L. Heredero | UFPA - Federal University of Pará (original) (raw)
Papers by L. Heredero
Revista Cubana de Pediatría, 1989
neurogenetics, 2002
We studied a Cuban family with presenile dementia (autosomal dominant) consisting of 281 members ... more We studied a Cuban family with presenile dementia (autosomal dominant) consisting of 281 members within six generations, the proband descended from a Spanish founder. Mean age at onset was 59 years of age. Memory impairment was the main symptom in all patients, additionally, ischemic episodes were described in 4 (n=18) patients. Neuropathological examination of brain material (1 patient) revealed neuronal loss, amyloid plaques, and neurofibrillary tangles. Thirty DNA samples were genotyped (regions on chromosome 1, 3, 10, 12, 14, 17, 19, 20, and 21). A maximum Lod score of 3.79 at θ=0 was obtained for marker D14S43, located in a 9-cM interval in which all patients shared the same haplotype. Se-quencing of the PSEN1 gene revealed a heterozygous base substitution, C520A (exon 6), which is predicted to cause an amino acid change from leucine to methionine in the TMIII of the presenilin 1 protein. The mutation was found to co-segregate with the disease phenotype and the associated disease haplotype. The C→A change was not observed in 80 control chromosomes from the Cuban population. Leucine at position 174 is highly conserved among species and is identical in presenilin 1 and presenilin 2 proteins. We propose the L174 M mutation might lead to an abnormal N-terminal and probably C-terminal fragments and malfunction of the protein complex. In conclusion, we found a novel PSEN1 mutation in a large family with clinical and pathological diagnosis of early onset familial Alzheimer disease, which may be relevant for other Hispanic populations.
Journal of Medical Genetics, 1977
During a screening programme for abnormal haemoglobins in Habana, one case of Hb Porto Alegre was... more During a screening programme for abnormal haemoglobins in Habana, one case of Hb Porto Alegre was found in 23 000 cases analysed. The ability of this variant to polymerise in vitro and the absence of clinical features in the carriers have been confirmed. These observations are now explained by the findings of high levels of glutathione in the red cells of subjects heterozygous for Hb Porto Alegre: it is suggested that the increase of glutathione is responsible for the absence of in vivo polymerisation and accounts for the lack of clinical symptoms.
American journal of human genetics, 1995
Kjer type autosomal dominant optic atrophy was reported to have a prevalence of 1:50,000 and is t... more Kjer type autosomal dominant optic atrophy was reported to have a prevalence of 1:50,000 and is therefore the most common form of familial optic atrophy. Age at onset and chronic progressive course were used as subclassification criteria by Kjer, Jaeger, and Smith, stating that almost all cases manifested subacutely before 8 years of age. Typically, tritan color defects and small paracentral scotomas are found together with both variable reduction of visual acuity, of approximately 0.3/0.1, and a temporal pallor on fundoscopy. Pathologically the retinal ganglion cells are affected, resulting in a progressive degeneration of the optic nerve. 12 refs., 1 fig., 1 tab.
American Journal of Human Genetics, 1995
Se expone que la alfa-1-antitripsina es una proteina del suero humano cuya deficiencia ha sido re... more Se expone que la alfa-1-antitripsina es una proteina del suero humano cuya deficiencia ha sido relacionada a enfermedades pulmonares obstructivas cronicas y enfermedades hepaticas en la ninez. Es importante el estudio de la incidencia de los alelos responsables de esta deficiencia en Cuba, para lograr tecnicas que permitan una deteccion temprana de las personas deficientes y el consejo medico adecuado. En este trabajo analizamos 1 082 muestras de suero por medio de electroforesis acida en gel de almidon y se obtuvieron frecuencias fenotipicas de 3,23% para el fenotipo MZ, 2,31% para el MS, 1,01% para el SS y 0,55% para el ZZ.
