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At least 199 records · Page 11Linked to original sources

Unilateral superior rectus recession for the treatment of dissociated vertical deviation.

The management of dissociated vertical deviation (DVD) is an unsettled issue. Several authors have advocated bilateral superior rectus recession for all patients with DVD unless a dense amblyopia is present in the nonfixating eye. Our experience suggested that DVD was being successfully treated with unilateral bilateral superior rectus recession. We reviewed the charts of 57 patients who underwent graded unilateral superior rectus recession and 10 patients who had bilateral superior rectus recession for the treatment of DVD. DVD, a manifest deviation, was considered as distinct from occlusion hyperphoria, a latent deviation present only under cover. Of the patients who underwent unilateral superior rectus recession, only six developed a significant (14 prism diopters or more) DVD in the unoperated eye. The presence of any DVD in the unoperated eye appeared to be predictive of an unacceptable postoperative deviation (15 times greater chance, P less than .001). Patients with an occlusion hyperphoria in the unoperated eye showed no increased propensity to develop a significant DVD following surgery. The results of bilateral surgery were disappointing. Eight of ten patients had residual DVD in one or both eyes of 10 delta or greater. Our results suggest that unilateral surgery is an effective treatment of DVD in patients with a manifest deviation in only one eye. Although neither unilateral nor bilateral surgery was entirely satisfactory for the treatment of bilateral DVD, we recommend bilateral superior rectus recession for these patients.

Adolescent↗

Insertion site dynamics and histology in a rabbit model after conventional or suspension rectus recession combined with ipsilateral antagonist resection.

We have used a rabbit model to study insertion movement, rotational forces, disinsertion forces, and histology of the surgically created insertion site after recession of the inferior rectus (IR) using a conventional (CONV) or suspension (SUS) technique combined with an ipsilateral superior rectus (SR) resection. During the 5-week observation period, the CONV and SUS recessed IR showed an initial posterior movement followed by an anterior movement while all resected SR had an initial posterior movement which remained stable. SR rotational forces increased and IR remained constant throughout the 5-week observation period. There were no rotation force differences between the SUS and CONV recession techniques. Disinsertion forces showed an initial large decrease in force followed by a gradual increase to preoperative levels by 3 postoperative weeks. Disinsertion force differences between the CONV and SUS recessions were observed for 5 weeks after surgery. Histologic analysis showed a delayed inflammatory response on the SUS recession compared to the CONV recession and at the middle of the insertion compared to the poles which was minimized by 3 weeks after surgery.

Animals↗

[Clinical study of the relationship between the lateral recesses and the nerve roots].

To explicate the relationship and the clinical signification between the normal or narrow lateral recesses and the nerve roots, we measured the diameter of the entrans zone of the lateral recess, the interval between the upper articular processes and the interval between the nerve root and ab line on 50 normal cases, 43 narrow cases and 32 stenosis cases with VIDS image analysis system. The results showed that the nerve root was in the center side of the ab line in the normal station, with the degrees of the degeneration and cohesion ncreasing, the nerve root was in the lateral recess side of the ab line, and was compressed by the lateral recess. The authors considered that the real clinical signification of the entrance zone of the lateral recess was danger to the nerve root, but the deciding factors were the degrees of the degeneration and cohesion of the upper articular processes. The pathological conditions that resulted in the stenosis of the lateral recess and dangered the nerve root such as disc, flavum ligament and posterior port of the fibra ring were discussed in the article.

Adult↗

Anglo- and Mexican-American preschoolers at home and at recess: activity patterns and environmental influences.

Habitual physical activity in children is related to physical fitness and appears to mediate cardiovascular disease (CVD) risk factors. We studied the physical activity patterns and associated variables of a large bi-ethnic cohort of 4-year-old children from low to middle socioeconomic families. Trained observers coded the behavior of 351 children (150 Anglo-American, 201 Mexican-American; 182 boys, 169 girls) during two 60-minute home visits and two unstructured recesses lasting up to 30 minutes each at 63 different preschools. Findings indicated that although children were much less active at home, there were low but significant correlations between their activity patterns at home and during recess (r = .13). Children who had activity-promoting toys at home also tended to have them available during preschool recess (r = .20). Ethnic differences were evident for both activity and environmental variables. Mexican-American children were less active than Anglo children at home (p less than .002) and during recess (p less than .03), thus adding to the adult literature that has found Mexican-Americans to be less active than Anglos, and supporting to the notion that physical activity life-style habits may be established in early childhood. In both settings, Mexican-American children spent more time in presence of adults (home, p less than .04; recess, p less than .03) and had access to fewer active toys (home, p less than .001; recess, p less than .05). Gender differences were also evident for both activity and environmental variables.(ABSTRACT TRUNCATED AT 250 WORDS)

