Study of an Enterococcus faecium strain isolated from an artisanal Mexican cheese, whole-genome sequencing, comparative genomics, and bacteriocin expression.

Enterococci are ubiquitous microorganisms in almost all environments, from the soil we step on to the food we eat. They are frequently found in naturally fermented foods, contributing to ripening through protein, lipid, and sugar metabolism. On the other hand, these organisms are also leading the current antibiotic resistance crisis. In this study, we performed whole-genome sequencing and comparative genomics of an Enterococcus faecium strain isolated from an artisanal Mexican Cotija cheese, namely QD-2. We found clear genomic differences between commensal and pathogenic strains, particularly in their carbohydrate metabolic pathways, resistance to vancomycin and other antibiotics, bacteriocin production, and bacteriophage and CRISPR content. Furthermore, a bacteriocin transcription analysis performed by RT-qPCR revealed that, at the end of the log phase, besides enterocins A and X, two putative bacteriocins not reported previously are also transcribed as a bicistronic operon in E. faecium QD-2, and are expressed 1.5 times higher than enterocin A when cultured in MRS broth.

Personality traits as identity threat cues: Stigmatized perceivers infer prejudice from disagreeableness.

OBJECTIVE: Across four studies, we examined whether certain personality traits cue prejudice and serve as identity threat cues. BACKGROUND: Stigmatized group members may be vigilant to personality cues that signal prejudice. METHOD: In Study 1 (N = 76), perceivers selected traits and behaviors associated with disagreeableness and closedness to experience as indicators of prejudice. In Studies 2-4, perceivers with stigmatized identities (Total N = 907) learned about a target person who was depicted as disagreeable or agreeable (Studies 2 and 3) and as disagreeable or another trait matched on perceived negativity (i.e., low in conscientiousness, Study 4). RESULTS: Participants perceived the disagreeable target as more discriminatory and hierarchy-endorsing (Studies 2-4), more morally disengaged (Study 3), and more likely to discriminate against stigmatized identity groups (Studies 2 and 4) than the agreeable or low conscientious targets. The relationship between target disagreeableness and perceived discrimination was partially explained by higher perceived hierarchy endorsing beliefs (Studies 2-4) and perceived moral disengagement (Study 3). CONCLUSIONS: This research finds that perceivers with stigmatized identities utilize target disagreeableness as a cue of identity threat, inferring that disagreeable people are more likely to be discriminatory, prejudicial, and hierarchy-endorsing than agreeable and low conscientious people.

Asthma and anxiety development in Australian children and adolescents.

BACKGROUND: Evidence has suggested a bidirectional association between both the effects and onset of asthma and anxiety. The direction of this association in children and adolescents is less clear. The study evaluates whether anxiety in children is associated with the development of later asthma or, by contrast, whether asthma in children precedes anxiety. METHODS: Parental reports from 9369 children at two age points (4-5 and 14-15 years old) and from baby (B) (recruited at birth in 2004) and kindergarten (K) (recruited at 4-5 years of age in 2004) cohorts of the Longitudinal Study of Australian Children (LSAC) were analyzed. Asthma cases were defined as reports of doctor-diagnosed asthma and the use of asthma medication or/and wheezing. Scores of the Strengths and Difficulties Questionnaire (SDQ) defined anxiety. RESULTS: We found a unidirectional association between asthma in children aged 4-5 years and future anxiety development in weighted generalized linear adjusted models (B cohort OR (CI 95%) = 1.54 (1.14-2.08); K cohort OR (CI 95%) = 1.87 (1.40-2.49)). Children with asthma (no anxiety at 4 years) had a higher prevalence of anxiety in adolescence compared with nonasthmatics (B cohort = 26.8% vs 17.6%: K cohort = 27.7% vs 14.3%). Anxiety in childhood was not associated with the development of asthma from 6 years old to adolescence. CONCLUSION: Australian children with asthma have a greater risk of developing anxiety from 6 to 15 years old. This suggests that early multidisciplinary intervention may be required to support children with asthma to either prevent the increased risk of anxiety and/or promote optimal anxiety management.

Antitumor activity of bovine lactoferrin and its derived peptides against HepG2 liver cancer cells and Jurkat leukemia cells.

