No abstract available.
Intussusception*

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.
Alleles ; Charcot-Marie-Tooth Disease ; Diagnosis* ; Genotype ; Humans ; Microsatellite Repeats* ; Multiplex Polymerase Chain Reaction* ; Myelin Sheath ; Paralysis ; Polymerase Chain Reaction ; Sensitivity and Specificity

mastication is basically regulated by central pattern regulator(CPG) of brain system target organ output from CPG is modulated by oral sensory feedback. anterior cross bite pattern infuluence the feedback mechanism and change muscle activity and jaw movement. .The purpose of this study was to investigate diffemce anterior cross bite group from normal group. the selected sample groups were 30 normal patient, 30 anterior cross bite patient. EMG and EGN of Biopak system were used for this study The following results were obtained 1. In resting state of mandible, anterior cross-bite showed the high r muscle activities in all the muscle.(exeeption:left digastric muscle) than normal group. 2. In clenching state, No significant difference in muscle activities of normal group and anterior cross bite group was noticed 3. In swallowing state Normal group showed the higher muscle activities in left and right masseter muscle, right posterior temporal muscle. 4. In maximum opening and closing velocity, normal group showed the higher value than anterior cross-bite. 5. In the mean value of the maximum operiing,the maximum anterior-posterior movement from centric-occlusion, the lateral deviation from centric-occclusion, normal group showed the higher value than anterior cross-bite group.
Adult* ; Brain ; Deglutition ; Feedback, Sensory ; Humans ; Jaw ; Malocclusion* ; Mandible ; Masseter Muscle ; Mastication ; Temporal Muscle

Tooth movement by segment is one of the means which are frequency used in daily orthodontic practice. When we retract or intrude a tooth or teeth, we should recognize the center of resistance of the certain tooth or teeth. There have been many studies about the center of resistance of a single tooth, not so much was about the tooth-segment. At the present study the center of resistance of the maxillary anterior segment is experimentally investigated by using laser reflection technique and metal splints on the human dry skull. The variables of intrusive force magnitude are divided into two groups, 50g and 100g groups. The results were as follows; 1. The center of resistance of the maxillary anterior segment composed of the central and lateral incisors was at the mesial portion of canine crown at the coronal level. 2. The center of resistance of the maxillary anterior segment composed of the central and lateral incisors and canines is between the canine and the 1st premolar crowns at the coronal level.
Bicuspid ; Crowns ; Humans ; Incisor ; Skull ; Splints ; Tooth ; Tooth Movement

The alveolar bone remodeling is essential in tooth movement by orthodontic forces. The collagen and chondroitin sulfate are acting as an important roles in bone remodeling. This study was performed to measure out the quantity of the collagen and chondroitin sulfate in the alveolar bone of rats applied by experimental orthodontic forces. The 150 Sprague-Dawley male rats were divided into the PGE2 treated group, indomethacin treated group and the normal group. A 80gm force rubber band was used as a orthodontic appliance between upper incisors and right upper 1st molar, and left side of experimental rats with no appliance was regarded as a control side. The samples of alveolar bones were obtained from pressure and tension sites in all three groups. respectively, and in control sides, too. The results were as follows. 1. The change in total collagen remains stable in both pressure and tension sites of all three groups, compared with control side by the time consuming. 2. The change in soluble collagen showed the most highest level in tension site, lowest level in pressure site of PGE2 treated group in 5th. experimental day. 3. The change in chondroitin sulfate showed the most highest level in pressure site, lowest level in tension site of PGE2 treated group in 5th. experimental day. 4. In indomethacin treated group, the change of soluble collagen and chondroitin sulfate showed small range of variance compared with PGE2 treated and normal group.
Animals ; Bone Remodeling ; Chondroitin Sulfates* ; Chondroitin* ; Collagen* ; Dinoprostone* ; Humans ; Incisor ; Indomethacin* ; Male ; Molar ; Orthodontic Appliances ; Rats* ; Rats, Sprague-Dawley ; Rubber ; Tooth Movement

No abstract available.
Hernia*

OBJECTIVE: Fetal heart rate in embryos(6-8 gestational weeks) have been significantly related to fetal outcome, but have rarely been studied. We attempted to identify fetal heart rate during 6-8 gestational weeks. Our purpose was to determine the lower limit of the heart rate associated with a favorable outcome and to evaluate the prognosis for those embryos with slow heart rates in early period. METHODS: We prospectively studied 798 singleton pregnancies between Jul. 1997-Dec. 1999 visiting our hospital. Gestational age was calculated from the beginning of the last menstrual period in the case of regular cycle and was confirmed by the crown-rump length. Other cases were measured by crown-rump length or mean gestational sac diameter. Color doppler sonography was used to calculate the fetal heart rate in beats per minute as the mean of 3 waves. RESULTS: Mean fetal heart rate (+/-SD) were 114.08+/-15.40 bpm for group 1, 126.49+/-18.78 for group 2, 139.83+/-19.92 for group 3, and 149.58+/-23.34 for group 4(p<0.001). Prognosis in the first trimester improved as heart rate increased to 100 bpm in group 1 and 120 bpm in group 2. In group 3 and 4, most of fetus with heart rates below 110 bpm died. CONCLUSIONS: The fetal heart rate during 6-8 gestational weeks is associated with fetal outcome at the end of the first trimester and we can identify the fetuses that are in risk.
Crown-Rump Length ; Embryonic Structures ; Female ; Fetal Heart* ; Fetus ; Gestational Age ; Gestational Sac ; Heart Rate ; Heart Rate, Fetal* ; Humans ; Pregnancy ; Pregnancy Trimester, First ; Pregnancy* ; Prognosis ; Prospective Studies ; Ultrasonography*

No abstract available.
Education, Medical*

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.
Adolescent ; Adult ; Charcot-Marie-Tooth Disease/complications/*diagnosis/genetics ; Chromosomes, Human, Pair 17 ; Female ; Genetic Predisposition to Disease ; Humans ; Magnetic Resonance Imaging ; Male ; Median Neuropathy/*diagnosis/genetics ; Myelin Proteins/genetics ; Neurilemmoma/complications/*diagnosis/pathology ; Pedigree ; Peripheral Nervous System Neoplasms/*diagnosis/genetics ; Spinal Cord Neoplasms/*diagnosis/genetics

No abstract available.
Animals ; Cadmium Poisoning* ; Cadmium* ; Olfactory Bulb* ; Rats*