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Monitoring of changes in skeletal muscle oxygenation during exercise has increased in recent years. Tissue oxygenation, which is related to fatigue and muscle hypertrophy, is often measured using near-infrared spectroscopy (NIRS). This study aimed to determine the test-retest reliability of a non-portable NIRS (NIRO200Nx) during the full-squat exercise and recovery in young healthy men. Twenty-five male participants (21.8 ± 2.6 years) were recruited for this original research. Each participant completed an 8-repetition test with a load that elicited a velocity of 1 m·s−1. The test was conducted twice, with a 48-hour washout period between sessions. The NIRS measured the changes of oxygenated-Hemoglobin (O 2 Hb), deoxygenated-Hemoglobin (HHb) and Tissue Oxygenation Index (TOI) in both Vastus Lateralis and Vastus Medialis during rest, exercise, and recovery. Coefficient of Variation (CV), Standard Error Measurement (SEM) and Intraclass Correlation Coefficient (ICC) were used to evaluate the reliability of the data. Significance was set at p < 0.05. The results indicated that TOI had good to acceptable absolute reliability (CV TOI = 2.7–10.2 %). A good relative relativity for the overall test was found for Vastus Medialis O 2 Hb (ICC = 0.851), HHb (ICC = 0.852), and TOI (ICC = 0.864), and Vastus Lateralis O 2 Hb (ICC = 0.898), HHb (ICC = 0.899), and TOI (ICC = 0.897). We conclude that NIRO200Nx is a reliable instrument for measuring muscle oxygen saturation through the TOI parameter in not-to-failure dynamic resistance exercises (1 set of 8 reps against ∼ 40 % 1 repetition maximum). Tissue oxygenation assessment could be a new way of individualizing exercise through dynamic resistance exercises. [ABSTRACT FROM AUTHOR]

In transgender or non-binary patients (TGNB) with failed penile inversion vaginoplasty (PIV), peritoneal flap vaginoplasty (PFV) and intestinal segment vaginoplasty (ISV) facilitate restoration of neovaginal depth and sexual function. This study compared the outcomes of revision PFV and ISV in TGNB patients with failed PIV. TGNB patients who underwent secondary PFV or ISV from December 2018 to April 2023 were reviewed. Twenty-one (5.8%) patients underwent secondary PFV and 24 (6.6%) underwent secondary ISV, due to vaginal stenosis (n = 45, 100.0%). Mean duration to first successful dilation and average vaginal depth were comparable between the groups. Seven (33.3%) PFV patients experienced short-term complications, including introital dehiscence (n = 2, 9.5%), vaginal stenosis (n = 2, 9.5%), vaginal bleeding (n = 2, 9.5%), and reoperation (n = 2, 9.5%). Nine (42.9%) experienced long-term complications, including urethrovaginal fistula formation (n = 2, 9.5%), hypergranulation (n = 2, 9.5%), vaginal stenosis (n = 7, 33.3%), and reoperation (n = 6, 28.6%). Ten (41.7%) ISV patients experienced short-term complications, including dehiscence (n = 4, 19.0%), ileus (n = 2, 8.3%), introital stenosis (n = 2, 9.5%), and reoperation due to vaginal bleeding (n = 2, 8.3%). Six (25.0%) experienced long-term complications, including introital stenosis (n = 3, 12.5%), mucosal prolapse (n = 2, 8.3%), and reoperation due to mucosal prolapse (n = 4, 16.7%). Secondary PFV had a higher rate of vaginal stenosis (p = 0.003). There were no cases of partial or full-thickness flap necrosis. Revision PFV and ISV represent viable techniques for addressing vaginal stenosis secondary to PIV. Although PFV and ISV had comparable rates of short-term complications, ISV demonstrated a lower incidence of recurrent vaginal stenosis, which may inform operative decision-making. [ABSTRACT FROM AUTHOR]

Cytotoxic T-lymphocyte antigen 4 (CTLA-4) insufficiency causes a primary immune regulatory disorder characterized by lymphoproliferation, dysgammaglobulinemia, and multiorgan autoimmunity including cytopenias and colitis. We examined the outcome of hematopoietic stem cell transplantation (HSCT) for CTLA-4 insufficiency and study the impact of pre-HSCT CTLA-4 fusion protein (CTLA-4–Ig) therapy and pre-HSCT immune dysregulation on survival and immunologic outcome. This was a retrospective study of HSCT for CTLA-4 insufficiency and 2q33.2-3 deletion from the European Society for Blood and Marrow Transplantation Inborn Errors Working Party. Primary end points were overall survival (OS) and disease- and chronic graft-versus-host disease–free survival (DFS). Secondary end point was immunologic outcome assessed by immune dysregulation disease activity (IDDA) score. Forty patients were included over a 25-year period. Before HSCT, 60% received CTLA-4–Ig, and median (range) IDDA score was 23.3 (3.9-84.0). Median (range) age at HSCT was 14.2 (1.3-56.0) years. Patients received peripheral blood stem cell (58%) or marrow (43%) from a matched unrelated donor (75%), mismatched unrelated donor (12.5%), or matched family donor (12.5%). Median (range) follow-up was 3 (0.6-15) years, and 3-year OS was 76.7% (58-87%) and DFS was 74.4% (54.9-86.0%). At latest follow-up, disease of 28 of 30 surviving patients was in disease-free remission with median IDDA reduction of 16. Probability of OS and DFS was greater in patients with lower disease activity before HSCT (IDDA < 23, P =.002 and P =.006, respectively). CTLA-4–Ig receipt did not influence OS or DFS. Cause of death was transplant related in 7 of 8 patients. HSCT is an effective therapy to prevent ongoing disease progression and morbidity, with improving survival rates over time and in patients with lower pre-HSCT disease activity. [ABSTRACT FROM AUTHOR]

Double-incision mastectomy (DIM) with free nipple grafts (FNG) is a common technique employed in gender-affirming mastectomy (GAM), but is associated with a high scar burden. Intraoperatively, the surgeon may opt for a single-incision mastectomy (SIM) along the inframammary folds (IMF) to optimize aesthetic outcomes. This study sought to identify factors predictive of intraoperative conversion. From February 2018 to November 2022, TGNB patients who underwent GAM at a single institution were retrospectively reviewed. Data regarding patient characteristics, perioperative details, postoperative complications, and aesthetic satisfaction were collected. A total of 352 patients were identified. Median age and body mass index (BMI) were 25.0 years (IQR: 9.0) and 28.5 kg/m2 (IQR: 8.5), respectively. Most patients received IMF incisions (n = 331, 94.0%); of whom, 66 (19.9%) underwent intraoperative conversion from DIM to SIM with FNG. Larger breast cup-size (p < 0.001) and a greater degree of ptosis (p = 0.002) preoperatively were significantly associated with intraoperative conversion to SIM. There was no significant association between intraoperative conversion and the ratio of intermammary distance to the width of the chest wall (p = 0.086). Overall complication rates were significantly higher among patients with diabetes mellitus (p = 0.015) and a greater degree of ptosis (p = 0.018). 77.8% (n = 274) of patients were satisfied with their aesthetic outcome. NPWT usage was associated with higher rates of aesthetic satisfaction (83.6% vs. 77.8%; p = 0.005). Patients with larger breast cup size and greater degree of ptosis should be counseled preoperatively that they may be at a higher risk of conversion to a singular incision. [ABSTRACT FROM AUTHOR]

