RESUMEN
Introduction: Frailty is a geriatric syndrome frequently associated with executive dysfunction and white matter hyperintensities (WMH). But the relation between executive dysfunction and brain changes is poorly understood in frail subjects. Our hypothesis is that frontal-WMH mediates the association between frailty and executive dysfunction. Methods: A convenience sample of 113 subjects older than 65 years without dementia was studied with neuropsychological test, a structured clinical interview, physical examination and brain MRI. They were classified as robust or pre-frail and frail using the frailty phenotype score (0-5). The frontal WMH (F-WMH) were manually graduated (0-6) using the "Age-Related White Matter Changes score" from FLAIR sequences at a 3 Tesla brain MRI. A mediation analysis was done for testing whether F-WMH could act as a link factor between frailty phenotype score and executive dysfunction. Results: The group's mean age was 74 ± 6 years, subjects with higher frailty score had more depressive symptoms and worse performance in executive function tests. A regression analysis that explained 52% of the variability in executive functions, revealed a significant direct effect of frailty score (Standardized ßcoeff [95% CI] -0.201, [-0.319, -0.049], and F-WMH (-0.152[-0.269, -0.009]) on executive functions, while the F-WMH showed a small partial mediation effect between frailty and executive functions (-0.0395, [-0.09, -0.004]). Discussion: Frontal matter hyperintensities had a small mediation effect on the association between frailty and executive dysfunction, suggesting that other neuropathological and neurofunctional changes might also be associated with executive dysfunction in frail subjects.
RESUMEN
Neurological manifestations can occur in up to 67% of patients with primary Sjögren's Syndrome, also known as Neuro-Sjogren's syndrome (NSS), and a 5% can present central nervous system involvement, with severe and possibly lethal consequences. We present the radiological follow-up of a patient with NSS who consulted for limb weakness and visual loss, and fourteen years later developed sicca symptoms. She was diagnosed with a saliva gland biopsy, and started treatment with steroids, cyclophosphamide, and then rituximab, achieving a favourable clinical response and stabilization of lesions. We discuss key aspects regarding the clinical presentation, diagnosis, imaging, and treatment of this elusive disease.
Asunto(s)
Enfermedades del Sistema Nervioso Central , Síndrome de Sjögren , Femenino , Humanos , Síndrome de Sjögren/complicaciones , Síndrome de Sjögren/diagnóstico por imagen , Enfermedades del Sistema Nervioso Central/diagnóstico por imagen , Enfermedades del Sistema Nervioso Central/tratamiento farmacológico , Rituximab/uso terapéutico , Ciclofosfamida/uso terapéutico , Sistema Nervioso Central/diagnóstico por imagenRESUMEN
BACKGROUND: In relapsing-remitting multiple sclerosis (RRMS), no evidence of disease activity-3 (NEDA-3) is defined as the absence of: (1) relapses; (2) disability progression; (3) MRI activity (new/enlarged T2 lesions and/or gadolinium-enhanced T1 lesions). NEDA-4 status is defined as meeting all NEDA-3 criteria plus having an annualized percentage brain volume change (a-PBVC) >-0.4%. In individual patients, brain volume assessment is confounded with normal aging, methodological limitations and fluid-shift related fluctuations in brain volume. Cognitive impairment has been proposed as another component that should be integrated into therapeutic algorithms for RRMS. We aim to determine the proportion of patients failing to meet NEDA-4 criteria and to appraise whether the Symbol Digit Modalities Test (SDMT) is capable of replacing a-PBVC as one of the components of NEDA-4. We hypothesize that NEDA-4 has the potential to capture the impact of DMT therapies in RRMS. METHODS: Forty-five patients were prospectively followed 1 and 2 years after their baseline assessment at the University of Chile Hospital. SIENA software was used to assess a-PBVC. RESULTS: At baseline, the patients had a mean age of 33.0 years (range 18-57), disease duration of 1.9 years (0.4-4), Expanded Disability Status Scale score of 1.3 (0-4), and 67% were female. The majority had RRMS (91% while 9% had clinically isolated syndrome (CIS)). Seventy-three percent were on the so-called first line DMTs such as interferons (53%), glatiramer acetate (13%), teriflunomide (9%), and 18% were on fingolimod. There was a serial decline in the proportion of NEDA: after 1 and 2 years of follow-up 60% and 47% met NEDA-3 status, and 38% and 27% met NEDA-4, respectively. At the last follow-up 21% remained on interferons, 47% were now on fingolimod, 4% on alemtuzumab and 2% on natalizumab. At year 1 and year 2, with the replacement of a-PBVC by SDMT, 53% and 40% of patients achieved a putative NEDA-4 status, respectively. CONCLUSION: Brain volumetric MRI has yet to be translated into clinical practice and SDMT may qualify as the fourth component of NEDA-4 definition. NEDA-4 has the potential to capture the impact of DMT therapies in RRMS earlier in the disease course of RRMS.
