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PubMed1996

Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism.

We present the clinical features of 17 patients from 12 Japanese families with familial juvenile parkinsonism suggesting autosomal-recessive inheritance (AR-JP). Because the marriages of the parents in all but one family were consanguineous and all patients were only first generation, an autosomal-recessive trait was strongly suspected. Analysis of the clinical features showed female predominance, mean age at onset 27.8 years, and slow progression. The symptoms of the parkinsonian triad (tremor, rigidity, and bradykinesia) were mild, but gait freezing, hyperreflexia, foot dystonia, and retropulsion were relatively prominent. A characteristic finding was amelioration of parkinsonian symptoms after sleep in all patients. Response to levodopa was satisfactory, but dopa-induced choreic limb dyskinesia and wearing-off phenomenon occurred frequently. Juvenile parkinsonism is a syndrome that encompasses several clinical entities. The similarity of clinical findings in these patients, and the differences from other types of parkinsonism, indicates that AR-JP is distinct clinical entity.

Adolescent↗
PubMed1996

Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita.

Myotonia, defined as delayed relaxation of muscle after contraction, is seen in a group of genetic disorders that includes autosomal dominant myotonia congenita (Thomsen's disease) and autosomal recessive myotonia congenita (Becker's disease). Both disorders are characterized electrophysiologically by increased excitability of muscle fibers, reflected in clinical myotonia. These diseases are similar except that transient weakness is seen in patients with Becker's, but not Thomsen's disease. Becker's and Thomsen's diseases are caused by mutations in the skeletal muscle voltage-gated chloride channel gene (CLCN1). Genetic screening of a panel of 18 consecutive myotonia congenita (MC) probands for mutation in CLCN1 revealed that a novel Gln-68-Stop nonsense mutation predicts premature truncation of the chloride channel protein. Four previously reported mutations, Arg-894-stop, Arg-338-Gln, Gly-230-Glu, and del 1437-1450, were also noted in our sample set. The Arg-338-Gln and Gly-230-Glu mutations were found in patients with different phenotypes from those of previous reports. Further study of the Arg-338-Gln and Gln-230-Glu alleles may shed light on variable modes of transmission (dominant versus recessive) in different families. Physiologic study of these mutations may lead to better understanding of the pathophysiology of myotonia in these patients and of voltage-gated chloride channel structure/function relationships in skeletal muscles.

Chloride Channels↗
PubMed2002

Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.

BACKGROUND: Slow-channel congenital myasthenic syndromes (SCCMS) typically show dominant inheritance. They are caused by missense mutations within the subunits of muscle nicotinic acetylcholine receptors (AChR) that result in prolonged ion channel activations. SCCMS mutations within the AChR subunit are located in various functional domains, whereas fully described mutations in AChR non- subunits have, thus far, been located only in the M2 channel-lining domain. The authors identified and characterized two -subunit mutations, located outside M2, that underlie SCCMS in three kinships. In two of the three kinships, the syndrome showed an atypical inheritance pattern. METHODS: These methods included clinical diagnosis, mutation detection, haplotype analysis, and functional expression studies using single-channel recordings of mutant AChR transiently transfected into HEK293 cells. RESULTS: The authors identified two SCCMS mutations in the AChR subunit, L78P and L221F. Both mutations prolonged ACh-induced ion channel activations. L78P is present in a consanguineous family and appears to be pathogenic only when present on both alleles, and L221F shows variable penetrance in one of the two families that were identified harboring this mutation. CONCLUSION: SCCMS mutations may show a recessive inheritance pattern and variable penetrance. A diagnosis of SCCMS should not be ruled out in cases of CMS with an apparent recessive inheritance pattern.

Adolescent↗
PubMed1993

Gastrointestinal manifestations in the Hallopeau-Siemens variant of recessive dystrophic epidermolysis bullosa.

Epidermolysis bullosa encompasses a group of rare disorders typified by blister formation following minor trauma to the skin. Gastrointestinal tract involvement may occur in the extremely rare recessive dystrophic variants. The gastrointestinal manifestations present in 25 patients with the Hallopeau-Siemens variant of recessive dystrophic epidermolysis bullosa are reviewed. In the oesophagus both anatomical and motility abnormalities were observed. Features seen included a generally shortened oesophagus, strictures including those resembling webs, hiatus herniae, decreased peristalsis, oesophageal atony and pseudodiverticulum formation. These patients also had faecal impaction.

Adolescent↗
PubMed1990

Webbing of the pharyngeal recess in adults with cleft palate.

The limited literature on the lateral pharyngeal recess of Rosenmüller and the various presentations of pharyngeal webbing are reviewed. Webbing across the lateral pharyngeal recess is described in 28 of 31 adults with cleft palate examined. The phenomenon has not been reported before and does not appear to be a feature of the nasopharyngeal wall in noncleft individuals.

Aged↗
PubMed1980

Clinical evaluation of gingival recession treated by coronally repositioned flap technique.

