bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic analysis of Poirier Bienvenu neurodevelopmental syndrome associated with CSNK2B variation
Authors: Yang Liu , Mei Daoqi , Liu Yanping , Gao Li 
Published: November 2024

Abstract

CSNK2B deficiency underlies the pathogenesis of Poirier-Bienvenu neurodevelopmental syndrome (POBINDS). In this study, we present four cases of pediatric seizures caused by de novo variants in CSNK2B, with the aim to reinforce the clinical and variant data pertaining to early genetic factors associated with epilepsy. Methods: Trio whole exome sequencing were used to detect variations in the proband and her family members, and bioinformatics annotation was performed for the variation. Sanger sequencing and CSNK2B cDNA sequencing were employed to ascertain the carrier status of additional family members and evaluate the potential impact of variants on splicing. Results: All four children presented with epilepsy as the initial manifestation, accompanied by mild-moderate mental retardation, language and motor developmental delay. Cases 1, 3 and 4 exhibited full-scale tonic-clonic seizures, while case 2 displayed myoclonic and typical absence seizures. Furthermore, case 2 demonstrated delayed growth and development compared to age-matched peers. No abnormality was detected in the head magnetic resonance imaging (MRI). Genetic analysis revealed novel heterozygous variations in the CSNK2B gene in all four children, including c.175 + 1G > A, c.73-2A > G, c.291 + 1G > A and c.481delA. In case 2, reverse transcription analysis of CSNK2B mRNA revealed the retention of the 3' end sequence of Intron 2 and deletion of the 5' end sequence of Exon 3. In treatment, four children received a combination of one to three types of antiepileptic drugs and rehabilitation training individually. Case 1 continued to experience seizures to varying degrees, while cases 2–4 demonstrated effective seizure control. Overall motor and intellectual development improved in all four children, however, there was slow recovery in language function. Conclusion: This study elucidates the molecular etiology of epilepsy in four patients with POBINDS and expands the mutational spectrum of pathogenic variants in the CSNK2B, highlighting their impact on splicing. The highly genetic heterogeneous phenotype of POBINDS relies on the detection of pathogenic variants in CSNK2B. Conventional antiepileptic drugs effectively control seizures, while rehabilitation treatment can significantly improve intelligence and motor function to varying degrees; however, language recovery tends to be relatively slow.
Proximal humerus head split fractures in young adults- Outcomes of internal fixation and whether we can afford to miss them
Authors: PRASHANTH TARUN , MUKHERJEE KAUSTAV , KUMAR MOHAN , RAJA DORAI KUMAR , RAJA SUJITH KUMAR 
Published: November 2024

Abstract

Purpose
Humerus head split fractures are rare subgroup of proximal humerus fractures and are often challenging to treat. We aim to bring forward the difficulties in identifying the isolated head split fractures, modes of internal fixations, possible complications of missing the head split component in a complex proximal humerus fracture fixation and the outcomes on the functionality of the shoulder joint.
Materials and Methods
A retrospective case-control study, 2010 to 2020, with all fractures treated by internal fixation, was carried out at our institution. Fixation was carried out on basis of surgeon’s preference- a sub-group with cancellous screws alone, while some patients were fixed with plate-augmented-screw construct. Control group included cases where head splits were not addressed appropriately. Functional and radiological analysis were done at regular follow-up visits, over the next 12 months.
Results
A total of 24 patients were included in the study- 9 fixed by screws alone and 15 by plate-augmented-screw construct. The mean age of the study group was 34.5 years with 85% male patients. Bony union was achieved in all cases with average time to union being 29 weeks. Study group recorded mean Oxford shoulder score 49, contrary to the control group with mean score 22. Out of 10 patients in the control group- 3 cases of avascular necrosis and 2 cases of nonunion were recorded.
Conclusion
Simple head splits are easily missed on standard shoulder radiographs and needs additional imaging/views for diagnosis. Schiebel type 1 and 2 fractures recorded excellent functional outcomes when addressed appropriately.
Use of PULSAR (Personalized Ultra-fractionated Stereotactic Adaptive Radiotherapy) as consolidation with immune checkpoint inhibition in the treatment of pediatric metastatic melanoma
Authors: McCarty Kyra L. , Watt Tanya , Dan Tu D. , Timmerman Robert D. , Kumar Kiran A. 
Published: November 2024

