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Connexin 32 mutation in a Turkish family with X-linked Charcot-Marie-Tooth disease.

In the present work, we describe a large Turkish family (N=39) with Charcot-Marie-Tooth disease, which is the most commonly inherited peripheral neuropathy. The subjects were from four generations, including six hemizygote patients and nine heterozygote carrier females. Symptoms appeared in late childhood in males (mean age=13.5) but later in carrier females (mean age=33.5). The peripheral nerve conduction was more severely affected in males than females. Genomic DNA was isolated from peripheral white blood cells. Using SSCP technique (single strand conformation polymorphism analysis), abnormal patterns of migration were observed in 15 subjects: 6 of them were hemizygote males and 9 were heterozygote carrier females. We identified a mutation of the Cx32 gene, consisting of a guanine to adenine transition at position 271 (271G-A). The results suggested relations between degenerative processes and position of Cx32 mutations.

Adolescent↗

Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.

From 1995 to 2004, 979 families with hereditary peripheral neuropathy were referred to the Genetic Diagnosis Center. Using single-strand conformation analysis (SSCA), the connexin 32 gene was analysed in all the patients from 498 families with sporadic or dominant inheritance with no male-to-male transmission and absence of the 17p2 duplication or deletion. Affected males had pes cavus, distal leg weakness, muscular distal atrophy, areflexia and distal sensory loss. The 106 families in which SSCA revealed abnormal migration electrophoresis were directly sequenced. We found 34 families (59 patients) with mutations in connexin 32 gene. In electrophysiological studies, 58.8% families presented slow and 14.7% intermediate nerve conduction velocities. Molecular findings revealed that codon 164 (29.4 +/- 15.3%) and the second extracellular (EC2) domain (44.1 +/- 16.6%) were the most frequently affected codon and domain of the connexin 32. Six novel mutations, Leu39fs, Glu47Gly, His153fs, Cys179Tyr, Cys201Phe and Ser211fs, were found in our study.

Amino Acid Sequence↗

Characterization of an in vitro model for evaluating the interface between skin and percutaneous biomaterials.

Percutaneous devices play an essential role in medicine; however, they are often associated with a significant risk of infection. One approach to circumvent infection would be to heal the wound around the devices by promoting skin cell attachment. We used two in vitro assay models to evaluate cutaneous response to poly(2-hydoxyethyl methacrylate) (poly(HEMA)). One approach was to use a cell adhesion assay to test the effects of surface modification of poly(HEMA), and the second used an organ culture system of newborn foreskin biopsies implanted with porous poly(HEMA) rods (20 microm pores) to evaluate the skin/poly(HEMA) interface. Surface modification of poly(HEMA) using 1,1'-carbonyldiimidazole (CDI) enhanced keratinocyte, fibroblast, and endothelial cell adhesion. Keratinocytes in the organ culture model not only remained functionally and structurally viable as observed by immunohistochemistry and electron microscopy, but migrated into the pores of CDI-modified poly(HEMA) rods. No biointegration was seen in the non-CDI-modified poly(HEMA). Laminin 5 immunostaining was seen along the poly(HEMA)/skin interface in a pattern resembling the junctional epithelium of the tooth, the unique natural interface between the skin and tooth that serves as a barrier to bacteria. In vitro systematic evaluation of biomaterials for use in animal implant studies is both cost effective and time efficient.

Aged↗

[Localization of impacted maxillary canines by palpation and orthopantomography].

In orthodontic practice occurred problems associated with labio-palatal localization of impacted permanent maxillary canines. Not always is possible to determinate labio-palatal location of these teeth on the basis of palpation, therefore clinical examination aided by radiographic investigation. Orthopantomogram is the most widely used radiograph in orthodontics. The purpose of present study-test diagnostic value of palpation and orthopantomography in cases of maxillary canines impaction on the basis of evaluation of migration and inclination of impacted teeth. Thirty nine patients of Clinic of Orthodontics, Kaunas University of Medicine, orthopantomograms were available for analysis. Forty two impacted canines were investigated. Only 64% of canines could be palpated. It depended on the vertical position of the tooth. Distribution of the values of canine inclination to the middle of upper jaw was too big for more precise statistical analysis. Canines, which were medial to the 3th horizontal sector (these canines overlapped longitudinal axis of the lateral incisor), were located palatally.

Adolescent↗

Effect of root surface alterations on periodontal healing. I. Surgical denudation.

