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Cervical laminoplasty with unilateral C4-5 foraminotomy: Technical note and case series
No full textObjective
The open-door laminoplasty technique is widely used in the treatment of multilevel cervical myelopathy. Despite the satisfactory functional and radiological results of this technique, postoperative C5 palsy is still a severe and disabling complication with a variable incidence in the literature. The objective of this article is to describe and demonstrate the surgical technique step by step with the addition of unilateral C4-5 foraminotomy and to evaluate the results obtained to date, with special emphasis on C5 palsy.
Material and methods
Retrospective study of 20 patients operated on for cervical myelopathy using the “extended” laminoplasty technique, which is described step by step.
Results
Between January 2013 and April 2019, 20 patients were operated on using the extended laminoplasty technique. Only one patient (5%) presented postoperative C5 palsy. The postoperative recovery rate of the modified JOA (Japanese Orthopaedic Association) score was 54.5%, similar to that observed in other series.
Conclusion
The extended cervical laminoplasty technique with unilateral C4-5 foraminotomy was developed and demonstrated for the prevention of C5 palsy. The results were analysed and an incidence of C5 palsy coinciding with the lowest percentage reported in the literature was obtained. A prospective randomised study would be useful to assess the role of preventive unilateral C4-5 foraminotomy.Fil: Marcó del Pont, Francisco. Fleni. Departamento de Neurocirugía; Argentina.Fil: Giovannini, Sebastián Juan María. Fleni. Departamento de Neurología; Argentina.Fil: Ries Centeno, Tomás. Fleni. Departamento de Neurología; Argentina.Fil: Lorefice, Fernando. Fleni. Departamento de Neurología; Argentina.Fil: Caffaratti, Guido. Fleni. Departamento de Neurología; Argentina.Fil: Cervio, Andrés Eduardo. Fleni. Departamento de Neurocirugía; Argentina
Embryo aggregation and adipose-derived mesenchymal donor cells in bovine somatic cell nuclear transfer
No full textSomatic cell nuclear transfer (SCNT) is a powerful tool, but its efficiency remains low. The use of less differentiated donor cells or the embryo aggregation (EA) strategy improves the SCNT rates in several species. It remains unexplored whether the combined use of both strategies results in a synergistic effect that improves SCNT efficiency in bovine. To evaluate that, we assessed the optimal time of EA using IVF embryos (aim 1) and we evaluated whether the use of adipose-derived mesenchymal stem cells (ASC) as donor for SCNT together with EA improves the blastocyst rates and quality (aim 2). For aim 1, cumulus–oocyte complexes (COCs) were collected from slaughterhouse ovaries, in vitro matured (TCM-199), fertilized (16 × 106 spermatozoa mL−1 for 5 h) and cultured (synthetic oviductal fluid media in a humidified gas mixture at 39°C). After IVF, the zona pellucida was enzymatically removed and zona-free (ZF) embryos were cultured individually (1X) or 2 embryos placed together within a microwell (2X) (Day 0, n = 70). This procedure was performed at Days 3, 4, 5, 6, or 7 (n = 76, 78, 94, 96, 90, respectively) and blastocyst rate was assessed at Day 8. Contribution of both embryos to the 2X blastocyst was confirmed by staining Day 0 IVF embryos either with green or red Mitotracker (ThermoFisher Scientific) before EA. For aim 2, fibroblast (FB) and ASC cells were isolated from the skin and subcutaneous adipose tissue of the same adult animal, respectively. Cloned embryos were produced by ZF enucleation, fusion of one ASC or FB cell, and activation with 5 μM ionomycin/6-(dimethylamino)purine (6DMAP). After activation, cloned embryos were aggregated (FB2X or ASC2X) or individually cultured (FB1X or ASC1X). Blastocyst rates were recorded at Day 7 of in vitro culture. Three biological replicates were