Asunto(s)
Encéfalo/patología , Disfunción Cognitiva/diagnóstico , Progresión de la Enfermedad , Factores Inmunológicos/administración & dosificación , Esclerosis Múltiple Recurrente-Remitente/diagnóstico , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Pruebas Neuropsicológicas , Evaluación de Resultado en la Atención de Salud , Adolescente , Adulto , Atrofia/patología , Encéfalo/diagnóstico por imagen , Chile , Disfunción Cognitiva/etiología , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Esclerosis Múltiple Recurrente-Remitente/complicaciones , Adulto JovenRESUMEN
Background: In relapsing-remitting multiple sclerosis, no evidence of disease activity-3 (NEDA-3) is defined as no relapses, no disability progression and no MRI activity. NEDA-4 status is defined as meeting all NEDA-3 criteria plus having an annualized brain volume loss (a-BVL) of ≤0.4%. Prospective real-world studies presenting data on NEDA-4 are scarce. Objective: To determine the proportion of patients failing to meet one or more NEDA-4 criteria and the contribution of each component to this failure. Methods: Forty-eight patients were followed for 12 months. Structural image evaluation, using normalization, of atrophy was used to assess a-BVL. Results: The patients had a mean age of 33.0 years (range 18-57), disease duration of 1.7 years (0.4-4) and Expanded Disability Status Scale score of 1.3 (0-4); 71% were women. All patients were on disease-modifying therapies. During follow-up, 21% of the patients had at least one relapse, 21% had disability progression, 8% had new T2 lesions, and 10% had gadolinium-enhanced lesions. Fifty-eight percent (28/48) achieved NEDA-3 status. a-BVL of >0.4% was observed in 52% (25/48). Only 29% (14/48) achieved NEDA-4 status. Conclusion: a-BVL is a good marker to detect subclinical disease activity. a-BVL is parameter to continue investigating for guiding clinical practice in relapsing-remitting multiple sclerosis.
RESUMEN
INTRODUCTION: In El Salvador, chronic kidney disease is a serious and growing public health problem. Chronic renal failure was the first cause of hospital deaths in men and the fifth in women in 2011. OBJECTIVE: Determine prevalence of CKD, CKD risk factors (traditional and nontraditional) and renal damage markers in the adult population of specific rural areas in El Salvador; measure population distribution of renal function; and identify associated risk factors in CKD patients detected. METHODS: A cross-sectional analytical epidemiological study was conducted based on active screening for chronic kidney disease and risk factors in persons aged ≥18 years during 2009-2011. Epidemiological and clinical data were gathered through personal history, as well as urinalysis for renal and vascular damage markers, determinations of serum creatinine and glucose, and estimation of glomerular filtration rates. Chronic kidney disease cases were confirmed at three months. Multiple logistical regression was used for statistical analysis. RESULTS: Prevalence of chronic kidney disease was 18% (23.9% for men and 13.9% for women) in 2388 persons: 976 men and 1412 women from 1306 families studied. Chronic kidney disease with neither diabetes nor hypertension nor proteinuria ≥1 g/L (51.9%) predominated. Prevalence of chronic renal failure was 11% (17.1% in men and 6.8% in women). Prevalence of renal damage markers was 12.5% (higher in men): microalbuminuria, 6.9%; proteinuria (0.3 g/L), 1.7%; proteinuria (1g/L), 0.6%; proteinuria (2 g/L), 0.4 %; and hematuria, 1.5%. Prevalence of chronic kidney disease risk factors was: diabetes mellitus, 9%; hypertension, 20.9%; family history of chronic kidney disease, 16.5%; family history of diabetes mellitus, 18.5%; family history of hypertension, 30.6%; obesity, 21%; central obesity, 24.9%; NSAID use, 84.2%; smoking, 9.9%; alcohol use, 15%; agricultural occupation, 31.2%; and contact with agrochemicals, 46.7%. Chronic kidney disease was significantly associated with male sex, older age, hypertension, agricultural occupation, family history of chronic kidney disease and contact with the agrochemical methyl parathion. CONCLUSIONS: The results of this study support suggestions from other research that we are facing a new form of kidney disease that could be called agricultural nephropathy.