Abstract

We present a case of extensive and bulky pediatric metastatic melanoma originating in the head and neck which markedly responded to combination therapy with anti-programmed cell death (PD-1) inhibition and consolidative personalized ultra-fractionated stereotactic adaptive radiotherapy (PULSAR). After surgical debulking with neck dissection, the patient was initially treated with anti-PD-1 and anti-cytotoxic T-lymphocyte associated protein 4 (CTLA-4) dual checkpoint blockade immunotherapy, but quickly had disease progression. He was transitioned to a different anti-PD-1 immunotherapy in combination with B rapidly accelerated fibrosarcoma (BRAF) and methyl ethyl ketone (MEK) tyrosine kinase inhibitors in conjunction with consolidative local therapy using PULSAR. This combination therapy achieved tumor response and progression-free status for one year followed by further disease progression at a separate site in the mediastinum. Due to otherwise good disease control, single agent anti-PD-1 immunotherapy was continued, and salvage PULSAR was administered to the progressive site, again resulting in tumor response and progression-free status for 6 months. None of the bulkier sites of gross disease had local progression after combination therapy. This case suggests that the synergistic effect of PULSAR and anti-PD-1 immunotherapy is efficacious for relapsed or refractory metastatic melanoma in pediatric patients. Clinical trial number: not applicable.
Trends in antipsychotic treatment of children and adolescents in Israel from post-mental health reform to post-COVID19 pandemic (2015-2023)
Authors: Nega Rachel , Walfisch Ron , Taler Michal , Efron Martin , Bar Nurit El , Gavze Revital Perlov , Lev-Shalem Liat , Bodenheimer Gilad , Bilu Yonatan , Gothelf Doron 
Published: November 2024

Abstract

This study investigates the patterns of antipsychotic drug dispensations among children and adolescents from 2015 to 2023, with a focus on the impact of introducing national health reform (2015) and the COVID-19 pandemic. Data from Maccabi Healthcare Services, encompassing 1,105,439 individuals aged 6 to 18 years was analyzed using a retrospective cohort study. We investigated the incidence rates of antipsychotic prescriptions by age, sex, socioeconomic status, and geographical region. During the study period, there was a 15% overall increase in antipsychotics prescriptions. Higher rates of prescription were noted among males aged 6-11 and females aged 14-18. Significant increases in prescriptions were observed following the mental health reform and the COVID-19 pandemic. Low socioeconomic status and peripheral regions exhibited higher and increasing prescription rates. Seasonal patterns revealed peaks in the fourth quarter of each year. The study highlights an overall increase in antipsychotic prescriptions, influenced by policy changes and the pandemic. Inequality in prescription rates by socioeconomic status and geographical location underscore the need for targeted mental health interventions. The findings also indicate the enduring effects of the COVID-19 pandemic on youth mental health and the utilization of antipsychotic medications.
Predictors of prolonged hospital stay of pelvic ring and acetabular fractures - A retrospective analysis in a 10 year period of a Level 1 Trauma center
Authors: Weuster Matthias , Cuntz Marlen , Lippross Sebastian , Fitschen-Oestern Stefanie , Seekamp Andreas , Klüter Tim 
Published: November 2024

Abstract

BACKGROUND
Pelvic ring and acetabular fractures are among the most complicated and severe injury patterns in orthopaedic trauma surgery. Inpatient treatment is not only costly but also very time-consuming. The aim of this study is to identify predictors leading to a prolonged length of hospital stay.
METHODS
This study is a retrospective review of data of 211 patients admitted to a Level-1 trauma centre. In this cohort a surgical treatment of pelvic ring and acetabular fractures between 2010 and 2020 was performed. Preclinical data and clinical parameters were analysed.
RESULTS
Injury severity was the most important factor for a prolonged stay. High-energy trauma resulted in significantly longer hospital stays. Polytrauma had a significant effect. Low haemoglobin levels measured on admission and an increased shock index, as indicators of the severe trauma, could be identified as good predictors of a longer intensive care period and a long total length of stay. Except for the number of surgical procedures to treat the pelvic fracture, surgical approach and technique showed no predictive value. Age and gender do not play a role. Increased patient age does not result in a longer hospital stay or longer intensive care times.
CONCLUSION
Pelvic fractures demonstrate a prolonged hospital stay. It depends on the severity of the injury. There are good predictors of a long length of stay at admission. These include the presence of polytrauma, the complexity of the fractures, haemoglobin levels, and the shock index.
Obturator Internus Muscle Entrapment in Posterior Wall Acetabular Fractures: A Rare Intraoperative Finding
Authors: Vaderi Babu Mohammed Rafi , Sharma Vijay , Gar Siva Srivastava , Farooque Kamran 
Published: November 2024

