Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “Recessive”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 631 records · Page 35Linked to original sources

Subpedicle acellular dermal matrix graft and autogenous connective tissue graft in the treatment of gingival recessions: a comparative 1-year clinical study.

BACKGROUND: Many surgical techniques have been proposed for the correction of dental root exposition. Among these, bilaminar techniques (BTs) have been reported as offering the best results in terms of root coverage (RC). However, BTs require a second surgical site to harvest the graft, with discomfort for the patient. The use of an acellular dermal matrix (ADM) avoids the need for a donor site. The aim of this study was to compare the clinical results of 2 BTs by autogenous connective tissue (CT) or ADM. METHODS: In 30 systemically healthy, non-smoking patients aged 34.5 +/- 5.2 years, who showed no periodontal pockets >4 mm after a hygienic phase, a Miller's class I or II gingival recession was treated for root coverage. All patients underwent a BT: in 15 patients, an autogenous connective tissue graft was employed (CT group); in the other 15 subjects, ADM was used as a subepithelial graft (ADM group). Prior to and 1 year after surgical treatment, the following clinical parameters were recorded: gingival recession (GR), probing depth (PD), clinical attachment level (CAL), width of keratinized tissue (KT), and gingival thickness (GT); the percentage of RC (%RC) was also calculated, and the data were statistically analyzed. The number of weeks needed to obtain complete healing with mature tissue appearance was also recorded. RESULTS: Both groups yielded significant improvements in terms of GR decrease, CAL and KT gain, and GT increase as compared to baseline values. The mean %RCs were 88.80 +/- 11.65% and 83.33 +/- 11.40% in the CT and ADM groups, respectively. Complete RC was observed in 46.6% of patients from the CT group, and 26.6% of the ADM group patients. No significant differences were observed between the two techniques for GR, CAL, and GT improvements; however, the CT group produced a significantly (P <0.01) greater increase in KT as compared to the ADM group. Complete healing of the surgical procedure was observed 6.20 +/- 1.01 and 8.93 +/- 1.33 weeks after suture removal in the CT and ADM groups, respectively (P <0.001). CONCLUSIONS: The CT and ADM subepithelial grafts were similarly able to successfully treat gingival recession defects; however, the CT group obtained a significantly greater increase in KT, and showed a quicker complete healing.

Adult↗

A 3-year longitudinal evaluation of subpedicle free connective tissue graft for gingival recession coverage.

BACKGROUND: The purpose of this study was to longitudinally evaluate, over a 3-year period, the reduction of gingival recession through use of a subepithelial free connective tissue graft placed under a coronally advanced partial-thickness pedicle flap. METHODS: Twenty-one buccal recession defects (mean 3.67 mm; range 3 to 4.5 mm; Miller Class I, II, and III) in 15 patients were treated using this technique. Amount of gingival recession (GR), clinical attachment loss (CAL), and width of keratinized gingiva (WKG) were followed for 3 years after surgery. The measurements were performed at presurgery, and 1, 3, 6, 12, 18, 24, and 36 months postsurgery. RESULTS: GR decreased from 3.67 +/- 0.58 mm at baseline to 0.33 +/- 0.43 mm at 36 months, representing a reduction of 3.33 mm, corresponding to 91.28% mean root coverage. CAL was significantly decreased at 36 months from 5.26 +/- 0.77 mm to 2.14 +/- 0.57 mm. At 36 months, 3.12 mm of attachment gain was obtained. WKG significantly increased after 36 months (1.95 mm). GR, CAL, and WKG had the most positive outcomes at 12 months and were maintained at stable levels throughout the 36-month observation period. CONCLUSIONS: These results indicate that the connective tissue graft with a partial thickness coronal advancement pedicle is a predictable method for root coverage and, provided that optimal maintenance care is provided, the clinical outcomes gained by this technique can be well maintained.

Adult↗

Evidence-based mucogingival therapy. Part 2: Ordinary and individual patient data meta-analyses of surgical treatment of recession using complete root coverage as the outcome variable.

