13 results on '"Kleinert-Altamirano, Anke"'
Search Results
2. Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele
- Author
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González-Domínguez, Carlos Alberto, primary, Fiesco-Roa, Moisés O., additional, Gómez-Carmona, Samuel, additional, Kleinert-Altamirano, Anke Paula Ingrid, additional, He, Miao, additional, Daniel, Earnest James Paul, additional, Raymond, Kimiyo M., additional, Abreu-González, Melania, additional, Manrique-Hernández, Sandra, additional, González-Jaimes, Ana, additional, Salinas-Marín, Roberta, additional, Molina-Garay, Carolina, additional, Carrillo-Sánchez, Karol, additional, Flores-Lagunes, Luis Leonardo, additional, Jiménez-Olivares, Marco, additional, Muñoz-Rivas, Anallely, additional, Cruz-Muñoz, Mario E., additional, Ruíz-García, Matilde, additional, Freeze, Hudson H., additional, Mora-Montes, Héctor M., additional, Alaez-Verson, Carmen, additional, and Martínez-Duncker, Iván, additional
- Published
- 2021
- Full Text
- View/download PDF
3. ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele
- Author
-
González-Domínguez, Carlos Alberto, primary, Fiesco-Roa, Moisés O., additional, Gómez-Carmona, Samuel, additional, Kleinert-Altamirano, Anke Paula Ingrid, additional, He, Miao, additional, Daniel, Earnest James Paul, additional, Raymond, Kimiyo M., additional, Abreu-González, Melania, additional, Manrique-Hernández, Sandra, additional, González-Jaimes, Ana, additional, Salinas-Marín, Roberta, additional, Molina-Garay, Carolina, additional, Carrillo-Sánchez, Karol, additional, Flores-Lagunes, Luis Leonardo, additional, Jiménez-Olivares, Marco, additional, Muñoz-Rivas, Anallely, additional, Cruz-Muñoz, Mario E., additional, Ruíz-García, Matilde, additional, Freeze, Hudson H., additional, Mora-Montes, Héctor M., additional, Alaez-Verson, Carmen, additional, and Martínez-Duncker, Iván, additional
- Published
- 2021
- Full Text
- View/download PDF
4. Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model
- Author
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Alata, Milvia, primary, González-Vega, Arturo, additional, Piazza, Valeria, additional, Kleinert-Altamirano, Anke, additional, Cortes, Carmen, additional, Ahumada-Juárez, Juan C., additional, Eguibar, Jose R., additional, López-Juárez, Alejandra, additional, and Hernandez, Victor H., additional
- Published
- 2021
- Full Text
- View/download PDF
5. Cover Image, Volume 529, Issue 4
- Author
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Lopez‐Juarez, Alejandra, primary, Gonzalez‐Vega, Arturo, additional, Kleinert‐Altamirano, Anke, additional, Piazza, Valeria, additional, Garduno‐Robles, Angeles, additional, Alata, Milvia, additional, Villaseñor‐Mora, Carlos, additional, Eguibar, Jose R., additional, Cortes, Carmen, additional, Padierna, Luis Carlos, additional, and Hernandez, Victor H., additional
- Published
- 2021
- Full Text
- View/download PDF
6. Auditory impairment in H‐ABC tubulinopathy
- Author
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Lopez‐Juarez, Alejandra, primary, Gonzalez‐Vega, Arturo, additional, Kleinert‐Altamirano, Anke, additional, Piazza, Valeria, additional, Garduno‐Robles, Angeles, additional, Alata, Milvia, additional, Villaseñor‐Mora, Carlos, additional, Eguibar, Jose R., additional, Cortes, Carmen, additional, Padierna, Luis Carlos, additional, and Hernandez, Victor H., additional
- Published
- 2020
- Full Text
- View/download PDF
7. Auditory impairment in H‐ABC tubulinopathy.
- Author
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Lopez‐Juarez, Alejandra, Gonzalez‐Vega, Arturo, Kleinert‐Altamirano, Anke, Piazza, Valeria, Garduno‐Robles, Angeles, Alata, Milvia, Villaseñor‐Mora, Carlos, Eguibar, Jose R., Cortes, Carmen, Padierna, Luis Carlos, and Hernandez, Victor H.
- Abstract
Hypomyelination with atrophy of the basal ganglia and cerebellum (H‐ABC) is a neurodegenerative disease due to mutations in TUBB4A. Patients suffer from extrapyramidal movements, spasticity, ataxia, and cognitive deficits. Magnetic resonance imaging features are hypomyelination and atrophy of the striatum and cerebellum. A correlation between the mutations and their cellular, tissue and organic effects is largely missing. The effects of these mutations on sensory functions have not been described so far. We have previously reported a rat carrying a TUBB4A (A302T) mutation and sharing most of the clinical and radiological signs with H‐ABC patients. Here, for the first time, we did a comparative study of the hearing function in an H‐ABC patient and in this mutant model. By analyzing hearing function, we found that there are no significant differences in the auditory brainstem response (ABR) thresholds between mutant rats and WT controls. Nevertheless, ABRs show longer latencies in central waves (II–IV) that in some cases disappear when compared to WT. The patient also shows abnormal AEPs presenting only Waves I and II. Distortion product of otoacoustic emissions and immunohistochemistry in the rat show that the peripheral hearing function and morphology of the organ of Corti are normal. We conclude that the tubulin mutation severely impairs the central hearing pathway most probably by progressive central white matter degeneration. Hearing function might be affected in a significant fraction of patients with H‐ABC; therefore, screening for auditory function should be done on patients with tubulinopathies to evaluate hearing support therapies. [ABSTRACT FROM AUTHOR]