Abstract

Introduction: We report two cases of the rare presentation of obturator internus muscle entrapment in posterior wall fractures of the acetabulum. While piriformis muscle entrapment has been previously reported, there are no known cases of obturator internus entrapment associated with posterior wall fractures of the acetabulum. Case Presentation: Case 1: A 38-year-old male presented with right hip and knee pain following a road traffic accident. He was diagnosed with a posterior wall and posterior column fracture, accompanied by posterior dislocation of the knee. During surgery, the obturator internus muscle was found interposed between the fracture site and the displaced posterior wall fragment. Case 2: A 43-year-old male sustained blunt abdominal trauma and a Pipkin type 4 (femoral head fracture with posterior wall fracture) injury following a road traffic accident. After stabilization of his abdominal injury with laparoscopic mesenteric repair, the patient underwent open reduction and internal fixation of the posterior wall fracture, along with removal of intra-articular bony fragments from an infra-foveal femoral head fracture. Similarly, during the procedure, the obturator internus muscle was found interposed between the fracture site and the displaced posterior wall fragment. Both patients followed a standard post-operative rehabilitation protocol and recovery was uneventful. Conclusion: These cases highlight the importance of recognizing muscle entrapment as a potential cause of difficulty in reducing posterior acetabular wall fractures. Proper identification and management of such interpositions are crucial to ensure successful fracture reduction and fixation.
Efficacy of FAPI-PET as a non-invasive evaluation method of liver fibrosis
Authors: Mori Yuriko , Tamburini Katharina , Novruzov Emil , Schmitt Dominik , Mavriopoulou Eleni , Loosen Sven H. , Roderburg Christoph , Watabe Tadashi , Kratochwil Clemens , Röhrich Manuel , Alavi Abass , Haberkorn Uwe , Giesel Frederik L. 
Published: November 2024

Abstract

Liver fibrosis is a chronic fibrosing hepatic disorder following recurrent injury, characterized by the excessive accumulation of extracellular matrix. Early detection has great clinical impact because 80–90% of hepatocellular carcinomas are known to develop in fibrotic or cirrhotic (end-stage fibrotic) livers. PET imaging with FAP ligands exhibited highly promising results in recent years to visualize fibrosis in various organs due to the crucial role of activated fibroblasts in fibrosing processes. However, still little is known about the efficacy of FAP imaging in liver fibrosis. Thus, we sought to investigate the potential of FAPI-PET in a cohort of oncological and non-oncological patients. Methods: 360 patients who underwent FAPI-PET/CT at the University Hospital of Heidelberg between July 2017 and October 2020 were retrospectively analyzed. The tracer uptake of the liver was analyzed and correlated with radiological and clinical parameters. Results: We observed a strong negative correlation between the hepatic FAPI uptake and CT density (r=-0.264, P < 0.001***). A positive correlation was observed between hepatic FAPI uptake and the aspartate aminotransferase (AST)-to-platelet ratio index (APRI) (r = 0.178, P = 0.006**), an established surrogate for liver fibrosis. The liver SUV (standardized uptake value) mean and SUVmax of FAPI showed significant differences between groups of patients with low (< 0.5), middle (0.5-1.0) and high (> 1.5) APRI (P = 0.002* and P < 0.001***). Conclusion: These preliminary observational results suggest that FAPI-PET may be a viable non-invasive method to asses liver fibrosis.
Evaluating the Effectiveness of Probiotics in Reducing Gavage Reflux in Intensive Care Unit Patients
Authors: Farzanegan Behrooz , Torbat Bahar , Alipour Haleh , Dizaj Mehdi kazempour , Shafigh Navid 
Published: November 2024

