bluuebunny/crossref_metadata_2025_split huggingface dataset:
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome
Authors: Sheth Harsh , Naik Premal , Shah Maulin , Bhavsar Riddhi , Nair Aadhira , Sheth Frenny , Sheth Jayesh 
Published: June 2022

Abstract
Background
Mucopolysaccharidosis IVA (Morquio syndrome A, MPS IVA) is an autosomal recessive lysosomal storage disorder caused due to biallelic variants in the N-acetylgalactoseamine-6-sulfate sulfatase (GALNS) gene. The mutation spectrum in this condition is determined amongst sub-populations belonging to the north, south and east India geography, however, sub-populations of west Indian origin, especially Gujarati-Indians, are yet to be studied. We aimed to analyse the variants present in the GLANS gene amongst the population of Gujarat by sequencing all exons and exon–intron boundaries of the GALNS gene in patients from 23 unrelated families.

Results
We report 11 variants that include eight missense variants: (p.L36R, p.D39G, p.P77R, p.C79R, pP125L, p.P151L, p.G255A and p.L350P), one splice site variant: (c.121-7C > G), one small insertion: (c.1241_1242insA, p.I416HfsTer2) and one small deletion: (c.839_841delACA). Of these, three missense variants (p.D39G, p.G255A and p.L350P), one splice site and the two indels mentioned above are novel. Interestingly, we observed a higher than anticipated prevalence of p.P77R variant in our cohort (n = 14/25, 56%). Haplotype analysis in cases with p.P77R variant and 63 ethnicity matched healthy population controls suggested a 4 SNP haplotype block present in cases compared to controls (likelihood ratio test p-value = 1.16 × 10–13), thereby suggesting p.P77R variant as a founder variant in the Gujarati-Indian population. Furthermore, age of mutation analysis suggested the variant to have arisen approximately 450 years ago in the population.

Conclusion
p.P77R variant in the GLANS gene is likely to be a founder variant in MPS IVA patients of Gujarati-Indian ancestry and appeared approximately 450 years ago in the population. To our knowledge, this is the first variant to be posited as a founder variant in the GLANS gene in patients with MPS IVA syndrome.
Effect of spontaneous breathing trial on extubation in patients with acute exacerbation of chronic obstructive pulmonary disease under mechanical ventilation
Authors: Liu Wenjing , Guo Hong , Wang Jing , Ding Fang 
Published: June 2022

Abstract
Objective
To evaluate how spontaneous breathing trial (SBT) affects successful extubation and prognosis in acute exacerbation of chronic obstructive pulmonary disease (AECOPD) patients under mechanical ventilation.

Methods
AECOPD patients under invasive mechanical ventilation were recruited into the study and divided into the SBT and non-SBT groups. SBT patients received SBT for 60 min before extubation, while non-SBT patients that met weaning criteria were immediately extubated without SBT.

Results
A total of 64 patients were enrolled in analysis, including 32 in SBT group and 32 in non-SBT group. Patients in the two groups had similar baseline demographics and clinical characteristics (all parameters: p =  > 0.05). Four (12.5%) patients in the SBT group and 5 (15.6%) in the non-SBT group were reintubated in 48 h of extubation (p = 0.821). During the 28-day follow-up after extubation, 3 patients died, 1 (3.1%) in the SBT group and 2 (6.3%) in the non-SBT group (p = 0.554).

Conclusion
Our findings indicate that SBT did not affect extubation success, in-hospital mortality, and 28-day survival in AECOPD patients under mechanical ventilation.
Clinico-pathological characteristics of obstructing colorectal cancer and its management outcomes at a tertiary referral center of Eastern Nepal
Authors: Kumar Abhijeet , Dhungana Sajan Babu , Gupta Rakesh Kumar , Sah Suresh Prasad , khanal Bhawani 
Published: June 2022

Abstract
Background
The aim of this study is to explore the treatment strategies being followed for patients with obstructing colorectal cancer (OCRC) at our institute and to know the management outcomes.

Methods
This study included 28 patients who were diagnosed with obstructing colorectal cancer (OCRC) either preoperatively or intraoperatively over a period of 5 years.

