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At least 415 records · Page 23Linked to original sources
PubMed1997

Preserving the posterior superior synovial recess during allograft TMJ diskal condylar transplantation in the adult goat.

OBJECTIVE: The purpose of the study was to test the hypothesis that sparing the posterior superior synovial recess during the resection of temporomandibular joint condyle and disk would maintain a critical mass of synovium necessary to predictably achieve a successful allograft joint reconstruction. STUDY DESIGN: A group of 15 adult goats underwent unilateral resection of their temporomandibular condyle and meniscus. The fossa and posterior superior synovial recess were left intact. They were immediately reconstructed with cryogenically preserved allograft mandibular condyles and temporomandibular joint disk harvested from 15 adult donor goats. The animals were evaluated clinically and radiographically at 6 and 12 months and histologically at 12 months. RESULTS: Of the 15 animals, 13 met all the criteria to be declared a success and retained the posterior superior synovial recess. CONCLUSION: Immediate joint reconstruction using cryogenically preserved mandibular condyles and temporomandibular joint disk can have a high rate of success if the native posterior superior synovial recess remains intact.

Animals↗
PubMed1997

Recession of both horizontal rectus muscles in Duane syndrome with globe retraction in primary position.

INTRODUCTION: Duane syndrome is characterized by abduction deficiency, narrowing of the palpebral fissure on adduction, and globe retraction,which can be the most prominent aspect of the motility disorder. Recession of both horizontal rectus muscles was investigated for treatment of severe globe retraction. METHODS: Three patients with Duane syndrome were operated on for severe globe retraction. The medial rectus muscles were recessed from between 5.5 to 6.5 mm and the lateral rectus muscles 7.0 to 9.0 mm simultaneously. The recessions were asymmetric, as evidenced by amount of esotropia and face turn. Preoperative Hertel measurements were made in primary gaze, 30-degree left gaze, and 30-degree right gaze. The measurements were repeated at 6 months and 1 year after the operation. RESULTS: All three patients had improvement in globe retraction. The 6-month Hertel readings in primary position were improved by a mean of 3.0 mm (range 2.5 to 3.5 mm) measured in primary gaze. Hertel measurements were stable at 1 year after the operation. No complications were encountered. CONCLUSIONS: Recession of both horizontal rectus muscles is effective in the treatment of significant globe retraction in Duane syndrome.

Adolescent↗
PubMed1999

Combined resection and recession of a single rectus muscle for the treatment of incomitant strabismus.

BACKGROUND: The treatment of incomitant strabismus is challenging. Traditional approaches include the use of asymmetric bilateral surgery and the fadenoperation (posterior fixation suture). We report our experience with a different approach: combined resection and recession of a single rectus muscle. METHODS: The charts of 12 patients who underwent resection of a single rectus muscle with an equal or greater amount of recession of the same muscle were identified. In 5 patients, the procedure was performed using the adjustable suture technique, and the adjustment was performed later the same day (Group 1). In the remaining 7 patients, permanent sutures were placed at the time of surgery (Group 2). The procedure was performed for horizontal and vertical gaze incomitance, dissociated horizontal deviation, and distance-near disparity. RESULTS: Four of the 5 patients in Group 1 showed stable, long-term correction of their incomitance, both in primary gaze and in gaze in the direction of the muscle operated on. The results for patients in Group 2 showed stable, long-term correction of incomitance in 3 patients; however, these patients also had slight overcorrections in the direction of gaze opposite to the muscle operated on. An additional patient in Group 2 had a shift of her distance-near disparity, shifting from relatively exotropic to relatively esotropic disparity postoperatively. All patients in Group 2 showed at least some decrease in the amount of measured incomitance. We did not encounter complications such as muscle slippage or loss, scleral perforation, or late overcorrection in the field of gaze of the operated muscle. CONCLUSIONS: The technique of combined resection and recession of a single rectus muscle shows promise in the treatment of incomitant strabismus. It offers the advantages of posterior fixation combined with the greater technical ease of a standard hangback recession. The muscle may also be placed on an adjustable suture, allowing for postoperative adjustment in selected patients.