Here we report the reliability and test/re-test validity of a Castillan version of the PCL-5 (PCL5-C) in mental health nurses. A sample of 52 consecutive nurses was recruited from two psychiatric hospitals and four psychiatrists units of general hospitals in Madrid, Spain. We detected high internal consistency for the study questionnaire at the test assessment (n = 52) and at retest 0.929 and 0.935, respectively, by total Cronbach's α. All of the items at test and re-test correlated with the total score. Reproducibility analysis showed excellent test/re-test reliability for the total score and each item. Based on our findings, we conclude that the PCL5-C is a valid and reliable questionnaire when applied among Spanish mental health nurses population. • PTSD is an exposure to direct experience of traumatic event. • PTSD is a problem for nursing staff in general and for mental health in particular. • PCL5-C is a valid and reliable questionnaire for mental health nurses. [ABSTRACT FROM AUTHOR]

Delayed hypothermia, initiated after hospital arrival, several hours after cardiac arrest with 8-10 hours to reach the target temperature, is likely to have limited impact on overall survival. However, the effect of ultrafast hypothermia, i.e., delivered intra-arrest or immediately after return of spontaneous circulation (ROSC), on functional neurologic outcome after out-of-hospital cardiac arrest (OHCA) is unclear. In two prior trials, prehospital trans-nasal evaporative intra-arrest cooling was safe, feasible and reduced time to target temperature compared to delayed cooling. Both studies showed trends towards improved neurologic recovery in patients with shockable rhythms. The aim of the PRINCESS2-study is to assess whether cooling, initiated either intra-arrest or immediately after ROSC, followed by in-hospital hypothermia, significantly increases survival with complete neurologic recovery as compared to standard normothermia care, in OHCA patients with shockable rhythms. In this investigator-initiated, randomized, controlled trial, the emergency medical services (EMS) will randomize patients at the scene of cardiac arrest to either trans-nasal cooling within 20 minutes from EMS arrival with subsequent hypothermia at 33°C for 24 hours after hospital admission (intervention), or to standard of care with no prehospital or in-hospital cooling (control). Fever (>37,7°C) will be avoided for the first 72 hours in both groups. All patients will receive post resuscitation care and withdrawal of life support procedures according to current guidelines. Primary outcome is survival with complete neurologic recovery at 90 days, defined as modified Rankin scale (mRS) 0-1. Key secondary outcomes include survival to hospital discharge, survival at 90 days and mRS 0-3 at 90 days. In total, 1022 patients are required to detect an absolute difference of 9% (from 45 to 54%) in survival with neurologic recovery (80% power and one-sided α=0,025, β=0,2) and assuming 2,5% lost to follow-up. Recruitment starts in Q1 2024 and we expect maximum enrolment to be achieved during Q4 2024 at 20-25 European and US sites. This trial will assess the impact of ultrafast hypothermia applied on the scene of cardiac arrest, as compared to normothermia, on 90-day survival with complete neurologic recovery in OHCA patients with initial shockable rhythm. NCT06025123. [ABSTRACT FROM AUTHOR]

Ensuring the safety and operational efficiency of hydraulic infrastructures is paramount, considering the widespread consequences that damages can inflict on people, communities, and the environment. To mitigate risks and prevent significant losses, continuous surveillance is vital. While some damages might appear minor, they can jeopardize the complete operational reliability of dams, leading to substantial economic losses, especially in energy production and related activities. The rapid growth in 20th-century infrastructure development globally has made security monitoring a necessity for numerous civil structures. Rigorous inspection programs, particularly for reservoir dams, are essential for safeguarding citizens and their properties. However, individually monitoring each dam is often impractical due to the associated costs and time constraints, potentially posing safety risks. Fortunately, satellite-based differential radar interferometry (DInSAR) offers an effective and cost-efficient remote sensing solution. Multi-temporal Interferometric Synthetic Aperture Radar (MT-InSAR) techniques, particularly utilizing Persistent Scatterers, have proven successful in monitoring various infrastructures, natural phenomena, and geological activities. MT-InSAR provides precise measurements without the need for fieldwork, utilizing historical SAR image archives dating back to the 1990s. Technological advancements, such as the Sentinel-1 C-band with a six-day revisit time until the end of 2021, have enhanced monitoring capabilities. Additionally, commercial radar images in the X-band and the development of multi-interferometric InSAR techniques have opened new avenues for monitoring. This study showcases the adaptation and application of MT-InSAR for monitoring dams and large ponds constructed with loose materials. By assessing vertical displacements and consolidation rates, the technique identifies potential issues, aiding in further field investigations. Case studies involving dams and large reservoirs in Andalusia illustrate the effectiveness of satellite radar interferometry in monitoring their structural stability from space as a routine practice. [ABSTRACT FROM AUTHOR]

To examine the effectiveness of different exercise-based interventions to mitigate the risk of anterior cruciate ligament injury in football players, and to determine which is the most appropriate for them, specifically for female football players. Four databases were accessed in July 2023 using the keywords football, soccer, athletic injuries, anterior cruciate ligament, knee injuries, injury prevention, exercise-based programme, and risk factor. Randomised controlled trials that evaluated any exercise-based injury prevention intervention compared with a control group on the prevention of anterior cruciate ligament injury in football players were included. Eleven studies were included. Data were presented as logarithm hazard ratio, credible intervals and standard deviation. FIFA 11+ was the most effective in reducing anterior cruciate ligament injury risk in football players (logarithm hazard ratio = –1.23 [95% credible intervals: –2.20, –0.35]; SD = 0.47), followed by the Knäkontroll programme (logarithm hazard ratio = –0.76 [95% credible intervals: –1.60, –0.03]; standard deviation = 0.42). For females, only Knäkontroll had a significant impact on reducing the risk of anterior cruciate ligament injury (logarithm hazard ratio = –0.62 [95% credible intervals: –1.71, 0.62]; standard deviation = 0.58). Our results support the use of FIFA 11+ and Knäkontroll to mitigate injury incidence at overall level. However, the effectiveness of these interventions changed when adjusting for females. Knäkontroll is postulated as the programme with the greatest preventive nature, although these results should be interpreted with caution due to the lack of the sample. [ABSTRACT FROM AUTHOR]

