Creatine deficiency syndromes are a newly described group of inborn errors of creatine synthesis (arginine:glycine amidinotransferase (AGAT) deficiency and guanidinoacetate methyltransferase (GAMT) deficiency) and of creatine transport (creatine transporter (CRTR) deficiency). The common clinical feature of creatine deficiency syndromes is mental retardation and epilepsy suggesting main involve...

OBJECTIVE To explore the laws of traditional Chinese medicine (TCM) syndromes in unstable angina, and to establish the preliminary diagnostic criteria for TCM syndromes. METHODS Multi-center prospective research on TCM syndromes in 815 cases of unstable angina was done with the nonlinear dimension reduction by factor analysis. RESULTS There were five extracted factors in factor analysis: F1...

Two siblings with congenital lymphedema had recurrent pleural effusions in adult life. The brother also had yellow toenails and thus represents an example of the syndrome of lymphedema, pleural effusions, and yellow nails. An immunologic deficiency state in these patients was suggested by recurrent bronchopthonary and skin infections, hypogammaglobulinemia, and episodes of lymphopenia. The sist...

Immunoglobulin class switch recombination deficiencies (Ig CSR deficiencies) or Hyper IgM syndromes (HIGM) are a group of primary immunodeficiency diseases, characterized by defective CD40 signaling of B cells, resulting in reduced CSR and somatic hypermutation. The affected patients are characterized by low serum levels of IgG and IgA, and normal or elevated levels of IgM, which lead to an inc...