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At least 649 records · Page 36Linked to original sources
PubMed1997

Treatment of gingival recession using guided periodontal tissue regeneration.

Gingival recession is an apical displacement of the gingival margin and involves loss of connective tissue attachment and the supporting alveolar bone. Various treatment modalities have been utilized in the treatment of gingival recession in order to eliminate etiologic factors, achieve root coverage, regenerate the lost periodontal attachment, and prevent perpetuation of the disease. During the past two decades, the broad concept of guided tissue regeneration has become specific, identifying the specific treatment involved as guided bone regeneration and guided periodontal tissue regeneration. The learning objective of this article is to review the literature and principles of guided periodontal tissue regeneration in the treatment of gingival recession and to describe the surgical technique for clinical application of these principles. Several cases are utilized to illustrate the detailed clinical presentation of selective cell repopulation of gingival tissue defects.

Adult↗
PubMed2003

[Surgical methods used in the treatment of local gingival recession].

Surgical methods used for repair of gingival recession are reviewed. Modern methods and means of plastic periodontal surgery solve many esthetic problems. The prognosis of the results of gingival plasty in cases of recession of different classes is now becoming more and more favorable. The method of purposeful tissue regeneration is a good supplement to surgical treatment of gingival recession.

Gingival Recession↗
PubMed2003

Autosomal recessive polycystic kidney disease. Clinical and genetic profile. (Review and a case report).

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is a genetic disorder inherited in a recessive manner. The ARPKD gene is located on chromosome 6. The disease is characterised by specific changes in the kidney and liver. AIM: To make a review of modern achievements in studying the clinical, genetic and diagnostic problems concerning ARPKD and contribute an illustrative case. RESULTS: We reviewed modern research on the molecular genetics of autosomal recessive polycystic kidney disease related to PKHD1 gene located on chromosome 6p21-cen, as well as on the role of fibrocystin in the terminal differentiation of the collecting and biliary ductules. The clinical manifestations of the disease in infancy and in early childhood are analysed. A diagnostic algorithm is proposed incorporating both clinical and genetic methods. The illustrative case we reported of a 22-year-old patient with ARPKD supports the view that the disease occurs, though rarely, later than in childhood. CONCLUSION: The authors recommend that in cases with late manifestation of the disease in adolescence with chronic renal failure, possibilities be searched for extracorporeal replacement (renal transplantation) when this is allowed by the complications associated with the congenital liver fibrosis.

Adult↗
PubMed2003

Surgical treatment of gingival recessions using emdogain gel: clinical procedure and case reports.

This article describes the clinical procedure and outcome of surgical treatment of gingival recessions with the adjunctive use of Emdogain gel, an enamel matrix derivative bioactive material for periodontal reconstructive surgery. Six cases with gingival recession on maxillary canines are presented with 12 months of follow-up. Initial gingival recession averaged 4.8 mm, with a mean probing pocket depth of 2.2 mm. At the 12-month follow-up, a mean of 3.5 mm of root coverage was observed (ie, 73% root coverage, range 60% to 100%). Probing pocket depth averaged 1.7 mm, indicating a 4-mm gain of clinical attachment (range 3 to 5 mm). On a clinical level, mucogingival surgery in combination with the application of Emdogain gel results in predictable root coverage and gain of clinical attachment while maintaining shallow pockets.

Adult↗
PubMedDate not supplied

Cutis laxa of the autosomal recessive type in a consanguineous family.

Cutis laxa comprises a group of uncommon disorders of elastin fibers first described by Graf in the early 19th century. The main characteristic is a redundant, loose skin with deep wrinkling or sagging combined with a variable systemic involvement. Histopathologic examination presents various abnormalities of the elastin fibers. We distinguish congenital as well as acquired forms of generalized or localized cutis laxa. The mode of inheritance shows great heterogeneity: autosomal dominant, autosomal recessive and X-linked recessive inheritance have all been described. We present a severe case of autosomal recessive type 1 cutis laxa in a female patient, born in a large, consanguineous Turkish family, where three other family members had already died of the disease. A missense mutation of fibulin-5 was identified in this patient.

