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PubMed2006

Clinical heterogeneity of recessive ataxia in the Mexican population.

Approximately 75% of Indo-European patients with recessive ataxia are homozygous for frataxin gene (FXN) mutations and have either typical or atypical Friedreich ataxia (FRDA). Our previous analysis of 134 Mexican Mestizo recessive ataxia patients showed that FRDA is relatively uncommon in the Mexican population (10.4%). This article reports the evaluation of the phenotypes of these patients. Over half of the patients with clinical diagnostic criteria for FRDA did not carry FXN mutations, constituting a "FRDA-like" phenotypic subgroup. Analysis of non-FRDA patients revealed a subgroup with early onset recessive cerebellar ataxia and cognitive deficit. These two phenotypic subgroups accounted for approximately 60% of all patients, indicating that the cause for recessive ataxia in the Mexican population is distinct from other populations and remains largely unknown.

Adolescent↗
PubMed2005

Posterior cruciate ligament recess and normal posterior capsular insertional anatomy: MR imaging of cadaveric knees.

PURPOSE: To analyze the normal pattern of fluid accumulation adjacent to the posterior cruciate ligament and anatomic variations of joint capsule insertion sites in the posterosuperior corner of the human knee by using magnetic resonance (MR) imaging in cadaveric specimens. MATERIALS AND METHODS: Fourteen fresh cadaveric knees (obtained and used according to institutional guidelines, with informed consent from relatives of the deceased) from 11 men and three women (six left knees, eight right knees; age range, 70-82 years at time of death; mean age, 76 years +/- 4.4 [standard deviation]) were studied with high-spatial-resolution MR imaging performed before and after intraarticular injection of 35-45 mL gadopentetate dimeglumine. MR images were evaluated by two readers in consensus, with emphasis on location of fluid posterior to the posterior cruciate ligament, communication of that fluid with the medial or lateral compartment of the knee, and the relation of fluid to surrounding structures. Readers also were asked to measure, in the sagittal plane, the distance between the posterior capsular insertion sites and the femoral physeal scar. For anatomic analysis, cadaveric specimens were sectioned in 3-mm-thick slices in the sagittal plane that approximated the sections acquired at MR imaging. RESULTS: In all 14 cadaveric specimens, MR arthrographic images showed a fluid collection behind the posterior cruciate ligament (in the posterior cruciate ligament recess), a finding not evident on images obtained prior to contrast material injection. The recess was distended during flexion, and it communicated only with the medial femorotibial compartment in all cases. Posterior to the posterior cruciate ligament recess, a fat pad was observed in all specimens. Incomplete joint capsule was seen behind the fat pad in seven specimens. Joint capsule insertion was at the level of the femoral physeal scar or between it and a point 15 mm above it. CONCLUSION: The posterior cruciate ligament recess has specific characteristics that allow its identification: communication with the medial compartment of the knee and absence of the adjacent joint capsule.

Aged↗
PubMedDate not supplied

Results of singular neurectomy in the posterior ampullary recess.

OBJECTIVE: To determine the effect on hearing and balance symptoms following singular neurectomy (SN) for benign paroxysmal positional vertigo (BPPV) in the ampullary recess of the posterior semicircular canal. RESEARCH DESIGN: The charts of 242 patients with chronic disabling BPPV who were treated with SN over a 29-year period (1972-2001) were reviewed. The results on relief of BPPV and hearing function were recorded. A subset of 16 patients where the posterior ampullary recess was entered to expose the SN is described in detail with regard to an effect on hearing and balance. RESULTS: A total of 252 SN were performed in 242 patients. Ten patients underwent bilateral SN sequentially; the remaining 232 patients had unilateral SN. The ages of the patients ranged from 21 to 86 years, with a mean at 57 years. The female:male ratio was 174:68. Complete relief of BPPV was achieved in 244 patients (96.8%), incomplete relief in 3 (1%), and no relief in 5 (2%). Sensorineural hearing loss (SNHL) occurred in 9 patients (3.7%). A subset of 16 patients in whom the ampullary recess was opened during SN ranged in age from 21 to 79 years, with a mean at 56 years. The female:male ratio was 12:4, with right and left sides divided almost equally. Relief of BPPV was achieved in all 16 patients with no loss of hearing function. Five patients complained of a fistula response postoperatively (31%). The fistula response resolved by 6 months postoperatively in all 5 patients. CONCLUSIONS: SN is effective in relief of BPPV with little risk of SNHL (3.7%). The risk of SNHL is not increased when the posterior ampullary recess must be entered in order to transect the singular nerve. A positive fistula response may be present temporarily in almost one third of these patients.

