Mutations in Thyroid Hormone Receptor-beta Associated with Patients with Generalized Resistance and Pituitary Resistance to Thyroid Hormone / 대한내분비학회지

We report a point mutation in the TRbeta gene in korean patients with generalized resistance and pituitary resistance to thyroid hormone. One mutation at TRbeta (P453S) were detected in patient with pituitary resistance to thyroid, which showed different phenotype, generalized resistance to thyroid hormone, in her mothers. But, the other (C31Y), did not show clear relations with the disease. Therefore, further study of molecular and cellular basis will be warranted to explain the clear mechanism of the resistance to thyroid hormone.

Glucokinase gene mutation in non-insulin-dependent diabetes mellitus (NIDDM), and secondary diabetes in Koreans / 대한내과학회지

OBJECTIVES: Mutations in the glucokinase (GCK) gene are considered a possible cause of maturity-onset diabetes of the young. The purpose of this study was to evaluate the contribution of this gene to the development of non insulin dependent diabetes mellitus (NIDDM), gestational diabetes mellitus (GDM) and post-renal transplantation diabetes mellitus (PTDM). METHOD: Identification of GCK mutation was attempted on 39 NIDDM patients, 2 GDM patients and 58 selected renal allograft recipients with PTDM and 45 normal controls. The exons in the GCK gene were examined by polymerase chain reaction (PCR), followed by analysis of single-stranded DNA conformational polymorphism (SSCP). The abnormal bands were also confirmed by DNA sequenc- ing analysis. The exons of affected family members were also investigated for mutations of the GCK gene. RESULTS: Two of the 58 PTDM patients (3.4%) were found to have GCK mutations. One had the mutation on exon 5 and the other on intron 7. One control subject had the mutation on intron 9. The mutation of exon 5 was identified as a substitution of CCT(proline) for CTT (leucine) at codon 164, which has not ever reported before. The family members of the PTDM patient with mutation of exon 5 were analyzed by PCR followed by SSCP, and two of them revealed the same mutation. The abnormal band on the SSCP analysis of exon 7 was identified as the insertion of base C/T at the 39th nucleotide in intron 7. Two family members of this patients also had same band on SSCP. The one mutation of 45 normal controls was CT located at the 8th nucleotide in intron 9, which was a common polymorphism. CONCLUSON: We found GCK mutations in subjects with PTDM and we speculate that these mutations may be one of the contributing cause of PTDM.

A Case of Tuberculous Pneumonitis With Continuous High Spiking Fever / 결핵

A 33-year old male was admitted due to continuous high spiking fever for 2 months via local clinic. He had been diagnosed pulmonary tuberculosis at local clinic. However, spiking fever had not been controlled by anti-tuberculous medications. Chest PA showed confluent consolidation on right upper & mid-lung field. 5 anti-tuberculous regimens (Streptomycin, Isoniazid, Rifampin, Ethambutol, Pyrazinamaide) were administered initially and steroid therapy was followed for relieving toxic symptoms Very slowly resolved chest X-ray lesion and continuous fever suggested the possibility of misdiagnosis. After 60th hospital day, the chest X-ray lesion was resolved gradually and fever subsided almost completely. He was discharged on 76th hospital day with anti-tuberculous drugs and steroid(prednisolon), without any other problems except sustained mild fever.