Early adversity and prosocial behavior in adolescents from Bogotá: a cross-sectional study.

BACKGROUND: The association between Adverse Childhood Experiences (ACEs), prosocial behavior, and depression (like other negative mental health outcomes) has not been thoroughly understood. This study aimed at evaluating their simultaneous association while controlling for key confounding variables. METHODS: A cross-sectional study was carried-out with 2918 secondary school students from seven charter schools located in low-resourced neighborhoods in Bogota (Colombia), 54.12% were female, and mean age was 13.81 years. The self-report instrument included demographic variables, well-being, mental health, risk behaviors and symptoms of psychopathology. Assessment of ACEs was done by a series of yes/no questions, prosocial behavior was evaluated with the corresponding subscale in the Strengths and Difficulties Questionnaire, and depression was assessed with the Self-Reporting Questionnaire. Associations were tested using the Spearman correlation coefficient, Z tests and Chi-square tests, and all primary outcome analyses were adjusted for potential confounding variables through multivariate logistic regression using depression as outcome. RESULTS: Mean exposure to ACEs was 3.15 events; those exposed to four or more obtained lower scores in well-being, satisfaction with life and family functioning, and higher scores in symptoms of psychopathology. For the prosocial behavior scores, 64.35% were classified as close to the average, 17.51% as slightly lowered, 11.91% as low, and 6.23% as very low; participants with higher levels of prosocial behavior showed lower scores in symptoms of psychopathology. While ACEs had a positive association with depressive symptoms (Odds Ratio [OR] 2.21, 95% confidence interval [CI] 1.67-2.94), prosocial behavior did not have a significant association with either ACEs or depressive symptoms in multivariate regression models. CONCLUSIONS: Novel studies should further elucidate the developmental pathways involving positive and negative mental health constructs to better understand the actual effectiveness of interventions that use these constructs in their design.

APOE3 Christchurch Heterozygosity and Autosomal Dominant Alzheimer's Disease.

BACKGROUND: Variants in APOE and PSEN1 (encoding apolipoprotein E and presenilin 1, respectively) alter the risk of Alzheimer's disease. We previously reported a delay of cognitive impairment in a person with autosomal dominant Alzheimer's disease caused by the PSEN1 E280A variant who also had two copies of the apolipoprotein E3 Christchurch variant (APOE3 Ch). Heterozygosity for the APOE3 Ch variant may influence the age at which the onset of cognitive impairment occurs. We assessed this hypothesis in a population in which the PSEN1 E280A variant is prevalent. METHODS: We analyzed data from 27 participants with one copy of the APOE3 Ch variant among 1077 carriers of the PSEN1 E280A variant in a kindred from Antioquia, Colombia, to estimate the age at the onset of cognitive impairment and dementia in this group as compared with persons without the APOE3 Ch variant. Two participants underwent brain imaging, and autopsy was performed in four participants. RESULTS: Among carriers of PSEN1 E280A who were heterozygous for the APOE3 Ch variant, the median age at the onset of cognitive impairment was 52 years (95% confidence interval [CI], 51 to 58), in contrast to a matched group of PSEN1 E280A carriers without the APOE3 Ch variant, among whom the median age at the onset was 47 years (95% CI, 47 to 49). In two participants with the APOE3 Ch and PSEN1 E280A variants who underwent brain imaging, 18F-fluorodeoxyglucose positron-emission tomographic (PET) imaging showed relatively preserved metabolic activity in areas typically involved in Alzheimer's disease. In one of these participants, who underwent 18F-flortaucipir PET imaging, tau findings were limited as compared with persons with PSEN1 E280A in whom cognitive impairment occurred at the typical age in this kindred. Four studies of autopsy material obtained from persons with the APOE3 Ch and PSEN1 E280A variants showed fewer vascular amyloid pathologic features than were seen in material obtained from persons who had the PSEN1 E280A variant but not the APOE3 Ch variant. CONCLUSIONS: Clinical data supported a delayed onset of cognitive impairment in persons who were heterozygous for the APOE3 Ch variant in a kindred with a high prevalence of autosomal dominant Alzheimer's disease. (Funded by Good Ventures and others.).

Nailing precision: a systematic review and meta-analysis of randomized controlled trials comparing piriformis and trochanteric entry points for femoral antegrade nailing.

