Histological changes in elastic components of soft palate scars after CO2 and contact Nd:YAG laser incisions in the dog as an experimental model

Soft palate stiffening operations — often with CO₂ or contact Nd:YAG lasers — have been used recently to treat patients with pronounced snoring. Differences in soft palate scars formed after CO₂ and contact Nd:YAG laser incisions were studied in an animal model to determine which of these lasers produces a more rigid scar and consequently might be more effective for a soft palate stiffening operation. Six mongrel dogs were placed in each laser group, after which either the CO₂ or Nd:YAG laser was used to make a 1.5-cm-long soft palate incision. The scars produced were then excised and studied histologically 4 weeks postoperatively. Special attention was paid to collagen density and elastin fibers in the scar tissue. After contact Nd:YAG laser incisions scar tissue was found to contain densely aligned collagen fibers and practically no elastin fibers. CO₂ laser incisions produced significantly different scars: irregularly arranged collagen fibers with some elastin fibers also inside the scar tissue. Differences in the shapes of the scars and wound contractions were also found that were only seen after contact laser incisions. These findings suggest that the contact Nd:YAG laser might be more effective for soft palate stiffening operations.     

Maxillary obturator with silicone-lined hollow extension

A technique is presented for the construction of a hollow extension obturator comprised of two materials: (1) an inner hard acrylic resin hollow core to decrease weight and provide dimensional stability and (2) an outer layer of soft silicone to enhance retention and tissue tolerance.     

Genetic variations and haplotypes of UGT1A4 in a Japanese population

Nineteen genetic variations, including 11 novel ones, were found in exon 1 and its flanking region of the UDP-glucuronosyltransferase (UGT) 1A4 gene from 256 Japanese subjects, consisting of 60 healthy volunteers, 88 cancer patients and 108 arrhythmic patients. These variations include -217T>G and -36G>A in the 5'-flanking region, 30G>A (P10P), 127delA (43fsX22; frame-shift from codon 43 resulting in the termination at the 22nd codon, codon 65), 175delG (59fsX6), 271C>T (R91C), 325A>G (R109G), and 357T>C (N119N) in exon 1, and IVS1+1G>T, IVS1+98A>G and IVS1+101G>T in the following intron. Among them, 127delA and 175delG can confer early termination of translation, resulting in an immature protein that probably lacks enzymatic activity. Variation IVS1+1G>T is located at a splice donor site and thus may lead to aberrant splicing. Since we did not find any significant differences in the frequencies of all the variations among the three subject groups, the data were analyzed as one group. The allele frequencies of the novel variations were 0.006 for IVS1+101G>T, 0.004 for 30G>A (P10P) and 357T>C (N119N), and 0.002 for the 8 other variations. In addition, the two known nonsynonymous single nucleotide polymorphisms (SNPs), 31C>T (R11W) and 142T>G (L48V), were found at 0.012 and 0.129 frequencies, respectively. The SNP 70C>A (P24T), mostly linked with 142T>G (L48V) in German Caucasians, was not detected in this study. Sixteen haplotypes were identified or inferred, and some haplotypes were confirmed by cloning and sequencing. It was shown that most of 142T>G (L48V) was linked with -219C>T, -163G>A, 448T>C (L150L), 804G>A (P268P), and IVS1+43C>T, comprising haplotype *3a; haplotype *4a harbors 31C>T (R11W); 127delA (43fsX22) and 142T>G (L48V) were linked (haplotype *5a); 175delG (59fsX6) was linked with 325A>G (R109G) (*6a haplotype); and -219C>T, -163G>A, 142T>G (L48V), 271C>T (R91C), 448T>C (L150L), 804G>A (P268P), and IVS1+43C>T comprised haplotype *7a. Our results provide fundamental and useful information for genotyping UGT1A4 in the Japanese and probably Asian populations.     

A case of giant epidermoid cyst occupying the testis

A case of a giant epidermoid cyst of the testis is presented. A 65-year-old man was incidentally pointed out to have left scrotal painless swelling. Physical examination revealed an over hen-egg sized enlargement of the left scrotal contents. Ultrasonography revealed a 7.5 X 5.5 X 4.0 cm solid tumor with heterogeneous echogenicity. No other abnormal findings were observed including tumor markers. Since preoperative examination did not rule out malignancy, we performed left high orchiectomy. Pathological diagnosis was a epidermoid cyst of the testis with a small portion of atrophic testis. Although the preoperative diagnosis of testicular epidermoid cyst is possible, it may be considerably difficult when a giant epidermoid cyst is occupying the testis.     

Malignant gastrointestinal stromal tumor of the small intestine complicated with pulmonary tuberculosis during treatment with imatinib mesylate

We describe a patient who had a metastatic gastrointestinal stromal tumor (GIST) after previous failed extensive therapy, including multiple surgeries and hepatic artery embolization. Within a few months of starting administration of imatinib mesylate, the patient exhibited a clinical response with grade 3 neutropenia, when pulmonary tuberculosis developed. A c-kit mutation in exon 11 was detected only in metastatic liver specimens. It is unclear whether or not pulmonary tuberculosis may be induced by imatinib mesylate treatment, but caution is warranted in immunocompromised GIST patients. This is the first report of tuberculosis associated with neutropenia during imatinib mesylate treatment.     

