The first genome-wide association study in the Argentinian and Chilean populations identifies shared genetics with Europeans in Alzheimer's disease.

INTRODUCTION: Genome-wide association studies (GWAS) are fundamental for identifying loci associated with diseases. However, they require replication in other ethnicities. METHODS: We performed GWAS on sporadic Alzheimer's disease (AD) including 539 patients and 854 controls from Argentina and Chile. We combined our results with those from the European Alzheimer and Dementia Biobank (EADB) in a meta-analysis and tested their genetic risk score (GRS) performance in this admixed population. RESULTS: We detected apolipoprotein E ε4 as the single genome-wide significant signal (odds ratio  = 2.93 [2.37-3.63], P = 2.6 × 10-23 ). The meta-analysis with EADB summary statistics revealed four new loci reaching GWAS significance. Functional annotations of these loci implicated endosome/lysosomal function. Finally, the AD-GRS presented a similar performance in these populations, despite the score diminished when the Native American ancestry rose. DISCUSSION: We report the first GWAS on AD in a population from South America. It shows shared genetics modulating AD risk between the European and these admixed populations. HIGHLIGHTS: This is the first genome-wide association study on Alzheimer's disease (AD) in a population sample from Argentina and Chile. Trans-ethnic meta-analysis reveals four new loci involving lysosomal function in AD. This is the first independent replication for TREM2L, IGH-gene-cluster, and ADAM17 loci. A genetic risk score (GRS) developed in Europeans performed well in this population. The higher the Native American ancestry the lower the GRS values.

[Systematic revision of the neural bases of dissociative amnesia]. / Las bases neurales de la Amnesia Disociativa (AD): una revisión sistemática de la bibliografía.

INTRODUCTION: Dissociative amnesia (DA) is a retrograde amnesia characterized by an alteration in episodic memory. AIM: Establish the neural bases which underlie the development of dissociative amnesia. METHODS: Systematic and evaluative bibliographic review of qualitative type. RESULTS: The bibliography found suggested functional inhibition in the hippocampus, amygdala, temporal lobes, prefrontal cortex and thalamus. Also, hypoglycemia was observed in right cerebral cortex, at the fronto-temporal junction. An inhibition in the potential action P300 was also stated. CONCLUSIONS: There is enough evidence to say that dissociative amnesia is an objectifiable biologically based pathology. There is a need to review the current conceptualization of this syndrome and to establish new criteria that would allow us to distinguish DA from organic amnesias.

The Conservative Management of an Uncommon Case of Postpartum HELLP (Hemolysis, Elevated Liver Enzymes, and Low Platelet Count) Syndrome Complicated by Liver Hematoma Causing Gastric Outlet Obstruction: A Case Report.

Hypertensive disorders of pregnancy, particularly preeclampsia, are significant contributors to maternal and fetal mortality worldwide. HELLP (hemolysis, elevated liver enzymes, and low platelet count) syndrome constitutes a severe manifestation of preeclampsia. Subcapsular liver hematoma (SLH) is a rare complication of HELLP syndrome, resulting from blood accumulation between the liver parenchyma and the Glisson's capsule. We present a unique case of a pregnant patient with HELLP syndrome complicated by SLH, leading to gastric outlet obstruction (GOO). The patient's medical history, clinical presentation, diagnostic evaluation, and management are discussed. The patient, with a history of pregnancy-induced hypertension, presented with HELLP syndrome at 34 weeks of gestation. Elevated blood pressure, liver enzymes, and low platelet count were observed. Postpartum, the patient developed SLH causing GOO. Conservative management, including intravenous fluids, pain control, and a nasogastric tube, was employed. Imaging confirmed SLH and GOO. Multidisciplinary collaboration guided the treatment approach, emphasizing close monitoring, nonoperative strategies, and dietary adjustments. The patient's condition improved, and she was discharged on postpartum day 20. This case report underscores the challenges of managing HELLP syndrome complications, especially SLH-induced GOO. Early diagnosis, appropriate medical interventions, and interdisciplinary coordination are pivotal in ensuring positive outcomes. Conservative management can be effective in stable patients, but timely recognition and monitoring remain crucial for averting potential complications. This case contributes to the limited literature on managing such complex scenarios and highlights the importance of tailored strategies in multifaceted medical conditions.