evaluated for each aim. Embryo developmental differences were determined using Fisher’s exact test. Relative expression of OCT4, SOX2, and KRT18 was measured by RTqPCR at the blastocyst stage and analysed by Kruskal–Wallis statistical test. Regarding aim 1, no differences for developmental rates were found for Day 0, 3, 4, and 5 groups (57%, 60%, 61.5%, 61%), but the blastocyst rate was only improved in Day 0 and Day 3 relative to their respective 1X controls (Day 0 2X 54.2% vs. Day 0 1X 25.5% and Day 3 2X 52.6% vs. Day 3 1X 25.3%). No aggregation occurred in Day 6 and Day 7 groups. All blastomeres were homogeneously distributed in the 2X blastocyst. Regarding aim 2, no effect of the donor cell was observed on the blastocyst rate (FB1X 26.8%, n = 82; ASC1X 21.7%, n = 198; FB2X 39.7%, n = 126; ASC2X 33%, n = 204), whereas EA improved the blastocyst rate of ASC-derived embryos (ASC1X 21.7% vs. ASC2X 33%). Overall, no synergistic effect of the use of both strategies was observed. Relative expression of KRT18 was significantly different between ASC1X and ASC2X embryos. Although OCT4 and SOX2 expression did not differ between groups, EA tended to bring the values closer to that of an IVF embryo. No effect of the donor cell was observed on the embryo relative expression. Our results suggest that EA at Day 0 improves the blastocyst rate in bovine SCNT and IVF embryos. EA of 2 ASC-derived embryos seemed to normalise the embryo quality and may improve post-implantation development.Fil: Alberio, V. Universidad de Buenos Aires. Facultad de Agronomía. Laboratorio de Biotecnología Animal; Argentina.Fil: Savy, V. Universidad de Buenos Aires. Facultad de Agronomía. Laboratorio de Biotecnología Animal; Argentina.Fil: Vans Landschoot, G. Universidad de Buenos Aires. Facultad de Agronomía. Laboratorio de Biotecnología Animal; Argentina.Fil: Moro, Lucía Natalia. Fleni. Laboratorio de Investigación Aplicada a las Neurociencias; Argentina.Fil: Olea, F.D. Universidad Favaloro; Argentina.Fil: Rodríguez Álvarez, L. Universidad de Concepción; Chile.Fil: Salamone, D.F. Universidad de Buenos Aires. Facultad de Agronomía. Laboratorio de Biotecnología Animal; Argentina
What percentage of AQP4-ab-negative NMOSD patients are MOG-ab positive? A study from the Argentinean multiple sclerosis registry (RelevarEM)
No full textBackground
Myelin oligodendrocyte glycoprotein antibodies (MOG-ab) have been described in aquaporin-4-antibodies(AQP4-ab)-negative neuromyelitis optica spectrum disorder (NMOSD) patients. We aimed to evaluate the percentage of AQP4-ab-negative NMOSD patients who are positive for MOG-ab in a cohort of Argentinean patients included in RelevarEM (Clinical Trials registry number NCT03375177).
Methods
RelevarEM is a longitudinal, strictly observational multiple sclerosis (MS) and NMOSD registry in Argentina. Of 3031 consecutive patients (until March 2020), 165 patients with phenotype of suspected NMOSD, whose relevant data for the purpose of this study were available, were included. Data on demographic, clinical, paraclinical and treatment in AQP4-ab (positive, negative and unknown) and MOG-ab (positive and negative) patients were evaluated.
Results
A total of 165 patients (79 AQP4-Ab positive, 67 AQP4-Ab negative and 19 unknown) were included. Of these, 155 patients fulfilled the 2015 NMOSD diagnostic criteria. Of 67 AQP4-Ab-negative patients, 36 (53.7%) were tested for MOG-Ab and 10 of them (27.7%) tested positive. Serum AQP4-ab levels were tested by means of cell-based assay (CBA) in 48 (35.2%), based on tissue-based indirect immunofluorescence assays in 58 (42.6%) and enzyme-linked immunosorbent assay in 4 (2.9%). All MOG-ab were tested by CBA. Optic neuritis (90%) was the most frequent symptom at presentation and optic nerve lesions the most frequent finding (80%) in neuroimaging of MOG-ab-associated disease. Of these, six (60%) patients were under immunosuppressant treatments at latest follow-up.
