The inborn errors of metabolism have caught the imagination of physicians and scientists due to t... more The inborn errors of metabolism have caught the imagination of physicians and scientists due to their promise of insights into the mechanisms of both the pathogenesis of genetic disease and gene action itself. The etiologic agent of these disorders is the mutant gene. In this Symposium, attention is focused chiefly upon the mechanism by which the mutant gene produces clinical manifestations.
A one-year-old girl with a mosaicism for an extra chromosome 9 is reported. Clinical findings inc... more A one-year-old girl with a mosaicism for an extra chromosome 9 is reported. Clinical findings included severe growth and mental retardation, frequent respiratory infections, peculiar face, skeletal and craniofacial abnormalities, seizures, spasticity, cardiopulmonary, gastrointestinal and genitourinary alterations. These findings were compared to those of the 10 other previously reported cases of trisomy 9 mosaicism. This helps to define the most constant phenotypical characteristics and most frequent major malformations which occur in trisomy 9 mosaicism. It is noteworthy that the reported percentage of trisomic cells was different in lymphocytes and in fibroblasts in each case.
Family history of cancer and features of the Li-Fraumeni syndrome (LFS) were investigated in 42 p... more Family history of cancer and features of the Li-Fraumeni syndrome (LFS) were investigated in 42 patients with soft tissue sarcoma or osteosarcoma in a pediatric hospital in Mexico City, and compared with 42 non-cancer children. Six subjects with cancer were found among 204 first-degree relatives of cancer patients while there were none among 183 first-degree relatives of non-cancer children. In three families, the proband had two affected relatives, and the type of neoplasia as well as the age of onset suggested the clinical diagnosis of LFS. Our results show that 7.1% of our pediatric patients with soft tissue sarcoma or osteosarcoma may belong to LFS families. The authors encourage pediatric and adult oncologists to pay more attention to the history of cancer in nuclear families for eventual hereditary cancer syndrome identification and cancer prevention.
This paper shows the results of the dietary management of 9 children with phenylketonuria diagnos... more This paper shows the results of the dietary management of 9 children with phenylketonuria diagnosed at the Clinic for Inborn Errores of Metabolism of the Hospital del Niño-Instituto de Investigaciones Biomédicas UNAM. The age at which the diet was instituted was variable: in one case before the age of 8 weeks; in another one at 5 months and in the remainder after 10 months. The management is multidisciplinary and involves a geneticist, a pediatrician, a neurologist a psychologist, a nutritionist, and a social worker. In spite of the difficult control of the diet in some patients, in most cases satisfactory phenylalanine levels were maintained most of the time. The body growth and development have been normal. With regard to the mental development, the results support the importance of an early diagnosis since the case treated from the age of one month has shown normal development; the patient diagnosed at 5 months has had a low normal IQ and the rest, all diagnosed after 10 months o...
Revista de investigación clínica; organo del Hospital de Enfermedades de la Nutrición
Cystic fibrosis (CF) is an autosomal recessive disorder characterized by chronic pneumopathy, pan... more Cystic fibrosis (CF) is an autosomal recessive disorder characterized by chronic pneumopathy, pancreatic insufficiency, elevated sweat chloride levels and male infertility. It is caused by defects in the CF transmembrane conductance regulator (CFTR) gene, which encodes a protein that functions as a chloride channel. The identification of the CF-causing gene was a landmark in molecular medicine. Currently, over 1,300 disease-causing mutations have been reported to the Cystic fibrosis genetic analysis consortium. deltaF508 mutation is the most common CF allele, however a high heterogeneity of the CFTR mutations spectrum has been observed in populations, particularly in southern Europe and Latin America. Depending on the effect at the protein level, CFTR mutations can be divided in at least 5 classes. These mutations could cause totally (classes I-III) or partially (classes IV and V) loss of the protein function. The molecular defects resulting from different mutations in CFTR partiall...
We report on a Mexican girl who developed cerebellar ataxia at age 3 years and pancytopenia at ag... more We report on a Mexican girl who developed cerebellar ataxia at age 3 years and pancytopenia at age 13 years. Cerebral computed tomography scan and magnetic resonance imaging showed evidence of severe cerebellar atrophy. Telangiectasias were not present; immunoglobulins and alpha-fetoprotein levels were normal. Cytogenetic studies showed no evidence of spontaneous chromosome aberrations, a normal rate of diepoxybutane (DEB) and mitomycin C (MMC)-induced chromosome aberrations, but an increased response to bleomycin. The phenotype support the diagnosis of ataxia-pancytopenia syndrome, although monosomy of chromosome 7 was not found in bone marrow. The cytogenetic studies suggest that this may be a chromosomal instability disorder.
