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Kirsten Lerum Indrebø,1 Anny Aasprang,2 Torill Elin Olsen,3 John Roger Andersen2,4 1Department of Surgery, Førde Central Hospital, Førde, Norway; 2Western Norway University of Applied Sciences, Førde, Norway; 3Department of Surgery, Haukeland University Hospital, Bergen, Norway; 4Centre of Health Research, Førde Hospital Trust, Førde, NorwayCorrespondence: Kirsten Lerum IndrebøDepartment of Surgery, Førde Central Hospital, Svanehaugvegen 1, Førde, 6812, NorwayTel +047 578392807Email kirsten.lerum.indrebo@helse-forde.noBackground: The Ostomy Adjustment Scale (OAS), which consists of an overall sum score along with 34 single-item scores, has been frequently used to measure self-reported adjustment to life with an ostomy. However, it is unknown whether the OAS can be divided into meaningful thematic subscales that may make it easier to administer and to apply in a clinical feedback system.Purpose: The purpose of this study was to specify thematic OAS subscales and evaluate their psychometric properties.Patients and Methods: A cross-sectional study was conducted with 302 patients across Norway having colostomy, ileostomy, or urostomy. The OAS items were divided into different subscales by expert nurses and patients based on clinical and theoretical considerations. The overall structural validity of this analysis of the OAS was examined using robust confirmatory factor analysis. We evaluated the overall goodness of fit using the root mean square error of approximation (RMSEA), the comparative fit index (CFI) and the Tucker–Lewis index (TLI). Factor loadings from the confirmatory factor analysis were used to calculate composite reliability values for the new OAS scales.Results: The OAS was divided into seven subscales. The overall structure validity was acceptable with RMSEA = 0.053 (90% CI, 0.045– 0.060), CFI = 0.913 and TLI = 0.904. The composite reliability values of all scales were > 0.70.Conclusions: The OAS can be divided into seven clinically meaningful subscales with acceptable psychometric properties.Trial Register: ClinicalTrials.gov Registration Number: NCT03841071. Date 18. February 2019 retrospectively registered.Keywords: ostomy, adjustment, clinical feedback system, CFS, patient reported outcomes, PRO, factor analysis, outpatient ostomy follow-up

Cryptorchidism in males constitutes a notable risk factor for both infertility and testicular cancer. Infertility in adulthood is closely linked to the germ cell status in childhood. Furthermore, the significance of germ cell status is important as more than 95% of all reported testicular malignancies are germ cell tumors. The review aims to elucidate the pathogenesis of germ cells in cryptorchid testes concerning their association with infertility and testicular malignancies. Impaired germ cell numbers are evident in cryptorchid testes even during antenatal and neonatal stages. In cryptorchidism there is a rapid decline in germ cell number within the first year of life, partially attributed to physiologic gonocyte apoptosis. Additionally, germ cells fail to differentiate normally during mini-puberty leading to reduced germ cell proliferation and delayed clearance of gonocytes from the seminiferous epithelium. Absence of germ cells in testicular biopsies occurs already 10 months of age and germ cell deterioration progressively worsens with approximately 50% of persisting cryptorchid testes lacking germ cells during puberty. The deficient germ cell maturation and proliferation leads to later infertility. Elevated temperature in the cryptorchid testes and also hormonal deficiency contribute to this phenomenon. Germ cell neoplasia in situ (GCNIS) originating during fetal development may manifest in rare cases associated with disorders of sexual development, chromosomal abnormalities in boys, specific syndromes, and teratomas that include cryptorchidism. In adults, the presence of GCNIS predominantly represents a new histology pattern before invasive germ cell cancer is demonstrated and is neither congenital nor related to abnormal gonocyte transformation., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (Copyright © 2024 Thorup, Hildorf, Hildorf, Baastrup, Mamsen, Andersen, Olsen and Cortes.)

