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At least 469 records · Page 26Linked to original sources
PubMed1987

Correction of postoperative eyelid retraction with a simplified levator palpebrae superioris (LPS) muscle recession: analysis of a 10-year experience.

A simplified levator palpebrae superioris (LPS) muscle recession was performed to correct eyelid retraction in 56 eyelids of 48 patients. Improvement of preoperative keratopathy and cosmetically acceptable results were achieved in 93% of the eyelids. Based on preoperative surgical intervention, eyelids were divided into four groups: levator resection, levator aponeurosis advancement, surgery associated with dysthyroid ophthalmopathy, and miscellaneous reconstructive eyelid procedures. For each group the mean preoperative and postoperative eyelid levels, the mean change in eyelid level following surgery, and the mean amount of surgery performed were analyzed statistically with the two-tailed student's t-test. Linear regression was used to analyze the relationship between the change in eyelid level and the amount of levator recession performed. No significant relationship was demonstrated between eyelid retraction and dysthyroid ophthalmopathy or reconstructive eyelid surgery. However, a significant relationship was demonstrated between the amount of recession and the eyelid level change for eyelids retracted following levator resection (P less than .01) and levator aponeurosis surgery (P less than .05). This may indicate that the change in eyelid level following a simplified LPS recession in these two groups is predictable. However, additional prospective studies are required to further assess the clinical applicability and use of this finding.

Adolescent↗
PubMed1996

Powered instrumentation in dissection of the frontal recess.

The use of powered instrumentation in functional endoscopic sinus surgery has become very popular due to its safety and thoroughness. An area which has been more problematic in the use of this technique has been the frontal recess, due to its anatomic location and associated risk of serious complications. We have done a number of powered dissections of the frontal recess as a surgical treatment of refractory frontal sinusitis, and find that it is extremely safe and effective. The ability of the powered devices to preserve normal mucosa allows an adequate surgical approach while significantly decreasing the postoperative risk of frontal recess stenosis and reocclusion. We feel that powered dissection of the frontal recess offers a significant advantage over standard techniques in this anatomic location.

Endoscopy↗
PubMed1996

Within birth cohort segregation analyses support recessive inheritance of body mass index in white and African-American families.

OBJECTIVE: We conducted segregation analyses of body mass index within birth cohort to determine whether previously reported support for recessive major gene inheritance in white and African-American families could have been due to higher rates of obesity in offspring than in parents, which are caused by temporal increases in obesity in recent decades. DESIGN: Segregation analysis of family data. MEASUREMENT: The body mass index (BMI), adjusted for effects of gender, linear and non-linear effects of age, education and occupation of head of household, and clinic from which family was ascertained. RESULTS: Segregation analysis results support a recessive mode of major gene inheritance of body mass index, even though we restricted our analysis to siblings born within the same post-1945 cohort. We also found support for substantial polygenic heritability of body mass index, which is consistent with a multigenic heritability. There was no significant heterogeneity between white and African-American families in support for a recessive mixed model. However, some differences in particular parameters were found, with higher gene frequency, lower polygenic heritability and a larger variance associated with the major gene model in African-Americans. CONCLUSION: Our present segregation analysis shows that the recessive pattern, whether due to single or multiple genes, cannot be explained by inter-generational differences in obesity prevalence or family correlation. There was suggestive evidence of a higher major gene frequency and larger gene effect size in African-American families.

Black People↗
PubMed1997

Bimedial rectus recession using the anchored hang-back technique.

Hang-back recession of a rectus muscle offers several advantages over conventional techniques: a reduced risk of scleral perforation, easy intraoperative adjustment, and a convenient site for suturing to the sclera. There are also disadvantages: the muscle tends to collapse, thereby increasing the effective recession and making the result less predictable. In addition, the insertion cannot accurately be displaced upward or downward, as may be required to correct A- and V-patterns, or vertical deviations. The authors describe a modified technique, an anchored hang-back recession, and discuss the results in 60 consecutive cases of bimedial rectus recession.

Amblyopia↗
PubMedDate not supplied

The anterior epitympanic recess: CT anatomy and pathology.