Conclusion
We observed that 27.7% (10/36) of the AQP4-ab-negative patients tested for MOG-ab were positive for this antibody, in line with results from other world regions.Fil: Carnero Contentti, Edgar. Hospital Alemán. Departamento de Neurociencias. Unidad de Neuroinmunología; Argentina.Fil: López, Pablo Adrián. Hospital Alemán. Departamento de Neurociencias. Unidad de Neuroinmunología; Argentina.Fil: Pettinicchi, Juan Pablo. Hospital Alemán. Departamento de Neurociencias. Unidad de Neuroinmunología; Argentina.Fil: Pappolla, Agustín. Hospital Italiano de Buenos Aires. Servicio de Neurología; Argentina.Fil: Miguez, Jimena. Hospital Italiano de Buenos Aires. Servicio de Neurología; Argentina.Fil: Patrucco, Liliana. Hospital Italiano de Buenos Aires. Servicio de Neurología; Argentina.Fil: Cristiano, Edgardo. Centro de esclerosis múltiple de Buenos Aires; Argentina.Fil: Vrech, Carlos. Sanatorio Allende. Departamento de Enfermedades Desmielinizantes; Argentina.Fil: Tkachuk, Verónica A. Hospital de Clínicas José de San Martín. Servicio de Neurología. Sección de Neuroinmunología y Enfermedades Desmielinizantes; Argentina.Fil: Liwacki, Susana. Clínica Universitaria Reina Fabiola. Servicio de Neurología; Argentina.Fil: Correale, Jorge. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; ArgentinaFil: Marrodán, Mariano. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; Argentina.Fil: Gaitán, María Inés. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; Argentina.Fil: Fiol, Marcela Paula. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; Argentina.Fil: Negrotto, Laura. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; Argentina.Fil: Ysrraelit, María Célica. Fleni. Departamento de Neurología. Servicio de Neuroinmunología y Enfermedades Desmielinizantes; Argentina.Fil: Burgos, Marcos. Hospital San Bernardo. Servicio de Neurología; Argentina.Fil: Leguizamon, Felisa. Hospital de Agudos Dr. Teodoro Álvarez; Argentina.Fil: Tavolini, Darío. INECO; Argentina.Fil: Deri, Norma. Centro de Investigaciones Diabaid; Argentina
Comparison of CSF biomarkers in Down syndrome and autosomal dominant Alzheimer's disease: a cross-sectional study
No full textBackground
Due to trisomy of chromosome 21 and the resultant extra copy of the amyloid precursor protein gene, nearly all adults with Down syndrome develop Alzheimer's disease pathology by the age of 40 years and are at high risk for dementia given their increased life expectancy compared with adults with Down syndrome in the past. We aimed to compare CSF biomarker patterns in Down syndrome with those of carriers of autosomal dominant Alzheimer's disease mutations to enhance our understanding of disease mechanisms in these two genetic groups at high risk for Alzheimer's disease.
Methods
We did a cross-sectional study using data from adults enrolled in the Alzheimer's Biomarker Consortium-Down Syndrome (ABC-DS) study, a multisite longitudinal study of Alzheimer's disease in Down syndrome, as well as a cohort of carriers of autosomal dominant Alzheimer's disease mutations and non-carrier sibling controls enrolled in the Dominantly Inherited Alzheimer Network (DIAN) study. For ABC-DS, participants with baseline CSF, available clinical diagnosis, and apolipoprotein E genotype as of Jan 31, 2019, were included in the analysis. DIAN participants with baseline CSF, available clinical diagnosis, and apolipoprotein E genotype as of June 30, 2018, were evaluated as comparator groups. CSF samples obtained from adults with Down syndrome, similarly aged carriers of autosomal dominant Alzheimer's disease mutations, and non-carrier siblings (aged 30–61 years) were analysed for markers of amyloid β (Aβ1–40, Aβ1–42); tau phosphorylated at threonine 181-related processes; neuronal, axonal, or synaptic injury (total tau, visinin-like protein 1, neurofilament light chain [NfL], synaptosomal-associated protein 25); and astrogliosis and neuroinflammation (chitinase-3-like protein 1 [YKL-40]) via immunoassay. Biomarker concentrations were compared as a function of dementia status (asymptomatic or symptomatic), and linear regression was used to evaluate and compare the relationship between biomarker concentrations and age among groups.