Wild coastline birds as reservoirs of broad-spectrum-ß-lactamase-producing Enterobacteriaceae in Miami Beach, Florida.

A high rate of broad-spectrum-ß-lactamase-producing Escherichia coli isolates was identified from seagull and pelican feces collected in the Miami Beach, Florida, area. The most commonly identified resistance determinants were CMY-2 and CTX-M-15. Those wild birds might be therefore considered vehicles for wide dissemination of multidrug-resistant Enterobacteriaceae in the United States.

Atypical Neuroleptic Malignant Syndrome in a COVID-19 Intensive Care Unit.

Neuroleptic malignant syndrome (NMS) has been defined as a life-threatening neurologic emergency related to the use of antipsychotic medications. It is most often seen with high-potency (first-generation) antipsychotic medications and may occur after a single dose. There have been conflicting reports in the literature of an atypical NMS (ANMS) presentation, associated with lower-potency agents (second generation) antipsychotic medications. NMS is usually diagnosed with a tetrad of clinical symptoms although none of the tetrads is needed for diagnosis. We report a case of a patient admitted for severe acute syndrome coronavirus 2 (SARS-CoV2) pneumonia who developed probable ANMS. SARS-CoV2 also referred to as coronavirus disease 2019 (COVID-19) added another dimension of complication to patient care as we have, at this time, an incomplete understanding of the pathogenesis. We feel critical care clinicians should maintain broad differentials to clinical findings, during the use of multiple medications and not simply attribute the various presentations to COVID-19.

Tracking the impact of multiple sclerosis on employment status: the development of a questionnaire.

BACKGROUND: Multiple sclerosis (MS) has a negative effect on employment status. OBJECTIVE: To present the preliminary results of a special questionnaire designed to collect employment information on patients with MS. METHODS: The questionnaire on the impact of MS on employment status was completed by 63 patients. Fatigue, cognition, and depression were also evaluated, and 33 healthy participants were recruited as a control group. RESULTS: Regarding the patients' employment status, we found rates of 31.7% of full-time employment, 28.6% of part-time employment, 7.9% of unemployment due to MS, 4.8% of housewives, 1.6% retirement due to age, 15.9% of retirement due to disability, 7.9% of medical leave due to MS, and 1.6% of medical leave for other reasons. The rate of unemployment among the patients was significantly higher compared with that of the control group. Out of 38 working patients, 31% had been absent from work for the previous 3 months due to MS, and 50% had to make changes in their work to remain employed. Out of the 19 unemployed patients, 78% said that walking difficulties were the cause of unemployment, while 52% thought cognitive impairment was the cause. CONCLUSIONS: The questionnaire provides a record of the employment status of patients with MS and describes the impact on work from their point of view.

ANTECEDENTES: A esclerose múltipla (EM) tem um efeito negativo na situação laboral. OBJETIVO: Apresentar os resultados preliminares de um questionário elaborado para coletar informações sobre a situação laboral de pacientes com EM. MéTODOS: O questionário sobre o impacto da EM na situação laboral foi preenchido por 63 pacientes. Fadiga, cognição e depressão também foram avaliadas, e 33 pacientes saudáveis foram incluídos como grupo controle. RESULTADOS: Quanto à situação laboral dos pacientes, foram encontradas taxas de 31,7% de emprego em tempo integral, 28,6% de emprego em meio período, 7,9% de desemprego por EM, 4,8% de donas de casa, 1,6% aposentadoria por idade, 15,9% de aposentadoria por invalidez, 7,9% por licença médica por EM, e 1,6% de licença médica por outros motivos. A taxa de desemprego entre os pacientes foi significativamente mais alta em comparação com a do grupo controle. Dos 38 pacientes empregados, 31% tiveram que se afastar do trabalho nos 3 meses anteriores por causa da EM, e 50% tiveram que fazer mudanças em seu trabalho para permanecer empregado. Dos 19 pacientes desempregados, 78% mencionaram que as dificuldades de locomoção foram a causa do desemprego, enquanto 52% reportaram que a deterioração cognitiva foi a causa. CONCLUSõES: Este questionário fornece um registro da situação laboral dos pacientes com EM e descreve o seu impacto no emprego do ponto de vista deles.