Liver cancer and leukemia are the fourth and first causes, respectively, of cancer death in children and adults worldwide. Moreover, cancer treatments, although beneficial, remain expensive, invasive, toxic, and affect the patient's quality of life. Therefore, new anticancer agents are needed to improve existing agents. Because bovine lactoferrin (bLF) and its derived peptides have antitumor properties, we investigated the anticancer effect of bLF and LF peptides (LFcin17-30, LFampin265-284 and LFchimera) on liver cancer HepG2 cells and leukemia Jurkat cells. HepG2 and Jurkat cells were incubated with bLF and LF peptides. Cell proliferation was quantified by an MTT assay, and cell morphology and damage were visualized by light microscopy or by phalloidin-TRITC/DAPI staining. The discrimination between apoptosis/necrosis was performed by staining with Annexin V-Alexa Fluor 488 and propidium iodide, and the expression of genes related to apoptosis was analyzed in Jurkat cells. Finally, the synergistic interaction of bLF and LF peptides with cisplatin or etoposide was assessed by an MTT assay and the combination index. The present study demonstrated that bLF and LF peptides inhibited the viability of HepG2 and Jurkat cells, inducing damage to the cell monolayer of HepG2 cells and morphological changes in both cell lines. bLF, LFcin17-30, and LFampin265-284 triggered apoptosis in both cell lines, whereas LFchimera induced necrosis. These results suggested that bLF and LF peptides activate apoptosis by increasing the expression of genes of the intrinsic pathway. Additionally, bLF and LF peptides synergistically interacted with cisplatin and etoposide. In conclusion, bLF and LF peptides display anticancer activity against liver cancer and leukemia cells, representing an alternative or improvement in cancer treatment.

Identifying the needs of older people living with HIV (≥ 50 years old) from multiple centres over the world: a descriptive analysis.

BACKGROUND: Older People Living with HIV (OPWH) combine both aging and HIV-infection features, resulting in ageism, stigma, social isolation, and low quality of life. This context brings up new challenges for healthcare professionals, who now must aid patients with a significant comorbidity burden and polypharmacy treatments. OPWH opinion on their health management is hardly ever considered as a variable to study, though it would help to understand their needs on dissimilar settings. METHODS: We performed a cross-sectional, comparative study including patients living with HIV aged ≥50 years old from multiple centers worldwide and gave them a survey addressing their perception on overall health issues, psychological problems, social activities, geriatric conditions, and opinions on healthcare. Data was analyzed through Chisquared tests sorting by geographical regions, age groups, or both. RESULTS: We organized 680 participants data by location (Center and South America [CSA], Western Europe [WE], Africa, Eastern Europe and Israel [EEI]) and by age groups (50- 55, 56-65, 66-75, >75). In EEI, HIV serostatus socializing and reaching undetectable viral load were the main problems. CSA participants are the least satisfied regarding their healthcare, and a great part of them are not retired. Africans show the best health perception, have financial problems, and fancy their HIV doctors. WE is the most developed region studied and their participants report the best scores. Moreover, older age groups tend to live alone, have a lower perception of psychological problems, and reduced social life. CONCLUSIONS: Patients' opinions outline region- and age-specific unmet needs. In EEI, socializing HIV and reaching undetectable viral load were the main concerns. CSA low satisfaction outcomes might reflect high expectations or profound inequities in the region. African participants results mirror a system where general health is hard to achieve, but HIV clinics are much more appealing to them. WE is the most satisfied region about their healthcare. In this context, age-specific information, education and counseling programs (i.e. Patient Reported Outcomes, Patient Centered Care, multidisciplinary teams) are needed to promote physical and mental health among older adults living with HIV/AIDS. This is crucial for improving health-related quality of life and patient's satisfaction.

Ultrasound findings in painful spastic hip. Muscle thickness in children with cerebral palsy.

