bluuebunny/crossref_metadata_2025_split huggingface dataset:
Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria
Authors: Wang Lufeng , Kulaixi Gulimire , Zaiyinati Jiazireya , Aibai Guzhalikezi , Du Danyang , Guo Yanying 
Published: February 2024

Abstract
Background
Hereditary hypophosphatemia rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterised by reduced renal phosphate reabsorption leading to hypophosphataemia, rickets and bone pain. Here, we present a case of HHRH in a Chinese boy.

Case presentation
We report a 11-year-old female proband, who was admitted to our hospital with bilateral genuvarum deformity and short stature. Computed Tomography (CT) showed kidney stones, blood tests showed hypophosphatemia, For a clear diagnosis, we employed high-throughput sequencing technology to screen for variants. Our gene sequencing approach encompassed whole exome sequencing, detection of exon and intron junction regions, and examination of a 20 bp region of adjacent introns. Flanking sequences are defined as ±50 bp upstream and downstream of the 5′ and 3′ ends of the coding region.The raw sequence data were compared to the known gene sequence data in publicly available sequence data bases using Burrows-Wheeler Aligner software (BWA, 0.7.12-r1039), and the pathogenic variant sites were annotated using Annovar. Subsequently, the suspected pathogenic variants were classified according to ACMG’s gene variation classification system. Simultaneously, unreported or clinically ambiguous pathogenic variants were predicted and annotated based on population databases. Any suspected pathogenic variants identified through this analysis were then validated using Sanger sequencing technology. At last, the proband and her affected sister carried pathogenic homozygous variant in the geneSLC34A3(exon 13, c.1402C > T; p.R468W). Their parents were both heterozygous carriers of the variant. Genetic testing revealed that the patient has anLRP5(exon 18, c.3917C > T; p.A1306V) variant of Uncertain significance, which is a rare homozygous variant.

Conclusion
This case report aims to raise awareness of the presenting characteristics of HHRH. The paper describes a unique case involving variants in both theSLC34A3andLRP5genes, which are inherited in an autosomal recessive manner. This combination of gene variants has not been previously reported in the literature. It is uncertain whether the presence of these two mutated genes in the same individual will result in more severe clinical symptoms. This report shows that an accurate diagnosis is critical, and with early diagnosis and correct treatment, patients will have a better prognosis.
Orthopedic manifestations in children with Prader-Willi syndrome
Authors: Miao Miao , Zhao Guo-Qiang , Zhou Qiong , Chao Yun-Qi , Zou Chao-Chun 
Published: February 2024

Abstract
Background
Prader-Willi syndrome (PWS) is a rare genetic disease often associated with bone problems, mainly scoliosis and hip dysplasia (HD). This study aimed to analyze the clinical characteristics of orthopedic deformities in patients with PWS.

Methods
A retrospective study was conducted on 175 patients up to March 2023. The Cobb angle(CA) of the spine, the alpha angle of the hip joint, and the acetabular index (AI) were measured. This study aimed to evaluate the relationship between demographic parameters and bone deformities.

Results
Scoliosis was found in 66 patients (43.7%), including 52 (78.8%) with mild scoliosis, 10 (15.2%) with moderate scoliosis, and 4 (6.1%) with severe scoliosis. Only seven patients received orthopedic treatment (10.6%). The median age of scoliosis was 4.5 years old, and the prevalence of scoliosis increased rapidly at the age of 5 years and adolescence. The mean CA in this study increased gradually with age. HD was found in 47 patients (38.2%), and 6 patients received orthopedic treatment (12.7%). The median age at HD was 1.8 years old. The mean AI of the study population decreased with age. The prevalence of HD treated with recombinant human growth hormone (rhGH) was low. No significant differences were observed in sex, genotype, body mass index (BMI), obesity rate, or onset of scoliosis and HD.

