TANK-Binding Kinase 1 Mutation as a Rare Cause of Frontotemporal Dementia in a Mexican Patient: The First Case Report in a Tertiary Referral Hospital in Mexico.

Frontotemporal dementia (FTD) is a heterogeneous condition characterized by changes in behavior, personality, and language resulting from degeneration of the frontal and/or temporal lobes. A wide spectrum of clinical syndromes and an overlap with different motor disorders make this entity challenging for clinicians, both in achieving a correct diagnosis and providing proper treatment. Despite the majority of cases being sporadic, FTD has a hereditary component, and more than 10 disease-causing genes have been identified. We present the case of a Mexican patient with a positive family history of neurocognitive disorders who developed early-onset behavioral symptoms, cognitive alterations, and motor disturbances. After a comprehensive study and multiple assessments by various medical services, a molecular diagnosis was achieved by documenting a loss-of-function mutation in the TANK-binding kinase 1 (TBK1) gene, an extremely rare cause of FTD. Genetic diagnosis is crucial in these situations, as this mutation has been associated with rapid disease progression and the potential development of motor syndromes during its course. Our case underscores the challenges involved in reaching an accurate diagnosis, highlighting the importance of molecular testing. A thorough family history, past medical records, and a detailed description of symptom onset and progression are imperative, as they can significantly influence both treatment approaches and prognosis. Diagnostic errors, combined with their subsequent inappropriate treatment, can further deteriorate patients' quality of life.

Neurologic manifestations in hospitalized patients with COVID-19 in Mexico City.

BACKGROUND: The coronavirus disease 2019 (COVID-19) is a systemic entity that frequently implies neurologic features at presentation and complications during the disease course. We aimed to describe the characteristics and predictors for developing in-hospital neurologic manifestations in a large cohort of hospitalized patients with COVID-19 in Mexico City. METHODS: We analyzed records from consecutive adult patients hospitalized from March 15 to June 30, 2020, with moderate to severe COVID-19 confirmed by reverse transcription real-time polymerase chain reaction (rtRT-PCR) for the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Neurologic syndromes were actively searched by a standardized structured questionnaire and physical examination, confirmed by neuroimaging, neurophysiology of laboratory analyses, as applicable. RESULTS: We studied 1,072 cases (65% men, mean age 53.2±13 years), 71 patients had pre-existing neurologic diseases (diabetic neuropathy: 17, epilepsy: 15, history of ischemic stroke: eight, migraine: six, multiple sclerosis: one, Parkinson disease: one), and 163 (15.2%) developed a new neurologic complication. Headache (41.7%), myalgia (38.5%), dysgeusia (8%), and anosmia (7%) were the most common neurologic symptoms at hospital presentation. Delirium (13.1%), objective limb weakness (5.1%), and delayed recovery of mental status after sedation withdrawal (2.5%), were the most common new neurologic syndromes. Age, headache at presentation, preexisting neurologic disease, invasive mechanical ventilation, and neutrophil/lymphocyte ratio ≥9 were independent predictors of new in-hospital neurologic complications. CONCLUSIONS: Even after excluding initial clinical features and pre-existing comorbidities, new neurologic complications in hospitalized patients with COVID-19 are frequent and can be predicted from clinical information at hospital admission.

Enfermedad carotídea aterosclerosa y enfermedad de sustancia blanca en sujetos sin historia de infarto cerebral o isquemia cerebral transitoria.

INTRODUCTION: Atherosclerotic carotid artery disease (CAD) is a major risk factor for cerebrovascular disease. OBJECTIVE: To analyze the association of major vascular risk factors with atherosclerotic CAD and white matter disease (WMD) in patients without a history of ischemic stroke. METHOD: Risk factors were assessed with carotid examination using Doppler duplex ultrasound. Cases with a history cerebral infarction or transient ischemic attack were not included. Subjects had brain magnetic resonance imaging scans available and those with large-artery ischemic lesions were excluded. Multivariate models were constructed for the prediction of atherosclerotic CAD, significant carotid stenosis, atheroma burden and WMD. RESULTS: One-hundred and forty-five subjects were assessed (60.7% were females, mean age was 73 years). Atherosclerotic CAD was documented in 54.5%, carotid stenosis ≥ 50% in 9.0%, > 6 atheroma plaques in 7.6%, and periventricular or subcortical WMD in 28.3% (20.6% had atherosclerotic CAD and WMD concurrently). Risk factors independently associated with atherosclerotic CAD were age and hypertension; hypertension was associated with ≥ 50% carotid stenosis; age was associated with > 6 atheroma plaques; and age, diabetes and hypertension were associated with WMD. Obesity was not associated with any of the analyzed independent variables. CONCLUSIONS: In asymptomatic subjects without a history of ischemic stroke, age and hypertension were the most important risk factors for macrovascular disease. Diabetes mellitus was associated with microvascular disease. Obesity alone was not a major determinant of CAD or WMD.