Findings
We assessed CSF samples from 341 individuals (178 [52%] women, 163 [48%] men, aged 30–61 years). Participants were adults with Down syndrome (n=41), similarly aged carriers of autosomal dominant Alzheimer's disease mutations (n=192), and non-carrier siblings (n=108). Individuals with Down syndrome had patterns of Alzheimer's disease-related CSF biomarkers remarkably similar to carriers of autosomal dominant Alzheimer's disease mutations, including reductions (all p<0·0080) in Aβ1–42 to Aβ1–40 ratio and increases in markers of phosphorylated tau-related processes; neuronal, axonal, and synaptic injury (p<0·080); and astrogliosis and neuroinflammation, with greater degrees of abnormality in individuals with dementia. Differences included overall higher concentrations of Aβ and YKL-40 (both p<0·0008) in Down syndrome and potential elevations in CSF tau (p<0·010) and NfL (p<0·0001) in the asymptomatic stage (ie, no dementia symptoms).Fil: Fagan, Anne M. Washington University School of Medicine; Estados Unidos.Fil: Henson, Rachel L. Washington University School of Medicine; Estados Unidos.Fil: Li, Yan. Washington University School of Medicine; Estados Unidos.Fil: Boerwinkle, Anna H. Washington University School of Medicine; Estados Unidos.Fil: Xiong, Chengjie. Washington University School of Medicine; Estados Unidos.Fil: Bateman, Randall J. Washington University School of Medicine; Estados Unidos.Fil: Goate, Alison M. Icahn School of Medicine at Mount Sinai; Estados Unidos.Fil: Ances, Beau M. Washington University School of Medicine; Estados Unidos.Fil: Doran, Eric. UC Irvine School of Medicine; Estados Unidos.Fil: Christian, Bradley T. University of Wisconsin-Madison; Estados Unidos.Fil: Lai, Florence. Harvard Medical School; Estados Unidos.Fil: Rosas, H. Diana. Harvard Medical School; Estados Unidos.Fil: Schupf, Nicole. Columbia University Irving Medical Center; Estados Unidos.Fil: Krinsky-McHale, Sharon. New York State Institute for Basic Research in Developmental Disabilities; Estados Unidos.Fil: Silverman, Wayne. UC Irvine School of Medicine; Estados Unidos.Fil: Lee, Joseph H. Columbia University Irving Medical Center; Estados Unidos.Fil: Klunk, William E. University of Pittsburgh; Estados Unidos.Fil: Handen, Benjamin L. University of Pittsburgh; Estados Unidos.Fil: Allegri, Ricardo Francisco. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; Argentina
Correlation between 99mTc-TRODAT-1 SPECT and 18F-FDOPA PET in patients with Parkinson’s disease: a pilot study
No full textObjective: To determine whether technetium-99m-labeled tropane derivative single-photon emission computed tomography (99mTcTRODAT-1 SPECT) provides results comparable to those of the less widely available, less accessible tool fluorine-18-labeled fluorodopa positron-emission tomography (18F-FDOPA PET) in the setting of a movement disorders clinic.
Materials and Methods: In this prospective pilot study, eight subjects with a clinical diagnosis of Parkinson’s disease were randomly selected from among patients under treatment at a movement disorders clinic and submitted to 99mTc-TRODAT-1 SPECT and
18F-FDOPA PET. The results were read by two experienced observers, and a semiquantitative analysis was performed.
Results: The visual and semiquantitative analyses were concordant for all studies, showing that radiotracer uptake in the contralateral striatum on the most affected side was lower when 99mTc-TRODAT-1 SPECT was employed. The semiquantitative analysis
demonstrated a significant correlation between 18F-FDOPA PET and 99mTc-TRODAT-1 SPECT (r = 0.73; p < 0.01).
Conclusion: It appears that 99mTc-TRODAT-1 SPECT is a valid option for the study of dopaminergic function in a clinical setting.