Conclusion
The prevalence of scoliosis and HD was higher in patients with PWS. The onset age and developmental trends of the different skeletal malformations were different. Early diagnosis and treatment are important for the prognosis and treatment of orthopedic diseases in patients with PWS.
CLEAR – clozapine in early psychosis: study protocol for a multi-centre, randomised controlled trial of clozapine vs other antipsychotics for young people with treatment resistant schizophrenia in real world settings
Authors: Casetta C. , Santosh P. , Bayley R. , Bisson J. , Byford S. , Dixon C. , Drake R. J. , Elvins R. , Emsley R. , Fung N. , Hayes D. , Howes O. , James A. , James K. , Jones R. , Killaspy H. , Lennox B. , Marchant L. , McGuire P. , Oloyede E. , Rogdaki M. , Upthegrove R. , Walters J. , Egerton A. , MacCabe J. H. 
Published: February 2024

Abstract
Background
Clozapine is an antipsychotic drug with unique efficacy, and it is the only recommended treatment for treatment-resistant schizophrenia (TRS: failure to respond to at least two different antipsychotics). However, clozapine is also associated with a range of adverse effects which restrict its use, including blood dyscrasias, for which haematological monitoring is required. As treatment resistance is recognised earlier in the illness, the question of whether clozapine should be prescribed in children and young people is increasingly important. However, most research to date has been in older, chronic patients, and evidence regarding the efficacy and safety of clozapine in people under age 25 is lacking. The CLEAR (CLozapine in EARly psychosis) trial will assess whether clozapine is more effective than treatment as usual (TAU), at the level of clinical symptoms, patient rated outcomes, quality of life and cost-effectiveness in people below 25 years of age. Additionally, a nested biomarker study will investigate the mechanisms of action of clozapine compared to TAU.

Methods and design
This is the protocol of a multi-centre, open label, blind-rated, randomised controlled effectiveness trial of clozapine vs TAU (any other oral antipsychotic monotherapy licenced in the British National Formulary) for 12 weeks in 260 children and young people with TRS (12–24 years old).

Aim and objectives
The primary outcome is the change in blind-rated Positive and Negative Syndrome Scale scores at 12 weeks from baseline. Secondary outcomes include blind-rated Clinical Global Impression, patient-rated outcomes, quality of life, adverse effects, and treatment adherence. Patients will be followed up for 12 months and will be invited to give consent for longer term follow-up using clinical records and potential re-contact for further research. For mechanism of action, change in brain magnetic resonance imaging (MRI) biomarkers and peripheral inflammatory markers will be measured over 12 weeks.

Discussion
The CLEAR trial will contribute knowledge on clozapine effectiveness, safety and cost-effectiveness compared to standard antipsychotics in young people with TRS, and the results may guide future clinical treatment recommendation for early psychosis.

Trial registration
ISRCTN Number: 37176025, IRAS Number: 1004947.

Trial status
In set-up. Protocol version 4.0 01/08/23. Current up to date protocol available here: https://fundingawards.nihr.ac.uk/award/NIHR131175#/.
Association between social support and the severity of positive symptoms in rural community-dwelling patients with schizophrenia during the COVID-19 pandemic
Authors: Liu Yudan , Liu Hongying , Chen Siyu , Ren Jidong , Tian Xiaobing 
Published: February 2024

Abstract
Background
This study examined the association between social support and the severity of positive symptoms in rural community-dwelling schizophrenia patients during the COVID-19 pandemic.

Method
The cross-sectional study included 665 rural community-dwelling schizophrenia patients investigated during the COVID-19 pandemic. Social support was measured using the Social Support Rating Scale, and positive symptoms were assessed using the Positive Scale extracted from the Positive and Negative Syndrome Scale. Multiple linear regression was adopted to examine the association of social support with positive symptoms.