Revista Cubana de Pediatría, 1993
Siguiendo los trabajos realizados por J. Fletcher y D.C Werts, se aplico una encuesta a 17 geneti... more Siguiendo los trabajos realizados por J. Fletcher y D.C Werts, se aplico una encuesta a 17 genetistas sobre situaciones conflictivas, desde el punto de vista etico, en la practica del asesoramiento genetico. Existio consenso en cuanto al respeto a la confidencialidad. La mayoria estuvo a favor del derecho del paciente a recibir informacion completa y al de la autonomia paterna (asesoramiento genetico no directivo). Prevalecio el criterio de que los pesquisajes par prevenir enfermedades deben ser indicados por las autoridades a todos los que lo requieran. En cuanto a la funcion del genetista en el futuro, el criterio mayoritario consistio en que los temas que mayores esfuerzos demandaran son la teratogenesis y la deteccion de heterocigoticos, seguidos de los pesquisajes para factores ambientales relacionados con la patogenia de enfermedad cronicas o laborables
Birth defects original article series, 1992
Revista Cubana de Pediatría, 1987
Il a ete diagnostique un cas de phenylcetonurie classique et un cas d'hyperphenylalaninemie m... more Il a ete diagnostique un cas de phenylcetonurie classique et un cas d'hyperphenylalaninemie moyenne, les 2 cas etant actuellement sous traitement
Spinocerebellar ataxia 2 (SCA2) is one form of the neurodegenerative autosomal dominant cerebella... more Spinocerebellar ataxia 2 (SCA2) is one form of the neurodegenerative autosomal dominant cerebellar ataxias and has been linked to chromosome 12q in 25 previously described and 13 new families from a founder collective of {ge}500 patients in Holguin, Cuba. Although SCA2 in most patients cannot be distinguished from other spinocerebellar ataxias by clinical criteria, in some patients it exhibits a particular phenotype with early neuropathy/late slow saccades and late myoclonus. Autopsy in 11 patients demonstrated olivo-ponto-cerebellar atrophy with a selective sparing of the dentate nucleus. Complete allelic association within the Holguin population was established with the microsatellite D12S105, and the candidate region was determined to be within a 6-cM region distal to the marker D12S84, contrasting previous reports by Pulst and Lopes-Cendes and according to preliminary data between D12S84 and D12S1329. 17 refs., 1 fig., 1 tab.
Genetic Testing, 2003
The study was conducted in a large Cuban family with early-onset familial Alzheimer's dis... more The study was conducted in a large Cuban family with early-onset familial Alzheimer's disease (AD). Fifty-six first-degree relatives of familial cases with AD were interviewed concerning their clinical and genetic knowledge about AD and their attitudes toward the possible use of presymptomatic genetic testing of AD. The individuals had only limited knowledge about their personal risk of developing AD. All 56 family members would use presymptomatic testing to know their own risk of AD. Confronted with a hypothetical reproductive choice, 50% would choose not to have children if they themselves had the mutation. A positive prenatal test would lead 48.2% of the participants to have an abortion, and 19.7% would continue the pregnancy regardless of the positive test result.
Clinica Chimica Acta, 1976
A new form of the solubility test for the detection of Hemoglobin S is described. Glass ampoules ... more A new form of the solubility test for the detection of Hemoglobin S is described. Glass ampoules containing one ml of the test solution ready for use are employed; they can be stored for more than one year at 4 degrees C. 3000 blood samples were analyzed by the solubility test and electrophoresis. The comparison between the two methods showed that the solubility test is highly satisfactory.
American journal of human genetics, 1995
... ASTRID LUNKES,1 ULRICHHARTUNG,1 CARLOS MAGARIIO,2 MIGUEL RODRIGUEZ,3 ALFREDO PALMERO,3 LIDIA ... more ... ASTRID LUNKES,1 ULRICHHARTUNG,1 CARLOS MAGARIIO,2 MIGUEL RODRIGUEZ,3 ALFREDO PALMERO,3 LIDIA RODRIGUEZ,2 Luis HEREDERO,2 JEAN WEISSENBACH,4 JAMES WEBER,5 AND GEORG AUBURGER1 Department of Neurology, University Hospital ...
The Lancet, 1991
this new design, the additional resources required will be available. We do not believe that appl... more this new design, the additional resources required will be available. We do not believe that application of the new design will always be advisable when standard randomised controlled trials are unsuitable and would encourage further research into alternative trial design.
American journal of human genetics, 1995
Prenatal Diagnosis, 1994
A nationwide programme for the prevention of sickle cell (SS and SC) disorders was initiated in C... more A nationwide programme for the prevention of sickle cell (SS and SC) disorders was initiated in Cuba in 1983. Couples at risk were identified by screening pregnant women and the partners of those who carry an abnormal haemoglobin, followed by genetic counselling and the offer of prenatal diagnosis. Prenatal diagnosis was performed in one laboratory, which had camed out 1068 prenatal tests for Hb SS and SC disorders by the end of 1992. The centralization of the service has permitted rapid identification and resolution of problems.
