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Abstract Purpose of the study Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant condition that leads to significant disability and morbidity, characterised by the formation of heterotopic hard tissues within connective tissues. The condition has an incidence of approximately one per two million people worldwide. There is no known single effective treatment available for FOP. We report the world’s first case of a healthy infant born following in vitro fertilisation (IVF) and preimplantation genetic testing for monogenic disorder (PGT-M) using Karyomapping for FOP. Case presentation A 30-year-old Caucasian female with FOP presented with her partner seeking IVF with PGT-M to achieve a healthy pregnancy with an embryo unaffected by FOP. Methods The couple underwent IVF and PGT-M using Karyomapping as the testing method. A multi-disciplinary team approach was utilised in planning this case, considering the additional risks of oocyte retrieval, pregnancy and childbirth in women with FOP. Main findings The oocyte retrieval was covered with a 5-day course of prednisolone to reduce the risk of a localised inflammatory reaction, which could result in subsequent heterotopic ossification. This was subsequently weaned down with reducing doses every two days. The patient underwent uncomplicated oocyte retrieval, yielding 12 mature oocytes. Following intracytoplasmic sperm injection (ICSI), ten zygotes having two pro-nuclei were cultured, and six underwent trophoectoderm biopsy and vitrification 5–6 days after retrieval. PGT-M via Karyomapping revealed four out of six (66.7%) of blastocysts were not carriers of the maternal high-risk FOP allele. In total, the patient had three separate embryo transfers. Pregnancy was achieved following the third frozen embryo transfer, which went to 37 weeks’ gestation, and delivered by Caesarean section. The baby was born in excellent condition and is unaffected by FOP. Conclusion IVF/ICSI and PGT-M using Karyomapping was successfully implemented to identify embryos carrying the high-risk FOP allele resulting in a healthy livebirth.

The application of trans-arterial radioembolization (TARE) with Yttrium-90, historically a palliative treatment option for patients with advanced hepatocellular carcinoma (HCC), is evolving. Radiation segmentectomy (RADSEG), the segmental delivery of an ablative radiation dose, is a treatment option for patients with earlier-stage HCC. This review presents an in-depth exploration of RADSEG, emphasizing its technical considerations, dosimetry advancements, and patient selection. The integration of RADSEG into the Barcelona Clinic Liver Cancer (BCLC) paradigm will be highlighted. RADSEG outcomes concerning safety and efficacy will be explored and compared with traditional locoregional cancer treatments like trans-arterial chemoembolization (TACE), percutaneous thermal ablation, and surgical resection, with an eye on future directions and considerations.

Several studies have investigated muscle rigidity using SWE. However, the assessments may not consider the most affected regions within the same muscle tissue nor the intramuscular variability of rigidity between muscles of the same muscle group, e.g., plantar flexors. The data presented in this article aimed to explore the inter–and intramuscular variability of plantar flexors stiffness during prone and standing positions at different muscle lengths in healthy and paretic individuals. Shear wave ultrasound images were acquired for the three plantar flexor muscles (gastrocnemius medialis [GM], gastrocnemius lateralis [GL], and soleus [SOL]) in two positions: prone and standing. The imaging was conducted at various dorsiflexion angles (0°, 10°, and 20°), and measurements were taken at different proximo-distal regions within each muscle. This data set allowed us to highlight the impact of stroke on mechanical properties that varies depending on whether ankle muscles are in an active or passive state during dorsiflexion. Additionally, the modification of the ankle muscle state influences the distribution of stiffness both within and between the plantar flexors.

Lower extremity peripheral neuropathy is a commonly encountered neurologic disorder, which can lead to chronic pain, functional disability, and decreased quality of life for a patient. As diagnostic imaging modalities have improved, imaging has started to play an integral role in the detection and characterization of peripheral nerve abnormalities by non-invasively and accurately identifying abnormal nerves as well as potential causes of neuropathy, which ultimately leads to precise and timely treatment. Ultrasound, which has high spatial resolution and can quickly and comfortably characterize peripheral nerves in real time along with associated denervation muscle atrophy, and magnetic resonance neurography, which provides excellent contrast resolution between nerves and other tissues and between pathologic and normal segments of peripheral nerves, in addition to assessing reversible and irreversible muscle denervation changes, are the two mainstay imaging modalities used in peripheral nerve assessment. These two modalities are complimentary, and one may be more useful than the other depending on the nerve and location of pathology. Imaging must be interpreted in the context of available clinical information and other diagnostic studies, such as electrodiagnostic tests. Here, we offer a comprehensive overview of the role of high-resolution ultrasound and magnetic resonance neurography in the evaluation of the peripheral nerves of the lower extremity and their associated neuropathies.

