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This study connects to an ongoing discussion about the limits and affordances of simulators as realistic and relevant contexts for professional learning, in this case in the development of visual expertise. Earlier studies of simulator-based maritime pilot training conclude that there are risks associated with so-called negative skills transfer due to a lack of photorealism in simulator environments. The aim of this study is to carefully examine how visual expertise develops in and through training in a simulated environment. Through a practice-based approach to the development of visual expertise, and by using qualitative interaction analysis of video recorded training sessions, the analytical focus is directed towards maritime pilot trainees' talk about imperfections and inconsistencies in the virtual environment during exercises in a high-fidelity bridge simulator. Considering the multi-layered nature of the maritime pilot's visual expertise, findings show that the maritime pilots in training noticed and adapted to the specific methodological and technological challenges when manoeuvring a simulated vessel. During such reflection-in-action, they also commented on and explored the differences between, navigating in a simulator, on the one hand, and, on the other hand, navigating on board a ship. Instead of concluding that there is a risk for negative skills transfer that follows from the differences between the two contexts of navigating, we argue that the challenges introduced by representations encountered when training in a virtual environment may add to the expertise of the trainees and lead to enriched conceptual, methodological, and technical knowledge regarding the specificities of visually demanding and ambiguous navigation situations. In this way, this study contributes to advance our understanding of learning in virtual environments to the frontline of learning research.

Abstract Introduction Fine-needle aspiration cytology (FNAC) is an effective tool in the diagnostic work-up of patients with thyroid nodules. The aim of our study was to assess the diagnostic sensitivity of FNAC in thyroid cancer (TC) in Sweden by correlating the findings of preoperative FNAC with those obtained through final histology of the surgical specimen. Methods A Swedish nationwide cohort of patients having surgery for TC (n = 2519) from the Scandinavian Quality Register for Thyroid, Parathyroid and Adrenal surgery between 2004 and 2013 was obtained. Data was validated through scrutinizing patient FNAC and histology reports. Results Among the 2519 cases operated with a final diagnosis of TC, the diagnosis was substantiated and validated through the histology report in 2332 cases (92.6%), included in the present study. Among these, 1679 patients (72%) were female and the median age at TC diagnosis was 52.3 years (range 18-94.6). In 353 cases (15.1%) FNAC was not performed at all; whereas in the remaining 1965 cases, the diagnostic sensitivity of FNAC was 81.6%. In lesions > 1 cm, FNAC diagnostic sensitivity reached 86.5%, whereas in lesions 1 cm, the diagnostic sensitivity of US-guided FNAC (n = 1504) was 86.9% as compared to 76.9% in clinically applied FNAC without US utilization (n = 118). Conclusions FNAC is performed in most patients operated for TC in Sweden (85%) and retains its value as a tool in TC diagnostic work-up with an overall sensitivity of 82%, reaching 87% in lesions > 1 cm, that harbor clinically relevant TC.

Abstract Many applications are suggested for Ti‐MXene motivating strong interest in studies of Ti3C2Tx synthesis by solution‐based methods. However, so far only ex situ studies of the synthesis are performed, mostly due to the difficulty of handling HF‐based solutions. Here the first time‐resolved in situ synchrotron radiation X‐ray Diffraction study of MXene synthesis performed using a plastic capillary‐size reaction cell directly in HF solution is reported. This study provides the first report on the structure of “pristine MXene” formed by Ti3AlC2 etching with LiF+HCl. The term “pristine” refers to the MXene structure found directly in HF solution. By comparing the interlayer distances of pristine MXene (≈13.5 Å), solvent‐free Li‐intercalated MXene (≈12.2 Å), and Li‐free MXene (≈10.7 Å), it can be concluded that the width of “slit pores” formed by terminated MX layers during the Al etching does not exceed ≈3 Å. The width of these slit pores is a key factor for HF etching of Al within the interlayers. This space constraint explains the slow kinetics of MXene formation in HF‐based synthesis methods. No intermediate phases are observed, suggesting that the crystalline MXene phase is formed by the simultaneous etching of Al and termination of Ti3C2 layers.