PURPOSE: To describe the variation in size and shape of the anterior epitympanic recess and to discuss pathologic processes that affect this space. METHODS: Axial CT scans of the temporal bones of 31 adults and 19 children were reviewed retrospectively to ascertain the morphology and size of the anterior epitympanic recess. Selected confirmed disease processes involving this space were studied. RESULTS: The anterior epitympanic recess, which is consistently identified on axial CT scans, is either single or multicelled. In our study, it was made up of a solitary cell in 61 of 100 ears. Side-to-side symmetry in shape was present in 78 of 100 cases. The size of a solitary air cell ranged from 1.0 to 7.0 mm. CONCLUSIONS: The configuration of the anterior epitympanic recess is readily affected by a persistent stapedial artery, by facial nerve schwannomas, by hemangiomas of the facial nerve canal in the geniculate region, and by congenital and acquired cholesteatomas. Familiarity with the CT anatomy of this space facilitates recognition of these pathologic processes at an early stage.

Adolescent↗
PubMed1996

Gonadal (ovarian) dysgenesis in 46,XX individuals: frequency of the autosomal recessive form.

Gonadal (ovarian) dysgenesis with normal chromosomes (46,XX) clearly is a heterogeneous condition. In some forms, the defect is restricted to the gonads, whereas other affected females show neurosensory hearing loss (Perrault syndrome). In another form, brothers may have germ cell aplasia [Granat et al., Fertil Steril 1983; 40:215-219]. Nongenetic causes exist as well. To elucidate the proportion of XX gonadal (ovarian) dysgenesis due to autosomal recessive genes, we analyzed published (N = 17) and unpublished (N = 8) families having at least two female offspring. Analysis was restricted to cases in whom ovarian failure was documented by the presence of streak ovaries (published cases) or elevated gonadotropins (unpublished cases). We reasoned that the closer to that segregation ratio expected for an autosomal recessive trait (0.25), the lower the frequency of nongenetic forms. Segregation analysis utilized standard correction for single ascertainment, with only females included in the preliminary analysis. The segregation ratio estimate was 0.16. Our results suggest that many 46,XX females with gonadal (ovarian) dysgenesis represent a disorder segregating as an autosomal recessive trait, placing sisters of these cases at a 25% risk for this disorder.

Female↗
PubMed1999

Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.

The Sanjad-Sakati syndrome (SSS; MIM241410), an autosomal recessive trait characterized by congenital hypoparathyroidism, growth and mental retardation, seizures, and a characteristic physiognomy, was recently linked to chromosome area 1q42-q43. SSS resembles the autosomal recessive form of Kenny-Caffey syndrome (KCS; MIM244460), with similar manifestations but lacking osteosclerosis. Since KCS was recently linked to the region 1q42-q43, the possibility that this disorder is allelic with SSS was considered. Eight Sanjad-Sakati families from Saudi Arabia were genotyped with polymorphic short tandem repeat markers from the SSS/KCS critical region. A maximum multipoint LOD score of 14.32 was obtained at marker D1S2649, confirming linkage of SSS to the same region as autosomal recessive KCS. Haplotype analysis refined the critical region to 2.6 cM and identified a rare haplotype present in all the SSS disease alleles, indicative of a common founder. In addition to the assignment of the Saudi SSS and Kuwaiti KCS syndromes to overlapping genetic intervals, comparison of the haplotypes unexpectedly demonstrated that the diseases shared an identical haplotype. This finding, combined with the clinical similarity between the two syndromes, suggests that the two conditions are not only allelic but are also caused by the same ancestral mutation.

Abnormalities, Multiple↗
PubMed1999

Wine yeast fermentation vigor may be improved by elimination of recessive growth-retarding alleles.

The presence of recessive growth-retarding alleles can reduce the fitness of industrial wine yeasts. In nature, these alleles are supposed to be eliminated through "genome renewal". We emulated this process in the laboratory to increase the fermentation vigor of wine yeasts. The procedure is simply to sporulate the yeast strains and select new homozygous single-spore descendants. Most of the yeasts achieve a faster onset of fermentation when recessive deleterious genes are eliminated. The increase of the degree of homozygosity has no relation, either direct or inverse, with the fermentation vigor of the yeasts or with the quality of the resulting wine. However, in some strains in which recessive growth-retarding alleles have been eliminated, the fermentation vigor and the quality of the wine were found to be improved simultaneously.

Alleles↗
PubMed1998

A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in brief no. 117. Online.

