI  =  0.80–1.39; Asians P  = .240, OR  =  1.47, CI  =  0.77–2.78; Caucasians P  = .923, OR  =  0.99, CI  =  0.85–1.16). Conclusions Our data suggest no association between the MTHFD1 1958G > A variant and NSCLP. Additional well-designed studies are needed to better understand the role of MTHFD1 polymorphisms in the etiopathogenesis of NSCLP.
A Prospective Study to Examine Responsiveness and Minimally Important Differences (MIDs) for the CLEFT-Q Scales Following Three Cleft-Specific Operations
Authors: Miroshnychenko A , Rae C , Wong Riff K , Forrest CR , Goodacre T , Swan MC , Slator R , Goldstein J , Thoma A , Harman K , Klassen A 
Published: December 2021

The aim of this study was to examine internal responsiveness and estimate minimally important differences (MIDs) for CLEFT-Q scales. In this prospective cohort study, participants completed the CLEFT-Q appearance and health-related quality of life (HRQL) scales before and six months after cleft-related surgery. Seven cleft centres in Canada, USA and UK participated. Patients were ages 8–29 years with CL/P. Patients underwent rhinoplasty, orthognathic or cleft lip scar revision surgery. Internal responsiveness was examined using Cohen's d effect sizes (ESs) based on the following interpretation: 0.20–0.49 small, 0.50–0.79 moderate and ≥ 0.80 large. MIDs were estimated using two distribution-based approaches. Participants had a rhinoplasty (n = 31), orthognathic (n = 21) or cleft lip scar revision (n = 18) surgery. Most participants were males (56%) and aged 8–11 years (41%). Following rhinoplasty, ESs were larger for the nose (0.92, p = 0.001) and nostrils (0.94, p < 0.001) scales than for the face scale (0.51, p = 0.003). MIDs ranged between 6.2–10.4. For orthognathic surgery, larger ES was observed for the jaws scale (1.80, p < 0.001) compared with the teeth (1.16, p < 0.001), face (1.15, p = 0.001) and lips (0.94, p < 0.001) scales. MIDs ranged between 5.9–14.4. In the cleft lip scar revision sample, the largest ES was observed for the nose scale (0.76, p = 0.03), followed by lips (0.58, p = 0.009) and cleft lip scar (0.50, p = 0.043) scales. MIDs ranged between 6.4–12.3. CLEFT-Q detected change in key outcomes for three cleft-specific surgeries, providing evidence of its responsiveness. Estimated MIDs will aid in interpreting this PROM.
Evaluation of the performance of two new generation pulse oximeters in cats at different probe positions and under the influence of vasoconstriction
Authors: Dörfelt René , Diels Julia , Hartmann Katrin 
Published: December 2021