BACKGROUND: In cerebral palsy (CP), spasticity is the dominant symptom and hip pain is one of the most common secondary conditions. Aetiology is not clear. Musculoskeletal ultrasound (MSUS) is a low-cost, non-invasive imaging technique that allows assessment of structural status, dynamic imaging, and quick contralateral comparison. OBJECTIVE: A retrospective case-matched-control study. To investigate associated factors with painful spastic hip and to compare ultrasound findings (focusing on muscle thickness) in children with CP vs. typically developing (TD) peers. SETTING: Paediatric Rehabilitation Hospital in Mexico City, from August to November 2018. PARTICIPANTS: 21 children (13 male, 7 + 4.26 years) with CP, in Gross Motor Function Classification System (GMFCS) levels IV to V, with spastic hip diagnosis (cases) and 21 children age- and sex-matched (7 + 4.28 years) TD peers (controls). CHARACTERISTICALLY DATA: Sociodemographic data, CP topography, degree of spasticity, mobility arch, contractures, Visual Analog Scale (VAS), GMFCS, measurements of the volumes of eight major muscles of the hip joint and MSUS findings of both hips. RESULTS: All children with CP group reported chronic hip pain. Associated factors for hip pain (high VAS hip pain score) were degree of hip displacement (percentage of migration), Ashworth Level, GMFCS level V. No synovitis, bursitis or tendinopathy was found. Significant differences (p < 0.05) were found in muscle volumes in all hip muscles (right and left) except in the right and left adductor longus. CONCLUSION: Though possibly the most important issue with diminished muscle growth in CP children is the influence on their long-term function, it is likely that training routines that build muscle size may also increase muscle strength and improve function in this population. To improve the choice of treatments in this group and maintain muscle mass, longitudinal investigations of the natural history of muscular deficits in CP as well as the impact of intervention are needed.

Open science, communal culture, and women's participation in the movement to improve science.

Science is undergoing rapid change with the movement to improve science focused largely on reproducibility/replicability and open science practices. This moment of change-in which science turns inward to examine its methods and practices-provides an opportunity to address its historic lack of diversity and noninclusive culture. Through network modeling and semantic analysis, we provide an initial exploration of the structure, cultural frames, and women's participation in the open science and reproducibility literatures (n = 2,926 articles and conference proceedings). Network analyses suggest that the open science and reproducibility literatures are emerging relatively independently of each other, sharing few common papers or authors. We next examine whether the literatures differentially incorporate collaborative, prosocial ideals that are known to engage members of underrepresented groups more than independent, winner-takes-all approaches. We find that open science has a more connected, collaborative structure than does reproducibility. Semantic analyses of paper abstracts reveal that these literatures have adopted different cultural frames: open science includes more explicitly communal and prosocial language than does reproducibility. Finally, consistent with literature suggesting the diversity benefits of communal and prosocial purposes, we find that women publish more frequently in high-status author positions (first or last) within open science (vs. reproducibility). Furthermore, this finding is further patterned by team size and time. Women are more represented in larger teams within reproducibility, and women's participation is increasing in open science over time and decreasing in reproducibility. We conclude with actionable suggestions for cultivating a more prosocial and diverse culture of science.

To the bone: Prevalence and correlates of depression and anxiety among orthopedic residents in Mexico.

OBJECTIVE: The present study examined among orthopedic residents the relationship between the presence of depressive or anxious symptoms and the degree of perfectionism, perceived work-related distress, and involvement in the care of patient(s) who died. METHOD: A cross-sectional online survey based on self-reported measures was used to collect the data from October 2019 to April 2021. RESULTS: The sample consisted of 642 orthopedic residents (50.6% response rate; 70.9% male; average age 29.8 years old). A total of 12.5 and 18.4% reported depressive or anxious symptoms, respectively. On a scale of 0-100, the mean score of perceived work-related distress was 51.9. A third (33.6%) reported being involved in the care of patient(s) who had died. Higher levels of perceived work-related distress and higher scores on the indecision of action/perfectionism dimension were associated with depressive and anxious symptoms. Being involved in the care of patient(s) who had died was associated with having anxious symptoms (OR = 1.79; 95%CI = 1.18-2.72). CONCLUSIONS: These results highlight the need for the systematic monitoring of the mental health status of orthopedic residents in Mexico, particularly those who report a high level of work-related distress or perfectionism or who have recently experienced the death of a patient.

N-(levodopa) chitosan derivative based on click chemistry shows biological functionality in brain cells.

OBJECTIVE: To develop N-(levodopa) chitosan derivatives through click chemistry to study their effect in brain cells.Significance: This study presents a proof-of-concept that macromolecules such as N-(Levodopa) chitosan derivatives traverse brain cell membranes and induce biomedical functionalities. METHODS: Through click chemistry, we developed N-(levodopa) chitosan derivatives. They were physically and chemically characterized by FT-IR, 1H-NMR, TGA and Dynamic Light Scattering analyses. Solution and nanoparticles of N-(levodopa) chitosan derivatives were tested in primary cell cultures from the postnatal rat olfactory bulb, substantia nigra and corpus callosum. Ca2+ imaging and UPLC experiments were used to investigate if the biomaterial modulated the brain cell physiology. RESULTS: N-(levodopa) chitosan derivatives induced intracellular Ca2+ responses in primary cell cultures of the rat brain. UPLC experiments indicated that levodopa attached to chitosan was converted into dopamine by brain cells. CONCLUSION: The present study shows that N-(levodopa) chitosan may be useful to develop new treatment strategies, which could serve as molecular reservoirs of biomedical drugs to treat degenerative disorders of the nervous system.

