RESUMEN
OBJECTIVE: This multicenter, parallel-group, randomized trial examined the effects of an animal-assisted intervention on the stress, anxiety, and health-related quality of life for children diagnosed with cancer and their parents. METHOD: Newly diagnosed patients, aged 3 to 17 years (n = 106), were randomized to receive either standard care plus regular visits from a therapy dog (intervention group), or standard care only (control group). Data were collected at set points over 4 months of the child's treatment. Measures included the State-Trait Anxiety Inventory™, Pediatric Quality of Life Inventory, Pediatric Inventory for Parents, and child blood pressure and heart rate. All instruments were completed by the child and/or his/her parent(s). RESULTS: Children in both groups experienced a significant reduction in state anxiety ( P < .001). Parents in the intervention group showed significantly decreased parenting stress ( P = .008), with no changes in stress among parents in the control group. However, no significant differences between groups over time on any measures were observed. CONCLUSIONS: Animal-assisted interventions may provide certain benefits for parents and families during the initial stages of pediatric cancer treatment.
Asunto(s)
Terapia Asistida por Animales/métodos , Ansiedad/terapia , Neoplasias/psicología , Padres/psicología , Pacientes/psicología , Calidad de Vida/psicología , Estrés Psicológico/terapia , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , MasculinoRESUMEN
Hb Lepore is the hybrid hemoglobin (Hb) composed of two alpha-globin chains and two deltabeta hybrid chains and is associated with the clinical findings of thalassemia minor in its heterozygous form. Hb Lepore can be found in many ethnic groups, commonly in southern European countries, but rarely in African Americans. The first Hb Lepore case in an African-American individual was named Hb Lepore-The Bronx (Hb Lepore-Boston). Hb Lepore-Washington-Boston and Hb Lepore-Baltimore with a breakpoint of (delta50Ser/beta86Ala) were later reported. In this paper, we describe an Hb Lepore-Baltimore (delta68Leu/beta84Thr) deltabeta-fusion gene with a different breakpoint detected for the first time in an African-American female. We have used state-of-the-art technology, combining protein- and DNA-based methods, in the analysis of the hybrid hemoglobin and discuss its molecular characteristics.
Asunto(s)
Negro o Afroamericano/genética , Variación Genética/genética , Hemoglobinas Anormales/análisis , Hemoglobinas Anormales/metabolismo , Adulto , Secuencia de Bases , Femenino , Hemoglobinas Anormales/genética , Humanos , Datos de Secuencia MolecularRESUMEN
Neonatal screening for hemoglobinopathies occasionally results in the detection of novel hemoglobin (Hb) variants. Two heterozygous infants were found with different beta chain mutations, neither of which produced obvious clinical or laboratory abnormalities on routine examinations. The variants were characterized by cation exchange high performance liquid chromatography (HPLC), reversed phase HPLC, and sequencing of amplified beta-globin genes. Functional studies could not be performed at this time.
Asunto(s)
Mutación , Globinas beta/genética , Alanina/química , Alanina/genética , Sustitución de Aminoácidos , Ácido Aspártico/química , Ácido Aspártico/genética , Secuencia de Bases , Preescolar , Cromatografía Líquida de Alta Presión , Humanos , Lactante , Isoleucina/química , Isoleucina/genética , Masculino , Datos de Secuencia Molecular , Valina/química , Valina/genética , Globinas beta/químicaRESUMEN
Neonatal cyanosis can result from a multitude of acquired and inherited causes. Cyanosis resulting from fetal M hemoglobin (Hb) variants is very rare. Only two (G)gamma variants causing methemoglobinemia and cyanosis in the newborn have been reported to date. Here we describe a novel fetal Hb variant, Hb F-Circleville [Ggamma63(E7)His-->Leu], associated with methemoglobinemia and cyanosis in the newborn. The patient's sister also had neonatal cyanosis at birth.
Asunto(s)
Cianosis/genética , Hemoglobina Fetal/genética , Globinas/genética , Sustitución de Aminoácidos , Secuencia de Bases , Cianosis/etiología , Femenino , Hemoglobinas Anormales , Histidina/química , Histidina/genética , Humanos , Recién Nacido , Leucina/química , Leucina/genética , Masculino , Datos de Secuencia Molecular , Mutación/genéticaRESUMEN
The efficacy of hydroxyurea (HU) and its role in the reduction in mortality in sickle cell patients has been established. Nevertheless, many patients still die of complications of this disease while on HU. Of the 226 patients treated with HU at our center, 38 died (34 of sickle cell-related causes). Acute chest syndrome (ACS) was the most common (35%) cause of death. Deceased and surviving patients did not differ significantly in average HU dose, baseline fetal hemoglobin (Hb F), or maximum Hb F response. However, the deceased patients were significantly older when HU was instituted, were more anemic, and more likely to have BAN or CAM haplotypes. They also had significantly higher serum blood-urea-nitrogen (BUN) and creatinine levels. Sickle cell patients who die while on HU therapy may represent a subgroup of older patients, possibly with more severe disease and more severe organ damage. Such patients need early identification and prompt HU institution.
Asunto(s)
Anemia de Células Falciformes/tratamiento farmacológico , Anemia de Células Falciformes/mortalidad , Antidrepanocíticos/administración & dosificación , Hidroxiurea/administración & dosificación , Enfermedad Aguda , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
The association of sickle cell trait (SCT) and hereditary spherocytosis (HS) has been reported in only 18 patients. Three of these 18 patients experienced splenic infarct or acute splenic sequestration. We report here a 46-year-old African-American male, the oldest reported case to date, who experienced episodes of hemolysis and severe left upper quadrant pain for the past 26 years. The patient had compensated hemolysis with splenomegaly. A CT scan of the abdomen revealed a large infarct in the spleen. The diagnosis of SCT was confirmed with isoelectric focusing, cation exchange and reverse-phase HPLC. The presence of a silent, interacting globin variant as the cause of hemolysis and sickling in the spleen was ruled out by sequencing of the alpha1-, alpha2- and beta-globin genes. The diagnosis of HS was established by an osmotic fragility test. The interaction of HS and SCT leads to RBC dehydration with increased MCHC and intracellular Hb S concentration presumably favoring intrasplenic sickling and resultant splenic infarcts and sequestration as seen in this case.
Asunto(s)
Anemia de Células Falciformes/complicaciones , Esferocitosis Hereditaria/complicaciones , Anemia de Células Falciformes/diagnóstico , Comorbilidad , Hemólisis , Humanos , Masculino , Persona de Mediana Edad , Fragilidad Osmótica , Esferocitosis Hereditaria/diagnóstico , Bazo/anomalías , Infarto del Bazo/etiología , Esplenomegalia/etiologíaRESUMEN
Hb D-Ibadan [beta87(F3)Thr-->Lys] is a common variant in the Nigerian population, which has been reported in association with Hb S [beta6(A3)Glu-->Val] and with beta-thalassemia. Unlike the Hb S/Hb D-Los Angeles [beta121(GH4)Glu-->Gln] combination, compound heterozygosity for Hb D-Ibadan and Hb S does not result in a sickling disorder. We report the first case of a combination of Hb D-Ibadan with beta+-thalassemia, and the first observation of Hb S/Hb D-Ibadan in the African-American population. In both cases, the characterization of Hb D-Ibadan was achieved by sequencing of the genomic DNA. Although protein based methods such as isoelec-trofocusing and high performance liquid chromatography may suggest that the "D-like" variant is different from Hb D-Los Angeles, the definitive identification of the variant by structural analysis or molecular genetic methods should be undertaken, particularly in newborn screening programs when the variant is found in combination with Hb S.