Objectives The aim of this study was to compare the failure rate of two new generation pulse oximeters at different probe positions, and with and without vasoconstriction, in anaesthetised cats. Methods This prospective clinical study included 103 cats in which the new generation pulse oximeters, the Rad-5 (Masimo) and EDAN H100N (EDAN), were evaluated. Premedication consisted of the vasoconstrictive drug combination butorphanol (0.2 mg/kg IV) and dexmedetomidine (5 µg/kg IV), or butorphanol only (0.2 mg/kg IV). Pulse oximeter failure rate at the tongue was compared between both groups. Pulse oximeter failure rate was also analysed at the alternative probe positions of the lip, pinna, knee fold and toe in the butorphanol group. Student’s t-test, Wilcoxon matched pairs signed rank test, Mann−Whitney U-test, Friedman test and χ2 test were performed. A P value <0.05 was considered to be statistically significant. Results Overall failure to achieve an adequate signal was 37.6% with the Masimo and 48.0% with the EDAN pulse oximeter ( P <0.0001). At the standard probe position on the tongue, the Masimo failed in 4.5%, while the EDAN failed in 35.3% ( P <0.0001). Vasoactive premedication increased the failure rate for the Masimo from 3.8% to 5.2% ( P = 0.3414) and for the EDAN from 22.4% to 49.0% ( P <0.0001). At the alternative probe positions of the lip and knee fold, failure rates for the Masimo were lower (39.7% and 81.4%) than with the EDAN (52.6% and 94.4%; P = 0.0231 and P = 0.0005, respectively), while the Masimo failed more often at the pinna (63.5%) than the EDAN (47.4%; P = 0.0044). At the alternative probe position of the toe, the failure rate for the Masimo (32.7%) was not different from the EDAN (38.5%; P = 0.7547). Conclusions and relevance The Masimo pulse oximeter had lower signal failure rates at the standard probe position on the tongue and at 2/4 alternative probe positions. The standard probe position on the tongue had the lowest failure rate for both devices. Dexmedetomidine-induced vasoconstriction increased the failure rate for the EDAN but not for the Masimo pulse oximeter.
It is possible to create a vascular access team in a middle resource country? Experience of Hevi Paediatric Teaching Hospital at DUHOK – IRAQ
Authors: Federica Buzzi , Nizar Yahya Bakir , Hevan Al-Atroushy Adel , Wahida Ibraheem Abdullah , Bayar Saleem Haji , Bijeen Fareq Jalal , Sholker Khalid Mohammad , Shaima Shimo Jaafar , Nora Suleeman Suleeman , Saad Zebari Mohmood , Stefano Maiandi 
Published: December 2021

Background: Vascular access devices are critically important for the treatment of neonates and paediatric patients. Vascular cannulation is a key clinical skill for healthcare professionals working in the neonatal and paediatric wards. The creation of specialised Teams dedicated to the positioning of Vascular Venous Accesses is increasingly used and of fundamental importance for good patients care. The aim of the study is to evaluate the effectiveness of a training intervention for the staff of the Intensive Care Units for the insertion of the short/long peripheral catheter and to create a NuVa Team (Nurse-led Vascular Access Team). Methods: At the Hevi Paediatric Teaching Hospital, a course and an on-the-job training programme were carried out for two doctors and six nurses on the insertion of the in long peripheral catheters newborns and paediatric patients admitted at the hospital. The data collected were analysed from April 2017 to December 2020. A pre and post-procedure study was designed to determine whether establishing the Nurses Vascular Accesses Team (NuVa) is associated with higher success rates and a reduced risk of catheter-related complications. Results: A total of 271 Leader-cath™ catheters were placed during the study period. The mean age at catheters insertion was 2.9 years, the mean residence time was 11.7 days. Most catheters were inserted by five nurses ( n = 216 (80%)); the remainder was entered by two paediatricians ( n = 55 (20%)), p = 0.001. General reasons for removal were home discharge ( n = 103 (38%)), deceases ( n = 81 (30%)), accidental causes ( n = 43 (16%)), leg/arm oedema ( n = 21 (8%)), mechanical problems ( n = 10 (3.5%)), physician’s indication ( n = 9 (3%)) and skin infection ( n = 4 (1.5%)), p = 0.001. Conclusions: The standardisation of the procedure for inserting the catheters placement and the creation of a NuVa Team has been of fundamental importance in gaining awareness of the procedure and allows healthcare professionals to insert the catheter without complications.
Computational Identification of Stearic Acid as a Potential PDK1 Inhibitor and In Vitro Validation of Stearic Acid as Colon Cancer Therapeutic in Combination with 5-Fluorouracil
Authors: Mitchel Jonathan , Bajaj Pratima , Patil Ketki , Gunnarson Austin , Pourchet Emilie , Kim Yoo Na , Skolnick Jeffrey , Pai S. Balakrishna 
Published: December 2021

