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PubMed1986

ATP-induced cell contraction with epidermolysis bullosa dystrophica recessive and normal dermal fibroblasts.

Human dermal fibroblasts cultured on glass coverslips and permeabilized by glycerol can be induced to undergo cell shrinkage by the addition of ATP in buffer containing calcium and magnesium. They reduce in size by 72% in 10 min. ATP-induced cell contraction is linked to an aggregation of cytoplasmic filaments as demonstrated by rhodamine-phalloidin F-actin staining. Before the addition of ATP, glycerinated cells have parallel arrangements of staining cytoplasmic filaments. Afterward, dermal fibroblasts from patients with epidermolysis bullosa dystrophica recessive (EBdr) show only a 10-20% reduction in cell size, and little F-actin aggregation staining can be demonstrated. Epidermolysis bullosa dystrophica recessive fibroblasts have been reported to produce excess prostaglandin E2 (PGE2) and cAMP. The preincubation of normal dermal fibroblasts for 24-30 h with 10 micrograms/ml PGE2, 10 micrograms/ml cholera toxin, or 1 mM dibutyl cAMP will reduce ATP-induced cell contraction to less than 20%. Treated cells showed little disruption of cytoplasmic F-actin. Epidermolysis bullosa dystrophica recessive fibroblasts preincubated with the cyclooxygenase inhibitor indomethacin at 10 micrograms/ml restored cell contraction to 74%. These treated cells also show aggregation of F-actin filaments. The process of ATP-induced cell contraction can be altered by the intracellular concentrations of cAMP, the levels of which are elevated in the fibroblasts in EBdr patients. A mechanism for cAMP inhibition of cell contraction is discussed.

Adenosine Triphosphate↗

PubMed1988

Prenatal diagnosis of dominant and recessive dystrophic epidermolysis bullosa: application and limitations in the use of KF-1 and LH 7:2 monoclonal antibodies and immunofluorescence mapping technique.

Prenatal diagnosis is now possible for junctional and recessive dystrophic forms of epidermolysis bullosa (EB); however, there is no similar published experience for dominant dystrophic EB, although data with KF-1 monoclonal antibody suggests that both forms of dystrophic EB can be identified at least postnatally with this unique probe. We now report our experience with light microscopy, electron microscopy, immunofluorescence mapping, and KF-1 and LH 7:2 monoclonal antibodies, in both a mother with dominant dystrophic EB and her fetus at risk, and in a fetus previously shown to be affected with recessive dystrophic EB. KF-1 and LH 7:2 antigens were absent in recessive dystrophic EB fetal skin, identical to findings observed postnatally. LH 7:2 was normally expressed in a mother with dominant dystrophic EB and in her fetus at risk for this disease. In contrast, while KF-1 antigen was abnormally expressed in the affected mother, it was normally expressed in only 1/7 fetal biopsies despite the fact that this fetus was shown by light and electron microscopy and immunofluorescence mapping to be unaffected with dominant dystrophic EB. We conclude that 1) transmission electron microscopy can be used to prenatally exclude the diagnosis of dominant dystrophic EB (Cockayne-Touraine variety), 2) immunofluorescence mapping is an accurate technique for prenatal as well as postnatal diagnosis of EB, and 3) KF-1 cannot by itself be used as an accurate probe for the prenatal diagnosis of dominant dystrophic EB, due to the apparent variability in the time for the normal expression of KF-1 in fetal skin during the second trimester.

Adult↗

PubMed1984

Evidence for a functional defect of the lamina lucida in recessive dystrophic epidermolysis bullosa demonstrated by suction blisters.

Suction blisters were raised in non-lesional skin of sixteen patients with various types of epidermolysis bullosa (EB). The ultrastructural level of separation was found in each type to be within the lamina lucida of the epidermal basement membrane zone. Suction blister times were normal in EB simplex, dominant dystrophic and localized recessive dystrophic EB, but were markedly reduced in both junctional EB and severe generalized recessive dystrophic EB. These data indicate an unpredicted abnormality of adhesion within the lamina lucida in severe recessive dystrophic EB, in addition to the well-recognized defect at a deeper level, beneath the lamina densa, in this condition. The use of suction blister times may prove valuable in the diagnosis of EB.

Adhesiveness↗

PubMed1994

A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects.