Results
Most were in the younger age group with mean age of 49.78 ± 15.96 years with 1/4th of the patients being younger than 40. There was no difference in incidence of OCRC among genders. It was found to be common in rural areas of the eastern Nepal, 16(57%) patients from such areas. 21.4% patients had complete bowel obstruction at presentation. The investigating modalities used were abdominal X-ray, ultrasonoghraphy of abdomen/pelvis, abdominal CT-scan, colonoscopy, serum CEA, punch biopsy and Faecal occult blood test. The anatomical shift to the right was observed with 54% lesions in the proximal colon. Majority were in advanced stage (stage 3:53.6%, stage 4:32.1%) with histologically adenocarcinoma (100%) and a higher incidence of synchronous lesion (28.6%). Patients averaged 13.82 days in the hospital with post-operative mortality rate of 3.6%. The 1-year and 2-years disease free survivals were 89.3% and 82.1% while overall survivals were 92.8% and 82.1% respectively.

Conclusion
In developing countries like ours, relatively younger patients present to health center with obstructive colorectal cancer with anatomical shift to the right sided lesions. The treatments provided at our center and their outcomes are not inferior to that of the developed world.
A randomised control trial protocol of MuST for vascular access cannulation in hemodialysis patients (MuST Study): contributions for a safe nursing intervention
Authors: Peralta Ricardo , Wammi Anna , Stauss-Gabo Manuela , Dias Óscar , Carvalho Helena , Cristóvão António 
Published: June 2022

Abstract
Background
The vascular access preservation and the maintenance of a complication-free fistula remains an Achilles’ heel of hemodialysis in chronic kidney patients due to its substantial contribution to the morbidity and mortality. Systematic studies in the area of examining cannulation practices, achieving complication-free cannulation, and strategies to improve fistula survival are needed. For this reason, we consider it essential to create and investigate new methodologies for approaching fistula in patients on regular HD.
The Multiple Single Cannulation Technique (MuST) is based on the association between the rope-ladder (RL) using the arteriovenous vessel through progressive rotation, and the buttonhole (BH) since there are three specific cannulation sites for each cannulation day during the week. The MuST is simple to implement and seems to be a very promising technique in terms of patient safety. Previous studies already showed an arteriovenous fistula survival similar to RL but significantly higher than BH.

Methods
This MuST study is a multicenter, prospective, non-blind, parallel-group, randomized controlled trial with the intervention group submitted to MuST and a control group undergoing the rope-ladder, up to 100 subjects for each group. Patients will be randomized 1:1 to one of two cannulation technique (CT), and the follow-up period of this study will be 12 months. Primary outcome is to evaluate the arteriovenous fistula survival rate at 12 months determined by the percentage of fistulas in use from the beginning of the study to the date of the first clinical intervention by angioplasty or vascular surgery, to maintain or restore patency (unassisted patency). Secondary outcome is to evaluate arteriovenous fistula survival rate at 12 month determined by the percentage of fistulas in use from the study start to the date of access abandonment due to dysfunction, patient abandonment, or death, treatment change modality or study end. We will also evaluate the assisted primary patency and include the following secondary outcomes associated with the cannulation technique: Infection, Hematoma, Aneurysm development, and pain.

Discussion
The study will investigate whether fistula survival can be improved when using cannulation by MuST compared to the RL. MuST study will provide important information on fistula survival when cannulated by MuST but also information related to its use in fistulas previously cannulated by other CTs.

Trial registration
ClinicalTrials.gov identifier NCT05081648 registered on 18 October 2021.
Influences of different referral modes on clinical outcomes after endovascular therapy for acute ischemic stroke
Authors: Hou Jie , Guo Zhi-liang , Huang Zhi-chao , Wang Huai-shun , You Shou-jiang , Xiao Guo-dong 
Published: June 2022

Abstract
Background and purpose
As endovascular thrombectomy (EVT) is time-dependent, it is crucial to refer patients promptly. Current referral modes include Mothership (MS), Drip and Ship (DS) and Drive the Doctor (DD). The purpose of this study was to investigate the influences of different referral modes on the clinical outcomes of patients with acute ischemic stroke after EVT.

Methods
A total of 349 patients from 15 hospitals between April 2017 and March 2020 were enrolled. The primary outcomes include poor outcome (modified Rankin Scale score of 3 to 6), symptomatic intracranial hemorrhage transformation (sICH), mortality and cost. Regression analysis was used to assess the association of referral modes with poor outcome, sICH, mortality and cost in acute ischemic stroke patients.

