bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cutaneous Collagenous Vasculopathy: A Retrospective Clinical and Histopathologic Analysis of 34 Cases
Authors: Aristizabal Miguel A. , Sokumbi Olayemi 
Published: October 2024

Background: Cutaneous collagenous vasculopathy (CCV) is a rare acquired microangiopathy that commonly affects middle-aged, fair-skinned individuals. It presents with telangiectatic lesions involving the lower extremities. Histologic analysis is mandatory for diagnosis. Objectives: To describe and characterize the patients diagnosed with CCV at the Mayo Clinic. Methods: A multicenter retrospective observational analysis was performed on patients with a clinical and histological diagnosis of CCV at the Mayo Clinic in Florida, Arizona, and Rochester from January 2000 to October 2023. Results: The study included 34 patients, 22 (64.7%) females. The median age at diagnosis was 52 years (range, 12-80 years). CCV lesions were found to affect the lower extremities in 29 (85.3%) patients, followed by the trunk in 14 (41.2%). Nineteen (55.9%) patients presented 1 concomitant medical condition, 8 (23.5%) 2 conditions, and 5 (14.7%) 3 or more medical conditions, such as arterial hypertension 10 (29.4%), type 2 diabetes mellitus 3 (8.8%), hyperlipidemia 3 (8.8%), cardiac disease 3 (8.8%), and hematologic malignancy 3 (8.8%). Thirty-one patients (91.2%) were taking medications, with 19 (55.9%) taking 3 or more. Pathology staining revealed periodic acid-Schiff positivity in 23 of 34 cases (67.6%), and collagen IV in 26 of 34 cases (47.1%). Treatments included pulsed dye laser 3 (8.8%) and topical sirolimus 1 (2.9%). Conclusions: CCV is an uncommon microangiopathy that affects pediatric, middle-aged, and elderly patients. It involves the lower extremities, trunk, and upper extremities. Patients often present with associated metabolic and cardiovascular conditions and are usually taking at least 1 medication. Treatment options are limited.
Hormone receptor status influences the impact of body mass index and hyperglycemia on the risk of tumor relapse in early-stage HER2-positive breast cancer patients
Authors: Ligorio Francesca , Zambelli Luca , Bottiglieri Achille , Castagnoli Lorenzo , Zattarin Emma , Lobefaro Riccardo , Ottini Arianna , Vingiani Andrea , Pupa Serenella M. , Bianchi Giulia V. , Capri Giuseppe , Pruneri Giancarlo , de Braud Filippo , Vernieri Claudio 
Published: October 2024

Background: High body mass index (BMI) has been associated with worse clinical outcomes in patients with early-stage breast cancer (BC), and its negative effects could be mediated by hyperglycemia/diabetes. However, the prognostic impact of high BMI in early-stage HER2-positive (HER2+) BC patients remains controversial. Methods: We conducted a retrospective study to investigate the impact of baseline BMI or glycemia on relapse-free survival (RFS) and overall survival (OS) in patients with surgically resected, stage I–III HER2+ BC treated with standard-of-care, trastuzumab-containing adjuvant biochemotherapy. The optimal BMI and glycemia cut-off values for RFS were identified through maximally selected rank statistics. Cox regression models were used to assess the impact of BMI, glycemia and other relevant variables on clinical outcomes. Results: Among 505 patients included in the study, a BMI cut-off of 27.77 kg/m2 was identified as the best threshold to discriminate between patients with low BMI ( n = 390; 77.2%) or high BMI ( n = 115; 22.8%). At multivariable analysis, higher BMI was associated with significantly worse RFS [hazard ratio 2.26; 95% confidence interval (CI): 1.08–4.74, p = 0.031] and worse OS (hazard ratio 2.25, 95% CI 1.03–4.94, p = 0.043) in the whole patient population. The negative impact of high BMI was only observed in patients with hormone receptor (HR)-negative/HER2+ BC (hazard ratio 2.29; 95% CI: 1.01–5.20; p = 0.047), but not in patients with HR-positive (HR+)/HER2+ BC (hazard ratio 1.36; 95% CI: 0.61–3.07, p = 0.452). By contrast, hyperglycemia (⩾109 mg/dl) at baseline was associated with a trend toward significantly worse RFS at multivariable analysis only in patients with HR+/HER2+ BC (hazard ratio 2.52; 95% CI: 0.89–7.1; p = 0.080). Conclusions: High BMI is associated with worse clinical outcomes in early-stage HR−/HER2+ BC patients treated with trastuzumab-containing adjuvant biochemotherapy, while baseline hyperglycemia could be a predictor of worse RFS in HR+/HER2+ BC patients. Prospective studies are needed to investigate if modifying patient BMI/glycemia during treatment can improve clinical outcomes.
Impact of Virtual Navigation on the Education and Access of Patients with Cancer: A National Mixed Methods Investigation
Authors: Haag Susan , Schaffer Joyce 
Published: October 2024