Adult↗
PubMed1980

Enhanced biosynthesis of human skin collagenase in fibroblast cultures from recessive dystrophic epidermolysis bullosa.

Using a sensitive, specific immunoprecipitation method, the biosynthesis of human skin collagenase was studied in fibroblast cultures from patients with recessive dystrophic epidermolysis bullosa. Sodium dodecyl sulfate polyacrylamide gel electrophoresis of solubilized immunoprecipitates showed two 3H-labeled procollagenase species that comigrated with those harvested from control cultures. Recessive dystrophic epidermolysis bullosa cultures accumulated increased amounts of collagenase. Both the initial rate of accumulation of intracellular enzyme and the rate of secretion were enhanced, suggesting that excessive accumulation is related to increased synthesis. Because the turnover of labeled collagenase was unaltered, the accumulation could not be attributed to diminishing enzyme degradation. No preferential incorporation of [3H]leucine into recessive dystrophic epidermolysis bullosa collagenase occurred. Furthermore, the mutant cultures displayed no alteration in total protein synthesis, the intracellular leucine pool, or the growth kinetics of the cells. Cells from a patient with dominant epidermolysis bullosa did not show enhanced accumulation of collagenase. The levels of collagenase synthesized in vitro correlated with those observed previously in vivo in recessive dystrophic epidermolysis bullosa patients, suggesting that this biochemical trait is pathogenetically significant in the disorder.

Cells, Cultured↗
PubMed1981

Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis.

Activity of the microsomal enzyme, steroid sulfatase, is absent in keratinocytes, fibroblasts, and leukocytes of patients with recessive x-linked ichthyosis. This study was undertaken to determine if cholesterol sulfate, a substrate of this enzyme, accumulates in the pathological scale of these patients. Scales from 8 patients with recessive x-linked ichthyosis, 10 patients with other forms of ichthyosis, and normal human outer stratum corneum were extracted with chloroform/water (1:2:0.8 by vol) and lipids were fractionated by quantitative, sequential thin-layer chromatography. Cholesterol sulfate was identified by cochromatography in several solvent systems, by its staining characteristics, by biochemical analysis, and by mass spectrometry. The mean cholesterol sulfate content of recessive x-linked ichthyotic scale was 12.5 +/- 0.8% of the total lipid, a fivefold increase over normal (P less than 0.0025), whereas the cholesterol sulfate content of other ichthyotic scale was normal. This increase in cholesterol sulfate content was accompanied by a decrease in total neutral lipids (P less than 0.0025) and free sterols (P less than 0.025) but no change in sterol esters or total sterols. These results demonstrate that deficiency of steroid sulfatase in recessive x-linked ichthyosis results in excessive accumulation of a substrate, cholesterol sulfate, in the pathologic scale, which may underly the pathogenesis of the scaling in this disorder. Measurement of cholesterol sulfate content in scale provides an alternative method to enzymatic assay for the diagnosis of this form of ichthyosis.

Adolescent↗
PubMedDate not supplied

The supratubal recess in cholesteatoma surgery.

Acquired attic retraction cholesteatoma involving the anterior epitympanum is infrequently encountered and even less frequently discussed in the literature. The lack of cholesteatoma in this region is mostly due to a ridge of bone extending inferiorly from the tegmen tympani, just anterior to the cochleariform process. The term "cog" was coined and popularized to refer to this bony ridge. Erosion of the cog by cholesteatoma matrix allows extension of cholesteatoma into the supratubal recess. A number of vital structures including the facial nerve, cochlea, middle fossa dura, and internal carotid artery are intimately related to the supratubal recess. A clear three-dimensional understanding of these structures is necessary to remove disease safely from this area regardless of whether the posterior canal wall is left up or taken down. We present a series of dissection illustrations of the supratubal recess and discuss the possible routes of cholesteatoma extension. A series of patients with varying degrees of involvement of the supratubal recess and related structures is presented, and the pitfalls and management of cholesteatoma in this area are discussed.

Adolescent↗
PubMed2005

Evaluation of results of endoscopic gastrocnemius recession.