INTRODUCTION: Entry point selection, a crucial aspect of femoral antegrade nailing, can impact nail fit and consequently fracture reduction. In adults, the standard entry portals used are the piriformis fossa and the tip of the greater trochanter. Previous systematic reviews comparing the two techniques have not been limited to Randomized Controlled Trials (RCTs) and have not consistently included the same available RCTs. MATERIALS AND METHODS: A systematic search of comparative studies regarding entry portal selection in femoral antegrade nailing was conducted on seven databases. Only Prospective RCTs comparing trochanteric and piriformis entry in the management of trochanteric or diaphyseal femur fractures were eligible for inclusion. RESULTS: Ultimately, only 6 RCTs were found eligible for inclusion. Five of the six included studies reported on operative time. The resulting mean difference (MD) illustrated a significant decrease in operative time by approximately 21.26 min (95% CI - 28.60 to - 13.92, p < 0.001) using trochanteric entry. Fluoroscopy exposure was reported on by four studies, however, only two studies were included in the analysis due to different reporting methods. Trochanteric entry used significantly less fluoroscopy than piriformis entry (MD -50.33 s, 95% CI - 84.441 to - 16.22, p = 0. 004). No significant difference in malalignment rates, delayed union rates, nonunion rates, pain scores, or complication rates was found. CONCLUSION: The significant differences found in operating time and fluoroscopy time align with those in other studies. While we were not able to pool the data on functional outcome scores, none of the included studies found a significant difference in scores by their last follow-up. Both approaches demonstrate comparable functional outcomes and safety profiles, indicating the choice of entry point should be at the discretion of the surgeon based on technique familiarity and fracture characteristics.

Syndesmotic screws, unscrew them, or leave them? A systematic review and meta-analysis of randomized controlled trials.

Background: Syndesmotic injuries are frequently stabilized using syndesmotic screws. Traditionally, these screws were routinely removed during the postoperative period, however recent literature has brought into question the necessity of routine removal, citing no change in functional outcomes and the inherent risks of a second surgery. Our study aimed to compare outcomes of patients undergoing routine syndesmotic screw removal versus those undergoing an on-demand approach to removal. Methods: A systematic search of studies comparing routine syndesmotic screw removal to on-demand screw removal following an acute ankle fracture, or an isolated syndesmotic injury was conducted across seven databases. Only Prospective randomized controlled trials were eligible for inclusion. Data reported on by at least 2 studies was pooled for analysis. Results: Three studies were identified that met inclusion and exclusion criteria. No significant difference in Olerud-Molander Ankle Score (MD -2.36, 95% CI -6.50 to 1.78, p = 0.26), American Orthopedic Foot and Ankle Hindfoot Score (MD -0.45, 95% CI -1.59 to .69, p = 0.44), or dorsiflexion (MD 2.20, 95% CI -0.50 to 4.89, p = 0.11) was found between the routine removal group and on-demand removal group at 1-year postoperatively. Routine removal was associated with a significantly higher rate of complications than on-demand removal (RR 3.02, 95% CI 1.64 to 5.54, p = 0.0004). None of the included studies found significant differences in pain scores or range of motion by 1-year postoperatively. Conclusion: Given the increased risk of complications with routine syndesmotic screw removal and the comparable outcomes when screws are retained, an as-needed approach to syndesmotic screw removal should be considered.

Correlation between research productivity during and after orthopaedic surgery training.

Background: Research experience is mandatory for all Orthopaedic Surgery residency programs. Although the allocation of required protected time and resources varies from program to program, the underlying importance of research remains consistent with mutual benefit to both residents and the program and faculty. Authorship and publications have become the standard metric used to evaluate academic success. This study aimed to determine if there is a correlation between the research productivity of Orthopaedic Surgery trainees and their subsequent research productivity as attending Orthopaedic Surgeons. Methods: Using the University of Mississippi Orthopaedic Residency Program Research Productivity Rank List, 30 different Orthopaedic Surgery Residency Programs were analyzed for the names of every graduating surgeon in their 2013 class. PubMed Central was used to screen all 156 physicians and collect all publications produced by them between 2008 and August 2022. Results were separated into two categories: Publications during training and Publications post-training. Results: As defined above, 156 Surgeons were analyzed for publications during training and post-training. The mean number of publications was 7.02 ± 17.819 post-training vs. 2.47 ± 4.313 during training, P < 0.001. The range of publication post-training was 0-124 vs. 0-30 during training. Pearson correlation between the two groups resulted in a value of 0.654, P < 0.001. Conclusion: Higher research productivity while training correlates to higher productivity post-training, but overall Orthopaedic surgeons produce more research after training than during. With the growing importance of research, more mentorship, time, and resources must be dedicated to research to instill and foster greater participation while in training.