Keywords: Parkinson disease/diagnostic imaging; Parkinsonian disorders/diagnostic imaging; Tomography, emission-computed,
single-photon/methods; Positron-emission tomography/methods; Tropanes/pharmacokinetics; Dihydroxyphenylalanine/analogs &
derivatives.Fil: Arena, Julieta E. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina.Fil: Urrutia, Leandro. Fleni. Departamento de Diagnóstico por Imágenes. Centro de Imágenes Moleculares; Argentina.Fil: Falasco, Germán. Fleni. Departamento de Diagnóstico por Imágenes. Centro de Imágenes Moleculares; Argentina.Fil: Ponce de Leon, Magdalena. Fleni. Departamento de Diagnóstico por Imágenes. Centro de Imágenes Moleculares; Argentina.Fil: Vázquez, Silvia. Fleni. Departamento de Diagnóstico por Imágenes. Centro de Imágenes Moleculares; Argentina.Fil: Rossi, Malco. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina.Fil: Merello, Marcelo. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina. Pontificia Universidad Católica Argentina; Argentina
Estimation of cognitive reserve and its impact on cognitive performance in older adults
No full textObjectives: Cognitive reserve provides evidence in the search for answers regarding the role that lifestyle has in the protection of cognition in old age. Through a structural equations model, different things were analyzed: the relative weight of education, occupational complexity, free time activities and the intelligence quotient in cognitive reserve; and its impact on three cognitive domains: memory, language and executive functions.
Design: A trail analysis was executed, using structural equations procedure.
Participants: 167 older participants (mean = 76.74 years, standard deviation = 6.8 years).
Measurements: Participants were assessed with: Sociodemographic Questionnaire, Occupational Activity Agency Questionnaire, Social Participation Questionnaire and Neuropsychological Evaluation Battery for: memory, language and executive functions.
Results: The cognitive reserve factor is well represented by the measures included, with values between .43 and .86, and shows a direct effect on language (β = .52, p < .001), executive functions (β = .77, p <.001), and memory (β = .36, p = .003).
Conclusions: In conclusion, lifestyle factors, such as education, occupational complexity, leisure time activities and intelligence quotient have an impact on the conformation of cognitive reserve and performance in some psychological processes.Fil: Feldberg, Carolina. Instituto de Neurociencias Buenos Aires; Argentina.Fil: Barreyro, Juan Pablo. Universidad de Buenos aires, Argentina.Fil: Tartaglini, Maria Florencia. Instituto de Neurociencias Buenos Aires; Argentina.Fil: Hermida, Paula Daniela. Universidad de Buenos aires, Argentina.Fil: Moya García, Lydia. Instituto de Neurociencias Buenos Aires; Argentina.Fil: Benetti, Laureana. Instituto de Neurociencias Buenos Aires; Argentina.Fil: Somale, María Verónica. Instituto de Neurociencias Buenos Aires; Argentina.Fil: Allegri, Ricardo Francisco. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; Argentina
Myostatin gene editing by CRISPR/Cas9 technology of Brangus fetal fibroblasts to produce edited embryos by cloning
No full textSome European cattle breeds, such as Charolais and Maine Anjou, have natural mutations in the myostatin gene (MSTN) that inhibit its expression and result in an increase in muscle mass and protein content. An innovative hallmark would be the in vitro introduction of this genotype in South America cattle breeds to improve their commercial value. To achieve this, we aimed to disrupt MSTN gene expression in bovine fetal fibroblasts (BFFs) using CRISPR/Cas9 technology and to generate MSTN-edited embryos by somatic cell nuclear transfer (SCNT). BFFs were isolated from a cloned fetus of a Brangus bull with a prized genetic background and nucleofected with the Cas9 ribonucleoprotein-gRNA complex previously assessed to target exon 2 of the bovine MSTN gene. To evaluate MSTN editing, genomic DNA from the wild-type (WT) and nucleofected BFFs were isolated, exon 2 of MSTN was amplified by PCR, and the PCR product was Sanger sequenced. In all cases, the sequencing results were analysed using the indel Synthego software tool. According to indel analysis, MSTN gene editing efficiency of the BFFs was 58.83% ± 3.2 (n = 6). The resulting edit consisted of insertion of thymine in exon 2 of the MSTN gene that shifted the gene reading frame, introducing a premature stop codon and generating a truncated MSTN protein. The nucleofected BFFs were then used to generate embryos by SCNT, and WT BFFs were included as controls. Embryo cleavage and blastocyst development