INTRODUCCIÓN: La enfermedad carotídea aterosclerosa (ECA) es un factor de riesgo importante para enfermedad vascular cerebral. OBJETIVO: Analizar la asociación entre factores de riesgo vascular mayores con ECA y leucopatía cerebral en pacientes sin historia de ictus isquémico. MÉTODO: Se evaluaron factores de riesgo en sujetos con exploración de carótidas mediante ultrasonografía Doppler dúplex. No se incluyeron casos con historia de infarto cerebral o ataque isquémico transitorio. Los sujetos contaron con resonancia magnética cerebral y se excluyeron aquellos con lesiones isquémicas de grandes vasos. Se construyeron modelos multivariable para la predicción de ECA, estenosis carotídea significativa, carga de ateromas y leucopatía cerebral. RESULTADOS: Se estudiaron 145 sujetos (60.7 % mujeres, edad de 73 años). Se documentó ECA en 54.5 %, estenosis carotídea ≥ 50 % en 9 %, carga de placas de ateroma > 6 en 7.6 % y leucopatía periventricular o subcortical en 28.3 % (20.6 % tenían concurrentemente ECA y leucopatía). Los factores asociados independientemente con ECA fueron edad e hipertensión; con estenosis ≥ 50 %, hipertensión; con cargas de ateromas > 6 placas, edad; con leucopatía, edad, diabetes e hipertensión. La obesidad no se asoció con las variables independientes analizadas. CONCLUSIONES: En los sujetos asintomáticos sin historia de ictus isquémico, la edad y la hipertensión fueron los factores de riesgo más importantes para enfermedad macrovascular. La diabetes mellitus se asoció con enfermedad microvascular. La obesidad por sí sola no fue un determinante mayor de ECA o leucopatía cerebral.

Enfermedad carotídea aterosclerosa y enfermedad de sustancia blanca en sujetos sin historia de infarto cerebral o isquemia cerebral transitoria / Atherosclerotic Carotid Disease and White Matter Disease in Subjects Without a History of Cerebral Infarction or Transient Cerebral Ischemia

Resumen Introducción: La enfermedad carotídea aterosclerosa (ECA) es un factor de riesgo importante para enfermedad vascular cerebral. Objetivo: Analizar la asociación entre factores de riesgo vascular mayores con ECA y leucopatía cerebral en pacientes sin historia de ictus isquémico. Método: Se evaluaron factores de riesgo en sujetos con exploración de carótidas mediante ultrasonografía Doppler dúplex. No se incluyeron casos con historia de infarto cerebral o ataque isquémico transitorio. Los sujetos contaron con resonancia magnética cerebral y se excluyeron aquellos con lesiones isquémicas de grandes vasos. Se construyeron modelos multivariable para la predicción de ECA, estenosis carotídea significativa, carga de ateromas y leucopatía cerebral. Resultados: Se estudiaron 145 sujetos (60.7 % mujeres, edad de 73 años). Se documentó ECA en 54.5 %, estenosis carotídea ≥ 50 % en 9 %, carga de placas de ateroma > 6 en 7.6 % y leucopatía periventricular o subcortical en 28.3 % (20.6 % tenían concurrentemente ECA y leucopatía). Los factores asociados independientemente con ECA fueron edad e hipertensión; con estenosis ≥ 50 %, hipertensión; con cargas de ateromas > 6 placas, edad; con leucopatía, edad, diabetes e hipertensión. La obesidad no se asoció con las variables independientes analizadas. Conclusiones: En los sujetos asintomáticos sin historia de ictus isquémico, la edad y la hipertensión fueron los factores de riesgo más importantes para enfermedad macrovascular. La diabetes mellitus se asoció con enfermedad microvascular. La obesidad por sí sola no fue un determinante mayor de ECA o leucopatía cerebral.