Intensity-modulated radiotherapy and chemotherapy for canine right atrial tumors: A retrospective study of seven dogs.

Most primary cardiac tumors in dogs are located in the right atrium/atrial appendage, with hemangiosarcoma being the most common. The aims of this retrospective, case series were to describe outcomes for seven dogs with right atrial tumors treated with hypofractionated intensity-modulated radiotherapy and concurrent vinblastine and propranolol. One dog had a complete response, four dogs had partial responses and two dogs had stable disease after treatment. Effusions resolved in all dogs. Median progression-free survival was 290 days. Five dogs died from metastatic disease, one dog from unrelated neoplasia, and one dog is alive. Median overall survival was 326 days. Three dogs with confirmed hemangiosarcoma survived 244, 326, and 445 days. Two dogs developed clinically significant, but nonfatal, cardiac arrhythmias. One dog that received three courses of radiation had subclinical myocardial and arterial fibrosis at necropsy. Hypofractionated chemoradiotherapy was well tolerated and may provide clinical benefit in dogs with right atrial tumors.

Mixed methods evaluation of simulation-based training for postpartum hemorrhage management in Guatemala.

BACKGROUND: To assess if simulation-based training (SBT) of B-Lynch suture and uterine balloon tamponade (UBT) for the management of postpartum hemorrhage (PPH) impacted provider attitudes, practice patterns, and patient management in Guatemala, using a mixed-methods approach. METHODS: We conducted an in-country SBT course on the management of PPH in a governmental teaching hospital in Guatemala City, Guatemala. Participants were OB/GYN providers (n = 39) who had or had not received SBT before. Surveys and qualitative interviews evaluated provider knowledge and experiences with B-Lynch and UBT to treat PPH. RESULTS: Multiple-choice surveys indicated that providers who received SBT were more comfortable performing and teaching B-Lynch compared to those who did not (p = 0.003 and 0.005). Qualitative interviews revealed increased provider comfort with B-Lynch compared to UBT and identified multiple barriers to uterine balloon tamponade implementation. CONCLUSIONS: Simulation-based training had a stronger impact on provider comfort with B-Lynch compared to uterine balloon tamponade. Qualitative interviews provided insight into the challenges that hinder uptake of uterine balloon tamponade, namely resource limitations and decision-making hierarchies. Capturing data through a mixed-methods approach allowed for more comprehensive program evaluation.

Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era.

OBJECTIVE: To investigate the diagnostic value of implementing a stepwise genetic testing strategy (SGTS) in genetically unsolved cases with dystrophinopathies. METHODS: After routine genetic testing in 872 male patients with highly suspected dystrophinopathies, we identified 715 patients with a pathogenic DMD variant. Of the 157 patients who had no pathogenic DMD variants and underwent a muscle biopsy, 142 patients were confirmed to have other myopathies, and 15 suspected dystrophinopathies remained genetically undiagnosed. These 15 patients underwent a more comprehensive evaluation as part of the SGTS pipeline, which included the stepwise analysis of dystrophin mRNA, short-read whole-gene DMD sequencing, long-read whole-gene DMD sequencing and in silico bioinformatic analyses. RESULTS: SGTS successfully yielded a molecular diagnosis of dystrophinopathy in 11 of the 15 genetically unsolved cases. We identified 8 intronic and 2 complex structural variants (SVs) leading to aberrant splicing in 10 of 11 patients, of which 9 variants were novel. In one case, a molecular defect was detected on mRNA and protein level only. Aberrant splicing mechanisms included 6 pseudoexon inclusions and 4 alterations of splice sites and splicing regulatory elements. We showed for the first time the exonisation of a MER48 element as a novel pathogenic mechanism in dystrophinopathies. CONCLUSION: Our study highlights the high diagnostic utility of implementing a SGTS pipeline in dystrophinopathies with intronic variants and complex SVs.

Validation of an instrument to assess food diversity in women of childbearing age in Medellín, Colombia.