Aims: To explore the associations between sociodemographic and clinical data, the patient's knowledge and skills, and relationship to healthcare professionals with leakage from an ostomy., Design: Cross-sectional., Methods: This study included 160 patients with a colostomy, ileostomy, or urostomy. Leakage was the dependent variable and was assessed by self-report. Sociodemographic and clinical data and the Ostomy Adjustment Scale subscores, 'knowledge and skills' and 'health care professionals' were independent variables. Spearman's rho and multivariate partial least squares regression analysis were used to estimate possible factors associated with leakage., Results: Of the participants, 13.8% had leakage weekly or more often, 16.3% more often than once a month and 37, 5% had leakage more seldom than once a month. The most important risk factors for leakage were (1) having an ostomy placement that does not meet international guidelines, (2) not having an optimal relationship with health professionals, (3) having a diagnosis other than cancer, (4) not having proper knowledge and skills in ostomy care, (5) not having a colostomy, (6) having a convex baseplate, (7) having an oval ostomy, and (8) being dependent on others for ostomy care. The independent variables in the PLS- model explained 31% of the variance in leakage., Patient or Public Contribution: We thank the patients in the user panel for their help during the study., (© 2023 The Authors. Nursing Open published by John Wiley & Sons Ltd.)

Introduction: SARS-CoV-2 infection during pregnancy may cause viral inflammation of the placenta, resulting in fetal demise even without fetal or newborn infection. The impact of timing of the infection and the mechanisms that cause fetal morbidity and mortality are not well understood., Material and Methods: To describe placental pathology from women with confirmed SARS-CoV-2 infection during pregnancy, a SARS-CoV-2 immunohistochemistry-positive placenta and late miscarriage, stillbirth, neonatal death, or medically indicated birth due to fetal distress., Results: The triad of trophoblastic necrosis, inflammatory intervillous infiltrates, and increased perivillous fibrinoid deposition was present in all 17 placentas; the pregnancies resulted in eight stillbirths, two late miscarriages (19 and 21 weeks' gestation), and seven liveborn children, two of which died shortly after delivery. The severity of maternal COVID-19 was not reflected by the extent of the placental lesions. In only one case, SARS-CoV-2 was detected in lung tissue samples from the fetus. The majority events (miscarriage, stillbirth, fetal distress resulting in indicated birth, or livebirth, but neonatal death) happened shortly after maternal SARS-CoV-2 infection was diagnosed. Seven of eight sequenced cases were infected with the Delta (B.1.617.2) virus strain., Conclusion: We consolidate findings from previous case series describing extensive SARS-CoV-2 placentitis and placental insufficiency leading to fetal hypoxia. We found sparse evidence to support the notion that SARS-CoV-2 virus had infected the fetus or newborn., (© 2023 The Authors. Acta Obstetricia et Gynecologica Scandinavica published by John Wiley & Sons Ltd on behalf of Nordic Federation of Societies of Obstetrics and Gynecology (NFOG).)

Background: A faecal or urinary ostomy may be lifesaving. However, it involves significant bodily change, and the adjustment process to life with an ostomy includes a broad spectre of physical and psychosocial challenges. Thus, new interventions are needed to improve adaptation to living with an ostomy. This study aimed to examine experiences and outcomes using a new clinical feedback system with patient-reported outcome measures in ostomy care., Methods: In this longitudinal explorative study, 69 ostomy patients were followed by a stoma care nurse in an outpatient clinic, using a clinical feedback system postoperatively at 3, 6 and 12 months. The patients responded electronically to the questionnaires before each consultation. The Generic Short Patient Experiences Questionnaire was used to measure patient experiences and satisfaction with follow-up. The Ostomy Adjustment Scale (OAS) measured adjustment to life with an ostomy, and the Short Form-36 (SF-36) assessed the patient's health-related quality of life. Longitudinal regression models with time as an explanatory (categorical) variable were used to analyse changes. The STROBE guideline was applied., Results: The patients were satisfied with their follow-up (96%). Especially, they felt they received sufficient and individualised information, were involved in treatment decisions, and benefited from the consultations. The OAS subscale scores for 'daily activities', 'knowledge and skills' and 'health' improved over time (all p < 0.05), as did the physical and mental component summary scores of the SF-36 (all p < 0.05). Effect sizes of changes were small (0.20-0.40). Sexuality was the most challenging factor reported., Conclusions: The clinical feedback system could be helpful because outpatient follow-ups for ostomy patients may be more tailored when clinicians use clinical feedback systems. However, further development and testing are needed., (© 2023. The Author(s).)

