bluuebunny/crossref_metadata_2025_split huggingface dataset:
PRRT2 gene mutations associated with infantile convulsions induced by sucking and the genotype-phenotype correlation
Authors: Liu De-Tian , Tang Xue-Qing , Wan Rui-Ping , Luo Sheng , Guan Bao-Zhu , Li Bin , Liu Li-Hong , Li Bing-Mei , Liu Zhi-Gang , Xie Long-Shan , Yi Yong-Hong 
Published: July 2022

IntroductionPRRT2 is a major causative gene for self-limited familial neonatal-infantile epilepsy, paroxysmal kinesigenic dyskinesia, and paroxysmal kinesigenic dyskinesia with infantile convulsions. Voluntary movement trigger is prominent in adolescence and adulthood, but the triggers are unknown in infants.MethodsA gene panel designed for targeted next-generation sequencing (NGS) was used to screen genetic abnormalities in a cohort of 45 cases with infantile convulsions. The copy number variation was detected by a computational method based on the normalized depth of coverage and validated by a quantitative real-time polymerase chain reaction (RT-qPCR) method. The genotype-phenotype correlation of the PRRT2 mutation gene was analyzed.ResultsA de novo heterozygous PRRT2 deletion was identified in a child who had infantile convulsions induced by vigorous sucking. Seizures happened during the change of feeding behavior from breast to formula, which led to hungry and vigorous sucking. Ictal electroencephalograms recorded seizures with focal origination, which provided direct evidence of epileptic seizures in infants with PRRT2 mutations. Seizures stopped soon after the feeding behavior was changed by reducing feeding interval time and extending feeding duration. Data reanalysis on our previously reported cases with PRRT2 mutations showed that six of 18 (33.3%) patients had infantile convulsions or infantile non-convulsion seizures during feeding. The mutations included two truncating mutations (c.579dupA/p.Glu194Argfs*6, and c.649dupC/p.Arg217Profs*8) that were identified in each of the three affected individuals.ConclusionsThis study suggests that feeding, especially vigorous sucking, is potentially a trigger and highlights the significance of feeding behavior in preventing seizures in infants with PRRT2 mutations. Identification of PRRT2 haploinsufficiency mutations in the patients with infantile convulsions induced by sucking suggested a potential genotype-phenotype correlation.
Body mass index and variability in meal duration and association with rate of eating
Authors: Simon Stacey L. , Pan Zhaoxing , Marden Tyson , Zhou Wenru , Ghosh Tonmoy , Hossain Delwar , Thomas J. Graham , McCrory Megan A. , Sazonov Edward , Higgins Janine 
Published: July 2022

BackgroundA fast rate of eating is associated with a higher risk for obesity but existing studies are limited by reliance on self-report and the consistency of eating rate has not been examined across all meals in a day. The goal of the current analysis was to examine associations between meal duration, rate of eating, and body mass index (BMI) and to assess the variance of meal duration and eating rate across different meals during the day.MethodsUsing an observational cross-sectional study design, non-smoking participants aged 18–45 years (N = 29) consumed all meals (breakfast, lunch, and dinner) on a single day in a pseudo free-living environment. Participants were allowed to choose any food and beverages from a University food court and consume their desired amount with no time restrictions. Weighed food records and a log of meal start and end times, to calculate duration, were obtained by a trained research assistant. Spearman's correlations and multiple linear regressions examined associations between BMI and meal duration and rate of eating.ResultsParticipants were 65% male and 48% white. A shorter meal duration was associated with a higher BMI at breakfast but not lunch or dinner, after adjusting for age and sex (p = 0.03). Faster rate of eating was associated with higher BMI across all meals (p = 0.04) and higher energy intake for all meals (p &lt; 0.001). Intra-individual rates of eating were not significantly different across breakfast, lunch, and dinner (p = 0.96).ConclusionShorter beakfast and a faster rate of eating across all meals were associated with higher BMI in a pseudo free-living environment. An individual's rate of eating is constant over all meals in a day. These data support weight reduction interventions focusing on the rate of eating at all meals throughout the day and provide evidence for specifically directing attention to breakfast eating behaviors.
18F-FDG PET/CT Plays a Limited Role in Replacing Bone Marrow Biopsy for Newly Diagnosed Advanced-Stage Patients With Extranodal Natural Killer/T-Cell Lymphoma
Authors: Yang Chunli , Wu Wanchun , Zhou Huijie , Zhao Sha , Tian Rong , Xiang Maya , Zou Liqun 
Published: July 2022

