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PubMedDate not supplied

Exaggerated effect of bilateral medial rectus recession in developmentally delayed children.

Many have suggested that the esotropia associated with developmental delay should be considered separately. However, the esotropia surgery recommended for developmentally delayed children has been similar to that performed in normal children. We have noticed a tendency for developmentally delayed children to develop consecutive exotropia following bilateral medial rectus recessions. Of 94 children undergoing such surgery between 1981 and 1991, 31 were developmentally delayed. Follow up ranged from 7 months to 202 months (mean 24 months). Surgical effect, defined as the change in alignment following each amount of surgery, was greater in the developmentally delayed group than in control subjects (P = .002). The increase in effect of the same amount of surgery in a developmentally delayed patient averaged 5.28 prism diopters, but was much larger in specific instances. Variability of effect was more marked among developmentally delayed children. We conclude that bilateral medial rectus recessions in developmentally delayed children may be better postponed in some cases, deferred for smaller angles, or decreased in amount.

Adolescent↗
PubMedDate not supplied

Alignment success following medical rectus recessions in normal and delayed children.

Others have suggested that developmentally delayed children, who are frequently esotropic, have a poor prognosis following esotropia surgery. To date, no comparison of success rates in normal and delayed children following similar surgery has been made. We compared our long-term results following graded bilateral medial rectus recessions in consecutive normal (n = 62) and delayed (n = 29) children. We defined success as alignment maintained within 10 delta of orthophoria. Survival curves were compared using the Mantel-Haenszel statistic. Delayed children had a significantly poorer outcome (p = .05) throughout follow up, which ranged from 12 to 120 months (mean = 24 months). Early in the period of study, we observed a large proportion of overcorrections among the delayed children. Subsequent modification in the amount of surgery performed appeared to improve the initial and long-term success in these children. We conclude that delayed children do have a poorer prognosis than normal children following medial rectus recession. This prognosis may be improved by more conservative amounts of surgery.

Adolescent↗
PubMed1994

[Trans-duodenal-recess laparoscopic nephrectomy and adrenalectomy. Preliminary report].

We report two cases of left nephrectomy and one case of left adrenalectomy with our new laparoscopic procedure. We treated the left renal vein first using trans-duodenal-recess approach. The left renal vein could be detected after an incision into the parietal peritoneum on the left side of the duodenojejunal flexure (duodenal-recess) was performed. When the nephrectomy was performed, the renal artery and vein were transected using endoGIA. When the left adrenalectomy was performed, the adrenal vein was clipped and divide after lysis of the left renal vein. Our new method allowed the renal vein to be treated first, so the remainder of the operation could be performed without the risk of bleeding.

Adrenalectomy↗
PubMedDate not supplied

Endoscopic gastrocnemius recession for the treatment of gastrocnemius equinus.

A prospective analysis was conducted of the amount of correction obtained and number of complications resulting from 31 endoscopic gastrocnemius recessions in 28 patients. The average amount of increase in ankle dorsiflexion was 18 degrees. Few complications were encountered, with mild "soreness" and distal "bruising" being reported by four patients. The only other complaint was "weakness." The endoscopic gastrocnemius recession is a minimally invasive technique with a low rate of complications that offers a comparable amount of correction to that of traditional open procedures in the treatment of gastrocnemius equinus.

Adolescent↗
PubMed1999

Outcome study of bilateral lateral rectus recession for intermittent exotropia in children.