California↗

Graded unilateral supramaximal medial rectus recession for moderate angle esotropia.

BACKGROUND AND PURPOSE: Recession of a single medial rectus muscle may be appropriate for certain cases of esotropia. However, the procedure has not been widely accepted nor widely studied, and most reports have dealt with conventional recessions (3.5-6 mm) for small angle esotropia. We reviewed our patients who underwent unilateral supramaximal (6-8 mm) medial rectus recession for both small and medium angle esotropia. DESIGN: Observational case series. METHODS: The records of 56 consecutive patients, undergoing single eye muscle surgery for esotropia, ranging in age from 1 to 11 years were selected and analyzed. All patients had a constant esotropia, despite full cycloplegic refractive correction, measuring 15-40 prism diopters (mean=25.82) at distance and 18-45 prism diopters (mean=30.71) at near. Each patient underwent a graded unilateral medial rectus recession of 6-8 mm. RESULTS: 48/56 (86%) patients achieved "successful" binocular motor alignment (defined as 0-8 prism diopters residual esotropia at the most recent postoperative visit with a minimum of 5 months and an average of 32 months postoperative followup). The average unilateral medial rectus recession performed was 7.4 mm. Five patients (9%) were overcorrected, (defined as any amount of consecutive exodeviation). CONCLUSION: Unilateral supramaximal medial rectus recession appears to be a safe and effective treatment for medium angle non-accommodative esotropia, and has advantages for both patient and surgeon.

Child↗

Urethral recess in male goats, sheep, cattle, and swine.

A recess of the urethra formed by a fold of tissue containing the ducts of the bulbourethral glands in male goats, cattle, sheep, and swine was investigated by anatomic dissection. The shape, size, and location of the fold and recess are described, along with their relationship to the ducts of the bulbourethral glands. The fold and recess in male ruminants are compared with those in male swine. Clinicians should be aware of the recess, because it may block the passage of a urethral catheter into the lumen of the bladder. They also should be aware of the possibility of a urethral recess in any animal species that has a fibroelastic-type penis. The fold that creates the recess may function as a check valve to aid in evacuation of the small diameter urethra found associated with that type of penis.

Animals↗

Comparison between adjustable and non-adjustable hang-back muscle recession for concomitant exotropia.

We compared the results of strabismus surgery using adjustable and non-adjustable hang-back muscle recessions in 38 patients having concomitant exotropia. The two groups were matched for age of the patient, type of concomitant exotropia, amount of deviation, and type and amount of muscle surgery. At 6 months follow-up, 18 of the 19 patients (95%) in the adjustable hang-back recession group and 17 of the 19 patients (90%) in the non-adjustable hang-back recession group had ocular alignment within 10 prism diopters (PD) of orthophoria. At the most recent follow-up (mean 3.4 years), 12 of the 13 patients (92%) in adjustable hang-back recession group and 12 of the 14 patients (86%) in non-adjustable hang-back recession group had ocular alignment within 10 PD of orthophoria. There was no statistically significant difference in success rates between the two groups at 6 months postoperatively and at the most recent follow-up. This preliminary study suggests that non-adjustable hang-back muscle recession can be considered for routine concomitant exotropia.

Adolescent↗

Comparison of conventional and micro-surgical techniques for gingival recession using collagen matrix: Randomised controlled split-mouth clinical trial.

