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At least 307 records · Page 17Linked to original sources
PubMed1999

Overcorrection after adjustable suture suspension- recession of the inferior rectus muscle in non-thyroid eye disease.

BACKGROUND AND PURPOSE: To assess the comparative risk of overcorrection in non-thyroid eye disease for adjustable suspension vs traditional recession surgery. To determine the ideal initial postop' binocular alignment for adjustable suture surgery. METHODS: Retrospective analysis of records of 31 patients. Thyroid eye disease excluded. All had inferior rectus recessions by either adjustable suspension-recession suture technique (20 patients) or traditional fixed recession technique (11 patients). RESULTS: None of 11 patients in the traditional recession group were overcorrected, one was undercorrected. Five of 20 patients who had adjustable suspension sutures had overcorrections which ranged from 6 to 18 prism diopters (PD), mean 12 PD. Two adjusted patients required additional surgery for their overcorrections. Statistical analysis of difference: 1/11 or 9.1% vs 5/20 or 25%, p=0.38. (="clinically/medically significant" for this study). CONCLUSIONS: Overcorrection is more frequent with the postop' adjustable suspension suture technique. If postop' adjustment is made, undercorrection is recommended.

Eye Movements↗
PubMed1976

[Methods for mucogingival surgery and its results in gingival recession].

Muco-periosteal pedicle flaps, free mucosal transplants as well as a combination of these two methods may be used for treating gingival recessions. The method selected and the therapeutical success depend on whether or not the interdental gingiva is also affected. From this viewpoint, three different types of recessions can be distinguished. Type I recessions with intact interdental gingiva on both sides can successfully be treated by all methods. In type II recessions with partial loss of the interdental gingiva on one side, free transplants as well as their combination with sliding flaps show the best results. Recessions at two adjacent teeth with loss of the interdental gingiva (type III) can only be treated with free mucosal transplants. Prognosis of successful treatment diminished from type I to type III.

Gingival Diseases↗
PubMed2000

Selective management of double elevator palsy by either inferior rectus recession and/or knapp type transposition surgery.

BACKGROUND AND PURPOSE: Double elevator palsy (DEP) is a monocular elevation deficiency in abduction and adduction characterized by hypofunction of the superior rectus (SR) and inferior oblique muscles. Only a limited number of studies are published on the management of this problem. Therefore, we studied and report and add our experience with emphasis on the indications and types of surgery for DEP. PATIENTS AND METHODS: The records of 18 patients with DEP out of 3612 strabismic cases (0.5%) were reviewed. Fourteen underwent surgery. Inferior rectus (IR) recession was performed in cases with positive forced ductions (Group 1, n=6). In patients with negative forced duction test (Group 2, n=8) and in patients whose vertical deviation was not corrected with IR recession, transposition surgery (Knapp or modified Knapp procedure) was performed. A hypotropia of less than 5 PD postoperatively was considered a "successful" outcome. RESULTS: In Group 1, "IR recession only", the mean preoperative vertical deviation was 29.2 PD +/-3.8 PD SD. The vertical deviation was adequately corrected after IR recession in only one patient; the other 5 patients then underwent transposition surgery at 6 months postop'. After the second operation, the mean corrected deviation for Group 1 overall was 25.8 PD +/-5.6 PD with an overall 33% surgical success rate. In Group 2, "primary transpositions", the mean preoperative vertical deviation and the mean corrected deviation were 23.9 PD +/-6.7 PD and 18.6 PD +/-4.4 PD respectively, and the surgical "success" rate was 63%. The mean corrected deviation for all cases was 21.7 PD +/-4. 9 PD and the overall surgical "success" rate was 57%. CONCLUSION: Surgical intervention should be selective according to DEP clinical features. The surgical effect of transposition surgery may be enhanced by IR recession.

Adolescent↗
PubMed1998

[The relationship of facet orientation to intervertebral disc protrusion and lateral recess stenosis in lower lumbar spine].