Introduction Despite growing evidence of efficacy, oncology patient navigation is not ubiquitously offered. Navigation may reduce barriers to cancer care, yet geographic location may limit patient access. To overcome geographical barriers and increase patient education in oncology, our medical center developed a virtual navigation program. Objective To examine the efficacy of the Virtual Navigation Program designed to increase patient access and education across local and national contexts Methods In this mixed-methods study, a total of 105 individuals completed an online survey administered nationally to oncology patients who used the navigation program. Clinical and demographic data were collected. Nonparametric tests were used for group comparisons (Wilcoxon Signed-Ranks test). Results Virtual navigation increased access as the majority of patients utilized the Virtual Navigation Program beyond the local area; 42% of patients were local; 58% were patients located across the US. 55 (52%) were female; 25% were non-White. Pancreatic cancer was the largest tumor type: 51 (49%). Patients agreed the virtual cancer education helped them make critical health choices (mean 4.89 SD = 84); understand their diagnosis (mean 4.44 SD = .77); were able to make informed decisions (mean 4.43 SD = .83), and empowered to manage their cancer care (mean 4.58 SD = .82). Post navigation, the user experience survey revealed significant increases in a subset of patients’ cancer knowledge ( P < 0.001), access to quality cancer education ( P = 0.045), decision-making in cancer care (P < 0.05), and coordinated cancer care ( P = 0.03). Conclusion This study explores a unique role that virtual navigation may play in helping accommodate healthcare for many cancer patients in underserved areas. The use of innovative aspects of research and education in virtual navigation may be successful in promoting patient empowerment in the cancer continuum. Internet-strategies are needed to inform sustainable patient navigation in low-resource contexts.
Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome
Authors: Asta Lisa , Ricciardello Arianna , Cucinotta Francesca , Turriziani Laura , Boncoddo Maria , Bellomo Fabiana , Angelini Jessica , Gnazzo Martina , Scandolo Giulia , Pisanò Giulia , Pelagatti Francesco , Chehbani Fethia , Camia Michela , Persico Antonio M. 
Published: October 2024

Abstract
Background
Phelan-McDermid syndrome (PMS) is caused by monoallelic loss or inactivation at the SHANK3 gene, located in human chr 22q13.33, and is often associated with Autism Spectrum Disorder (ASD).

Objectives
To assess the clinical and developmental phenotype in a novel sample of PMS patients, including for the first time auxometric trajectories and serotonin blood levels.

Methods
70 Italian PMS patients were clinically characterized by parental report, direct medical observation, and a thorough medical and psychodiagnostic protocol. Serotonin levels were measured in platelet-rich plasma by HPLC.

Results
Our sample includes 59 (84.3%) cases with chr. 22q13 terminal deletion, 5 (7.1%) disruptive SHANK3 mutations, and 6 (8.6%) ring chromosome 22. Intellectual disability was present in 69 (98.6%) cases, motor coordination disorder in 65 (92.9%), ASD in 20 (28.6%), and lifetime bipolar disorder in 12 (17.1%). Prenatal and postnatal complications were frequent (22.9%-48.6%). Expressive and receptive language were absent in 49 (70.0%) and 19 (27.1%) cases, respectively. Decreased pain sensitivity was reported in 56 (80.0%), hyperactivity in 49 (80.3%), abnormal sleep in 45 (64.3%), congenital dysmorphisms in 35 (58.3%), chronic stool abnormalities and especially constipation in 29 (41.4%). Parents reported noticing behavioral abnormalities during early childhood immediately after an infective episode in 34 (48.6%) patients. Brain MRI anomalies were observed in 53 (79.1%), EEG abnormalities in 16 (23.5%), kidney and upper urinary tract malformations in 18 (28.1%). Two novel phenotypes emerged: (a) a subgroup of 12/44 (27.3%) PMS patients displays smaller head size at enrollment (mean age 11.8 yrs) compared to their first year of neonatal life, documenting a deceleration of head growth (p < 0.001); (b) serotonin blood levels are significantly lower in 21 PMS patients compared to their 21 unaffected siblings (P < 0.05), and to 432 idiopathic ASD cases (p < 0.001).