BACKGROUND: The present study aimed to determine the effectiveness of the microsurgical approach in treating gingival recession with collagen matrix by comparing it with Conventional surgery in terms of clinical and patient-centered outcomes. METHODS: A total of 29 patients with bilateral gingival recession in the maxillary canine and/or premolar region were selected. After randomisation, bilateral recession sites were grouped into the test group (Microsurgery under 3.5 X magnification) and the control group (Conventional surgery). All the clinical and patient-reported parameters were recorded at baseline, 1, 3 and 6 months. RESULTS: Both groups showed statistically significant differences in terms of reduction in gingival recession height (GRH), gingival recession width (GRW), clinical attachment level gain (CAL gain), increase in keratinized tissue thickness (KTT) and keratinized tissue width (KTW) after 6 months. But intergroup comparison showed no significant difference in terms of clinical parameters. The only significant difference was noted in terms of patient-centred parameters (Patient satisfactory score, Hypersensitivity score, Root aesthetic scores), which favoured the microsurgical group. CONCLUSIONS: Both groups demonstrated comparable clinical improvement; However, Patient-centred parameters were significantly better with the Microsurgical approach. Selection of the surgical approach should balance patient needs with practical considerations like cost, time, and clinician proficiency.

Adult↗

Estimated number of loci for autosomal recessive severe nerve deafness within the Israeli Jewish population, with implications for genetic counseling.

Deafness occurs in about 1 per thousand live births, and at least 50% of congenital deafness is hereditary. The aim of this study was to examine the number of loci for recessively inherited severe nerve deafness of early onset within the Israeli population and to compare the results to those obtained in other populations. The Jewish population in Israel originates from many countries and may be divided into Sephardi, Eastern and Ashkenazi Jews, and the matings will be intraethnic or interethnic. Data were obtained on 133 deaf couples who lived in the Tel Aviv area, through the files of the Helen Keller Center. Causes of deafness in the spouses were studied and data on their children were obtained. Among 111 couples who had recessive or possibly recessive deafness and had at least 1 child, there were 12 with only deaf children and 5 with both deaf and hearing children. The number of loci for recessive deafness in the whole group was estimated at 8-9. Intraethnic and interethnic matings gave an estimate of 6.7 and 22.0 loci, respectively, which indicates that within populations fewer loci exist with recessive mutations for deafness than between populations. It could be shown that the sharing of loci between spouses decreased with increasing geographical distance of their origin. The results provide data for genetic counseling in Israel for deaf couples who have no children or have one hearing or one deaf child.

Chromosome Mapping↗

The genotypic distribution of shared-epitope DRB1 alleles suggests a recessive mode of inheritance of the rheumatoid arthritis disease-susceptibility gene.

OBJECTIVE: To test whether the genotypic distribution of rheumatoid arthritis (RA)-associated DRB1 alleles suggests that the DRB1-associated disease-susceptibility gene has a recessive or additive (dominant) mode of inheritance. METHODS: Caucasian patients with RA and control subjects were recruited from a faculty outpatient practice. DRB1 typing was done by several DNA-based techniques: polymerase chain reaction (PCR), followed by dot-blot hybridization with sequence-specific oligonucleotides, conventional and PCR-based restriction fragment length polymorphisms (RFLPs), and a multiplex amplification-refractory mutation RFLP system. The genotypic distribution of shared-epitope DRB1 alleles was analyzed by antigen genotype frequency among patients. The analytical method postulates a linkage-disequilibrium model with a disease locus close to a marker locus and a marker allele in linkage disequilibrium with the disease-susceptibility allele. In this instance, the marker allele was defined alternatively by any DR4-group allele, by any DR4-group or DR1-group allele, by any DR4-group shared-epitope allele, by any DR4-group shared-epitope allele plus DRB1*0101, or by any shared-epitope DRB1 allele. Observed numbers were compared with those predicted for recessive mode or additive (dominant) mode of inheritance of the DRB1-associated RA disease-susceptibility gene. RESULTS: The genotypic distribution of shared-epitope DRB1 alleles (DRB1*0401, *0404, *0405, *0408, *0101, *0102, or *1001) fit that predicted for a recessive mode of inheritance and was significantly different from that predicted for an additive (dominant) mode. When the analysis was restricted to shared-epitope DR4 alleles alone (DRB1*0401, *0404, *0405, or *0408), the observed genotype numbers fit the recessive mode best. When DR1-group alleles were added to DR4-group alleles, or alternatively, when the major shared-epitope DR1 allele (*0101) was added to DR4-group shared-epitope alleles, there was a less significant deviation from the additive mode of inheritance. The reason for this was derived by comparison of observed genotype frequencies to those expected under Hardy-Weinberg equilibrium; there was a deficit of persons with DRB1*0401, *0101 and an excess of *0101,X. CONCLUSION: The genotypic distribution of shared-epitope DRB1 marker alleles suggests that the mode of inheritance of the DRB1-associated disease susceptibility gene must be recessive and not additive (dominant).

