bluuebunny/crossref_metadata_2025_split huggingface dataset:
Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome
Authors: Schigt Heidi , Bald Martin , van der Eerden Bram C J , Gal Lars , Ilenwabor Barnabas P , Konrad Martin , Levine Michael A , Li Dong , Mache Christoph J , Mackin Sharon , Perry Colin , Rios Francisco J , Schlingmann Karl Peter , Storey Ben , Trapp Christine M , Verkerk Annemieke J M H , Zillikens M Carola , Touyz Rhian M , Hoorn Ewout J , Hoenderop Joost G J , de Baaij Jeroen H F 
Published: March 2023

AbstractContextKenny–Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyte disturbances. KCS1 and KCS2 are caused by pathogenic variants in TBCE and FAM111A, respectively. Clinically the phenotypes are difficult to distinguish.ObjectiveThe objective was to determine and expand the phenotypic spectrum of KCS1 and KCS2 in order to anticipate complications that may arise in these disorders.MethodsWe clinically and genetically analyzed 10 KCS2 patients from 7 families. Because we found unusual phenotypes in our cohort, we performed a systematic review of genetically confirmed KCS cases using PubMed and Scopus. Evaluation by 3 researchers led to the inclusion of 26 papers for KCS1 and 16 for KCS2, totaling 205 patients. Data were extracted following the Cochrane guidelines and assessed by 2 independent researchers.ResultsSeveral patients in our KCS2 cohort presented with intellectual disability (3/10) and chronic kidney disease (6/10), which are not considered common findings in KCS2. Systematic review of all reported KCS cases showed that the phenotypes of KCS1 and KCS2 overlap for postnatal growth retardation (KCS1: 52/52, KCS2: 23/23), low parathyroid hormone levels (121/121, 16/20), electrolyte disturbances (139/139, 24/27), dental abnormalities (47/50, 15/16), ocular abnormalities (57/60, 22/23), and seizures/spasms (103/115, 13/16). Symptoms more prevalent in KCS1 included intellectual disability (74/80, 5/24), whereas in KCS2 bone cortical thickening (1/18, 16/20) and medullary stenosis (7/46, 27/28) were more common.ConclusionOur case series established chronic kidney disease as a new feature of KCS2. In the literature, we found substantial overlap in the phenotypic spectra of KCS1 and KCS2, but identified intellectual disability and the abnormal bone phenotype as the most distinguishing features.
Impaired Adipocyte SLC7A10 Promotes Lipid Storage in Association With Insulin Resistance and Altered BCAA Metabolism
Authors: Jersin Regine Å , Sri Priyanka Tallapragada Divya , Skartveit Linn , Bjune Mona S , Muniandy Maheswary , Lee-Ødegård Sindre , Heinonen Sini , Alvarez Marcus , Birkeland Kåre Inge , André Drevon Christian , Pajukanta Päivi , McCann Adrian , Pietiläinen Kirsi H , Claussnitzer Melina , Mellgren Gunnar , Dankel Simon N 
Published: March 2023

Abstract

Context
The neutral amino acid transporter SLC7A10/ASC-1 is an adipocyte-expressed gene with reduced expression in insulin resistance and obesity. Inhibition of SLC7A10 in adipocytes was shown to increase lipid accumulation despite decreasing insulin-stimulated uptake of glucose, a key substrate for de novo lipogenesis. These data imply that alternative lipogenic substrates to glucose fuel continued lipid accumulation during insulin resistance in obesity.

Objective
We examined whether increased lipid accumulation during insulin resistance in adipocytes may involve alter flux of lipogenic amino acids dependent on SLC7A10 expression and activity, and whether this is reflected by extracellular and circulating concentrations of marker metabolites.

Methods
In adipocyte cultures with impaired SLC7A10, we performed RNA sequencing and relevant functional assays. By targeted metabolite analyses (GC-MS/MS), flux of all amino acids and selected metabolites were measured in human and mouse adipose cultures. Additionally, SLC7A10 mRNA levels in human subcutaneous adipose tissue (SAT) were correlated to candidate metabolites and adiposity phenotypes in 2 independent cohorts.

