Caries prediction using the caries activity test with a sulfisomidine mixture: a 3-year follow-up study / 대한구강보건학회지

OBJECTIVES: The purpose of this study was to evaluate the prediction validity of the caries activity test with a sulfisomidine mixture (SAHS test). METHODS: This longitudinal follow-up study was conducted for 3 years. The subjects were 155 elementary schoolchildren. Oral examination was performed by examining each tooth surface of the subjects. The number of teeth with new caries lesions was calculated by comparing between the baseline data of the initial oral examination and the results of the second oral examination performed after 3 years. The Dentocult SM test was used as the reference in the analysis of the caries prediction validity of the SAHS test. The items of the validity test for carries prediction were as follows: sensitivity, specificity, predictive value, and likelihood ratio. RESULTS: The correlation between new caries lesions and the SAHS test scores was greater than that between new caries lesions and the Dentocult SM test scores. The receiver-operating analysis revealed that the area under the curve of the SAHS test was higher than that of the Dentocult SM test. The caries prediction validity of the SAHS test (grade 12) was as follows: sensitivity, 0.71-0.70; specificity, 0.60-0.58; positive predictive value, 0.79-0.78; negative predictive value, 0.49 (screening criterion 5). The SAHS test scores were similar to or higher than the scores in the items of the Dentocult SM test. CONCLUSIONS: The SAHS test is considered useful for clinical applications.

Charcot-Marie-Tooth 1A Concurrent with Schwannomas of the Spinal Cord and Median Nerve

We identified Charcot-Marie-Tooth disease type 1A (CMT1A) in a family with schwannomas in the spinal cord and median nerve. The CMT1A in this family showed an autosomal dominant pattern, like other CMT patients with PMP22 duplication, and the family also indicated a possible genetic predisposition to schwannomas by 'mother-to-son' transmission. CMT1A is mainly caused by duplication of chromosome 17p11.2-p12 (PMP22 gene duplication). A schwannoma is a benign encapsulated tumor originating from a Schwann cell. A case of hereditary neuropathy with liability to pressure palsies (HNPP) concurrent with schwannoma has been previously reported. Although it seems that the co-occurrence of CMT1A and schwannomas in a family would be the result of independent events, we could not completely ignore the possibility that the coincidence of two diseases might be due to a shared genetic background.

Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation

Distal hereditary motor neuropathy (dHMN) is a heterogeneous disorder characterized by degeneration of motor nerves in the absence of sensory abnormalities. Recently, mutations in the small heat shock protein 27 (HSP27) gene were found to cause dHMN type II or Charcot-Marie-Tooth disease type 2F (CMT2F). The authors studied 151 Korean axonal CMT or dHMN families, and found a large Korean dHMN type II family with the Ser135Phe mutation in HSP27. This mutation was inherited in an autosomal dominant manner, and was well associated with familial members with the dHMN phenotype. This mutation site is located in the ?-crystallin domain and is highly conserved between different species. The frequency of this HSP27 mutation in Koreans was 0.6%. Magnetic resonance imaging analysis revealed that fatty infiltrations tended to progressively extend distal to proximal muscles in lower extremities. In addition, fatty infiltrations in thigh muscles progressed to affect posterior and anterior compartments but to lesser extents in medial compartment, which differs from CMT1A patients presenting with severe involvements of posterior and medial compartments but less involvement of anterior compartment. The authors describe the clinical and neuroimaging findings of the first Korean dHMN patients with the HSP27 Ser135Phe mutation. To our knowledge, this is the first report of the neuroimaging findings of dHMN type II.

Verbal Memory Function and Characteristics of Memory Process in Schizophrenia and Affective Disorder

OBJECTIVES: This study was to compare verbal memory ability among patients with schizophrenia, bipolar manic patients and unipolar depressive patients, and to understand their charicteristics of memory process. METHODS: All subjects were hospitalized patients and had been interviewed by using the Structured Clinical Interview for DSM-IV(SCID). Schizophrenic patients(N=40), bipolar manic patients(N=17), and unipolar depressive patients(N=20) were assessed with K-AVLT for verbal memory and with K-WAIS for verbal IQ. Three groups were compared regarding total immediate recall, delayed recall, delayed recognition, learning curve, memory retention, and retrieval efficiency under controlled verbal IQ. Multiple regression analysis was performed to find which clinical factors have an influence on verbal memory ability. RESULTS: In MANCOVA, differences of verbal memory test scores among the groups were statistically significant(F=1.800, p<.05). In post hoc analysis, Patients with schizophrenia and bipolar mania showed poorer performance in immediate recall, delayed recall, delayed recognition, retrieval efficiency than unipolar depressive patients. And schizophrenics performed poorly in delayed recall, delayed recognition, retrieval efficiency than nonpsychotic affective disorder group, but no difference in total immediate recall, delayed recall, delayed recognition, retrieval efficiency between the schizophrenic group and the psychotic affective group. CONCLUSIONS: These results partially confirm previous reports of verbal memory ability among major psychiatric disorders. Our results showed that psychotic symptoms were related with verbal memory, and longer duration of illness was related with poorer performance in schizophrenia and unipolar depression.

Diagnosis of Neuropathies for CMT1A and HNPP Using the Microsatellite Multiplex PCR System

BACKGROUND: Tandem duplication of chromosome 17p11.2-p12 including peripheral myelin protein 22 (PMP22) gene is the most frequent cause of Charcot-Marie-Tooth 1A (CMT1A). Patients carrying one extra copy of PMP22 develop CMT1A, whereas the deletion of the 17p11.2-p12 region causes hereditary neuropathy with the liability to pressure palsies (HNPP). In the present study, we established the genotyping methods of 6 microsatellite markers (D17S921, D17S9B, D17S9A, D17S4A, D17S918 and D17S122) within the 17p11.2-p12 regions by the hexaplex PCR for the genetic diagnosis of CMT1A duplication and HNPP deletion. METHODS: We established polymorphic behavior and genotyping methods of 6 microsatellite markers (D17S921, D17S9B, D17S9A, D17S4A, D17S918 and D17S122) within the duplication region. The 6 markers were amplified by hexaplex PCR reaction and analyzed by an automatic sequencing analyzer and genotyper program. RESULTS: The genotype distributions of all markers were not significantly deviated from the Hardy-Weinberg equilibrium (P>or=0.05). When comparing the control group and CMT1A, HNPP patients group by the distribution of allele, there is no significant difference in the 5 locus except in the 1 locus (D17S921) among HNPP patients. The specificity was more than 99.9%. The sensitivity of each CMT1 and HNPP was 56.3% (40/71 pedigrees) and 72.1% (31/43 HNPP pedigrees), respectively. CONCLUSIONS: The error rate for the system may be less than 0.001. According to this study, it is possible to have rapid and exact genetic diagnosis of both CMT1A and HNPP, which may be helpful for the development of personalized therapy according to genetic defects.