Assays for thyroid-stimulating antibodies and thyrotropin-binding inhibitory immunoglobulins in children with Graves' disease

Studies on thyrotropin receptor autoantibodies (TRAb) by measurement of both thyroid-stimulating antibodies (TSAb) and thyrotropin-binding inhibitory immunoglobulins (TBII) in serum from children with Graves' disease are limited in number of studies. The aim of this study was to investigate the levels of serum TSAb and TBII in children with Graves' disease, and to evaluate the clinical significance of these antibodies. We measured the serum TSAb and TBII at diagnosis and during management in 65 children with Graves' disease. Patients were divided into four groups according to their metabolic state: those with untreated active Graves' disease, those receiving treatment with antithyroid drugs, those in remission, and those in relapse. At diagnosis, both TSAb and TBII assays had high sensitivities and high specificities. In follow-up, the levels of both TSAb and TBII paralleled the course of the disease. There was a strong positive correlation between TSAb and TBII. TBII levels were significantly higher in the patients with ophthalmopathy than those without ophthalmopathy in untreated Graves' children. It was concluded that TSAb and TBII measurements are valuable in the diagnosis and management of children with Graves' disease.     

Color electromyographic topographic analysis of facial movements

To determine the precise amount of facial function present in patients with facial palsy, color electromyographic (EMG) topograms of the facial movements were made using a computerized system, newly designed and manufactured by the authors. During mimetic movements, such as wrinkling the forehead, closing the eyes, blinking, grinning, and blowing out the cheeks, EMGs from 16 monopolar disk electrodes were concurrently recorded from the frontalis, orbicularis oculi, and orbicularis oris muscles on both sides. The amplitude values of the integrated EMG spikes from each electrode were calculated by an interpolation formula in the computer, and the color topographic figures derived from these calculations were displayed on a ten-color computer monitor. The colors ranged from blue to dark red, and they were related to the amount of muscular activity. This technique was applied to patients with facial palsy to document their degree of mimetic movement loss and the time course of the palsy evolution. The results obtained were reliable and reproducible, and the technique made it easy to quantify the loss of mimetic movements in patients with facial palsy.     

Functional analysis of natural mutations in two TWIST protein motifs

Autosomal-dominant hypercholesterolemia (ADH) has been identified as a major risk factor for coronary vascular disease (CVD) and is associated with mutations in the low-density lipoprotein receptor (LDLR) and the apolipoprotein B (APOB) gene. Since 1991 DNA samples from clinically diagnosed ADH patients have been routinely analyzed for the presence of LDLR and APOB gene mutations. As of 2001, 1,641 index patients (164 index patients per year) had been identified, while from 2001 onward a more sensitive, high-throughput system was used, resulting in the identification of 1,177 new index patients (average=294 index patients per year). Of these 1,177 index cases, 131 different causative genetic variants in the LDLR gene and six different causative mutations in the APOB gene were new for the Dutch population. Of these 131 mutations, 83 LDLR and four APOB gene mutations had not been reported before. The inclusion of all 2,818 index cases into the national screening program for familial hypercholesterolemia (FH) resulted in the identification of 7,079 relatives who carried a mutation that causes ADH. Screening of the LDLR and APOB genes in clinically diagnosed FH patients resulted in approximately 77% of the patients being identified as carriers of a causative mutation. The population of patients with ADH was divided into three genetically distinct groups: carriers of an LDLR mutation (FH), carriers of an APOB mutation (FDB), and non-LDLR/non-APOB patients (FH3). No differences were found with regard to untreated cholesterol levels, response to therapy, and onset of CVD. However, all groups were at an increased risk for CVD. Therefore, to ultimately identify all individuals with ADH, the identification of new genes and mutations in the genes that cause ADH is of crucial importance for the ongoing national program to identify patients with ADH by genetic cascade screening.     

Accuracy and precision of a system for assessing severity of tooth wear

PURPOSE: The purpose of this study was to introduce a computer-assisted quantitative tooth wear-analyzing system and test its accuracy and precision. MATERIALS AND METHODS: An image of a horizontally projected dental arch was captured, and the facet area of each tooth was calculated using a digital image analyzer. For normalization, the facet area of the individual tooth was divided by the total area of the corresponding tooth; this result was the tooth wear score. The accuracy and precision of this method were determined through the intraclass correlation coefficient using 10 dental casts. Tooth wear on the dental casts of 50 subjects was actually measured. RESULTS: The accuracy of the tooth wear score determined by a newly trained examiner was greater than 0.85 of the intraclass correlation coefficient; this was tested against the score determined by consensus of three experienced examiners. The reproducibility within a 1-week interval was also greater than 0.85. With regard to the tooth wear score from 50 sets of dental casts, the distribution of tooth wear was generally consistent with data reported in the literature. CONCLUSION: The results suggest that the newly trained examiner can exhibit adequate accuracy and precision after appropriate training in identifying tooth wear facets. Recorded data from 50 subjects added face validity to this new system.