X-linked recessive ichthyosis (XLI) is caused by a deletion, or mutation, of the steroid sulphatase gene on the distal short arm of the X chromosome (Xp22.3). This region of the X chromosome is particularly susceptible to deletions. Such deletions can occasionally extend to involve neighbouring genes, causing a contiguous gene defect. Therefore, XLI may be associated with Kallmann's syndrome (KS), mental retardation, X-linked recessive chondrodysplasia punctata and short stature. We have reviewed 33 patients with XLI. Nine showed evidence of contiguous gene defects. A further four had neurological deficit sustained at the time of birth. This study highlights the importance of screening patients with X-linked recessive ichthyosis for neighbouring genetic disorders and, in particular, the early identification of KS, as delay in diagnosis may lead to infertility and osteoporosis. Parents should be warned about possible obstetric complications due to prolonged labour in future pregnancies.

Adult↗

PubMedDate not supplied

The suprahabenular recess in the rat: a quantitative study of ciliated cells, supraependymal cells and some specific features of supraependymal fibres.

Using light microscopy, scanning and transmission electron microscopy, an extensive quantitative analysis of ciliated ependymal cells, supraependymal cells and supraependymal fibres in the suprahabenular recess of twenty-two adult Wistar rats was carried out. In addition, six animals were used to determine the origin of supraependymal fibres and their relationship to ependyma. The findings were as follows: ciliated cells-mean 3.32 +/- 0.26 per 1000 micron 2 (range 0-10); supraependymal cells-5.91 +/- 1.37 per recess (range 2-16). Average number of cilia per cell in different animals ranged from 31 to 33. Sex did not influence the density of ciliated ependyma or supraependymal cells. Evidence was obtained that some supraependymal fibres are closely associated with aberrant commissural fibres. The supraependymal fibres enter the suprahabenular recess and form gap junctions, and other types of junctions, with subjacent ependyma.

Animals↗

PubMed2005

The eukaryotic translation initiation factor 4E confers multiallelic recessive Bymovirus resistance in Hordeum vulgare (L.).

Virus diseases are widespread threats for crop production, which can, in many cases, be controlled efficiently by exploiting naturally occurring resistance. Barley, an important cereal species of the Triticeae, carries two genes, rym4 and rym5, which are located in the telomeric region of chromosome 3HL and confer recessive resistance to various strains of the Barley yellow mosaic virus complex. The barley 'eukaryotic translation initiation factor 4E' (Hv-eIF4E) was identified as a candidate for resistance gene function by physical mapping on a 650 kb contig. It is located in a chromosomal region characterized by suppressed recombination, in a position collinear to its homologue on rice chromosome 1L. Sequence diversity in the coding region of Hv-eIF4E, as calculated from a collection of unrelated barley accessions, revealed non-silent single nucleotide polymorphisms (SNPs) in four of its five exons. Stable transformation of a resistant barley genotype with a genomic fragment or a full-length cDNA of Hv-eIF4E derived from susceptible cultivars induced susceptibility to Barley mild mosaic virus. Moreover, the identification of SNPs diagnostic for rym4 and rym5 provides evidence that these are two alleles, which confer different resistance specificities. These findings demonstrate that variants of Hv-eIF4E confer multiallelic recessive virus resistance in a monocot species. The identification of eIF4E as the causal host factor for bymovirus resistance illustrates that mutations in this basic component of the eukaryotic translation complex form a seminal mechanism for recessive virus resistance in both dicot and monocot plants.

Alleles↗

PubMed1980

Results with graduated recession of the superior oblique muscle.

A technique for graduated recession of the superior oblique muscle is described and the results in 22 patients outlined. For each dioptre of vertical error 1 mm of recession was performed with a minimum of 5 and maximum of 10mm. A good result reducing the vertical deviation to less than 3 dioptres was obtained in 9 of 21 cases. A good result was much more likely with an initial vertical deviation of 4 - 10 dioptres and if only one superior oblique was operated upon. A good result with elimination of the A sign was obtained in 13 of 15 cases with either unilateral or bilateral surgery. Graduated recession seems safe and predictable and is capable of being combined with other squint surgery.

Humans↗

PubMed1979

Recession: a 4-year longitudinal study after free gingival grafts.