BACKGROUND AND OBJECTIVE: The purpose of this paper is to report a statistical analysis of the surgical results in a consecutive series of 52 children treated by bilateral lateral rectus recession for intermittent exotropia when the operating surgeon was confronted by an increase in manifestation of the strabismus. PATIENTS AND METHODS: The charts were abstracted for age at initial surgery, quantity of initial deviation, initial refraction, motor alignment at one week, six months, and at the end of the study. The incidence and result of secondary surgery and the incidence of the monofixation syndrome result was also determined. RESULTS: Thirty-two (62%) of the patients were successfully aligned at six months by the initial surgery performed for a mean of 25 prism diopters (PD) of preoperative deviation at a mean age of 4 years 8 months. Eleven patients (21%) were undercorrected and 9 patients (17%) were overcorrected at the six month exam. The patients were followed for a mean of 4 years, 4 months. Alignment at 6 months postoperatively was predictive of success by the end of the study, but the age at initial surgery, the size of the deviation, esotropia at 1 week, and initial refraction were not predictive of success. Secondary surgery was performed in 11 patients and the monofixation syndrome result was found in 5 patients. CONCLUSION: Successful alignment was achieved in the majority of children treated by an initial bilateral lateral rectus recession utilizing a currently popular surgical dosage table. Long term alignment success was not predicted by esotropia during the first postoperative week or the age at initial surgery but was correlated with the 6-month data. Secondary surgery was performed in 20% and the incidence of the monofixation syndrome was approximately 10% at the end of the study.

Adolescent↗
PubMed1999

Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency.

Stroke-like episodes, defined as periods of acute localized neurological dysfunction during which brain imagery suggests cerebral ischemia but vascular anatomy is normal, occurred in 3 patients with autosomal recessive Saguenay-Lac St-Jean (SLSJ) cytochrome oxidase (COX) deficiency. The patients developed focal neurological deterioration and frontal hypodensities on cerebral computerized tomography (CT). Arteriography, performed in 1 patient during an acute episode, showed normal vascular anatomy. Nevertheless, capillary shunting was evident both in regions that appeared abnormal on the initial cerebral CT study and in regions that appeared normal but subsequently developed Leigh disease. Stroke-like episodes did not exacerbate systemic acidosis, and acidotic decompensations occurred independently of stroke-like episodes. In conclusion, stroke-like episodes occur in autosomal recessively inherited congenital lactic acidoses as well as in those caused by mitochondrial DNA mutations. In some cases, acute localized neurovascular changes occur in regions that subsequently develop Leigh disease.

Brain↗
PubMed1999

Recession and well-being.

In this paper we address two related questions: how much do economic recessions affect the aggregate well-being of a population, and by what means? Using data from the 1973-77 Quality of Employment Panel of full-time workers who experienced the 1974-75 recession (N = 830), we answer these questions by using an analytic procedure that allows us to determine the percentage of total aggregate (mean) change in well-being attributable to various changes in sociodemographic statuses, labor market positions, and job characteristics. Results from this procedure showed significant increases in the mean levels of distress and dissatisfaction for this sample and that the largest percentages of change were accounted for by changes in job characteristics: about 20 percent of the total change in distress and 47 percent of the total change for dissatisfaction. In particular, increased job demands and increasingly inadequate pay made substantial contributions, with the latter alone accounting for a quarter of the total change in dissatisfaction. Unemployment experiences also contributed substantial, but smaller, percentages to the change in distress (10 percent).

Adult↗
PubMed1994

Postequatorial horizontal rectus recession in the management of congenital nystagmus.

Postequatorial (12 mm) recession of all four horizontal recti was done in nine patients with congenital nystagmus. Fifteen of 18 eyes showed decreased amplitude of nystagmus while 12 eyes also showed an increase in visual acuity. Functionally, significant limitation of ocular motility was not encountered despite unconventionally large recessions.

Adolescent↗
PubMed1999

Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of sylvius.

Isolated hydrocephalus due to congenital stenosis of the aqueduct of Sylvius is almost always an X-linked recessive inherited condition. We describe a brother and sister with isolated hydrocephalus from congenital aqueductal stenosis. We believe that these two occurrences represent a rare autosomal recessive form of this abnormality. In assessing a first known occurrence of hydrocephalus with stenosis of the aqueduct of Sylvius in a family, the rare possibility of autosomal inheritance must be considered in genetic counselling.

Abortion, Therapeutic↗
PubMed2000

An analysis of ABCR mutations in British patients with recessive retinal dystrophies.