Results
Among the 349 patients, 83 were in DD group (23.78%), 85 in MS group (24.36%) and 181 in DS group (51.86%). There were statistically significant differences in intravenous thrombolysis, onset-to-door time, onset-to-puncture time, puncture-to-recanalization time, door-to-puncture time, door-to-recanalization time, and cost among the DD, MS, and DS groups (59.04% vs 35.29% vs 33.15%, P<0.001; 90 vs 166 vs 170 minutes, P<0.001; 230 vs 270 vs 270 minutes, P<0.001; 82 vs 54 vs 51 minutes, P<0.001; 110 vs 85 vs 96 minutes, P=0.004; 210 vs 146 vs 150 minutes, P<0.001; 64258 vs 80041 vs 70750 Chinese Yuan, P=0.018). In terms of sICH, mortality and poor outcome, there was no significant difference among the DD, MS, and DS groups (22.89% vs 18.82% vs 19.34%, P=0.758; 24.10% vs 24.71% vs 29.83%, P=0.521; 64.47% vs 64.71% vs 68.51%, P=0.827). The results of multiple regression analysis indicated that there was no independent correlation between different referral modes regarding sICH (ORMS: 0.50, 95%CI: 0.18, 1.38, P=0.1830; ORDS: 0.47, 95%CI: 0.19, 1.16, P=0.1000), mortality (ORMS: 0.56, 95%CI: 0.19, 1.67, P=0.2993; ORDS: 0.65, 95%CI: 0.25, 1.69, P=0.3744) and poor outcome (ORMS: 0.61, 95%CI: 0.25, 1.47, P=0.2705; ORDS: 0.53, 95%CI: 0.24, 1.18, P=0.1223). However, there was a correlation between MS group and cost (β=30449.73, 95%CI: 11022.18, 49877.29; P=0.0023). The multiple regression analysis on patients finally admitted in comprehensive stroke center (MS+DS) versus patients finally admitted in primary stroke center (DD) showed that DD mode was independently associated with lower costs (β=-19438.86, 95%CI: -35977.79, -2899.94; P=0.0219).

Conclusion
There was no independent correlation between three referral modes and sICH, mortality, poor outcome correspondingly. Different referral modes can be implemented in clinical practice according to the situations encountered. Compared to MS and DS modes, DD mode is more economical.
“Incidence, characteristics and prognosis of cervical artery dissection-induced ischemic stroke in central Iran”
Authors: Ranjbar Mahta , Badihian Negin , Yazdi Maryam , Milani Shahaboddin , Taheri Marzieh , Khorvash Fariborz , Saadatnia Mohammad 
Published: June 2022

Abstract
Objectives
Ischemic stroke is the most common presentation of cervical artery dissection (CAD). Information regarding CAD-induced stroke is scarce, especially in the Middle East. Here we investigated the incidence of CAD-induced stroke, its characteristics, and the clinical course in central Iran.

Methods
This is an observational study conducted in the city of Isfahan, Iran. We recruited patients with ischemic stroke during 2017–2019. We analyzed characteristics of the CAD-induced stroke patients with regards to the involved vessel (internal carotid artery dissection (ICAD) or vertebral artery dissection (VAD)). We assessed functional outcome (modified Rankin Scale [mRS]) and recanalization status after 1 year of follow-up.

Results
Among 3630 ischemic stroke patients, 51(1.4%) had CAD-induced stroke (mean age: 41.8 ± 12.6; 40.4% female; 28 and 19 ICAD and VAD cases, respectively). The crude incidence rate of CAD-induced stroke was 1.20/100,000/year (0.66/100,000/year and 0.45/100,000/year for strokes due to ICAD and VAD, respectively). mRS ≤ 2 was present in 63.8% of the patients after 1 year of follow-up. History of exercise during the last days before stroke occurrence was associated with a better follow-up mRS (β = -3.1, p-value: 0.037). Administration of anticoagulant or double-antiplatelets was related neither to mRS nor recanalization results. Trauma (27.7%), smoking (21.3%), and headache disorders/migraine (21.3%) were the most common reported factors.