Free gingival grafts were performed on recession areas around 42 teeth in 12 patients, with postoperative evaluation of recurrent recession after 1, 6, 12, 24 and 48 months. No changes in degree of recession were observed during the 4-year period. The vestibuloplasties, which were always wider than the transplants, exhibited recurrence up to the transplant margin 6 months after surgery, while the transplants themselves exhibited an average shrinkage of 25%. In addition, 25% of the increase in vestibular depth achieved by the surgery was lost 1 month postoperatively, but there was a tendency toward increasing vestibulum depth during the ensuing 47 months. Gingival sulcus depth was not affected by the surgery.

Follow-Up Studies↗

PubMed1982

A longitudinal study of isolated gingival recession in the mandibular central incisor region of children aged 6-8 years.

A 2-year longitudinal investigation of isolated gingival recession was undertaken in 42 children aged 6-8 years at the commencement of the study. Gingival inflammation was controlled by supervised tooth brushing or professional plaque control. Mandibular anterior crowding considered to have contributed to the degree of recession was untreated in 11 subjects, while in 13 subjects serial extractions had been undertaken. No attempt was made to correct frenal involvement in those subjects (9) where it might have been considered a contributing etiologic factor. After 2 years, improvement in gingival contour was most apparent in those subjects whose gingival inflammation had been controlled. This was achieved more readily with professional plaque control than with supervised tooth brushing. Improvement in arch alignment and gingival contour was greater in untreated subjects than in those receiving serial extractions. WHen gingival inflammation was controlled evidence of frenal involvement declined. Control of gingival inflammation appears to be the most important factor in the treatment of isolated gingival recession in the mandibular central incisor region.

Child↗

PubMed1983

Gingival recession in the mandibular central incisor region of Saudi schoolchildren aged 10-15 years.

Incidence of gingival recession in the mandibular central incisor region was examined in a sample of 1336 male and female Saudi schoolchildren aged from 10-15 yr. Gingival recession was found in 9.88% with no significant difference in the affected teeth by age (p greater than 0.8361). There was a significant difference in the mean clinical crown length between the affected and adjacent teeth (p less than 0.0001). The highest significant association of gingival recession was found with inflammation (p less than 0.0001), anterior crowding (p less than 0.0009) and frenal involvement (p less than 0.0001). The results of this investigation suggest that future studies should be made to evaluate the effect of miswak as a cleansing agent for the gingival tissues among the Saudi population.

Adolescent↗

PubMed1998

Does dental service utilization drop during economic recession? The example of Finland, 1991-94.

UNLABELLED: After enjoying rapid economic growth in the 1980s, Finland suffered a deep economic recession that began in 1990. It has been claimed that recession and uneven subsidies influence the use of dental services negatively. Finnish adults born after 1956 and world war veterans are entitled to subsidized dental care either in the Public Dental Service (PDS) or in the private sector. Other adults pay their treatment costs. OBJECTIVES: The purpose of this paper is to determine whether the economic recession in Finland during the early 1990s affected the use of dental services. METHODS: The data were collected by the National Research and Development Centre for Welfare and Health using a method called CATI (Computer Assisted Telephone Interview). The target population was non-institutionalized persons aged 25-79 years. RESULTS: About one-third of those interviewed had visited a dentist during the previous 6 months and this proportion was stable during the years studied. Number of teeth, length of education, income and sex had the highest predictive values for use of dental services as analyzed by multiple logistic regression. Two-thirds had visited a private practitioner, one-third a PDS clinic and a small percentage some other dentist or denturist. CONCLUSIONS: The results showed that the dental service utilization by Finns was stable during this period of economic downturn and only minor changes occurred in the mean number of visits. The most prominent change was seen in the youngest age group, among whom dental utilization decreased by almost 10%. The study indicated that subsidies do not strongly affect dental utilization today.

Adult↗

PubMed2006

Skin layer-specific transcriptional profiles in normal and recessive yellow (Mc1re/Mc1re) mice.