Conclusions
We replicate and extend the description of many phenotypic characteristics present in PMS, and report two novel features: (1) growth trajectories are variable and head growth appears to slow down during childhood in some PMS patients; (2) serotonin blood levels are decreased in PMS, and not increased as frequently occurs in ASD. Further investigations of these novel features are under way.
X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes
Authors: Schaffer Lukas , Rau Srishti , Larsen Isabella G. , Clasen Liv , Warling Allysa , Whitman Ethan T. , Nadig Ajay , McDermott Cassidy , Xenophontos Anastasia , Wilson Kathleen , Blumenthal Jonathan , Torres Erin , Raznahan Armin 
Published: October 2024

Abstract
Background
Do different genetic disorders impart different psychiatric risk profiles? This question has major implications for biological and translational aspects of psychiatry, but has been difficult to tackle given limited access to shared batteries of fine-grained clinical data across genetic disorders.

Methods
Using a new suite of generalizable analytic approaches, we examine gold-standard diagnostic ratings, scores on 66 dimensional measures of psychopathology, and measures of cognition and functioning in two different sex chromosome aneuploidies (SCAs)—Klinefelter (XXY/KS) and XYY syndrome (n = 102 and 64 vs. n = 74 and 60 matched XY controls, total n = 300). We focus on SCAs for their high collective prevalence, informativeness regarding differential X- vs. Y-chromosome effects, and potential relevance for normative sex differences.

Results
We show that XXY/KS elevates rates for most psychiatric diagnoses as previously reported for XYY, but disproportionately so for anxiety disorders. Fine-mapping across all 66 traits provides a detailed profile of psychopathology in XXY/KS which is strongly correlated with that of XYY (r = .75 across traits) and robust to ascertainment biases, but reveals: (i) a greater penetrance of XYY than KS/XXY for most traits except mood/anxiety problems, and (ii) a disproportionate impact of XYY vs. XXY/KS on social problems. XXY/KS and XYY showed a similar coupling of psychopathology with adaptive function and caregiver strain, but not IQ.

Conclusions
This work provides new tools for deep-phenotypic comparisons of genetic disorders in psychiatry and uses these to detail unique and shared effects of the X- and Y-chromosome on human behavior.
Whole-genome sequencing of non-typeable Haemophilus influenzae isolated from a tertiary care hospital in Surabaya, Indonesia
Authors: Krisna Made Ananda , Alimsardjono Lindawati , Salsabila Korrie , Vermasari Naritha , Daningrat Wa Ode Dwi , Kuntaman Kuntaman , Harrison Odile Barbara , Maiden Martin Christopher James , Safari Dodi 
Published: October 2024

Abstract
Background
Haemophilus influenzae causes life-threatening invasive diseases such as septicaemia and meningitis. Reports on circulating H. influenzae causing invasive disease in lower-middle income settings, including Indonesia, are lacking. This study describes the serotype distributions and whole-genome sequence (WGS) data of H. influenzae isolated from hospitalized patients at Soetomo Hospital, Surabaya, Indonesia.

Methods
H. influenzae isolates were isolated from blood and pleural fluid specimens and identified using culture-based and molecular methods, followed by serotyping and WGS using RT‒PCR and Illumina MiSeq, respectively. Sequencing reads were assembled, and further analyses were undertaken to determine the genomic content and reconstruct the phylogeny. A second dataset consisting of publicly available H. influenzae genomes was curated to conduct phylogenetic analyses of isolates in this study in the context of globally circulating isolates.

