bluuebunny/crossref_metadata_2025_split huggingface dataset:
PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome
Authors: Shahroor Maher A , Lasorsa Francesco M , Porcelli Vito , Dweikat Imad , Di Noia Maria Antonietta , Gur Michal , Agostino Giulia , Shaag Avraham , Rinaldi Teresa , Gasparre Giuseppe , Guerra Flora , Castegna Alessandra , Todisco Simona , Abu-Libdeh Bassam , Elpeleg Orly , Palmieri Luigi 
Published: December 2021

Abstract

Context
The hyperinsulinism/hyperammonemia (HI/HA) syndrome, the second-most common form of congenital hyperinsulinism, has been associated with dominant mutations in GLUD1, coding for the mitochondrial enzyme glutamate dehydrogenase, that increase enzyme activity by reducing its sensitivity to allosteric inhibition by GTP.

Objective
To identify the underlying genetic etiology in 2 siblings who presented with the biochemical features of HI/HA syndrome but did not carry pathogenic variants in GLUD1, and to determine the functional impact of the newly identified mutation.

Methods
The patients were investigated by whole exome sequencing. Yeast complementation studies and biochemical assays on the recombinant mutated protein were performed. The consequences of stable slc25a36 silencing in HeLa cells were also investigated.

Results
A homozygous splice site variant was identified in solute carrier family 25, member 36 (SLC25A36), encoding the pyrimidine nucleotide carrier 2 (PNC2), a mitochondrial nucleotide carrier that transports pyrimidine as well as guanine nucleotides across the inner mitochondrial membrane. The mutation leads to a 26-aa in-frame deletion in the first repeat domain of the protein, which abolishes transport activity. Furthermore, knockdown of slc25a36 expression in HeLa cells caused a marked reduction in the mitochondrial GTP content, which likely leads to a hyperactivation of glutamate dehydrogenase in our patients.

Conclusion
We report for the first time a mutation in PNC2/SLC25A36 leading to HI/HA and provide functional evidence of the molecular mechanism responsible for this phenotype. Our findings underscore the importance of mitochondrial nucleotide metabolism and expand the role of mitochondrial transporters in insulin secretion.
Górski gatunek Chamaenerion palustre (Onagraceae) w Wielkopolsce
Authors: Czarna Aneta 
Published: December 2021

Chamaenerion palustre is distributed in Poland mostly in mountains. It was found in the lowland of Wielkopolska at two ruderal localities on rocky substrates: in 2008 in the town of Buk on a railway siding, and in 2019 in the town of Głogów near railway tracks at the train station.
Anatomical reconstruction of the anterior inferior tibiofibular ligament in elite athletes using InternalBrace suture tape
Authors: Harris Nick J. , Nicholson Gareth , Pountos Ippokratis 
Published: December 2021

Aims The ideal management of acute syndesmotic injuries in elite athletes is controversial. Among several treatment methods used to stabilize the syndesmosis and facilitate healing of the ligaments, the use of suture tape (InternalBrace) has previously been described. The purpose of this study was to analyze the functional outcome, including American Orthopaedic Foot & Ankle Society (AOFAS) scores, knee-to-wall measurements, and the time to return to play in days, of unstable syndesmotic injuries treated with the use of the InternalBrace in elite athletes. Methods Data on a consecutive group of elite athletes who underwent isolated reconstruction of the anterior inferior tibiofibular ligament using the InternalBrace were collected prospectively. Our patient group consisted of 19 elite male athletes with a mean age of 24.5 years (17 to 52). Isolated injuries were seen in 12 patients while associated injuries were found in seven patients (fibular fracture, medial malleolus fracture, anterior talofibular ligament rupture, and posterior malleolus fracture). All patients had a minimum follow-up period of 17 months (mean 27 months (17 to 35)). Results All patients returned to their pre-injury level of sports activities. One patient developed a delayed union of the medial malleolus. The mean return to play was 62 days (49 to 84) for isolated injuries, while the patients with concomitant injuries returned to play in a mean of 104 days (56 to 196). The AOFAS score returned to 100 postoperatively in all patients. Knee-to-wall measurements were the same as the contralateral side in 18 patients, while one patient lacked 2 cm compared to the contralateral side. Conclusion This study suggests the use of the InternalBrace in the management of unstable syndesmotic injuries offers an alternative method of stabilization, with good short-term results, including early return to sports in elite athletes. Cite this article: Bone Joint J 2022;104-B(1):68–75.
Outcomes of soft-tissue sarcoma in nonagenarians
Authors: Hartley Laura J. , AlAqeel Motaz , Kurisunkal Vineet J. , Evans Scott 
Published: December 2021