Abstract

Introduction: This study is a randomized, double-blind, placebo-controlled clinical trial aimed at investigating the effectiveness of probiotics in reducing gavage reflux in Intensive Care Unit (ICU) patients. The study population includes adult ICU patients requiring enteral nutrition. Patients are randomly divided into two groups: intervention (receiving probiotic) and control (receiving placebo). The primary outcomes are the incidence and severity of gavage reflux, vomiting, and diarrhea. Secondary outcomes include the duration of mechanical ventilation and ICU stay. Patients' demographic and clinical information is recorded, and data are analyzed using appropriate statistical tests. It is expected that probiotics will significantly reduce gavage reflux and improve other outcomes in ICU patients. The results of this study could be useful in developing clinical guidelines and improving nutritional care for this group of patients. Methodology: This is a randomized, double-blind, placebo-controlled clinical trial conducted in the Intensive Care Unit (ICU) of Labbafinejad Hospital. Inclusion criteria include: Adult patients (age over 18 years) admitted to the ICU requiring enteral nutrition. Exclusion criteria are: Known allergy to probiotics, inflammatory bowel disorders, and antibiotic use in the past 2 weeks. Eligible patients are randomly assigned to intervention and control groups using a random number table. The intervention group receives a daily probiotic capsule containing 10 billion live colonies of Lactobacillus rhamnosus GG along with enteral nutrition. The control group receives a placebo capsule similar to the probiotic. The primary outcome is the incidence and severity of gavage reflux, which is graded based on the volume of daily reflux contents. Secondary outcomes include the incidence of vomiting, diarrhea, duration of mechanical ventilation, and length of ICU stay. Demographic, clinical, and outcome data are collected by researchers blinded to the treatment group. Data will be analyzed using SPSS software. Independent t-test will be used for comparing quantitative variables, and chi-square test for qualitative variables. Conclusion:The results of this clinical trial showed that daily administration of Lactobacillus rhamnosus GG probiotic to ICU patients receiving enteral nutrition significantly reduced the incidence and severity of gavage reflux compared to the placebo group. Additionally, the probiotic group experienced lower rates of vomiting and diarrhea.
Integration of Inferior Vena Cava Measurements into Routine Functional Echocardiography in Preterm Neonates: Are We There Yet?
Authors: Unal Irem , Imamoglu Ebru Yalin , Ozumut Sibel Hatice , Ovali Fahri 
Published: November 2024

Abstract

Objective To evaluate baseline inferior vena cava measurements and investigate the clinical factors that may affect inferior vena cava diameters and hemodynamic changes during the first week of life in preterm neonates.Study Design: This prospective observational study included a consecutive cohort of 30 preterm neonates born at < 34 weeks gestation. Echocardiographic parameters and inferior vena cava diameters were measured on the postnatal 1st, 3rd, and 7th days, and inferior vena cava indices were calculated. We then compared echocardiographic and inferior vena cava parameters in different types of respiratory support.Result Baseline data of the inferior vena cava parameters were reported. The median values of the inferior vena cava collapsibility, distensibility, and respiratory variation indices did not change at different respiratory levels.Conclusion Inferior vena cava collapsibility, distensibility, and respiratory variation indices remained stable with varying levels of respiratory support. These indices might be integrated into routine hemodynamic assessment to determine preload and intravascular volume status.
TM9SF1 inhibits Colorectal Cancer Metastasis by Targeting Vimentin for Tollip-Mediated Selective Autophagic Degradation
Authors: Liu Zhibo , Wang Huifen , Hu Jia , Wang Di , Cai Yudie , Zhu Weiwei , Deng Rui , Zhang Yize , Dong Zihui , Yang Zhe , Xiao Juan , Li Ang 
Published: November 2024