PurposeThe role of 18F-2-fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography (18F-FDG PET/CT) in evaluating bone marrow (BM) involvement (BMI) among patients with extranodal natural killer/T-cell lymphoma (ENKTL) is poorly understood. This study investigated whether PET/CT could replace bone marrow biopsy (BMB) in treatment-naive ENKTL patients.MethodsNewly diagnosed ENKTL patients (n = 356) who received BMB and PET/CT to evaluate BMI at the time of diagnosis were retrospectively reviewed at West China Hospital between August 2008 and January 2020. The BMI diagnosis was confirmed using BM histology. Clinical characteristics, survival outcomes, and prognostic indicators were summarized and analyzed.ResultsThe cohort included 356 cases, of whom 261 were diagnosed with early-stage and 95 with advanced-stage ENKTL by PET/CT before initial treatment. No early-stage patients were identified with BMI by either BMB or PET/CT. Among the advanced-stage patients, 26 were BMB positive, and 12 of 22 patients (54.5%) with positive PET/BM results were also BMB positive. The sensitivity and specificity of PET/CT to detect BMI were 46% and 97%, respectively. The progression-free survival (PFS) and overall survival (OS) of PET/BM-negative patients were markedly longer (p = 0.010 and p = 0.001 for PFS and OS, respectively), which was consistent with the results of the BMB (p = 0.000 for both PFS and OS).ConclusionAlthough 18F-FDG PET/CT showed the potential to replace BMB in the initial staging of early-stage ENKTL patients, baseline PET/CT cannot provide an accurate BMI evaluation for advanced-stage patients. A prospective study is required to confirm the diagnostic performance of BMI identification by PET/CT, along with targeted BMB and MRI for advanced-stage patients.
Hereditary Breast Cancer in the Brazilian State of Ceará (The CHANCE Cohort): Higher-Than-Expected Prevalence of Recurrent Germline Pathogenic Variants
Authors: Gifoni Ana Carolina Leite Vieira Costa , Gifoni Markus Andret Cavalcante , Wotroba Camila Martins , Palmero Edenir Inez , Costa Eduardo Leite Vieira , dos Santos Wellington , Achatz Maria Isabel 
Published: July 2022

PurposeThere is a significant lack of epidemiological data on hereditary cancer in Northeast Brazil. This is the largest study on the prevalence and mutational spectrum of cancer predisposition genes conducted in this region and the first in the State of Ceará.MethodsPatients ≥18 years of age that were referred to CHANCE (Grupo de Câncer Hereditário do Ceará) from March 2014 to December 2020 with testing criteria for breast cancer susceptibility genes according to NCCN v.1.2021 were eligible to participate. The inclusion of patients was limited to one individual per family and to those born in the State of Ceará. All patients underwent a hereditary cancer panel testing with at least 30 genes.ResultsA total of 355 patients were included, and 97 (27.3%) carried a P/LP germline variant in 18 different genes. Among the 97 P/LP carriers, BRCA1 (31, 31.9%) and BRCA2 (25, 25.7%) were the most frequently mutated genes, followed by PALB2 (10, 10.3%), CHEK2 (7, 7.2%) and ATM (4, 4.1%). A small number of recurrent variants (detected in three or more individuals) in BRCA1, BRCA2, CHEK2 and ATM represented the majority of the P/LP variants described in this cohort.ConclusionIn this cohort, the prevalence of L/PL was high, particularly involving the BRCA1, BRCA2, PALB2, CHEK2 and ATM genes and, to a lesser extent than expected, the TP53 gene. A high frequency of recurrent variants was also observed, for which further and larger analyses should clarify the presence of any possible founder effect. Characterizing the mutational profile of cancer predisposition genes in diverse populations may contribute to cancer prevention and therapeutic management.
Target Coverage and Normal Organ Sparing in Dose-Escalated Total Marrow and Lymphatic Irradiation: A Single-Institution Experience
Authors: Han Chunhui , Liu An , Wong Jeffrey Y.C. 
Published: July 2022