Aims Current literature suggests that survival outcomes and local recurrence rates of primary soft-tissue sarcoma diagnosed in the very elderly age range, (over 90 years), are comparable with those in patients diagnosed under the age of 75 years. Our aim is to quantify these outcomes with a view to rationalizing management and follow-up for very elderly patients. Methods Retrospective access to our prospectively maintained oncology database yielded a cohort of 48 patients across 23 years with a median follow-up of 12 months (0 to 78) and mean age at diagnosis of 92 years (90 to 99). Overall, 42 of 48 of 48 patients (87.5%) were managed surgically with either limb salvage or amputation. Results A lower overall local recurrence rate (LRR) was seen with primary amputations compared with limb salvage (p > 0.050). The LRR was comparable between free (R0), microscopically (R1), and macroscopically positive (R2) resection margins in the limb salvage group. Amputation was also associated with longer survival times (p < 0.050). Overall median survival time was limited to 20 months (0 to 80). Conclusion Early and aggressive treatment with appropriate oncological surgery confers the lowest LRR and a survival advantage versus conservative treatment in this cohort of patients. With limited survival, follow-up can be rationalized on a patient-by-patient basis using alternative means, such as GP, local oncology, and/or patient-led follow-up. Cite this article: Bone Joint J 2022;104-B(1):177–182.
Does the modified Glasgow Prognostic Score aid in the management of patients undergoing surgery for a soft-tissue sarcoma?
Authors:   The mGPS Study Group, Spence Stephanie , Doonan James , Farhan-Alanie Omer M. , Chan Corey D. , Tong Daniel , Cho Hwan Seong , Sahu Muhammad A. , Traub Frank , Gupta Sanjay 
Published: December 2021

Aims The modified Glasgow Prognostic Score (mGPS) uses preoperative CRP and albumin to calculate a score from 0 to 2 (2 being associated with poor outcomes). mGPS is validated in multiple carcinomas. To date, its use in soft-tissue sarcoma (STS) is limited, with only small cohorts reporting that increased mGPS scores correlates with decreased survival in STS patients. Methods This retrospective multicentre cohort study identified 493 STS patients using clinical databases from six collaborating hospitals in three countries. Centres performed a retrospective data collection for patient demographics, preoperative blood results (CRP and albumin levels and neutrophil, leucocyte, and platelets counts), and oncological outcomes (disease-free survival, local, or metastatic recurrence) with a minimum of two years' follow-up. Results We found that increased mGPS, tumour size, grade, neutrophil/lymphocyte ratio, and disease recurrence were associated with reduced survival. Importantly, mGPS was the best at stratifying prognosis and could be used in conjunction with tumour grade to sub-stratify patient survival. Conclusion This study demonstrated that prognosis of localized STS strongly correlates with mGPS, as an increasing score is associated with a poorer outcome. We note that 203 patients (41%) with an STS have evidence of systemic inflammation. We recommend the mGPS and other biochemical blood indicators be introduced into the routine diagnostic assessment in STS patients to stratify patient prognosis. Its use will support clinical decision-making, especially when morbid treatment options such as amputation are being considered. Cite this article: Bone Joint J 2022;104-B(1):168–176.
Measurement and spatiotemporal analysis of high-quality development of China’s industry
Authors: Yang Yuexiang , Ren Lei , Du Zhihui , Tong Guanqun 
Published: December 2021

Background
China’s economy has been transitioning from a phase of rapid growth to high-quality development. The high-quality development of industry is the foundation of a sustainable and healthy growth of national economy, and is of great significance to improve people’s living standards, and to meet people’s needs for a better life.