Comparison of rerupture rates after operative and nonoperative management of Achilles tendon rupture in older populations: Systematic review and meta-analysis.

Background: This systematic review and meta-analysis investigated the treatment for Achilles tendon rupture (ATR) associated with the lowest risk of rerupture in older patients. Methods: Five databases were searched through September 2022 for studies published in the past 10 years analyzing operative and nonoperative ATR treatment. Studies were categorized as "nonelderly" if they reported only on patients aged 18-60 years. Studies that included at least 1 patient older than age 70 were categorized as "elderly inclusive." Of 212 studies identified, 28 were eligible for inclusion. Of 2965 patients, 1165 were treated operatively: 429 (37%) from elderly-inclusive studies and 736 (63%) from nonelderly studies. Of the 1800 nonoperative patients 553 (31%) were from nonelderly studies and 1247 (69%) were from elderly-inclusive studies. Results: For nonoperative treatment, the rate of rerupture was higher in nonelderly studies (83/1000 cases, 95% CI = 58, 113) than in elderly-inclusive studies (38/1000 cases, 95% CI = 22, 58; P<.001). For operative treatment no difference was found in the rate of rerupture between nonelderly studies (7/1000 cases, 95% CI = 0, 21) and elderly-inclusive studies (12/1000 cases, 95% CI = 0, 35; P<.78). Overall, operative treatment was associated with a rerupture rate of 1.5% (95% CI: 1.0%, 2.8%) (P<.001), which was lower than the 5% rate reported by other studies for nonoperative management (P<.001). Conclusion: Older patients may benefit more than younger patients from nonoperative treatment of ATR. More studies are needed to determine the age at which rerupture rates decrease among nonoperatively treated patients. Level of Evidence: 3.

Virtual Reality and Serious Videogame-Based Instruments for Assessing Spatial Navigation in Alzheimer's Disease: A Systematic Review of Psychometric Properties.

Over the past decade, research using virtual reality and serious game-based instruments for assessing spatial navigation and spatial memory in at-risk and AD populations has risen. We systematically reviewed the literature since 2012 to identify and evaluate the methodological quality and risk of bias in the analyses of the psychometric properties of VRSG-based instruments. The search was conducted primarily in July-December 2022 and updated in November 2023 in eight major databases. The quality of instrument development and study design were analyzed in all studies. Measurement properties were defined and analyzed according to COSMIN guidelines. A total of 1078 unique records were screened, and following selection criteria, thirty-seven studies were analyzed. From these studies, 30 instruments were identified. Construct and criterion validity were the most reported measurement properties, while structural validity and internal consistency evidence were the least reported. Nineteen studies were deemed very good in construct validity, whereas 11 studies reporting diagnostic accuracy were deemed very good in quality. Limitations regarding theoretical framework and research design requirements were found in most of the studies. VRSG-based instruments are valuable additions to the current diagnostic toolkit for AD. Further research is required to establish the psychometric performance and clinical utility of VRSG-based instruments, particularly the instrument development, content validity, and diagnostic accuracy for preclinical AD screening scenarios. This review provides a straightforward synthesis of the state of the art of VRSG-based instruments and suggests future directions for research.

Factors influencing living space utilization among older Afro-Colombian adults.

OBJECTIVES: Investigate the factors influencing life space utilization in older Afro-descendant adults residing in Tumaco, Colombia - a marginalized region of the country. DESIGN: This cross-sectional study included 388 Afro-descendant older adults. The study assessed living space using the Life Space Assessment (LSA) scale and collected demographic data. Cognitive levels were measured with the Mini-Mental State Examination (MMSE), and depressive symptoms were assessed using the Yesavage scale. Socio-emotional indicators were determined with the Medical Outcomes Study (MOS). The research employed linear and logistic regression models for data analysis. RESULTS: On average, participants scored 27.0 on the LSA scale. A lack of perceived income resulted in a 10.44-point decrease on the LSA scale. For each unit increase in the MOS-Instrumental Dimension score, the LSA score increased by 0.52 points (95% CI 0.17-0.87). As for cognitive performance (MMSE scale), each one-point increase resulted in a 0.69 decrease in the LSA score (95% CI -1.25 to -0.12). CONCLUSION: Socioeconomic disadvantages limit living space utilization, particularly in the Afro-descendant population. Yet, social support can enhance living space use despite environmental and economic constraints.

Changes in Treg and Breg cells in a healthy pediatric population.

