R233H mutation in patients with tyrosine hydroxylase deficiency and corresponding phenotypes: a study of four cases and literature review.

Owing to the small number of patients with tyrosine hydroxylase (TH) deficiency, no genotype-phenotype correlations have yet been identified. To investigate the genotype-phenotype correlation of R233H mutation in TH deficiency, we analyzed the clinical manifestations and treatment responses of four patients with the R233H homozygous mutation. Thirty-eight additional patients, available from the literature, known to be homozygous or heterozygous for the R233H mutation, were combined with the four cases from our hospital.

Age differences in clinical characteristics, health care, and outcomes after ischemic stroke in China.

Background And Purpose: Little information is available on the effects of age on health care and outcomes of ischemic stroke (IS) in China. Our aim was to evaluated risk factors, health care, and outcomes among age groups including ≤ 45, 46-65, 66-79, and ≥ 80 years and to find whether the outcome was affected by age and health care.

Methods: CNSR is a nationwide prospective registry for patients admitted with acute stroke and prospectively followed up 12-month outcomes.