Result
The scores for total social support, subjective support, objective support and the use of social support were 28.3 ± 5.9, 16.4 ± 5.2, 6.5 ± 1.4 and 5.4 ± 2.8, respectively. Total social support (β = −0.08, 95%CI: −0.13 to −0.02, P < 0.01) and subjective social support (β = −0.10, 95%CI: −0.16 to −0.04, P < 0.01) were significantly and negatively associated with the Positive Scale score after adjustment for confounders. Objective social support (β = 0.11, 95%CI: −0.10 to 0.32, P = 0.31) and the use of social support (β = −0.03, 95%CI: −0.14 to 0.07, P = 0.53) were not significantly associated with the Positive Scale score.

Conclusion
The study confirmed the importance of social support, especially subjective support, provided to rural community-dwelling schizophrenia patients during the COVID-19 pandemic. This support should be addressed and strengthened for such patients in emergent events.
A comparative national-level analysis of government food system resilience activities across four developed countries at varying stages of planning
Authors: Lloyd Jane , Moore E. R. H. , Dowell Lyndsey , Neff Roni 
Published: February 2024

Abstract
Background
The COVID-19 pandemic, extreme weather events, and the Russian invasion of Ukraine have highlighted global food system vulnerabilities and a lack of preparedness and prospective planning for increasingly complex disruptions. This has spurred an interest in food system resilience. Despite the elevated interest in food system resilience, there is a lack of comparative analyses of national-level food system resilience efforts. An improved understanding of the food system resilience landscape can support and inform future policies, programs, and planning.

Methods
We conducted a cross-country comparison of national-level food system resilience activities from Australia, Aotearoa New Zealand, Sweden, and the United States. We developed upon and adapted the resilience framework proposed by Harris and Spiegel to compare actions derived from thirteen national food system resilience documents. We coded the documents based on the actions taken by the governments including: the food system resilience attributes utilized, the part of the food supply chain, the specific shocks or stressors, the implementation level, the temporal focus of action, and the expected impact on food security. We analyzed and compared countries’ coded categories and subcategories, and category combinations.

Results
The results showed that these countries are addressing some of the same issues, are using multi-pronged policy actions to address food system resilience issues, and are focused on both retrospective reviews and prospective models of disruptive events to inform their decisions. Some work has been done towards preparing for climate change and other natural disasters, and less preparing has been done for other shocks or stressors.

Conclusions
This paper develops and applies a framework rooted in literature to understand the content of national-level food system resilience documents. The analysis identified potential gaps, concentrations, and themes in national food systems resilience. The framework can be applied to augment existing policy, create new policy, as well as to supplement and complement other existing frameworks.
Socioeconomic disparities in Papanicolaou test utilization in Western Iran
Authors: Safari-Faramani Bahare , Safari-Faramani Roya , Najafi Farid , Zavareh Davoud Khorasani , Karyani Ali Kazemi , Darbandi Mitra 
Published: February 2024

Abstract
Background
Cervical cancer remains the fourth most frequently diagnosed cancer among women, and its impact is particularly significant in women residing in less developed countries. This study aims to assess socioeconomic inequality in using Papanicolaou tests, commonly known as Pap tests, which are crucial for detecting cervical cancer. The research also seeks to decompose this inequality, identifying its contributing factors. This investigation is conducted within a sizable population-based study focused on the Kurdish population, with an additional examination of potential variations between urban and rural areas.

Method
The study utilized baseline data from the Ravansar Non-Communicable Disease Cohort Study (RaNCD), involving 3,074 ever-married women aged 35–65. Asset data was employed to determine socioeconomic status (SES), and Principal Component Analysis was applied. The uptake of Papanicolaou tests was assessed for inequality using the Concentration Index (Cn). Additionally, decomposition analysis was conducted to identify and understand the factors contributing to socioeconomic inequality.