Congenital lipoid adrenal hyperplasia (CLAH) is an autosomalrecessive disorder characterized by impaired production of all steroids including glucocorticoids, mineralocorticoids and sexsteriods. It has recently been reported that mutations in the steriodogenic acute regulatory protein (StAR) gene cause CLAH. We analyzed the StAR gene in a Japanese patient with CLAH. The patient was revealed to be a compound heterozygote bearing a nonsense mutation Q258X, changing codon 258 (CAG) encoding Gln to the stop codon TAG, and a novel framshift mutation 840delA resulting from deletion of one of the three adenosines normally present in codon 238 (AAA), thus leading to a frameshift after codon 237 (Thr) in the StAR gene. The patient was also revealed to be homozygous for a novel missense point mutation D203A, changing codon 203 (GAC) encoding Asp to GCC encoding Ala in the StAR gene. To elucidate the significance of the D203A mutation, we analyzed the StAR gene sequence in twenty normal subjects, and found that all of them were homozygous for the D203A mutation, indicating that the D203A mutation is an innocent polymorphism. In conclusion, we have identified a novel frameshift mutation 840delA which seems to cause 840delA and the first polymorphism D203A in the human StAR gene.

Adrenal Hyperplasia, Congenital↗
PubMed1984

A mild autosomal recessive form of osteopetrosis.

We report on four individuals in one kindred with relative or absolute short stature; increased upper/lower segment ratio with decreased arm span; mandibular prognathism and dental abnormalities; fractures following minimal trauma; mild to moderate anemia with extramedullary hematopoiesis; and radiographic changes of osteopetrosis, including sclerosis of the cranial base, generally increased bone density, sclerosis of the vertebral end plates, and transverse bands and poor diaphyseal modelling of the long bones. There is intrafamilial variability of clinical and radiographic findings in individuals with this mild, autosomal recessive form of osteopetrosis. We summarize ten families from the literature, which include 18 cases of mild recessive osteopetrosis. The manifestations of many are similar to those of the individuals reported here. Two other types of recessive osteopetrosis have been reported previously: osteopetrosis associated with renal tubular acidosis, and severe osteopetrosis with hepatosplenomegaly, pancytopenia, and early death. Autosomal dominant osteopetrosis is variable but usually mild. Pedigree analysis is currently the only reliable method of determining the pattern of inheritance in mild osteopetrosis.

Adult↗
PubMed1987

Autosomal recessive nonsyndromal microcephaly with normal intelligence.

Autosomal recessive microcephaly is usually associated with moderate to severe mental retardation. An apparently new autosomal recessive disorder comprising a characteristic facial appearance associated with microcephaly and normal intelligence, immunodeficiency, and increased risk for lymphoreticular malignancies has been described recently. We report on a large Arab kindred with frequent consanguineous marriages and eight cases in five sibships with microcephaly, peculiar facies, and normal intelligence. Of these cases, two died of an acute lymphoreticular malignancy or bronchopneumonia. Immunological and chromosomal studies carried out for the three affected living sibs were normal. The existence of an autosomal recessive nonsyndromal variant of microcephaly with normal intelligence is proposed and discussed.

Adolescent↗
PubMed1989

Autosomal recessive form of connatal Pelizaeus-Merzbacher disease.

We report on a brother and sister with the connatal form of Pelizaeus-Merzbacher disease. This rare degenerative disease of white matter is reported to be transmitted as an X-linked recessive with an occasional affected female. Some authors have suggested that an autosomal recessive form exists. When this family is analyzed with other families in the literature, both X-linked and autosomal recessive inheritance must be considered.

Child, Preschool↗
PubMed1990

Social mechanisms in the population genetics of Tay-Sachs and other lethal autosomal recessive diseases: a computer simulation model.

A computer simulation model was developed to study the effects of various feudal social customs on the incidence of lethal autosomal recessive genes. Populations of 500 individuals were created in which each person was characterized by sibship, genotype, and sex. The numbered sibships were sorted into numerical order. Each individual then sought a mate from 6 or 12 sibships on either side of his or her own sibship. The resulting couples were sorted in order of the husband's sibship number, after which the couples produced children in accordance with the prevailing birth rate. This ordering of sibships made the probability of a gene remaining in one locality higher than the probability of it drifting to distant localities. A lethal autosomal recessive gene was introduced into populations at a starting carrier rate of 10%. This fell after 20 generations to 2.54 +/- 0.17% (SEM) which was significantly less than the 5.00% carrier rate predicted by a deterministic model in which random mating occurred in an infinite population. The excessive loss of the lethal gene was caused by the high incidence of consanguineous marriages and by the occurrence of random inequalities in the distribution of the gene. The avoidance of sib marriages raised the final carrier frequency (3.28 +/- 0.19%) as did reproductive compensation (4.33 +/- 0.26%). The combination of the incest taboo and reproductive compensation raised the final carrier rate to 5.05 +/- 0.28%. It is concluded that the social factors which may have operated over a period of many centuries in the past have had a significant effect on the population genetics of lethal autosomal recessive genes.