Revista Cubana de Pediatría, 1989
neurogenetics, 2002
We studied a Cuban family with presenile dementia (autosomal dominant) consisting of 281 members ... more We studied a Cuban family with presenile dementia (autosomal dominant) consisting of 281 members within six generations, the proband descended from a Spanish founder. Mean age at onset was 59 years of age. Memory impairment was the main symptom in all patients, additionally, ischemic episodes were described in 4 (n=18) patients. Neuropathological examination of brain material (1 patient) revealed neuronal loss, amyloid plaques, and neurofibrillary tangles. Thirty DNA samples were genotyped (regions on chromosome 1, 3, 10, 12, 14, 17, 19, 20, and 21). A maximum Lod score of 3.79 at θ=0 was obtained for marker D14S43, located in a 9-cM interval in which all patients shared the same haplotype. Se-quencing of the PSEN1 gene revealed a heterozygous base substitution, C520A (exon 6), which is predicted to cause an amino acid change from leucine to methionine in the TMIII of the presenilin 1 protein. The mutation was found to co-segregate with the disease phenotype and the associated disease haplotype. The C→A change was not observed in 80 control chromosomes from the Cuban population. Leucine at position 174 is highly conserved among species and is identical in presenilin 1 and presenilin 2 proteins. We propose the L174 M mutation might lead to an abnormal N-terminal and probably C-terminal fragments and malfunction of the protein complex. In conclusion, we found a novel PSEN1 mutation in a large family with clinical and pathological diagnosis of early onset familial Alzheimer disease, which may be relevant for other Hispanic populations.
Journal of Medical Genetics, 1977
During a screening programme for abnormal haemoglobins in Habana, one case of Hb Porto Alegre was... more During a screening programme for abnormal haemoglobins in Habana, one case of Hb Porto Alegre was found in 23 000 cases analysed. The ability of this variant to polymerise in vitro and the absence of clinical features in the carriers have been confirmed. These observations are now explained by the findings of high levels of glutathione in the red cells of subjects heterozygous for Hb Porto Alegre: it is suggested that the increase of glutathione is responsible for the absence of in vivo polymerisation and accounts for the lack of clinical symptoms.
American journal of human genetics, 1995
Kjer type autosomal dominant optic atrophy was reported to have a prevalence of 1:50,000 and is t... more Kjer type autosomal dominant optic atrophy was reported to have a prevalence of 1:50,000 and is therefore the most common form of familial optic atrophy. Age at onset and chronic progressive course were used as subclassification criteria by Kjer, Jaeger, and Smith, stating that almost all cases manifested subacutely before 8 years of age. Typically, tritan color defects and small paracentral scotomas are found together with both variable reduction of visual acuity, of approximately 0.3/0.1, and a temporal pallor on fundoscopy. Pathologically the retinal ganglion cells are affected, resulting in a progressive degeneration of the optic nerve. 12 refs., 1 fig., 1 tab.
American Journal of Human Genetics, 1995
Se expone que la alfa-1-antitripsina es una proteina del suero humano cuya deficiencia ha sido re... more Se expone que la alfa-1-antitripsina es una proteina del suero humano cuya deficiencia ha sido relacionada a enfermedades pulmonares obstructivas cronicas y enfermedades hepaticas en la ninez. Es importante el estudio de la incidencia de los alelos responsables de esta deficiencia en Cuba, para lograr tecnicas que permitan una deteccion temprana de las personas deficientes y el consejo medico adecuado. En este trabajo analizamos 1 082 muestras de suero por medio de electroforesis acida en gel de almidon y se obtuvieron frecuencias fenotipicas de 3,23% para el fenotipo MZ, 2,31% para el MS, 1,01% para el SS y 0,55% para el ZZ.