Consanguinity↗
PubMedDate not supplied

[Recessive osteopetrosis. Identification of a form of medium severity].

BACKGROUND: Several distinct forms of osteopetrosis have been identified. Some of the autosomally recessive inherited forms are benign, much like the autosomal dominant form. Others are more malignant. PATIENTS: The clinical data, skeletal radiographs, histological features and histories of 32 children with osteopetrosis were analyzed retrospectively. RESULTS: The 32 patients, belonging to 20 sibships were divided into two groups. The first group included 24 patients, aged 1 day-11 months (mean 4.5 months), suffering from hepatosplenomegaly, anemia, thrombocytopenia and optic atrophy in early infancy. They also had a generalized increase in bone density, abnormal bone remodeling, rachitic lesions and a "bone-within-bone" appearance. Biopsies showed severe bone resorption and myelofibrosis. 19 of the 20 patients whose outcomes were known died during the first year of life. The second group included 8 patients, aged 40 days-3 years (mean: 11 months). Hepatosplenomegaly appeared later, anemia was less severe and thrombocytopenia occurred in only 1 patient. However, all 8 patients suffered from optic atrophy and 3 were deaf. Radiographs showed bone growth without rachitic lesions. Biopsies from 2 patients showed bone resorption, but no myelofibrosis. The outcome was less severe: 6 patients, now aged 8 months to 8 years, have survived, 3 of them for over 5 years. Genetic investigation showed patterns compatible with autosomal recessive inheritance in both groups, with similar sets of features within each sibship. CONCLUSION: This study reveals a new type of recessively inherited osteopetrosis. It can be classified as an intermediate form, distinct from both the malignant and the benign forms, and also distinct from osteopetrosis with carbonic anhydrase II deficiency.

Child, Preschool↗
PubMed2004

Autosomal recessive forms of Charcot-Marie-Tooth disease.

In some countries with a high prevalence of consanguineous marriages, autosomal recessive inheritance is likely to account for the great majority of all forms of Charcot-Marie-Tooth (CMT) disease. As with the dominant forms, it is usual to differentiate the demyelinating forms (autosomal recessive -CMT1 or AR-CMT4) from the axonal forms (AR-CMT2). Genetic analysis of large families with recessive transmission has proved to be an efficient mean of discovering novel CMT genotypes (eg, the genes GDAP1, MTMR2, MTMR13, KIAA1985, NDGR1, periaxin, and lamin). Because of the clinical, electrophysiologic, and histologic heterogeneity of these patients, it is likely that there are numerous genes that remain to be discovered, which will probably make classification even more complex. Clinical, and especially histologic, phenotypes often lead to a suspicion that a specific gene is implicated. There is, therefore, an indication for nerve biopsy to orient diagnostic research in molecular biology, which is presently very time consuming and can only be performed in highly specialized laboratories.

Adult↗
PubMed2004

[Recessive motor neuron diseases: mutations in the ALS2 gene and molecular pathogenesis for the upper motor neurodegeneration].

We have initially identified a mutation in ALS2 as a causative for a juvenile autosomal recessive form of amyotrophic lateral sclerosis (ALS), termed ALS2 (OMIM 205100). ALS2 mutations also are causative for an autosomal recessive juvenile primary lateral sclerosis, and infantile-ascending hereditary spastic paralysis. To date, nine homozygous ALS2 mutaions from nine independent families have been identified. All of these mutations result in predicted premature translation termination caused by the recessive frameshift or nonsense mutation. ALS2 is a 184-kD protein comprising several putative guanine nucleotide exchange factor (GEF) domains [RLD; RCC1 like domain, DH. PH domain, VPS9; Vacuolar protein sorting 9 domain]. In vitro, ALS2 specifically binds to the small GTPase Rab5 and functions as a GEF for Rab5. Ectopic expression of full-length ALS2 has further implied an association with endosomal membranes mediated by the VPS9 domain, consistent with ALS2 involvement in endosomal trafficking and fusion in conjunction with the activation of Rab5. These results combined with our findings suggest that an obstruction of endosomal dynamics might underlie neuronal dysfunction and degeneration in ALS2, PLSJ, and HSP, as well as in a number of other motor neuron diseases.