Thirty-four areas of gingival recession in ten patients were treated by a coronally repositioned flap procedure. All but four of these areas had received a free gingiva graft previously. The postoperative evaluations of the wound healing were made at 2 weeks and at 1, 2, 4, 6 and 12 months after the final surgery. In most cases the amount of gingival recession was reduced with the average tissue gain being 1.82 mm. The gingival sulcus depth was unaffected by the procedure. Several cases showed total root coverage. Although the procedure described has many advantages, the authors feel these must be carefully weighed against the disadvantages before subjecting patients to such surgery.

Adult↗
PubMed1980

Treatment of localized gingival recessions. Part IV. Results after three years.

Twenty-six localized recessions treated with either a lateral sliding flap or a coronally repositioned flap procedure more than 3 years ago were reevaluated. Biometric measurements on the recipient and the donor of control teeth included: a) cementoenamel junction, gingival margin; b) sulcus depth; c) gingival margin, mucogingival line. These recordings were statistically compared to those taken 180 days after the surgical procedures were performed. Pairwise t tests were used to determine whether there were any changes between the 180 days and the 3 years postoperative control with either procedure. A two sample t test was run to see whether the changes obtained with the two procedures differed from each other. No significant changes were found. The values for gingival recession, sulcus depth and width of keratinized gingiva remained stable for both techniques throughout the observation period.

Gingiva↗
PubMed1980

A surgical procedure for the treatment of localized gingival recession in conjunction with root surface citric acid conditioning.

A total of 9 teeth were treated with a free gingival graft followed by a coronally positioned flap in conjunction with conditioning of the root surface with citric acid. The grafting procedure was done 2 weeks after the subjects could perform adequate plaque control. Thirty days after grafting, a mucoperiosteal flap was raised. The root surface was thoroughly planed and conditioned with citric acid at pH 1.0, and the flap was then positioned coronally. Clinical measurements of the amount of recession, sulcus depth, and keratinized gingiva were taken preoperatively, and at 30 and 60 days after surgery. Recession was reduced by a mean of 3.24 +/- 2.08 mm. Width of keratinized gingiva was increased to a mean of 4.99 +/- 1.23 mm. Both of these findings were highly significant. Sulcus depth was not significantly changed.

Acid Etching, Dental↗
PubMedDate not supplied

[Recessive type of Freeman-Sheldon syndrome - report of two affected siblings]

OBJECTIVE: To share knowledge and information about the peculiarities of the Freeman-Sheldon syndrome, especially concerning the high risk of recurrence of its recessive type in siblings, and to stress the importance of genetic counseling for families after the birth of an affected child. DESCRIPTION: The authors describe and comment two pediatric cases of the Freeman-Sheldon syndrome in siblings born to healthy parents. These two cases present significant peculiarities that contradict the findings of the medical literature, obtained through bibliographic research about the subject. The cases described here corroborate the existence of a recessive type of the Freeman-Sheldon syndrome. In spite of the fact that some authors suggest a high frequency of severe neurological impairment in this type of syndrome, the two cases we analyzed did not show any apparent manifestation of such sequelae. COMMENTS: The Freeman-Sheldon syndrome is heterogeneous not only in its clinical presentation but also in its genetic transmission. It is very important to be informed about the existence of more than one form of hereditary transmission of this syndrome, since genetic counseling should take into consideration all possibilities. In these cases, the use of empiric risks of recurrence would be justified.

Journal Article↗
PubMed1988

Complicating systemic amyloidosis in dystrophic epidermolysis bullosa, recessive type.

An autopsy case of dystrophic epidermolysis bullosa, recessive type, complicated by systemic secondary amyloidosis is described. The patient had developed multiple bullous lesions and erosions from birth, followed by repeated infection. At autopsy, chronic persistent inflammation was observed in the skin and in various visceral organs, accompanied by systemic amyloidosis. By the peroxidase-antiperoxidase (PAP) method, amyloid deposits stained positively for anti-AA-protein antiserum. In the present case, we concluded that the systemic amyloidosis was of the AA type, and developed secondarily to the chronic persistent inflammation in the prolonged course of dystrophic epidermolysis bullosa, recessive type.

Adolescent↗
PubMed2005

Ultrastructural changes of myotendinous nerve endings following recession or resection procedures of extraocular muscle surgeries in cats.

To verify the postoperative ultrastructural changes of the myotendinous nerve endings of feline extraocular muscles, which are known as proprioceptors. Sixteen recti of four cats were used and divided into three groups. In group A, eight lateral recti were recessed. In group B, four medial recti were resected by 10 mm from insertion to include the myotendinous junction. In group C, four medial recti were resected by 4 mm of muscle bellies only, without disturbing the myotendinous junction. Four weeks after surgery, specimens were examined with electron microscopy. In group A, overall neural structures were well maintained with slight axonal degeneration. In group B, only muscle fibers were observed without any regeneration of neural sprouts. In group C, axonal disintegration and shrinkage were evident. These results indicate that myotendinous nerve endings can be damaged in strabismus surgery, and that resection was more invasive than recession in disrupting myotendinous nerve endings.

Animals↗
PubMedDate not supplied

Large bilateral medial rectus recession in early esotropia with bilateral limitation of abduction.