The interpretation of clinical diagnostic results in suspected inborn errors of immunity, including Tregopathies, is hampered by the lack of age-stratified reference values for regulatory T cells (Treg) in the pediatric population and a consensus on which Treg immunophenotype to use. Regulatory B cells (Breg) are an important component of the regulatory system that have been poorly studied in the pediatric population. We analyzed (1) the correlation between the three immunophenotypic definitions of Treg (CD4+CD25hiCD127low, CD4+CD25hiCD127lowFoxP3+, CD4+CD25hiFoxP3+), and with CD4+CD25hi and (2) the changes in Treg and Breg frequencies and their maturation status with age. We performed peripheral blood immunophenotyping of Treg and Breg (CD19+CD24hiCD38hi) by flow cytometry in 55 healthy pediatric controls. We observed that Treg numbers varied depending on the definition used, and the frequency ranged between 3.3-9.7% for CD4+CD25hiCD127low, 0.07-1.6% for CD4+CD25hiCD127lowFoxP3+, and 0.24-2.83% for CD4+CD25hiFoxP3+. The correlation between the three definitions of Treg was positive for most age ranges, especially between the two intracellular panels and with CD4+CD25hi vs CD4+CD25hiCD127low. Treg and Breg frequencies tended to decline after 7 and 3 years onwards, respectively. Treg's maturation status increased with age, with a decline of naïve Treg and an increase in memory/effector Treg from age 7 onwards. Memory Breg increased progressively from age 3 onwards. In conclusion, the number of Treg frequencies spans a wide range depending on the immunophenotypic definition used despite a good level of correlation exists between them. The decline in numbers and maturation process with age occurs earlier in Breg than in Treg.

Subjective Cognitive and Communicative Complaints and Health-Related Quality of Life in Parkinson's Disease with and without Mild Cognitive Impairment.

INTRODUCTION: Mild Cognitive Impairment (MCI) is common in Parkinson's Disease (PD). Few studies have compared the Health-Related Quality of Life (HRQoL) in patients with and without MCI due to PD (PD-MCI), and its correlation to patients' subjective cognitive and communicative difficulties has not been explored. OBJECTIVE: We aimed to compare HRQoL in PD-MCI and PD without MCI (PD-nMCI), and explore its possible relationship to subjective cognitive and communicative complaints. METHODS: We included 29 PD-nMCI and 11 PD-MCI patients. The HRQoL was assessed with the Parkinson's Disease Questionnaire-39 (PDQ-39): its Cognition dimension was used as a measure of subjective cognitive complaints, its Communication dimension for subjective communicative complaints, and the summary index (PDQ-39 SI) as an indicator of HRQoL. Non-parametric partial correlations between the Cognition and Communication dimensions, and the adjusted PDQ-39 SI were conducted. RESULTS: PD-MCI patients had greater subjective cognitive and communicative complaints and worse HRQoL than PD-nMCI patients. In the PD-MCI group, both subjective cognitive and communicative complaints exhibited significant direct correlations with the adjusted HRQoL scores. CONCLUSIONS: HRQoL seems to be affected in PD-MCI, and it might be influenced by greater subjective cognitive and communicative complaints. Including patient-reported outcome measures of HRQoL, and providing cognitive and speech rehabilitation, as well as psychotherapeutic strategies to face these deficits can enhance the patient-centred approach in PD.

JAK2, CALR, and MPL Mutation Profiles in Colombian patients with BCR-ABL Negative Myeloproliferative Neoplasms.

Background: Among the chronic myeloproliferative neoplasms (MPNs) not associated with BCR-ABL mutations are polycythemia vera, primary myelofibrosis, and essential thrombocythemia. These diseases are caused by mutations in genes, such as the JAK2, MPL, and CALR genes, which participate in regulating the JAK-STAT signaling pathway. Objective: This study aimed to establish the frequencies of mutations in the JAK2, MPL, and CALR genes in a group of Colombian patients with a negative clinical diagnosis of BCR-ABL chronic myeloproliferative neoplasms. Methods: The JAK2 V617F and MPL W515K mutations and deletions or insertions in exon 9 of the CALR gene were analyzed in 52 Colombian patients with polycythemia vera, primary myelofibrosis, and essential thrombocythemia. Results: The JAK2V617F mutation was carried by 51.9% of the patients, the CALR mutation by 23%, and the MPL mutation by 3.8%; 23% were triple-negative for the mutations analyzed. In these neoplasms, 6 mutation types in CALR were identified, one of which has not been previously reported. Additionally, one patient presented a double mutation in both the CALR and JAK2 genes. Regarding the hematological results for the mutations, significant differences were found in the hemoglobin level, hematocrit level, and platelet count among the three neoplasms. Conclusion: Thus, this study demonstrates the importance of the molecular characterization of the JAK2, CALR and MPL mutations in Colombian patients (the genetic context of which remains unclear in the abovementioned neoplasms) to achieve an accurate diagnosis, a good prognosis, adequate management, and patient survival.