Abstract Swelling is the most fundamental property of graphite oxides (GO). Here, a structural study of Brodie graphite oxide (BGO) swelling in a set of long chain 1‐alcohols (named C11 to C22 according to the number of carbons) performed using synchrotron radiation X‐ray diffraction at elevated temperatures is reported. Even the longest of tested alcohols (C22) is found to intercalate BGO with enormous expansion of the interlayer distance from ≈6Å up to ≈63Å, the highest expansion of GO lattice ever reported. Swelling transitions from low temperature α‐phase to high temperature β‐phase are found for BGO in all alcohols in the C11–C22 set. The transitions correspond to decrease of inter‐layer distance correlating with the length of alcohol molecules, and change in their orientation from perpendicular to GO planes to layered parallel to GO (Type II transitions). These transitions are very different compared to BGO swelling transitions (Type I) found in smaller alcohols and related to insertion/de‐insertion of additional layer of alcohol parallel to GO. Analysis of general trends in the whole set of 1‐alcohols (C1 to C22) shows that the 1‐alcohol chain length defines the type of swelling transition with Type I found for alcohols with C10.

Background Complications are frequently reported after hypospadias repair and there is a need to understand the factors that influence their occurrence.Methods Data from boys with hypospadias born between 2000 and 2020 were obtained from the International Disorders of Sex Development (I-DSD) Registry. Logistic regressions, fisher’s exact tests and spearman’s correlation tests were performed on the data to assess associations between clinical factors and complication rates.Results Of the 551 eligible boys, data were available on 160 (29%). Within the cohort, the median (range) External Masculinization Score (EMS) was 6 (2, 9). All presented with one or more additional genital malformation and 61 (38%) presented with additional extragenital malformations. Disorders of androgen action, androgen synthesis and gonadal development were diagnosed in 28 (18%), 22 (14%) and 9 (6%) boys, respectively. The remaining 101 (62%) patients were diagnosed as having non-specific 46,XY Disorders of Sex Development. Eighty (50%) boys had evidence of abnormal biochemistry, and gene variants were identified in 42 (26%). Median age at first hypospadias surgery was 2 years (0, 9), and median length of follow-up was 5 years (0, 17). Postsurgical complications were noted in 102 (64%) boys. There were no significant associations with postsurgical complications.Conclusions Boys with proximal hypospadias in the I-DSD Registry have high rates of additional comorbidities and a high risk of postoperative complications. No clinical factors were significantly associated with complication rates. High complication rates with no observable cause suggest the involvement of other factors which need investigation.

Patient journeys are instruments developed by EURORDIS, The Voice of Rare Disease Patients in Europe, to collect patients’ experiences; they may identify gaps and areas deserving improvement, as well as elements positively considere d by affected persons. As with other patient-reported experiences, they can complete the clinical evaluation and management of a specific disease, improving the often long diagn ostic delay, therapy, patient education and access to knowledgeable multidisciplinary teams. This review discusses the utility of such patient-reported experience measures and summarises the experiences of patients with acromegaly, Addison’s disease and congenital adrenal hyperplasia from different European countries. Despite rare endo crine diseases being varied and presenting differently, feelings of not having been t aken seriously by health professionals, family and friends was a common patient complaint. Empathy and a positive patient-centred environment tend to improve clinical practice by creating a trustworthy and understanding atmosphere, where individual patient needs ar e considered. Offering access to adequate patient information on their disease, treatments and outcome helps to adapt to living with a chronic disease and what to expect in the future, contemplating the impact of a disease on patients’ everyday life, not only clinical outcome but also social, financial, educational, family and leisure issues is des irable; this facilitates more realistic expectancies for patients and can even lead to a reduction in health costs. Patient empowerment with patient-centred approaches to these complex or chronic diseases should be contemplated more and more, not only for the benefit o f those affected but also for the entire health system.