PURPOSE: Several reports have shown that mutations in the ABCR gene can lead to Stargardt disease (STGD)/fundus flavimaculatus (FFM), autosomal recessive retinitis pigmentosa (arRP), and autosomal recessive cone-rod dystrophy (arCRD). To assess the involvement of ABCR in these retinal dystrophies, the gene was screened in a panel of 70 patients of British origin. METHODS: Fifty-six patients exhibiting the STGD/FFM phenotype, 6 with arRP, and 8 with arCRD, were screened for mutations in the 50 exons of the ABCR gene by heteroduplex analysis and direct sequencing. Microsatellite marker haplotyping was used to determine ancestry. RESULTS: In the 70 patients analyzed, 31 sequence changes were identified, of which 20 were considered to be novel mutations, in a variety of phenotypes. An identical haplotype was associated with the same pair of in-cis alterations in 5 seemingly unrelated patients and their affected siblings with STGD/FFM. Four of the aforementioned patients were found to carry three alterations in the coding sequence of the ABCR gene, with two of them being in-cis. CONCLUSIONS: These results suggest that ABCR is a relatively polymorphic gene. Because putative mutations have been identified thus far only in 25 of 70 patients, of whom only 8 are compound heterozygotes, a large number of mutations have yet to be ascertained. The disease haplotype seen in the 5 patients carrying the same "complex" allele is consistent with the presence of a common ancestor.

ATP-Binding Cassette Transporters↗
PubMed2000

Water on the knee: cysts, bursae, and recesses.

Many synovial-lined cavities occur around the knee, and MR imaging is capable of demonstrating the precise anatomic relationships of these spaces. Knowledge of normal anatomy, however, is necessary to accurately assess abnormal, fluid-filled structures. This article reviews the MR imaging appearance of normal and pathologic bursae and joint recesses, and the appearance of common cystic masses. Distinguishing features of several noncystic lesions occurring around the knee also are discussed because these can mimic bursae, recesses, and cysts.

Body Water↗
PubMed2000

Autosomal recessive cornea plana: in vivo corneal morphology and corneal sensitivity.

PURPOSE: Autosomal recessive corneal plana (RCP) is a rare corneal anomaly with unknown pathogenesis and a high incidence in Finland. The aim was to examine corneal sensitivity and the morphology of different corneal layers and subbasal nerves in RCP patients. METHODS: Three patients with a diagnosed autosomal recessive cornea plana were examined. Corneal sensitivity to different modalities of stimulation was tested in four corneas using noncontact esthesiometry. Tissue morphology of three corneas was evaluated, and in two corneas thickness of corneal layers was measured using in vivo confocal microscopy. RESULTS: Corneas of RCP patients appear to have mechanosensory, polymodal, and cold-sensitive nerve terminals. RCP patients had normal sensation thresholds for chemical, heat, and cold stimulation but a high threshold for mechanical stimulation. Their capacity to discriminate increasing intensities of stimulus was reduced, except for cold stimuli. Thickness of the epithelial layer was reduced, whereas total corneal and stromal thicknesses were slightly reduced or close to normal values. In all cases Bowman's layer was absent. Subbasal nerves had abnormal branching patterns. The arrangement of anterior keratocytes was altered, showing clustered and irregularly shaped nuclei. Increased backscattering of light in confocal microscopy through focusing (CMTF) profiles was observed throughout the stroma. Epithelial and endothelial cells appeared to be regular in shape. CONCLUSIONS: The present study revealed qualitative and quantitative alterations in corneal sensitivity, cellular morphology, and the thickness of corneal layers in RCP patients.

Cornea↗
PubMed2000

[Lumbar lateral recess and intervertebral foramen. Radio-anatomical study].

The recent developments in Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) allow an accurate analysis of the anatomical structures of the lateral recess and of the neural foramen (vertebral body, pedicle, zygapophyseal joints, ligamentum flavum, intervertebral disk) and their contents (spinal ganglion, nerves roots, foraminal veins, surrounding fat). The aim of this study is 1) to describe the normal anatomy and variants of the lateral recess and of the lumbar neural foramen, and 2) to present the main diseases involving this anatomical area.

Humans↗
PubMed2000

Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism.