Antecedentes: Entre las neoplasias mieloproliferativas crónicas no asociadas con mutaciones BCR-ABL se encuentran la policitemia vera, la mielofibrosis primaria y la trombocitemia esencial. Estas enfermedades están causadas por mutaciones en genes, como los genes JAK2, MPL y CALR, que participan en la regulación de la vía de señalización JAK-STAT. Objetivo: Establecer las frecuencias de mutaciones en los genes JAK2, MPL y CALR en un grupo de pacientes colombianos con diagnóstico clínico negativo de NMP BCR-ABL. Metodos: Se analizaron las mutaciones y deleciones o inserciones JAK2 V617F y MPL W515K en el exón 9 del gen CALR en 52 pacientes colombianos con policitemia vera, mielofibrosis primaria y trombocitemia esencial. Resultados: La mutación JAK2V617F la portaban el 51.9% de los pacientes, la mutación CALR el 23.0% y la mutación MPL el 3.8%; El 23.0% fueron triple negativos para las mutaciones analizadas. En estas neoplasias se identificaron seis tipos de mutación en CALR, uno de los cuales no ha sido reportado previamente. Además, un paciente presentó una doble mutación tanto en el gen CALR como en el JAK2. En cuanto a los resultados hematológicos para las mutaciones, se encontraron diferencias significativas en el nivel de hemoglobina, el nivel de hematocrito y el recuento de plaquetas entre las tres neoplasias. Conclusiones: Así, este estudio demuestra la importancia de la caracterización molecular de las mutaciones JAK2, CALR y MPL en pacientes colombianos (cuyo contexto genético aún no está claro en las neoplasias antes mencionadas) para lograr un diagnóstico certero, un buen pronóstico, un manejo adecuado y una mejoría del paciente. supervivencia.

Psychopathological Risk in Siblings of Subjects with Attention-Deficit/Hyperactivity Disorder: A cross-Sectional Study.

OBJECTIVE: We aim to determine the prevalence of mental disorders in siblings of children with attention deficit hyperactivity disorder (ADHD), and to determine how psychosocial adversity factors relate to this psychopathology, in a low-middle income country (Colombia). METHODS: We evaluated subjects with ADHD diagnosed according to the DSM-5 criteria, one of their parents and one of their siblings (ages 8-19). We used the ADHD rating scale and a set of instruments to assess the presence of mental disorders as well as psychosocial adversity. RESULTS: We evaluated 74 trios formed by the index case with ADHD, one sibling and one of the parents. We found that 24.3% of the participating siblings also met the criteria for ADHD and another 24.3% for other psychiatric disorders. The risk of these siblings having ADHD increased further when one of the parents reported a history of ADHD. We also found that 28.3% of the families faced high levels of psychosocial adversity as per their scores in the Rutter Adversity Index. CONCLUSIONS: Siblings of subjects with ADHD showed a significant risk for ADHD and other mental disorders. That risk increased if a parent reported a history of ADHD and also when two or more psychosocial adversity factors were present. This study supports the importance of early detection in efforts to decrease the risk for other siblings.

Factors associated with the intensity of anxiety and depression symptoms in health workers of two centres of reference for COVID 19 patient care in Antioquia, Colombia - A latent class analysis.