BACKGROUND: The literature (1970-2000) on the outcome of surgical root coverage has been revised and summarized in a companion paper. The overall conclusion was that the various procedures are effective, but it was not possible to determine which procedure was best indicated in different clinical conditions. In this study, meta-analysis techniques were used to seek evidence for guiding clinical decisions when planning root coverage surgery. The aim of this study was to illustrate the differences between meta-analyses applied to summarized and individual patient data (IPD) and to present suggestions for reducing the costs of IPD meta-analysis. METHODS: Only clinical trials and case series that included data on the number of teeth treated, baseline recession depth (BRD) and the proportions of postoperative complete root coverage (CRC) were considered. The first group of meta-analyses (the outcome of each procedure based on summarized data) covered 65 studies dealing with coronally advanced flap (CAF), epithelial free gingival graft (EFGG), connective tissue graft (CTG), and guided tissue regeneration (GTR) procedures. The second group of meta-analyses was done to determine the outcome of each procedure on the basis of 26 studies that reported IPD for at least baseline recession depth (BRD) and final CRC for each site. The third group of meta-analysis compared the outcomes of CTG and GTR in 5 randomized studies, 4 of which reported only summarized data. RESULTS: The first analysis showed that CRC was achieved more often in non-randomized than in randomized studies. The heterogeneity tests revealed great variability of results in both the randomized and non-randomized studies, which makes it difficult to draw any definite conclusions. In the second analysis all the tested techniques revealed similar trends: greater baseline recession depths were always associated with a decreased CRC. The third analysis showed that CRC was achieved more frequently in the sites treated with CTG as opposed to GTR. The small sample size and the lack of IPD rendered the analyses inconclusive despite the randomized design. CONCLUSIONS: Few studies reported individual patient data; they are a valuable contribution to clinical decision making, but IPD published in the literature are still insufficient to provide a reliable guide for clinical decision making. Therefore, decisive steps should be taken to facilitate the publication of IPD, in electronic format, whenever a clinical study is published in a leading journal.

Case-Control Studies↗

Connective tissue grafting on resin ionomer in localized gingival recession.

BACKGROUND: One of the main objectives of periodontal reconstructive surgery is the coverage of exposed roots that occur due to gingival recession. On some occasions, where a caries, root resorption, or amalgam restoration exists on the exposed root surface, the treatment planning becomes more complex. This case report describes the use of a subepithelial connective tissue graft (SCTG) on a resin ionomer-restored root surface to treat gingival recession that is complicated with the above-mentioned handicaps. METHODS: An amalgam restoration and carious lesion were removed following full-thickness flap reflection, and the cavity was restored with glass ionomer cement. An SCTG was placed onto the restoration, and the flap was coronally positioned. A porcelain crown restoration was performed 9 months after surgery. RESULTS: At 3-, 6-, and 9-month follow-ups, probing depths were reduced and gain in attachment level was obtained with no clinical signs of inflammation in gingiva. Monthly periodontal controls revealed that creeping attachment had occurred on the restoration during the follow-up periods. CONCLUSION: This single case report serves as a good example to show that SCTG can be successfully performed to treat gingival recession associated with a glass ionomer-restored root surface.

Adult↗

Renal calcifications in patients with autosomal recessive polycystic kidney disease: prevalence and cause.

OBJECTIVE: We investigated the prevalence of renal calcifications in children with autosomal recessive polycystic kidney disease and studied the metabolic changes that could cause this complication. SUBJECTS AND METHODS: Nine patients with known autosomal recessive polycystic kidney disease were examined with sonography and CT and screened for biochemical evidence of metabolic causes of nephrocalcinosis. RESULTS: CT showed bilateral renal calcifications in seven of the nine patients. The two patients without renal calcifications were less than 1 year old. Four patients had only a few calcifications and three patients had many. The severity of the renal calcifications correlated with the degree of kidney failure. All patients with kidney failure were found to have urine acidification defects. Hypocitraturia was present in all patients. CONCLUSION: Our results show that renal calcifications are common in older children with autosomal recessive polycystic kidney disease. Hypocitraturia and the urine acidification defect resulting from kidney failure are the leading factors in the pathogenesis of the calcifications.

