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1.
Rev Med Chil ; 129(4): 382-9, 2001 Apr.
Article in Spanish | MEDLINE | ID: mdl-11413990

ABSTRACT

UNLABELLED: Circulating concentrations of the high affinity growth hormone binding protein (GHBP) may be a marker of GH receptor density as well as GH sensitivity. GOAL: To determine values of GHBP for a normal Chilean pediatric population. METHODS: We determined GHBP levels in 73 males and 73 females between 4 to 15.5 years and 4 to 16.8 years respectively, divided in 7 groups according to age and puberal status. RESULTS: The population was normally distributed in weight, height and body mass index (BMI). GHBP activity increased up to Tanner IV in males and Tanner III in females, and decreased slightly thereafter in Tanner V and IV respectively. There was a significant difference between GHBP levels of preschool children and those found in Tanner II to V in both sexes (p < 0.05). In addition, we found a positive correlation between GHBP vs weight, height and BMI (p < 0.001) in males and females. CONCLUSION: The availability of this methodology allows us to establish the normative value of GHBP in our population and provides useful information to interpret GH circulating levels in children with growth disorders.


Subject(s)
Carrier Proteins/blood , Adolescent , Biomarkers/blood , Body Height , Body Mass Index , Body Weight , Carrier Proteins/metabolism , Child , Child, Preschool , Female , Humans , Male , Reference Values
2.
Rev Med Chil ; 128(7): 772-7, 2000 Jul.
Article in Spanish | MEDLINE | ID: mdl-11050839

ABSTRACT

Cramps and myalgias are frequent presentations of many disorders whose diagnosis is generally difficult. Among the unusual causes stand the milder phenotypes of dystrophinopathies, which are caused, just as Duchenne and Becker's dystrophy, by mutations in the dystrophin gene. An 8 year-old boy presented severe muscle pain on exercise and serum rise in creatine kinase over 1000 U/l. He had normal muscle power and mild calf hypertrophy. The molecular analysis by polymerase chain reaction (PCR) of the dystrophin gene showed deletions of exons 45 to 51. Dystrophin analysis by Western blot revealed a dystrophin of reduced quantity and molecular weight. Emphasis is made to include dystrophinopathies in the differential diagnosis of myalgias and the usefulness of molecular genetic techniques in the identification of these disorders.


Subject(s)
Dystrophin/genetics , Exercise , Muscular Dystrophies/complications , Pain/etiology , Blotting, Western , Child , Creatine Kinase/blood , Exons/genetics , Gene Deletion , Humans , Male , Muscular Dystrophies/genetics , Polymerase Chain Reaction
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