Revista Cubana de Pediatría, 1993
Siguiendo los trabajos realizados por J. Fletcher y D.C Werts, se aplico una encuesta a 17 geneti... more Siguiendo los trabajos realizados por J. Fletcher y D.C Werts, se aplico una encuesta a 17 genetistas sobre situaciones conflictivas, desde el punto de vista etico, en la practica del asesoramiento genetico. Existio consenso en cuanto al respeto a la confidencialidad. La mayoria estuvo a favor del derecho del paciente a recibir informacion completa y al de la autonomia paterna (asesoramiento genetico no directivo). Prevalecio el criterio de que los pesquisajes par prevenir enfermedades deben ser indicados por las autoridades a todos los que lo requieran. En cuanto a la funcion del genetista en el futuro, el criterio mayoritario consistio en que los temas que mayores esfuerzos demandaran son la teratogenesis y la deteccion de heterocigoticos, seguidos de los pesquisajes para factores ambientales relacionados con la patogenia de enfermedad cronicas o laborables
Birth defects original article series, 1992
Revista Cubana de Pediatría, 1987
Il a ete diagnostique un cas de phenylcetonurie classique et un cas d'hyperphenylalaninemie m... more Il a ete diagnostique un cas de phenylcetonurie classique et un cas d'hyperphenylalaninemie moyenne, les 2 cas etant actuellement sous traitement
Spinocerebellar ataxia 2 (SCA2) is one form of the neurodegenerative autosomal dominant cerebella... more Spinocerebellar ataxia 2 (SCA2) is one form of the neurodegenerative autosomal dominant cerebellar ataxias and has been linked to chromosome 12q in 25 previously described and 13 new families from a founder collective of {ge}500 patients in Holguin, Cuba. Although SCA2 in most patients cannot be distinguished from other spinocerebellar ataxias by clinical criteria, in some patients it exhibits a particular phenotype with early neuropathy/late slow saccades and late myoclonus. Autopsy in 11 patients demonstrated olivo-ponto-cerebellar atrophy with a selective sparing of the dentate nucleus. Complete allelic association within the Holguin population was established with the microsatellite D12S105, and the candidate region was determined to be within a 6-cM region distal to the marker D12S84, contrasting previous reports by Pulst and Lopes-Cendes and according to preliminary data between D12S84 and D12S1329. 17 refs., 1 fig., 1 tab.
Genetic Testing, 2003
The study was conducted in a large Cuban family with early-onset familial Alzheimer's dis... more The study was conducted in a large Cuban family with early-onset familial Alzheimer's disease (AD). Fifty-six first-degree relatives of familial cases with AD were interviewed concerning their clinical and genetic knowledge about AD and their attitudes toward the possible use of presymptomatic genetic testing of AD. The individuals had only limited knowledge about their personal risk of developing AD. All 56 family members would use presymptomatic testing to know their own risk of AD. Confronted with a hypothetical reproductive choice, 50% would choose not to have children if they themselves had the mutation. A positive prenatal test would lead 48.2% of the participants to have an abortion, and 19.7% would continue the pregnancy regardless of the positive test result.
Clinica Chimica Acta, 1976
A new form of the solubility test for the detection of Hemoglobin S is described. Glass ampoules ... more A new form of the solubility test for the detection of Hemoglobin S is described. Glass ampoules containing one ml of the test solution ready for use are employed; they can be stored for more than one year at 4 degrees C. 3000 blood samples were analyzed by the solubility test and electrophoresis. The comparison between the two methods showed that the solubility test is highly satisfactory.
American journal of human genetics, 1995
... ASTRID LUNKES,1 ULRICHHARTUNG,1 CARLOS MAGARIIO,2 MIGUEL RODRIGUEZ,3 ALFREDO PALMERO,3 LIDIA ... more ... ASTRID LUNKES,1 ULRICHHARTUNG,1 CARLOS MAGARIIO,2 MIGUEL RODRIGUEZ,3 ALFREDO PALMERO,3 LIDIA RODRIGUEZ,2 Luis HEREDERO,2 JEAN WEISSENBACH,4 JAMES WEBER,5 AND GEORG AUBURGER1 Department of Neurology, University Hospital ...
The Lancet, 1991
this new design, the additional resources required will be available. We do not believe that appl... more this new design, the additional resources required will be available. We do not believe that application of the new design will always be advisable when standard randomised controlled trials are unsuitable and would encourage further research into alternative trial design.
American journal of human genetics, 1995
Prenatal Diagnosis, 1994
A nationwide programme for the prevention of sickle cell (SS and SC) disorders was initiated in C... more A nationwide programme for the prevention of sickle cell (SS and SC) disorders was initiated in Cuba in 1983. Couples at risk were identified by screening pregnant women and the partners of those who carry an abnormal haemoglobin, followed by genetic counselling and the offer of prenatal diagnosis. Prenatal diagnosis was performed in one laboratory, which had camed out 1068 prenatal tests for Hb SS and SC disorders by the end of 1992. The centralization of the service has permitted rapid identification and resolution of problems.