Thyroid chondroplasty (TC) in facial gender-affirming surgery (FGAS) is aimed at modifying the thyroid cartilage to achieve a more feminine laryngeal appearance. This study evaluated open versus endoscopic techniques to TC and associated outcomes and complications. A systematic review (SR) of articles pertaining to TC was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Twelve articles representing 368 patients were included for analysis. Nine articles described open approaches, and three articles described endoscopic techniques. The rate of total complications was 4.3% (n = 12) in the open approach compared to 15% (n = 13) in the endoscopic approach. Positive esthetic results were reported in 92% of cases performed with the open approach and 90% with the endoscopic approach. In the open approach, seven (2.5%) patients requested additional removal of cartilage, and three (1.1%) requested scar revision. In the endoscopic approach, three (3.7%) patients requested additional cartilage removal. In addition, data of individuals who underwent "cervical tracheoplasty" for gender dysphoria from the American College of Surgeons National Surgical Quality Improvement Program (NSQIP) database was reviewed, and there was no incidence of wound or major complications among patients who underwent tracheoplasty alone. Although the advantage of the endoscopic approach is a scarless neck incision, the rate of complications is higher with the open approach. Endoscopic approaches are still not widely used, and continued investigations are warranted to improve familiarity with this approach and reduce postoperative complications. [ABSTRACT FROM AUTHOR]

Several particular characteristics of patients with congenital heart disease could affect lipid levels. The objectives of this study were: a) to analyze the prevalence of dyslipidemia in congenital heart disease patients; 2) to compare lipid levels between congenital heart disease patients and a control group. This systematic review and meta-analysis was performed according to PRISMA guidelines (PROSPERO CRD42023432041). A literature search was performed to detect studies that have reported lipid levels or the prevalence of dyslipidemia in congenital heart disease patients. We performed a qualitative analysis (studies that reported dyslipidemia prevalence) and quantitative analysis (studies that compared lipid values between congenital heart disease patients and controls). In total, 29 observational studies involving 22,914 patients with congenital heart disease and 641,086 controls were eligible for this review. The reported presence of "hyperlipidemia" or "dyslipidemia" ranged from 14.3% to 69.9%. When studies analyzed lipid variables dichotomously between congenital heart disease patients and controls, the results were conflicting. The quantitative analysis showed that patients with congenital heart disease have lower levels of total cholesterol (MD: −18.9 [95% CI: −22.2 to −15.7]; I2 = 93%), LDL-C (MD: −10.7 [95% CI: −13.1 to −8.3]; I2 = 90%) and HDL-C (MD: −6.3 [95% CI: −7.7 to −4.9]; I2 = 95%) compared to controls. The qualitative analysis showed some concerns, but the quantitative analysis indicates that congenital heart disease patients showed lower levels of total cholesterol, LDL-C, and HDL-C compared to controls. New research should be developed to clarify this relevant topic. • Many features of patients with congenital heart disease could affect lipid levels. • We analyzed the relationship between lipid levels and congenital heart disease. • The qualitative analysis showed some concerns. • Meta-analysis showed lower lipid levels in patients with congenital heart disease. [ABSTRACT FROM AUTHOR]

We adapted a traditional community advisory board to the needs of youth living with HIV (YLWH), resulting in a virtual, asynchronous, and anonymous youth advisory board (YAB). The YAB's evolution fostered participation during the adaptation of an HIV care mobile health application. YAB members, comprised of YLWH in South Texas, engaged in the mobile application's formative evaluation, adaptation, and pilot implementation. We collected feedback via surveys and interviews, analyzed and integrated responses, tracked participation and YAB adaptations, and performed content analysis. Driven by feedback, the YAB evolved from in-person group meetings to the current iteration. We administered five surveys, and YAB members provided feedback on communication preferences; mobile app elements; privacy and confidentiality; and virtual support groups. Our adaptive process highlights three primary drivers of innovation: COVID-19 risk reduction, asynchrony, anonymity. Our success in maintaining YAB engagement suggests the adapted model could be employed to support youth input in other contexts. [ABSTRACT FROM AUTHOR]

Data on how to teach endosonographers needle-based confocal laser endomicroscopy (nCLE)-guided histologic diagnosis of pancreatic cystic lesions (PCLs) are limited. Hence, we developed and tested a structured educational program to train early-career endosonographers in nCLE-guided diagnosis of PCLs. Twenty-one early-career nCLE-naïve endosonographers watched a teaching module outlining nCLE criteria for diagnosing PCLs. Participants then reviewed 80 high-yield nCLE videos, recorded diagnoses, and received expert feedback (phase 1). Observers were then randomized to a refresher feedback session or self-learning at 4 weeks. Eight weeks after training, participants independently assessed the same 80 nCLE videos without feedback and provided histologic predictions (phase 2). Diagnostic performance of nCLE to differentiate mucinous versus nonmucinous PCLs and to diagnose specific subtypes were analyzed using histopathology as the criterion standard. Learning curves were determined using cumulative sum analysis. Accuracy and diagnostic confidence for differentiating mucinous versus nonmucinous PCLs improved as endosonographers progressed through nCLE videos in phase 1 (P <.001). Similar trends were observed with the diagnosis of PCL subtypes. Most participants achieved competency interpreting nCLE, requiring a median of 38 assessments (range, 9-67). During phase 2, participants independently differentiated PCLs with high accuracy (89%), high confidence (83%), and substantial interobserver agreement (κ =.63). Accuracy for nCLE-guided PCL subtype diagnoses ranged from 82% to 96%. The learned nCLE skills did not deteriorate at 8 weeks and were not impacted by a refresher session. We developed a practical, effective, and durable educational intervention to train early-career endosonographers in nCLE-guided diagnosis of PCLs. [Display omitted] [ABSTRACT FROM AUTHOR]