Methods
We develop an evaluation index system of high-quality development of industry from the perspectives of industrial benefit, innovation ability, coordination ability, green ability, opening ability and sharing ability. Based on a panel data of 30 provinces in China during 1999–2018, we evaluate the level of high-quality development of industry using the entropy-weight method and Technique for Order Preference by Similarity to an Ideal Solution (TOPSIS) method. Meanwhile we select six specific years and adopt the Natural Breaks method to classify the provinces according to their levels. At last, Moran’s I index is used to analyze the spatial correlation among the provinces.

Results
Opening ability and innovation ability are found to have greater impacts on industrial high-quality development than other indices, and their influence has been increasing in recent years. There are large spatial and temporal differences among different provinces. Municipalities and coastal provinces are found to be at constantly high levels. The levels in the central region dropped first and then increased, however it was the opposite in the western region. In the northeast region, the levels fluctuated greatly. Overall, the high-quality development of industry among China’s provinces shows positive spatial correlation. Most provinces in China are in High-High and Low-Low clustering States. The High-High clustering type is mainly distributed in the eastern region and the Low-Low clustering type is mainly distributed in the western and central regions.

Conclusion
(1) Innovation ability and open ability are the most important factors. (2) Green ability has not sufficiently contributed to China’s industrial development. (3) Regional and time evolution differences are significant. (4) There is a significant and stable spatial clustering effect in the high-quality development of industry among China’s provinces.
Effects of weather and moon phases on emergency medical use after fall injury: A population-based nationwide study
Authors: Yuh Min Ah , Kim Kisung , Woo Seon Hee , Jeong Sikyoung , Oh Juseok , Kim Jinwoo , Hong Sungyoup 
Published: December 2021

BackgroundPrevious studies reported that changes in weather and phases of moon are associated with medical emergencies and injuries. However, such studies were limited to hospital or community level without explaining the combined effects of weather and moon phases. We investigated whether changes in weather and moon phases affected emergency department (ED) visits due to fall injuries (FIs) based on nationwide emergency patient registry data.MethodsNationwide daily data of ED visits after FI were collected from 11 provinces (7 metropolitan cities and 4 rural provinces) in Korea between January 2014 and December 2018. The daily number of FIs was standardized into FI per million population (FPP) in each province. A multivariate regression analysis was conducted to elucidate the relationship between weather factors and moon phases with respect to daily FPP in each province. The correlation between weather factors and FI severity was also analyzed.ResultsThe study analyzed 666,912 patients (418,135 in metropolitan and 248,777 in rural areas) who visited EDs on weekdays. No regional difference was found in age or gender distribution between the two areas. Precipitation, minimum temperature and wind speed showed a significant association with FI in metropolitan areas. In addition, sunshine duration was also substantial risk factors for FI in rural areas. The incidence of FIs was increased on full moon days than on other days in rural areas. Injury severity was associated with weather factors such as minimum temperature, wind speed, and cloud cover.ConclusionWeather changes such as precipitation, minimum temperature, and wind speed are associated with FI in metropolitan and rural areas. In addition, sunshine duration and full moon are significantly associated with FI incidence only in rural areas. Weather factors are associated with FI severity.
Evidence for use of a healthy relationships assessment tool in the CHARISMA pilot study
Authors: Tolley Elizabeth E. , Martinez Andres , Zissette Seth , Palanee-Phillips Thesla , Mathebula Florence , Tenza Siyanda , Hartmann Miriam , Montgomery Elizabeth T. 
Published: December 2021

