Antecedent infections in Guillain-Barré syndrome in endemic areas of arbovirus transmission: A multinational case-control study.

Half of the world's population is at risk of arthropod-borne virus (arbovirus) infections. Several arbovirus infections have been associated with Guillain-Barré syndrome (GBS). We investigated whether arboviruses are driving GBS beyond epidemic phases of transmission and studied the antibody response to glycolipids. The protocol of the International Guillain-Barré syndrome Outcome Study (IGOS), an observational prospective cohort study, was adapted to a case-control design. Serum samples were tested for a recent infection with Zika virus (ZIKV), dengue virus (DENV), chikungunya (CHIKV) virus, hepatitis E virus, Epstein-Barr virus (EBV), cytomegalovirus (CMV), Campylobacter jejuni, and Mycoplasma pneumoniae, and for antibodies to glycolipids. Forty-nine patients were included from Brazil (63%), Argentina (14%), and Malaysia (22%). Evidence of a recent infection was found in 27/49 (55%) patients: C jejuni (n = 15, 31%), M pneumoniae (n = 5, 10%), CHIKV (n = 2, 4%), EBV (n = 1, 2%), C jejuni and M pneumoniae (n = 2, 4%), CMV and DENV (n = 1, 2%), and C jejuni and DENV (n = 1, 2%). In 22 patients, 35 paired controls were collected. Odds ratio for recent infections did not significantly differ between cases and controls. No typical anti-ganglioside antibody binding was associated with recent arbovirus infection. We conclude that arbovirus infections occur in GBS patients outside of epidemic viral transmission, although not significantly more than in controls. Broad infection and anti-ganglioside antibody serology are important to establish the most likely pathogenic trigger in GBS patients. Larger studies are necessary to determine the association between arboviruses and GBS.

AISYF: first national, prospective, multicenter study of young patients with stroke in Argentina.

Up to 15% of all strokes affect young patients and the incidence of ischemic stroke in this population is rising. Nevertheless, there is limited information of cerebrovascular events in this population both in our country and in Latin America. The aim of our study was to evaluate the clinical characteristics and risk factors of young adults with stroke in Argentina. This is a prospective, multicenter study of stroke in young adults (18 - 55 years) in Argentina. Patients presenting with a cerebrovascular event within 180 days were included. Stroke subtypes were classified according to TOAST criteria. A total number of 311 patients were enrolled (men 53.9%, mean age: 43.3 years). Ischemic strokes occurred in 91.8% (brain infarcts 82.6%, transient ischemic attack 9.2%) and hemorrhagic strokes in 8.2%. The most frequent vascular risk factors (including ischemic and hemorrhagic strokes) were: hypertension 120 (41%), smoking 92 (31.4%), dyslipidemia 81 (27.6%) and, overweight/obesity: 74 (25.3%). Stroke subtypes were: large artery disease 12.3%, cardioembolism 7.5%, small artery occlusion 11.5%, other defined etiology 27.1%, and undetermined etiology 41.6%. Our study demonstrates that vascular risk factors are very frequent in young adults with stroke. Our findings underline that urgent strategies are required for primary and secondary stroke prevention in this group of patients.

Aproximadamente un 15% de todos los ataques cerebrovasculares afectan a pacientes jóvenes y su incidencia estaría en aumento. Existe escasa información sobre el ataque cerebral en esta población tanto en nuestro país como en Latinoamérica. El objetivo de nuestro estudio fue evaluar las características clínicas y los factores de riesgo de los adultos jóvenes con ictus en Argentina. Realizamos un estudio prospectivo y multicéntrico en adultos jóvenes (18-55 años) en Argentina, que presentaron un evento cerebrovascular dentro de los 180 días previos. Los subtipos de ictus se clasificaron según los criterios de TOAST. Se incluyeron un total de 311 pacientes (hombres 53.9%, edad media: 43,3 años). Los ataques cerebrovasculares isquémicos ocurrieron en el 91.8% (infartos cerebrales 82.6%, ataque isquémico transitorio 9.2%) y los eventos hemorrágicos correspondieron al 8.2%. Los factores de riesgo vascular más frecuentes (incluyendo los eventos isquémicos y hemorrágicos) fueron: hipertensión 120 (41%), tabaquismo 92 (31.4%), dislipidemia 81 (27.6%) y sobrepeso/obesidad: 74 (25.3%). Los subtipos de ictus isquémicos fueron: arteriopatía de gran vaso 12.3%, cardioembolismo 7.5%, oclusión de pequeña arteria 11.5%, otra etiología definida 27.1% y etiología indeterminada 41.6%. Los factores de riesgo vascular son muy frecuentes en los adultos jóvenes con ictus. Nuestros hallazgos subrayan que se requieren estrategias urgentes para la prevención primaria y secundaria del ictus en este grupo particular de pacientes en nuestro país.

