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1.
J Pediatr Hematol Oncol ; 38(6): 457-62, 2016 08.
Artículo en Inglés | MEDLINE | ID: mdl-27438019

RESUMEN

Short stature is one of the most common endocrinopathies in transfusion-dependent thalassemia (TDT). This study aimed to determine the longitudinal pattern of growth in pediatric patients with TDT and study the relationship between growth and hemoglobin level, serum ferritin level/iron overload parameters, and other clinical factors. The interval height-for-age Z-scores (HAZ) of 50 patients with TDT, of a mean age of 13.3±2.8 years, were analyzed using linear mixed model analysis. Nineteen patients (38%) had short stature with HAZ≤-2.0. The prevalence of short stature increased with age. The estimated mean HAZ decreased by 0.19 SD per year from the age of 5 years until approximately 14 years (95% confidence interval [CI], -0.22 to -0.16, P<0.001). Male sex (estimate, -0.28; 95% CI, -0.43 to -0.14; P<0.001), mean 3-year hemoglobin level ≤8 g/dL (estimate, -0.36; 95% CI, -0.53 to -0.19; P<0.001), mean 3-year ferritin level ≥1800 ng/mL (estimate, -0.44; 95% CI, -0.59 to -0.29; P<0.001), and cardiac T2* ≤20 ms (estimate, -1.05; 95% CI, -1.34 to -0.77; P<0.001) were significantly associated with short stature. In conclusion, short stature in patients with TDT is common and relates significantly with increasing age, male sex, hemoglobin level, and iron overload status.


Asunto(s)
Anemia/fisiopatología , Transfusión Sanguínea , Estatura , Sobrecarga de Hierro/fisiopatología , Talasemia/fisiopatología , Adolescente , Adulto , Factores de Edad , Niño , Femenino , Ferritinas/sangre , Trastornos del Crecimiento/etiología , Hemoglobinas/análisis , Humanos , Estudios Longitudinales , Masculino , Talasemia/sangre , Talasemia/complicaciones
2.
BMJ Case Rep ; 20152015 May 14.
Artículo en Inglés | MEDLINE | ID: mdl-25976191

RESUMEN

Those born with sirenomelia, a rare congenital anomaly, have features resembling a mermaid. Characteristics of sirenomelia are a single lower limb, sacral and pelvic bone defects, and anorectal and urogenital malformations. There is an increased incidence of sirenomelia in males and twins. This case was a preterm male, dizygotic twin and product of in vitro fertilisation. The baby was born by caesarean section due to breech presentation. He was found to have a fused lower extremity and absent external genitalia and anus. The baby passed away shortly after birth due to severe respiratory failure. Radiographic findings showed small lung volume and pneumothoraces. There were multiple segmental fusions of the vertebrae. Single femur and single tibia were presented in a fused lower limb. Autopsy demonstrated large intestinal atresia, intra-abdominal testes, absence of kidney, ureter and bladder, single umbilical artery, agenesis of blood vessels at lower extremity and agenesis of sacrum and coccyx.


Asunto(s)
Anomalías Múltiples , Ectromelia/patología , Gemelos Dicigóticos , Resultado Fatal , Femenino , Fertilización In Vitro , Humanos , Recién Nacido , Masculino , Embarazo , Embarazo Gemelar
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