Amyotrophic Lateral Sclerosis↗
PubMed2004

Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy.

Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy: A variety of osteodysplasias are referred to with the term chondrodysplasia punctata (CDP). Here we report on two sibs, a boy and a girl, with probable autosomal recessive form of CDP and epilepsy followed-up for 30 and 19 years, respectively. Family history was unremarkable but for consanguinity. Pregnancies and deliveries were uneventful. At birth, length was 46 (-3SD) and 45 (-4SD) cm, respectively. Craniofacial dysmorphism was noted: severe nasal hypoplasia, flat face, hypertelorism, a low nasal bridge, short stature. Skeletal abnormalities included epiphyseal stippling in the thoracic spine, bilateral proximal and distal humeri, femur, tibia and bilateral carpal and tarsal bones. The boy had a hemivertebrae T12, with absence of a rib. After the age of 6 years facial dysmorphism had improved. Final height was 154 cm (-3SD) in the boy and 158 cm (-0,5SD) in the girl. The boy was operated on for scoliosis. Both sibs had club feet, the girl had also genu valgum. IQ was evaluated to be 55 in the girl and 83 in the boy. The first non febrile generalized seizure appeared in the boy when he was 11 months of age, and in the girl when she was 25 months of age. Both had many other seizures and were taking antiepileptics. EEG were abnormal. Karyotypes were normal. Extensive screening for metabolic disorders was normal. Acquired in utero CDP were excluded. We suggest the sibs described in this report have yet another provisionally unique possibly autosomal recessive syndrome, with CDP and epilepsy as phenotypic traits.

Adult↗
PubMed2006

Root coverage in a class IV recession defect achieved by creeping attachment: a case report.

BACKGROUND AND OBJECTIVES: The amount of root coverage obtained after a graft procedure may be improved after the early phase of healing by a coronal displacement of the gingival attachment. The aim of this report is to present a clinical case of complete root coverage of a Miller's class IV recession achieved by creeping attachment subsequent to a laterally repositioned flap. METHODS: In 1995, a 44-year-old male patient was referred for a root coverage graft on the upper right central incisor. Clinical examination revealed that the upper right central incisor had a recession of 7 mm. The defect was classified as class IV according to Miller's classification of marginal tissue recession. It was decided that root coverage would be attempted using a laterally repositioned flap from the upper right lateral incisor and upper right canine. Sutures were removed ten days after surgery. RESULTS: Four months after grafting, the amount of root coverage obtained was 4 mm. After an 8-year period, the previously denuded root surfaces were entirely covered by soft tissue. The marginal position of the gingiva appeared stable, the gingival tissue became firmly attached to the root surface and probing showed a shallow sulcular depth. CONCLUSION: Several interesting observations were made after 8 years. In conclusion, the most significant and interesting finding of this report is that the amount of interdental papilla and marginal gingival tissue covering donor and recipient areas improved with time, providing an excellent aesthetic appearance.

Adult↗
PubMed2006

Comparison of recombinant human platelet-derived growth factor-BB plus beta tricalcium phosphate and a collagen membrane to subepithelial connective tissue grafting for the treatment of recession defects: a case series.

When mixed with an osteoconductive scaffold, recombinant human platelet-derived growth factor (rhPDGF-BB), a potent wound-healing protein, has been shown to promote clinical attachment gain, radiographic bone fill, and regeneration of the periodontium. This human case series evaluated the clinical outcome of rhPDGF with beta tricalcium phosphate (3-TCP) and a collagen membrane in the treatment of recession-type defects. The control was the clinical gold standard for root coverage: the subepithelial connective tissue graft (CTG). Seven patients with recession defects > or = 3 mm in contralateral quadrants of the maxilla, excluding molars, were treated in this series. Patients were followed postoperatively, and healing was evaluated at 8, 16, and 24 weeks, with recession depth as the primary outcome measure. This case series revealed a favorable tissue response to rhPDGF-BB + beta-TCP and a collagen membrane and comparable clinical outcomes to CTG, warranting a controlled clinical trial of greater magnitude.