A plethora of negative long-term outcomes have been associated with congenital adrenal hyperplasia (CAH). The causes are multiple and involve supra-physiological gluco- and mineralocorticoid replacement, excess adrenal androgens both intrauterine and postnatal, elevated steroid precursor and adrenocorticotropic hormone levels, living with a congenital condition as well as the proximity of the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene to other genes. This review aims to discuss the different long-term outcomes of CAH.

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a rare genetic condition that results in cortisol deficiency and excess production of adrenal androgens. While the introduction of newborn screening for CAH has reduced morbidity and mortality, management of CAH remains challenging. Lifelong treatment with glucocorticoids is required to replace the endogenous cortisol deficiency and reduce excess adrenal androgens. Undertreatment or overtreatment with glucocorticoids can lead to multiple disease- and treatment-related comorbidities, including impaired growth and compromised final height, menstrual irregularities and reduced fertility in females, and long-term cardiometabolic complications. In addition to avoiding adrenal crisis and sudden death, treatment goals in adolescent females with CAH are to obtain normal growth and bone maturation and normal timing of puberty. Management of adolescents is particularly challenging due to changes in growth and sex hormone levels that can lead to inadequate suppression of adrenal androgens and increasing independence that can affect treatment adherence. During the transition to adult care, treatment goals focus on preventing symptoms of hyperandrogenism, preserving menstrual regularity and fertility, and providing education and support for issues related to sexuality, atypical genitalia, and/or complications from previous surgical treatment. In addition, patients must be monitored continuously to prevent long-term complications such as decreased bone mineral density, obesity, diabetes, and hypertension. In this review, we discuss the challenges faced by adolescent and adult females with CAH and provide guidance to health-care professionals to help patients to navigate these challenges. [ABSTRACT FROM AUTHOR]

Abstract Very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD) is a recessive disorder of fatty acid beta‐oxidation with variable phenotype. Patients may present during the neonatal period with lethal multi‐organ failure or during adulthood with a myopathic phenotype. VLCADD is included in the Swedish newborn screening (NBS) program since 2010. The study describes the phenotype and biochemical findings in relation to the genotype, enzyme activity, and screening data in a Swedish cohort of pediatric patients with VLCADD. A total of 22 patients (20 diagnosed via NBS between 2010 and 2019, two diagnosed pre NBS) were included. Parameters analyzed were enzyme activity (palmitoyl CoA oxidation rate); ACADVL genotype; NBS results including Collaborative Laboratory Integrated Reports (CLIR) score; biochemical findings; treatment; clinical outcome. A clinical severity score (CSS) was compiled using treatment interventions and clinical symptoms. A possible correlation between CSS and VLCAD residual enzyme activity and NBS CLIR score was analyzed. The most common ACADVL variant (c.848T>C) was identified in 24/44 alleles. Five novel variants were detected. Clinical manifestations varied from asymptomatic to severe. There was a correlation between CSS, residual enzyme activity, and CLIR scores. Most patients diagnosed via NBS had less severe disease compared to those clinically diagnosed. In conclusion, the identified correlation between the NBS CLIR score, residual enzyme activity, and clinical outcome suggests that information available neonatally may aid in treatment decisions.

Abstract Inborn errors of mitochondrial fatty acid oxidation (FAO), such as medium‐chain acyl‐CoA dehydrogenase deficiency (MCAD) and very long‐chain acyl‐CoA dehydrogenase deficiency (VLCAD) affects cellular function and whole‐body metabolism. Carnitine uptake deficiency (CUD) disturbs the transportation of fatty acids into the mitochondria, but when treated is a mild disease without significant effects on FAO. For improved clinical care of VLCAD in particular, estimation of FAO severity could be important. We have investigated whether the oxygen consumption rate (OCR) of peripheral blood mononuclear cells (PBMCs) obtained from patients with MCAD, VLCAD, and CUD can be used to study cellular metabolism in patients with FAO defects and to determine the severity of FAO impairment. PBMCs were isolated from patients with VLCAD (n = 9), MCAD (n = 5–7), and CUD (n = 5). OCR was measured within 6‐hours of venous puncture using the Seahorse XFe96. The PBMCs were exposed to glucose alone or with caprylic acid (C8:0) or palmitic acid (C16:0). OCR was significantly lower in cells from patients with β‐oxidation deficiencies (MCAD and VLCAD) compared to CUD at basal conditions. When exposed to C16:0, OCR in VLCAD cells was unchanged, whereas OCR in MCAD cells increased but not to the levels observed in CUD. However, C8:0 did not increase OCR, as would be expected, in VLCAD cells. There was no clear relationship between clinical severity level and OCR. In patients with β‐oxidation deficiencies, changes of mitochondrial respiration in PBMCs are detectable, which indicate that PBMCs have translational potential for studies of β‐oxidation defects. However, further studies are warranted.