Adolescent↗

Effects of nonadditive genetic interactions, inbreeding, and recessive defects on embryo and fetal loss by seventy days.

Lethal recessive genes that cause early embryo loss are difficult to detect. Nonreturn rate at 70 d after first insemination (NR) was evaluated as a trait of the embryo using 1,739,055 first-service records from 1,251 Holstein bulls represented as both service sires and sires of cows. Effects modeled included herd-year-season, parity of cow, sire of cow, service bull, interaction of service bull with sire of cow, and regression on inbreeding of embryo. Variances of service bull and sire of cow were estimated using REML and estimated effects were removed from the data. Interaction variance was estimated from the residuals using the tilde-hat approximation to REML. An additive relationship matrix was used for sire of cow and a dominance relationship matrix for the interaction term. Service bull effects were assumed constant across time and unrelated. For each 10% increase in inbreeding, NR percentage declined by an estimated 1%. A regression of this size could be explained by > 20% of animals carrying defects that cause early embryo loss. Of the total variance, service bull contributed 0.36%; sire of cow, 0.24% (heritability of 1.0%); and interaction, 0.18% (dominance variance of 2.8%). Numbers of records exceeded 500 for 50 bull pair subclasses. Predicted interactions that included effects of inbreeding ranged from - 3.6% to +2.9%, compared with the mean NR of 56%. The largest negative interactions were not caused by known recessive defects. Complex vertebral malformation generally causes loss of pregnancies later in gestation, and few current bulls carry the gene for deficiency of uridine monophosphate synthase. Further study of the families with largest negative interactions could uncover new recessive defects.

Abortion, Veterinary↗

Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation.

Charcot-Marie-Tooth disease type 1 (CMT1) and hereditary neuropathy with liability to pressure palsies (HNPP) are the most frequent autosomal dominantly inherited disorders of the peripheral nervous system. The recessive inheritance is observed only exceptionally. Unequal crossing-over of misaligned flanking CMT1A-REP elements on chromosome 17p11.2 is the most frequent cause of the CMT1A duplication and of the reciprocal deletion in HNPP patients. Recently a recombination was noted. In our study 71 Slovene CMT1 patients from 36 families, 12 HNPP patients from 6 families and their 31 healthy relatives were analysed for the presence of these recombination mutations. In 29 of 36 unrelated CMT1 (81%) and in all 6 unrelated HNPP patients the duplication or the deletion, on chromosome 17p11.2-12 was detected. In 26 out of 29 duplication patients (CMT1A) (90%) a 3.2 kb EcoRI/SacI duplication junction fragment was observed. The analogous 7.8 kb EcoRI/EcoRI deletion junction fragment was found in 4 out of 6 unrelated HNPP deletion patients (67%). Overall we found a recombination mutation inside the in 86% of unrelated Slovene CMT1A and HNPP patients. One hundred and thirty-six DNA samples of the CMT1 and HNPP patients and of the healthy controls were negative for the potentially recessive Thr118Met PMP22 amino acid substitution. Dominantly inherited CMT1A duplications and HNPP deletions on chromosome 17p11.2 are thus, as in most other European countries, the most common mutations in Slovene CMT1 and HNPP patients. No signs of polymorphism or of potentially recessive mutation were found at the specific Thr118Met PMP22 site.

Charcot-Marie-Tooth Disease↗

Guided tissue regeneration versus coronally repositioned flap in the treatment of recession with double papillae.

Twenty buccogingival recessions (3 mm deep) in twenty patients were selected and divided into two groups. Periodontal parameters were recorded (recession reduction, probing depth, clinical attachment level, and keratinized tissue width), and both groups were treated with regenerative therapy using a resorbable polylactic acid membrane. The test group was treated using the double papilla flap procedure, and the control group was treated using the coronally repositioned flap procedure. The results obtained at a 1-year follow-up were comparable between the test and control groups for recession reduction, probing depth, and clinical attachment level, although the test group obtained a very large amount of keratinized gingiva (+74.7%) compared to the control group.