OBJECTIVE: To investigate the relationship of facet orientation to intervertebral disc protrusion and lateral recess stenosis in lower lumbar spine. METHOD: The relationship between facet geometry (joint angle and tropism) and disc protrusion, lateral recess stenosis was investigated with computer tomography (CT) at the vertebral levels L(3 - 4), L(4 - 5), and L(5) - S(1). 772 facet joint angles (386 lower lumbar levels of 136 patients) were measured on coronal CT scans by transverse inter-facet angle (TIFA). RESULT: There was no statistically significant relationship between facet joint asymmetry and disc protrusion (P > 0.05). Disc protrusion occurred more frequently on side of sagittally oriented facet joint than coronal side (P < 0.01). The patients whose lumbar transverse inter-facet angle less than 20 degrees easily suffered from degenerative lumbar lateral recess stenosis in the elderly. The TIFA in Asian less evident than in European may be the important cause for high incidence of lumbar lateral recess syndrome in Asia. CONCLUSION: Stress on the lower lumbar spine leads to disc protrusion. No association is found between facet joint asymmetry and lumbar disc protrusion. The asymmetry of facet joint will influence the direction of intervertebral disc protrusion at level from L(4) - S(1). The patient whose lower lumbar spine inter-facet angle may unlikely suffer from degenerative lumbar lateral recess stenosis.

Adolescent↗
PubMedDate not supplied

A randomized control trial of surgical task performance in frontal recess surgery: zero degree versus angled telescopes.

The use of angled telescopes in frontal recess surgery has the theoretical advantage of improved visualization in areas characterized by reduced access such as the frontal recess. However, their use also is accompanied by the disadvantage of increased visuospatial distortion. To examine the surgical error and task performance of angled telescopes when compared with the use of the 0 degree telescope in frontal recess surgery, we carried out a surgical controlled trial on a cadaveric specimen. Ten surgeons performed randomly predetermined surgical tasks on both sides of the frontal recess. The surgical tasks were divided into three components (passing, grasping, and withdrawing) for analysis. Our study revealed significant difficulty passing instruments with the highly angled 70 degrees telescope as implied by the increased passing time ratio (p = 0.000). This was associated with significant risk of passing instruments blindly (p = 0.011), resulting in significant surgical error of hits to the middle turbinate (p = 0.005). This study also showed that use of less-angled telescopes (30 and 45 degrees) in frontal recess surgery does not appear to be associated with these risks.

Cadaver↗
PubMedDate not supplied

Unilateral and bilateral lateral rectus recession in exotropia.

BACKGROUND AND OBJECTIVE: To evaluate the surgical results obtained by unilateral and bilateral lateral rectus recession for the correction of exotropia. PATIENTS AND METHODS: The charts of all patients with exotropia who were operated on at the Goldschleger Eye Institute at Sheba Medical Center during an 11-year period were retrospectively reviewed. Study participants all underwent a complete orthoptic and ocular examination. Twenty-five patients with moderate-angle exotropia underwent unilateral lateral rectus recession (group 1) and 38 patients with large-angle exotropia underwent bilateral lateral rectus recession (group 2). The angle of exotropia was measured by the prism and cover test. Moderate exotropia was defined as 25 prism diopters (PD) and large-angle exotropia as greater than 25 PD. RESULTS: The mean age at the time of the surgery was 10.0+/-5.2 years in group 1 and 8.5+/-8.0 years in group 2. The mean preoperative exotropia was 16.1+/-5.7 PD in group 1 and 29.6+/-14.4 PD in group 2. A mean postoperative exodeviation of 4.2+/-5.4 PD was found in group 1 and 5.8+/-13.6 PD in group 2. The success rate (deviation of < 10 PD) was 84% in group 1 and 74% in group 2. There was no incomitance in group 1. CONCLUSION: Unilateral lateral rectus recession is an effective surgical method for correcting moderate-angle exotropia with results similar to bilateral lateral rectus recession for larger exotropia angles.

Adolescent↗
PubMed1998

Lateral and anterior view to tensor fold and supratubal recess.