Abstract Background Turner syndrome is the result of the partial or complete absence of an X chromosome in phenotypic girls. This can cause an array of medical and developmental difficulties. The intelligence quotient in females with Turner syndrome has previously been described as uneven, but considered within normal range. Although their social, intellectual, and psychiatric profile is described, it is unclear to what extent these females meet the clinical criteria for neurodevelopmental or psychiatric diagnoses. The aim of this study was to examine the prevalence of neurodevelopmental and psychiatric disorders in females with Turner syndrome. Methods A retrospective cohort study was performed with a total of 1392 females with Turner syndrome identified through the Swedish National Patient Register and compared with 1:100 age- and sex-matched controls from the general population. The associations between Turner syndrome and diagnoses of neurodevelopmental and/or psychiatric disorders were calculated using conditional logistic regression and is presented as estimated risk (odds ratio, OR, 95% confidence interval, CI) in females with Turner syndrome compared with matched controls. Results Females with Turner syndrome had a higher risk of neurodevelopmental or psychiatric disorder (OR 1.37, 95% CI 1.20–1.57), an eightfold increased risk of intellectual disability (OR 8.59, 95% CI 6.58–11.20), and a fourfold increased risk of autism spectrum disorder (OR 4.26, 95% CI 2.94‑6.18) compared with the controls. In addition, females with Turner syndrome had twice the risk of a diagnosis of schizophrenia and related disorders (OR 1.98, 95% CI 1.36–2.88), eating disorders (OR 2.03, 95% CI 1.42–2.91), and behavioral and emotional disorders with onset in childhood (OR 2.01, 95% CI 1.35–2.99). Conclusions Females with Turner syndrome have an increased risk of receiving a diagnosis of neurodevelopmental or psychiatric disorder. This warrants extensive assessment of intellectual and cognitive functions from early age, and increased psychiatric vigilance should be a part of lifelong healthcare for females with Turner syndrome.

Deep Brain Stimulation (DBS) is an effective treatment for advanced Parkinson’s disease. However, identifying stimulation parameters, such as contact and current amplitudes, is time-consuming based on trial and error. Directional leads add more stimulation options and render this process more challenging with a higher workload for neurologists and more discomfort for patients. In this study, a sweet spot-guided algorithm was developed that automatically suggested stimulation parameters. These suggestions were retrospectively compared to clinical monopolar reviews. A cohort of 24 Parkinson’s disease patients underwent bilateral DBS implantation in the subthalamic nucleus at our center. First, the DBS’ leads were reconstructed with the open-source toolbox Lead-DBS. Second, a sweet spot for rigidity reduction was set as the desired stimulation target for programming. This sweet spot and estimations of the volume of tissue activated were used to suggest (i) the best lead level, (ii) the best contact, and (iii) the effect thresholds for full therapeutic effect for each contact. To assess these sweet spot-guided suggestions, the clinical monopolar reviews were considered as ground truth. In addition, the sweet spot-guided suggestions for best lead level and best contact were compared against reconstruction-guided suggestions, which considered the lead location with respect to the subthalamic nucleus. Finally, a graphical user interface was developed as an add-on to Lead-DBS and is publicly available. With the interface, suggestions for all contacts of a lead can be generated in a few seconds. The accuracy for suggesting the best out of four lead levels was 56%. These sweet spot-guided suggestions were not significantly better than reconstruction-guided suggestions (p = 0.3). The accuracy for suggesting the best out of eight contacts was 41%. These sweet spot-guided suggestions were significantly better than reconstruction-guided suggestions (p < 0.001). The sweet spot-guided suggestions of each contact’s effect threshold had a mean error of 1.2 mA. On an individual lead level, the suggestions can vary more with mean errors ranging from 0.3 to 4.8 mA. Further analysis is warranted to improve the sweet spot-guided suggestions and to account for more symptoms and stimulation-induced side effects.