Upper extremity entrapment neuropathies are common conditions in which peripheral nerves are prone to injury at specific anatomical locations, particularly superficial regions or within fibro-osseous tunnels, resulting in pain and potential disability. Although neuropathy is primarily diagnosed clinically by physical examination and electrophysiology, imaging evaluation with ultrasound and magnetic resonance neurography are valuable complementary non-invasive and accurate tools for evaluation and can help define the site and cause of nerve dysfunction which ultimately leads to precise and timely treatment. Ultrasound, which has higher spatial resolution, can quickly and comfortably characterize the peripheral nerves in real time and can evaluate for denervation related muscle atrophy. Magnetic resonance imaging on the other hand provides excellent contrast resolution between the nerves and adjacent tissues, also between pathologic and normal segments of peripheral nerves. It can also assess the degree of muscle denervation and atrophy. As a prerequisite for nerve imaging, radiologists and sonographers should have a thorough knowledge of anatomy of the peripheral nerves and their superficial and deep branches, including variant anatomy, and the motor and sensory territories innervated by each nerve. The purpose of this illustrative article is to review the common neuropathy and nerve entrapment syndromes in the upper extremities focusing on ultrasound and magnetic resonance neurography imaging.

Abstract Uptake and outcomes of pharmacist-initiated general practitioner (GP) referrals for patients with poorly controlled asthma were investigated. Pharmacists referred at-risk patients for GP assessment. Patients were categorized as action takers (consulted their GP on pharmacist’s advice) or action avoiders (did not action the referral). Patient clinical data were compared to explore predictors of uptake and association with health outcomes. In total, 58% of patients (n = 148) received a GP referral, of whom 78% (n = 115) were action takers, and 44% (n = 50) reported changes to their asthma therapy. Patient rurality and more frequent pre-trial GP visits were associated with action takers. Action takers were more likely to have an asthma action plan (P = 0.001) at month 12, and had significantly more GP visits during the trial period (P = 0.034). Patient uptake of pharmacist-initiated GP referrals was high and led to GP review and therapy changes in patients with poorly controlled asthma.

Von Hippel–Lindau disease (VHL) is a multisystem cancer syndrome caused by the inactivation of the VHL tumor suppressor gene and involves various organ systems including the central nervous system (CNS), endocrine system, and the kidneys. Tumors seen in patients with VHL disease can be benign or malignant and are usually multifocal, bilateral, and hypervascular in nature. As most lesions associated with VHL are asymptomatic initially, early diagnosis and the institution of an evidence-based surveillance protocol are of paramount importance. Screening, surveillance, and genetic counseling are key aspects in the management of patients diagnosed with VHL disease and often require a multidisciplinary approach and referral to specialized centers. This article will discuss the characteristic lesions seen with VHL disease, their diagnosis, screening protocols and management strategies, as well as an illustrative case to demonstrate the natural progression of the disease with classic imaging findings.

Abstract Background The success of continuing professional development (CPD) programs that foster skills in lifelong learning (LLL) has been well established. However, healthcare professionals often report barriers such as access to CPD and cost which limit uptake. Further research is required to assess how accessible CPD programs, such as those delivered virtually, impact orientation to LLL. Project Extension for Community Healthcare Outcomes (Project ECHO®) is a CPD model that has a growing body of evidence demonstrating improvements in knowledge and skills. Central to this model is the use of a virtual platform, varied teaching approaches, the promotion of multi-directional learning and provider support through a community of practice. This study aimed to explore whether participation in a provincial mental health ECHO program had an effect on interprofessional healthcare providers’ orientation to LLL. Methods Using a pre-post design, orientation to LLL was measured using the Jefferson Scale of Lifelong Learning. Eligible participants were healthcare professionals enrolled in a cycle of ECHO Ontario Mental Health from 2017 to 2020. Participants were classified as ‘high’ or ‘low’ users using median session attendance as a cut-point. Results The results demonstrate an increase in orientation to LLL following program participation (Pre: 44.64 ± 5.57 vs. Post: 45.94 ± 5.70, t (66) = − 3.023, p