Adult↗

D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype.

More than 100 different heterozygous mutations in copper/zinc superoxide dismutase (SOD1) have been found in patients with amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease. Uniquely, D90A-SOD1 has been identified in recessive, dominant and apparently sporadic pedigrees. The phenotype of homozygotes is stereotyped with an extended survival, whereas that of affected heterozygotes varies. The frequency of D90A-SOD1 is 50 times higher in Scandinavia (2.5%) than elsewhere, though ALS prevalence is not raised there. Our earlier study indicated separate founders for recessive and dominant/sporadic ALS and we proposed a disease-modifying factor linked to the recessive mutation. Here we have doubled our sample set and employed novel markers to characterise the mutation's origin and localise any modifying factor. Linkage disequilibrium analysis indicates that D90A homozygotes and heterozygotes share a rare haplotype and are all descended from a single ancient founder (alpha 0.974) c.895 generations ago. Homozygotes arose subsequently only c.63 generations ago (alpha 0.878). Recombination has reduced the region shared by recessive kindreds to 97-265 kb around SOD1, excluding all neighbouring genes. We propose that a cis-acting regulatory polymorphism has arisen close to D90A-SOD1 in the recessive founder, which decreases ALS susceptibility in heterozygotes and slows disease progression.

Amino Acid Substitution↗

CuZn-superoxide dismutase in D90A heterozygotes from recessive and dominant ALS pedigrees.

Mutations in CuZn-superoxide dismutase (CuZn-SOD) have been linked to ALS. In most cases ALS is inherited as a dominant trait and there is marked reduction in CuZn-SOD activity in samples from the patients. The D90A mutation, however, mostly causes ALS as a recessive trait and shows near normal CuZn-SOD activity. A few familial and sporadic ALS cases heterozygous for the D90A mutation have also been found. Haplotype analysis of both types of D90A families has suggested that all recessive cases share a common founder and may carry a protective factor located close to the D90A mutant CuZn-SOD locus. To search for effects of a putative protective factor we analysed erythrocytes from D90A heterozygous individuals for SOD activity by a direct assay, subunit composition by immunoblotting, and zymogram pattern formed by isoelectric focusing and SOD staining. Included were heterozygotes from 17 recessive families, and from 2 dominant families and 4 apparently sporadic cases. The CuZn-SOD activity in the recessive and dominant groups was found to be equal, and 95% of controls. The ratio between mutant and wildtype subunits was likewise equal and 0.8:1 in both groups. The zymograms revealed multiple bands representing homo- and heterodimers. There were, however, no differences between the groups in patterns or in ratios between the molecular forms. In conclusion we find no evidence from analyses in erythrocytes that the putative protective factor in recessive families acts by simply downregulating the synthesis or altering the molecular structure or turnover of the mutant enzyme.

Amyotrophic Lateral Sclerosis↗

X-recessive angiopathic opticopathy.