Large bilateral medial rectus recession was performed in a group of 85 patients presenting early large angle esotropia with bilateral limitation of abduction. The results obtained after three postoperative years demonstrated that the proposed method not only corrects the angle of deviation but significantly improves abduction and consequently torticollis. In spite of the large recession performed, both adduction and convergence were not significantly affected.

Child, Preschool↗
PubMedDate not supplied

Evaluation of the posterior fixation plus recession operation with saccadic velocities.

I performed a posterior fixation of the medial rectus in seven patients with convergence excess esotropia and successfully reduced their esotropia at near. Postoperative saccadic velocity testing did not reveal the expected decrease in saccadic velocity as the eye moved increasingly into the field of action of the operated muscle. Posterior fixation of a rectus muscle may enhance the effect of the standard recession operation by increasing the amount of slack created in the functional part of the muscle after recession. Also, it may make a large percentage of the muscle fibers ineffective.

Adult↗
PubMedDate not supplied

Results of large single medial rectus recession.

Fifty-three patients with esotropia of 14 to 20 prism diopters received a 6-mm recession of one medial rectus muscle. All patients were three to ten years of age, had normal, equal vision, no vertical muscle imbalance, normal neurological status, and were followed for a minimum of two years. Twenty patients had high AC/A ratios, 22 were partially accommodative, four were deteriorated esophorias, four were anisometropes, and three were second operations. The average correction measured 16 prism diopters, ranging from 13 to 22 prism diopters, and 37 patients were aligned to 4 prism diopters or less of strabismus, 10 were microtropes, and all 53 had less than 10 prism diopters deviation. No persistent diplopia or consecutive exotropia was encountered. Stereopsis of 200 seconds or better was found in 75% of patients postoperatively. Large single medial rectus recessions appear to be a safe, effective, and predictable means of restoring ocular alignment and binocular vision in a select group of patients.

Accommodation, Ocular↗
PubMedDate not supplied

Excessive single lateral rectus muscle recession in the treatment of intermittent exotropia.

Ten patients with small angle intermittent exotropia of 14 to 16 prism diopters were treated by unilateral lateral rectus muscle recession of 11.5 to 12 mm on the nondominant eye. In the immediate postoperative phase, overcorrection of 4 to 6 delta gave a very good functional result. Abduction deficiency was minimal for recession up to 12 mm. This procedure should be considered as an alternative approach in the treatment of small angle intermittent exotropia showing a "basic" pattern.

Child↗
PubMedDate not supplied

An alternative approach to the surgical management of exotropia--the unilateral lateral rectus recession.

Fifty-five patients with moderate angle exotropia of 15 to 20 prism diopters were surgically treated with a unilateral lateral rectus recession of 7.0, 7.5, or 8.0 mm. The mean age at surgery was 14.5 years. The mean preoperative deviation was 18.0 delta. The mean lateral rectus recession was 7.6 mm. At the initial postoperative follow up, all patients were either a small-angle exotropia or esotropia, or orthophoric. Twenty-eight of the 55 patients (51%) were orthophoric at their most recent follow up. Twenty-four patients (44%) were undercorrected, with 22 of these having residual exodeviations less than 8 delta. Three patients (5%) were overcorrected.

Adolescent↗
PubMedDate not supplied

Progressive overcorrection after inferior rectus recession.

We reviewed 67 cases of inferior rectus muscle recession. In 14 cases, the hypotropia was corrected to a satisfactory alignment in the immediate postoperative period followed by a progressive overcorrection (hypertropia). Patients with thyroid eye disease were at highest risk for progressive overcorrection, as 9 of 18 (50%) developed the problem. Patients undergoing adjustable suture were at a higher risk for development of the overcorrection, as 1 of 35 (3%) surgeries done with standard techniques had the overcorrection while 13 of 32 (41%) done on an adjustable suture had the problem. However, the actual act of adjustment was found not to be a predisposing factor. Also, operating upon multiple muscles was found not to be a risk factor for the complication. Once progressive overcorrection occurred, it was more difficult to correct when the patient had thyroid eye disease. We also reviewed 77 consecutive cases of superior, lateral, and medial rectus muscle recessions and found no cases of progressive overcorrection.

Adolescent↗
PubMedDate not supplied

Delayed consecutive exotropia following 7-millimeter bilateral medial rectus recession for congenital esotropia.

The rate of delayed consecutive exotropia after bilateral 7-millimeter medial rectus recession for large angle congenital esotropia in 88 patients was 27% (24/88), larger than previously reported. The rate was 38% (8/21) in infants having surgery prior to 7 months of age, 20% (10/49) in infants undergoing surgery at 7 to 12 months of age, and 33% (6/18) in patients undergoing surgery at 13 months of age or later. The onset of consecutive exotropia averaged 26.8 months postoperatively, allowing a long period of good alignment for binocular vision to develop before exotropia surgery was required. Physicians and parents should be aware that delayed consecutive exotropia may develop several years postoperatively. Since delayed consecutive exotropia may be characteristic of the 7-millimeter recession procedure or characteristic of all patients who have had surgery for congenital esotropia, a prospective long-term study to compare the 7-millimeter procedure with the three- and four-muscle procedure would be helpful.

Child, Preschool↗