OBJECTIVE: To classify the staff of two reference institutions for COVID-19 care in Antioquia according to the intensity of anxiety and depression symptoms, and to determine the factors associated with these classes. METHODS: Cross-sectional study in which the GAD-7, PHQ-9, fear of COVID-19, and the Copenhagen Burnout scale were used. Latent class analysis was performed to identify the classes, and the factors associated with these were determined using multinomial logistic regression. RESULTS: 486 people participated. The three-class model had the best fit: class I with low scores on the scales; class II with mild degrees of anxiety and depression, and intermediate levels of fear of COVID-19 and perceived stress; and class III with moderate and severe degrees of anxiety, depression, and perceived stress. The factors associated with belonging to class III were age (OR = 0.94; 95%CI, 0.91-0.96), change of residence to avoid exposing relatives (OR = 4.01; 95%CI, 1.99-8.09), and a history of depressive disorder (OR = 3.10; 95%CI, 1.27-7.56), and anxiety (OR = 5.5; 95%CI, 2.36-12.90). Factors associated with class II were age (OR = 0.97; 95%CI, 0.95-0.99), history of depressive disorder (OR = 3.41; 95%CI, 1.60-7.25), living with someone at risk of death from COVID-19 (OR = 1.86; 95%CI, 1.19-2.91), family member being healthcare staff (OR = 1.58; 95%CI, 1.01-2.47), and change of residence to avoid exposing relatives (OR = 1.99; 95%CI, 1.11-3.59). CONCLUSIONS: Three classes of participants were obtained, two of them with anxiety and depression symptoms. Younger age and a history of mental disorder were factors associated with the two classes of symptomatic patients; other factors may be causes or consequences of the symptoms.

Comparison of the neurocognitive profile of the children of parents with bipolar disorder and controls: A transnational cross-sectional study.

INTRODUCTION: Studies that have compared the cognitive alterations of the children of parents with bipolar disorder (CPBD) versus the children of control parents (CCP), present heterogeneous results due to the studies' methodological differences, the age of the population studied, and the lack of standardisation of the measures used for the different neurocognitive domains. The objective was to compare the neurocognitive profile of CPBD versus CCP to observe if there are differences that could be proposed as possible endophenotypes of BD. RESULTS: A total of 107 individuals (51 CPBD, and 56 CCP) with ages between 6 and 16 (mean, 12.2±2.80) years of age were evaluated. Seventy-four point five percent of the CPBD group had some disorder compared to 67.9% of the CCP group. Tests such as letter-F phonemic verbal fluency, letter-S phonemic verbal fluency, overall F-A-S phonemic verbal fluency, story recall and retrieval, and Wisconsin perseverative errors showed a difference with a small effect size, but with a high degree of uncertainty. CONCLUSIONS: The CPBD did not have differences in their neurocognitive profile in comparison with CCP. Both groups have a high prevalence of psychopathology, which is a factor that could explain the lack of differences in neurocognitive performance.

The Use of Blocking Wires in Fibular Intramedullary Nailing of an Ankle Fracture with Hardware Failure: A Case Report.

A 24-year-old male, with a body mass index (BMI) of 31.7 and a previous open reduction and internal fixation (ORIF) of the left ankle seven years ago, presented to the emergency department with a peri-implant, comminuted fibula fracture with broken hardware and syndesmotic injury. The nature of the revision surgery made proper guidewire placement during fibular nailing difficult. Blocking wires assisted in ensuring proper guidewire placement. The patient was successfully managed with revision ORIF, fibular nailing, and syndesmotic fixation. Blocking wires are a helpful tool for achieving proper fracture alignment and stability during intramedullary nailing procedures and may be considered in fibular nailing situations.

Trochanteric Bolt Failure in a Modular Femoral Revision System.

With the incidence of primary total hip arthroplasty continuing to rise in the United States, the innovation behind improving current total hip arthroplasty systems inevitably grows with it-each new design potentially ushering in new flaws. We report a case of screw failure with the Arcos Modular Femoral Revision System-Trochanteric Bolt and Claw Technique in a 74-year-old male patient. The patient presented to the investigator's clinic for their 20-month follow-up evaluation of their complex right hip revision. Radiographs revealed failure of the screw attaching the claw plate to the stem resulting in dislodgement and relocation of the screw within the intra-articular cavity. The patient elected for nonsurgical management and will continue to be monitored. Consent by the patient involved in this case report was obtained.

JAK2, CALR, and MPL Mutation Profiles in Colombian patients with BCR-ABL Negative Myeloproliferative Neoplasms

Background: Among the chronic myeloproliferative neoplasms (MPNs) not associated with BCR-ABL mutations are polycythemia vera, primary myelofibrosis, and essential thrombocythemia. These diseases are caused by mutations in genes, such as the JAK2, MPL, and CALR genes, which participate in regulating the JAK-STAT signaling pathway. Objective: This study aimed to establish the frequencies of mutations in the JAK2, MPL, and CALR genes in a group of Colombian patients with a negative clinical diagnosis of BCR-ABL chronic myeloproliferative neoplasms. Methods: The JAK2 V617F and MPL W515K mutations and deletions or insertions in exon 9 of the CALR gene were analyzed in 52 Colombian patients with polycythemia vera, primary myelofibrosis, and essential thrombocythemia. Results: The JAK2V617F mutation was carried by 51.9% of the patients, the CALR mutation by 23%, and the MPL mutation by 3.8%; 23% were triple-negative for the mutations analyzed. In these neoplasms, 6 mutation types in CALR were identified, one of which has not been previously reported. Additionally, one patient presented a double mutation in both the CALR and JAK2 genes. Regarding the hematological results for the mutations, significant differences were found in the hemoglobin level, hematocrit level, and platelet count among the three neoplasms. Conclusion: Thus, this study demonstrates the importance of the molecular characterization of the JAK2, CALR and MPL mutations in Colombian patients (the genetic context of which remains unclear in the abovementioned neoplasms) to achieve an accurate diagnosis, a good prognosis, adequate management, and patient survival.