Adaptación argentina del Cuestionario de Reserva Cognitiva: CRC-a / Argentinian adaptation of the Cognitive Reserve Questionnaire: CRQ-a

Resumen La reserva cognitiva (RC) se refiere al nivel de adaptabilidad de la cognición frente a cambios cerebrales. Varios estudios la han considerado un factor de protección de la enfermedad de Alzheimer (EA). En la región argentina no se cuenta con un instrumento validado que permita medir este constructo. El objetivo del presente trabajo es adaptar el Cuestionario de Reserva Cognitiva (CRC) a la población argentina, establecer puntajes de corte para determinar desde niveles bajos a superiores de RC y analizar qué variables predicen el puntaje total de la reserva. Las modificaciones introducidas a la adaptación fueron evaluadas a través de un proceso de juicio de expertos. Un total de 177 sujetos sanos completaron el Cuestionario de Reserva Cognitiva en su adaptación argentina (CRC-a). Mediante la medida de cuartiles, se establecieron puntajes de corte para determinar niveles bajos, medios, altos y superiores de la reserva. Se realizó una regresión lineal para evaluar si el sexo, la edad y la escolaridad predicen el nivel de RC. En la adaptación argentina del CRC se modificaron 3 de las 8 dimensiones totales y 16 de los 33 ítems totales con respecto al cuestionario original. La media del puntaje total obtenido por la muestra a partir del cuestionario fue de 15.06 con DS = 3.42. Puntajes menores a 13 reflejaron niveles bajos de RC, puntajes entre 13 y 16, niveles medios, puntajes entre 16 y 20, niveles altos, y puntajes superiores a 20, niveles superiores. La escolaridad resultó ser la única variable de predicción del nivel de RC. Si bien se encontraron diferencias entre grupos respecto a la variable sexo, esta no demostró ser predictiva. El CRC-a es el primer instrumento desarrollado en esta región para medir el nivel de RC. Contar con su validación abriría futuras líneas de investigaciones sobre posibles intervenciones para la prevención de enfermedades, tales como la EA.

Abstract Cognitive reserve (CR) refers to the level of adaptability of cognition after brain changes. It is based on processes that allow the activation of new synaptic connections after neurodegeneration, which permits to better withstand the consequences. This reserve is constituted by the interaction of innate individual characteristics (intrauterine or genetically determined) and the exposure to different life experiences. It begins its development in early stages of life and continues its transformation up to advances ages. The sociodemographic variables reported as the main ones to build the reserve are education, leisure activities, lifestyle, socioeconomic level and intelligence. Several studies have considered it as a protective factor for Alzheimer's Disease (AD). Subjects with high levels of CR have lower prevalence and incidence of AD in comparison to those with low levels of reserve. CR would lead to a late onset of symptoms, despite not having any effect on the underlying pathophysiological process of the disease. The reserve would not prevent AD from developing, but it would compensate the symptoms and, therefore, delay their onset. In some cases, there is such compensation that the symptoms do not manifest. There is no validated instrument available for the Argentinian region that allows to measure this construct. The aim of this study is to adapt the Cognitive Reserve Questionnaire to the Argentinian population, to establish cut-off scores to distinguish between low, medium, high and superior levels of CR and analyze which variables could predict the total reserve score. The modifications introduced in the adaptation were evaluated through an expert judgment process. A total of 177 healthy subjects completed the Cognitive Reserve Questionnaire in its Argentinian adaptation (CRQ-a). Through the measure of quartiles, cut-off scores were established to determine low, medium, high and superior levels of the reserve. A lineal regression was made to evaluate if age, education, and sex might predict the level of CR. Three of the eight total dimensions and 16 of the 33 total items that make up the original questionnaire were modified. The mean of the total score obtained by the sample from the questionnaire was 15.06 with SD = 3.42. Scores under 13 reflected low CR levels, scores between 13 and 16 reflected medium levels, scores between 16 and 20 reflected high levels, and scores above 20 reflected superior levels. Education turned out to be the only predictor variable for the level of CR. Although differences were found between groups of different sex, this variable turned out to be not predictive. The CRQ-a is the first instrument for the Argentinian population to measure the level of the reserve. It allows to quickly explore different dimensions, considered as the most relevant for its formation. These are: formal education, courses, parents' formal education, employment, musical training, languages, reading activity and intellectual games. In patients with AD, is particularly important to have a measure for CR to prepare interventions for those subjects whose reserve levels are perceived as low, aiming to delay and, when possible, prevent the clinical manifestation of the disease. Its validation would open future lines of research on possible interventions for the prevention of diseases such as AD.