Abstract Introduction: Atherosclerotic carotid artery disease (CAD) is a major risk factor for cerebrovascular disease. Objective: To analyze the association of major vascular risk factors with atherosclerotic CAD and white matter disease (WMD) in patients without a history of ischemic stroke. Method: Risk factors were assessed with carotid examination using Doppler duplex ultrasound. Cases with a history cerebral infarction or transient ischemic attack were not included. Subjects had brain magnetic resonance imaging scans available and those with large-artery ischemic lesions were excluded. Multivariate models were constructed for the prediction of atherosclerotic CAD, significant carotid stenosis, atheroma burden and WMD. Results: One-hundred and forty-five subjects were assessed (60.7% were females, mean age was 73 years). Atherosclerotic CAD was documented in 54.5%, carotid stenosis ≥ 50% in 9.0%, > 6 atheroma plaques in 7.6%, and periventricular or subcortical WMD in 28.3% (20.6% had atherosclerotic CAD and WMD concurrently). Risk factors independently associated with atherosclerotic CAD were age and hypertension; hypertension was associated with ≥ 50% carotid stenosis; age was associated with > 6 atheroma plaques; and age, diabetes and hypertension were associated with WMD. Obesity was not associated with any of the analyzed independent variables. Conclusions: In asymptomatic subjects without a history of ischemic stroke, age and hypertension were the most important risk factors for macrovascular disease. Diabetes mellitus was associated with microvascular disease. Obesity alone was not a major determinant of CAD or WMD.

[Myasthenia gravis in adults of institutions pertaining to the Mexican public health system: an analysis of hospital discharges during 2010]. / Miastenia gravis (MG) en adultos de instituciones pertenecientes al sistema público sanitario mexicano: un análisis de egresos hospitalarios durante el año 2010.

INTRODUCTION: Epidemiological studies on myasthenia gravis (MG) in Mexico is mainly derived from experiences in referral centers. OBJECTIVE: To describe the epidemiological characteristics of hospital discharges during 2010 with the diagnosis of MG in adults hospitalized in the Mexican public health system. METHODS: We consulted the database of hospital discharges during 2010 of the National Health Information System (Ministry of Health, IMSS, IMSS oportunidades, ISSSTE, PEMEX, and the Ministry of Defense). The MG records were identified by the code G70.0 of the International Classification of Diseases 10th revision. RESULTS: During 2010 there were 5,314,132 hospital discharges (4,254,312 adults). Among them, 587 (0.01%) were adults with MG (median age: 47 years, 60% women). Women with MG were significantly younger than men (median age: 37 vs. 54 years, respectively; p < 0.001). The median hospital stay was six days. The case fatality rate was 3.4%, without gender differences. Age was associated with the probability of death. CONCLUSIONS: We confirmed the bimodal age-gender distribution in MG. The in-hospital case fatality rate in Mexico is consistent with recent reports around the world.

[Characterisation of factors associated with carotid stenosis in a population at high risk]. / Caracterizacion de factores asociados con estenosis carotidea en una poblacion de alto riesgo.

INTRODUCTION: Moderate to severe stenosis is the less prevalent among the forms of carotid atherosclerotic disease), but it carries a high risk of ischaemic stroke. AIM: To characterise factors associated with moderate to severe carotid stenosis in a high-risk population. PATIENTS AND METHODS: We performed an analysis on traditional risk factors associated with carotid stenosis ≥50% in 533 patients who received Doppler ultrasound due to a history of stroke (34%) or who had = 2 of the risk factors: age ≥55 years (86%), hypertension (65%), dyslipidemia (52%), obesity (42%), diabetes (40%) or smoking (40%). RESULTS: The prevalence of carotid stenosis ≥50% was 7.1%, symptomatic (associated with stroke in congruent territory) in 5.6%, bilateral in 2.1% and bilateral symptomatic in 1.5%. A 36.8% of patients had moderate to severe load (≥4) of atherosclerotic plaques (25.9% moderate: 4-6 plaques, and 10.9% severe: ≥7 plaques). By multivariate analysis we identified the age ≥75 years, dyslipidemia, and smoking as factors independently associated with carotid stenosis ≥50%, and hypertension and smoking with symptomatic stenosis. The number of risk factors was strongly associated with the prevalence of carotid stenosis. Notably, neither diabetes nor obesity explained the degree of moderate to severe carotid stenosis. CONCLUSIONS: As forms of carotid atherosclerotic disease, moderate to severe stenosis is less frequent than a high burden of atherosclerotic plaques. Advanced age, smoking, dyslipidemia and hypertension are the main traditional risk factors associated with the degree of carotid stenosis.