Absorbable Implants↗

Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.

PURPOSE: To determine the frequency and spectrum of mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein (CRALBP) in patients with hereditary retinal degeneration. METHODS: The single-strand conformation polymorphism (SSCP) technique and a direct genomic sequencing technique were used to screen the coding exons of this gene (exons 2-8) for mutations in 324 unrelated patients with recessive or isolate retinitis pigmentosa, retinitis punctata albescens, Leber congenital amaurosis, or a related disease. Variant DNA fragments revealed by SSCP analysis were subsequently sequenced. Selected alleles that altered the coding region or intron splice sites were evaluated further through segregation analysis in the families of the index cases. RESULTS: Four novel mutations were identified in this gene among three unrelated patients with recessively inherited retinitis punctata albescens. Two of the mutations were missense: one was a frameshift, and one affected a canonical splice donor site. CONCLUSIONS: Recessive mutations in the RLBP1 gene are an uncommon cause of retinal degeneration in humans. The phenotype produced by RLBP1 mutations seems to be a form of retinitis punctata albescens.

Adult↗

Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.

PURPOSE: To determine the mutation spectrum of the PDE6A gene encoding the alpha subunit of rod cyclic guanosine monophosphate (cGMP)phosphodiesterase and the proportion of patients with recessive retinitis pigmentosa (RP) due to mutations in this gene. METHODS: The single-strand conformation polymorphism (SSCP) technique and a direct genomic sequencing technique were used to screen all 22 exons of this gene for mutations in 164 unrelated patients with recessive or isolate RP. Variant DNA fragments revealed by SSCP analysis were subsequently sequenced. Selected alleles that altered the coding region or intron splice sites were evaluated further through segregation analysis in the families of the index cases. RESULTS: Four new families were identified with five novel mutations in this gene that cosegregated with disease. Combining the data presented here with those published earlier by the authors, eight different mutations in six families have been discovered to be pathogenic. Two of the mutations are nonsense, five are missense, and one affects a canonical splice-donor site. CONCLUSIONS: The PDE6A gene appears to account for roughly 3% to 4% of families with recessive RP in North America. A compilation of the pathogenic mutations in PDE6A and those reported in the homologous gene PDE6B encoding the beta subunit of rod cGMP-phosphodiesterase shows that the cGMP-binding and catalytic domains are frequently affected.

3',5'-Cyclic-GMP Phosphodiesterases↗

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.

We have observed over 25 different mutations in the diastrophic dysplasia sulphate transporter gene (DTDST) in association with the recessive disorders achondrogenesis 1B, atelosteogenesis 2, and diastrophic dysplasia. The c862t (R279W) transition is the most common mutation in non-Finnish patients, but in these disorders it is usually combined with other DTDST mutations. We had not seen a case of homozygosity for c862t (R279W) until we analysed DNA from a 36 year old male with tall-normal stature (180 cm) who asked for genetic counselling for suspected multiple epiphyseal dysplasia. He was treated for club foot and hip dysplasia at birth. Skeletal changes consistent with multiple epiphyseal dysplasia, with the peculiar finding of a double layered patella, were recognised during childhood. Cleft palate, swelling of the ear pinna, and hitch hiker thumb were absent. He was found to be homozygous, and both healthy parents heterozygous, for the R279W mutation in DTDST, and his fibroblasts showed a sulphate incorporation defect typical of DTDST disorders. Counselling was given for a recessive disorder, thereby considerably reducing the probability of affected offspring. Multiple epiphyseal dysplasia is more frequently caused by dominant mutations in the COMP (EDM1, McKusick 132400) and COL9A2 genes (EDM2, McKusick 600204). A few other patients and families with features similar to our proband have been described previously and considered to have autosomal recessive MED (EDM4, McKusick 226900). This observation confirms the existence of this entity and assigns it to the phenotypic spectrum associated with mutations at the DTDST locus.