AISYF: first national, prospective, multicenter study of young patients with stroke in Argentina / AISYF: primer estudio nacional, prospectivo y multicéntrico de pacientes jóvenes con ataque cerebral en Argentina

Abstract Up to 15% of all strokes affect young patients and the incidence of ischemic stroke in this population is rising. Nevertheless, there is limited information of cerebrovascular events in this population both in our country and in Latin America. The aim of our study was to evaluate the clinical characteristics and risk factors of young adults with stroke in Argentina. This is a prospective, multicenter study of stroke in young adults (18 - 55 years) in Argentina. Patients presenting with a cerebrovascular event within 180 days were included. Stroke subtypes were classified according to TOAST criteria. A total number of 311 patients were enrolled (men 53.9%, mean age: 43.3 years). Ischemic strokes occurred in 91.8% (brain infarcts 82.6%, transient ischemic attack 9.2%) and hemorrhagic strokes in 8.2%. The most frequent vascular risk factors (including ischemic and hemorrhagic strokes) were: hypertension 120 (41%), smoking 92 (31.4%), dyslipidemia 81 (27.6%) and, over weight/obesity: 74 (25.3%). Stroke subtypes were: large artery disease 12.3%, cardioembolism 7.5, small artery occlusion 11.5%, other defined etiology 27.1%, and undetermined etiology 41.6%. Our study demonstrates that vascular risk factors are very frequent in young adults with stroke. Our findings underline that urgent strategies are required for primary and secondary stroke prevention in this group of patients.

Resumen Aproximadamente un 15% de todos los ataques cerebrovasculares afectan a pacientes jóvenes y su incidencia estaría en aumento. Existe escasa información sobre el ataque cerebral en esta población tanto en nuestro país como en Latinoamérica. El objetivo de nuestro estudio fue evaluar las características clínicas y los factores de riesgo de los adultos jóvenes con ictus en Argentina. Realizamos un estudio prospectivo y multicéntrico en adultos jóvenes (18-55 años) en Argentina, que presentaron un evento cerebrovascular dentro de los 180 días previos. Los subtipos de ictus se clasificaron según los criterios de TOAST. Se incluyeron un total de 311 pacientes (hombres 53.9%, edad media: 43,3 años). Los ataques cerebrovasculares isquémicos ocurrieron en el 91.8% (infartos cerebrales 82.6%, ataque isquémico transitorio 9.2%) y los eventos hemorrágicos correspondieron al 8.2%. Los factores de riesgo vascular más frecuentes (incluyendo los eventos isquémicos y hemorrágicos) fueron: hipertensión 120 (41%), tabaquismo 92 (31.4%), dislipidemia 81 (27.6%) y sobrepeso/obesidad: 74 (25.3%). Los subtipos de ictus isquémicos fueron: arteriopatía de gran vaso 12.3%, cardioembolismo 7.5%, oclusión de pequeña arteria 11.5%, otra etiología definida 27.1% y etiología indeterminada 41.6%. Los factores de riesgo vascular son muy frecuentes en los adultos jóvenes con ictus. Nuestros hallazgos subrayan que se requieren estrategias urgentes para la prevención primaria y secundaria del ictus en este grupo particular de pacientes en nuestro país.