BACKGROUND: Gastrocnemius recession is traditionally done as an open procedure. The aim of this retrospective study was to evaluate the safety and efficacy of gastrocnemius recession performed endoscopically. METHODS: The procedure was done in 28 patients (17 men and 11 women), ranging in age from 16 to 72 years (average 47.57, SD 13.86) between January, 2001, and September, 2003. In three patients, the procedure was done bilaterally. Followup ranged from 4 to 36 months (average 22.00, SD 11.84). The procedure was done through a single medial or lateral portal using the 3M Agee Carpal Tunnel Release System (Micro Aire Surgical Instruments, Charlottesville, VA). RESULTS: The initial incision for portal entry was at the wrong level in two of 31 procedures (6.5%), requiring a second incision. The recession could not be accomplished in one of 31 procedures (3.2%), so an open technique was used to complete transection of the gastrocnemius aponeurosis. One patient had a superficial wound infection (3.2%). There was no incidence of sural nerve or Achilles tendon damage. Analysis of results from a modified Olerud and Molander score using a paired student t-test revealed statistically significant improvement (p < or = 0.05) in pain, stiffness, swelling, and overall average score after the procedure. CONCLUSION: The results of endoscopic gastrocnemius recession using the Agee Carpal Tunnel Release System have been encouraging, with limited morbidity. The technique proved both feasible and safe in this study.

Adolescent↗
PubMedDate not supplied

Large bilateral lateral rectus recession in large angle divergence excess exotropia.

PURPOSE: Classic teaching suggests that surgery for intermittent exotropia should be based on distance/near differences. True divergence excess exotropia should be treated with symmetric lateral rectus recession. The aim of this study was to investigate the effect of large bilateral lateral rectus (LR) recession in large-angle intermittent exotropia. METHODS: Thirty-three consecutive patients with large-angle divergence excess exotropia ranging from 50 to 65 (mean 56.7 +/- 6.3) prism diopters were treated with 8.0 to 9.5 mm (mean 8.8 +/- 0.7 mm) recession of both LR muscles. RESULTS: Successful alignment was achieved in 25 cases (76%) while residual exotropia was seen in eight patients (24%) within the limit of 15 prism diopters. Mean follow-up time was 28.5 +/- 8.4 (range 13 to 38) months. Abduction deficit due to this procedure was not seen in any case. CONCLUSIONS: We conclude that large bilateral LR recession is an appropriate surgical method for large-angle divergence excess exotropia.

Adolescent↗
PubMedDate not supplied

Vertical and torsional correction in congenital superior oblique palsy by inferior oblique recession.

PURPOSE: Inferior oblique recession (Fink's technique) is one of various surgical procedures to manage congenital superior oblique muscle palsy. The authors aimed to determine the effectiveness of this operation in reducing vertical deviation and torsional deviation, and to assess the dose-effect relationship. METHODS: Fifty-eight patients presenting with unilateral congenital superior oblique palsy had an inferior oblique recession of 6 mm, 8 mm, or 10 mm (16, 35, and 7 patients, respectively). Vertical deviation and torsional deviation were measured before and after surgery by means of the dark red glass dissociation in front of Harms'tangent screen and the data were analyzed retrospectively. RESULTS: A cure rate of 88% was achieved, with no complications, and no overcorrections. For the 34 patients for whom long-term follow-up was possible (mean 2.8 years), final median postoperative vertical deviations and torsional deviations were 0.5 degrees and 0 degrees, respectively, both in primary position and in adduction upgaze. CONCLUSIONS: Inferior oblique weakening by recession proves to be an efficient and safe procedure for congenital superior oblique palsy, and its effect on vertical deviation can be predicted on the extent of recession. The operation can therefore be adapted to the patient, depending on the degree of the preoperative deviation.

Adolescent↗
PubMed1979

The prevalence and distribution of gingivitis and gingival recession in children and young adults in Lagos, Nigeria.

The prevalence and distribution of gingivitis and gingival recession were studied in 820 Nigerians aged 15, 19, 20 and 21 years sampled from Lagos educational establishments. The prevalence of gingivitis was relatively high at all ages. There was a high degree of correlation between the prevalence of gingivitis affecting mouths, papillae and margins. It therefore would appear that in those mouths with gingivitis, the proportion of affected papillae or margins to those not affected varies only within narrow limits. Although the peak prevalance of gingivitis was observed in the 15-year olds, the prevalence of gingival recession was higher in the 21-year-old students than in those aged 15 years. Gingival recession may be a sequel of gingivitis resulting from apical proliferation of the epithelial attachment with destruction of the subjacent periodontal tissues. Hence gingivitis should be distinguished from gingival recession in its prevalence and distribution.