Asunto(s)
Agricultura , Agroquímicos/envenenamiento , Fallo Renal Crónico/epidemiología , Adolescente , Adulto , Distribución por Edad , Consumo de Bebidas Alcohólicas/epidemiología , Biomarcadores/sangre , Comorbilidad , Estudios Transversales , Diabetes Mellitus/epidemiología , El Salvador/epidemiología , Exposición a Riesgos Ambientales/efectos adversos , Femenino , Humanos , Hipertensión/epidemiología , Fallo Renal Crónico/diagnóstico , Fallo Renal Crónico/etiología , Modelos Logísticos , Masculino , Persona de Mediana Edad , Obesidad/epidemiología , Plantas Medicinales/efectos adversos , Prevalencia , Factores de Riesgo , Distribución por Sexo , Tabaquismo/epidemiología , Adulto JovenRESUMEN
INTRODUCTION: Chronic kidney disease is a serious health problem in El Salvador. Since the 1990s, there has been an increase in cases unassociated with traditional risk factors. It is the second leading cause of death in men aged >18 years. In 2009, it was the first cause of in-hospital death for men and the fifth for women. The disease has not been thoroughly studied. OBJECTIVE: Characterize clinical manifestations (including extrarenal) and pathophysiology of chronic kidney disease of nontraditional causes in Salvadoran farming communities. METHODS: A descriptive clinical study was carried out in 46 participants (36 men, 10 women), identified through chronic kidney disease population screening of 5018 persons. Inclusion criteria were age 18-59 years; chronic kidney disease at stages 2, 3a and 3b, or at 3a and 3b with diabetes or hypertension and without proteinuria; normal fundoscopic exam; no structural abnormalities on renal ultrasound; and HIV-negative. Examinations included social determinants; psychological assessment; clinical exam of organs and systems; hematological and biochemical parameters in blood and urine; urine sediment analysis; markers of renal damage; glomerular and tubular function; and liver, pancreas and lung functions. Renal, prostate and gynecological ultrasound; and Doppler echocardiography and peripheral vascular and renal Doppler ultrasound were performed. RESULTS: Patient distribution by chronic kidney disease stages: 2 (32.6%), 3a (23.9%), 3b (43.5%). Poverty was the leading social determinant observed. Risk factor prevalence: agrochemical exposure (95.7%), agricultural work (78.3%), male sex (78.3%), profuse sweating during work (76.3%), malaria (43.5%), NSAID use (41.3%), hypertension (36.9%), diabetes (4.3%). General symptoms: arthralgia (54.3%), asthenia (52.2%), cramps (45.7%), fainting (30.4). Renal symptoms: nycturia (65.2%), dysuria (39.1%), foamy urine (63%). Markers of renal damage: macroalbuminuria (80.4%), ß2 microglobulin (78.2%), NGAL (26.1%). Renal function: hypermagnesuria (100%), hyperphosphaturia (50%), hypernatriuria (45.7%), hyperkaluria (23.9%), hypercalciuria (17.4%), electrolyte polyuria (43.5%), metabolic alkalosis (45.7%), hyponatremia (47.8%), hypocalcemia (39.1%), hypokalemia (30.4%), hypomagnesemia (19.6%). Imaging: Ultrasound showed fatty liver (93.5%) and vascular Doppler showed tibial artery damage (66.7%). Neurological symptoms: abnormal tendon reflexes (45.6%), Babinski sign and myoclonus (6.5%), sensorineural hearing loss (56.5%). CONCLUSIONS: This chronic kidney disease studied behaves clinically like chronic tubulointerstitial nephropathy, but with systemic manifestations not attributable to kidney disease. While male agricultural workers predominated, women and adolescents were also affected. Findings support a hypothesis of multifactorial etiology with a key role played by nephrotoxic environmental agents.