Background: Colorectal cancer is the third largest cause of cancer-related mortality worldwide. Although current treatments with chemotherapeutics have allowed for management of colorectal cancer, additional novel treatments are essential. Intervening with the metabolic reprogramming observed in cancers called “Warburg Effect,” is one of the novel strategies considered to combat cancers. In the metabolic reprogramming pathway, pyruvate dehydrogenase kinase (PDK1) plays a pivotal role. Identification and characterization of a PDK1 inhibitor is of paramount importance. Further, for efficacious treatment of colorectal cancers, combinatorial regimens are essential. To this end, we opted to identify a PDK1 inhibitor using computational structure-based drug design FINDSITEcomb and perform combinatorial studies with 5-FU for efficacious treatment of colorectal cancers. Methods: Using computational structure-based drug design FINDSITEcomb, stearic acid (SA) was identified as a possible PDK1 inhibitor. Elucidation of the mechanism of action of SA was performed using flow cytometry, clonogenic assays. Results: When the growth inhibitory potential of SA was tested on colorectal adenocarcinoma (DLD-1) cells, a 50% inhibitory concentration (IC50) of 60 µM was recorded. Moreover, SA inhibited the proliferation potential of DLD-1 cells as shown by the clonogenic assay and there was a sustained response even after withdrawal of the compound. Elucidation of the mechanism of action revealed, that the inhibitory effect of SA was through the programmed cell death pathway. There was increase in the number of apoptotic and multicaspase positive cells. SA also impacted the levels of the cell survival protein Bcl-2. With the aim of achieving improved treatment for colorectal cancer, we opted to combine 5-fluorouracil (5-FU), the currently used drug in the clinic, with SA. Combining SA with 5-FU, revealed a synergistic effect in which the IC50 of 5-FU decreased from 25 to 6 µM upon combination with 60 µM SA. Further, SA did not inhibit non-tumorigenic NIH-3T3 proliferation. Conclusions: We envision that this significant decrease in the IC50 of 5-FU could translate into less side effects of 5-FU and increase the efficacy of the treatment due to the multifaceted action of SA. The data generated from the current studies on the inhibition of colorectal adenocarcinoma by SA discovered by the use of the computational program as well as synergistic action with 5-FU should open up novel therapeutic options for the management of colorectal adenocarcinomas.
Influence of GSTP1 Polymorphism on the Clinical Outcomes of Patients With Advanced NSCLC Receiving First-Line Bevacizumab-Based Regimen: A Real-World Retrospective Study
Authors: Han Fei , Tian Hanji , Jin Baoli , Chen Gang 
Published: December 2021

Background: This study was to investigate the influence of GSTP1 gene polymorphism on the clinical outcomes of patients with advanced non-small-cell lung cancer (NSCLC) receiving first-line bevacizumab plus chemotherapy regimen. Methods: A total of 128 patients with advanced NSCLC who were administered with bevacizumab-based first-line regimens were recruited in this study. Available blood specimen and peripheral blood mononuclear cells (PBMCs) of the patients were obtained for the analysis of polymorphism and GSTP1 gene mRNA expression, respectively. The association between genotype status and clinical outcomes and other variates was analyzed and presented. Results: The prevalence of rs1695 were in accordance with Hardy-Weinberg Equilibrium ( P = .978). Patients with GG and AG genotypes were merged in a pattern of dominant inheritance to seek for the potentially clinical significance. Analysis of efficacy exhibited that the objective response rate (ORR) of patients with AA genotype and AG/GG genotypes were 62.1% (54/87) and 51.2% (21/41) ( P = 0.245). Prognosis demonstrated that the median progression-free survival (PFS) of patients with AA genotype and AG/GG genotypes were 9.5 and 5.6 months, respectively ( P = .007). Furthermore, the median overall survival (OS) of the two genotypes were 22.0 and 16.6 months, respectively ( P = .003). In addition, adjusted in multivariate Cox analysis for OS, AG/GG genotype was an independent factor for OS. Interestingly, mRNA analysis suggested that the mRNA expression of GSTP1 in PBMC of the patients with AG/GG genotypes of rs1695 polymorphism was significantly higher than those of patients with AA genotype ( P < .001). Conclusion: GSTP1 polymorphism rs1695 could be used for the prognostic evaluation of patients with advanced NSCLC receiving bevacizumab combined chemotherapy regimen.
Gastrointestinal concerns in children with autism spectrum disorder: A qualitative study of family experiences
Authors: Holingue Calliope , Poku Ohemaa , Pfeiffer Danika , Murray Sarah , Fallin M. Daniele 
Published: December 2021