This case report describes an atypical progression of pregnancy in a woman who was infected with COVID-19 in her second trimester and initially presented with signs of absent foetal movements. The foetus was diagnosed with severe intrauterine growth restriction and abnormal foetal Doppler flows. The condition slowly improved over months, and the pregnancy was terminated with an acute caesarean section in gestational week 35. Placenta was tested negative for SARS-CoV-2-nucleocapsid. Four days old, the child was found COVID-19-positive, but remained asymptomatic. This case is a rare example considering the improvement of placental function over time.

Germline pathogenic variants in CDKN2A predispose to various cancers, including melanoma, pancreatic cancer, and neural system tumors, whereas CDKN2B variants are associated with renal cell carcinoma. A few case reports have described heterozygous germline deletions spanning both CDKN2A and CDKN2B associated with a cancer predisposition syndrome (CPS) that constitutes a risk of cancer beyond those associated with haploinsufficiency of each gene individually, indicating an additive effect or a contiguous gene deletion syndrome. We report a young woman with a de novo germline 9p21 microdeletion involving the CDKN2A / CDKN2B genes , who developed six primary cancers since childhood, including a very rare extraskeletal osteosarcoma (eOS) at the age of 8. To our knowledge this is the first report of eOS in a patient with CDKN2A / CDKN2B deletion., (© 2022 Jensen et al.; Published by Cold Spring Harbor Laboratory Press.)

Introduction: Evidence about the consequences of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in pregnancy is rapidly increasing; however, data on antibody response and risk of transmission during pregnancy and delivery are still limited. The aim of this study was to evaluate if SARS-CoV-2 is detectable in vaginal swabs and whether antibodies against SARS-CoV-2 are present in maternal and umbilical cord blood of pregnant women with confirmed SARS-CoV-2., Material and Methods: A single-unit prospective cohort study in Denmark including pregnant women with SARS-CoV-2 infection confirmed by a pharyngeal swab between August 20, 2020, and March 1, 2021, who gave birth during the same period. All patients admitted to the maternity ward and antepartum clinic were screened for SARS-CoV-2 infection. A maternal blood sample and vaginal swabs were collected at inclusion. If included antepartum, these samples were repeated intrapartum when an umbilical cord blood sample was also collected. Swabs were analyzed for SARS-CoV-2 and blood samples were analyzed for SARS-CoV-2 total antibodies. Placental and neonatal swabs as well as placental histopathological examinations were performed on clinical indications., Results: We included 28 women, of whom four had serious maternal or fetal outcomes including one case of neonatal death. Within the first 8 days after confirmed SARS-CoV-2 infection, SARS-CoV-2 was detectable in two vaginal swabs (2/28) and SARS-CoV-2 antibodies were detected in 1 of 13 women. From 16 days after confirmed infection, antibodies were observed in 19 of 21 of women. Antibodies in cord blood were not detected during the first 16 days after confirmed infection (n = 7). However, from 26 days, antibodies were present in 16 of 17 cord blood samples of seropositive mothers. Placental examination in two cases of severe fetal outcomes preceded by reduced fetal movements revealed SARS-CoV-2 in swabs and severe histopathological abnormalities., Conclusions: SARS-CoV-2 was detected in only 2 of 28 vaginal swabs within 8 days after confirmed infection in pregnant women. Our data suggest that maternal seroconversion occurs between days 8 and 16, whereas antibodies in cord blood of seropositive mothers were present in the majority from 26 days after confirmed infection. Additional data are needed regarding timing of seroconversion for the mother and appearance of antibodies in cord blood., (© 2021 The Authors. Acta Obstetricia et Gynecologica Scandinavica published by John Wiley & Sons Ltd on behalf of Nordic Federation of Societies of Obstetrics and Gynecology (NFOG).)