OBJECTIVE: To validate a Food Diversity Questionnaire (CDA, for its name in Spanish) that identifies the prevalence of the risk of deficiency in the intake of eleven micronutrients. DESIGN: The CDA paper form, an online application for data entry and handling, was designed and compared with the 24-h recall (24HR) as a reference method. All data were processed in Personal Computer Software for Intake Distribution Estimation (PC-SIDE) v1 software. A descriptive analysis and comparisons between prevalence, concordance and reproducibility analyses were performed. SETTING: Medellín, Colombia. PARTICIPANTS: Women of childbearing age between 19 and 50 years (n 186) who worked for the Buen Comienzo programme in 2019. RESULTS: When comparing the adjusted 24HR technique and the CDA, there was no significant difference in population-level data at risk of deficiency in any micronutrient intake. However, based on individual-level data of the best linear unbiased predictor, the concordance analyses were weak, and although agreements were high according to the diagnostic performance tests, a good ability to detect deficiency was only observed in a few nutrients: vitamin A 100·0 %, Ca 98·7 %, Fe 92·8 %, folates 91·6 %, and pyridoxine 81·8 %. CONCLUSIONS: The CDA validated in this study is useful and faster at evaluating population-level data at risk of deficiency in the intake of Ca, Fe, Zn, thiamine, riboflavin, niacin, pyridoxine, folates, vitamin B12, vitamin C and vitamin A. Based on individual-level data, a good ability to detect deficiencies was observed in the intake of vitamin A, Ca, Fe, folates and pyridoxine.

Effect of fatigue loading and failure mode of different ceramic implant abutments.

STATEMENT OF PROBLEM: Currently many options are available for restoring a dental implant, although the ideal implant abutment for withstanding the occlusal load and the restorative material for fulfilling the esthetic need remains unclear. Zirconia (Zir) abutments offer good esthetics, but concerns still remain regarding their fracture strength, complex fabrication, and higher cost as compared with those of titanium (Ti) base abutments offering lower cost, acceptable esthetics, and a straightforward procedure. PURPOSE: The purpose of this in vitro study was to evaluate the fracture strength and failure mode of single-tooth Zir and Ti base implant abutments with fatigue loading. MATERIAL AND METHODS: Forty restorations were included using 4 different types of abutment-restorations. Zir abutments with lithium disilicate crowns (ZirLd); titanium base abutments with custom Zir abutments and lithium disilicate crowns (TiZirLd); titanium base abutments with monolithic lithium disilicate abutment-crowns (TiLd); titanium base abutments with monolithic polymer-infiltrated ceramic abutment-crowns (TiEn). Specimens were subjected to a progressive cyclic loading by using a custom-made mastication simulator at a frequency of 1.4 Hz starting with a load of 88 N followed by stages of 170, 210, 250, and 290 N for a maximum of 20 000 cycles each or until fracture occurred. The number of cycles, maximum load, and failure modes were recorded. Statistical analysis was done by using the Mann-Whitney U test (α=.05). RESULTS: Group TiEn showed a lower resistance to fatigue, with a mean ±standard deviation of 5054 ±123.3 cycles subjected to a mean force of 170 N. Groups ZirLd and TiLd resisted higher forces without fracture 13452.6 ±7094.3 cycles, and load of 178 ±16.9 N, followed by the TiLd group with a mean ±standard deviation of 25798.6 ±5498.7 cycles, and load of 202 ±16.9 N, while the TiZirLd group showed a mean of 48235.4 cycles subjected to a mean force of 258 N. The failure mode observed in the TiEn occurred only in the ceramic, whereas in the ZirLd and TiLd group, it was above the shoulder level of the Ti base abutment. Even though the TiZirLd group was able to withstand higher loads and a higher number of cycles, the failures were catastrophic and presented fractures of the titanium-base abutment and prosthetic screw. CONCLUSIONS: The TiZirLd, ZirLd, and TiLd abutment-restorations have the potential to withstand the average physiological occlusal forces that occur in the anterior region. The group with the higher fatigue resistance was TiZirLd, although care should be taken with patients presenting parafunctional habits since the failure mode can be catastrophic. Also, polymer-infiltrated ceramic is not suitable for a Ti base abutment when subjected to oblique loading.

Effects of dance in older adults at risk of falls. Exploratory review.