The inborn errors of metabolism have caught the imagination of physicians and scientists due to t... more The inborn errors of metabolism have caught the imagination of physicians and scientists due to their promise of insights into the mechanisms of both the pathogenesis of genetic disease and gene action itself. The etiologic agent of these disorders is the mutant gene. In this Symposium, attention is focused chiefly upon the mechanism by which the mutant gene produces clinical manifestations.
A one-year-old girl with a mosaicism for an extra chromosome 9 is reported. Clinical findings inc... more A one-year-old girl with a mosaicism for an extra chromosome 9 is reported. Clinical findings included severe growth and mental retardation, frequent respiratory infections, peculiar face, skeletal and craniofacial abnormalities, seizures, spasticity, cardiopulmonary, gastrointestinal and genitourinary alterations. These findings were compared to those of the 10 other previously reported cases of trisomy 9 mosaicism. This helps to define the most constant phenotypical characteristics and most frequent major malformations which occur in trisomy 9 mosaicism. It is noteworthy that the reported percentage of trisomic cells was different in lymphocytes and in fibroblasts in each case.
Family history of cancer and features of the Li-Fraumeni syndrome (LFS) were investigated in 42 p... more Family history of cancer and features of the Li-Fraumeni syndrome (LFS) were investigated in 42 patients with soft tissue sarcoma or osteosarcoma in a pediatric hospital in Mexico City, and compared with 42 non-cancer children. Six subjects with cancer were found among 204 first-degree relatives of cancer patients while there were none among 183 first-degree relatives of non-cancer children. In three families, the proband had two affected relatives, and the type of neoplasia as well as the age of onset suggested the clinical diagnosis of LFS. Our results show that 7.1% of our pediatric patients with soft tissue sarcoma or osteosarcoma may belong to LFS families. The authors encourage pediatric and adult oncologists to pay more attention to the history of cancer in nuclear families for eventual hereditary cancer syndrome identification and cancer prevention.
This paper shows the results of the dietary management of 9 children with phenylketonuria diagnos... more This paper shows the results of the dietary management of 9 children with phenylketonuria diagnosed at the Clinic for Inborn Errores of Metabolism of the Hospital del Niño-Instituto de Investigaciones Biomédicas UNAM. The age at which the diet was instituted was variable: in one case before the age of 8 weeks; in another one at 5 months and in the remainder after 10 months. The management is multidisciplinary and involves a geneticist, a pediatrician, a neurologist a psychologist, a nutritionist, and a social worker. In spite of the difficult control of the diet in some patients, in most cases satisfactory phenylalanine levels were maintained most of the time. The body growth and development have been normal. With regard to the mental development, the results support the importance of an early diagnosis since the case treated from the age of one month has shown normal development; the patient diagnosed at 5 months has had a low normal IQ and the rest, all diagnosed after 10 months o...
Revista de investigación clínica; organo del Hospital de Enfermedades de la Nutrición
Cystic fibrosis (CF) is an autosomal recessive disorder characterized by chronic pneumopathy, pan... more Cystic fibrosis (CF) is an autosomal recessive disorder characterized by chronic pneumopathy, pancreatic insufficiency, elevated sweat chloride levels and male infertility. It is caused by defects in the CF transmembrane conductance regulator (CFTR) gene, which encodes a protein that functions as a chloride channel. The identification of the CF-causing gene was a landmark in molecular medicine. Currently, over 1,300 disease-causing mutations have been reported to the Cystic fibrosis genetic analysis consortium. deltaF508 mutation is the most common CF allele, however a high heterogeneity of the CFTR mutations spectrum has been observed in populations, particularly in southern Europe and Latin America. Depending on the effect at the protein level, CFTR mutations can be divided in at least 5 classes. These mutations could cause totally (classes I-III) or partially (classes IV and V) loss of the protein function. The molecular defects resulting from different mutations in CFTR partiall...
We report on a Mexican girl who developed cerebellar ataxia at age 3 years and pancytopenia at ag... more We report on a Mexican girl who developed cerebellar ataxia at age 3 years and pancytopenia at age 13 years. Cerebral computed tomography scan and magnetic resonance imaging showed evidence of severe cerebellar atrophy. Telangiectasias were not present; immunoglobulins and alpha-fetoprotein levels were normal. Cytogenetic studies showed no evidence of spontaneous chromosome aberrations, a normal rate of diepoxybutane (DEB) and mitomycin C (MMC)-induced chromosome aberrations, but an increased response to bleomycin. The phenotype support the diagnosis of ataxia-pancytopenia syndrome, although monosomy of chromosome 7 was not found in bone marrow. The cytogenetic studies suggest that this may be a chromosomal instability disorder.
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