Gastrointestinal distress is a prevalent issue in the autism spectrum disorder community, with implications for the person living with autism spectrum disorder and their families. However, the experiences of families caring for a child with co-occurring autism spectrum disorder and gastrointestinal symptoms have not been explored to date. We conducted one-on-one semi-structured interviews with 12 parents of children with co-occurring autism spectrum disorder and gastrointestinal symptoms. Using an inductive analysis approach, drawing on phenomenology, we identified four major themes across interviews. First, parents reported that their child had difficulty verbally communicating the presence of gastrointestinal symptoms, leading parents to rely on bodily signs and non-verbal behaviors to recognize when their child was experiencing gastrointestinal distress (Theme 1). Next, gastrointestinal issues impacted the child’s well-being and the ability to participate in and fully engage in activities (Theme 2), and the family’s well-being (Theme 3). Finally, parents often experienced challenges with seeking accessible and quality healthcare for their child’s gastrointestinal problems (Theme 4). These findings elucidate the incredible toll that gastrointestinal symptoms have on the overall wellness of children with autism spectrum disorder and their families. Lay abstract Gastrointestinal problems are common in the autism spectrum disorder community and may affect both the person with autism spectrum disorder and their families. However, little research is available on the experiences of families who have a child with both autism spectrum disorder and gastrointestinal symptoms. We held one-on-one interviews with 12 parents of children who had both autism spectrum disorder and gastrointestinal symptoms. We analyzed the raw text responses from these interviews and identified four main themes. First, parents shared that their children had trouble verbally communicating when they were experiencing gastrointestinal symptoms (Theme 1). This led parents to use bodily signs, such as changes in the stool, and non-verbal behaviors, such as irritability, to recognize when their child was having gastrointestinal symptoms. Next, gastrointestinal issues affected both the child’s well-being and their ability to attend class and extracurricular or social activities (Theme 2). The gastrointestinal issues also affected the family’s routines, overall well-being, and their ability to go out and do activities together as a family (Theme 3). Finally, parents often had challenges receiving accessible and quality healthcare for their child’s gastrointestinal problems (Theme 4). Together, these findings highlight the enormous burden that gastrointestinal symptoms have on the wellness of children with autism spectrum disorder and their families.
Validity of chronic disease diagnoses in Icelandic healthcare registries
Authors: Rögnvaldsson Sæmundur , Long Thorir Einarsson , Thorsteinsdottir Sigrun , Love Thorvardur Jon , Kristinsson Sigurður Yngvi 
Published: December 2021

Aims: To evaluate the validity of recorded chronic disease diagnoses in Icelandic healthcare registries. Methods: Eight different chronic diseases from multiple sub-specialties of medicine were validated with respect to accuracy, but not to timeliness. For each disease, 30 patients with a recorded diagnosis and 30 patients without the same diagnosis were randomly selected from >80,000 participants in the iStopMM trial, which includes 54% of the Icelandic population born before 1976. Each case was validated by chart review by physicians using predefined criteria. Results: The overall accuracy of the chronic disease diagnoses was 96% (95% CI 94–97%), ranging from 92 to 98% for individual diseases. After weighting for disease prevalence, the accuracy was estimated to be 98.5%. The overall positive predictive value (PPV) of chronic disease diagnosis was 93% (95% CI 89–96%) and the overall negative predictive value (NPV) was 99% (95% CI 96–100%). There were disease-specific differences in validity, most notably multiple sclerosis, where the PPV was 83%. Other disorders had PPVs between 93 and 97%. The NPV of most disorders was 100%, except for hypertension and heart failure, where it was 97 and 93%, respectively. Those who had the registered chronic disease had objective findings of disease in 96% of cases. Conclusions: When determining the presence of chronic disease, diagnosis data from the Icelandic healthcare registries has a high PPV, NPV and accuracy. Furthermore, most diagnoses can be confirmed by objective findings such as imaging or blood testing. These findings can inform the interpretation of studies using diagnostic data from the Icelandic healthcare registries.
Experiences of Participants Who Then Become Coaches in a Peer Coach Diabetes Self-Management Program: Lessons for Future Programs
Authors: Saint Kirin , Heisler Michele 
Published: December 2021