Asunto(s)
Agroquímicos/envenenamiento , Insuficiencia Renal Crónica/epidemiología , Determinantes Sociales de la Salud , Adolescente , Adulto , Distribución por Edad , Agricultura , Biomarcadores/sangre , Biomarcadores/orina , Índice de Masa Corporal , El Salvador/epidemiología , Exposición a Riesgos Ambientales/efectos adversos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Polímeros/análisis , Pobreza , Prevalencia , Insuficiencia Renal Crónica/diagnóstico por imagen , Insuficiencia Renal Crónica/fisiopatología , Factores de Riesgo , Distribución por Sexo , Ultrasonografía , Adulto JovenRESUMEN
OBJECTIVE: The increasing burdens of obesity and diabetes are two of the most prominent threats to the health of populations of developed and developing countries alike. The Central America Diabetes Initiative (CAMDI) is the first study to examine the prevalence of diabetes in Central America. RESEARCH DESIGN AND METHODS: The CAMDI survey was a cross-sectional survey based on a probabilistic sample of the noninstitutionalized population of five Central American populations conducted between 2003 and 2006. The total sample population was 10,822, of whom 7,234 (67%) underwent anthropometry measurement and a fasting blood glucose or 2-h oral glucose tolerance test. RESULTS: The total prevalence of diabetes was 8.5%, but was higher in Belize (12.9%) and lower in Honduras (5.4%). Of the screened population, 18.6% had impaired glucose tolerance/impaired fasting glucose. CONCLUSIONS: As this population ages, the prevalence of diabetes is likely to continue to rise in a dramatic and devastating manner. Preventive strategies must be quickly introduced.
Asunto(s)
Diabetes Mellitus/epidemiología , Hiperglucemia/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , América Central/epidemiología , Estudios Transversales , Complicaciones de la Diabetes/sangre , Complicaciones de la Diabetes/epidemiología , Diabetes Mellitus/sangre , Femenino , Humanos , Hiperglucemia/sangre , Hiperglucemia/complicaciones , Internacionalidad , Masculino , Persona de Mediana Edad , Prevalencia , Índice de Severidad de la Enfermedad , Adulto JovenRESUMEN
Approximately 25%-40% of ischemic strokes are considered of unknown cause (ie, cryptogenic). The available information on associated risk factors, functional outcome, and recurrence of this subtype of stroke is limited, especially for the Chilean population. We conducted a prospective cohort study of 380 patients aged ≥ 18 years admitted consecutively to a stroke unit with demonstrated ischemic stroke. The stroke subtypes were classified according to the Trial of Org 10172 in Acute Stroke Treatment criteria. The modified Rankin Scale score and Barthel Index were used to assess functional outcome. The Kaplan-Meier product-limit method and Cox proportional hazards regression analysis were used to identify predictors of recurrent stroke during the follow-up period (mean, 2.1 years). Cryptogenic stroke (CS) was diagnosed in 76 patients (20%), 55.2% of them male, with a mean age of 62 ± 17 years. CS was the third most common stroke subtype after the large-artery disease (29%) and cardioembolic (24.4%) subtypes. After adjustment for age and sex, no vascular risk factors or laboratory parameters assessed at the time of admission were found to be predictive of CS. The CS subtype had the lowest rate of stroke recurrence at the end of the follow-up period (n = 4; 2.5% per year; odds ratio, 0.32; 95% confidence interval, 0.11-0.91; P = .022), a favorable functional outcome (mean modified Rankin Scale score, 2; mean Barthel Index, 77), and no increase in mortality risk (odds ratio, 0.73; 95% confidence interval, 0.29-1.77; P = .48). Our findings demonstrate that patients with no definite etiology identified after an extensive workup are at lower risk of recurrence and more likely to have a favorable outcome. No risk factors distinguish CS from other stroke subtypes in our study population.