A familial optic atrophy with X-recessive heredity, distinct from Leber's optic atrophy (LOA), is described. The symptoms are: slight to moderate pallor of the papillomacular bundle at the disc possibly preceded by some hyperaemia of the disc, telangiectasia on the disc with normal retinal vessels, occurrence in the second decade of life, slow progression with often subclinical visual loss, a small relative central scotoma with an intact peripheral visual field, slight acquired tritanopia and deuteranopia, and vasomotor headaches. The disease may exhibit severe exacerbations with loss of vision to 1/60, provoked by vasoconstrictors and reacting favourably to vasodilators. This acute loss of vision is associated with ischaemia of the disc, a deep central scotoma with marked disturbance of colour vision in the form of an acquired deuteranopia, and sensoparalytic pupils. This is followed by increasing pallor of the disc, slow resolution of the central scotoma with a permanent reduction in the central light sensitivity, markedly disturbed Visual Evoked Potentials (VEP), acquired deuteranopia and normal ERG and EOG. In contrast to all hereditary opticopathies so far described, fluorescein angiography showed a disturbance of perfusion in the peripapillary choroid and the prelaminar part of the optic nerve. A similar disturbance of perfusion is described in anterior ischaemic optic neuropathy (AION) and low-tension glaucoma. To these acquired, non-hereditary recessive vascular opticopathies, which usually occur late in life, will have to be added the X-recessive vascular optic atrophy which we describe here, for which we propose the name: X-recessive angiopathic opticopathy. The differential diagnosis from some other hereditary, especially X-recessive, optic atrophies is discussed.

Adolescent↗

Localization of a novel recessive powdery mildew resistance gene from common wheat line RD30 in the terminal region of chromosome 7AL.

Segregation analysis of resistance to powdery mildew in a F(2) progeny from the cross Chinese Spring (CS) x TA2682c revealed the inheritance of a dominant and a recessive powdery mildew resistance gene. Selfing of susceptible F(2) individuals allowed the establishment of a mapping population segregating exclusively for the recessive resistance gene. The extracted resistant derivative showing full resistance to each of 11 wheat powdery mildew isolates was designated RD30. Amplified fragment length polymorphism (AFLP) analysis of bulked segregants from F(3)s showing the homozygous susceptible and resistant phenotypes revealed an AFLP marker that was associated with the recessive resistance gene in repulsion phase. Following the assignment of this AFLP marker to wheat chromosome 7A by means of CS nullitetrasomics, an inspection of simple sequence repeat (SSR) loci evenly spaced along chromosome 7A showed that the recessive resistance gene maps to the distal region of chromosome 7AL. On the basis of its close linkage to the Pm1 locus, as inferred from connecting partial genetic maps of 7AL of populations CS x TA2682c and CS x Virest ( Pm1e), and its unique disease response pattern, the recessive resistance gene in RD30 was considered to be novel and tentatively designated mlRD30.

Ascomycota↗

The relation between reaction kinetics and mutagenic action of mono-functional alkylating agents in higher eukaryotic systems. I. Recessive lethal mutations and translocations in Drosophila.

The relationship in Drosophila males between chemical reaction pattern of mono-functional alkylating agents (AA), described in terms of primary alkylation pattern with DNA and proteins as well as the Swain--Scott s factor, and their biological effectiveness were investigated. The agents chosen for comparative analysis were the nitrosamides ENU and MNU, the methanesulfonic esters iPMS, EMS and MMS, the dialkylsulfate DMS, and the nitrosamines DEN and DMN. Parameters of their biological activity were mortality (LC50) of treated adult males, induction in post-meiotic stages of X-chromosomal recessive lethal mutations and 2--3 translocations after either adult feeding or injection. Induced frequencies of recessive lethals, determined for each AA with a range of concentrations, served as biological dosimeter for interaction with target DNA in the germ line. The results are interpreted as indicating for these AA a causal connection between the pattern of primary alkylation of DNA and the quality of genetic damage observed. 1. The agent with the lowest s value, ENU, and its pendant DEN, failed to produce translocations at mutation frequencies that reached 44% for ENU. The highest chromosome-breaking activity was attributed to AA with high s, MMS and DMS. For MMS, the proportions of translocations (T) to mutations (M) approximately reached a 1 : 1 ratio in stored spermatozoa, at a recessive-lethal frequency of 14%. Ability to break chromosomes, as indicated by the T : M ratios, decreased in the sequence MMS greater than or equal to DMS, MNU greater than DMN greater than EMS greater than iPMS greater than ENU = DEN. 2. Nearly the reversed sequence in relative mutagenci effectivenss was obtained when the (directly acting) AA were arranged on the basis of their CM4/LC50 ratios (CM4, the exposure condition producing 4% recessive lethals after injection): ENU greater than EMS greater than iPMS, MNU greater than MMS = DMS. 3. Among the AA, EMS had a somewhat unique position, in that it was slightly less effective in the translocation test, and also less cytotoxic but more mutagenic in the recessive-lethal test than one would expect from its s value. This is taken as an indication of the influence on biological effectiveness of factors other than the s value, e.g. methylation versus ethylation and the lipid/water partition ratio. An example of the latter was also provided by DMS which, although having the same s as MMS, with its 5-fold higher lipid/water partition ratio, was more toxic than MMS. 4. For those AA that were clearly active in the translocation tests--MMS, DMS, MNU, DMN and EMS--delayed formation of exchanges was observed. Only in 17 out of 555 translocation tests with positive response translocations were already found in progeny from unstored spermatozoa. Consequently, it was concluded that performance of storage experiments in Drosophila is an absolute necessity for the detection of this type of rearrangement by AA. 5...