TITLE: Caracterizacion de factores asociados con estenosis carotidea en una poblacion de alto riesgo.Introduccion. La estenosis moderada a grave es la forma de enfermedad carotidea aterosclerosa menos prevalente, pero que implica un alto riesgo de ictus isquemico. Objetivo. Caracterizar los factores asociados con la estenosis carotidea moderada a grave en una poblacion de alto riesgo. Pacientes y metodos. Realizamos un analisis de los factores de riesgo tradicionales asociados a estenosis carotidea >= 50% en 533 pacientes que recibieron evaluacion mediante ultrasonograma Doppler por historia de ictus (34%), o que contaban con al menos dos de los factores de riesgo: edad >= 55 años (86%), hipertension (65%), dislipidemia (52%), obesidad (42%), diabetes (40%) o tabaquismo (40%). Resultados. La prevalencia de estenosis carotidea >= 50% fue del 7,1%, sintomatica (asociada a ictus en territorio congruente) en el 5,6%, bilateral en el 2,1% y sintomatica bilateral en el 1,5%. Un 36,8% de los pacientes presento carga moderada a grave (>= 4) de placas de ateroma (25,9%, moderada: 4-6 placas; y 10,9%, grave: >= 7 placas). Mediante analisis multivariable se identifico la edad >= 75 años, la dislipidemia y el tabaquismo como factores asociados con estenosis >= 50%, y la hipertension arterial y el tabaquismo con estenosis sintomatica. El numero de factores de riesgo se asocio fuertemente con la prevalencia de estenosis carotidea. Notablemente, ni la diabetes ni la obesidad explicaron el grado de estenosis moderada a grave. Conclusiones. Como formas de enfermedad carotidea aterosclerosa, la frecuencia de estenosis moderada a grave es menor que una carga alta de placas de ateroma. La edad avanzada, el tabaquismo, la dislipidemia y la hipertension son los principales factores tradicionales que se asocian con el grado de estenosis carotidea.

Prevalencia de enfermedad carotidea en un hospital de tercer nivel de atención en el Distrito Federal, México / Prevalence of carotid disease in a tertiary hospital care in Mexico City, Mexico

Introducción: la enfermedad carotídea aterosclerosa (ECA) es causa del 15% de los infartos cerebrales. Su prevalencia podría ser alta en la población latinoamericana, pero esta información es escasa. Objetivos: describir la prevalencia, severidad y factores de riesgo de la ECA en población mexicana que asiste a un hospital de tercer nivel de atención. Materiales y Métodos: se revisaron 545 expedientes clínicos de pacientes a quienes se les realizó ultrasonido de carótidas, en un período de 23 meses. Se analizó la prevalencia y severidad de la ECA, y se compararon los factores de riesgo entre pacientes con y sin esta patología. Resultados: la prevalencia de ECA fue del 54.7% (IC95°/o: 50.5% al 58.8%): leve 48% y moderada-severa 7%. Los factores de riesgo más frecuentes fueron hipertensión arterial (64.8%, ECA moderada-severa: 86.8%), edad mayor o igual a 65 años (64.4%, ECA moderada-severa: 84.2%), hipercolesterolemia (47.5%, ECA moderada-severa: 60.5%) y diabetes mellitus (40%, ECA moderada-severa: 44.7%). Un 29% tenían historia de infarto cerebral. La mayoría de los pacientes recibieron estatinas o fibratos (68.3%, ECA moderada-severa: 86.8%), antiagregantes (62%, ECA moderada a severa: 86.8%) e inhibidores de la enzima convertidora de angiotensina (42.8%, ECA moderada-severa: 71.1%). De los 38 pacientes con ECA moderada-severa, 13 (34.2%) se sometieron a revascularización carotídea (12 endarterectomía y 1 endoprótesis más angioplastia). Conclusiones: la prevalencia de ECA en esta población mexicana es similar a la informada en otros países. La mayoría de los pacientes son manejados conservadoramente. Debe hacerse énfasis en el control de factores de riesgo cardiovascular asociados a la ECA.

Introduction: carotid atherosclerotic disease (CAD) is cause of about 15% of acute strokes. Its prevalence could be high in the Latin American population, but this information, in general, is largely unknown. Objetive: to describe the prevalence, severity and risk factors of CAD in a Mexican population from a third-level referral center. Materials and Methods: a total of 545 clinical records of patients who received carotid ultrasound in a period of 23 months were reviewed. We analyzed the prevalence and severity of CAD, and compared risk factors between patients with and without this condition. Results: the general prevalence of CAD was 54.7% (95% confidence interval: 50.5% to 58.8%): mild 48% and moderate-severe 7%. The most frequent risk factors were hypertension (64.8%, moderate-severe CAD: 86.8%), hypercholesterolemia (47.5%, moderate-severe CAD: 60.5%) and diabetes mellitus (40%, moderate-severe CAD: 44.7%). Twenty nine percent of patients had history of cerebral infarction. Most patients received statins and/or fibrates (68.3%, moderate-severe CAD: 86.8%), antiplatelets (62%, moderate-severe CAD: 86.8%) and angiotensin-converting enzyme inhibitors (42.8%, moderate-severe CAD: 71.1%). Among the 38 patients with moderate-severe CAD, 13 (34.2%) received carotid revascularization (12 endarterectomy and 1 angioplasty plus stenting). Conclusion: the prevalence of CAD in this Mexican population is similar to that reported in other countries. Most patients are treated conservatively. Emphasis should be made on optimal control of cardiovascular risk factors associated with CAD.