HYPOTHESIS: The aim of this study was to find suitable methods for basic anatomic evaluation of the supratubal recess and the anterior surface of the tensor fold. BACKGROUND: The current method of superior microdissection via the middle fossa floor provides a good picture of the anatomy and pathology of the epitympanum, but the supratubal recess can be evaluated only after excision of the tensor fold. Postinflammation changes cannot be examined accurately because destruction of the tensor fold necessarily alters the anatomic details. METHODS: Eight temporal bones were studied via a lateral and 14 via an anterior approach, both complemented by the superior microdissection. Data on 51 earlier superior dissections were reevaluated as to the state of the supratubal recess. Histology was documented from eight biopsy specimens and of four serially sectioned temporal bones, two normal and two infected. RESULTS: The lateral route offered a good view to the tensor tendon and lower portion of the tensor fold, but the anterior malleal ligament obstructed the view to the fold's upper portion. The anterior route offered excellent visibility to the anterior pouch, mesotympanum, tensor fold, and the whole supratubal recess. The tensor fold was mostly fixed superiorly to the bony roof with a narrow or broad soft band of composite tissue, infrequently to the transverse crest directly. Inflammatory changes spread from the tympanic isthmus region to the supratubal space over the fold and, if extensive, formed broad inflammatory and scar tissue bands between the fold and the anterior bony wall. CONCLUSIONS: The supratubal recess and the mesotympanum can best be evaluated via the anterior approach, which should be added to the temporal bone microdissection program. It serves well as the starting route, followed by the conventional superior dissection of the epitympanum. The knowledge gained is indispensable in surgery for chronic otitis media for creation of a large common middle ear air space and functioning aeration pathways.

Culture Techniques↗
PubMed2003

Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia.

BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogenous disorder reported in Quebec caused by mutations in the SACS gene (chromosome 13q12). Recently, we identified a Tunisian kindred demonstrating linkage to the ARSACS locus. OBJECTIVE: To report clinical, neurophysiological, and nerve biopsy findings in patients with autosomal recessive cerebellar ataxia related to the SACS gene in Tunisia. PATIENTS AND METHODS: Genetic linkage analysis of patients with early-onset autosomal recessive cerebellar ataxia allowed the identification of 4 families from which 18 patients demonstrated linkage to the ARSACS locus. The patients were evaluated according to the International Cooperative Ataxia Rating Scale. Peripheral nerve conduction, sensory evoked potentials, and nerve biopsy were performed in most patients. RESULTS: The mean age at onset was 4.5 years. The clinical phenotype was stereotyped and associated with a progressive cerebellar syndrome, a pyramidal syndrome with brisk knee reflexes, and Babinski sign and absent ankle reflexes. The course of the disease varied among patients. Sensory evoked potentials showed severe posterior column involvement. Peripheral nerve investigations demonstrated axonal and demyelinating neuropathy. Four mutations, 2 missense and 2 nonsense, were found. CONCLUSION: In Tunisia, autosomal recessive cerebellar ataxia related to the SACS gene demonstrated a homogenous phenotype and heterogeneous allelic mutations.

Adolescent↗
PubMed1989

Autosomal recessive nonsyndromal profound childhood deafness in a large pedigree. Audiometric features of the affected persons and the obligate carriers.

Nonsyndromal autosomal recessive profound childhood deafness will affect about one in 4000 children in western Europe. A nonsyndromal autosomal recessive type of profound childhood deafness was thought to be the cause of deafness in at least eight and probably 12 children from a large family with various consanguineous matings and other family interrelations. Audiograms of all affected deaf children showed a profound childhood deafness with only a very slight variation. Audiometric examinations, such as pure-tone audiometry, high-frequency audiometry, stapedial reflexes, and Bekesy audiometry, of ten obligate or presumed carriers did not show any significant findings that would allow identification of carriers of this autosomal recessive gene. Families like this one seem to be very rare. Large clinically well-studied families like this one are indispensable for gene linkage studies of nonsyndromal autosomal recessive types of profound childhood deafness. Such studies should make it possible to trace the origin of these types of childhood deafness at an early age. In consequence, carrier detection should also become available.

Adult↗
PubMed2000

Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X.

Congenital long QT syndrome may be transmitted as either an autosomal dominant or recessive trait. Two families with the autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS), and one family with the autosomal dominant Romano-Ward syndrome (RWS) were evaluated for mutations in KCNQ1. Two different novel frameshift mutations were discovered in one of the JLNS families (1188delC) and in the RWS family (504delG). A third allele (R518X) was observed in the second JLNS family. The R518X allele was previously associated with recessive long QT syndrome without deafness, but was present in a congenitally deaf proband in our study. These data extend the range of known KCNQ1 mutations associated with both recessive and dominant forms of congenital long QT syndrome, and demonstrate that the R518X allele may be associated with or without congenital deafness.

Adolescent↗
PubMed1996

Engrailed gene dosage determines whether certain recessive cubitus interruptus alleles exhibit dominance of the adult wing phenotype in Drosophila.