The present study was undertaken to evaluate the effect of root surface denudation on periodontal healing. Twelve teeth, distributed in four squirrel monkeys, were extracted and reimplanted after surgically denuding the coronal root surface of connective tissue fibers and cementum by root planing. The reimplantation schedule provided three teeth for histologic analysis at 1, 3, 7 and 21 days after reimplantation. One day after reimplantation a zone of fibrin enmeshing erythrocytes and inflammatory cells was interposed between th root surface and the remaining periodontal fibers attached to the alveolar bone. Epithelium migrated rapidly along the denuded root, had reached the alveolar crest at 3 days, and was within the ligament space at 7 days. At 21 days, the epithelium was at the apical limit of root instrumentation, which corresponded to the level of attached connective tissue fibers on the root surface. No evidence of new connective tissue attachment was observed on the denuded root surface. It was concluded that the absence of fibers on the root surface resulted in apical migration of the epithelium, and precluded formation of new connective tissue attachment.

Animals↗

New attachment formation on teeth with a reduced but healthy periodontal ligament.

The present investigation was undertaken to examine whether a new connective tissue attachment will form on previously periodontitis-involved roots when reduced but healthy periodontal ligament tissue persists following periodontal treatment and the epithelium is prevented from migrating into the wound. In each of 4 monkeys, periodontal tissue breakdown was induced around one maxillary and one mandibular second premolar or first molar by placing orthodontic elastics around the teeth. The elastics were kept in situ until about 50% of the supporting tissues had been lost. 3 months following removal of the elastics, the crowns of the teeth were resected. The pocket epithelium and subjacent granulation tissue were excised and the cementum of the periodontitis-involved part of the roots was removed using a diamond bur. The roots were covered with a mucosal flap. The animals were sacrificed after 3 months of healing. The jaws were removed and histological sections of the experimental roots including their surrounding periodontal tissues were produced. The microscopic analysis disclosed that in all roots, new cementum with inserting collagen fibers had formed in the apical portion of the previously exposed root surfaces. It was always in continuity with the original cementum layer apical to the instrumental part of the root and was thickest in its apical portion, becoming gradually thinner in the coronal direction. In the roots, which for the entire length of the study remained covered by the oral mucosa, the extension in the coronal direction of this newly formed fibrous attachment amounted to an average of 1.0 mm with a range from 0.1 mm to 2.6 mm. These findings were interpreted to mean that new attachment is formed by coronal migration of cells originating from the periodontal ligament.

Animals↗

Periodontal ligament cell kinetics following experimental regenerative procedures.

The present study analyzed the cell kinetics in periodontal ligament (PDL) apical to curetted root surfaces following an experimental regeneration procedure. 3 mm of the buccal and interproximal bone was removed around the premolars and molars in 4 Macaca fascicularis monkeys. The exposed root surfaces were planed thoroughly. Before replacing the flaps, pieces of Millipore filter were attached to the crowns of 1 premolar and 1 molar in each quadrant to cover the exposed roots. The adjacent teeth had no physical barriers and served as control wounds. The treatment procedure in 4 segments and sacrifice of the monkeys were scheduled to provide observational periods of 1, 2, 3 and 7 days. 1 h before sacrifice, 3-H thymidine was injected intravenously. Autoradiographs of buccolingual sections were prepared and the labelling index (LI) in the PDL apical to curetted root surface measured in 200 micron increments. The LI remained increased in the first 200 micron of the PDL in both the experimental and control wounds at all observation periods compared to similar zones on the unwounded lingual surfaces. The LI was highest in the first 200 micron zone and decreased to almost normal levels at about 600 micron from the curetted root surface. There were no statistically significant differences between the LI for the PDL apical to experimental and control wounds at all observation periods. The present findings suggest that following experimental regeneration procedures in monkeys, a very limited zone of the PDL apical to the wound acts as a source for cells migrating into the wound.(ABSTRACT TRUNCATED AT 250 WORDS)

Animals↗

Further observations on lower third molar tilt.

The angulation of lower third molars on opposite sides of the jaw was compared on 50 orthopantographic radiographs of children who had mesial migration of lower first permanent molars on one side only following unilateral extraction of lower second deciduous molars. On 36 films the lower third molar was less tilted on the extraction side. Applying a paired t-test this difference is significant (p less than 0.001). The distance of mesial migration was estimated, and the findings are discussed in relation to the hypothesis that early mesial migration of posterior teeth reduces the tilt of lower third molars.

Adolescent↗

Missed cervical spine fracture: chiropractic implications.

OBJECTIVE: To discuss the case of a patient with an anterior compression fracture of the cervical spine, which had been overlooked on initial examination. CLINICAL FEATURES: A 36-year-old man was seen at a chiropractic clinic 1 month after diving into the ocean and hitting his head on the ocean floor. He chipped a tooth but denied loss of consciousness. Initial medical examination in the emergency department did not include radiography, but an anti-inflammatory medication was prescribed. Radiographs taken at the chiropractic clinic 1 month later revealed an anterior compression fracture of the C7 vertebra, with migration of the fragment noted on flexion and extension views. INTERVENTION AND OUTCOME: The patient was referred back to his medical doctor for further evaluation and management.He was instructed to wear a Philadelphia collar for 4 weeks. During this time period, he reported "shooting" pain and tingling from his neck into his arms. The patient reported resolution of his neck and arm symptoms at 2.5 months after injury. Follow-up radiographs at 6 months after injury revealed fusion of the fracture fragment with mild residual deformity. At that time, the patient began a course of chiropractic treatment. CONCLUSION: After head trauma, it is essential to obtain a radiograph of the cervical spine to rule out fracture. Chiropractors should proceed with caution, regardless of any prior medical or ancillary evaluation, before commencing cervical spine manipulation after head and neck trauma.