Objective: To evaluate compounded famciclovir suspensions for accuracy, precision, and consistency in drug content., Procedures: Two compounded famciclovir concentrations were evaluated (250 and 400 mg/mL, 30 preparations total from nine 503A compounding pharmacies) with U.S. Food and Drug Administration (FDA)-approved famciclovir tablets as control. Drug quantification via high-performance liquid chromatography (with famciclovir reference standard and pramipexole internal standard) was performed at 0, 14, and 28 days with concentrations of 90%-110% of labeled dose considered acceptable (US Pharmacopoeia standards)., Results: FDA-approved tablets from three different manufacturers were found to be accurate and precise with acceptable drug content. A significantly greater mean deviation from labeled content was noted for 400 mg/mL suspensions (-52.9%) compared to 250 mg/mL suspensions (-18.0%). When assessing time points separately, 15/63 (24%) samples of 250 mg/mL and 0/27 (0%) samples of 400 mg/mL suspensions met the acceptance standards. Coefficients of variation (CV) in drug content among pharmacy batches ranged from 0.5% to 29%, with 5/10 formulations having significantly lower CV% compared to control (decreased precision). Similarly, drug content changed over time (0-28 days) in all compounded formulations, with both downward and upward trends observed (variable consistency)., Conclusions: Most compounded famciclovir formulations were inaccurate, imprecise, and inconsistent. FDA-approved famciclovir tablets may be preferred over compounded famciclovir formulations for the management of feline herpesvirus-1. If compounded famciclovir is used in practice, a concentration of 250 mg/mL is preferred over 400 mg/mL given the lower accuracy of the higher concentration., (© 2021 American College of Veterinary Ophthalmologists.)

Purpose: Historically, cancer predisposition syndromes (CPSs) were rarely established for children with cancer. This nationwide, population-based study investigated how frequently children with cancer had or were likely to have a CPS., Methods: Children (0-17 years) in Denmark with newly diagnosed cancer were invited to participate in whole-genome sequencing of germline DNA. Suspicion of CPS was assessed according to Jongmans'/McGill Interactive Pediatric OncoGenetic Guidelines (MIPOGG) criteria and familial cancer diagnoses were verified using population-based registries., Results: 198 of 235 (84.3%) eligible patients participated, of whom 94/198 (47.5%) carried pathogenic variants (PVs) in a CPS gene or had clinical features indicating CPS. Twenty-nine of 198 (14.6%) patients harbored a CPS, of whom 21/198 (10.6%) harbored a childhood-onset and 9/198 (4.5%) an adult-onset CPS. In addition, 23/198 (11.6%) patients carried a PV associated with biallelic CPS. Seven of the 54 (12.9%) patients carried two or more variants in different CPS genes. Seventy of 198 (35.4%) patients fulfilled the Jongmans' and/or MIPOGG criteria indicating an underlying CPS, including two of the 9 (22.2%) patients with an adult-onset CPS versus 18 of the 21 (85.7%) patients with a childhood-onset CPS (p = 0.0022), eight of the additional 23 (34.8%) patients with a heterozygous PV associated with biallelic CPS, and 42 patients without PVs. Children with a central nervous system (CNS) tumor had family members with CNS tumors more frequently than patients with other cancers (11/44, p = 0.04), but 42 of 44 (95.5%) cases did not have a PV in a CPS gene., Conclusion: These results demonstrate the value of systematically screening pediatric cancer patients for CPSs and indicate that a higher proportion of childhood cancers may be linked to predisposing germline variants than previously supposed., Competing Interests: The authors have declared that no competing interests exist.

Background: Living with an ostomy can be challenging and adapting to life with an ostomy can be particularly complex, with regard to both the physical and psychosocial aspects. Follow-up with a stoma care nurse (SCN) is usually performed after surgery to support the adaptation process. In the present paper, we describe a new model of ostomy care, where a clinical feedback system (CFS) is implemented in order to improve the adaption process of patients with an ostomy. We also present a plan for evaluating patients experience with the CFS and their clinical outcomes., Methods: In this study, we include patients who had recently performed colostomy, ileostomy, or urostomy surgery. The intervention includes self-reported measures for adaptation to life with an ostomy and health-related quality of life (HRQoL), as well as patient experiences and satisfaction recorded by the clinical feedback system. The measures are electronically assessed before each clinical consultation at 3, 6, and 12 months after surgery. The scores are instantly analysed and graphically presented for use during the consultation and the patient and the SCN can discuss the findings. Patient experiences and satisfaction with care will be measured with the Generic Short Patient Experiences Questionnaire. Adaptation to the life with ostomy will be measured with the Ostomy Adjustment Scale, and HRQoL with the Short Form 36., Discussion: This study presents a novel approach that could lead to improved consultation, more patient involvement, and better adaptation to life with an ostomy., Trial Register: ClinicalTrials.gov Registration Number: NCT03841071. Date 18. February 2019 retrospectively registered.