Adolescent↗
PubMed1999

Bilateral inferior rectus muscle recession for correction of hypotropia in dysthyroid ophthalmopathy.

PURPOSE: The restrictive myopathy of dysthyroid ophthalmopathy frequently results in strabismus and diplopia. The most common deviation is hypotropia. Ipsilateral inferior rectus muscle recession, the generally accepted treatment, may lead to a progressive marked overcorrection. The purpose of this study is to evaluate the results of bilateral asymmetric inferior rectus muscle operations with regard to late progressive overcorrection. METHODS: A retrospective review of all patients undergoing bilateral inferior rectus muscle recession for dysthyroid ophthalmopathy between 1993 and 1997 found 8 patients with hypotropia resulting from dysthyroid ophthalmopathy. Alignment and motility were assessed preoperatively and postoperatively in all patients. Bilateral asymmetric inferior rectus muscle recession was performed on all patients with an adjustable suture performed on the hypotropic eye. A successful, long-term, postoperative result was defined as orthophoria or a vertical misalignment of less than or equal to 5 PD in primary gaze. RESULTS: Data were collected from 8 patients at 4 to 6 weeks postoperatively. Six patients had successful alignment, and 2 patients remained undercorrected. Seven patients were successfully aligned, and 1 patient was undercorrected at the latest postoperative examination (mean, 18 months). CONCLUSION: In our series, bilateral asymmetric inferior rectus muscle recession resulted in successful correction of hypotropia without late postoperative overcorrections in patients with dysthyroid ophthalmopathy.

Adult↗
PubMed2001

A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome.

Previous series that described phenotypes in carriers of Alport's syndrome did not distinguish genetically between carriers of X-linked and autosomal recessive disease. In this study, modes of inheritance in unselected families with Alport's syndrome associated with two city and two provincial hospitals were determined using microsatellite markers, and carriers of disease haplotypes were identified within these families. All 47 carriers (100%) from 18 families with X-linked Alport's syndrome had dysmorphic hematuria on phase-contrast microscopy, but few developed renal failure (3 of 40 carriers; 8%), clinical hearing loss (2 of 45 carriers; 4%), retinopathy (1 of 30 carriers; 3%), or lenticonus (0 of 30 carriers; 0%). Eleven of the 14 carriers (79%) from 2 families with autosomal recessive disease had dysmorphic hematuria, but none had renal failure, clinical hearing loss, retinopathy, or lenticonus. Urinary red blood cell counts in carriers of X-linked Alport's syndrome were greater than those in carriers of autosomal recessive disease (P < 0.0001), but the frequency of proteinuria and hypertension and levels of proteinuria were not different. There was more tubulointerstitial damage in carriers of X-linked disease (P = 0.012); however, carriers of autosomal recessive disease had more widespread and more uniform thinning of the glomerular basement membrane (P < 0.0001) and less lamellation (P < 0.04).

Adolescent↗
PubMed1998

Treatment of Postcraniotomy Tension Pneumocephalus via Endoscopic Closure of the Nasofrontal Recess.

Tension pneumocephalus can be a life-threatening complication following cranial surgery. We report a 14-year-old female who developed tension pneumocephalus following her most recent external approach to a recurrent pilocytic astrocytoma of the skull base and clivus. Because the risk of devascularization of the recently placed bone grafts was a concern, an endoscopic approach was chosen instead of a cramotomy. Endoseopic decompression was accomplished by opening the anterior ethmoid and frontal recess air cells after performing an uncinectomy. The nasofrontal recess areas were then packed from below with grafts of muscle and fascia lata. Follow-up magnetic resonance imaging (MRI) at three and eight months showed complete resolution of the intracranial air. At two-year follow-up, the patient is still asymptomatic. This case report presents treatment of tension pneumocephalus through endoscopic decompression and closure of the nasofrontal recess as a viable option if significant risks are associated with craniotomy and the status of the mucosa of the nasal frontal recess is known.

Case Reports↗
PubMed1969

Hepatitis and Australia antigen: autosomal recessive inheritance of susceptibility to infection in humans.