- Published
- 2021
- Full Text
- View/download PDF
8. Aplicación de la escala BARS en niños con ataxia en un centro de rehabilitación infantil en Chiapas.
- Author
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Guadalupe Perdomo-Rebollo, Flor and Ingrid Kleinert-Altamirano, Anke Paula
- Abstract
Background: Ataxias are an heterogeneous group of diseases with different etiologies. Scales are used to understand better its natural history and evaluate properly drug efficacy in clinical trials. SARA and ICARS scales have been the most studied and validated so far. BARS scale is based on a modified form of the ICARS scale and is valid, reliable and sufficiently fast for clinical purposes. Methods: Cross-sectional, descriptive and correlational study. Kruskall-Wallis test was used. We administered BARS to children from 4 to 18 years of age, with ataxic syndrome, without cognitive impairment, in active status, from February, 2007 to September, 2014, at the CRIT (Centro de Rehabilitación Infantil Teletón) from Chiapas, Mexico. Results: 14 children were included. The main BARS score was 17.9/30; 4H syndrome with the worst score was 27.6/30; ataxia telangiectasia 15.6/30; ataxic cerebral palsy 12/30; and others 16.1/30. Kruskall-Wallis test did not show a significant statistically difference when comparing the etiology with BARS score (p = 0.068). Conclusions: BARS items were an easy way to assess ataxic clinic in children; worse condition was found in neurodegenerative ataxias and better results in ataxic cerebral palsy. [ABSTRACT FROM AUTHOR]
- Published
- 2017
9. Encefalopatía de Wernicke y criterios de Caine Informe de seis casos.
- Author
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Kleinert-Altamirano, Anke Paula Ingrid and Juárez-Jiménez, Humberto
- Subjects
- *
WERNICKE'S encephalopathy , *VITAMIN B1 deficiency , *ALCOHOLISM , *PARENTERAL feeding , *ATAXIA , *DISEASE susceptibility - Abstract
Background: Wernicke's encephalopathy is an acute and reversible neurologic disorder due to deficiency of thiamin. Chronic alcoholism was the main cause in the past; currently, there are many other situations which favour this condition: prolonged intravenous feeding, hyperemesis gravidarum, anorexia nervosa, regional enteritis, malabsorption syndrome, hemodialysis, peritoneal dialysis, and abdominal surgery. Clinical cases: we report six patients, three male and three female, who had in common total parenteral nutrition over two months, secondary to abdominal surgery complications and restriction to enteral nutrition. Clinical manifestations were drowsiness, psychomotor hyperactivity, ophthalmoplegia with bilateral abduction impairment, horizontal nystagmus; three patients with ataxia and appendicular dysmetria. Magnetic resonance imaging showed abnormal T2 hyperintensity of the superior colliculus, periaqueductal gray matter, mammillary bodies and dorsomedial nucleus of the thalamus, as well as abnormal T1 hyperintensity in both lenticular nucleus from manganese deposits due to total parenteral nutrition. Conclusions: the classical triad is global confusional state, ocular abnormalities and ataxia. However, using the Caine criteria, the diagnosis could be faster in susceptible patients without previous alcoholism. [ABSTRACT FROM AUTHOR]
- Published
- 2014
10. Qualitative impact of cognitive impairment on daily life activities of patients with recently diagnosed multiple sclerosis.
- Author
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Luis Jiménez-López, José, Paula Ingrid Kleinert-Altamirano, Anke, MarÃa RodrÃguez-Galindo, Dulce, and Enrique Molina-Carrión, Luis
- Abstract
Objective: to know the qualitative impact of cognitive impairment on daily life activities of patients with recently diagnosed multiple sclerosis (MS). Material and methods: patients with MS consecutively diagnosed in the previous six months underwent a neuropsychological test (Programa Integrado de Exploración Neuropsicológica - Test Barcelona) to measure their cognitive function. The daily life activities were assessed using the World Health Organization Disability Assessment Schedule II (WHODAS-II). Associations between impaired cognitive function and daily life activities affected were analyzed using the exact Fisher´s test. Statistical significance was defined as p<0.05. Results: 17 patients were enrolled, 10 females and 7 males. 76% were employed. All of them scored cognitive function under normal percentile of the assessed areas with the exception of some corresponding to language. Only some praxis related functions showed association of statistical significance with mild difficult to carry on well the most important tasks in job. Conclusions: all the patients in this sample with recently diagnosed MS showed subtle cognitive impairment that affected mildly their performance in job. The qualitative assessment, instead of quantitative, of cognitive function in early stage o MS may allow to identify target functions to rehabilitate, with the purpose of delay early retirement of job. These preliminary results need to be confirmed with larger samples using control group. [ABSTRACT FROM AUTHOR]
- Published
- 2012
11. Impacto cualitativo de fallas cognitivas sobre las actividades de la vida diaria en pacientes con esclerosis múltiple de reciente diagnóstico.