Autosomal recessive juvenile parkinsonism is a hereditary neurodegenerative disorder, usually beginning before the age of 40. We found three exonic deletions and two novel point mutations (Arg33Stop and Cys431Phe) in six families with autosomal recessive juvenile parkinsonism. In 1 family, in which an autosomal dominant mode of inheritance was suspected, multiple mutant alleles were identified. Although a wide range of ages at onset was observed, there was no correlation between age at onset and genotype.

Adolescent↗
PubMedDate not supplied

The vertebral canal and the lateral recess of the lombar tract: an anatomo-radiologic study.

To address this work, we studied the vertebral canal and the lateral recess at the L1 to L5 level. The importance of this tract of vertebral column lies in the frequent pathologies involving this anatomical region. In fact, the diagnosis of any pathological condition requires the knowledge of the normal status of that anatomical district. In particular, in this study, we suggested the presence of a relation between the diameter of vertebral canal and lateral recess. In addition, the age of the subjects did not seem related to these diameters. In conclusion, we confirmed also that the living-obtained data have a practical utility for clinical and surgical applications.

Adult↗
PubMed2000

[Diagnosis by electron microscopy of recessive dystrophic epidermolysis bullosa].

Inherited epidermolysis bullosa (EB) includes a number of distinctive diseases that are characterized by the presence of fragile skin and the tendency to develop blisters and erosions. The current classification separates the types of EB on the basis of the ultrastructural level of the blisters. The electron microscopy is very important for the diagnosis and in the recessive dystrophic EB shows that the lamina densa forms the roof of the blister and that the number of anchoring fibrils are absent or reduced. We present the case of a 30 year old woman with a diagnosis of recessive dystrophic EB diagnosed by electron microscopy.

Adult↗
PubMed2001

Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.

OBJECTIVE: To describe the phenotype of Bothnia dystrophy, an autosomal recessive retinal dystrophy with an R234W mutation in the RLBP1 gene encoding cellular retinaldehyde-binding protein. DESIGN: Medical records were reviewed retrospectively. Ophthalmologic examination, including kinetic perimetry and, in selected cases, adaptometry, color vision tests, fluorescein angiography, and electrophysiologic studies, was performed. The study included 24 individuals, all homozygous for an R234W mutation in the RLBP1 gene. RESULTS: Patients typically show night blindness from early childhood. In young adults, retinitis punctata albescens was observed, followed by macular degeneration and a decrease in visual acuity that led to legal blindness in early adulthood. Dark adaptometry and electrophysiologic testing showed an initial loss of rod function followed by a progressive reduction of the cone responses in older ages. CONCLUSIONS: Bothnia dystrophy is a unique retinal dystrophy belonging to the rod-cone dystrophies and has a high prevalence in northern Sweden. Fifty-seven cases of Bothnia dystrophy have been diagnosed, indicating a prevalence as high as 1 per 4500 population in the geographic area studied. A defect ability of mutated cellular retinaldehyde-binding protein to bind retinoid probably explains the defect rod function followed by central and peripheral degeneration. CLINICAL RELEVANCE: Retinal dystrophies associated with other mutations of the RLBP1 gene, including retinitis pigmentosa of Bothnia type, might account for a considerable number of cases of autosomal recessive retinitis pigmentosa in other geographic areas as well.

Adolescent↗
PubMed1998

[Anatomy and operation of agger nasi ethmoidal cells and frontal recess].

To reduce postoperative recurrency of nasal polyps and sinusitis, the anatomy of lateral wall of nasal cavity was studied in body head. It was found that there was a considerable wide area between the anterior attachment of the middle turbinate and the roof of ethmoidal sinus, just where the agger nasi ethmoidal cells and frontal recess lying. And also the medial wall of agger nasi ethmoidal cell is just above the anterior attachment of middle turbinate. In our operations, the bony structure above the anterior attachment of middle turbinate was resected to open the medial wall of agger nasi ethmoidal cells and the frontal recess, the lesions in them was removed carefully to reobtain a well drainage. 15 cases were followed up for 0.5 to 1.5 years and the result was satisfying.

Adolescent↗