Adult↗
PubMed2006

Coronally positioned flap with or without acellular dermal matrix graft in gingival recessions: a histometric study.

PURPOSE: To evaluate, histometrically, the healing of gingival recession treated by coronally positioned flaps (CPF) with or without acellular dermal matrix (ADM) as a subepithelial graft. METHODS: Gingival recessions were created on the upper cuspids of six dogs and were randomly assigned to: CPF+ADM (ADM group) or CPF alone (CPF group). After 4 months, the dogs were sacrificed, and the histometric measurements were performed. RESULTS: The epithelial length was 2.28 + 0.92 mm and 2.10 + 0.46 mm for the ADM and CPF groups, respectively (P=0.74). The connective tissue adaptation was 0.05 + 0.08 mm for the ADM group and 0.06 + 0.08 mm for the CPF group (P=0.36). The new cementum was 2.35 + 1.55 mm and 2.90 + 0.96 mm in the ADM and CPF groups, respectively (P=0.53). The new bone was 0.60 + 1.36 mm for the ADM group and 0.35 + 0.82 mm for the CPF group (P=0.53). The gingival recession was -0.88 + 1.33 mm in the ADM group and -0.21 + 0.22 mm in the CPF group (P=0.21). The gingival thickness was 1.63 + 0.28 mm in the ADM group and 1.16 + 0.20 mm in the CPF group (P=0.002).

Alveolar Process↗
PubMed2006

Current trends in gingival recession coverage--Part II: Enamel matrix derivative and platelet-rich plasma.

The recession of the gingiva is increasingly becoming a prominent condition in the oral health of many patients and should be treated at its earliest detection. Part I of this discussion reviewed the multifactorial etiology and decision modality; a treatment option was demonstrated for gingival recession using the tunneling technique. This concluding part of the discussion highlights two clinical cases using alternative approaches. The correction of Class I and II gingival recessions are presented as a means of minimizing surgical trauma and achieving predictable aesthetic results.

Adult↗
PubMed2006

Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3.

PURPOSE: To refine the interval for X-linked congenital idiopathic nystagmus at Xq24-q26.3 and to evaluate a novel candidate gene (Muscleblind-like 3 gene [MBNL3]). METHODS: A single pedigree with congenital idiopathic nystagmus (CIN) inherited as an X-linked recessive trait underwent detailed clinical examination including nystagmology and electrophysiological investigation in selected subjects. Following detailed phenotyping, genotyping was performed using 52 microsatellite markers spaced at an average of 5 cM along the X chromosome. Subsequent two-point and multipoint linkage analysis were performed and a candidate gene was screened for mutations by conventional sequencing. RESULTS: Linkage mapping located the disease gene to a 15.5cM interval at Xq24-q26.3, between markers DXS1212 and DXS1062 with a maximum two-point LOD score of 4.24 with both markers DXS8044 and DXS994 (theta=0). Multipoint analysis indicated a LOD score of 4.54 and a critical gene interval of 8.0 cM. No mutations were found in the MBNL3 gene in this pedigree. CONCLUSIONS: We describe a family with an unusual inheritance pattern most consistent with X-linked recessive inheritance with X inactivation causing manifesting females. We refine the linkage interval for X-linked recessive congenital idiopathic nystagmus and exclude MBNL3 as the causative gene in this family.

Chromosome Mapping↗
PubMed2006

A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation.