Examples of inherited susceptibility to infection controlled by genes segregating at one or a small number of loci have been identified in lower animals. In this study we report data on what appears to be a similar situation in humans. "Australia antigen" is an antigen found in the sera of patients with acute and chronic hepatitis, and it may actually be a form of virus. It is very common in many tropical areas, and people in these areas having the antigen appear to be hepatitis carriers. The antigen is detected by immuno-diffusion in agar gel (Ouchterlony method). Individuals with the antigen are designated Au(1) and those without it Au(0). Family studies involving 1797 different individuals residing on the island of Bougainville are consistent with the hypothesis that susceptibility to chronic infection with the "antigen" is controlled by an autosomal recessive gene (Au(1)). This confirms the conclusions previously arrived at from similar (but less extensive) studies on the island of Cebu. Individuals with this inherited susceptibility do not ordinarily have overt manifestations of hepatitis. The sign test was used to determine family clustering. Segregation analysis was performed by the method of C. A. B. Smith. In the 41 Au(0) x Au(0) matings, 53.8 recessives were expected in the offspring and 56 were seen (0.7 > p > 0.5). In the Au(1) x Au(0) matings, 40.1 recessives were expected and 42 were seen (0.7 > p > 0.5). The Au(0) x Au(0) matings were also analyzed by the method of Li and Mantel, in which the recessive ratio of 0.25 is expected by the genetic hypothesis. The values observed were 0.2527 for the Bougainville study and 0.2461 for the Cebu study.

Antigens↗
PubMed1997

Physical activity levels and prompts in young children at recess: a two-year study of a bi-ethnic sample.

We investigated physical activity and encouragement for activity in a bi-ethnic cohort during recess. Activity and associated interactions of 287 children were recorded at preschool and again 2.2 years later. Children expended nearly twice as much energy at preschool recess than at elementary recess. Activity levels declined as recess time elapsed. At preschool, European-American children engaged in more moderate to vigorous activity than Mexican-Americans. As participants moved to elementary school, teachers' prompts to be active decreased and prompts from peers increased. Boys and girls received similar amounts of activity prompts at preschool, but prompts to boys increased over time. The findings suggest that school environments could be altered to promote healthful physical activity among young children.

Age Factors↗
PubMed2001

Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.

Although the role of genetic factors in the origin of Parkinson disease has long been disputed, several genes involved in autosomal dominant and recessive forms of the disease have been localized. Mutations associated with early-onset autosomal recessive parkinsonism have been identified in the Parkin gene, and recently a second gene, PARK6, involved in early-onset recessive parkinsonism was localized on chromosome 1p35-36. We identified a family segregating early-onset parkinsonism with multiple consanguinity loops in a genetically isolated population. Homozygosity mapping resulted in significant evidence for linkage on chromosome 1p36. Multipoint linkage analysis using MAPMAKER-HOMOZ generated a maximum LOD-score of 4.3, with nine markers spanning a disease haplotype of 16 cM. On the basis of several recombination events, the region defining the disease haplotype can be clearly separated, by > or =25 cM, from the more centromeric PARK6 locus on chromosome 1p35-36. Therefore, we conclude that we have identified on chromosome 1 a second locus, PARK7, involved in autosomal recessive, early-onset parkinsonism.

Age of Onset↗
PubMed2002

Azygoesophageal recess.

Knowledge of the normal radiologic appearance and manifestations of disease in the azygoesophageal recess can facilitate the detection and diagnosis of intrathoracic disease. The azygoesophageal recess is located lateral or posterior to the esophagus and anterior to the spine. It extends from the anterior turn of the azygous vein to the aortic hiatus. The configuration of the azygoesophageal recess is normally a smooth arc convex to the left. Because the right lung extends into the recess, pathology in this region can often be detected radiographically and typically manifests as increased opacity and/or as a contour abnormality. In adults, convexity directed to the right and immediately below the level of the azygous vein on a frontal radiograph is abnormal and requires further evaluation.