Purpose/ObjectivesThe aim of this study is to report historical treatment planning experience at our institution for patients receiving total marrow and lymphatic irradiation (TMLI) as part of the conditioning regimen prior to hematopoietic stem cell transplant.Materials/MethodsBased on a review of all historical clinical TMLI treatments plans, we retrieved a 12-Gy cohort of 108 patients with a prescription dose of 12 Gy to the skeletal bones, lymph nodes, spleen, and spinal canal, and retrieved a 20-Gy cohort of 120 patients with an escalated prescription dose of 20 Gy to the skeletal bones, lymph nodes, spleen, and spinal cord, and 12 Gy to the brain and liver. Representative dosimetric parameters including mean and median dose, D80, and D10 (dose covering 80% and 10% of the structure volume, respectively) for targets and normal organs were extracted and compared between the two groups of patients.ResultsFor the 12-Gy cohort, the average mean dose for normal organs ranged from 18.3% to 78.3% of 12 Gy, and the average median dose ranged from 18.3% to 77.5% of 12 Gy. For the 20-Gy cohort, the average mean dose for normal organs ranged from 13.0% to 76.0% of 20 Gy, and the average median dose ranged from 12.5% to 75.0% of 20 Gy. Compared to the mean dose to normal organs in the 12-Gy cohort, the average mean dose to normal organs increased from 0.0% to 73.1%, with only four normal organs showing a &gt;50% increase. Normal organ dose in TMLI plans using volumetric modulated arc therapy fields fell within the dose range in historical TMLI plans.ConclusionDosimetric data in historical TMLI plans at our institution are summarized at prescription dose levels of 12 Gy and 20 Gy, respectively. Compared to the normal organ dose with a prescription dose of 12 Gy, the mean and median dose to most normal organs at an escalated prescription dose of 20 Gy had an increase less than prescription dose scaling. Dosimetric results from this study can be used as reference data to facilitate clinical implementation of TMLI at other institutions.
Vitamin D Status Among Children With Juvenile Idiopathic Arthritis: A Multicenter Prospective, Non-randomized, Comparative Study
Authors: Kondratyeva Elena I. , Odinaeva Nuriniso D. , Klimov Leonid Ya , Podchernyaeva Nadeshda S. , Ilenkova Natalya I. , Dolbnya Svetlana V. , Zhekaite Elena K. , Kuryaninova Victoria A. , Kotova Yuliya V. , Tikhaya Margarita I. , Shitkovskaya Elena P. , Bychina Liubov V. , Drepa Tamara G. , Zodbinova Aisa E. , Melyanovskaya Yuliya L. , Petrova Nika V. , Loshkova Elena V. , Kutsev Sergei I. 
Published: July 2022

BackgroundJuvenile idiopathic arthritis (JIA) is a chronic autoimmune disease characterized by destructive and inflammatory damage to the joints. The aim in this study was to compare vitamin D levels between children and adolescents, 1–18 years of age, with juvenile idiopathic arthritis (JIA) and a health control group of peers. We considered effects of endogenous, exogenous, and genetic factors on measured differences in vitamin D levels among children with JIA.MethodsOur findings are based on a study sample of 150 patients with various variants of JIA and 277 healthy children. The blood level of vitamin D was assessed by calcidiol level. The following factors were included in our analysis: age and sex; level of insolation in three regions of country (center, south, north); assessment of dietary intake of vitamin D; effect of prophylactic doses of cholecalciferol; a relationship between the TaqI, FokI, and BsmI polymorphisms of the VDR gene and serum 25(OH)D concentration.ResultsWe identified a high frequency of low vitamin D among children with JIA, prevalence of 66%, with the medial level of vitamin D being within the range of “insufficient” vitamin D. We also show that the dietary intake of vitamin D by children with JIA is well below expected norms, and that prophylactic doses of vitamin D supplementation (cholecalciferol) at a dose of 500–1,000 IU/day and 1,500–2,000 IU/day do not meet the vitamin D needs of children with JIA. Of importance, we show that vitamin D levels among children with JIA are not affected by clinical therapies to manage the disease nor by the present of VDR genetic variants.ConclusionProphylactic administration of cholecalciferol and season of year play a determining role in the development of vitamin D deficiency and insufficiency.
Watt-level high-stability all-solid-state passively Q-switched laser based on germanene nanosheets
Authors: Xu Baohao , Tang Wenjing , Sun Wanggen , Wang Jing , Jiang Kai , Hu Xinyu , Xia Wei 
Published: July 2022