Objectives Peer support programs are effective in improving outcomes among low-resource populations. Prior studies suggest that shared experiences improve peer partnerships. We hypothesized that participants in a peer coaching program who then became coaches might bring insight into their coaching role. We explored the motivations of coaches in a diabetes self-management coaching program who became coaches after completing the program as participants. Methods Between June 2016 and April 2017 we conducted semi-structured interviews with eight participants-turned-coaches and four of their peer partners in a six-month peer coaching program for patients with poor glycemic control at the Detroit VA. The interviews were transcribed, reviewed and coded by two researchers in an iterative process until consensus was reached. Key themes were identified and analyzed. Results Participants-turned-coaches reported the importance of their own peer coach in their decision to become a coach. Participants-turned-coaches described commitment to their partners, providing realistic encouragement, and fostering a reciprocal partnership. Participants-turned-coaches shared their own difficulties to motivate their partners and create a sense of commonality. Discussion Encouraging participants who complete diabetes peer coach interventions to become coaches appears to be a useful strategy for developing peer coaches who bring sensitivity, commitment, and reciprocity to their role.
Designing an mHealth Roadmap for the Journey to Self-Management: A Qualitative Study with Adolescents and Young Adults Living with Chronic Illness
Authors: Sayegh Caitlin S. , Iverson Ellen , Newman Clarissa , Tanaka Diane , Olshansky Ellen F. , Wijaya Clarisa , Belzer Marvin 
Published: December 2021

Objectives Adolescents and young adults (AYA) with chronic illnesses often struggle with illness self-management. The objective of this study is to understand how AYA with various chronic illnesses develop self-management skills and which mobile health (mHealth) strategies they believe could be helpful. Methods Semi-structured interviews were conducted with patients, between 16 to 20 years old, living with at least one chronic illness (N = 19), between 2018 and 2019 in Los Angeles, CA. Three coders completed thematic coding to understand how AYA develop and maintain self-management skills, to inform the development of mHealth interventions appropriate across a variety of chronic conditions. Results Results suggest that AYA develop self-management skills through several strategies, including (1) getting organized, (2) making it work for me and (3) keeping the right mentality. AYA described developing these strategies through: (1) receiving social support, (2) accessing helpful tools and technologies, and (3) going through a maturation process. They provided recommendations for mHealth intervention developers. Discussion The results suggest that an appealing mHealth intervention could support AYA patients in proactively acquiring self-management skills and prevent having to rely on trial and error or uneven access to guidance and support. Interventions should be responsive to individual technology preferences and practices.
Exploring the Utility of the Emerging Adulthood Theory Among Military Members and Veterans with Risky Substance Use
Authors: Clary Kelly Lynn , Lavi Topaz , Smith Douglas C. , Saban Jessica 
Published: December 2021

Emerging adult (EA; aged 18–29) military members experience major career, life, and developmental transitions. The conglomeration of these changes may influence or exacerbate anxiety or stress, produce challenges, and lead to negative coping mechanisms, such as substance use. This study sought to understand the utility of the five Emerging Adulthood Theory (EAT) dimensions among a sample of military members and veterans with risky substance use. To our knowledge, the applicability of EAT has not been explored with United States military populations. During 2019, we completed 24 semi-structured interviews. On average, participants were 24.9 years old, male, white, and in the United States Marine Corps. We asked about experiences transitioning into adulthood, military culture, and experiences of the five EAT dimensions. Three coders employed rigorous theory-driven thematic analysis procedures to piece together themes. We report EA military members’ experiences with the EAT dimensions, focusing on nuances related to the influence of military culture.