Adult↗

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.

Stargardt disease (STGD) is an autosomal recessive macular dystrophy of childhood characterised by bilateral loss of central vision over a period of several months. STGD has been mapped to chromosome 1p22.1 and recently ascribed to mutations in the retinal specific ATP binding transporter gene (ABCR). The fundus flavimaculatus with macular dystrophy (FFM), an autosomal recessive condition responsible for gradual loss of visual acuity in adulthood (second to third decade) has also been mapped to the same locus. However, a gene for autosomal recessive retinitis pigmentosa with distinctive features of choriocapillaris atrophy at an advanced stage (RP19) has been mapped to the genetic interval encompassing the STGD gene on chromosome 1p (D1S435-D1S236), raising the question of whether, despite striking differences in clinical course and presentation, RP19 and STGD might be allelic disorders at the ABCR locus. In a family segregating RP and STGD in two first cousins, we found that heterozygosity for a splicing mutation in the ABCR gene (1938-1 G-->A) resulted in STGD while hemizygosity for this splice mutation resulted in RP, and when studying the RP patient's parents, we found a maternal non-contribution with apparent segregation of a null allele ascribed to a partial deletion of the ABCR gene. The present study shows that, despite striking clinical differences, RP19 and STGD are allelic disorders at the ABCR locus.

ATP-Binding Cassette Transporters↗

Segregation analysis of asthma: recessive major gene component for asthma in relation to history of atopic diseases.

Although asthma has a significant heritable component, the mode of inheritance remains controversial because of the complexity of the disease and the influence of environmental factors. Segregation analysis for asthma are performed with and without a history of atopic diseases (dermatitis and rhinitis) after adjusting for environmental factors. To investigate whether asthma may be inherited through a major gene with two alleles, the REGD program of the Statistical Analysis for Genetic Epidemiology (SAGE) package was conducted in 1,990 individuals from 227 families with at least one asthmatic child in a cross-sectional study of respiratory diseases in Southern Taiwan. Other covariates adjusted for included age, sex, current smoking, and environmental tobacco smoking. The hypothesis of Mendelian model and no parent-offspring transmission was rejected. However, when the variables of atopic disease and environmental factors were included in the model as covariates, the models for a two-allele gene with a recessive or codominant inheritance could not be rejected, and Akaike's Information Criterion was smaller (1,377. 13) for the recessive model than all of the other models tested, assuming a major gene with a population frequency of 0.56 +/- 0.04. However, Mendelian model without family effect was rejected. In conclusion, a history of asthma in parents is a strong risk factor for asthma in offspring. Under the assumptions of the applied segregation, at least one major gene exists that could be a gene involved also in allergy. However, the data suggest that a single locus gene explains a portion of asthma that is related to the history of atopic diseases. In addition, a polygenic/multifactorial (genetic and environmental factors) influence with a recessive component inheritance may be involved in the pathogenesis of asthma.

Adolescent↗

Gingival recession around implants: a 1-year longitudinal prospective study.

A longitudinal study was performed, which measured the soft tissue around implants following surgery, to determine if a predictable pattern of soft tissue changes could be identified. This study evaluated 63 implants in 11 patients. Baseline measurements were recorded at stage 2 surgery in 2-stage implant systems, and at stage 1 surgery in the 1-stage system. Subsequent measurements were recorded at 1 week, 1 month, 3 months, 6 months, 9 months, and 1 year after baseline measurements. The majority of the recession occurred within the first 3 months, and 80% of all sites exhibited recession on the buccal. It is therefore recommended that one wait 3 months for the tissue to stabilize before either selecting a final abutment or making a final impression. As a general rule, one can anticipate approximately 1 mm of recession from the time of abutment connection surgery. A comparison of this study's results with data recorded in previously reported studies reveals clinically significant trends in the nature of soft tissue healing.

