RESUMEN
This study was conducted to determine whether there is a genotype/phenotype correlation between aspects of cognitive, neurologic, and ovarian outcome in patients with galactosemia and the Q188R mutation of the galactose-1-phosphate uridyltransferase gene. The results showed that the Q188R mutation was found in 72% of alleles: 38 patients were homozygous and 21 were heterozygous for Q188R; eight patients did not have the mutation. The mean Broad Cognitive score for the group homozygous for Q188R was 75 (SD = 16), which was not statistically different from the outcome for the heterozygous group (mean score, 67; SD = 25) or the negative group (mean score, 88; SD = 21). Tremor, ataxia, and dysmetria were found in 12 subjects, and there was no association with Q188R status. Similarly, there was no association of this mutation with the development of primary amenorrhea (8 subjects) versus secondary amenorrhea (found in 14 women). Our findings suggests that the variability of outcome for patients with classic galactosemia cannot be explained by Q188R status alone, at least with regard to cognitive functioning, presence of neurologic symptoms, and timing of the onset of ovarian failure.
Asunto(s)
Cognición , Galactosemias/genética , Trastornos del Movimiento/etiología , Mutación , Insuficiencia Ovárica Primaria/etiología , UTP-Hexosa-1-Fosfato Uridililtransferasa/genética , Adolescente , Adulto , Niño , Femenino , Galactosemias/complicaciones , Galactosemias/psicología , Homocigoto , Humanos , Masculino , Trastornos del Movimiento/genética , Insuficiencia Ovárica Primaria/genéticaRESUMEN
Each year increasing numbers of Americans travel to countries where the risk of acquiring malaria is considerable. Appropriate advice from family physicians about malaria prophylaxis is important to prevent malaria in American travelers. All travelers to malarious areas should receive chloroquine prophylaxis. Physicians should consider the diagnosis of malaria when fever develops in travelers returning from malarious areas.
Asunto(s)
Antimaláricos/uso terapéutico , Malaria/prevención & control , Viaje , África , Asia , Cloroquina/farmacología , Cloroquina/uso terapéutico , Combinación de Medicamentos/uso terapéutico , Resistencia a Medicamentos , Femenino , Humanos , Recién Nacido , Lactancia/efectos de los fármacos , Plasmodium falciparum/efectos de los fármacos , Embarazo , Pirimetamina/uso terapéutico , Riesgo , América del Sur , Sulfadoxina/uso terapéutico , Estados Unidos/etnologíaRESUMEN
Major advances have been made against Wilms' tumor as a result of treatment methods developed by single institutions that then have been confirmed and extended by national cooperating groups. Better survival rates have been achieved, and therapy has been refined so that treatment can be reduced in early stage disease without jeopardizing tumor control. This results in fewer short- and long-term complications, an especially important consideration in children. Their organs and tissues are vulnerable to anti-mitotic treatments such as chemo- and radiotherapy, that can produce disabling if not lethal dysfunctions. This progress has been the result of the cooperative efforts by multiple specialists, and provides evidence of the value of such integrated studies. They have changed the outlook from a 90% death rate in the early years of this century to the 90% survival rate now possible with modern management.
RESUMEN
Optimal influenza immunization of individuals with malignancy and other immunodeficient states requires and understanding of responses to currently recommended regimens. Children with acute lymphocytic leukemia and other malignancies between three and 17 years of age were immunized with bivalent influenza vaccine containing A/New Jersey/76 and A/Victoria/75. Folowing a two-dose immunization schedule, only 37% (25468) on cancer chemotherapy seroconverted to a hemagglutination inhibition titer greater than or equal to 20 for A/NJ/76; the seroconversion rate in those not on chemotherapy was 92% (68/74, P less than 0.001). The immune response to the A/Vic/75 antigen was also related to a history of recent chemotherapy. There was no correlation between the immune response and the peripheral white blood cell count except at counts less than or equal to 1,000. The optimum time to immunize children with malignancies is when they have been off chemotherapy for one month and have peripheral white blood counts greater than 1,000.