Purpose: Pediatric cancers are often difficult to classify and can be complex to treat. To ensure precise diagnostics and identify relevant treatment targets, we implemented comprehensive molecular profiling of consecutive pediatric patients with cancer relapse. We evaluated the clinical impact of extensive molecular profiling by assessing the frequency of identified biological onco-drivers, altered diagnosis, and/or identification of new relevant targeted therapies. Patients and Methods: Forty-six tumor samples (44 fresh-frozen; two formalin-fixed paraffin embedded), two bone marrow aspirates, three cerebrospinal fluid samples, and one archived DNA were obtained from 48 children (0-17 years; median 9.5) with relapsed or refractory cancer, where the disease was rapidly progressing in spite of their current treatment or they had exhausted all treatment options. The samples were analyzed by whole-exome sequencing (WES), RNA sequencing (RNAseq), transcriptome arrays, and SNP arrays. Final reports were available within 3-4 weeks after patient inclusion and included mutation status, a description of copy number alterations, differentially expressed genes, and gene fusions, as well as suggestions for targeted treatment. Results: Of the 48 patients, 33 had actionable findings. The most efficient method for the identification of actionable findings was WES (39%), followed by SNP array (37%). Of note, gene fusions were identified by RNAseq in 21% of the samples. Eleven findings led to clinical intervention, i.e., oncogenetic counseling, targeted treatment, and treatment based on changed diagnosis. Four patients received compassionate use targeted therapy. Six patients experienced direct benefits in the form of stable disease or response. Conclusion: The application of comprehensive genetic diagnostics in children with recurrent cancers allowed for discovery and implementation of effective targeted therapies and hereby improvement of outcome in some patients.

Identification of fetal kidney anomalies invites questions about underlying causes and recurrence risk in future pregnancies. We therefore investigated the diagnostic yield of next-generation sequencing in fetuses with bilateral kidney anomalies and the correlation between disrupted genes and fetal phenotypes. Fetuses with bilateral kidney anomalies were screened using an in-house-designed kidney-gene panel. In families where candidate variants were not identified, whole-exome sequencing was performed. Genes uncovered by this analysis were added to our kidney panel. We identified likely deleterious variants in 11 of 56 (20%) families. The kidney-gene analysis revealed likely deleterious variants in known kidney developmental genes in 6 fetuses and TMEM67 variants in 2 unrelated fetuses. Kidney histology was similar in the latter 2 fetuses-presenting a distinct prenatal form of nephronophthisis. Exome sequencing identified ROBO1 variants in one family and a GREB1L variant in another family. GREB1L and ROBO1 were added to our kidney-gene panel and additional variants were identified. Next-generation sequencing substantially contributes to identifying causes of fetal kidney anomalies. Genetic causes may be supported by histological examination of the kidneys. This is the first time that SLIT-ROBO signaling is implicated in human bilateral kidney agenesis., (© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

The objectives of this study were to describe the operating conditions of dry chemistry instruments in primary care, as well as to elucidate financial aspects in general practice fee-for-service settings. We used questionnaires mailed to all users of the two most used dry chemistry instruments in Norway, as well as to a 14% random sample of Norwegian GPs. The overall response rate was 79%. The mean number of dry chemistry analyses varied considerably between individual users, but in general a substantial number of analyses were carried out. Even though most analyses on the instruments' repertoire were available in all user groups, a total of 13 additional constituents were suggested to be included in the repertoire. In occupational health care most results were ready when the client was present; this was not the case in general practice. The instruments were more profitable when more constituents were analysed per sample, although profitability varied substantially in the period studied (1986-1989). A discrete time history event analysis revealed that net profit earned, lower instrument price, available information about the technology and being in solo practice significantly influenced the decision to buy an instrument in fee-for-service practices.

The paper contains a theoretical and empirical analysis of the driving forces behind the diffusion of dry chemical laboratory equipment in Norwegian primary health care. The empirical analysis is embedded in a theoretical model of a dynamic investment problem focusing on heterogeneity in the potential adopters' profit functions. The empirical analysis indicates that most adopters are too late in adopting the new technology. A logit analysis of the diffusion process lends some support to the notion that profit function heterogeneity influences the diffusion process. An offspin of the empirical analysis is information on the reimbursement system, indicating that this system does not promote efficient resource allocation in the sector.