Excellent Q-switching operations modulated by new two-dimensional (2D) saturable absorber (SA) materials with stable performance is a hot topic in all-solid-state pulsed laser research. In this work, the watt-level high-stability passive Q-switching operation in a solid-state Nd:YVO4 laser utilizing the 2D germanene nanosheets as SA was first realized. The nonlinear optical properties of the germanene nanosheets (Ge-Ns) were characterized by experimental means. The stable Q-switched pulse sequence was acquired with a 60.6 ns narrowest pulse width and a 528.6 kHz maximal repetition rate. The average output power of 0.965 W and the corresponding pulse peak power of 30.12 W are obtained under the pump power of 7 W. The findings of the experiments demonstrate that germanene material has remarkable nonlinear optical properties and can be used as an excellent saturable absorber in the field of optical pulse modulation.
Investigating the links between diagnostic uncertainty, emotional exhaustion, and turnover intention in General Practitioners working in the United Kingdom
Authors: Zhou Anli Yue , Zghebi Salwa S. , Hodkinson Alexander , Hann Mark , Grigoroglou Christos , Ashcroft Darren M. , Esmail Aneez , Chew-Graham Carolyn A. , Payne Rupert , Little Paul , Lusignan Simon de , Cherachi-Sohi Sudeh , Spooner Sharon , Zhou Andrew K. , Kontopantelis Evangelos , Panagioti Maria 
Published: July 2022

BackgroundGeneral Practitioners (GPs) report high levels of burnout, job dissatisfaction, and turnover intention. The complexity of presenting problems to general practice makes diagnostic uncertainty a common occurrence that has been linked to burnout. The interrelationship between diagnostic uncertainty with other factors such as burnout, job satisfaction and turnover intention have not been previously examined.ObjectivesTo examine associations between diagnostic uncertainty, emotional exhaustion (EE), depersonalization (DP), job satisfaction, and turnover intention in GPs.MethodsSeventy general practices in England were randomly selected through the Oxford-Royal College of General Practitioners Research and Surveillance Centre (RCGP-RSC). A total of 348 GPs within 67 these practices completed a 10-item online questionnaire which included questions on GP characteristics, work-life balance, job satisfaction, sickness presenteeism, diagnostic uncertainty, turnover intention as well as EE and DP. Associations between diagnostic uncertainty and each of EE, DP, job satisfaction, and turnover intention were evaluated in multivariate mixed-effect ordinal logistic regressions whilst adjusting for covariates, to account for the correlation in the three outcomes of interest.ResultsAlmost one-third of GPs (n = 101; 29%) reported experiencing &gt;10% of diagnostic uncertainty in their day-to-day practice over the past year. GPs reporting greater diagnostic uncertainty had higher levels of EE [OR = 3.90; 95% CI = (2.54, 5.99)], job dissatisfaction [OR = 2.01; 95% CI = (1.30, 3.13)] and turnover intention [OR = 4.51; 95% CI = (2.86, 7.11)]. GPs with no sickness presenteeism had lower levels of EE [OR = 0.53; 95% CI = (0.35, 0.82)], job dissatisfaction [OR = 0.56; 95% CI = (0.35, 0.88)], and turnover intention [OR = 0.61; 95% CI = (0.41, 0.91)].ConclusionDiagnostic uncertainty may not only negatively impact on the wellbeing of GPs, but could also have adverse implications on workforce retention in primary care.
Specific type of childhood trauma and borderline personality disorder in Chinese patients
Authors: Wu Yanru , Zheng Yuchen , Wang Jijun , Zhang Tianhong 
Published: July 2022