Alkylating Agents↗

UV-induced recessive lethals in uvs strains of Neurospora which are deficient in UV mutagenesis.

The frequencies of spontaneous and UV-induced recessive lethal mutations were compared for UV-sensitive and wild-type heterokaryons of Neurospora crassa. These heterokaryons were homokaryotic either for one of two alleles of uvs-3, or for uvs-6 or uvs+. For uvs-3, which is known to have mutator effects, spontaneous recessive lethals were found to be 4-6 times more frequent than observed in uvs+. After correction for clonal distribution of spontaneous mutants, an observed 2-fold increase for uvs-6 was not statistically significant and may have been due to chance occurrence of a few large clones of mutants. Treatment with low doses of UV (50-200 J/m2) produced very similar overall rates of increase for recessive lethals in uvs and uvs+ heterokaryons. This means, that in contrast to results obtained when mutation to ad-3 was measured, both uvs-3 alleles showed highly significant increases for recessive lethals when treated with UV. It is proposed that certain types of UV damage may be processed into recessive lethal mutations by an alternate mechanism from that responsible for viable mutations.

Genes, Fungal↗

Induction of sex-linked recessive lethals and autosomal translocations by beta-propiolactone in Drosophila: influence of the route of administration on mutagenic activity.

Beta-propiolactone (BPL) was tested for the induction of sex-linked recessive lethals and autosomal translocations in Drosophila melanogaster. The compound was administered to adult males either by oral application or by abdominal injection. When injected, BPL was a potent inducer of sex-linked recessive lethals. When BPL was given by feeding, its mutagenic activity was detectable only when the flies were starved and when the BPL-containing solutions were renewed several times. Nevertheless, the recessive-lethal frequency was one order of magnitude higher with injection. This difference in effects is attributed to (1) rapid decomposition of the compound in aqueous feeding solutions, and to (2) rapid degradation in vivo which restricts the activity of BPL mainly to the site of application. These data are compared with other studies in which both routes of application were applied. BPL induced translocations in stored spermatozoa when injected, but not when fed. This finding seems a logical consequence of (1) the difference in effectiveness of the two routes of application for BPL, and (2) the existence of different LECs for mutation induction (recessive lethals) and for chromosome breakage (translocations). In Drosophila, the breakage capacity of BPL was one order of magnitude lower than that of MMS, when a comparison was made on the basis of equal recessive-lethal frequencies.

Administration, Oral↗

Co-recessive inheritance: a model for DNA repair and other surveillance genes in higher eukaryotes.

The co-recessive inheritance hypothesis proposes that certain recessively inherited diseases require homozygosity and/or hemizygosity for defective alleles at more than one locus simultaneously for the trait to be expressed. Although this hypothesis was originally proposed in the context of defective alleles for genes coding for DNA-repair functions, it need not be limited to this context, and genetic selection pressure may favor this model for genes involved in surveillance of any type. The co-recessive inheritance hypothesis also predicts extremely high carrier frequencies, likely affecting much of the general population, for defective alleles associated with these rare recessive diseases. The model predicts much lower rates of consanguinity between the parents of affected individuals than autosomal recessive inheritance, allowing it to be tested epidemiologically, and recent data suggest that the hypothesis may be valid for some cases of ataxia telangiectasia and xeroderma pigmentosum. The model provides possible explanations for a number of otherwise puzzling findings in several diseases associated with defective DNA repair.

Animals↗