Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC) in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.

Quantitation of C-reactive Protein Levels and Erythrocyte Sedimentation Rate after Spinal Surgery / 대한척추외과학회지

OBJECTIVES: In order to standardize the CRP, ESR and WBC count after three types of spinal surgery and get clinical usefulness from these laboratory dadas after spinal surgery and clincal usefulness of laboratory datas. MATERIAL AND METHODS: Three groups of patients(microdisectomy, anterior and posterior fusion) were chosen for the study. CRP, ESR and WBC levels were prospectively determined before surgery and at days 1-5, 10, 14,21 and 42 after surgery. RESULTS: In all patients, preoperative normal CRP level(<10mg/L) increased, reaching peak levels on the second day after anterior fusion(84.6mg/L), and at the third day after microdiscectomy(54.5mg/L) and posterolateral intercorporal fusion(152.2mg/L), with normalization in 5-10 days. Preoperative normal ESR level increased to peak level on the forth day after microdiscectomy(33.0mm/hr), and increased double peak levels after anterior(postoperative days 2&5) and posterolateral intercorporal fusion(postoperative days 3&5). ESR followed by a slow and irregular decrease, and at 42 days after surgery often remained elevated. WBC increased to variable peak level within normal limit in all patients. CONCLUSIONS: The rapid decline in CRP will probably be interrupted by a second rise or persisting elevation if infection occurs. CRP is presumably a better test than ESR for early detection of postoperative infection.