The cubitus interruptus (ci) locus of Drosophila melanogaster is needed for normal development. Some mutants of this gene result in embryonic lethality, while others just disrupt adult wing veins. While undertaking a genetic screen for additional ci mutations that affect the wing veins, we recovered a modifier mutation on chromosome two that produced a ci phenotype in recessive ci heterozygotes (ci(recessive)/+). We identified the modifier mutation as an allele of engrailed and have called it engrailed-enhancer of cubitus interruptus (enEnci). As a double heterozygote (en-/+; ci-/+) this new en allele dominantly generates a ci wing vein phenotype. As a double heterozygote, it also enhances the ci wing vein phenotype of the dominant alleles ciW and ciCe2, but not ciD. Other loss-of-function en alleles also enhance the ci phenotype, with the en lethal alleles (and deletions) showing the strongest effect, while the homozygous viable en alleles show weaker enhancement. Strong en- alleles failed to induce a ci phenotype with heterozygotes of ci recessive lethal alleles l(4)13, l(4)17, or ciDrev, which are loss-of-function mutations. This supports a previous proposal that the ci wing vein phenotype is not due to loss of ci+ function, as would be expected for most recessive alleles. Instead, the adult wing vein abnormality is due to ectopic expression (or de-repression) of the ci transcript in the posterior compartment of the wing disc. We also observed that en-/+ heterozygotes could induce a ci phenotype in situations where the ci+ locus is either unpaired or hemizygous. Since loss of one en+ gene dose enhanced the ci phenotype, three doses of en+ were tested and found to suppress expression of the ci phenotype in ci1 homozygotes and ciW heterozygotes. These observations show that correct regulation of the ci gene involves more than the simple interaction of upstream regulatory elements. some pairing, pairing dependent gene repression, position effects.

Alleles↗
PubMed2000

Genetic disorders among Palestinian Arabs: 3. Autosomal recessive disorders in a single village.

Autosomal recessive diseases are common in the Arab population of Israel, mostly as a result of the high rate of consanguinity. They represent a major factor in the mortality and morbidity of the population. Since the distribution of genetic disorders in this population is not uniform, the present study was performed to determine the frequency and impact of recessive disorders within a single village. We demonstrate the existence of at least 19 autosomal recessive disorders in a village of about 8,600 inhabitants chosen at random. Since most of the disorders were chronic, the prevalence of recessive conditions in the village at the time of the study was at least 1/70, leading to a very high burden to the population and the health services.

Arabs↗
PubMed2002

Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

Nonsyndromic congenital microphthalmia or anophthalmia is a heterogeneous malformation with autosomal dominant, autosomal recessive, and X-linked modes of inheritance. Lenz microphthalmia syndrome comprises microphthalmia with mental retardation, malformed ears, skeletal anomalies, and is inherited in an X-linked recessive pattern. Prior studies have shown linkage of both isolated (or nonsyndromic) anophthalmos (ANOP1, [MIM 301590]) and Lenz syndrome [MIM 309800] to Xq27-q28. Nonsyndromic colobomatous microphthalmia [MIM 300345] has been linked to Xp11.4-Xq11.1. We describe a five-generation African-American family with microphthalmia or anophthalmia, mental retardation, and urogenital anomalies, in an X-linked recessive inheritance pattern, consistent with Lenz syndrome. Initial linkage analysis with microsatellite markers excluded the region in Xq27-q28 previously reported as a candidate region for ANOP1 [MIM 301590]. An X-chromosome scan revealed linkage to a 10-cM region between markers DXS228 and DXS992 in Xp11.4-p21.2. Multipoint analysis gave a maximum LOD score of 2.46 at marker DXS993. These data show that X-linked recessive syndromic microphthalmia exhibits genetic heterogeneity. In addition, it suggests that Lenz microphthalmia syndrome, previously thought to be a single disorder, may represent an amalgam of two distinct disorders.

Abnormalities, Multiple↗
PubMed1988

Congenital adrenal hypoplasia and selective absence of pituitary luteinizing hormone: a new autosomal recessive syndrome.

Congenital hypoplasia of the adrenal glands (CHA) is a rare condition, particularly in the absence of a central nervous system (CNS) anomaly. Two major types of CHA have been described in the setting of an apparently normal CNS and pituitary: a cytomegalic type usually with X-linked recessive inheritance and a miniature adult type that, when hereditary, is an autosomal recessive trait. Glycerol kinase deficiency (GKD) is an X-linked recessive trait, and it may be associated with CHA and adrenal insufficiency, presumably because of deletion of adjacent X-linked loci. We report on three sibling infants, one male and two females, with normal CNS and lethal CHA of the miniature adult type, selective absence of pituitary LH; two of the infants also had glycerol kinase (GK) activity that was decreased but not in the GKD range. Restriction fragment length polymorphism (RFLP) analysis of X chromosome markers located at Xp21-p22 was carried out on the maternal grandfather, both parents, two of three affected infants, and a living normal brother. The results excluded the X-linked type of this disorder associated with GKD in this family. Autosomal recessive inheritance is most likely.