INTRODUCTION: Falls are considered a public health problem in older adults, and their approach should be multidimensional. Dance emerges as an intervention option that allows different schemes to be integrated in movement enhancement. OBJECTIVE: To determine the effects of dance on balance, motor function and activities of daily living in older adults at risk of falling. METHODS: Exploratory review of the effects of dance in older adults at risk of falling in terms of balance, gait, motor function and activities of daily living. Searches were carried out in PubMed, LILACS, Cochrane Central Register of Controlled Trials, PEDro, OTSeeker, full text articles were searched in different virtual libraries (ProQuest, Ovid, Ebsco, Science Direct) and manual search was also carried out. RESULTS: Nineteen studies were found, which report sessions of 45 to 60 minutes for 12 weeks. Dance can be considered a safe intervention that significantly decreases control intervention for balance and gait in older adults. CONCLUSIONS: The results of this work support that dance can be used as an interventional option in older adults at risk of falling.

INTRODUCCIÓN: Las caídas se consideran un problema de salud pública en los adultos mayores y su abordamiento debería ser multidimensional. La danza surge como una opción de intervención que permite integrar diferentes esquemas en la potenciación del movimiento. OBJETIVO: Determinar los efectos de la danza a nivel de equilibrio, función motora y actividades de la vida diaria en adultos mayores con riesgo de caer. MÉTODOS: Revisión exploratoria en torno a cuáles son los efectos de la danza en adultos mayores con riesgo de caer para mejor el equilibrio, la marcha, la función motora y las actividades de la vida diaria. Las búsquedas se llevaron a cabo en PubMed, LILACS, Registro Central Cochrane de Ensayos Clínicos Controlados, PEDro, OTSeeker, artículos en texto completo en las diferentes bibliotecas virtuales (ProQuest, Ovid, Ebsco, Science Direct) y búsqueda manual. RESULTADOS: Se encontraron 19 estudios que reportan sesiones de 45 a 60 minutos durante 12 semanas. La danza puede considerarse una intervención segura que disminuye significativamente la intervención de control para equilibrio y marcha en adultos mayores. CONCLUSIONES: Los resultados de este trabajo sustentan que se puede emplear la danza como una opción interventiva en adultos mayores que presentan riesgo de caer.

Bovine lactoferrin and lactoferrin peptides affect endometrial and cervical cancer cell lines.

Cervical, uterine, and ovarian cancers are the most common malignancies of the female genital tract worldwide. Despite advances in prevention, early diagnosis, effective screening, and treatment programs, mortality remains high. Consequently, it is important to search for new treatments. The activity of bovine lactoferrin (bLF) and LF peptides against several types of cancer has been studied; however, only a few studies report the effect of bLF and LF peptides against cervical and endometrial cancers. In this study, we explored the effect of bLF as well as LF chimera and its constituent peptides LFcin17-30 and LFampin265-284 on the viability of cervical (HeLa, SiHa) and endometrial (KLE, HEC-1A) cancer cell lines. Cell proliferation was quantified with an MTT assay, cell morphological changes and damage were determined by Giemsa and phalloidin-TRITC and DAPI staining, and apoptotic and necrotic cells were identified by Alexa Fluor® 488 Annexin V and propidium iodide staining. Additionally, the effect of combinations of bLF and LF peptides with cisplatin was assessed. bLF and LF peptides inhibited the proliferation of uterine cancer cells and caused cellular morphological changes and damage to cell monolayers. bLF induced apoptosis, LFcin17-30 and LFampin265-284 induced apoptosis and necrosis, and LF chimera induced necrosis. Additionally, bLF and LF chimera showed an additive interaction with cisplatin against uterine cancer cells.

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.

The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the contribution of ARID. Here, we used a genotype-driven approach to study the genetic landscape of ID in the founder population of Finland. A total of 39 families with syndromic and non-syndromic ID were analyzed using exome sequencing, which revealed a variant in a known ID gene in 27 families. Notably, 75% of these variants in known ID genes were de novo or suspected de novo (64% autosomal dominant; 11% X-linked) and 25% were inherited (14% autosomal recessive; 7% X-linked; and 4% autosomal dominant). A dual molecular diagnosis was suggested in two families (5%). Via additional analysis and molecular testing, we identified three cases with an abnormal molecular karyotype, including chr21q22.12q22.2 uniparental disomy with a mosaic interstitial 2.7 Mb deletion covering DYRK1A and KCNJ6. Overall, a pathogenic or likely pathogenic variant was identified in 64% (25/39) of the families. Last, we report an alternate inheritance model for 3 known ID genes (UBA7, DDX47, DHX58) and discuss potential candidate genes for ID, including SYPL1 and ERGIC3 with homozygous founder variants and de novo variants in POLR2F and DNAH3. In summary, similar to other European populations, de novo variants were the most common variants underlying ID in the studied Finnish population, with limited contribution of ARID to ID etiology, though mainly driven by founder and potential founder variation in the latter case.