Adult↗

Ontogenetic migration of the mental foramen in Neandertals and modern humans.

Since the nineteenth century, researchers have noted that Neandertal and modern human adults differ in mental foramen position, although the ontogenetic changes in the position of this feature have only recently come under the scrutiny of paleoanthropologists. Research on mental foramen position has focused on whether this feature is inferior to a particular tooth. However, tooth position may not be a reliable indicator of mental foramen position because of variability in tooth size within and between taxa and during eruption events. As opposed to observing the mental foramen with respect to the postcanine teeth, we examined linear distances from the mental foramen to other mandibular landmarks. Modern human adults may appear truncated, or paedomorphic, in mental foramen position with respect to Neandertal adults. However, infants of the two taxa differ substantially in anterior mandibular form. The initial differences in the shape of the mental region may be related to the embryological position of the mental foramen in modern humans and its role in the development of the mental trigone. The shape changes that accrue thereafter, possibly from faster mandibular growth rates in Neandertals, further distinguish the adults from one another. Although mandibular shape differences exist from early infancy onwards, adults of the two taxa are broadly similar in bi-mental foramen breadth with respect to mandibular size. For this reason, qualitative assessments of mental foramen position may provide less taxonomic information than previously thought.

Adult↗

Effect of biomaterial properties on bone healing in a rabbit tooth extraction socket model.

In this work we sought to understand the effect of biomaterial properties upon healing bone tissue. We hypothesized that a hydrophilic polymer gel implanted into a bone tissue defect would impede the healing process owing to the biomaterial's prevention of protein adsorption and thus cell adhesion. To test this hypothesis, healing bone was investigated within a rabbit incisor extraction socket, a subcritical size bone defect that resists significant soft tissue invasion by virtue of its conformity. After removal of the incisor teeth, one tooth socket was left as an empty control, one was filled with crosslinked polymer networks formed from the hydrophobic polymer poly(propylene fumarate) (PPF), and one was filled with a hydrogel formed from the hydrophilic oligomer oligo(poly(ethylene glycol) fumarate) (OPF). At five different times (4 days as well as 1, 2, 4, and 8 weeks), jaw bone specimens containing the tooth sockets were removed. We analyzed bone healing by histomorphometrical analysis of hematoxylin and eosin stained sections as well as immunohistochemically stained sections. The proposed hypothesis, that a hydrophilic material would hinder bone healing, was supported by the histomorphometrical results. In addition, the immunohistochemical results reflect molecular signaling indicative of the early invasion of platelets, the vascularization of wound-healing tissue, the differentiation of migrating progenitor cells, and the formation and remodeling of bone tissue. Finally, the results emphasize the need to consider biomaterial properties and their differing effects upon endogenous growth factors, and thus bone healing, during the development of tissue engineering devices.

Animals↗

Properties of dissociatively extracted fetal tooth matrix proteins. I. Principal molecular species in developing bovine enamel.

A sequential dissociative extraction scheme is described in which tooth matrix proteins are extracted first in 4 M guanidine HCl, pH 7.4, and then in 4 M guanidine HCl, 0.5 M EDTA, pH 7.4, both with protease inhibitors present. The latter step dissolves the mineralized portion of the tissue and extracts noncollagenous proteins closely associated with hydroxyapatite crystallites in the mineralized matrix. In fetal bovine enamel, the initial dissociative extraction step completely removes proline-rich amelogenins from the tissue without dissolving the enamel apatite. The amelogenin proteins consist of several species on polyacrylamide gel electrophoresis with sodium dodecyl sulfate, but display anomalous migration behavior relative to conventional marker proteins in this technique. Subsequent extraction of fetal bovine enamel with guanidine HCl/EDTA removes matrix enamelins, acidic glycoproteins that are tightly bound to the enamel hydroxyapatite. This latter fetal protein type has not been isolated previously. The enamelins are adsorbed strongly by DEAE-cellulose in 7 M urea and totally adsorb to synthetic apatite, even in 4 M guanidine HCl. The enamelins display normal behavior on polyacrylamide gels and stain positively for sialic acid/phosphate and carbohydrate. With advancing tooth maturation, amelogenins disappear while enamelins are conserved. Gel filtration chromatography in 4 M guanidine HCl showed amelogenin components at apparent molecular weights of approximately 25,000, 15,000, 9,500, 7,500, and 6,000, while the enamelins eluted at Mr positions of approximately 72,000, 56,000, 42,000, 30,000, 21,000, 13,000, and 8,000. The gel filtration data showed a clear shift in molecular size population from higher to lower components for both amelogenins and enamelins with progressive enamel maturation.