Adolescent↗
PubMed1985

CT of the pericardial recesses.

Within the pericardial cavity there are several recesses where fluid can collect in close contiguity to the major bronchi and lymph nodes. These include the transverse sinus, behind the ascending aorta and pulmonary trunk; the oblique sinus, behind the left atrium; and the left pulmonic recess, between the left pulmonary artery and the left superior pulmonary vein. There are also smaller pericardial recesses between the superior and inferior pulmonary veins, posterolateral to the superior vena cava, and between the inferior vena cava and coronary sinus. An understanding of sectional anatomy is valuable for differentiation of fluid within these recesses from mediastinal masses or enlarged lymph nodes on computed tomographic scans.

Adolescent↗
PubMed1998

The right inferior supraazygous recess: a cause of upper esophageal pseudomass on double-contrast esophagography.

OBJECTIVE: Our purpose was to characterize the radiographic features of a pseudomass impression on the upper thoracic esophagus, to determine the frequency of such a pseudomass both on double-contrast esophagography and on CT, and to elucidate the anatomic basis for this finding. MATERIALS AND METHODS: Our study group consisted of 135 patients whose double-contrast esophagograms were reviewed retrospectively for the presence or absence of an extrinsic indentation on the right posterolateral wall of the upper thoracic esophagus. In another patient group, 50 CT scans of the chest were also reviewed for the presence or absence of a prominent right inferior supraazygous recess and an associated indentation on the upper thoracic esophagus. RESULTS: Thirteen (9.6%) of the 135 barium studies revealed a smooth, gently sloping indentation on the right posterolateral wall of the upper thoracic esophagus. The indentations ranged from 5 to 10 cm in length and extended inferiorly from the thoracic inlet to or just below the aortic arch. Twenty-four (48%) of the 50 CT scans revealed a prominent right inferior supraazygous recess projecting behind the esophagus. In five cases (10%), this recess also caused a smooth indentation on the upper thoracic esophagus. CONCLUSION: A pseudomass impression was seen on double-contrast radiography as a smooth, gently sloping indentation on the right posterolateral wall of the upper thoracic esophagus in approximately 10% of patients. The indentation probably represents a normal anatomic variant (i.e., an unusually prominent right inferior supraazygous recess) that should not be mistaken for adenopathy or other masses in the mediastinum impinging on the esophagus.

Contrast Media↗
PubMed1997

Ocular manifestations of autosomal recessive Alport syndrome.

Ocular abnormalities are common in X-linked Alport syndrome, but they have not been studied in patients with the rarer autosomal recessive disease. We have examined the eyes of a family with autosomal recessive Alport syndrome. Four of the eight offspring of a consanguineous marriage had renal failure and deafness by the age of 20 years. The diagnosis of Alport syndrome was confirmed on the ultrastructural demonstration of a lamellated glomerular basement membrane (GBM) in one affected family member. Autosomal recessive inheritance was suggested by the lack of linkage to the COL4A5/COL4A6 locus, and by linkage to the COL4A3/COL4A4 locus. All four affected family members had anterior lenticonus (or had had a lens replacement for this) and the three who were examined had a dot-and-fleck retinopathy. Neither of the two unaffected offspring who were examined nor the father had these abnormalities. The ocular manifestations of autosomal recessive Alport syndrome are probably identical to those for the X-linked form. Although the mutations in these diseases affect genes for different type IV collagen chains, these chains occur together in the basement membranes of the kidney, eye and ear, and abnormalities in any one may result in the same clinical phenotype.

Adult↗
PubMed2006

The effect of graded recession and anteriorization on unilateral superior oblique palsy.

PURPOSE: We wanted to examine the effect of graded recession and anteriorization of the inferior oblique muscle on patients suffering from unilateral superior oblique palsy. METHODS: Inferior oblique muscle graded recession and anteriorization were performed on twenty-two patients (22 eyes) with unilateral superior oblique palsy. The recession and anteriorization were matched to the degree of inferior oblique overaction and hypertropia. The inferior oblique muscle was attached 4 mm posterior to the temporal border of the inferior rectus muscle in six eyes, 3 mm posterior in five eyes, 2 mm posterior in five eyes, 1 mm posterior in five eyes, and parallel to the temporal border in one eye. RESULTS: The average angle of vertical deviation prior to surgery was 11.3 +/- 3.9 prism diopters (PD). The total average correction in the angle of vertical deviation after surgery was 10.8 +/- 3.8 PD. In the parallel group, the average reduction was 14 PD. After surgery, normal inferior oblique muscle action was seen in eighteen of twenty-two eyes (81.8%). CONCLUSIONS: Graded recession and anteriorization of the inferior oblique muscle is thought to be an effective surgical method to treat unilateral superior oblique palsy of less than 15 PD.