• Critical illness-associated cerebral microbleeds have typical locations such as juxtacortical white matter and corpus callosum. • Most cases present respiratory failure with prolonged mechanical ventilation and ICU stay, indistinctly between COVID-19 and non-COVID-19 patients. • The location of microbleeds were similar between COVID-19 and non-COVID-19 individuals but for a higher brainstem involvement in non-COVID-19 patients. Cerebral microbleeds in critically ill patients have been a reported complication of COVID-19. However, they have also been described in patients with other respiratory infections and conditions requiring intensive care unit (ICU) admission. Here, we aim to describe the clinical characteristics of critical illness-associated cerebral microbleeds and compare COVID-19 cases with those related to other conditions. We performed a systematic literature review in PubMed and Embase for Critical Illness–Associated Cerebral Microbleeds to describe the clinical characteristics of this entity, in both COVID-19 and non-COVID-19 patients. Of 157 manuscripts screened, 23 were included, totalling 143 cases (median age 61, interquartile range [IQR] 54–66), 104 (73 %) men. SARS-CoV2-associated pneumonia was found in 105 (73 %) cases. The median ICU stay was 34 (IQR 26–42) days and the median mechanical ventilation time was 24 (IQR 14–35) days. Cerebral microbleeds were more frequently juxtacortical (79 %) or located in the corpus callosum (75 %) and deep white matter (71 %) for both COVID-19 and non-COVID-19 individuals, whilst brainstem location was more frequent in non-COVID-19 patients (37 % vs 13 %; p = 0.02). Non-COVID-19 patients were younger (median age 42, IQR 30–54 years) than COVID-19 patients (median age 62, IQR 57–67 years; p < 0.001), and the median platelet count was significantly higher (200,000; IQR 116,000–284,000 ng/dL) in COVID-19 patients than non-COVID-19 patients (50,000; IQR 39,000–61,000 ng/mL; (p < 0.001). In this systematic review, most patients presented respiratory failure with prolonged mechanical ventilation and ICU stay. Juxtacortical white matter and corpus callosum are characteristic locations of critical illness-associated microbleeds. [ABSTRACT FROM AUTHOR]

In Latin America, synanthropic mammalian reservoirs maintain Trypanosoma cruzi , a parasitic protozoan, where they facilitate the transmission of the parasite to humans and other reservoir hosts in peridomestic settings. In the United States, raccoons (Procyon lotor) and Virginia opossums (Didelphis virginiana) are known synanthropic T. cruzi reservoir hosts; however, the role these species have in the peridomestic transmission cycle in the US is not well understood. This study aimed to identify the suite of mammalian reservoirs of T. cruzi in Florida. We also compared infection prevalence in raccoon populations sampled from within and outside of the estimated distribution of the common T. cruzi vector in Florida to gain insight into how the arthropod vector distribution impacts the distribution of infected reservoirs in the state. Finally, to investigate the impact of peridomestic landscapes on parasite prevalence, we compared the prevalence of T. cruzi -infected raccoons and opossums across five paired peridomestic and sylvatic sites. We live-trapped and collected peripheral blood samples from 135 raccoons, 112 opossums, 18 nine-banded armadillos (Dasypus novemcinctus), and nine species of rodents in north central Florida. Using quantitative PCR methods, we found that raccoons (42.2%, 95% CI [34.2–50.7%]) and opossums (50.9%, 95% CI [41.8–60.0%]) were infected with T. cruzi and the prevalence across habitats was similar for both raccoons (peridomestic: n = 77, 44.2%, 95% CI [33.6–55.3%], sylvatic: n = 58, 39.7%, 95% CI [28.1–52.5%]) and opossums (peridomestic: n = 66, 48.5%, 95% CI [36.8–60.3%], sylvatic: n = 46, 54.3%, 95% CI [40.2–67.8%]). Raccoons sampled outside the estimated distribution of Triatoma sanguisuga were not infected with T. cruzi (n = 73, 0.0%, 95% CI [0.0–5.0%]). Our study did not indicate that peridomestic habitats in Florida maintained a higher infection prevalence than their sylvatic counterparts; however, we did find a difference in prevalence within vs. outside the estimated vector distribution in Florida. [Display omitted] • In Florida, raccoons and opossums are primary host reservoirs of Trypanosoma cruzi. • Contrary to expectation, prevalence in mammals was not higher near human dwellings. • Trypanosoma cruzi did not infect raccoons outside the distribution of the vector. • The cotton mouse, Peromyscus gossypinus, had a low infection prevalence of T. cruzi. [ABSTRACT FROM AUTHOR]

[Display omitted] • Structural variants (SVs) calling tools are compared using real data. • We compare at the genome level the SVs detected by nanopore sequencing and aCGH. • We use coverage data for polishing calls and improve consensus. • Our method contributes to identify SVs and filtering out erroneous SV calls. Whole-genome sequencing using nanopore technologies can uncover structural variants, which are DNA rearrangements larger than 50 base pairs. Nanopore technologies can also characterize their boundaries with single-base accuracy, owing to the kilobase-long reads that encompass either full variants or their junctions. Other methods, such as next-generation short read sequencing or PCR assays, are limited in their capabilities to detect or characterize structural variants. However, the existing software for nanopore sequencing data analysis still reports incomplete variant sets, which also contain erroneous calls, a considerable obstacle for the molecular diagnosis or accurate genotyping of populations. We compared multiple factors affecting variant calling, such as reference genome version, aligner (minimap2, NGMLR, and lra) choice, and variant caller combinations (Sniffles, CuteSV, SVIM, and NanoVar), to find the optimal group of tools for calling large (>50 kb) deletions and duplications, using data from seven patients exhibiting gross gene defects on SERPINC1 and from a reference variant set as the control. The goal was to obtain the most complete, yet reasonably specific group of large variants using a single cell of PromethION sequencing, which yielded lower depth coverage than short-read sequencing. We also used a custom method for the statistical analysis of the coverage value to refine the resulting datasets. We found that for large deletions and duplications (>50 kb), the existing software performed worse than for smaller ones, in terms of both sensitivity and specificity, and newer tools had not improved this. Our novel software, disCoverage, could polish variant callers' results, improving specificity by up to 62% and sensitivity by 15%, the latter requiring other data or samples. We analyzed the current situation of >50-kb copy number variants with nanopore sequencing, which could be improved. The methods presented in this work could help to identify the known deletions and duplications in a set of patients, while also helping to filter out erroneous calls for these variants, which might aid the efforts to characterize a not-yet well-known fraction of genetic variability in the human genome. [ABSTRACT FROM AUTHOR]