IntroductionThe CHARISMA intervention, nested within the MTN-025/HOPE vaginal ring trial in Johannesburg, South Africa, seeks to facilitate women’s use of HIV prevention products by promoting partner dialogue and mitigating intimate partner violence (IPV). We developed “HEART”, a lay counselor-administered relationship assessment tool, for the CHARISMA pilot. The five-scale tool assesses participants’ endorsement of Traditional Values (TV), her HIV Prevention Readiness (HPR) and levels of partner support (PS), abuse and control (PAC), and resistance to HIV prevention (PR), guiding decisions about which of three counselling modules to offer (partner communication/A; ring disclosure/B; and IPV prevention/C).MethodsWe correlated baseline scores on HEART subscales with a) independent measures of relationship stability, disclosure and IPV to assess construct validity, and b) with specific modules offered to determine how HEART was used in the pilot. We examined changes in HEART scores at three and six months. Finally, we ran separate growth models for each subscale to examine changes in scores, accounting for partnership changes and counseling module(s) received.ResultsBaseline HEART scores correlated as predicted among subscales and with other measures. Reliabilities for four subscales were 0.75 or higher. Women who disclosed study participation and ring use scored higher on PS and lower on PR. Women experiencing IPV scored lower on PS, and higher on PAC and PR. During the pilot, 82% of women received one and 17% received two or more modules; over half received the IPV module. Women with higher PAC and PR scores were more likely to receive the IPV than the communication or disclosure modules. Over time, the TV, PAC and PR scores decreased, and PS score increased. Receiving the IPV module was associated with a decreased PAC score.ConclusionsThese data offer preliminary evidence for HEART construct and predictive validity and support its further evaluation to guide implementation and monitor the impact of the CHARISMA intervention in a randomized controlled evaluation.
Baseline knowledge and attitudes on COVID-19 among hotels’ staff: A cross-sectional study in Kigali, Rwanda
Authors: Hagabimana Aphrodis , Omolo Jared , El-Khatib Ziad , Rwagasore Edson , Benemariya Noella , Nsekuye Olivier , Kabeja Adeline , Balisanga Helene , Umutoni Angela , Musafili Aimable , Ndagijimana Albert 
Published: December 2021

Background
The World Health Organization declared coronavirus disease 2019 (COVID-19) as a global pandemic on the 11th of March, 2020. Hotels and other public establishments have been associated with higher transmission rates. Sensitisation of staff and strengthening of Infection Prevention and Control (IPC) practices in such settings are important interventions. This study assessed the baseline knowledge and attitudes on COVID-19 among hotels’ representatives in Kigali, Rwanda.

Methods
A cross-sectional study was conducted among hotels’ staff in Kigali in July 2020. A structured questionnaire was self-administered to 104 participants. Baseline knowledge and attitudes were assessed using a number of pre-test questions and mean scores were used to dichotomise the participants’ responses as satisfactory or unsatisfactory.

Results
All of the 104 hotels’ staff completed the self-administered questionnaires. Sixty-seven percent (n = 70) were male and 58% (n = 60) were aged between 30 and 44 years. The satisfactory rate of correct answers was 63%±2.4 (n = 66) on knowledge and 68%±1.7 (n = 71) on attitudes evaluation. Participants with University education were more likely to have satisfactory knowledge (AOR: 2.6, 95% C.I: 1.07–6.58) than those with secondary education or less. The staff working in the front-office (AOR: 0.05; 95% CI 0.01–0.54) and housekeeping (AOR: 0.09; 95% C.I: 0.01–0.87) were less likely to have satisfactory attitudes than those working in the administration.

Conclusions
Hotels’ staff based in the capital of Rwanda have shown satisfactory knowledge and attitudes regarding appropriate IPC practices for preventing the COVID-19 transmission. Educational interventions are needed to improve their knowledge and attitudes for better prevention in this setting.
Risk factors associated with poor pain outcomes following primary knee replacement surgery: Analysis of data from the clinical practice research datalink, hospital episode statistics and patient reported outcomes as part of the STAR research programme
Authors: Mohammad Hasan Raza , Gooberman-Hill Rachael , Delmestri Antonella , Broomfield John , Patel Rita , Huber Joerg , Garriga Cesar , Eccleston Christopher , Pinedo-Villanueva Rafael , Malak Tamer T. , Arden Nigel , Price Andrew , Wylde Vikki , Peters Tim J. , Blom Ashley W. , Judge Andrew 
Published: December 2021

Objective
Identify risk factors for poor pain outcomes six months after primary knee replacement surgery.