Adolescent↗
PubMedDate not supplied

Dissociated vertical deviation: an asymmetric condition treated with large bilateral superior rectus recession.

Bilateral superior rectus recessions were performed on 25 patients for dissociated vertical deviation (DVD). Large recessions (at least 10 mm from the original insertion) have proved effective and safe, although all patients were slightly undercorrected. There were no complications of ptosis, upper lid retraction, alterations of palpebral fissure width, failure of upgaze, oblique dysfunction or overcorrection. The DVD was always asymmetric, with the greater deviation in the non-dominant eye. Forty percent of the patients had a decompensated asymmetry manifested by unilateral hypertropia of at least 10 prism diopters in addition to the DVD. These patients require an asymmetrical amount of surgery. Two such patients required reoperation, not because of residual DVD, but because of failure to correct this hypertropia. Currently we do bilateral superior rectus recessions of greater than 10 mm OU for DVD, reserving unilateral surgery for the patient with such deep amblyopia that he will never fix with the operated eye. An eye with manifest hypertropia in addition to DVD requires at least five more millimeters (greater than 15 mm) than the fixating eye. Maximum amounts of recession have not yet been determined.

Esotropia↗
PubMedDate not supplied

Retractor lysis as prophylaxis for lower lid retraction following inferior rectus recession.

BACKGROUND: Lower lid retraction is a frequent complication of inferior rectus recession, especially of larger amounts. METHODS: With an incision through the palpebral conjunctiva, the lower lid retractors were lysed at the same anesthesia as inferior rectus recessions in a total of 20 patients (24 eyes). Included are 10 patients (12 eyes) described earlier and presented here with extended follow-up. Inferior rectus recessions ranged from 2 to 10 mm (mean, 4.2 mm). RESULTS: No patient had clinically apparent lid retraction or subjective complaints of lid deformity. Results were stable for 1 to 89 months (mean, 24.8 months) of follow-up. Three patients developed symblepharon, but surgical repair was required in only 1 case. CONCLUSION: Lower lid retractor lysis is a simple, safe, and effective procedure to prevent the lower lid retraction associated with inferior rectus recession.

Eyelid Diseases↗
PubMedDate not supplied

Long-term results of hang-back medial rectus recession.

PURPOSE: To report long-term results with the hang-back technique for medial rectus muscle recession. METHODS: Medical records of 341 consecutive patients who underwent unilateral or bilateral hang-back medial rectus recession were reviewed. The amount of recession was based on the size of the esotropia as measured at near fixation. Patients were divided into two groups according to age at onset of esotropia: patients <1 year comprised group 1 and patients > or = 1 year comprised group 2. Surgical outcomes were analyzed for all patients included in the study. RESULTS: A total of 189 patients met the inclusion criteria. In group 1 patients (n=32), average deviation improved from 48.3 prism diopters (PD) preoperatively to 1.1 PD postoperatively. Eleven patients required a second procedure: 9 with recurrent esotropia and 2 with consecutive exotropia. Average time to second procedure was 27.4 months. In group 2 patients (n=157), average deviation improved from 29.6 PD preoperatively to 1.1 PD postoperatively. Twenty-one patients required a second procedure: 20 with recurrent esotropia and 1 with consecutive exotropia. Average time to second procedure was 22.7 months. CONCLUSION: The hang-back technique represents a safe, effective alternative to conventional medial rectus recession.

Esotropia↗
PubMed1999

[Mechanisms of formation and liquidation of glosso-laryngeal recesses after classical and extended supraglottic laryngectomies. Computerized topokinetic analysis of rentgenocinematographic images].

As many as 42 examinations of the pharyngeal phase of deglutition act were studied in patients after supraglottic classical and extended laryngectiomies, in whom the above examinations were performed by means of computerized topokinetic analysis of the rentgenocinematographic images. A swallowing group with formed glosso+-laryngeal recesses was isolated. In three among the six patients in whom the examinations were carried out twice (i.e. half a year after the procedure and 2 years after the operation) the formed recesses underwent liquidation. The parameters facilitating the liquidation of the above recesses between the first and the second examinations were analyzed. The liquidation of recesses corresponded with the restoration of good deglutition.

Adolescent↗