The melanocortin 1 receptor (Mc1r) plays a central role in cutaneous biology, but is expressed at very low levels by a small fraction of cells in the skin. In humans, loss-of-function MC1R mutations cause fair skin, freckling, red hair, and increased predisposition to melanoma; in mice, Mc1r loss-of-function is responsible for the recessive yellow mutation, associated with pheomelanic hair and a decreased number of epidermal melanocytes. To better understand how Mc1r signaling affects different cutaneous phenotypes, we examined large-scale patterns of gene expression in different skin components (whole epidermal sheets, basal epidermal cells and whole skins) of neonatal (P2.5) normal and recessive yellow mice, starting with a 26K mouse cDNA microarray. From c. 17 000 genes whose levels could be accurately measured in neonatal skin, we identified 883, 2097 and 552 genes that were uniquely expressed in the suprabasal epidermis, basal epidermis and dermis, respectively; specific biologic roles could be assigned for each class. Comparison of normal and recessive yellow mice revealed 69 differentially expressed genes, of which the majority had not been previously implicated in Mc1r signaling. Surprisingly, many of the Mc1r-dependent genes are expressed in cells other than melanocytes, even though Mc1r expression in the skin is confined almost exclusively to epidermal melanocytes. These results reveal new targets for Mc1r signaling, and point to a previously unappreciated role for a Mc1r-dependent paracrine effect of melanocytes on other components of the skin.

Animals↗

PubMed1992

Juvenile cataract with autosomal recessive inheritance. A study from the Aland Islands, Finland.

Juvenile (including congenital and infantile) cataract occurs commonly as part of a more generalized or systematic condition, or as a component of a syndrome. Isolated juvenile cataract is a relatively rare disorder and the mode of inheritance is often autosomal dominant. Autosomal recessive transmission of isolated juvenile cataract is rare. The present paper is a report of 15 cases of juvenile cataract on the Aland Islands (Finland) with about 23,000 inhabitants. Twelve belong to 7 sibships of two different pedigrees and 3 cases are sporadic, of which we have found no genealogical connections in the last 6-10 generations to the two cataracta pedigrees. One of the sporadic cases presented an operated cleft palate and a chromosomal anomaly. In another sporadic case the mother probably had been infected with rubella during early gestation. In the third sporadic case the cataract was combined with partial aniridia, but he has several genealogical connections to one of the cataract pedigrees. Consanguinity between the parents was detected in 5 of the 7 sibships, in some even on various ancestral levels. Apart from the cataracts, all patients were healthy, with normal intellect, behavior, hearing, growth and development. They were neurologically intact and there were no ocular lesions apart from cataract. In the Alandic familial cases the cataracts appear to be an autosomal recessive trait. A family branch originating from southwestern Sweden and south Norway showed transmission of the cataract in three successive generations. The possibility of quasi-dominant inheritance is discussed against the background that autosomal recessive juvenile cataract may not be so rare as the small number of recorded cases would suggest.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗

PubMed1990

Convergence excess esotropia treated surgically with fadenoperation and medical rectus muscle recessions.

Convergence excess esotropia has been treated with bifocals, miotics, medial rectus recession(s), fadenoperation, or a combination of these. However, comparatively few studies on the sensory status of these patients exist. We present the sensory findings in 31 children treated surgically. Twenty-one had fadenoperations combined with bimedial rectus recessions, one had a fadenoperation alone, and nine had augmented bimedial rectus recessions. Five children (16%) achieved bifoveal fusion, 22 (71%) had varying degrees of peripheral fusion, and four (13%) had no detectable binocularity after a mean postoperative follow-up of 2.4 years.

Child↗

PubMed1996

One stage vertical rectus muscle recession using adjustable sutures under local anaesthesia.

AIMS: To assess the results of visual axis alignment following one stage adjustable suture surgery to correct vertical diplopia. METHOD: Eight patients with a mean age of 44.9 years (range 16-80 years) complaining of vertical diplopia underwent rectus muscle recession under local anaesthesia with intraoperative adjustment of sutures. Diplopia was secondary to superior oblique paresis in four patients, dysthyroid eye disease in two patients, superior rectus paresis in one patient, and one developed a consecutive deviation after previous squint surgery. The surgery consisted of seven single muscle recessions (six inferior recti and one superior rectus) and one two muscle recession (inferior and lateral recti). The surgery was performed under topical anaesthesia supplemented with a subconjunctival injection of local anaesthetic over the muscle insertions. RESULTS: The patients remained comfortable throughout their surgery. All had a reduction in their vertical deviation. Six were asymptomatic and were eventually discharged. One had residual diplopia which was well tolerated without further intervention. One had persistent troublesome diplopia which was corrected by temporary Fresnel prisms. He became asymptomatic after further surgery of a 1 mm inferior rectus advancement. CONCLUSION: One stage adjustable suture surgery is recommended in all cases of strabismus surgery when postoperative results would otherwise be unpredictable.