Asunto(s)
Isquemia Encefálica/epidemiología , Accidente Cerebrovascular/epidemiología , Adulto , Anciano , Anciano de 80 o más Años , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/mortalidad , Distribución de Chi-Cuadrado , Chile/epidemiología , Diagnóstico por Imagen/métodos , Evaluación de la Discapacidad , Femenino , Humanos , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Análisis Multivariante , Oportunidad Relativa , Pronóstico , Modelos de Riesgos Proporcionales , Estudios Prospectivos , Recurrencia , Factores de Riesgo , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/mortalidad , Factores de Tiempo , Adulto JovenRESUMEN
INTRODUCTION: In El Salvador, end-stage renal disease is the leading cause of hospital deaths in adults, the second cause of death in men and the fifth leading cause of death in adults of both sexes in the general population. OBJECTIVE: Identify risk factors for chronic kidney disease and urinary markers of renal and vascular damage, measure kidney function and characterize prevalence of chronic kidney disease in persons aged ≥18 years in the Bajo Lempa region of El Salvador. METHODS: A cross-sectional analytical epidemiological study was carried out using active screening for chronic kidney disease and associated risk factors in individuals aged ≥18 years in the Bajo Lempa Region, a rural, coastal area in El Salvador. Door-to-door visits and clinical examinations were conducted. Epidemiological and clinical data were collected including: family and personal clinical history of disease; biological, behavioral, social and environmental risk factors; physical measurements; urinalysis for markers of renal and vascular damage; and blood tests (serum creatinine, serum glucose, lipid profile). Glomerular filtration rate was calculated using the Modification of Diet in Renal Disease formula. Chronic kidney disease case confirmation was done three months later. Multiple logistic regression was used for data analysis. RESULTS: A total of 375 families and 775 individuals (343 men, 432 women) were studied-88.3% of the total resident population in the region. Elevated prevalence of risk factors was observed: diabetes mellitus, 10.3%; hypertension,16.9%; family history of chronic kidney disease, 21.6%; dyslipidemias, 63.1%; overweight, 34%; obesity, 22.4%; metabolic syndrome, 28.8%; use of non-steroidal anti-inflammatory drugs, 74.8%; infectious diseases, 86.9%; agricultural occupation, 40.6% (80.6% in men); and contact with agrochemicals, 50.3% (82.5% in men). Prevalence renal damage markers was 15.8% (greater in men): microalbuminuria 6.3%; proteinuria 5.7%; hematuria 3.5%; proteinuria-hematuria 0.3%. Proteinuria of <1 g/L predominated. Prevalence of chronic kidney disease was 17.9% (25.7% in men; 11.8% in women). Distribution by stages: stage 1, 4.6%; stage 2, 3.5%; stage 3, 6.2%; stage 4, 3.0%; stage 5, 0.6%. In patients with chronic kidney disease, most common was non-diabetic chronic kidney disease (86.3%), followed by chronic kidney disease associated with neither diabetes nor hypertension (54.7%). Prevalence of chronic renal failure was 9.8% (17% in men; 4.1% in women). Multiple logistic regression showed significant association with increasing age, male sex, hypertension and family history of chronic kidney disease. CONCLUSIONS: Elevated prevalence of chronic kidney disease, chronic renal failure and risk factors was found, compared to international reports. Most common was chronic kidney disease of unknown cause, associated with neither diabetes nor hypertension. Associations were found with age, male sex, hypertension and family history of chronic kidney disease, with decline in kidney function beginning at early ages. Male farmers have a dual burden of non traditional (occupational, toxic environmental) and traditional (vascular) risk factors that could act in synergy, contributing to kidney damage.