Results
Ten H. influenzae isolates from hospitalized patients were collected, and septicaemia was the most common diagnosis (n=8). RT‒PCR and WGS were performed to determine whether all the isolates were nontypeable H. influenzae (NTHi). There were four newly identified STs distributed across the two main clusters. A total of 91 out of 126 virulence factor (VF)-related genes in Haemophilus sp. were detected in at least one isolate. Further evaluation incorporating a global collection of H. influenzae genomes confirmed the diverse population structure of NTHi in this study.

Conclusion
This study showed that all H. influenzae recovered from invasive disease patients were nonvaccine-preventable NTHi isolates. The inclusion of WGS revealed four novel STs and the possession of key VF-associated genes.
Burden of disease and cost of illness of infants less than 6 months of age hospitalised with respiratory syncytial virus in Denmark – a 10-year national register-based study
Authors: von Linstow Marie-Louise , Rudolfsen Jan Håkon , Olsen Jens , Skovdal Mette , Staerke Nina Breinholt 
Published: October 2024

AbstractBackgroundRespiratory syncytial virus (RSV) is the most common cause of hospitalisation in infants aged ≤ 6 months in Western countries. Nearly 1,500 infants under six months of age are hospitalised with RSV annually in Denmark. This nationwide study describes the healthcare resource utilisation and costs related to RSV hospitalisation in this vulnerable age group.MethodsRSV cases were identified in the Danish National Patient Register. Infants were included if they at the age of 0–5 months had a (1) respiratory related hospital admission (duration > 12 h), (2) within 10 days of a positive RSV test, (3) between January 2013 and December 2022. Each case was matched with five individuals never diagnosed with RSV on age, sex, region of residence, birth (pre/full term), number of siblings < 7 years old, and parents’ education. An episode of RSV was defined as the seven days prior to hospitalisation to 30 days after initial hospitalisation. Study outcomes included contacts with hospital and primary care, and total healthcare costs defined as the sum cost of hospital care, primary care, and prescription medicine. Cost and contacts attributable to RSV was calculated in a diff-in-diff framework, as the difference between case and reference group.ResultsThe study population comprised of 8,428 RSV cases and 41,725 reference individuals. Cases generated 1.58 (p < 0.001) attributable inpatient contacts, 0.84 (p < 0.001) outpatient contacts, and 1.19 (p < 0.001) primary care contacts during their RSV episode. An additional 0.6 (p < 0.001) inpatient, 1.08 (p < 0.001) outpatient and 2.42 (p < 0.001) primary care contacts were attributed to RSV in the year following the RSV episode. Total cost of an RSV episode was EUR 2,997 (p < 0.001) with an additional EUR 1,428 (p < 0.001) in the following year.ConclusionRSV hospitalisations of infants are associated with substantial healthcare utilisation and costs. The same pattern was observed in the year following the RSV episode. If the new RSV prevention options are introduced nationwide, the overall burden of RSV is expected to be substantially reduced in the future.
Revitalizing grand rounds in the time of COVID
Authors: Santhosh Lekshmi , Rosenstein Lee Anne , Wachter Robert M. 
Published: October 2024

AbstractCOVID presented an opportunity to revolutionize the traditional format of Medical Grand Rounds (MGR). In this Commentary, we explore the educational ramifications of shifting MGR virtually with a focus on COVID-related content and its long-term sustainability. This transformation offers an inclusive interdisciplinary approach to sustain learner interest and improve education.
Reducing low-value imaging - stakeholders’ assessment of an intervention to improve imaging services
Authors: Kjelle Elin , Brandsæter Ingrid Øfsti , Andersen Eivind Richter , Hofmann Bjørn Morten 
Published: October 2024

Abstract
Background
An intervention to reduce low-value magnetic resonance imaging (MRI) was designed and implemented in private imaging centres in Norway in October 2022. The intervention used return letters for poor referrals of MRI of the lower back, brain and knee at private imaging centres in Norway. The study aimed to investigate key stakeholders’ experiences and assessment of the intervention and the specific research questions were:
• How many return letters were sent during the study period?
• What were the medical directors’ and managers’ experiences with and reflection on success factors for the intervention implementation and using return letters?

Methods
The number of return letters sent was collected directly from Norway’s two main private imaging providers. Two semi-structured individual interviews were conducted with the medical directors of the imaging providers, as well as two focus group interviews with nine managers from the various private imaging centres operated by the two imaging providers.