Amino Acids↗

Some considerations on the role of cementum in periodontal disease.

The protective role of cementum against root resorption is discussed in relation to buried teeth, orthodontic treatment, replantation and periodontal disease. The essential feature seems to be a layer of partially calcified precementum or vital cementoblasts. Root resorption close to the epithelial attachment, although not common, is probably the result of death of cementoblasts caused by irritants from bacterial plaque, and the presence of severe of prolonged inflammation. Cementum exposed in the pocket can be affected in different ways by these irritants, and rendered unacceptable for re-attachment to periodontal tissue. Successful re-attachment procedures involve either the removal of the affected cementum or its treatment with agents partially to decalcify such as acids, or detoxify by phenol for example. Examples of treatment embodying some of these principles are illustrated by two case histories of localised gingival recession and one of intra-bony pocketing associated with an acute lateral periodontal abscess. In this case a follow-up radiograph taken 16 years later is presented as evidence of the permanence of repair which can be achieved. Root resorption which often follows the use of fresh autogenous bone from the ilium is then discussed and the conclusion reached that the vital cells in the transplant discourage the migration of cementoblasts from the adjacent periodontium. The cementum and dentine thus remain unprotected and susceptible to resorption.

Dental Cementum↗

[Expression of ICAM-1/LFA-1 in the pocket area of adult periodontitis].

OBJECTIVE: To study the expression of ICAM-1/LFA-1 in the pocket area of adult periodontitis. METHODS: Expressions of ICAM-1/LFA-1 in adult gingival of periodontitis and healthy subjects were studied by alkaline phosphorylase-antialkaline phosphorylase technique. RESULTS: Junctional epithelium and apical part of sulcus epithelium expressed ICAM-1 in both adult periodontitis and healthy gingiva, showing an ICAM-1 gradient change with maximal staining at tooth aspect and weaker staining in the basal layer of keratinocytes. Significantly more LFA-1 positive leukocytes were observed in connective tissues and within pocket epithelium in adult periodontitis than those in healthy gingiva. CONCLUSION: ICAM-1/LFA-1 may provide important adhesion pathway for leukocytes migration into gingiva sulcus in adult periodontitis lesions.

Adult↗

Localized periodontitis induced by rubber bands. Report of two cases.

Two cases of severe localized periodontal destruction caused by rubber bands migrating toward the apices subgingivally are reported. In both cases the patients received periodontal treatment followed by orthodontic treatment and the affected teeth were maintained for two years without extraction. The inappropriate use of rubber bands may cause severe periodontal destruction or even lead to tooth mortality. The use of retentive hooks on orthodontic bands and twisted wire ligatures, as well as close professional supervision, are highly recommended to avoid this hazardous situation.

Child↗

[Chemical control of dental plaque via rinsing solution "Antiplaque C". 2. Cytological and bacterioscopic studies].

Two groups of probands have been studied: experimental and control. After the clinically performed oral hygiene all probands stopped the brushing of the teeth for a 7-day period. The oral cavity was twice daily rinsed with 10 ml solution for 30 s--with "Antiplaque C" for the experimental and with placebo--for the control. All probands were taken bilateral probe-impressions according to Dzemileva, Stojanova and Popov in the area of 31 tooth, stained by crystal-violet and observed under light microscope and immersion. The cytological finding in the experimental group did not reveal an inflammatory process in the gingival sulcus whereas increased gingival exudate was established in the placebo group as well as intensified leukocyte migration and single erythrocytes (subclinical phase of inflammation). The bacterioscopic finding in the group, systematically used "Antiplaque C", was reduced to poor dental plaque, preserved "fresh" till the end of the 7-day period being predominantly coccoid-rod-like. In the placebo group the dental plaque "ages"--from coccoid-rod-like it turns into mainly fibril with multiple vibrios and spirillae. The cytological and bacterioscopic data objectivize the inhibitory effect of "Antiplaque C".

Adult↗

[Demonstration of plasmacytes in gingival immune defense units in dermoid cysts of the ovary].

Gingival units of immunological defense have been observed surrounding erupted teeth in the connective tissue of the wall of ovarian dermoid cysts. Using a modified immunoperoxidase technique, the production of IgA, IgG and J chains has been clearly detected. This technique works perfectly on decalcified specimens. Since dermoid cysts are not contaminated, the origin of the plasma-cells in these units is presumed to be triggered by other antigenic factors. These are present in epithelium and provided a possible explanation for the "homing" of lymph-cells migrating from the immune system.

Dermoid Cyst↗