INTRODUCCIÓN En El Salvador, la enfermedad renal crónica terminal es la causa principal de muerte hospitalaria en adultos, la segunda causa de muerte en los hombres y la quinta causa principal de muerte entre adultos de ambos sexos en la población general. OBJETIVO Identificar los factores de riesgo de la enfermedad renal crónica y los marcadores de daño renovascular en orina, medir la función renal y caracterizar la prevalencia de enfermedad renal crónica en personas X18 años de edad en la región del Bajo Lempa en El Salvador. METODOS Se realizó un estudio epidemiológico transversal y analítico de la enfermedad renal crónica y los factores de riesgo asociados en individuos con edades X18 años por medio de pesquisa activa en la Región del Bajo Lempa, una zona costera rural en El Salvador. Se efectuaron visitas casa por casa y consultas médicas. Se recolectaron datos epidemiológicos y clínicos que incluían: historia clínica personal y familiar para la enfermedad; factores de riesgo biológicos, de conducta, sociales y ambientales; mediciones físicas; análisis de orina buscando marcadores de daño renovascular y exámenes de sangre (creatinina y glucosa en suero, lipidograma). La tasa de filtración glomerular se calculó usando la fórmula de MDRD (sigla en inglés de Modificación de la Dieta en la Enfermedad Renal). La confirmación de casos de enfermedad renal crónica se realizó en un período de tres meses. Se utilizó la regresión logística múltiple para analizar los datos. RESULTADOS Se estudiaron un total de 375 familias y 775 individuos (343 hombres, 432 mujeres), el 88,3% del total de la población residente en la región. Se observó una elevada prevalencia de factores de riesgo: diabetes mellitus en 10,3%; hipertensión en 16,9%; antecedentes familiares de enfermedad renal crónica en 21,6%; dislipidemias en 63,1%; sobrepeso en 34%; obesidad en 22,4%; síndrome metabólico en 28,8%; uso de medicamentos anti-inZ amatorios no esteroideos en 74,8%, enfermedades infecciosas en 86,9%, 40,6 % eran agricultores (80,6% de los hombres) y 50,3% tenían contacto con agroquímicos (82,5% de los hombres). La prevalencia de marcadores de daño renal fue de 15,8% (mayor en los hombres): microalbuminuria de 6,3%; proteinuria de 5,7%; hematuria de 3,5%; proteinuria-hematuria de 0,3%. Predominó la proteinuria <1 g/L. La prevalencia de enfermedad renal crónica fue de 17,9% (25,7 en los hombres; 11,8% en las mujeres). La distribución por estadios fue la siguiente: estadio 1, un 4,6%; estadio 2, un 3,5%' estadio 3, un 6,2%; estadio 4, un 3,0% y en estadio 5, un 0,6%. En pacientes con enfermedad renal crónica, la más común fue la enfermedad renal crónica no diabética (86,3%), seguida de la enfermedad renal crónica no asociada a diabetes ni a hipertensión (54,7%). La prevalencia de la insuficiencia renal crónica fue de 9,8% (17% en los hombres y 4,1% en mujeres). La regresión logística múltiple mostro una asociación significativa con el aumento de la edad, sexo masculino, hipertensión y antecedentes familiares de enfermedad renal crónica. CONCLUSIONES Se halló una elevada prevalencia de enfermedad renal crónica, insuficiencia renal crónica y factores de riesgo en comparación con lo reportado internacionalmente. La más frecuente fue la enfermedad renal crónica de causa desconocida, no asociada con diabetes ni hipertensión. Se encontraron asociaciones con la edad, sexo masculino, hipertensión e historia familiar de enfermedad renal crónica, con una disminución de la función renal que comienza a edades tempranas. Los agricultores hombres tienen la doble carga de riesgos no tradicionales (ocupacionales, toxico-ambientales) y tradicionales (vasculares) que podrían actuar de manera sinérgica, contribuyendo al daño renal. PALABRAS CLAVE Enfermedad renal crónica/epidemiologia, factores de riesgo, prevalencia, salud ocupacional, salud ambiental, plaguicidas, agroquímicos, El Salvador
Asunto(s)
Fallo Renal Crónico/epidemiología , Adulto , Biomarcadores/orina , Causas de Muerte , Estudios Transversales , El Salvador/epidemiología , Femenino , Humanos , Modelos Logísticos , Masculino , Tamizaje Masivo , Prevalencia , Factores de Riesgo , Población RuralRESUMEN
We report the clinical features of the original Chilean family with Kufor-Rakeb syndrome (KRS) that led to the discovery of the ATP13A2 gene at the PARK9 locus. KRS is a rare juvenile-onset autosomal recessive disease characterized by progressive Parkinsonism, pyramidal signs, and cognitive decline in addition to vertical gaze palsy and facial-faucial-finger minimyoclonus. Neurological and neuropsychological examination during a 10-year period, videotaping, neuroimaging, and measurement of DNA methylation of the ATP13A2 promoter region were performed. The youngest 5 of 17 children of nonconsanguineous parents, carrying compound-heterozygous ATP13A2 mutations, had normal development until ages â¼10 to 12 years, when school performance deteriorated and slowness, rigidity, and frequent falls developed. Examination revealed bradykinesia, subtle postural/action tremor, cogwheel rigidity, spasticity, upward gaze palsy, smooth pursuit with saccadic intrusions, and dementia. Additional signs included facial-faucial-finger minimyoclonus, absent postural reflexes, visual/auditory hallucinations, and insomnia. Levodopa response could not be fully judged in this family. T2* magnetic resonance imaging sequences revealed marked diffuse hypointensity of the caudate (head and body) and lenticular nucleus bilaterally. Disease progression was slow including epilepsy, cachexia, and anarthria. Four affected members died after 28.5 ± 5.5 (mean ± SD) years of disease. Two heterozygous carriers, the mother and eldest sibling, showed jerky perioral muscle contractions and clumsiness of hand movements. There was no significant correlation between DNA methylation of the ATP13A2 promoter region and disease progression. The marked caudate and lenticular nucleus T2*-hypointensity suggests that KRS might belong to the family of neurodegenerative diseases associated with brain iron accumulation.