Prevalence of Fabry Disease in Young Patients with Stroke in Argentina.

BACKGROUND: Fabry disease (FD) is an underdiagnosed cause of stroke in young adults, but the frequency of this association is largely unknown. We estimated the prevalence of FD in a nationwide cohort of young adults who had stroke and transient ischemic attack (TIA) in Argentina. METHODS: This was a prospective, multicenter study of stroke and FD in young adults (18-55 years) conducted in Argentina between 2011 and 2015. Patients were enrolled if they had had a TIA or an ischemic or hemorrhagic stroke within the previous 180 days. FD was diagnosed by measuring α-galactosidase A activity (males) and through genetic studies (females). RESULTS: We enrolled 311 patients (54% men, mean age: 41 years). Ischemic events occurred in 89% of patients (80% infarcts, 9% TIA) and hemorrhagic strokes in 11%. One female (.3% of the total group, 1% of the cryptogenic ischemic strokes) had the pathogenic mutation c.888G>A/p.Met296Ile /Exon 6 on the GAL gene. Her only other manifestation of FD was angiokeratoma. Eighteen females had nonpathogenic intronic variations: c.-10C>T, c.-12G>A, or both. Two patients had the nonpathogenic mutation D313Y, while a third had the likely benign mutation S126G. CONCLUSIONS: FD was identified in 1 patient (.3%) in this first Latin American study. The patient presented with a late-onset oligo-symptomatic form of the disease. A large number of nonpathogenic mutations were present in our cohort, and it is essential that they not be mistaken for pathogenic mutations to avoid unnecessary enzyme replacement treatment.

Diethylstilbestrol effects and lymphomagenesis in Mlh1-deficient mice.

Inherited defects in DNA mismatch repair (MMR) predispose to a variety of malignancies in humans and in mouse knockout models. In humans, hemizygosity for one of several DNA MMR genes greatly increases an individual's risk for colon and endometrial carcinoma. Hemizygous mice develop gastrointestinal tumors at a low to moderate frequency. Homozygous nulls have higher rates of gastrointestinal tumors and are particularly susceptible to lymphoma. In an effort to model endometrial carcinoma associated with mutation in MMR, we treated mice carrying knockout alleles for Mlh1 or Msh2 with the synthetic estrogen diethylstilbestrol (DES), a known promoter of uterine endometrial carcinoma. The C57BL/6 mice carrying DNA MMR mutations failed to develop endometrial carcinomas. However, the Mlh1-deficient mice treated with DES tended to become moribund at an early age and had very early onset of lymphoma. Comparison of DES-treated and untreated Mlh1-/- animals suggests the combination of Mlh1 deficiency and DES exposure accelerates lymphomagenesis.

Spindle cell ossifying amyloidotic tumor of the fallopian tube.

We report a unique tumor of the fallopian tube that was an incidental finding in a 60-year-old woman. The tumor was characterized by nests of spindle cells embedded in a partially ossified, hyalinized stroma, that also contained amyloid and basement membrane-like material. The histologic appearance of the tumor cells suggested an epithelial nature, but no immunohistochemical or ultrastructural evidence of such was found. The circumscription of the tumor and its lack of mitotic activity and cytologic atypia suggest a benign nature, but the histogenesis and appropriate classification of the tumor remain unclear.

Synovial lipomatosis (lipoma arborescens) affecting multiple joints in a patient with congenital short bowel syndrome.

Synovial lipomatosis is a rare, synovial based disorder that typically affects a single knee. Magnetic resonance imaging and synovial biopsy established this diagnosis in a patient who presented with a 20 year history of painless swelling of the knees, wrists, and hands. Such extensive involvement, particularly of hand joints and tendon sheaths, has not been described previously. Superimposed on this chronic soft tissue joint swelling were acute knee effusions, which responded to intraarticular steroid injections. The co-occurrence with congenital short bowel syndrome may have etiological implications for this disorder of inappropriate fat deposition.