Integration of mental health comorbidity in medical specialty programs in 20 countries.

METHODS: A systematic analysis was performed of the medical specialization academic programs of 20 different countries to establish which medical specialties take into account mental health issues in the specialty curricular design and which mental health content these programs address. The criteria that were explored in the educational programs include: 1) name of the medical specialties that take into account mental health content in curriculum design, 2) name of the mental health issues addressed by these programs. After independent review and data extraction, paired investigators compared the findings and reached consensus on all discrepancies before the final presentation of the data. Descriptive statistics evaluated the frequency of the data presented. RESULTS: Internal medicine, family medicine, neurology, pediatrics and geriatrics were the specialties that included mental health topics in their programs. In four countries: Bangladesh, Serbia, the Netherlands and France, 50%of all graduate specialty training programs include mental health content. In ten countries: Germany, Sweden, the United Kingdom, Mexico, Belgium, India, Russia, Canada, Israel and Spain, between 20% and 49% of all graduate specialty training programs include mental health content. In six countries - Brazil, Chile, Colombia, Croatia, Kenya, and the United States-less than 20% of all graduate specialty training programs include mental health content. DISCUSSION: The proposal that we have made in this article should be taken into account by decision-makers, in order to complement the different postgraduate training programs with mental health issues that are frequently present with other physical symptoms. It is not our intention that the different specialists know how to treat psychiatric comorbidities, but rather pay attention to their existence and implications in the diagnosis, evolution and prognosis of many other diseases. The current fragmentation of medicine into ever finer specialties makes the management of comorbidity ever more difficult: a reorientation of post- graduate training might improve the situation.

Identifying Risk Factors for Self-reported Mental Health Problems in Psychiatry Trainees and Psychiatrists in Mexico.

OBJECTIVE: The objective was to determine and compare demographic features, professional activities and adversities, physical health conditions, and self-care behaviors related to the most frequently self-reported mental health problems among psychiatrists and psychiatry trainees. METHODS: A cross-sectional, retrospective, comparative study was conducted on a total of 330 (48.2%) psychiatry trainees and 355 (51.8%) psychiatrists from Mexico through an online survey. Demographic features, professional activities and adversities, physical and mental health problems, self-care behaviors, and social support were examined. Comparative analyses and multiple logistic regression models were performed. RESULTS: Major depression, anxiety, and burnout were the most common mental health problems reported with a higher frequency of anxiety disorders in psychiatry trainees. Being a woman, having a physical health problem, and lack of restful sleep were the main risk factors in both groups. Consultation in the government sector and having patients with severe suicidal ideation affected more psychiatry trainees. Perceived discrimination and inadequate eating schedules were risk factors for mental health problems for psychiatrists. CONCLUSION: Psychiatry trainees constitute a vulnerable group for anxiety disorders. Particular attention should be paid to how students cope with the training experience to determine whether additional support is required. These professionals face major stressors leading to a high prevalence of depression, burnout, and anxiety. Encouraging psychiatrists to have better health habits is a step in the right direction, which must be accompanied by tangible organizational avenues to do so and creating a culture that truly promotes self-care.

[Ingestion of multiple magnets in pediatrics: endoscopic or surgical emergency?] / Ingestión de múltiples imanes en pediatría: ¿emergencia endoscópica o quirúrgica?

Ingestion of foreign bodies is common in the pediatric population. Most foreign bodies have a benign behavior and are usually eliminated without generating greater morbidity and mortality. In relation to the intake of magnets, its frequency has increased to the point that it currently represents a public health problem in the pediatric population. The ingestion of a single magnet does not generate any risk, but the ingestion of 2 or more of these, or even of magnets and metals in succession is considered an emergency since they can attract each other and can cause serious symptoms of intestinal obstruction, bleeding, fistulas, perforation and even intestinal necrosis. We present 2 pediatric patients, who ingested multiple magnets, in these cases we highlight the variety in the clinical presentation, as well as the complications presented in relation to a late diagnosis.