Results
In total, 1,182 return letters were sent for patients undergoing one of the three types of MRI examinations, and the number of return letters was highest at the beginning of the intervention. The interview analysis resulted in five categories: general experience, anchoring, organisation, return letter procedure and outcome. Sufficient information, anchoring and support were identified as crucial success factors.

Conclusions
This study provides insights into the practical and crucial details of implementing interventions to reduce low-value imaging. The intervention was generally well received, and the high initial number of return letters decreased rapidly over the course of the study. Several key success factors were identified.
Searching for effective strategies to reach boys and young men; a mixed-methods study protocol for youth clinics in Sweden
Authors: Baroudi Mazen 
Published: October 2024

Abstract

Background
Efforts to engage boys and young men in sexual and reproductive health (SRH) services in Sweden remain limited, with only a small proportion accessing youth clinics, the primary providers of such services. Existing initiatives are often ad-hoc and lack institutionalization within public policy and practice. This study aims to identify feasible and effective interventions to improve boys’ and young men’s access to youth clinics in Sweden.

Methods
Employing a mixed-methods approach, this study investigates interventions, strategies, and factors influencing access to SRH services for boys and young men in Sweden. Firstly, a systematic literature review will be conducted to identify evaluated interventions globally. Secondly, strategies to attracts boys and young men in youth clinics in Sweden will be mapped. Thirdly, case studies in two regions in Sweden – chosen for their demographic and geographic diversity – will be conducted interviewing healthcare providers, managers, policymakers, and boys and young men. Lastly, Q-methodology will be used to rank all identified strategies. Healthcare providers and managers will rank these strategies based on their perceived effectiveness and feasibility while boys and young men will rank the interventions based on perceived effectiveness.

Discussion
The added value of this project is generating robust evidence regarding boys and young men’s involvement in SRH services, especially their access to youth clinics. This is crucial for (1) developing gender-sensitive services and service delivery models that effectively promote young men’s SRH; (2) informing future young men’s health policies ensuring that their unique SRH concerns are addressed; and (3) improving young men’s participation in SRH provision. This will ultimately foster a culture of shared responsibilities and advance gender equality.
Safety and pharmacokinetic properties of a new formulation of parenteral artesunate in healthy Thai volunteers
Authors: Tarning Joel , Hanboonkunupakarn Borimas , Hoglund Richard M. , Chotivanich Kesinee , Mukaka Mavuto , Pukrittayakamee Sasithon , Day Nicholas P. J. , White Nicholas J. , Dondorp Arjen M. , Jittamala Podjanee 
Published: October 2024

Abstract
Background
Parenteral artesunate is the first-line therapy for severe malaria. Artesunate, in its current formulation, must be prepared immediately before administration by first dissolving in sodium bicarbonate solution and then diluting in saline. A novel solvent for rapid and stable single step reconstitution of artesunate was recently developed showing improved solubility and stability. This study aimed to compare the safety and pharmacokinetic properties of the currently available and newly developed parenteral formulation of artesunate in healthy Thai volunteers.

Methods
This was an open-label, randomized, 4 periods, 4-treatments, 24-sequence, single-dose, cross-over study in 72 male and female healthy Thai volunteers. Frequent pharmacokinetic samples were collected in all volunteers at each dose occasion. Observed concentration–time profiles were analysed with a non-compartmental approach followed by a bioequivalence evaluation.

Results
Both intramuscular and intravenous administrations of the new parenteral formulation of artesunate were safe and well-tolerated, with no additional safety signals compared to the currently used formulation. The pharmacokinetic properties of artesunate and its active metabolite, dihydroartemisinin, were well-characterized, and showed rapid conversion of artesunate into dihydroartemisinin. Intramuscular administration of the newly formulated artesunate resulted in almost complete bioavailability of dihydroartemisinin. The pharmacokinetic properties were similar between the old and new formulation.

Conclusions
The new and more easily prepared formulation of artesunate was safe and well-tolerated, with similar pharmacokinetic properties compared to the currently used formulation. Dihydroartemisinin, the active metabolite responsible for the majority of the anti-malarial effect, showed equivalent exposure after both intravenous and intramuscular administration of artesunate, suggesting that both routes of administration should generate comparable therapeutic effects.
Trial registration: The study was registered to clinicaltrials.gov (#TCTR20170907002).