Adrenal Glands↗
PubMed2003

Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario.

Several studies have reported that mutations in the GJB2 gene (coding for connexin26) are a common cause of recessive non-syndromic hearing impairment. A GJB2 mutant allele, 35delG, has been found to have a high prevalence in most ethnic groups. Though mutations in the GJB2 gene have been shown to cause autosomal recessive deafness in Indian families, the frequencies of the various mutations are still unknown. In the present study, we analyzed 45 Indian families belonging to three different states, namely, Karnataka, Tamil Nadu, and Delhi with non-syndromic hearing impairment and an apparently autosomal recessive mode of inheritance. All the families were initially screened for three mutations (W24X, W77X, and Q124X) by using allele-specific PCR primers; mutations were confirmed by DNA sequencing. Families that were heterozygous or negative for tested mutations of the GJB2 gene were sequenced directly to identify the complementary mutation and other mutations in GJB2. Four families were homozygous for W24X, constituting around 8.8%. In two families, the affected individuals were compound heterozygotes for W24X; one family (DKB16) carried 35delG with W24X while the other family (DKB7) carried R143W with W24X. We suggest that W24X is a common allele among the mutations screened, causing autosomal recessive non-syndromic hearing impairment (ARNSHI) in the Indian population.

Alleles↗
PubMed2005

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).

Autosomal recessive Weissenbacher-Zweymuller syndrome (WZS) is a skeletal dysplasia characterized by rhizomelic dwarfism and severe hearing loss. Mutations in the COL11A2 gene have been implicated in causing the autosomal dominant form of this syndrome as well as non-ocular Stickler syndrome and the autosomal recessive syndrome otospondylomegaepiphyseal dysplasia (OSMED). In a consanguineous Bedouin tribe living in Southern Israel, five individuals affected by autosomal recessive WZS were available for genetic analysis. Homozygosity of a mutation in the COL11A2 gene was found in all affected individuals. This finding lends molecular support to the clinical notion that autosomal recessive WZS and OSMED are a single entity.

Abnormalities, Multiple↗
PubMed1980

How many loci on the X-chromosome of Drosophila melanogaster can mutate to recessive lethals?

The sensitivity of the sex-linked recessive lethal test is due to the fact that a very large number of loci are included i the mutation study. From extensive studies on the spontaneous sex-linked recessive lethal frequency and spontaneous specific locus mutation rates, it is possible to derive an estimate of the number of loci included in the recessive lethal test. The average number derived from three estimates on male and female germ cells is 563 loci. A second independent approach derives from published data which analyzed short regions of he genome and the proportion of loci within these regions which mutate to lethality. This analysis suggests that 830 loci are potentially lethal mutables. We describe the reasons for concluding that 600 to 800 loci of the approximately 1,000 loci on the X-chromosome are involved in the X-linked recessive lethal test.

Animals↗
PubMed2007

Variability of the recessive oculopharyngeal muscular dystrophy phenotype.

Oculopharyngeal muscular dystrophy (OPMD) is usually transmitted as an autosomal-dominant trait and characterized by an expansion from 6 to 8 or more GCG/GCA repeats in the poly-(A) binding protein nuclear 1 (PABPN1) gene on chromosome 14q11. Autosomal-recessive OPMD with a homozygous (GCG)7 expansion of PABPN1 has only been described in two Canadian patients, who showed a comparably mild phenotype, suggesting that it is less severe than the dominant form. We clinically and genetically characterized the first two reported cases of autosomal-recessive OPMD in Europe. Remarkably, both patients revealed severe and diverse phenotypes, with an unusual onset and atypical clinical course in one patient. Former studies found a 1%-2% frequency of the (GCG)7 allele, which theoretically produces an incidence of 1:10,000 of autosomal-recessive OPMD in the general population. We conclude that the apparent rarity of the autosomal-recessive form of OPMD may be due to the fact that genetic testing is generally administered only to patients with typical clinical features or a positive family history.

Aged↗