Computer Simulation↗
PubMed1990

Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family.

Hereditary multiple atresias involving the gastrointestinal tract from pylorus to rectum are the most unusual form of intestinal atresia; the type of inheritance was suggested to be autosomal recessive. The inheritance of the severe combined immunodeficiency syndrome can be autosomal recessive or X-linked. We report on 3 sibs with multiple-level intestinal atresias. One sib had severe combined immunodeficiency syndrome and clinical histories of the other 2 sibs strongly suggested a congenital immunodeficiency syndrome. The parents of those children were healthy and nonconsanguineous. To our knowledge, this is the first report of the association of multiple gastrointestinal atresias and immunodeficiency which appears to have an autosomal recessive pattern of transmission. Our family report suggests that, in the presence of multiple gastrointestinal atresias, attention should be given to possible associated immunological disorders.

Abnormalities, Multiple↗
PubMed1993

Concordance and recessive inheritance of Leber congenital amaurosis.

Pedigrees were obtained on 43 patients with confirmed Leber congenital amaurosis, a rare form of blindness caused by congenital dysfunction of the retina. All of the pedigrees were consistent with autosomal recessive inheritance and the segregation frequency using classical segregation analysis was 0.24 +/- 0.07. Six of the 7 affected sib pairs were concordant in regards to systemic abnormalities. Despite previous reports that Leber congenital amaurosis can be inherited either as an autosomal dominant or recessive condition, our findings support only an autosomal recessive inheritance of this disorder.

Adolescent↗
PubMed1993

PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects.

We have studied 2 sibs with vertebral, radial, congenital heart, and ear defects. The second patient also had limb pterygia and meningomyelocele. The abnormalities in these two sibs are seen in the VATER association; however, distinguishing these cases from the VATER association are the findings of pterygia, meningomyelocele, and probable autosomal recessive inheritance. We propose the acronym PHAVER syndrome for limb pterygia, heart defects, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. This represents a new autosomal recessive disorder with phenotypic variability.

Abnormalities, Multiple↗
PubMed2004

A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.

Non-syndromic syndactylies have been classified into five major types (I-V), all showing autosomal dominant mode of inheritance. Later, the classification was extended and three additional variants (VI-VIII) were defined. Type VII, the Cenani-Lenz syndactyly, is the only non-syndromic, autosomal recessive type. It is characterized by fusion of all phalanges with metacarpal synostosis, dislocated and dysplastic carpals and infrequently, radio-ulnar fusion. Here, we present a Pakistani family with a novel non-syndromic autosomal recessive syndactyly manifesting a unique combination of clinical features. In both hands, reduction of certain phalanges is evident. Radiological examination shows synostosis of third and fourth metacarpals bearing single phalanges. The first three toes are webbed, with hypoplastic terminal phalanx in all the toes. Besides Cenani-Lenz syndactyly, the phenotype segregating in our family is the second well-documented autosomal recessive, non-syndromic syndactyly. A phenotype similar to our family was described in a Turkish kindred but was considered to be a homozygous expression of type I syndactyly. Since the clinical features in our family had minimal overlap with syndactyly types I, II, and III, we have performed microsatellite marker screening to look for the cosegregation of this phenotype with any of the known loci for these respective types. We show that the phenotype in our family is not linked to chromosomal regions 2q34-q36, 2q31, and 6q22-q23 encompassing loci for syndactyly types I, II, and III.

Adult↗
PubMed2026

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1-Related Autosomal Recessive Disorder Associated With Usher-Like Symptoms.

Autosomal recessive HARS1-related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl-tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses. In-vitro studies have previously shown that histidine can rescue a humanized yeast model for pathogenic HARS alleles. Fourteen children homozygous for HARS Y454S were treated with supplemental oral histidine (50 mg/kg BID) and monitored with bloodwork and physical, visual, and audiometry assessments during a 3-year clinical trial, then followed for more than 4 years on histidine in the post-trial period. Patient fibroblasts were assessed for response to histidine. Hearing and vision remained stable, and growth improved significantly. Children remained healthy, with no severe deteriorations despite exposure to bacterial and viral infections, including COVID-19. Gains in growth were maintained in the post-trial period on varying levels of histidine supplementation. Daily oral histidine supplementation in children with autosomal recessive HARS1-related disorder can ameliorate or slow the progression of disease and is safe, inexpensive, and well tolerated. This study adds to the growing list of autosomal recessive ARSopathies (aminoacyl-tRNA synthetase disorders) that are amenable to amino acid supplementation.

Humans↗