Emergent Surgical Embolectomy for Massive Pulmonary Embolism Causing Intraoperative Cardiac Arrest.

BACKGROUND: A massive pulmonary embolism (PE) is associated with high mortality once cardiac arrest occurs. Surgical embolectomy is indicated in patients who have massive PE. CASE REPORT: A 62-year-old male emergently underwent surgical embolectomy after sustaining an intraoperative cardiac arrest caused by a massive PE during an open reduction with internal fixation of a closed comminuted midshaft tibia fracture. Postoperatively, the patient developed pulmonary hypertension and acute renal failure. He was treated with aerosolized epoprostenol for right ventricular strain secondary to pulmonary hypertension. He survived the hospital course and was discharged without any other major complications. CONCLUSION: Surgical embolectomy is a viable option for massive PE, and aerosolized epoprostenol can be used as adjuvant treatment for right ventricular strain secondary to acute pulmonary hypertension.

Two episodes of cardiac tamponade in the same patient from removing pacing wires and a pericardial drain: A case report.

A patient presented for an elective transcatheter aortic valve replacement with temporary transvenous pacing (TVP) wires placement per protocol. On postoperative day 1, the patient remained stable, so the wires were subsequently removed, after which the patient acutely decompensated, with transthoracic echocardiography revealing pericardial effusion. Emergent pericardiocentesis was performed, and a pericardial drain was placed. Three days later, the drain was removed; again, the patient acutely decompensated, requiring another emergent pericardiocentesis. Despite the relatively benign nature of TVP wires and pericardial drains, the possibility of cardiac tamponade should be kept in mind as a potential complication when they are being removed.

Tracking the impact of multiple sclerosis on employment status: the development of a questionnaire / Avaliação do impacto da esclerose múltipla na situação laboral: desenvolvimento de um questionário

Abstract Background Multiple sclerosis (MS) has a negative effect on employment status. Objective To present the preliminary results of a special questionnaire designed to collect employment information on patients with MS. Methods The questionnaire on the impact of MS on employment status was completed by 63 patients. Fatigue, cognition, and depression were also evaluated, and 33 healthy participants were recruited as a control group. Results Regarding the patients' employment status, we found rates of 31.7% of fulltime employment, 28.6% of part-time employment, 7.9% of unemployment due to MS, 4.8% of housewives, 1.6% retirement due to age, 15.9% of retirement due to disability, 7.9% of medical leave due to MS, and 1.6% of medical leave for other reasons. The rate of unemployment among the patients was significantly higher compared with that of the control group. Out of 38 working patients, 31% had been absent from work for the previous 3 months due to MS, and 50% had to make changes in their work to remain employed. Out of the 19 unemployed patients, 78% said that walking difficulties were the cause of unemployment, while 52% thought cognitive impairment was the cause. Conclusions The questionnaire provides a record of the employment status of patients with MS and describes the impact on work from their point of view.