Many applications are suggested for Ti‐MXene motivating strong interest in studies of Ti3C2Tx synthesis by solution‐based methods. However, so far only ex situ studies of the synthesis are performed, mostly due to the difficulty of handling HF‐based solutions. Here the first time‐resolved in situ synchrotron radiation X‐ray Diffraction study of MXene synthesis performed using a plastic capillary‐size reaction cell directly in HF solution is reported. This study provides the first report on the structure of "pristine MXene" formed by Ti3AlC2 etching with LiF+HCl. The term "pristine" refers to the MXene structure found directly in HF solution. By comparing the interlayer distances of pristine MXene (≈13.5 Å), solvent‐free Li‐intercalated MXene (≈12.2 Å), and Li‐free MXene (≈10.7 Å), it can be concluded that the width of "slit pores" formed by terminated MX layers during the Al etching does not exceed ≈3 Å. The width of these slit pores is a key factor for HF etching of Al within the interlayers. This space constraint explains the slow kinetics of MXene formation in HF‐based synthesis methods. No intermediate phases are observed, suggesting that the crystalline MXene phase is formed by the simultaneous etching of Al and termination of Ti3C2 layers. [ABSTRACT FROM AUTHOR]

Context Contemporary patients with primary hyperparathyroidism are diagnosed with milder disease than previously. Clinical and biochemical factors predictors with an impact on fracture incidence and bone mineral density after surgery have not been firmly established. Objective To investigate predictors of fracture incidence and bone mineral density preoperatively and after surgery for primary hyperparathyroidism (pHPT). Design Prospectively collected surgical cohort with matched population controls. Data were cross-linked with the Swedish National Patient Register, the Prescribed Drug Register, and the Cause of Death Register. Setting Tertiary referral center. Patients or other participants Seven hundred nine patients with successful parathyroidectomy for pHPT and 2112 controls matched on sex, age, and municipality were included in the study. Main outcome measures Fracture incidence, absolute change, and ≥2.77% increase in bone mineral density of femoral neck, L2–L4, and distal third of radius at 1-year follow-up. Results Patients with pHPT had an increased fracture incidence before surgery but not after pHPT surgery. Fracture incidence after surgery was inversely related to preoperative 24-hour urine calcium (incidence rate ratio for the highest tertile 220– mg/d 0.29, 95% confidence interval 0.11-0.73). Serum and 24-hour urine calcium, parathyroid hormone, osteocalcin, and adenoma weight were all associated with bone mineral density recovery after surgery. Conclusion Twenty-four-hour urine calcium is the most important biochemical variable to predict a decreased fracture incidence and improved bone mineral density after surgery for pHPT. [ABSTRACT FROM AUTHOR]