Asunto(s)
Encéfalo/fisiopatología , ATPasas de Translocación de Protón/genética , Edad de Inicio , Encéfalo/patología , Chile , Metilación de ADN , Progresión de la Enfermedad , Pruebas Genéticas , Humanos , Imagen por Resonancia Magnética , Examen Neurológico , Pruebas Neuropsicológicas , Trastornos Parkinsonianos/genética , Trastornos Parkinsonianos/patología , Trastornos Parkinsonianos/fisiopatología , Linaje , Regiones Promotoras GenéticasRESUMEN
BACKGROUND: A higher risk of poststroke cognitive impairment (CI) has been reported in Hispanics in a US cohort but has not been systematically studied in Latin America. OBJECTIVES: Our purpose was to investigate the frequencies and determinants of poststroke CI in the hispano-mestizo population of Santiago, Chile. METHODS: A prospective study of hospitalized patients aged >60 years admitted with an ischemic or hemorrhagic stroke was conducted. The cognitive status was determined at 3 and 12 months after the stroke by informant questionnaires, neuropsychological testing and clinical diagnosis. Cardiovascular risk factors, brain imaging and stroke features were analyzed using regression models to establish determinants for poststroke CI. RESULTS: A total of 164 patients (mean age = 72 +/- 7.5 years) were recruited. Out of 122 patients (74%) evaluated at 3 months, 81 (66%) had CI. Out of 101 patients (62%) evaluated at 12 months, 39 (39%) had CI no dementia, and 22 (22%) were demented. The new-onset dementia frequency at 1 year was 16%. Independent determinants for dementia were higher functional impairment at hospital egress (OR = 4.0), left-hemisphere large-vessel infarction (OR = 6.9) and a larger amount of white matter changes (OR = 1.3). CONCLUSIONS: In this first study on poststroke CI in Latin America, the frequencies and determinants of poststroke CI were similar to those in other cohorts of different ethnic origin.
Asunto(s)
Trastornos del Conocimiento/epidemiología , Trastornos del Conocimiento/psicología , Accidente Cerebrovascular/epidemiología , Accidente Cerebrovascular/psicología , Anciano , Anciano de 80 o más Años , Envejecimiento/fisiología , Chile/epidemiología , Trastornos del Conocimiento/etiología , Estudios de Cohortes , Demencia/epidemiología , Demencia/etiología , Demencia/psicología , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Estudios Prospectivos , Accidente Cerebrovascular/complicaciones , Tomografía Computarizada por Rayos XRESUMEN
A 16-year-old boy recently diagnosed with acute posterior multifocal placoid pigment epitheliopathy (APMPPE) developed an acute infarct in the left pontine region. No relevant abnormalities were found in the brain and cervical angiography, echocardiography, cerebrospinal fluid, and blood samples. Funduscopically, lesions were multiple circumscribed, creamy yellow patches, flat lesions at the level of the retinal pigment epithelium, and the fluorescence angiography confirmed an APMPPE. All visual and neurological symptoms reverted completely after use of steroid. Our patient is the youngest patient with APMPPE and stroke described so far, being the common age presentation between 20 to 40 years.