Aged↗

[Relative genetic effectiveness of fission neutrons in inducing various types of recessive mutation in Drosophila melanogaster].

The RCR-analysis of 53 gamma-Ray- and neutron-induced vg recessive mutations of Drosophila melanogaster combined with complementation assay with the vg[nw83b27] deletion mutation is used to detect precisely the RGE values of neutrons (0.85 MeV) under the chromosome and point (at the DNA level) mutation induction. Simultaneously, the induction-kinetics of gamma-ray- and neutron-induced macrodeletion as well as recessive lethal mutations in the X-chromosome were studied. The results obtained have shown that all genetic end-points increase linearly with gamma-ray or neutron dose. Thereby, the efficacy of neutrons is found to be twice (and more) as large as that of gamma-rays under the all macro- and micro-aberration mutation induction (macrodeletions and recessive lethals in the X-chromosome, multilocus deletions and intragenic deletions as well). Unlike that, the RGE of neutrons are more than twice as low as that of gamma-rays under the gene/point mutation induction. This feature of neutrons have been predicted as far back as in the early days of the radiation genetics (N.W. Timofeeff-Ressovsky, K.G. Zimmer, 1938), but experimentally supported at the DNA level just now.

Animals↗

A bioresorbable barrier in the treatment of gingival recession: description of a new resorbable dome device.

The biologic principle of guided tissue regeneration has been expanded to mucogingival surgery, using resorbable barrier membranes for the treatment of gingival recessions. Space provision is one of the main problems in non-space making defects, considering the softness of resorbable membranes. In this study, we tested the possibility to create and maintain a secluded space using a slow, long-lasting resorbable suture so that a resorbable dome device could support the barrier and immediately become a space-making device. Ten purely mucogingival recessions in ten patients were treated. At 12 months, the results were evaluated. In five subjects the gingival margin was within 1 mm of the cementoenamel junction, in four patients it was within 2 mm, and in one case a residual gingival recession was present (where the membrane became exposed). The mean root coverage obtained was 70.4%, while the mean gain of clinical attachment was 3.3 mm.

Absorbable Implants↗

Recessive transmission of a multiple endocrine neoplasia syndrome in the rat.

We describe a novel hereditary cancer syndrome in the rat that is transmitted by a recessive gene mutation. Animals exhibiting the mutant phenotype develop multiple neuroendocrine malignancies within the first year of life. The endocrine neoplasia is characterized by bilateral adrenal pheochromocytoma, multiple extra-adrenal pheochromocytoma, bilateral medullary thyroid cell neoplasia, bilateral parathyroid hyperplasia, and pituitary adenoma. The appearance of neoplastic disease is preceded by the development of bilateral juvenile cataracts. Although the spectrum of affected tissues is reminiscent of human forms of multiple endocrine neoplasia (MEN), no germ-line mutations were detected in the Ret or Menin genes that are responsible for the dominantly inherited MEN syndromes in humans. Segregation studies in F1 and F2 crosses yielded frequencies of affected animals entirely consistent with a recessive autosomal mode of inheritance. The lack of the phenotype in F1 animals effectively excludes a germ-line tumor suppressor gene mutation as the causal event. The absence of mutation of known MEN genes and the unique constellation of affected tissues, plus the recessive mode of inheritance, lead us to conclude that the mutation of an as yet unknown gene is responsible for this syndrome of inherited neuroendocrine cancer.

Animals↗

A novel surgical approach to marginal soft tissue recessions: two-year results of 11 case studies.

This article describes a surgical procedure used to achieve gingival coverage in denuded roots in mandibular canines. The first surgical stage involves an apically displaced partial-thickness flap in the area adjacent to the recession. A laterally displaced graft is then employed to cover the recession. Although the technique involves a two-stage surgery, a palatal graft is not required and the surgical procedure only affects one site. This article also presents the clinical results 24 months after the second-stage surgery in 11 deep and wide recessions affecting misaligned mandibular canines.

Adult↗