Antecedentes: Entre las neoplasias mieloproliferativas crónicas no asociadas con mutaciones BCR-ABL se encuentran la policitemia vera, la mielofibrosis primaria y la trombocitemia esencial. Estas enfermedades están causadas por mutaciones en genes, como los genes JAK2, MPL y CALR, que participan en la regulación de la vía de señalización JAK-STAT. Objetivo: Establecer las frecuencias de mutaciones en los genes JAK2, MPL y CALR en un grupo de pacientes colombianos con diagnóstico clínico negativo de NMP BCR-ABL. Metodos: Se analizaron las mutaciones y deleciones o inserciones JAK2 V617F y MPL W515K en el exón 9 del gen CALR en 52 pacientes colombianos con policitemia vera, mielofibrosis primaria y trombocitemia esencial. Resultados: La mutación JAK2V617F la portaban el 51.9% de los pacientes, la mutación CALR el 23.0% y la mutación MPL el 3.8%; El 23.0% fueron triple negativos para las mutaciones analizadas. En estas neoplasias se identificaron seis tipos de mutación en CALR, uno de los cuales no ha sido reportado previamente. Además, un paciente presentó una doble mutación tanto en el gen CALR como en el JAK2. En cuanto a los resultados hematológicos para las mutaciones, se encontraron diferencias significativas en el nivel de hemoglobina, el nivel de hematocrito y el recuento de plaquetas entre las tres neoplasias. Conclusiones: Así, este estudio demuestra la importancia de la caracterización molecular de las mutaciones JAK2, CALR y MPL en pacientes colombianos (cuyo contexto genético aún no está claro en las neoplasias antes mencionadas) para lograr un diagnóstico certero, un buen pronóstico, un manejo adecuado y una mejoría del paciente. supervivencia.

Psychopathological Risk in Siblings of Subjects with Attention-Deficit/Hyperactivity Disorder: A cross-Sectional Study

Objective: We aim to determine the prevalence of mental disorders in siblings of children with attention deficit hyperactivity disorder (ADHD), and to determine how psychosocial adversity factors relate to this psychopathology, in a low-middle income country (Colombia). Methods: We evaluated subjects with ADHD diagnosed according to the DSM-5 criteria, one of their parents and one of their siblings (ages 8-19). We used the ADHD rating scale and a set of instruments to assess the presence of mental disorders as well as psychosocial adversity. Results: We evaluated 74 trios formed by the index case with ADHD, one sibling and one of the parents. We found that 24.3% of the participating siblings also met the criteria for ADHD and another 24.3% for other psychiatric disorders. The risk of these siblings having ADHD increased further when one of the parents reported a history of ADHD. We also found that 28.3% of the families faced high levels of psychosocial adversity as per their scores in the Rutter Adversity Index. Conclusions: Siblings of subjects with ADHD showed a significant risk for ADHD and other mental disorders. That risk increased if a parent reported a history of ADHD and also when two or more psychosocial adversity factors were present. This study supports the importance of early detection in efforts to decrease the risk for other siblings.