• Frailty is a very common condition in patients admitted for heart failure (HF). • Frail patients presented a high-risked clinical profile with worse scores in geriatric scales. A systematic geriatric evaluation might be useful in patients admitted for HF. • We did not detect significant changes in the treatment of the acute HF between frail and non-frail patients. Heart failure prevalence is increasing in elder adults. These patients usually present geriatric syndromes, especially frailty. The effect of frailty on heart failure is under discussion but there are few data about the clinical characterization of frail patients who are admitted for acute heart failure decompensation. The purpose of this study was to study the differences in clinical baseline variables and geriatric scales between frail and non-frail patients admitted to the Cardiology unit via the Emergency Department for acute heart failure. We enrolled all patients with acute heart failure who were admitted to the Cardiology unit from the Emergency Department of our hospital from July 2020 through May 2021. A multidimensional and comprehensive geriatric assessment was performed at the moment of admission. We studied differences in baseline variables and geriatric scales according to the frailty status determined by the FRAIL scale. A total of 202 patients were included. In the whole population, 68 (33.7%) patients presented frailty defined by a FRAIL score ≥ 3. The frail patients were older (80±9 vs. 69±12 years; p <0.001), and had a worse quality of life (58.31±12.18 vs.39.26±13.71 points; p <0.001) according to the Minnesota scale, presented high comorbidity (47 (69.1%) vs. 67 (50.4%) patients; p = 0.011) defined as ≥3 points according to the Charlson scale and were more dependent (40 (58.8%) vs. 25 (18.8%) patients; p <0.001) according to the Barthel scale. The frail patients presented higher MAGGIC risk scores (24.09±4.99 vs. 18.89±6.26; p <0.001). Despite this adverse profile, the treatments prescribed during the admission and at the hospital discharge were similar. The prevalence of geriatric syndromes, especially frailty, is very high in patients admitted for acute heart failure. Frail patients with acute heart failure had an adverse clinical profile with more prevalence of concomitant geriatric syndromes. Therefore, we consider that a geriatric assessment should be performed during the admission of acute heart failure patients to improve care and attention. [ABSTRACT FROM AUTHOR]

The role of lipoprotein(a) [Lp(a)] as a possibly causal risk factor for atherosclerotic artery disease and aortic valve stenosis has been well established. However, the information available on the association between Lp(a) levels and mitral valve disease is limited and controversial. The main objective of the present study was to assess the association between Lp(a) levels and mitral valve disease. This systematic review was performed according to PRISMA guidelines (PROSPERO CRD42022379044). A literature search was performed to detect studies that evaluated the association between Lp(a) levels or single-nucleotide polymorphisms (SNPs) related to high levels of Lp(a) and mitral valve disease, including mitral valve calcification and valve dysfunction. Eight studies including 1,011,520 individuals were considered eligible for this research. The studies that evaluated the association between Lp(a) levels and prevalent mitral valve calcification found predominantly positive results. Similar findings were reported in two studies that evaluated the SNPs related to high levels of Lp(a). Only two studies evaluated the association of Lp(a) and mitral valve dysfunction, showing contradictory results. This research showed disparate results regarding the association between Lp(a) levels and mitral valve disease. The association between Lp(a) levels and mitral valve calcification seems more robust and is in line with the findings already demonstrated in aortic valve disease. New studies should be developed to clarify this topic. • The Lp(a) is a causal risk factor for aortic valve stenosis. • Calcification would be the main mechanism by which Lp(a) could affect it. • The association between Lp(a) levels and mitral valve disease is poorly studied. • This review analyzed the relationship between Lp(a) levels and mitral valve disease. • Our findings suggest an association between Lp(a) and mitral valve calcification. [ABSTRACT FROM AUTHOR]

En France, bien qu'en diminution, la prévalence du tabagisme reste élevée et son rôle dans la santé sexuelle des hommes est peu décrit. L'objectif était de rapporter une mise au point sur les effets du tabac sur la santé sexuelle masculine, permettant de communiquer à nos patients une information préventive, simple et conforme aux données actuelles de la littérature. Une revue de la littérature a été réalisée sur la base de données PubMed en août 2022 en utilisant les mots clés « tobacco », « male infertility » et « erectile dysfunction ». Les fumeurs ont un risque plus important de dysfonction érectile quels que soit l'âge et les comorbidités. Celui-ci serait dû à une altération du métabolisme du NO, à l'atteinte des fibres élastiques artérielles et à la fabrication de radicaux libres. Il existerait une relation dose-effet avec un risque de dysfonction érectile accru au-delà de 20 paquets-années. La consommation de tabac serait aussi associée à une infertilité masculine liée à des altérations des paramètres du spermogramme (volume d'éjaculat, nombre de spermatozoïdes) mais aussi des spermatozoïdes (mobilité, vitalité, morphologie) secondaires à la production de radicaux libres. Il existerait de plus des modifications hormonales, notamment une diminution de la testostérone sérique, et des anomalies de la spermatogénèse. La réversibilité des effets sur la fonction érectile et la fertilité après sevrage reste à confirmer. Une consommation de tabac chez l'homme serait à risque de troubles de la fertilité et de l'érection avec une réversibilité lors du sevrage incertaine. Il convient d'informer les patients fumeurs de l'ensemble des effets délétères connus du tabagisme sur leur santé sexuelle et de promouvoir le sevrage tabagique en toute occasion. In France, although declining, the prevalence of smoking remains high and its role in men's sexual health is poorly described. The aim of our study was to provide an update on the effects of tobacco on male sexual health, allowing us to provide our patients with preventive information that is simple and consistent with current literature. A literature review was performed with the PubMed database in August 2022, using the keywords "tobacco", "male infertility" and "erectile dysfunction". Smokers have a higher risk of erectile dysfunction regardless of age and comorbidities. This should be due to an alteration in the metabolism of NO, the impairement of arterial elastic fibres and the production of reactive oxygen species. There would be a dose-response relationship with an increased risk of erectile dysfunction beyond 20 pack-years. Smoking is also associated with male infertility linked to alterations in semen parameters (ejaculate volume, sperm count) but also sperm (mobility, vitality, morphology) caused by high production of reactive oxygen species. In addition, hormonal changes, including a decrease in serum testosterone, and abnormalities in spermatogenesis, are reported. Reversibility of effects on erectile function and fertility after tobacco cessation remains to be confirmed. Smoking in men would be at risk of fertility and erection disorders with an uncertain reversibility after tobacco cessation. Smokers should be informed of the effects of smoking on their sexual health and smoking cessation should be promoted at all times. [ABSTRACT FROM AUTHOR]

• We develop tools for the classification of near-infrared hyperspectral signatures. • We analyse a dataset of non-melanoma skin cancer patients and actinic keratosis. • Convolutional neural support vector machine achieve high accuracy on this task. • 98 % accuracy is obtained proving efficient in detecting skin cancer lesions. • Near-infrared hyperspectral images could be a useful tool for skin cancer screening. The early detection of Non-Melanoma Skin Cancer (NMSC) is essential to ensure patients receive the most effective treatment. Diagnostic screening tools for NMSC are crucial due to high confusion rates with other types of skin lesions, such as Actinic Keratosis. Nevertheless, current means of diagnosing and screening patients rely on either visual criteria, that are often conditioned by subjectivity and experience, or highly invasive, slow, and costly methods, such as histological diagnoses. From this, the objectives of the present study are to test if classification accuracies improve in the Near-Infrared region of the electromagnetic spectrum, as opposed to previous research in shorter wavelengths. This study utilizes near-infrared hyperspectral imaging, within the range of 900.6 and 1454.8 nm. Images were captured for a total of 125 patients, including 66 patients with Basal Cell Carcinoma, 42 with cutaneous Squamous Cell Carcinoma, and 17 with Actinic Keratosis, to differentiate between healthy and unhealthy skin lesions. A combination of hybrid convolutional neural networks (for feature extraction) and support vector machine algorithms (as a final activation layer) was employed for analysis. In addition, we test whether transfer learning is feasible from networks trained on shorter wavelengths of the electromagnetic spectrum. The implemented method achieved a general accuracy of over 80 %, with some tasks reaching over 90 %. F1 scores were also found to generally be over the optimal threshold of 0.8. The best results were obtained when detecting Actinic Keratosis, however differentiation between the two types of malignant lesions was often noted to be more difficult. These results demonstrate the potential of near-infrared hyperspectral imaging combined with advanced machine learning techniques in distinguishing NMSC from other skin lesions. Transfer learning was unsuccessful in improving the training of these algorithms. We have shown that the Near-Infrared region of the electromagnetic spectrum is highly useful for the identification and study of non-melanoma type skin lesions. While the results are promising, further research is required to develop more robust algorithms that can minimize the impact of noise in these datasets before clinical application is feasible. [ABSTRACT FROM AUTHOR]