Adolescent↗
PubMed2004

Endoscopic transnasal transpterygopalatine fossa approach to the lateral recess of the sphenoid sinus.

OBJECTIVES: Lesions affecting the lateral recess of the sphenoid sinus are rarely discussed in the literature as a separate entity. This region is difficult to visualize and manipulate through the transnasal routes, especially when extensive pneumatization is present. External approaches to this area involve extensive surgery and are associated with significant morbidity. The objectives of this study are to present our experience with the endoscopic transpterygopalatine fossa approach as a method for exposing and manipulating lesions of the lateral recess of the sphenoid and to illustrate the detailed surgical steps of the procedure. STUDY DESIGN: Retrospective review. METHODS: Clinical charts of patients who had lesions originating from or extending into the lateral recess of the sphenoid sinus and who were treated at our institutions from September 1995 to June 2002 were retrospectively reviewed. All these patients were managed by the endoscopic transpterygopalatine fossa approach. RESULTS: Twelve patients (7 males and 5 females) were included in the study. Lesions included seven cerebrospinal fluid (CSF) leaks and five tumors. One patient with squamous cell carcinoma (SCC) of the sphenoid died of his disease. All CSF leaks were successfully repaired, and benign tumors were removed with good local control through the follow-up period. CONCLUSION: The endoscopic transpterygopalatine fossa approach is an excellent approach for dealing with lesions of the sphenoid lateral recess.

Adult↗
PubMed2005

Minimally invasive, image-guided, facial-recess approach to the middle ear: demonstration of the concept of percutaneous cochlear access in vitro.

HYPOTHESIS: Image-guided surgery will permit accurate access to the middle ear via the facial recess using a single drill hole from the lateral aspect of the mastoid cortex. BACKGROUND: The widespread use of image-guided methods in otologic surgery has been limited by the need for a system that achieves the necessary level of accuracy with an easy-to-use, noninvasive fiducial marker system. We have developed and recently reported such a system (accuracy within the temporal bone = 0.76 +/- 0.23 mm; n = 234 measurements). With this system, image-guided otologic surgery is feasible. METHODS: Skulls (n = 2) were fitted with a dental bite-block affixed fiducial frame and scanned by computed tomography using standard temporal-bone algorithms. The frame was removed and replaced with an infrared emitter used to track the skull during dissection. Tracking was accomplished using an infrared tracker and commercially available software. Using this system in conjunction with a tracked otologic drill, the middle ear was approached via the facial recess using a single drill hole from the lateral aspect of the mastoid cortex. The path of the drill was verified by subsequently performing a traditional temporal bone dissection, preserving the tunnel of bone through which the drill pass had been made. RESULTS: An accurate approach to the middle ear via the facial recess was achieved without violating the canal of the facial nerve, the horizontal semicircular canal, or the external auditory canal. CONCLUSIONS: Image-guided otologic surgery provides access to the cochlea via the facial recess in a minimally invasive, percutaneous fashion. While the present study was confined to in vitro demonstration, these exciting results warrant in vivo testing, which may lead to clinically applicable access.

Cochlea↗
PubMed2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1, and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, previously overlooked role for noncoding snRNAs in human disease. Here, we systematically analysed 200 potentially functional snRNA genes in a French cohort comprising 26,911 individuals with rare disorders and through international collaborations. We identify de novo and biallelic variants in RNU2-2 associated with both dominant and recessive NDDs in 126 individuals from 108 unrelated families. Recessive RNU2-2 NDD is at least twice as frequent as the dominant NDD caused by n.4G>A and n.35A>G, and often arises from a de novo variant in trans with an inherited allele, reflecting the high mutability of snRNA genes. Dominant and recessive RNU2-2-NDDs share overlapping clinical features with frequent epilepsy. Blood transcriptomics and DNA methylation analyses revealed subtle, variant-specific effects on splicing and episignatures. Our findings support a gradient-of-impact model and a continuum between dominant and recessive inheritance, establishing RNU2-2 variants as a frequent cause of NDDs, nearly as prevalent as ReNU syndrome.

Journal Article↗
PubMed1996

Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminases.