Resumo Antecedentes A esclerose múltipla (EM) tem um efeito negativo na situação laboral. Objetivo Apresentar os resultados preliminares de um questionário elaborado para coletar informações sobre a situação laboral de pacientes com EM. Métodos O questionário sobre o impacto da EM na situação laboral foi preenchido por 63 pacientes. Fadiga, cognição e depressão também foram avaliadas, e 33 pacientes saudáveis foram incluídos como grupo controle. Resultados Quanto à situação laboral dos pacientes, foram encontradas taxas de 31,7% de emprego em tempo integral, 28,6% de emprego em meio período, 7,9% de desemprego por EM, 4,8% de donas de casa, 1,6% aposentadoria por idade, 15,9% de aposentadoria por invalidez, 7,9% por licença médica por EM, e 1,6% de licença médica por outros motivos. A taxa de desemprego entre os pacientes foi significativamente mais alta em comparação coma do grupo controle. Dos 38 pacientes empregados, 31% tiveram que se afastar do trabalho nos 3 meses anteriores por causa da EM, e 50% tiveram que fazer mudanças em seu trabalho para permanecer empregado. Dos 19 pacientes desempregados, 78% mencionaram que as dificuldades de locomoção foram a causa do desemprego, enquanto 52% reportaram que a deterioração cognitiva foi a causa. Conclusões Este questionário fornece um registro da situação laboral dos pacientes com EM e descreve o seu impacto no emprego do ponto de vista deles.

Reserva Cognitiva: revisión de su conceptualización y relación con la Enfermedad de Alzheimer / Cognitive Reserve: a revision of its conceptualization and its relation with Alzheimer´s Disease

Introducción: La reserva cognitiva permite la activación de conexiones sinápticas adicionales y nuevas redes neurales frente a demandas del ambiente. Objetivo: Delimitar qué variables contribuyen a la formación de la reserva cognitiva y establecer su expresión en el desarrollo de la Enfermedad de Alzheimer. Metodología: Revisión bibliográfica sistemática y evaluativa de tipo cualitativa. Resultados: La educación, actividades de ocio, estilo de vida, estatus socioeconómico e inteligencia son las principales variables que aportan a la formación de la reserva cognitiva. Sujetos con alta reserva tienen menor prevalencia e incidencia de demencia. Aquellos que lleguen a desarrollar la enfermedad lo harán a una edad más tardía y con mayor severidad de síntomas. Conclusión: Las variables que contribuyen a la formación de la reserva cognitiva son, principalmente, variables socio-ambientales. La reserva se considera factor de protección frente a la enfermedad. Además, atrasaría la aparición de la demencia, logrando, en algunos casos, que nunca se llegue a desarrollar la enfermedad(AU)

Introduction: Cognitive reserve allows the activation of additional synaptic connections and new neural networks against environmental demands. Objective: Establish the variables that contribute to the formation of cognitive reserve and its expression in relation with Alzheimer´s Disease. Method: Systematic and evaluative review of qualitative type. Results: Education, leisure activities, lifestyle, socioeconomic status and intelligence are the main variables which contribute to the formation of cognitive reserve. Subjects with high reserve have lower prevalence and incidence of dementia. Those who develop Alzheimer´s Disease will do so at a later age and with more severe symptoms. Conclusions: The variables which contribute to the formation of cognitive reserve are, mainly, socio-environmental variables. The reserve is considered a protective factor against disease. It delays the onset of dementia avoiding, in some cases, the development of the pathology(AU)

Reconocimiento de emociones básicas y sus principales confusores en la demencia tipo Alzheimer / Recognition of basic emotions and their main confusers in Alzheimer-type dementia