Estrogen secretion by the ovaries regulates the hypothalamic-pituitary-gonadal axis during the reproductive cycle, influencing gonadotropin-releasing hormone (GnRH) and luteinizing hormone (LH) secretion, and also plays a role in regulating metabolism. Here, we establish that hypothalamic tanycytes—specialized glia lining the floor and walls of the third ventricle—integrate estrogenic feedback signals from the gonads and couple reproduction with metabolism by relaying this information to orexigenic neuropeptide Y (NPY) neurons. Using mouse models, including mice floxed for Esr1 (encoding estrogen receptor alpha, ERα) and those with Cre-dependent expression of designer receptors exclusively activated by designer drugs (DREADDs), along with viral-mediated, pharmacological and indirect calorimetric approaches, we evaluated the role of tanycytes and tanycytic estrogen signaling in pulsatile LH secretion, cFos expression in NPY neurons, estrous cyclicity, body-weight changes and metabolic parameters in adult females. In ovariectomized mice, chemogenetic activation of tanycytes significantly reduced LH pulsatile release, mimicking the effects of direct NPY neuron activation. In intact mice, tanycytes were crucial for the estrogen-mediated control of GnRH/LH release, with tanycytic ERα activation suppressing fasting-induced NPY neuron activation. Selective knockout of Esr1 in tanycytes altered estrous cyclicity and fertility in female mice and affected estrogen's ability to inhibit refeeding in fasting mice. The absence of ERα signaling in tanycytes increased Npy transcripts and body weight in intact mice and prevented the estrogen-mediated decrease in food intake as well as increase in energy expenditure and fatty acid oxidation in ovariectomized mice. Our findings underscore the pivotal role of tanycytes in the neuroendocrine coupling of reproduction and metabolism, with potential implications for its age-related deregulation after menopause. Our investigation reveals that tanycytes, specialized glial cells in the brain, are key interpreters of estrogen signals for orexigenic NPY neurons in the hypothalamus. Disrupting tanycytic estrogen receptors not only alters fertility in female mice but also impairs the ability of estrogens to suppress appetite. This work thus sheds light on the critical role played by tanycytes in bridging the hormonal regulation of cyclic reproductive function and appetite/feeding behavior. This understanding may have potential implications for age-related metabolic deregulation after menopause. • Hypothalamic tanycytes provide estradiol-weighed information to orexigenic NPY neurons in females • ERα in tanycytes links estrogen signaling to appetite and fertility in cycling females • ERα expression in female tanycytes is required for estrogens to exert its anorexigenic effect • Tanycytic ERα signaling is required for fasting-induced cFos expression in NPY neurons and refeeding in females. [ABSTRACT FROM AUTHOR]

Left ventricular ejection fraction (LVEF) and end-systolic volume (ESV) remain the main imaging biomarkers for post-acute myocardial infarction (AMI) risk stratification. However, they are limited to global systolic function and fail to capture functional and anatomical regional abnormalities, hindering their performance in risk stratification. This study aimed to identify novel 3-dimensional (3D) imaging end-systolic (ES) shape and contraction descriptors toward risk-related features and superior prognosis in AMI. A multicenter cohort of AMI survivors (n = 1,021; median age 63 years; 74.5% male) who underwent cardiac magnetic resonance (CMR) at a median of 3 days after infarction were considered for this study. The clinical endpoint was the 12-month rate of major adverse cardiac events (MACE; n = 73), consisting of all-cause death, reinfarction, and new congestive heart failure. A fully automated pipeline was developed to segment CMR images, build 3D statistical models of shape and contraction in AMI, and find the 3D patterns related to MACE occurrence. The novel ES shape markers proved to be superior to ESV (median cross-validated area under the receiver-operating characteristic curve 0.681 [IQR: 0.679-0.684] vs 0.600 [IQR: 0.598-0.602]; P < 0.001); and 3D contraction to LVEF (0.716 [IQR: 0.714-0.718] vs 0.681 [IQR: 0.679-0.684]; P < 0.001) in MACE occurrence prediction. They also contributed to a significant improvement in a multivariable setting including CMR markers, cardiovascular risk factors, and basic patient characteristics (0.747 [IQR: 0.745-0.749]; P < 0.001). Based on these novel 3D descriptors, 3 impairments caused by AMI were identified: global, anterior, and basal, the latter being the most complementary signature to already known predictors. The quantification of 3D differences in ES shape and contraction, enabled by a fully automated pipeline, improves post-AMI risk prediction and identifies shape and contraction patterns related to MACE occurrence. [Display omitted] [ABSTRACT FROM AUTHOR]

• Familial hypercholesterolemia (FH) is associated with an increased cardiovascular risk. • The cardiovascular benefit of lipid-lowering therapy in FH is poor explored. • We developed a systematic review on this topic according to current guidelines. • Statins reduce cardiovascular events also in patients with FH. • Evidence for other lipid-lowering drugs is not conclusive. Background: Lipid-lowering medication is effective in reducing the risk of cardiovascular disease in several clinical scenarios. However, the evidence in patients with familial hypercholesterolemia (FH) and severe primary hypercholesterolemia is less robust. Objectives: The main objective of the present systematic review was to analyze the association between lipid-lowering medication and cardiovascular risk reduction in patients with FH or severe primary hypercholesterolemia. Methods: This systematic review was performed according to PRISMA guidelines. A literature search was performed to detect studies that evaluated the association between lipid-lowering medication and cardiovascular events in FH patients. The diagnosis of FH varied in the studies analyzed. Genetic and clinical criteria or a combination of both were used. Likewise, we considered patients with severe primary hypercholesterolemia. Results: Fourteen studies including 21059 patients were considered eligible for this research. This systematic review showed that the vast majority of the studies with statins reported a significant cardiovascular risk reduction. Statin use was associated with a lower risk of major adverse cardiovascular events (3 studies), coronary heart disease (2 studies), cardiovascular death (4 studies), all-cause mortality (4 studies) and combined endpoint of coronary heart disease and mortality (1 study). When analyzing the association between non-statin lipid-lowering medications and the incidence of cardiovascular events, the results were conflicting. Conclusion: Despite the low level of evidence, this systematic review showed that statins reduce cardiovascular events in patients with HeFH. Evidence for other lipid-lowering drugs is not conclusive. [ABSTRACT FROM AUTHOR]