Results
SLC7A10 impairment altered expression of genes related to metabolic processes, including branched-chain amino acid (BCAA) catabolism, lipogenesis, and glyceroneogenesis. In 3T3-L1 adipocytes, SLC7A10 inhibition increased fatty acid uptake and cellular content of glycerol and cholesterol. SLC7A10 impairment in SAT cultures altered uptake of aspartate and glutamate, and increased net uptake of BCAAs, while increasing the net release of the valine catabolite 3- hydroxyisobutyrate (3-HIB). In human cohorts, SLC7A10 mRNA correlated inversely with total fat mass, circulating triacylglycerols, BCAAs, and 3-HIB.

Conclusion
Reduced SLC7A10 activity strongly affects flux of BCAAs in adipocytes, which may fuel continued lipogenesis during insulin resistance, and be reflected in increased circulating levels of the valine-derived catabolite 3-HIB.
Hypothalamic PACAP/PAC1R Involvement in Feeding and Body Weight Regulation
Authors: Maunze Brian , Choi SuJean 
Published: March 2023

AbstractPituitary adenylate cyclase-activating polypeptide (PACAP) and its cognate receptor PAC1R play key roles in energy balance. Central neuropeptide systems like PACAP are critical to the neuroendocrine system that regulates energy homeostasis in regions of the hypothalamus. A thorough investigation into central PACAP's influence on energy balance presents an opportunity to reveal putative causes of energy imbalance that could lead to obesity. In this review, we provide a brief overview of preclinical studies that have examined hypothalamic PACAP's influence on feeding behavior and metabolic regulation. Notably, due to the complexity and pleiotropic nature of the PACAP system, we highlight the need for a nuanced examination of PACAP signaling that utilizes a complex intersection of signaling circuitry in energy regulation that could ultimately offer insights to future therapeutic targets relevant for treating obesity.
The fire of evolution: energy expenditure and ecology in primates and other endotherms
Authors: McGrosky Amanda , Pontzer Herman 
Published: March 2023

ABSTRACTTotal energy expenditure (TEE) represents the total energy allocated to growth, reproduction and body maintenance, as well as the energy expended on physical activity. Early experimental work in animal energetics focused on the costs of specific tasks (basal metabolic rate, locomotion, reproduction), while determination of TEE was limited to estimates from activity budgets or measurements of subjects confined to metabolic chambers. Advances in recent decades have enabled measures of TEE in free-living animals, challenging traditional additive approaches to understanding animal energy budgets. Variation in lifestyle and activity level can impact individuals’ TEE on short time scales, but interspecific differences in TEE are largely shaped by evolution. Here, we review work on energy expenditure across the animal kingdom, with a particular focus on endotherms, and examine recent advances in primate energetics. Relative to other placental mammals, primates have low TEE, which may drive their slow pace of life and be an evolved response to the challenges presented by their ecologies and environments. TEE variation among hominoid primates appears to reflect adaptive shifts in energy throughput and allocation in response to ecological pressures. As the taxonomic breadth and depth of TEE data expand, we will be able to test additional hypotheses about how energy budgets are shaped by environmental pressures and explore the more proximal mechanisms that drive intra-specific variation in energy expenditure.
Electrochemically Triggered Hole-Catalytic Benzylic Substitution Reaction at a Polymer Chain Containing β-O-4 Linkage
Authors: Izumiya Rumi , Atobe Mahito , Shida Naoki 
Published: March 2023

Abstract
Organic electrosynthesis enables clean, sustainable, and unique molecular transformations; however, its application to polymeric materials is restricted by their sterically demanding nature, which hinders quantitative electron transfer at the electrode surface. Herein, we report, for the first time, a hole-catalytic reaction triggered via anodic oxidation as a key strategy for achieving a high degree of electrochemical transformation in polymeric materials. Careful molecular and reaction design enabled hole-catalytic benzylic substitution, with an 88% degree of substitution, in a sterically hindered polymer, via an electrolytically generated radical cation. Mechanistic studies revealed that through-space delocalization of holes between neighboring aromatic systems contributes significantly to the stabilization of the radical cation species and intra-chain hole transfer. Thus, this study establishes hole catalysis as an effective strategy for the electrochemical transformation of polymers, which may aid the design of sustainable electrosynthetic strategies for functional macromolecules.
Prevalence of oral HPV among people living with HIV (PLHIV) in Pune, India
Authors: Marbaniang Ivan , Joshi Samir , Borse Rohidas , Khaire Samir , Thakur Rahul , Deshpande Prasad , Kulkarni Vandana , Chavan Amol , Nimkar Smita , Mave Vidya 
Published: March 2023