Methods
Observational cohort study on patients receiving primary knee replacement from the UK Clinical Practice Research Datalink, Hospital Episode Statistics and Patient Reported Outcomes. A wide range of variables routinely collected in primary and secondary care were identified as potential predictors of worsening or only minor improvement in pain, based on the Oxford Knee Score pain subscale. Results are presented as relative risk ratios and adjusted risk differences (ARD) by fitting a generalized linear model with a binomial error structure and log link function.

Results
Information was available for 4,750 patients from 2009 to 2016, with a mean age of 69, of whom 56.1% were female. 10.4% of patients had poor pain outcomes. The strongest effects were seen for pre-operative factors: mild knee pain symptoms at the time of surgery (ARD 18.2% (95% Confidence Interval 13.6, 22.8), smoking 12.0% (95% CI:7.3, 16.6), living in the most deprived areas 5.6% (95% CI:2.3, 9.0) and obesity class II 6.3% (95% CI:3.0, 9.7). Important risk factors with more moderate effects included a history of previous knee arthroscopy surgery 4.6% (95% CI:2.5, 6.6), and use of opioids 3.4% (95% CI:1.4, 5.3) within three months after surgery. Those patients with worsening pain state change had more complications by 3 months (11.8% among those in a worse pain state vs. 2.7% with the same pain state).

Conclusions
We quantified the relative importance of individual risk factors including mild pre-operative pain, smoking, deprivation, obesity and opioid use in terms of the absolute proportions of patients achieving poor pain outcomes. These findings will support development of interventions to reduce the numbers of patients who have poor pain outcomes.
Young key populations left behind: The necessity for a targeted response in Mozambique
Authors: Boothe Makini A. S. , Semá Baltazar Cynthia , Sathane Isabel , Raymond Henry F. , Fazito Erika , Temmerman Marleen , Luchters Stanley 
Published: December 2021

Introduction
The first exposure to high-risk sexual and drug use behaviors often occurs during the period of youth (15–24 years old). These behaviors increase the risk of HIV infection, especially among young key populations (KP)–men how have sex with men (MSM), female sex workers (FSW), and people who inject drugs (PWID). We describe the characteristics of young KP participants in the first Biobehavioral Surveillance (BBS) surveys conducted in Mozambique and examine their risk behaviors compared to adult KP.

Methods
Respondent-driven sampling (RDS) methodology was used to recruit KP in three major urban areas in Mozambique. RDS-weighted pooled estimates were calculated to estimate the proportion of young KP residing in each survey city. Unweighted pooled estimates of risk behaviors were calculated for each key population group and chi-square analysis assessed differences in proportions between youth (aged less than 24 years old) and older adult KP for each population group.

Results
The majority of MSM and FSW participants were young 80.7% (95% CI: 71.5–89.9%) and 71.9% (95% CI: 71.9–79.5%), respectively, although not among PWID (18.2%, 95% CI: 13.2–23.2%). Young KP were single or never married, had a secondary education level or higher, and low employment rates. They reported lower perception of HIV risk (MSM: 72.3% vs 56.7%, p<0.001, FSW: 45.3% vs 24.4%, p<0.001), lower HIV testing uptake (MSM: 67.5% vs 72.3%, p<0.001; FSW: 63.2% vs 80.6%; p<0.001, PWID: 53.3% vs 31.2%; p = 0.001), greater underage sexual debut (MSM: 9.6% vs 4.8%, p<0.001; FSW: 35.2% vs 22.9%, p<0.001), and greater underage initiation of injection drug use (PWID: 31.9% vs 7.0%, p<0.001). Young KP also had lower HIV prevalence compared to older KP: MSM: 3.3% vs 27.0%, p<0.001; FSW: 17.2% vs 53.7%, p<0.001; and PWID: 6.0% vs 55.0%, p<0.001. There was no significant difference in condom use across the populations.

Conclusion
There is an immediate need for a targeted HIV response for young KP in Mozambique so that they are not left behind. Youth must be engaged in the design and implementation of interventions to ensure that low risk behaviors are sustained as they get older to prevent HIV infection.