- Author
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Luis Jiménez-López, José, Paula Ingrid Kleinert-Altamirano, Anke, María Rodríguez-Galindo, Dulce, and Enrique Molina-Carrión, Luis
- Subjects
- *
COGNITION , *FISHER exact test , *NEUROPSYCHOLOGICAL tests , *MULTIPLE sclerosis , *ACTIVITIES of daily living - Abstract
Objective: to know the qualitative impact of cognitive impairment on daily life activities of patients with recently diagnosed multiple sclerosis (MS). Material and methods: patients with MS consecutively diagnosed in the previous six months underwent a neuropsychological test (Programa Integrado de Exploración Neuropsicológica - Test Barcelona) to measure their cognitive function. The daily life activities were assessed using the World Health Organization Disability Assessment Schedule II (WHODAS-II). Associations between impaired cognitive function and daily life activities affected were analyzed using the exact Fisher´s test. Statistical significance was defined as p<0.05. Results: 17 patients were enrolled, 10 females and 7 males. 76% were employed. All of them scored cognitive function under normal percentile of the assessed areas with the exception of some corresponding to language. Only some praxis related functions showed association of statistical significance with mild difficult to carry on well the most important tasks in job. Conclusions: all the patients in this sample with recently diagnosed MS showed subtle cognitive impairment that affected mildly their performance in job. The qualitative assessment, instead of quantitative, of cognitive function in early stage o MS may allow to identify target functions to rehabilitate, with the purpose of delay early retirement of job. These preliminary results need to be confirmed with larger samples using control group. [ABSTRACT FROM AUTHOR]
- Published
- 2012
12. [Application of BARS scale in children with ataxia in a child rehabilitation center in Chiapas, Mexico].
- Author
-
Perdomo-Rebollo FG and Kleinert-Altamirano API
- Subjects
- Adolescent, Ataxia etiology, Ataxia rehabilitation, Child, Child, Preschool, Cross-Sectional Studies, Female, Humans, Male, Mexico, Prospective Studies, Ataxia diagnosis, Severity of Illness Index
- Abstract
Background: Ataxias are an heterogeneous group of diseases with different etiologies. Scales are used to understand better its natural history and evaluate properly drug efficacy in clinical trials. SARA and ICARS scales have been the most studied and validated so far. BARS scale is based on a modified form of the ICARS scale and is valid, reliable and sufficiently fast for clinical purposes., Methods: Cross-sectional, descriptive and correlational study. Kruskall-Wallis test was used. We administered BARS to children from 4 to 18 years of age, with ataxic syndrome, without cognitive impairment, in active status, from February, 2007 to September, 2014, at the CRIT (Centro de Rehabilitación Infantil Teletón) from Chiapas, Mexico., Results: 14 children were included. The main BARS score was 17.9/30; 4H syndrome with the worst score was 27.6/30; ataxia telangiectasia 15.6/30; ataxic cerebral palsy 12/30; and others 16.1/30. Kruskall-Wallis test did not show a significant statistically difference when comparing the etiology with BARS score (p = 0.068)., Conclusions: BARS items were an easy way to assess ataxic clinic in children; worse condition was found in neurodegenerative ataxias and better results in ataxic cerebral palsy.
- Published
- 2017
13. [Wernicke's encephalopathy and Caine criteria. Report of six cases].
- Author
-
Kleinert-Altamirano AP and Juárez-Jiménez H
- Subjects
- Aged, Female, Humans, Male, Middle Aged, Wernicke Encephalopathy etiology, Parenteral Nutrition adverse effects, Wernicke Encephalopathy diagnosis
- Abstract
Background: Wernicke's encephalopathy is an acute and reversible neurologic disorder due to deficiency of thiamin. Chronic alcoholism was the main cause in the past; currently, there are many other situations which favour this condition: prolonged intravenous feeding, hyperemesis gravidarum, anorexia nervosa, regional enteritis, malabsorption syndrome, hemodialysis, peritoneal dialysis, and abdominal surgery., Clinical Case: We report six patients, three male and three female, who had in common total parenteral nutrition over two months, secondary to abdominal surgery complications and restriction to enteral nutrition. Clinical manifestations were drowsiness, psychomotor hyperactivity, ophthalmoplegia with bilateral abduction impairment, horizontal nystagmus; three patients with ataxia and appendicular dysmetria. Magnetic resonance imaging showed abnormal T2 hyperintensity of the superior colliculus, periaqueductal gray matter, mammillary bodies and dorsomedial nucleus of the thalamus, as well as abnormal T1 hyperintensity in both lenticular nucleus from manganese deposits due to total parenteral nutrition., Conclusions: The classical triad is global confusional state, ocular abnormalities and ataxia. However, using the Caine criteria, the diagnosis could be faster in susceptible patients without previous alcoholism.
- Published
- 2014
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