Conclusion
We found a crude incidence rate of 1.20/100,000/year for CAD-induced stroke. Trauma, smoking, and headache disorders were the most common reported factors among our patients. CAD-induced stroke had a favorable long-term prognosis regardless of the type of the involved vessel or the used medication.
Loneliness and coping skill mediate the association between child maltreatment and depression for rural males and females
Authors: Wang Meiqi , Xu Meixia , Sun Long 
Published: June 2022

Abstract
Background
Child maltreatment is a prevalent and notable problem in rural China, and the prevalence and severity of depression in rural areas are higher than the national norm. Several studies have found that loneliness and coping skills respectively mediated the relationship between child maltreatment and depression. However, few studies have examined the roles of loneliness and coping skills in child maltreatment and depression based on gender differences.

Methods
All participants were from rural communities aged more than 18 years in Shandong province, and 879 valid samples (female:63.4%) ranging in age from 18 to 91 years old were analyzed. The Childhood Trauma Questionnaire-Short Form (CTQ-SF), the Center for Epidemiologic Studies-Depression (CES-D), the Simple Coping Style Questionnaire (SCSQ), and the Emotional and Social Loneliness Scale (ESLS) were used to evaluate child maltreatment, depression, coping skills and loneliness.

Results
Child maltreatment was more common and severe in males than females (F = 3.99; p < 0.05). Loneliness and coping skills partially mediated the relationship between child maltreatment and depression in males, but loneliness fully mediated the relationship between child maltreatment and depression in females.

Conclusion
In this study, males were more likely to experience child maltreatment. Child maltreatment and depression were correlated. We also found a mediating role of loneliness and coping skills for males and a mediating role of loneliness in females.
Catechol-O-methyltransferase activity in individuals with substance use disorders: a case control study
Authors: da Costa Azevedo Jacinto Nuno , Carvalho Cláudia , Serrão Maria Paula , Coelho Rui , Figueiredo-Braga Margarida , Vieira-Coelho Maria Augusta 
Published: June 2022

Abstract
Background
Impulsivity and substance use disorders (SUD) have been both associated with changes in dopaminergic processes. In this study, we intended to evaluate the dopaminergic function in imprisoned SUD offenders through the determination of s-COMT activity.

Methods
The study included 46 male individuals from a Portuguese penal institution. The participants were assessed through a battery of standardised instruments: Psychopathy Checklist-Revised (PCL-R), Barratt Impulsivity Scale Version 11 (BIS-11), and the European version of the Addiction Severity Index (EuropASI). In addition, s-COMT erythrocyte activity was evaluated.

Results
Overall, 73.9% (n = 34) of the individuals had Antisocial personality disorder (ASPD) and 58.7% (n = 27) presented SUD. We evidenced, for the first time, that, in individuals with SUD, s-COMT activity was correlated with the severity of drug dependence (EuropASI) (p = 0.009), and with BIS-11 factors self-control (p < 0.0001) and non-planning (p = 0.002).

Conclusions
This study opens new perspectives regarding the pharmacological intervention on substance dependence through the interference on dopamine pathways.
Young men are at higher risk of failure after ACL hamstring reconstructions: a retrospective multivariate analysis
Authors: Keuning Martine C. , Robben Bart J. , Brouwer Reinoud W. , Stevens Martin , Bulstra Sjoerd K. , Zuurmond Rutger G. 
Published: June 2022

Abstract
Background
Results of ACL reconstruction are influenced by both patient and surgical variables. Until now a significant amount of studies have focused on the influence of surgical technique on primary outcome, often leaving patient variables untouched. This study investigates the combined influence of patient and surgical variables through multivariate analysis.

Methods
Single-center retrospective cohort study. All patients who underwent primary ACL hamstring reconstruction within a 5-year period were included. Patient characteristics (gender, age, height, weight, BMI at time of surgery) and surgical variables (surgical technique, concomitant knee injury, graft diameter, type of femoral and tibial fixation) were collected. Patients were asked about Tegner Activity Scale (TAS), complications and revision surgery. Multivariate logistic regression was used to study risk factors. First graft failure and potential risk factors (patient and surgical) were univariately assessed. Risk factors with a p-value ≤ 0.05 were included in the multivariate model.

Results
Six hundred forty-seven primary ACL hamstring reconstructions were included. There were 41 graft failures (failure rate 6.3%). Patient gender, age, height and preoperative TAS had a significant influence on the risk of failure in the univariate analysis. The multivariate analyses showed that age and sex remained significant independent risk factors. Patients with a failed ACL reconstruction were younger (24.3 vs 29.4 years, OR 0.937), with women at a lower risk for failure of their ACL reconstruction (90.2% males vs 9.8% females, female OR 0.123). ACL graft diameter and other surgical variables aren’t confounders for graft failure.