Congenital recessive ichthyosis has a broad range of clinical presentations, which may be considered a spectrum of phenotypes with classic lamellar ichthyosis at one pole and classic congenital ichthyosiform erythroderma at the other. The identification of mutations in the transglutaminase-1 gene as a cause of lamellar ichthyosis implicates transglutaminases in other congenital recessive ichthyoses. We investigated two multiplex families with clinical manifestations between the two poles for linkage to the transglutaminase-1 locus on chromosome 14. Strongly negative lod scores prompted a search for linkage to two other epidermally expressed transglutaminases, transglutaminase-2 and transglutaminase-3, on chromosome 20. No evidence for linkage was found. These data confirm the hypothesis that the congenital recessive ichthyoses are genetically heterogeneous and in two families exclude two other transglutaminases that could be considered as candidate loci for at least some of the nonlamellar recessive ichthyoses.

Child↗
PubMed1979

Carcinoembryonic antigen: increased plasma levels in recessive epidermolysis bullosa.

Circulating plasma levels of the oncofetal antigen, carcinoembryonic antigen, were examined in 18 patients with various forms of epidermolysis bullosa. Carcinoembryonic antigen was markedly elevated in the plasma of 4 of 6 patients with recessive dystrophic epidermolysis bullosa and in 1 of 2 patients with recessive epidermolysis bullosa letalis. In contrast, patients with dominantly inherited forms of the disease, dominant epidermolysis bullosa simplex and dominant dystrophic epidermolysis bullosa, had normal levels of antigen. In the recessive patients, the plasma levels of carcinoembryonic antigen appeared to correlate with the severity of cutaneous involvement. Alternatively, it is possible that expression of carcinoembryonic antigen is genetically linked to certain forms of recessive epidermolysis bullosa or is part of a pleiotropic effect of the gene coding for the disease.

Adolescent↗
PubMedDate not supplied

A visual basic spreadsheet macro for recession curve analysis.

A Visual Basic program for an Excel spreadsheet was written to construct a master recession curve (MRC), using the adapted matching strip method, for recession analysis of ground water level time series. The program uses five different linear/nonlinear regression models to adjust individual recession segments to their proper positions in the MRC. The program can also be used to analyze the recession segments of other time series, such as daily stream discharge or stage. Some examples of field data from Croatia are used to illustrate the usefulness of its application.

Algorithms↗
PubMed2006

Adal-1 bioadhesive for sutureless recession muscle surgery: a clinical trial.

AIMS: To evaluate the efficacy and biotolerance of the Adal-1 adhesive for muscle sealing in strabismus surgery. METHODS: 27 eyes were included in the study: 17 in the control group and 10 in the study group. Surgery was performed on the recession of the horizontal rectus muscles. In the control group the muscle was joined to the sclera by a Vicryl 7/0 suture. In the study group, the Adal-1 adhesive was used instead. The efficacy of the sealing of the muscle to the sclera and the biotolerance of the surrounding tissues were evaluated. RESULTS: The muscular recession in the control group was 8.17 (SD 2.38) with displacement of the sealing point of 0.02 (1.7) mm. In the group sealed with adhesive, the muscular recession was 9.09 (3.08) and the displacement was 0.15 (1.56) mm, with no significant differences between the techniques (p<0.05). The inflammation of the surrounding tissues in the immediate postoperative period was greater with the suture technique (p>0.05), but there were no differences in the other postoperative periods (Mann-Whitney U test). CONCLUSION: Adal-1 was an effective and safe alternative to sutures in muscle recession for strabismus surgery in this study.

Acrylates↗
PubMed1986

Augmented medial rectus recession in the management of esotropia.

Forty-six children awaiting surgery for concomitant esotropia were placed into two matched groups. One group received bilateral medial rectus recessions, while the second group received augmented bilateral medial rectus recessions. By recession the conjunctiva and subconjunctival tissue in addition to the medial rectus we consistently increased the correction obtained. With bilateral medial rectus recession to correct large angle esotropia application of the augmented technique is more likely to provide a full correction.

Child, Preschool↗