Despite some reports that have shown an increase in safety, efficiency, and accuracy during feminizing craniofacial procedures utilizing three-dimensional (3D) technology, there are no reports summarizing the available evidence on this matter for facial feminization surgery (FFS). Here, we aimed to systematically review the application of 3D technology on FFS. We conducted a comprehensive search across PubMed, SCOPUS, Ovid MEDLINE®, Web of Science, and ScienceDirect looking for studies reporting the use of 3D surgical planning in the setting of FFS following the PRISMA guidelines. We extracted data on photographic assessment, imaging, surgical application, and surgical technique and outcomes. This review included 10 studies comprising 1473 transgender female patients and 50 cadaveric cranial specimens. Four studies employed virtual surgical planning (VSP) and the concomitant use of prefabricated cutting guides. One study reported the implementation of 3D VSP using a female skull as a reference. One study used computer-aided design cutting guides and custom plates for FFS. Standardized incorporation of 3D printed models allowed for preoperative planning in three studies. Three studies reported VSP using 3D reconstruction of CT images, but without the use of 3D printing. Three studies used 3D photography with specialized camera technology to enrich clinical documentation and provide a comprehensive facial analysis of soft tissue. Accuracy ranged from 85.7% to 97%. Morbidity ranged from 0% to 12.5%. Based on this data, we believe 3D VSP has promising outcomes in terms of accuracy and low morbidity, encouraging its implementation in FFS. However, further prospective double-arm cohort studies are required. [ABSTRACT FROM AUTHOR]

Bioprosthetic valve thrombosis may have implications for valve function and durability. Using a novel glycoprotein IIb/IIIa receptor radiotracer 18F-GP1, we investigated whether positron emission tomography (PET)-computed tomography (CT) could detect thrombus formation on bioprosthetic aortic valves. Ex vivo experiments were performed on human platelets and explanted bioprosthetic aortic valves. In a prospective cross-sectional study, patients with either bioprosthetic or normal native aortic valves underwent echocardiography, CT angiography, and 18F-GP1 PET-CT. Flow cytometric analysis, histology, immunohistochemistry, and autoradiography demonstrated selective binding of 18F-GP1 to activated platelet glycoprotein IIb/IIIa receptors and thrombus adherent to prosthetic valves. In total, 75 participants were recruited: 53 with bioprosthetic valves (median time from implantation 37 months [IQR: 12-80 months]) and 22 with normal native aortic valves. Three participants had obstructive valve thrombosis, and a further 3 participants had asymptomatic hypoattenuated leaflet thickening on CT angiography. All bioprosthetic valves, but none of the native aortic valves, demonstrated focal 18F-GP1 uptake on the valve leaflets: median maximum target-to-background ratio 2.81 (IQR: 2.29-3.48) vs 1.43 (IQR: 1.28-1.53) (P < 0.001). Higher 18F-GP1 uptake was independently associated with duration of valve implantation and hypoattenuated leaflet thickening. All 3 participants with obstructive valve thrombosis were anticoagulated for 3 months, leading to resolution of their symptoms, improvement in mean valve gradients, and a reduction in 18F-GP1 uptake. Adherence of activated platelets is a common and sustained finding on bioprosthetic aortic valves. 18F-GP1 uptake is higher in the presence of thrombus, regresses with anticoagulation, and has potential use as an adjunctive clinical tool. (18F-GP1 PET-CT to Detect Bioprosthetic Aortic Valve Thrombosis; NCT04073875) [Display omitted] [ABSTRACT FROM AUTHOR]

Multispecies uneven-aged forests have received increasing scientific attention due to the assumption that tree biological and structural diversity enhance biomass production. However, assessments have yielded inconsistent results. The objective of this study was therefore to evaluate this assumption using a dataset of 394 permanent plots (2500 m2) located in temperate multispecies forests in Durango, Mexico. We assessed the effects of tree biological (based on species richness and evenness) and structural (based on stem density and size heterogeneity) diversity on biomass production (ton · ha−1· yr−1) through a generalized additive model. The developed model explained 46 percent of the total variance of biomass production, and the effects of tree biological and structural diversity were statistically significant. The effect of tree biological diversity on productivity showed that multispecies stands dominated by a few species exhibited higher productivity than stands with evenly distributed species. On the other hand, tree size heterogeneity improved the influence of stem density on woody biomass production. In conclusion, tree biological and structural diversity play an essential role in developing strategies for temperate multispecies stand management, where dominant trees have a major effect on biomass production. • Evenness influences the richness-productivity relationship. • Tree-size heterogeneity improves biomass production. • Biomass production is higher in stands dominated by a few tree species. [ABSTRACT FROM AUTHOR]

The objective of the research was to analyse the impact of the ultrasonic vibration assistance on the wear resistance and topology enhancement of AISI 1045 cylindrical steel samples after a ball burnishing process. Burnishing process parameters such as burnishing force, number of passes and the assistance, or not, of a 40kHz vibration wave. A screening design of 3 factors with 2 central points was planned. An improvement in wear resistance and topology when the ultrasonic vibration assistance is applied, is expected due to the effects of the ball burnishing procedure on the microstructure of the samples. [ABSTRACT FROM AUTHOR]

Complex surgery and radiotherapy are the central pillars of loco-regional oncology treatment. This paper describes the reimbursement schemes used in radiation and complex surgical oncology, reports on literature and policy reviews. A systematic review of the literature of the reimbursement models has been carried out separately for radiotherapy and complex cancer surgery based on PRISMA guidelines. Using searches of PubMed and grey literature, we identified articles from scientific journals and reports published since 2000 on provider payment or reimbursement systems currently used in radiation oncology and complex cancer surgery, also including policy models. Most European health systems reimburse radiotherapy using a budget-based, fee-for-service or fraction-based system; while few reimburse services according to an episode-based model. Also, the reimbursement models for cancer surgery are mostly restricted to differences embedded in the DRG system and adjustments applied to the fees, based on the complexity of each surgical procedure. There is an enormous variability in reimbursement across countries, resulting in different incentives and different amounts paid for the same therapeutic strategy. A reimbursement policy, based on the episode of care as the basic payment unit, is advocated for. Innovation should be tackled in a two-tier approach: one defining the common criteria for reimbursement of proven evidence-based interventions; another for financing emerging innovation with uncertain definitive value. Relevant clinical and economic data, also collected real-life, should support reimbursement systems that mirror the actual cost of evidence-based practice. [ABSTRACT FROM AUTHOR]