BackgroundChildhood maltreatment (CM) is a known risk factor for the development of mental disorders. An extensive body of literature about CM and mental health has been developed in wealthy countries, but information about this connection is lacking in developing countries including China.AimsTo explore the possible relationship between specific types of CM and borderline personality disorder (BPD) in patients with mental disorders in China.MethodsA survey was conducted in 2006, involving over 3,402 Chinese individuals aged 18–60 years who were randomly selected from the outpatients in the Shanghai Mental Health Center. The patients were screened with the Personality Diagnostic Questionnaire and CM was assessed using the Childhood Trauma Questionnaire. The final sample comprised 178 patients with BPD, 178 patients with other personality disorders (PDs), and 178 patients without PDs.ResultsIn Chinese patients, compared to other PDs, patients with BPDs are more likely to have experienced CM. Emotional maltreatment (emotional abuse and neglect) was the strongest predictor of BPD. Female gender and sexual abuse are significant predictors of the self-harm/suicidal risk of BPD patients.ConclusionThis is a pioneering study conducted on a large set of Chinese clinical samples with paired controls to establish and compare the associations between specific CM and BPD. Further studies in this field are necessary to elucidate the mechanism of how various types of childhood trauma have influenced PDs.
Family satisfaction and self-efficacy among low-income adolescents during the COVID-19 pandemic: A comparative analysis of parents' educational attainment
Authors: Lee Jaewon , Allen Jennifer , Lim Hyejung , Choi Gyuhyun , Jung Jiyu 
Published: July 2022

PurposesGiven that the period from middle to high school is important to develop and cultivate self-efficacy, reduced support in low-income families might negatively influence the development of self-efficacy among low-income students since COVID-19. This study aims to investigate the association between family satisfaction and self-efficacy among low-income students since COVID-19 and the moderating effect of parents' educational attainment on the relationship.Methods255 low-income students in South-Korea were selected for the final sample. The PROCESS macro 3.4 for Statistical Product and Service Solutions was used to analyze the data.ResultsFamily satisfaction was positively related to self-efficacy among low-income students. There was a significant moderating effect of parents' educational attainment on the relationship between family satisfaction and self-efficacy among low-income students during the COVID-19 pandemic.DiscussionFinancial support and COVID-19 benefits should be prioritized to low-income families with adolescents to improve family relationships, leading to increase self-efficacy among low-income students. Social welfare programs targeting family relationships in low-income households should be especially targeted toward low-income households without a parent who received higher education. Life-long education should be provided to parents in low-income families who did not gain higher education as their educational attainment influences the self-efficacy of their adolescent children.
Health care provider's experience and perspective of cervical cancer screening in Singapore: A qualitative study
Authors: Chua Brandon Wen Bing , Neo Pearlyn , Ma Viva Yan , Lim Li Min , Ng Joseph Soon Yau , Wee Hwee Lin 
Published: July 2022

BackgroundIn Singapore, the current cervical cancer screening (CCS) coverage rate of 48% falls below the national target of 70%. Health care providers (HCPs) play a critical role in promoting CCS uptake. However, there is limited understanding of the perspectives of HCPs regarding CCS. Hence, we aimed to understand the challenges encountered by HCPs delivering CCS in different care settings in the Singapore health system. We also aimed to explore perspectives on newer features of CCS such as self-sampling and HPV genotyping.MethodsPhysicians, nurses, program administrators and laboratory technicians involved with CCS were invited for a one-on-one semi-structured interview conducted over Zoom between May to August 2021. The interviews were transcribed and analyzed using thematic analysis.ResultsEighteen HCPs from 12 institutions were interviewed. Most participants were women (61.1%) and worked in public health institutions (72.2%). For factors influencing CCS, nine key themes were identified and organized into four categories: (1) patient factors, (2) HCP factors, (3) health system factors and (4) health promotion factors. Key themes commonly highlighted by study participants were related to patients' preferences and acceptance for screening, the processes of delivering CCS, the national priority for cervical cancer and the effectiveness of existing health promotion efforts. Five key themes were identified for CCS innovations. Self-sampling was viewed favorably to increase CCS uptake, while primary HPV screening with HPV partial genotyping had higher sensitivities to detect pre-cancers and cancers compared to cytology. Extended HPV genotyping beyond HPV16/18 could play an important role in CCS with increasing HPV vaccination coverage, as well as in the management of persistent HPV infection.ConclusionIn Singapore, HCPs face multiple challenges for CCS in practice. Insights from this study are directly relevant to, and useful for developing policies around national CCS programs and treatment guidelines.