Results
The study found that overall, 86% of women reported having undergone cervical cancer screening at least once in their lifetime. The Concentration Index (Cn) for the total population was 0.21 (p < 0.0001), indicating a higher concentration of Papanicolaou test uptake among wealthier groups. In urban areas, the Cn was 0.34 (p < 0.0001), reflecting a significant concentration among the rich. However, in rural areas, the Cn was -0.10 (p = 0.3006), suggesting no significant socioeconomic inequality. Factors such as socioeconomic status (SES), education, and age contributed to reducing inequality, explaining 62.7%, 36.0%, and 1.7% of the observed inequality, respectively. Interestingly, place of residence had a negative influence on inequality.

Conclusion
The uptake of Papanicolaou tests varies across different socioeconomic status levels, with a higher concentration among wealthier groups. The results enable health policymakers and researchers to tailor health intervention toward increasing public awareness, especially among women with lower levels of education women in economically deprived groups.
The role of vaccine status homophily in the COVID-19 pandemic: a cross-sectional survey with modelling
Authors: Are Elisha B. , Card Kiffer G. , Colijn Caroline 
Published: February 2024

Abstract
Background
Vaccine homophily describes non-heterogeneous vaccine uptake within contact networks. This study was performed to determine observable patterns of vaccine homophily, as well as the impact of vaccine homophily on disease transmission within and between vaccination groups under conditions of high and low vaccine efficacy.

Methods
Residents of British Columbia, Canada, aged ≥ 16 years, were recruited via online advertisements between February and March 2022, and provided information about vaccination status, perceived vaccination status of household and non-household contacts, compliance with COVID-19 prevention guidelines, and history of COVID-19. A deterministic mathematical model was used to assess transmission dynamics between vaccine status groups under conditions of high and low vaccine efficacy.

Results
Vaccine homophily was observed among those with 0, 2, or 3 doses of the vaccine. Greater homophily was observed among those who had more doses of the vaccine (p < 0.0001). Those with fewer vaccine doses had larger contact networks (p < 0.0001), were more likely to report prior COVID-19 (p < 0.0001), and reported lower compliance with COVID-19 prevention guidelines (p < 0.0001). Mathematical modelling showed that vaccine homophily plays a considerable role in epidemic growth under conditions of high and low vaccine efficacy. Furthermore, vaccine homophily contributes to a high force of infection among unvaccinated individuals under conditions of high vaccine efficacy, as well as to an elevated force of infection from unvaccinated to suboptimally vaccinated individuals under conditions of low vaccine efficacy.

Interpretation
The uneven uptake of COVID-19 vaccines and the nature of the contact network in the population play important roles in shaping COVID-19 transmission dynamics.
The first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report
Authors: Matsumoto Kazuya , Matsumoto Yoshinori , Nawachi Shoichi , Asano Yosuke , Katayama Yu , Miyawaki Yoshia , Katsuyama Takayuki , Katsuyama Eri , Nasu Yoshihisa , Sada Ken-Ei , Wada Jun 
Published: February 2024

Abstract/Summary
Background
Nail-patella syndrome (NPS) is a rare autosomal dominant disorder that is characterized by dysplasia of the nails, hypoplasia and/or dislocation of the patella and the presence of iliac horns. Using the CARE guidelines, we present the first reported case of NPS that was newly diagnosed at the onset of rheumatoid arthritis (RA).

Case presentation
A 74-year-old man was admitted to our hospital due to an 8-month history of arthralgia in bilateral wrists, elbows and fingers. He had a past history of glaucoma and left patella dislocation that had been operatively recentered at the age of 15 years. Laboratory data showed elevated levels of serum C-reactive protein and rheumatoid factor and an elevated titer of anti-SS-A antibodies, while estimated glomerular filtration rate (eGFR), titers of other antibodies and the results of a urinary test were normal. An X-ray showed deformity of bilateral radial heads and the right elbow, and magnetic resonance imaging (MRI) of his hands showed synovitis and erosion in the multiple swollen joints of the wrists and fingers. In addition to these typical features of RA, he had bilateral thumb nail dysplasia with mild hypoplasia of bilateral patellae and iliac horns as shown by the X-ray. He was diagnosed as having autosomal dominant disorder NPS co-existing with RA and he was treated with methotrexate in combination with an oral Janus kinase (JAK) inhibitor, leading to induction of remission.