Background: People living with HIV (PLHIV) are at an increased risk of human papillomavirus (HPV)-related head and neck cancers (HNCs). However, there is little data on the prevalence of oral HPV among PLHIV in India, limiting the planning of oral HPV preventive strategies. Methods: We used cross-sectional data from an oral cancer screening study conducted at the antiretroviral therapy (ART) centre of Byramjee-Jeejeebhoy Government Medical College-Sassoon General Hospitals (BJGMC-SGH). PLHIV ≥21 years of age with no prior history of HNCs were enrolled. We determined the prevalence of high-risk oncogenic HPV (hrHPV) and low-risk non-oncogenic HPV (lrHPV) using real-time PCR and Next-Generation Sequencing. We used multinomial logistic regression to determine the prevalence ratios (PRs) of different sociodemographic, clinical, and behavioural predictors with hrHPV and lrHPV. Multivariable models were adjusted for age, sex, CD4 count and duration on ART. Results: Of the 582 PLHIV enrolled, the median age was 40 years (IQR: 34–46) and 54% were male. More than a fourth (25.8%) had multiple sexual partners and 11% had given oral sex. Median CD4 counts were 510 cells/mm3 (IQR: 338–700). The prevalence of hrHPV was 4.5% and lrHPV was 3.4%. Of those with hrHPV, 77% had HPV16. There were no significant associations with any predictors for both lrHPV and hrHPV in adjusted analyses. Conclusions: We found the prevalence of any oral HPV (hrHPV and lrHPV) to be 7.9% among PLHIV in India. Larger studies are required to better understand risk factors for oral HPV among Indian PLHIV.
Measuring students’ ability to identify core elements in a patient-centered consultation with a new tool comprising a questionnaire and a video consultation from general practice. Guidance for the learning process.
Authors: Jorgensen Merete , Thorsen Hanne , Siersma Volkert , Bang Christine 
Published: March 2023

Introduction: Diverse ways to measure course effectiveness in medical education exist, but it takes time to have the results. The authors have developed a tool consisting of a questionnaire (DanOBS) combined with a test video consultation. The students watched a consultation video and completed a questionnaire about patient-centered elements before and after the course. This study aimed to evaluate the learning process for teachers and students with the DanOBS and a consultation video. Method: Altogether 201 students from autumn 2019 were included in this study, assigned by the university to three general practice courses and six small study groups. After introducing the patient-centered consultation model on the first day of the course, the students watched a video consultation and completed the DanOBS online on their Mobile Phones. They watched the video and completed the questionnaire again on one of the last days of the course. The number of correct answers in each item was compared before and after the course. Furthermore, effect sizes for each item were calculated. Results: The number of students completing the questionnaire before and after the course was 161. The number of correct answers increased after the course. Items where the teaching was a success, as well as items where it needs intensifying, were identified. The DanOBS instrument reflected the effect of strengthening the learning in some elements of the patient-centered mode. Conclusion: A tool for measuring efficacy in teaching patient-centered consultation has been implemented and has given valuable information to teachers about where the students need intensified teaching. The tool can measure the effectiveness of various educational interventions.
The impact of aesthetic medicine procedures on patient comfort in life, physical activity and mental health
Authors: Karwańska Aleksandra , Kulbat Aleksandra , Matyka Kamila , Uniłowska Izabela , Kojder Ewa , Dolenha Arsen , Dovzhuk Yuliia , Ochał Justyna , Ferschke Anna , Szymczyk Aleksandra 
Published: March 2023

Introduction
Aesthetic medicine procedures significantly affect the comfort of patient's lives, their amount of physical activity and mental health. Today, medicine serves not only to eliminate the consequences of diseases or their prevention, but also aesthetic considerations, which are directly related to the quality of life in general.
Purpose
The purpose of this review is to present the current state of knowledge on the impact of aesthetic medicine procedures on the comfort of patients' lives.
Methods
Literature was searched in PubMed and Google Scholarship databases. Publicly available books were searched.
Results
People who use aesthetic medicine can improve their self-esteem and even their socioeconomic status or get a better job than before.
Conclusions
Patients’s quality of life and mental health significantly increase after aesthetic medicine procedures.
Maternal immunisation against Group B Streptococcus: A global analysis of health impact and cost-effectiveness
Authors: Procter Simon R. , Gonçalves Bronner P. , Paul Proma , Chandna Jaya , Seedat Farah , Koukounari Artemis , Hutubessy Raymond , Trotter Caroline , Lawn Joy E. , Jit Mark 
Published: March 2023

Background
Group B Streptococcus (GBS) can cause invasive disease (iGBS) in young infants, typically presenting as sepsis or meningitis, and is also associated with stillbirth and preterm birth. GBS vaccines are under development, but their potential health impact and cost-effectiveness have not been assessed globally.