Adolescent↗

PubMed2001

Trabeculectomy with mitomycin C in the treatment of post-traumatic angle recession glaucoma.

AIM: The presence of traumatic angle recession is a risk factor for failure of glaucoma filtration surgery and a previous study has suggested that antimetabolite treatment should be used in these patients. This study was undertaken to determine for the first time the mid term results of trabeculectomy with intraoperative application of mitomycin C in patients with post-traumatic angle recession glaucoma. METHODS: A retrospective analysis was made of 43 consecutive trabeculectomy procedures in 41 young black/mixed race patients followed for a mean period of 25 months (range 2-66 months). Mitomycin C 0.02% was applied between the sclera and conjunctiva for 1-5 minutes at the time of surgery. The intraocular pressure and visual acuity were measured postoperatively. The success of this technique was analysed by using a Kaplan-Meier cumulative survival curve. RESULTS: The intraocular pressure was successfully controlled at last follow up without topical treatment in 77% (33/43 eyes) and the visual acuity was the same or better in 81% (35/43 eyes). Cumulative probability of success was 85% at 1 year follow up, 81% at 2 years, and 66% at 3 years and thereafter. Hypotonous maculopathy occurred in one patient and no cases of late bleb infection were found. CONCLUSIONS: In medically uncontrolled post-traumatic angle recession glaucoma trabeculectomy with mitomycin C is an effective surgical procedure with an acceptable complication rate. Good intraocular pressure control and preservation of vision can be expected in most patients.

Adolescent↗

PubMed2006

Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.

BACKGROUND: Mutilating sensory neuropathy with spastic paraplegia is a very rare disease with both autosomal dominant and recessive modes of inheritance. We previously mapped the locus of the autosomal recessive form to a 25 cM interval between markers D5S2048 and D5S648 on chromosome 5p. In this candidate interval, the Cct5 gene encoding the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (CCT) was the most obvious candidate gene since mutation in the Cct4 gene encoding the CCT delta subunit has been reported to be associated with autosomal recessive mutilating sensory neuropathy in mutilated foot (mf) rat mutant. METHODS: A consanguineous Moroccan family with four patients displaying mutilating sensory neuropathy associated with spastic paraplegia was investigated. To identify the disease causing gene, the 11 coding exons of the Cct5 gene were screened for mutations by direct sequencing in all family members including the four patients, parents, and six at risk relatives. RESULTS: Sequence analysis of the Cct5 gene revealed a missense A492G mutation in exon 4 that results in the substitution of a highly conserved histidine for arginine amino acid 147. Interestingly, R147 was absent in 384 control matched chromosomes tested. CONCLUSION: This is the first disease causing mutation that has been identified in the human CCT subunit genes; the mf rat mutant could serve as an animal model for studying these chaperonopathies.

Amino Acid Sequence↗

PubMed2003

Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.

The genetic basis of non-syndromic autosomal recessive forms of amelogenesis imperfecta (AI) is unknown. To evaluate five candidate genes for an aetiological role in AI. In this study 20 consanguineous families with AI were identified in whom probands suggested autosomal recessive transmission. Family members were genotyped for genetic markers spanning five candidate genes: AMBN and ENAM (4q13.3), TUFT1 (1q21), MMP20 (11q22.3-q23), and KLK4 (19q13). Genotype data were evaluated to identify homozygosity in affected individuals. Mutational analysis was by genomic sequencing. Homozygosity linkage studies were consistent for localisation of an AI locus in three families to the chromosome 4q region containing the ENAM gene. ENAM sequence analysis in families identified a 2 bp insertion mutation that introduced a premature stop codon in exon 10. All three probands were homozygous for the same g.13185_13186insAG mutation. These probands presented with a generalised hypoplastic AI phenotype and a class II openbite malocclusion. All heterozygous carriers of the g.13185_13186insAG mutation had localised hypoplastic enamel pitting defects, but none had AI or openbite. The phenotype associated with the g.13185_13186insAG ENAM mutation is dose dependent such that ARAI with openbite malocclusion segregates as a recessive trait, and enamel pitting as a dominant trait.

Amelogenesis Imperfecta↗