PURPOSE: To describe the clinical and genetic characteristics of a new ophthalmic syndrome, which consists of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen, that segregates as an autosomal recessive trait in a family with four affected siblings. The membrane-type frizzled-related protein (MFRP) and CEH10 homeodomain-containing homolog (CHX10) genes, previously implicated in autosomal recessive forms of nanophthalmos/microphthalmos, were analyzed as candidate genes for this novel disease. METHODS: Complete ophthalmologic examinations were performed in four affected siblings and their parents. Ophthalmologic manifestations, fundus photographs, ultrasonographic (US) assessment, electroretinography (ERG), fluorescein retinal angiography (FA), Goldmann kinetic perimetry (GKP), and optical coherence tomography (OCT), as well as mutational status of MFRP and CHX10 genes in genomic DNA. RESULTS: In all affected siblings, ophthalmologic examination demonstrated normal horizontal corneal diameters and high hyperopia; funduscopy, ERG, and FA evidenced a progressive retinal dystrophy compatible with retinitis pigmentosa; A- and B-mode ultrasonography revealed decreased axial eye length and optic disc drusen; OCT showed localized macular retinoschisis. MFRP molecular analysis disclosed a one base pair insertion in exon 5 (c.498_499insC) in all affected individuals, a mutation that predicts a truncated protein (P165fsX198). Both parents were heterozygous for this mutation. CONCLUSIONS: A distinct autosomal recessive ophthalmic syndrome characterized by microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is described. We demonstrated that this clinical association is caused by a mutation in MFRP, a gene previously implicated in isolated nanophthalmos. Our data indicate that defects in MFRP could be responsible for syndromic forms of microphthalmos/retinal degeneration and that this gene is necessary for photoreceptor maintenance.

Adult↗
PubMed1990

[Oral findings in severely handicapped patients participating in the periodic dental check-up system for five years--dental caries, gingival recessions and hyperplasias, periodontal diseases].

In March 1987, we investigated the quality of oral hygiene, and the incidence of dental caries and periodontal diseases in 140 severely handicapped patients who had been hospitalized in two national sanatorium. All of the patients had participated under the Matsumoto Dental College Hospital Periodic Dental Check-up System for five years. The results were as follows: 1. The teeth of all the subjects had been brushed by the sanatorium nursing staff twice per day. The prevailing brushing technique was the horizontal method. 2. 37.5% of the subjects showed complete adaptability to the tooth brushing by the nursing staff. However, 2.1% showed no adaptability whatsoever. 3. The mean value of the OHI-S was 1.53. The labial surfaces of the maxillary anterior teeth showed the lowest OHI-S value, while the mandibular left posterior teeth showed the highest. 4. The DMF-T was estimated to be 12.51 (DMFT ratio = 48.2%). The average D-T was 2.07 +/- 4.03, and the average F-T was 8.43 +/- 7.22. 5. 19.3% of the patients were diagnosed with gingival hyperplasia, and 10.7% had local gingival recessions. 1) Of the patients who had taken Phenytoin daily, 35.5% were diagnosed with hyperplasia. 2) Most local gingival recessions were found on the labial gingiva of the mandibular anterior teeth. A relationship was determined to exist the local recession and the horizontal brushing method. 6. 89.2% of the patients suffered from periodontal diseases.(ABSTRACT TRUNCATED AT 250 WORDS)

DMF Index↗
PubMed1986

Structural and functional properties of the dermoepidermal junction in obligate heterozygotes for recessive forms of epidermolysis bullosa.

To determine whether heterozygotes for the severe recessive forms of epidermolysis bullosa (EB) partially express characteristic structural or functional abnormalities of the dermoepidermal junction, and thereby allow detection of the carrier state, a controlled morphometric analysis of the junction and the measurement of suction blister times were undertaken in obligate heterozygotes for junctional EB and generalized-recessive dystrophic EB. Skin from generalized recessive dystrophic EB carriers had significantly reduced numbers of anchoring fibrils, and suction blisters showed a tendency to form more rapidly in junctional EB carriers. However, neither of these abnormalities is sufficiently large or consistent to enable the reliable identification of the respective heterozygote state.

Adolescent↗
PubMed1984

[Radiosensitivity of Drosophila lines. VII. The effect of the maternal genotype on the yield of recessive and dominant lethal mutations induced by the gamma irradiation of males].

The effect of material repair on induction of paternal mutations was tested with radiosensitive rad(2)201G1 mutant. Basc males were irradiated at doses from 0 to 60 Gy of gamma-rays and mated to the radiosensitive mutant or control females. Frequencies of sex-linked recessive lethals and dominant lethals (induced in the paternal genome) were determined. With control females, the rate of recessive lethals increased linearly from 0 to 60 Gy. With rad(2)201G1 mutant, an increase in spontaneous and induced rates of paternal dominant lethals was observed; the rate of sex-linked recessive lethals increased non-linearly from 0 to 60 Gy.

Animals↗