Methods and findings
We assessed the health impact and value (using net monetary benefit (NMB), which measures both health and economic effects of vaccination into monetary units) of GBS maternal vaccination in an annual cohort of 140 million pregnant women across 183 countries in 2020. Our analysis uses a decision tree model, incorporating risks of GBS-related health outcomes from an existing Bayesian disease burden model. We extrapolated country-specific GBS-related healthcare costs using data from a previous systematic review and calculated quality-adjusted life years (QALYs) lost due to infant mortality and long-term disability. We assumed 80% vaccine efficacy against iGBS and stillbirth, following the WHO Preferred Product Characteristics, and coverage based on the proportion of pregnant women receiving at least 4 antenatal visits. One dose was assumed to cost $50 in high-income countries, $15 in upper-middle income countries, and $3.50 in low−/lower-middle-income countries. We estimated NMB using alternative normative assumptions that may be adopted by policymakers.
Vaccinating pregnant women could avert 127,000 (95% uncertainty range 63,300 to 248,000) early-onset and 87,300 (38,100 to 209,000) late-onset infant iGBS cases, 31,100 deaths (14,400 to 66,400), 17,900 (6,380 to 49,900) cases of moderate and severe neurodevelopmental impairment, and 23,000 (10,000 to 56,400) stillbirths. A vaccine effective against GBS-associated prematurity might also avert 185,000 (13,500 to 407,000) preterm births. Globally, a 1-dose vaccine programme could cost $1.7 billion but save $385 million in healthcare costs. Estimated global NMB ranged from $1.1 billion ($−0.2 to 3.8 billion) under the least favourable normative assumptions to $17 billion ($9.1 to 31 billion) under the most favourable normative assumptions.
The main limitation of our analysis was the scarcity of data to inform some of the model parameters such as those governing health-related quality of life and long-term costs from disability, and how these parameters may vary across country contexts.

Conclusions
In this study, we found that maternal GBS vaccination could have a large impact on infant morbidity and mortality. Globally, a GBS maternal vaccine at reasonable prices is likely to be a cost-effective intervention.
Prevalence and predictors of suicidal behaviours among primary and secondary school going adolescents in Botswana
Authors: Forty James , Navaneetham Kannan , Letamo Gobopamang 
Published: March 2023

Background
There is a scarcity of studies on the prevalence and predictors of suicide behaviors among primary and secondary school going adolescents aged 10–19 years in Botswana hence, this study would fill that gap.

Methods
This study used cross-sectional secondary data from Botswana Youth Risk Behavior and Biological Surveillance Survey (BYRBBSS), 2010. Multivariable binary logistic regression models were used to investigate the predictors of suicide behaviours.

Results
The study shows that 51.5% of the respondents reported having ever contemplated suicide while 40.1% of the respondents attempted suicide in the last 12 months before the survey. The study found that male learners (AOR = 0.61, 95% CI = 0.44–0.83), learners who were not attacked or threatened or injured by someone (AOR = 0.35, 95% CI = 0.17–0.72), who were not bullied (AOR = 0.22, 95% CI = 0.13–0.39), and who were confident of themselves (AOR = 0.55, 95% CI = 0.39–0.76) were less likely to contemplate suicide. Whereas learners with primary school level education were more likely to contemplate suicide (AOR = 2.12, 95% CI = 1.14–3.95). Males were less likely than their female counterparts to attempt suicide (AOR = 0.68, 95% CI = 0.47–0.97). Regarding attempt, learners who had self-confidence (AOR = 0.35, 95% CI = 0.24–0.50), not being bullied (AOR = 0.20, 95% CI = 0.11–0.35), not being attacked or threatened or injured by someone (AOR = 0.35, 95% CI = 0.18–0.69), not engaging in a physical fight that led to injury (AOR = 0.34, 95% CI = 0.19–0.61) were less likely to attempt suicide. Whereas being at primary school (AOR = 5.29, 95% CI = 2.58–10.86), and missing classes once or more in a week (AOR = 1.70, 95% CI = 1.05–2.76) were associated with increased likelihood of suicide attempt.