Introduction Fine-needle aspiration cytology (FNAC) is an effective tool in the diagnostic work-up of patients with thyroid nodules. The aim of our study was to assess the diagnostic sensitivity of FNAC in thyroid cancer (TC) in Sweden by correlating the findings of preoperative FNAC with those obtained through final histology of the surgical specimen. Methods A Swedish nationwide cohort of patients having surgery for TC (n = 2519) from the Scandinavian Quality Register for Thyroid, Parathyroid and Adrenal surgery between 2004 and 2013 was obtained. Data was validated through scrutinizing patient FNAC and histology reports. Results Among the 2519 cases operated with a final diagnosis of TC, the diagnosis was substantiated and validated through the histology report in 2332 cases (92.6%), included in the present study. Among these, 1679 patients (72%) were female and the median age at TC diagnosis was 52.3 years (range 18-94.6). In 353 cases (15.1%) FNAC was not performed at all; whereas in the remaining 1965 cases, the diagnostic sensitivity of FNAC was 81.6%. In lesions > 1 cm, FNAC diagnostic sensitivity reached 86.5%, whereas in lesions < 1 cm, FNAC yielded a sensitivity of 61.5%. Approximately 85% of FNACs (n = 1981/2332) were performed using ultra-sonographic (US) guidance. In TC lesions > 1 cm, the diagnostic sensitivity of US-guided FNAC (n = 1504) was 86.9% as compared to 76.9% in clinically applied FNAC without US utilization (n = 118). Conclusions FNAC is performed in most patients operated for TC in Sweden (85%) and retains its value as a tool in TC diagnostic work-up with an overall sensitivity of 82%, reaching 87% in lesions > 1 cm, that harbor clinically relevant TC. [ABSTRACT FROM AUTHOR]

Countless papers have been published regarding the management and clinical outcome of vesicoureteral reflux (VUR), still no active treatment has been proven superior to another, regarding preserving renal function. When considering comparable treatment alternatives, qualitative research is needed to understand the parents' perspectives and preferences. This study aims to describe the parents' experiences of infant high-grade VUR (hVUR) regarding continuous antibiotic prophylaxis (CAP), surgical intervention (SI), urinary tract infection (UTI) and renal damage. We performed four randomized, semi-structured focus groups (FG) with 19 parents to 15 children (aged 1,5–6 years). All children had been diagnosed with hVUR at <8 months of age and treated with CAP (all groups) and SI (two groups). Discussions were recorded, transcribed and analysed to content. The sample size for the FGs was based on category saturation, which was confirmed through comparison analysis in multiple FGs. The FGs generated 2,897 parent-reported experiences, of which this study reports on 1,123, sorted into the abovementioned four themes and underlying categories. Negative experiences regarding CAP, such as stress regarding the daily intake and worries about long-term use and side effects, were abundant, whereas positive experiences were few. The experiences regarding SI were negatively affected by inadequate information and postoperative difficulties and positively by empathy, accurate information and adequate preparations. The increased risk of UTIs were described as a constant emotional stress causing restricted social activities, frequent visits to the hospital and challenges regarding urine-sampling. There was a common awareness of renal damage, but few experiences reflected any actual worry. The daily struggle with medications and monitoring for symptoms, concerns of future antibiotic resistance and a parental preference of SI have been documented in previous studies. FG methodology effectively collects data from several participants during the same occasion, the goal being to generate discussions that enable researchers to see the world from the participants' perspective. Since the management of infants with hVUR is still under debate, qualitative research can remind of valuable patient and parent perspectives. This study shows that CAP and the risk of UTI have non-negligible, everyday impact on family life, while renal damage seems of secondary importance. The concerns of surgical treatment are related to an isolated occasion, which can be optimized with proper care and improved preoperative preparations. Awareness of parents' experiences and preferences is helpful when managing children with hVUR. Summary table Summary table Themes and categories n = 1123 statements Parents' experiences of continuous antibiotic prophylaxis, CAP n=320 Emotional impact n = 140 (44%) Concerns about the effect of CAP n = 96 (30%) Influence of CAP intake n = 84 (26%) Parents' experiences of surgical intervention, SI n=182 Difficulties in surgical care n = 94 (52%) Qualities in surgical care n = 88 (48%) Parents' experiences of urinary tract infection (UTI) n=535 Family impact due to the child's UTI n = 273 (51%) Emergency care at suspected UTI of the child n = 131 (24%) Obstacles and facilitators of sampling and testing of urine n = 131 (24%) Parents' experiences of renal damage n=86 Risk of renal damage n = 86 (100%) [ABSTRACT FROM AUTHOR]