Background Early detection of obesity-promoting dietary behavior patterns improves the identification of at-risk families and the implementation of interventions. This is accomplished through the use of the Child Eating Behavior Questionnaire (CEBQ). No study has been conducted using the CEBQ in children followed in Essonne's Maternal–Infant Protection (PMI) centers. We investigated, in a cross-sectional design, the differences in children's eating behavior with PMI follow-up according to their weight status. Methods A questionnaire addressed to parents was collected in PMI centers. Multiple hierarchical regression analysis was used to investigate the predictability of the child's CEBQ on body mass index (BMI). Results From January to April 2022, 850 children were selected, from which 500 (aged 1–6 years) were included, and of whom 10.6% were obese. There was a significant positive association between 'Food Responsiveness', 'Enjoyment of Food' and BMI. In contrast, there was a significant negative association between 'Satiety Responsiveness', 'Slowness in Eating' and BMI. Besides, 'Food approach' and 'food avoidance' behaviors were positively and negatively related to BMI z-scores, respectively. Conclusion Due to significant differences in children's eating behavior according to their weight, it is needed to raise awareness among parents about their impact on them. [ABSTRACT FROM AUTHOR]

During the first week of development, human embryos form a blastocyst composed of an inner cell mass and trophectoderm (TE) cells, the latter of which are progenitors of placental trophoblast. Here, we investigated the expression of transcripts in the human TE from early to late blastocyst stages. We identified enrichment of the transcription factors GATA2, GATA3, TFAP2C and KLF5 and characterised their protein expression dynamics across TE development. By inducible overexpression and mRNA transfection, we determined that these factors, together with MYC, are sufficient to establish induced trophoblast stem cells (iTSCs) from primed human embryonic stem cells. These iTSCs self-renew and recapitulate morphological characteristics, gene expression profiles, and directed differentiation potential, similar to existing human TSCs. Systematic omission of each, or combinations of factors, revealed the crucial importance of GATA2 and GATA3 for iTSC transdifferentiation. Altogether, these findings provide insights into the transcription factor network that may be operational in the human TE and broaden the methods for establishing cellular models of early human placental progenitor cells, which may be useful in the future to model placental-associated diseases. [ABSTRACT FROM AUTHOR]

Abstract Background Project ECHO is a virtual education model aimed at building capacity among healthcare providers to support optimal management for a range of health conditions. The expansion of the ECHO model, further amplified by the pandemic, has demonstrated an increased need to evaluate implementation success to ensure that interventions are implemented as planned. This study describes how Proctor et al.’s implementation outcomes (acceptability, adoption, appropriateness, costs, feasibility, fidelity, penetration, and sustainability) were adapted and used to assess the implementation of ECHO Ontario Mental Health (ECHO-ONMH), a mental health-focused capacity-building programme. Methods Using Proctor et al.’s implementation outcomes, the authors developed an implementation outcomes framework for ECHO-ONMH more generally. Using this, outcome measures and success thresholds were identified for each outcome for the ECHO-ONMH context, and then applied to evaluate the implementation of ECHO-ONMH using data from the first 4 years of the programme. Results An ECHO-ONMH implementation outcomes framework was developed using Proctor’s implementation outcomes. ECHO-ONMH adapted implementation outcomes suggest that ECHO-ONMH was implemented successfully in all domains except for penetration, which only had participation from 13/14 regions. Acceptability, appropriateness and adoption success thresholds were surpassed for all 4 years, showing strong signs of sustainability. The programme was deemed feasible all 4 years and was found to be more cost-effective. ECHO-ONMH also showed high rates of fidelity to the ECHO model, and high rates of penetration. Conclusions This is the first study to use Proctor et al.’s implementation outcomes to describe implementation success for a virtual capacity-building model. The proposed ECHO implementation outcomes framework provides a base for similar interventions to evaluate implementation success, which is an important precursor to understanding learning, service or health outcomes related to the model. Additionally, these findings can act as a benchmark for other international ECHOs and educational programmes.

The construction of the Iron Age Mediterranean chronology began in the Levant based on historical evidence and has been additionally supported in recent decades by means of radiocarbon analysis, although with variable precision and ratification. It is only in recent years that new evidence in the Aegean and the western Mediterranean has opened discussion towards its further acceptance as an authoritative i.e. highly reliable, and widely applicable historiographic network. Altogether, the Mediterranean Iron Age chronology has only undergone minor changes during the last hundred years. The Phoenician metropolis of Sidon in southern Lebanon now provides a new, large and robust dataset obtained through a combination of archaeological and 14C-radiometric analysis of materials from stratified contexts that allow their statistical assessment. The appearance of substantial amounts of pottery of Greek, Cypriot and Egyptian origin together with Phoenician local wares in a long stratigraphy is a benefit for the synchronisation of regional pottery styles and allows wider geographic correlation of relative chronological systems. The close association of the archaeological data with a long series of AMS-14C-dates on short-lived samples provides new evidence for the absolute dating of many of the regional pottery styles that are represented in the stratigraphy of Sidon, and contributes towards a considerable improvement of the Mediterranean chronology.