Cervicogenic headache is defined as a unilateral headache associated with a lack of range of motion. The effect of manual therapy applied to the upper cervical spine combined with cervical exercises in this patient population is currently unknown. To determine if adding manual therapy to an exercise and home-exercise program is more effective by reducing symptoms and improving function in the short- and mid-term than just applying exercises in patients with cervicogenic headache. Randomized controlled trial. 40 participants with cervicogenic headache were recruited (20 = Manual Therapy + Exercise and 20 = Exercise). Each group received four 20-min sessions weekly and a home exercise regime. Upper cervical flexion and flexion-rotation test, HIT-6, headache intensity, craniocervical flexion test, pain pressure thresholds, GROC-scale, and adherence to self-treatment were measured at the beginning and end of the intervention, and again at 3-(short-term) and 6-month (mid-term) follow-ups. The Manual Therapy + Exercise group showed a statistically significant improvement in all short- and mid-term variables (p <.05) compared to the exercise group except for the variable pain pressure thresholds first metacarpal joint right and left short-term and adherence to self-treatment short-term. Four 20-min sessions of manual therapy and an exercise protocol along with a home exercise regime is more effective in the short and mid-term than an exercise protocol and a home exercise regime for patients with cervicogenic headache. • These patients with headache and upper cervical spine restriction do not respond well to isolated cervical training. • Adding upper cervical spine manual therapy to cervical training significantly improves headaches in these patients. • Restoring upper cervical joint function with manual therapy facilitates and improves the results of cervical training. [ABSTRACT FROM AUTHOR]

As the healthcare needs of transgender patients become increasingly recognized and supported, gender-affirming surgery services are in increasing demand. However, establishing a gender-affirming surgery service is unlike many other surgical specialties and requires unique expertise and administrative support. The aim of this article is to outline the considerations for starting a gender-affirming surgery service and identify pearls for success. In this article, we describe the critical components of building and maintaining a successful gender-affirming surgery service. We intersperse findings from our own experiences developing a gender-affirming surgery service. A successful gender-affirming surgery service starts by developing a clear vision of the patient population within your hospital system's area, as well as the design of your center. Establishing a center relies on early engagement of hospital administration and its continued support. A multidisciplinary team with intensive interpersonal and operative training offers the best patient experience and surgical outcomes. By following these steps, our service has been able to provide gender-affirming surgery to more than 200 patients since its inception. Future goals entail partnerships with other institutions and continued outcomes evaluation to ensure sustained success of all gender-affirming surgery services. Although there are unique challenges and considerations for establishing a gender-affirming surgery service, careful planning and stakeholder engagement allow providers to deliver high-quality care. We hope that our experience can serve as a model for future much needed gender-affirming surgery services. [ABSTRACT FROM AUTHOR]

• According to this study, people with CHF experience the possibility of near death on a daily basis. • The fear of death and suicidal ideations are the most negative experiences. • Patients express desires to talk about death-related issues. Patientsneed to talk about death-related issues when their condition is stable. Chronic heart failure (CHF) is a syndrome that greatly impacts people's lives. Due to the poor prognosis of CHF, together with the frequent exacerbations of symptoms, death is a topic that is very present in the lives of patients with CHF. To explore thoughts about death experienced by patients with chronic heart failure in their daily lives. A hermeneutic phenomenological study was carried out. Conversational interviews were conducted with 20 outpatients with chronic heart failure. Analysis of the responses was based on the method proposed by van Manen. From the analysis, four main themes emerged: (1) Feeling afraid of the possibility of dying; (2) Acceptance of the possibility of death; (3) Desiring death for relief from suffering; and (4) Striving to continue living to enjoy family. This study presents, as a novel finding, that people with CHF experience the possibility of near death on a daily basis. This experience, which they must encounter on their own, makes them afraid. In addition, some of them, in view of the discomfort they are living, wish to die, with some even considering committing suicide. [ABSTRACT FROM AUTHOR]

Idiopathic recurrent acute pancreatitis (IRAP) describes frequent episodes of pancreatitis without an etiology found using current testing. We compared the natural history of IRAP with recurrent acute pancreatitis with genetic mutations. Retrospective cohort of patients with recurrent acute pancreatitis (≥2 episodes) and negative conventional testing. All patients had ≥1 episode after cholecystectomy and completed genetic testing. Primary outcomes were chronic pancreatitis incidence, pancreatic cancer, and mortality. Secondary outcomes included opioid and ERCP utilization. 128 patients met criteria for presumed IRAP. 35 patients met criteria for true IRAP. 12 patients had recurrent acute pancreatitis with gene mutations. Chronic pancreatitis developed in 27 (77.1%) IRAP patients over a median of 6 years. Chronic pancreatitis incidence was similar in IRAP and CFTR mutation carriers; but developed later in SPINK1 carriers. No patients developed pancreatic cancer or died from pancreatic-related causes. Patients were frequently treated with oral opioids and ERCP, without significant differences within or between groups. IRAP and pancreatitis in mutation carriers is associated with chronic pancreatitis. Important differences in natural history were observed, but no association was found with cancer or pancreas-related mortality. Efforts to understand the genetic contributions to IRAP, minimize opioids and unnecessary ERCPs are encouraged. [ABSTRACT FROM AUTHOR]

• In Latin America FCS is diagnosed late on the course of the disease. • FCS is characterized by heterogeneity on the occurrence of pancreatitis. • Pancreatitis and secondary diabetes are frequently seen. • Molecular diagnosis is unusual. • Low awareness of the disease amongst health professionals contributes to inadequate care. Familial chylomicronemia syndrome (FCS) is a rare genetic disorder characterized by extremely high triglyceride levels due to impaired clearance of chylomicrons from plasma. This paper is the result of a panel discussion with Latin American specialists who raised the main issues on diagnosis and management of FCS in their countries. Overall FCS is diagnosed late on the course of the disease, is characterized by heterogeneity on the occurrence of pancreatitis, and remains a long time in care of different specialists until reaching a lipidologist. Pancreatitis and secondary diabetes are frequently seen, often due to late diagnosis and inadequate care. Molecular diagnosis is unusual; however, loss of function variants on the lipoprotein lipase gene are apparently the most frequent etiology. A founder effect of the glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 gene has been described in the northeast of Brazil. Low awareness of the disease amongst health professionals contributes to inadequate care and an inadequate patient journey. [ABSTRACT FROM AUTHOR]