Abstract

Selective autophagy is a finely regulated degradation pathway that can either promote or suppress cancer progression depending on its specific target cargoes. In this study, we report that transmembrane 9 superfamily member 1 (TM9SF1) suppresses colorectal cancer (CRC) metastasis via selective autophagic degradation of Vimentin. Tm9sf1 knockout significantly increases tumor numbers and size, as well as enhances tumor invasion in CRC model. In vitro and in vivo phenotypical analyses reveal that TM9SF1 functions as a metastasis suppressor in CRC. Mechanistically, TM9SF1 facilitates the K63-linked ubiquitination of Vimentin by the E3 ligase tripartite motif containing 21 (TRIM21). The K63-linked ubiquitination of Vimentin serves as a recognition signal for autophagic degradation mediated by autophagic cargo receptor toll interacting protein (Tollip). Consequently, the downregulation of Vimentin results in a decreased number of F-actin-rich stress fibers and filopodium-like protrusions (FLPs), ultimately inhibiting CRC metastasis. Moreover, TM9SF1 is downregulated in CRC patients with advanced stage compared to those with early stage and associated with favorable prognosis. Overall, our findings identify a novel TM9SF1-TRIM21-Tollip-Vimentin pathway involved in CRC metastasis, which may provide promising therapeutic targets for the treatment of metastatic CRC.
Effects of Different Intervention Methods on Improving the Sense of Life Meaning in Cancer Patients: a Network Meta-analysis
Authors: Zhong Xiaoying , Lu Weinan , Yuan Ping , Zhang Yiying , Fang Ting , Wang Meng , Wang Li , Li Peipei , Zhang Limei 
Published: November 2024

Abstract

Objective To evaluate the impact of different intervention programs on the sense of meaning in life for cancer patients using a network meta-analysis based on frequentist methods.
Methods We conducted a computer search of databases including Web of Science, EMBASE, PubMed, CNKI, China Biomedical Database, Wanfang, and Weipu for interventional studies that could enhance the sense of meaning in life for cancer patients, with related indicators as outcomes. Statistical analysis was performed using Stata 16.0 software. This study has been approved by the Evidence-Based Nursing Center of Fudan University, registration number: ES20220915. Results A total of 20 studies were included, with 2,355 subjects and 13 types of interventions. The network meta-analysis showed that compared to conventional nursing, mindfulness therapy, health education, life review therapy, humanistic care-based nursing programs, and meaning therapy could all enhance the sense of meaning in life for cancer patients. The ranking probability indicated that mindfulness therapy was the most effective intervention, followed by health education and life review therapy.
Conclusion Current evidence suggests that mindfulness therapy is the best intervention method for enhancing the sense of meaning in life for cancer patients. Therefore, healthcare providers should encourage and guide patients to engage in mindfulness training to improve their sense of meaning in life, enhance their physical and mental state, improve treatment outcomes and quality of life, and face life positively.
Central precocious puberty children with overweight are associated with changes in gut microbiota composition and function
Authors: Li Xiuyun , Wu Hui , Wang Xing , Han Ji , Huang Congfu 
Published: November 2024

Abstract

Background: Multiple studies have found that the gut microbiota(GM) of CPP children is imbalanced, and ICPP children with obesity have unique GM characteristics. However, clinical investigations have found that about 30% of ICPP children are overweight, and very few children meet the obesity criteria. Currently, there are no relevant reports on the GM of ICPP children with overweight.
Objective: This study aims to explore the changes of GM in CPP children and analyze their association with overweight.
Method: We recruited 27 children with ICPP and 23 healthy control children and tested their GM composition and function. According to BMI, ICPP children were divided into the overweight and normal groups, and the composition and function of the GM in the two groups were further compared.
Result: 1. The GM α - diversity in the ICPP group was significantly higher than that in the control group; Principal Component Analysis (PCA) showed significant separation between the two groups of samples,; Compared with the control group, the abundance of bacteria that produce short chain fatty acids and degrade carbohydrates in the gut of the ICPP group was significantly increased, such as Roseburia, Ruminococcus, Lachnospiracea_certae_redis, Prevotella, Parabacterioids, etc. GM of the ICPP group showed downregulation of various functions, especially carbohydrate metabolism. 2. There were no significant differences in GM α - diversity, PCA, and phylum levels between the overweight and normal groups; Compared with overweight group, the abundance of Blautia increased in the normal group, while the abundance of Gemmigerand Parasottella decreased,and metabolits of cofactors and vitamins in GM function were downregulated.
Conclusion: There are significant changes in the composition and function of GM in children with ICPP. Compared with ICPP children of normal weight, ICPP children with combined overweight have unique GM composition and function, which are related to weight.