Introducción: En la demencia tipo Alzheimer se suele observar alteración en el reconocimiento de las emociones básicas. Aunque existe cierto consenso en que las emociones básicas son seis, trabajos más recientes concluyen que puede haber una combinación entre miedo/sorpresa y asco/enojo. Este patrón no está investigado en la demencia tipo Alzheimer. Objetivos: Evaluar si los principales confusores son significativos para determinar la cantidad de emociones básicas y estudiar cuáles son los principales confusores entre emociones que se manifiestan en los pacientes con demencia tipo Alzheimer. Pacientes y métodos: Se evaluó a 28 pacientes con la batería de reconocimiento facial de emociones básicas. Resultados: Los porcentajes más elevados de elección para cada emoción, que proceden de las respuestas correctas, corresponden a los principales factores de confusión (miedo × sorpresa, sorpresa × miedo y asco × enojo). Se encontraron diferencias significativas entre miedo correcto/sorpresa × miedo, sorpresa correcta/miedo × sorpresa, enojo correcto/asco × enojo y asco correcto/enojo × asco. Conclusiones: Estos resultados estarían apoyando la teoría clásica planteada sobre la existencia de seis emociones básicas. Respecto a los confusores emocionales, nuestros resultados coinciden parcialmente con estudios que encontraron que los principales errores se presentan entre enojo/asco y sorpresa/miedo. Como excepción, en nuestra muestra encontramos que cuando la respuesta correcta es enojo, la respuesta más común de los pacientes es miedo

Introduction: An alteration in the recognition of basic emotions is usually observed in Alzheimer's type dementia. Although there is some consensus that basic emotions are six, more recent studies conclude that there may be a combination between fear/ surprise and disgust/anger. This pattern has not yet been investigated in the Alzheimer's type dementia. Aims: To evaluate if the main confusers are significant as to determine the amount of basic emotions, and to study which are the main confusers, between emotions, that are manifested in patients with Alzheimer's type dementia. Patients and methods: Twenty-eight patients were evaluated with the Battery of Facial Recognition of Basic Emotions. Results: The highest percentages of choice for each emotion, proceeding those of correct answers, correspond to the main confusers (fear × surprise, surprise × fear, and disgust × anger). Significant differences were found between fear correct/surprise × fear, surprise correct/fear × surprise, anger correct/disgust × anger, and disgust correct/anger × disgust. Conclusions: These results support the classical theory raised on the existence of six basic emotions. As regard as emotional confusers, our results coincide partially with studies which found that the main errors are between anger/disgust and surprise/fear. As an exception, we found in our sample that when the correct answer is anger, the most common response by patients is fear

Diagnosis of gestational, congenital, and placental malaria in Colombia: comparison of the efficacy of microscopy, nested polymerase chain reaction, and histopathology.

The technical capability of different methods to diagnose Plasmodium in maternal peripheral blood, placenta, and umbilical cord blood has not been assessed in Colombia and seldom explored in other malaria-endemic regions. We designed a study to compare the technical and the operational-economical performances of light microscopy (LM), nested polymerase chain reaction (nPCR), and histopathology (HP). In maternal blood, LM had 41% sensitivity and 100% specificity and in placental blood, 35% and 100%, respectively, compared with nPCR. In placental tissue, LM had 33% sensitivity and 95% specificity; and nPCR 47% and 77%, respectively; compared with HP. Light microscopy had the best operational-economical qualification. We concluded that nPCR and HP performed better compared with LM, but field implementation of these two techniques remains a problem. Therefore, LM is recommended as the gold standard for diagnosis of gestational malaria and placental blood infection in the field.

Successful eradication of a monoclonal strain of Klebsiella pneumoniae during a K. pneumoniae carbapenemase-producing K. pneumoniae outbreak in a surgical intensive care unit in Miami, Florida.

We describe the investigation and control of a Klebsiella pneumoniae carbapenemase-producing K. pneumoniae outbreak in a 20-bed surgical intensive care unit during the period from January 1, 2009 through January 1, 2010. Nine patients were either colonized or infected with a monoclonal strain of K. pneumoniae. The implementation of a bundle of interventions on July 2009 successfully controlled the further horizontal spread of this organism.