Conclusion
This study shows that patient variables seem to have a larger influence on the failure rate of ACL hamstring reconstructive surgery than surgical variables. Identification of the right patient variables can help us make more informed decisions for our patients and create patient-specific treatment protocols. Young men’s higher risk of failure suggests that these patients may benefit from a different reconstruction technique, such as use of a patellar tendon or combined ligament augmentation.

Level of evidence
Retrospective cohort III.
Epidemiological profile of anterior cruciate ligament injuries in a tertiary referral trauma center of Nepal
Authors: Joshi Amit , Singh Nagmani , Basukala Bibek , Bista Rohit , Maharjan Bibek , Pradhan Ishor 
Published: June 2022

Abstract
Background
Sports related injuries are the leading cause of Anterior Cruciate Ligament (ACL) tear in the Western world. Although professional and recreational sporting activities are increasing in Nepal, they are not as common and prevalent in comparison to western world. In contrast, Road Traffic Accident (RTA) is a very common cause of knee injuries in Nepal. Although there are some studies from Nepal mentioning Road Traffic Accidents (RTAs) as the most common cause of ACL injury, no specific studies have primarily investigated the epidemiological and demographic profile of ACL injured patients from this region. we aimed to understand the epidemiological and demographic profile of ACL injured patients and evaluate the mode of injury in a tertiary referral trauma center of Nepal.

Methods
This was a retrospective descriptive study of a hospital cohort conducted from February 2018 to January 2020. Electronic details were retrieved, telephone interviews conducted and data analysis was done using descriptive analysis on the patients from the fore mentioned dates to complete demographic and epidemiological information.

Results
A total of 237 patients were enrolled in this study. Among these, 120 patients (50.6%) fell into the age group of 15–30 years with a male to female ratio of 2.7:1. A RTA was the most common cause of ACL injury (38.8%), followed by sports-related injuries in 33.3% and falls in 16.5% of patients. The most common mode of RTA was a two-wheeler accident, and football was the most common sport causing ACL injuries. Sports injury was more common in patients below 30 years of age (OR = 3.5, 95% CI [2.2, 5.7]), whereas RTA was more common in patients above 30 years of age. Sports was the cause of ACL injury in 55.5% of students and RTAs was the commonest cause of ACL injury in office workers.

Conclusion
Overall males were more frequently injured than females. Road traffic accidents were the most common cause of ACL injury in our subset of patients. Two-wheeler riders were the most commonly injured patients. Sport was the commonest cause of ACL injury in patients below 30 years, and RTA was common in patients above 30 years of age. Sports were the commonest cause of ACL injury in students, while RTA was the most common cause in office workers.
Testing delivery of components of cognitive behavioral therapy for insomnia to breast cancer survivors by smart speaker: a study protocol
Authors: Starling Claire M. , Greenberg Daniel , Zhou Eric , Lewin Daniel , Morrow Allison S. , Lieberman Daniel , Shaw Callen , Arem Hannah 
Published: June 2022

Abstract
Background
Insomnia is common in breast cancer survivors (BCS), affecting an estimated 30–50% of the 3.8 million BCS in the US. Insomnia is associated with health consequences for cardiometabolic and immune systems, neurobehavioral function, depression, fatigue, and quality of life and may put BCS at particular risk. While pharmacotherapy for insomnia may address symptoms in the short-term, cognitive behavioral therapy for insomnia (CBT-I) is considered the gold standard insomnia treatment. We describe our protocol to determine the efficacy of voice-activated delivery of CBT-I components on insomnia symptoms compared to a sleep education control among BCS.

Methods
We will conduct a 6-week, randomized controlled trial with two arms. Intervention arm participants will receive a smart speaker device and will be asked to engage with the program daily, using a voice-activated speaker with an accompanying smart-phone app. Control participants will have access to a website with basic information about CBT-I, sleep, and breast cancer survivorship and will be asked to engage with the website as desired.

Discussion
Our primary outcome is the Insomnia Severity Index total score. Secondary outcomes include sleep diary outcomes (sleep efficiency, wake after sleep onset, sleep onset latency, total sleep time, and sleep quality). This study will provide evidence on a promising modality to deliver elements of CBT-I for BCS experiencing insomnia.
Trial Registration ClinicalTrials.gov NCT05233800 Released 3/25/2022.