rates were evaluated at Day 2 and 7, respectively (Chi-squared test, P < 0.05). Although lower cleavage rates were obtained in the MSTN-edited BFFs group [65.3% (n = 273/418) vs. 87.6% (n = 169/193)], no differences were observed at the blastocyst stage [19.1% (n = 80/418) vs. 25.4% (n = 49/193)]. To confirm the efficiency of MSTN editing in the cloned embryos, 10 blastocysts generated with the MSTN-edited BFFs were individually analysed for MSTN exon 2 sequence as described before. The results showed that 30% of the blastocysts (3/10) presented a homozygous biallelic edition, which consisted of a thymine base insertion, as expected. In summary, the strategy we used allowed production of MSTN null cloned Brangus embryos avoiding putative undesired integration of exogenous DNA into the bovine genome, such as plasmid sequence, regardless of off-target occurrences. We conclude that CRISPR/Cas9 is an efficient technique to disrupts MSTN gene expression in bovine embryos; this work represents a step toward improving the production efficiency of South American cattle breeds.Fil: Bastón, Juan Ignacio. Kheiron Biotech; Argentina.Fil: Viale, Diego Luis. Universidad Nacional de San Martín; Argentina.Fil: Olguin, M. Kheiron Biotech; Argentina.Fil: Wiedenmann, Elisabet. Kheiron Biotech; Argentina.Fil: Arnold, Victoria. Kheiron Biotech; Argentina.Fil: Suva, M. Kheiron Biotech; Argentina.Fil: Luzzani, Carlos. Fleni. Laboratorio de Investigación Aplicada a las Neurociencias; Argentina.Fil: Miriuka, Santiago Gabriel. Fleni. Laboratorio de Investigación Aplicada a las Neurociencias; Argentina.Fil: Moro, Lucía Natalia. Fleni. Laboratorio de Investigación Aplicada a las Neurociencias; Argentina.Fil: Vichera, Gabriel. Kheiron Biotech; Argentina
Pediatric posterior ischemic stroke due to compression of vertenral artery: bow hunter’s syndrome
No full textAims & Objectives: Acute traumatic stroke of the cerebellum is rarely seen in children. It may occur after minor trauma or by rotational movements of the head. Causes may include compression and/or injury of the posterior vertebral artery secondary to bone defect. One particular form, “Bow Hunter’s stroke”, originally described by Sorensen in 1978, results from vertebral-basilar insufficiency induced by head movements causing intermittent vertebral artery compression at the atlanto-axial junction. Acute ischemic lesions in this vascular territory should be suspected, and investigated using imaging studies such as CT and brain MRI.
Methods: We present a case of a 7-year-old male with unremarkable medical history, with subacute left hemiparesis. MRI shows acute ischemic stroke secondary to dissection of the posterior vertebral artery, then confirmed by conventional angiography. CT reconstruction showed presence of a bone spur compressing the spinal canal at the level of the Occipito-axial junction. Although anticoagulation was prescribed, a second event occurred 20 days later, when he experienced vomiting and loos of consciousness. After surgical resection of the bone defect, patient post-operative recovery was uneventful and no further ischemic events were observed.
Results: Surgical resolution
Conclusions: Underlying causes or structural anomalies predisposing to stroke should be carefully evaluated and ruled out, since most are treatable and recurrences can be prevented, as in this case.Fil: Biaggi, Leticia. Fleni. Departamento de Neurología. Servicio de Neuropediatría. Unidad de Terapia intensiva Pediátrica; Argentina.Fil: Fulco, Vanesa. Fleni. Departamento de Neurología. Servicio de Neuropediatría; Argentina.Fil: Bembenuto, L. Fleni. Servicio de Clínica Médica. Unidad Terapia Intensiva; Argentina.Fil: Routaboul, Carlos. Fleni. Departamento de Neurocirugía. Servicio de Neurocirugía Pediátrica; Argentina.Fil: Chaves, Hernán. Fleni. Departamento de Diagnóstico por Imágenes; Argentina.Fil: Ameriso, Sebastián Francisco. Fleni. Departamento de Neurología. Servicio de Neurología Vascular; Argentina.Fil: Dossi, Daiana Elizabeth. Fleni. Departamento de Neurología. Servicio de Neurología Vascular; Argentina.Fil: Schteinschnaider, Ángeles. Fleni. Departamento de Neurología. Servicio de Neuropediatría; Argentina
Pattern and degree of individual brain atrophy predicts dementia onset in dominantly inherited Alzheimer's disease
No full textIntroduction
Asymptomatic and mildly symptomatic dominantly inherited Alzheimer's disease mutation carriers (DIAD-MC) are ideal candidates for preventative treatment trials aimed at delaying or preventing dementia onset. Brain atrophy is an early feature of DIAD-MC and could help predict risk for dementia during trial enrollment.