Objetivo: Nuestro objetivo es determinar la prevalencia de trastornos mentales en hermanos de casos con TDAH y cómo los factores de adversidad psicosocial se relacionan con esta psicopatología en un país de ingresos bajos-medios (Colombia). Métodos: Se evaluó a sujetos con TDAH diagnosticado según los criterios del DSM-5, uno de sus padres y uno de sus hermanos (edades, 8-19 anos). Mediante la escala de calificación del TDAH y un conjunto de otros instrumentos se evaluó la presencia de trastornos mentales y adversidad psicosocial. Resultados: Se evaluó a 74 tríos formados por el caso índice con TDAH, un hermano y uno de los padres. Se halló que un 24,3% de los hermanos participantes también cumplían los criterios de TDAH y otro 24,3%, otros trastornos psiquiátricos. El riesgo de que estos hermanos tuvieran TDAH aumentó aún más cuando uno de los padres informó antecedentes de TDAH. También, que el 28,3% de las familias se enfrentaron a altos niveles de adversidad psicosocial según sus puntuaciones en el Índice de Adversidad de Rutter. Conclusiones: Los hermanos de sujetos con TDAH mostraron un significativo riesgo de TDAH y otros trastornos mentales. Ese riesgo aumenta si uno de los padres reporta antecedentes de TDAH y también cuando se presentan 2 o más factores de adversidad psicosocial. Este estudio respalda la importancia de la detección temprana con el fin de disminuir el riesgo para otros hermanos.

Psychological Status of the Participants in Alzheimer's Prevention Initiative Autosomal Dominant Alzheimer's Disease Colombia.

BACKGROUND: The SARS-CoV2 global pandemic impacted participants in the Alzheimer's Prevention Initiative (API) Autosomal Dominant Alzheimer's Disease (ADAD) clinical trial, who faced three stressors: 1) fear of developing dementia; 2) concerns about missing treatment; and 3) risk of SARS-CoV2 infection. OBJECTIVE: To describe the frequency of psychological disorders among the participants of the API ADAD Colombia clinical study, treated by a holistic mental health team during the COVID-19 pandemic. The extent of use of mental health team services was explored considering different risk factors, and users and non-users of these services were compared. METHODS: Participants had free and optional access to psychology and psychiatry services, outside of the study protocol. Descriptive statistics was used to analyze the frequency of the mental health difficulties. A multivariable logistic regression model has been used to assess associations with using this program. RESULTS: 66 participants were treated by the Mental Health Team from March 1, 2020, to December 31, 2020. Before and after the start of the pandemic, the most common psychological problems were anxiety (36.4% before, 63.6% after) and depression (34.8% before, 37.9% after). 70% of users assisted by psychology and 81.6% of those assisted by psychiatry felt that the services were useful for them. Female sex, depression, and anxiety before the pandemic were positively associated with being assisted by either psychology or psychiatry, while the association with hyperlipidemia was negative. CONCLUSIONS: A holistic mental health program, carried out in the context of a study, could mitigate psychopathology during pandemics such as COVID-19.

Risk of radial head arthroplasty revision is correlated with radial head diameter: a multicenter analysis of 405 cases.

BACKGROUND: Radial head arthroplasty (RHA) is commonly used for the treatment of comminuted radial head fractures. Indications as well as implant types continue to evolve. RHA has had good outcomes with midterm longevity. The literature is limited to small case series with varying implant types, and larger studies are needed to determine the optimal implant type and radial head diameter. METHODS: A retrospective analysis of RHA cases performed by 75 surgeons at 14 medical centers in an integrated health care system between 2006 and 2017 was completed. Patient demographics, comorbidities, implant type and head diameter, and indications for revision were recorded. Patients' in-person clinical visit data were recorded. Patients were also contacted via telephone at a minimum of 2 years to obtain abbreviated Disabilities of the Arm, Shoulder, and Hand questionnaire and Oxford scores. Implant survivorship was also captured within our integrated system. RESULTS: 405 cases met our inclusion criteria. Mean age was 51.5 ± 15.5 years (range 16-88 years) and more common in females (62%). Chart review and telephone follow-up was performed at a mean of 68.9 ± 31.5 months (range 24-146 months). Our study found that revision rate was positively correlated with increasing radial head diameter. A 26-mm head had 7.7 odds of revision compared to a size 18-mm head (95% confidence interval 1.2-150.1). More than 95% of revision cases were performed within the first 36 months of the index procedure. Obese patients had a significantly lower mean postoperative Oxford score (35.5) compared to controls (38.3) (P = .02). There was a significantly higher overall reoperation rate for terrible triad (18.4%) vs. isolated injuries (10.4%) (P = .04). There was no difference between Acumed Anatomic and Evolve radial head implants in overall reoperation, implant revision, postoperative range of motion, or patient-reported outcomes. CONCLUSIONS: Risk of revision is directly correlated with implanted radial head diameter. There were no differences in outcomes and complications between the 2 main implants used. Individuals who did not undergo a revision by 3 years' time tend to retain the implant. Terrible triad injuries had a higher all-cause reoperation rate than isolated radial head fractures, but no difference in the rate of RHA revision. These data reinforce the practice of downsizing radial head implant diameter.