Conclusion
The study shows that suicide behaviours as big challenges in Botswana among primary and secondary school going adolescents aged 10–19 years. Thus, the study recommends policy interventions aiming at including education on peer bullying or fighting or attack at primary and secondary education levels if not already in existence. There should also be interventions aiming at educating guardians and teachers on consequences of bullying or fighting so that they should consistently remind their children not to bully and for them to open up if they are being bullied. The study further recommends that schools and communities at large should have a psychosocial system for bullying or fighting reporting, follow-up, and appropriate corrective interventions for the offenders. There should also be self-confidence instilling education as well as sex/gender-specific interventions for instance girls can be given platform (private if necessary) to express peculiar problems to them that need specific help.
Transcatheter Aortic Valve-in-Valve-in-Valve Replacement in a Young Woman With Transcatheter Structural Valve Deterioration Within a Degenerated Aortic Root Homograft
Authors: Hong Jonathan C. , Orozco-Sevilla Vicente , Diez Jose G. , Coselli Joseph S. 
Published: March 2023

Abstract
Transcatheter aortic valve replacement is a well-established procedure for older patients with symptomatic, severe aortic stenosis. However, data are lacking on its durability and long-term complications, particularly in young patients and patients treated for aortic valve regurgitation. This article describes the case of a 27-year-old woman with complex congenital cardiovascular disease who, after 4 previous aortic valve replacement procedures, presented with structural deterioration of her most recent replacement valve, which had been placed by transcatheter aortic valve replacement inside a failed aortic root homograft 6 years earlier. After the patient had undergone this transcatheter aortic valve replacement procedure to treat aortic valve regurgitation related to her degenerated aortic root homograft, she became pregnant and successfully carried her high-risk pregnancy to term. However, the replacement valve deteriorated during the late stages of pregnancy, resulting in substantial hemodynamic changes between the first trimester and the postpartum period. To avoid repeat sternotomy, a redo transcatheter valve-in-valve replacement procedure procedure was performed through the right carotid artery. Because the patient wanted to have more children and therefore avoid anticoagulation, a SAPIEN 3 transcatheter valve (Edwards Lifesciences) was placed as a bridge to a future, more-durable aortic root replacement. The result in this case suggests that in patients with complex adult congenital pathology, transcatheter aortic valve replacement can be used as a temporizing bridge to subsequent, definitive aortic valve repair.
Fundações corporativas: A privatização da educação e as estratégias de legitimidade política via responsabilidade social corporativa
Authors: Bittar-Godinho Juliana de Souza , Lima João Paulo Resende de 
Published: March 2023

O objetivo deste trabalho é analisar os comportamentos das fundações corporativas (FCs) em seu papel de influenciar a política educacional via RSC. Complementarmente, analisaremos como a ideologia neoliberal se insere nos discursos destas FCs. Partiu-se da abordagem interpretativista e adotou-se metodologia qualitativa para análise dos documentos pelo software Nvivo. Identificamos as estratégias adotadas conforme adaptação da tipologia de Zhao (2012). Constatamos que as FCs exercem legitimidade política via RSC por duas estratégias principais: “Mudar Políticas” e “Inovar na Capacidade Operacional e Decisória do Estado”. Estas estratégias estão relacionadas. Para mudar as políticas públicas, a empresa precisa fazer parcerias com o Estado, mostrando como o novo arranjo atende às demandas estatais. São mecanismos utilizados na estratégia “Mudar Políticas: participação em diálogos formais; na formulação de políticas públicas (regime de Colaboração nas escolas, Reforma do Ensino Médio, Homologação da Base Nacional Comum Curricular para o Ensino Fundamental), movimentos empresariais; apoio ao Conselho Nacional de Secretários da Educação, promoção de fóruns. O trabalho contribui para uma discussão pública acerca da participação de FCs na educação e no processo democrático, questionando limites, transparência de objetivos, interesses estratégicos e ressaltando a necessidade de inclusão equilibrada de outros atores da sociedade civil.