BackgroundThe COVID-19 pandemic disrupted the delivery of diabetes care and worsened mental health among many patients with type 2 diabetes (T2D). This disruption puts patients with T2D at risk for poor diabetes outcomes, especially those who experience social disadvantage due to socioeconomic class, rurality, or ethnicity. The appropriate use of communication technology could reduce these gaps in diabetes care created by the pandemic and also provide support for psychological distress. ObjectiveThe purpose of this study is to test the feasibility of an innovative co-designed Technology-Enabled Collaborative Care (TECC) model for diabetes management and mental health support among adults with T2D. MethodsWe will recruit 30 adults with T2D residing in Ontario, Canada, to participate in our sequential explanatory mixed methods study. They will participate in 8 weekly web-based health coaching sessions with a registered nurse, who is a certified diabetes educator, who will be supported by a digital care team (ie, a peer mentor, an addictions specialist, a dietitian, a psychiatrist, and a psychotherapist). Assessments will be completed at baseline, 4 weeks, and 8 weeks, with a 12-week follow-up. Our primary outcome is the feasibility and acceptability of the intervention, as evident by the participant recruitment and retention rates. Key secondary outcomes include assessment completion and delivery of the intervention. Exploratory outcomes consist of changes in mental health, substance use, and physical health behaviors. Stakeholder experience and satisfaction will be explored through a qualitative descriptive study using one-on-one interviews. ResultsThis paper describes the protocol of the study. The recruitment commenced in June 2021. This study was registered on October 29, 2020, on ClinicalTrials.gov (Registry ID: NCT04607915). As of June 2022, all participants have been recruited. It is anticipated that data analysis will be complete by the end of 2022, with study findings available by the end of 2023. ConclusionsThe development of an innovative, technology-enabled model will provide necessary support for individuals living with T2D and mental health challenges. This TECC program will determine the feasibility of TECC for patients with T2D and mental health issues. Trial RegistrationClinicalTrials.gov NCT04607915; https://clinicaltrials.gov/ct2/show/NCT04607915 International Registered Report Identifier (IRRID)DERR1-10.2196/39724

IntroductionAsthma has substantial and increasing health and economic burden worldwide. This study aimed to estimate healthcare expenditure and determine the factors that increase expenditure in Australians with poorly controlled asthma.MethodsIndividuals ≥18 years of age with poorly controlled asthma, as determined by a score ≥1.5 on the Asthma Control Questionnaire, were included in the study. Healthcare utilization costs from medical services and medications were estimated over an average follow-up of 12 months from administratively linked data: the Medicare Benefits Schedule and Pharmaceutical Benefits Scheme. A generalized linear model with gamma distribution and log link was used to predict participants' key baseline characteristics associated with variations in healthcare costs.ResultsA total of 341 participants recruited through community pharmacies were included. The mean (standard deviation, SD) age of participants was 56.6 (SD 17.6) years, and approximately 71% were females. The adjusted average monthly healthcare expenditure per participant was $AU386 (95% CI: 336, 436). On top of the average monthly costs, an incremental expenditure was found for each year increase in age ($AU4; 95% CI: 0.78, 7), being unemployed ($AU201; 95% CI: 91, 311), one unit change in worsening quality of life ($AU35; 95% CI: 9, 61) and being diagnosed with depression and anxiety ($AU171; 95% CI: 36, 306).ConclusionsIn a cohort of Australian patients, characterized by poor asthma control and co-morbidities individuals impose substantial economic burden in terms of Medicare funded medical services and medications. Programs addressing strategies to improve the quality of life and manage co-morbid anxiety and depression and encourage asthma patients' engagement in clinically tolerable jobs, may result in significant cost savings to the health system.

Solitary fibrous tumor is neoplasm of mesenchymal origin commonly involving visceral pleura however we are presenting an unusual case with involvement of urinary bladder. It is generally indolent in nature therefore proper diagnosis is required for complete characterization to avoid unnecessary extensive surgical resection. Our patient was a 64-year-old female who presented with lower abdominal fullness with change in her bowel movement pattern. On imaging partially necrotic mass with heterogenous enhancement was found which was later biopsied and resected with clean surgical margin. Solitary fibrous tumor is overall a benign tumor with satisfactory outcome. Physicians should keep it in a differential of pelvic masses and with the risk recurrence, 6 monthly follow up imaging are usually required after resection.