Conclusions
We have presented a rare case of NPS that was newly diagnosed at the onset of RA. Clinical and radiographic findings of NPS are highlighted in this case report for diagnosing NPS on the basis of typical manifestations.
Comparisons of fentanyl and sufentanil on recovery time after inguinal hernia repair in children: a randomized clinical trial
Authors: Chen Wen , Guoyang Hongyun , Yu Hui , Xu Yutong 
Published: February 2024

Abstract
Background
Inguinal hernia repair is a common pediatric procedure. We studied postoperative recovery times in children undergoing laparoscopic inguinal hernia repair with anesthesia induced by fentanyl versus sufentanil.

Methods
We performed a pilot randomized clinical trial between February and December 2022. Eligible children were assigned into two age groups, 2–6 and 6–12 years old groups. Then, children in each age group were randomly assigned into either the fentanyl (2 µg/kg) or sufentanil (0.2 µg/kg) group for anesthesia induction. Baseline characteristics were collected. The primary outcome was the postoperative recovery time, which was recorded as the time period from extubation to a Steward recovery score reaching 6. Secondary outcomes included surgical duration, anesthetic duration, intubation duration, and intraoperative hemorrhage.

Results
There were 300 children, with 75 children in each group. In the 2–6 years old group, children who received fentanyl had statistically significantly shorter postoperative recovery times than children who received sufentanil (0.9 ± 0.4 versus 1.5 ± 0.3 h, P < 0.001). However, in the 6–12 years old group, children who received fentanyl had statistically significantly longer postoperative recovery times than children who received sufentanil (1.2 ± 0.4 versus 0.8 ± 0.4 h, P < 0.001). Baseline characteristics and secondary outcomes were comparable between two groups.

Conclusions
Anesthesia induction with fentanyl or sufentanil resulted in different postoperative recovery times after laparoscopic inguinal hernia repair in children in different age groups. More studies are required to determine the appropriate induction anesthetic in children of different ages.

Trial registration
The study protocol was retrospectively registered online at the Chinese Clinical Trial Registry (registration number ChiCTR2300072177, retrospectively registered on 06/06/2023).
A retrospective comparison of Sun’s tip-flexible semirigid ureterorenoscopy, super-mini percutaneous nephrolithotomy and flexible ureteroscopy applied to treat upper urinary tract calculi
Authors: Huang Xinkai , Zhong Liang , Huang Zhifeng , Lai Haibiao 
Published: February 2024

Abstract
Background
This retrospective study was conducted to compare the safety and efficacy of Sun’s tip-flexible semirigid ureterorenoscopy (tf-URS), super-mini percutaneous nephrolithotomy (SMP) and flexible ureteroscopy (FURS) in treating upper urinary tract calculi, including upper ureteral or renal calculi.

Methods
We included patients with upper ureteral calculi or renal calculi 1.0–2.0 cm in size, who underwent tf-URS, SMP or FURS, respectively. The indicators reflecting safety and efficacy were compared among the three surgical techniques.

Results
SMP presented with higher single stone crushing success rate, but longer operation time and postoperative hospital stay, more blood loss, and higher postoperative pain score compared with FURS and tf-URS (P < 0.05). The hospitalization cost of tf-URS group was lower than that of SMP and FURS groups (P < 0.05). The incidence of postoperative fever in tf-URS group was significantly higher than that in SMP group (P < 0.05). No significant difference was found in mucosal injury, perirenal hematoma, and stone-free rate at 3 months after surgery (P > 0.05).

Conclusions
tf-URS and FURS have the advantages in minimal invasion, hospitalization cost, patient comfort, and hospital stay while SMP has higher stone-free rate. These three surgical techniques are safe, reliable and complementary, which should be selected according to the actual situation.