Methods
We created a dementia risk score by entering standardized gray-matter volumes from 231 DIAD-MC into a logistic regression to classify participants with and without dementia. The score's predictive utility was assessed using Cox models and receiver operating curves on a separate group of 65 DIAD-MC followed longitudinally.
Results
Our risk score separated asymptomatic versus demented DIAD-MC with 96.4% (standard error = 0.02) and predicted conversion to dementia at next visit (hazard ratio = 1.32, 95% confidence interval [CI: 1.15, 1.49]) and within 2 years (area under the curve = 90.3%, 95% CI [82.3%–98.2%]) and improved prediction beyond established methods based on familial age of onset.
Discussion
Individualized risk scores based on brain atrophy could be useful for establishing enrollment criteria and stratifying DIAD-MC participants for prevention trials.Fil: Keret, Ophir. University of California; Estados Unidos.Fil: Staffaroni, Adam M. University of California; Estados Unidos.Fil: Ringman, John M. University of Southern California; Estados Unidos.Fil: Cobigo, Yann. University of California; Estados Unidos.Fil: Goh, Sheng-Yang M. University of California; Estados Unidos.Fil: Wolf, Amy. University of California; Estados Unidos.Fil: Allen, Isabel Elaine. University of California; Estados Unidos.Fil: Salloway, Stephen. Brown University; Estados Unidos.Fil: Chhatwal, Jasmeer P. Harvard Medical School; Estados Unidos.Fil: Brickman, Adam M. Columbia University; Estados Unidos.Fil: Reyes-Dumeyer, Dolly. Columbia University; Estados Unidos.Fil: Bateman, Randall J. Washington University School of Medicine; Estados Unidos.Fil: Benzinger, Tammie L.S. Washington University School of Medicine; Estados Unidos.Fil: Morris, John C. Washington University School of Medicine; Estados Unidos.Fil: Ances, Beau M. Washington University School of Medicine; Estados Unidos.Fil: Joseph-Mathurin, Nelly. Washington University School of Medicine; Estados Unidos.Fil: Perrin, Richard J. Washington University School of Medicine; Estados Unidos.Fil: Gordon, Brian A. Washington University School of Medicine; Estados Unidos.Fil: Allegri, Ricardo Francisco. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; Argentina.Fil: Chrem Méndez, Patricio. Fleni. Departamento de Neurología. Servicio de Neurología Cognitiva, Neuropsicología y Neuropsiquiatría; Argentina
Headache with occipital neuralgia phenotype: Report of four cases
No full textBackground:
The International Headache Society defines Occipital neuralgia as an unilateral or bilateral paroxysmal, shooting or stabbing pain in the posterior part of the scalp, in the distribution(s) of the greater, lesser and/or third occipital nerves. The most common pain trigger in this area result from chronically contracted muscles. Different aetiologies of headache with occipital neuralgia phenotype have been described.
Case:
We report four cases in which pain with occipital neuralgia phenotype was the initial symptom of a clivus chordoma; a para-pharyngeal carcinoma; a vertebral dissection; and a brachial plexitis due to zoster.
Conclusion:
A detailed anamnesis and physical examination should be performed in these patients. If during follow up atypical finding appears, we recommend head and neck gadolinium-enhanced MRI and biochemistry to exclude secondary causes.Fil: Nagel, Vanesa. Fleni. Departamento de Neurología. Clínica del Dolor. Clínica de Cefaleas; Argentina.Fil: Bonamico, Lucas. Fleni. Departamento de Neurología. Clínica del Dolor. Clínica de Cefaleas; Argentina.Fil: Goicochea, María Teresa. Fleni. Departamento de Neurología. Clínica del Dolor. Clínica de Cefaleas; Argentin