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PubMed2006

Benefits of retroequatorial four horizontal muscle recession surgery in congenital idiopathic nystagmus in adults.

INTRODUCTION: Four muscle surgery for congenital nystagmus was originally described in 1956 and popularized by two articles in the 1990s. A review of the literature revealed only three studies of seven, nine, and six patients published since then. We therefore reviewed our patients to determine the objective and subjective benefits of this procedure. METHODS: A retrospective review was carried out on patients who underwent bilateral maximal horizontal muscle recessions for congenital nystagmus between 1997 and 2002. Improvement in visual acuity was documented. An external assessor administered an anonymized questionnaire to discover any perceived benefit. Eighteen patients were identified, 12 men and 6 women, with an average age at surgery of 32 years. RESULTS: Preoperative visual acuity ranged from 6/9 binocularly to 6/60. All underwent bilateral medial rectus muscle recessions of 8 mm to 10 mm and bilateral lateral rectus muscle recessions of 8 mm to 12 mm. Nine patients (50%) gained one line of Snellen visual acuity. There were four complications: one scleral perforation; two developed exotropia; and one complained of asthenopic symptoms. This latter patient was the only one who experienced some deterioration of vision acuity. Fourteen of 18 (78%) questionnaires were returned. Eight patients said they were pleased; four were indifferent and two were displeased. CONCLUSIONS: We conclude that this operation delivers limited objective benefit. None of our patients were able to obtain a driving license. Fifty-seven percent of patients expressed the view that they were glad to have had the surgery, although the visual improvement was only slight.

Adolescent↗
PubMed2004

Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.

Axonal forms of Charot-Marie-Tooth disease, either dominantly or recessively inherited, are clinically and genetically heterogeneous. We describe the clinical and electrophysiological characteristics of an axonal autosomal recessive form of Charot-Marie-Tooth disease in a French family, associated with a new mutation of the ganglioside-induced differentiation-associated protein-1 gene (GDAP1). Two sisters, born to non-consanguineous parents, presented severe proximal and distal sensorimotor deficit, areflexia, pes cavus, scoliosis and vocal cord and diaphragm paralysis. They lost ambulation in the third decade and since then they have been wheelchair bound. Nerve conduction studies were consistent with an axonal neuropathy. Clinical and electrophysiological examination of their parents and their brother was normal. Genetic analysis revealed a homozygous thymidine deletion at nucleotide position 558 resulting in a frameshift at codon 186 and a stop codon at position 205. This axonal form of Charot-Marie-Tooth disease associated with a new GDAP1 mutation is recessively inherited and is characterized by a severe phenotype, since patients become wheelchair bound in the third decade, and present vocal cord and diaphram paralysis, which may be missed as they had no respiratory symptoms until the third decade.

Adult↗
PubMed2002

An innovative electro-corrosion recess creation technique for improved microelectrode fabrication.

A new and simple electrochemical (corrosion) method for recess creation for the fabrication of metal and metal-metal oxide microelectrodes has been developed. Controlled recess was created in low melting point alloy (LMA)-filled micropipettes using slightly acidic 1-3 M ZnCl2 as the electro-corrosion solution. The current was applied from a 3 V DC source. The recess length in the LMA-filled micropipette can be manipulated as needed for a specific microelectrode by varying the electro-corrosion time. The present method is expected to make microelectrode fabrication a less tedious process. Dissolved oxygen, oxidation-reduction potential and pH microelectrodes have been made using the present method and the microelectrode characteristics were found to be in conformity with those reported by other researchers.

Buffers↗
PubMed2002

Subcutaneous microfabricated surfaces inhibit epithelial recession and promote long-term survival of percutaneous implants.

The long-term success of percutaneous devices is compromised by problems such as infection, mechanical avulsion and epithelial downgrowth. The objective of this study was to test the effects of microfabricated surfaces on tissue integration and long-term survival of percutaneous implants, using a modified implant design and a two-stage surgical method. Hexagonal titanium-coated epoxy implants were constructed with separate subcutaneous and percutaneous components, so that the effects of surface topography on connective tissue could be separated from the effects on epithelium. Subcutaneous components with 30-microm-deep micromachined grooves, 120-microm-deep tapered pits, or smooth control surfaces were secured to the calvarial bone of rats by a titanium pin. After 8 weeks, a percutaneous smooth-surfaced component was secured to the subcutaneous component. Dental impression materials were used to make models of the components and adjacent tissues at weekly intervals and tissue recession around the implants was measured. Some implants were removed at intervals up to 24 weeks and processed for histology. Connective-tissue ingrowth and mineralized tissue were noticed on the micromachined surfaces, whereas a thick capsule and epithelial downgrowth were observed on smooth control surfaces. On all implants, recession occurred most rapidly in the first 3 weeks, but was significantly reduced relative to the smooth controls only on implants with micromachined grooved subcutaneous surfaces (p<0.05). In addition, the time before failure was significantly (p<0.05) longer for implants with grooved subcutaneous surfaces than implants with smooth and pitted subcutaneous surfaces. This study indicated that an impression technique could be used to monitor tissue recession on percutaneous devices, and that micromachined grooved surfaces located subcutaneously improved the performance and longevity of percutaneous devices by promoting tissue integration.

Animals↗
PubMed1978

Augmented recession of the medial recti.

Bimedial rectus recession with measurement from the limbus was combined with conjuctival recession 85 children undergoing surgery for esotropia. Using this augmented recession technique, the prism diopters of correction per millimeter of surgery done were 4.8 compared with 3.2 found in 56 control patients. Postoperatively, the conjunctiva had a satisfactory cosmetic appearance and ductions were normal.

Adolescent↗
PubMed1996

Late overcorrection after inferior rectus recession.

PURPOSE: Describe characteristics and possible etiology of late overcorrection after inferior rectus recession in patients without Graves disease. METHODS: Seven adult patients with initial good alignment (< 5 prism diopters) but an overcorrection 1 month after inferior rectus recession were studied. RESULTS: Two patients had congenital superior oblique paresis, one had traumatic superior oblique paresis, two had orbital fracture, one had strabismus after retinal detachment surgery, and one had hypotropia after cataract surgery. Overcorrection occurred 4 to 6 weeks after surgery, measuring 12 to 25 prism diopters. Six patients with late overcorrection after inferior rectus recession underwent repeat surgery of the inferior rectus muscle. All six patients had scarring of the Lockwood ligament but no muscle slippage. CONCLUSION: Late overcorrection can occur unrelated to Graves ophthalmopathy or a slipped muscle. Postoperative scarring around the Lockwood ligament was identified, which could result in reduced inferior rectus muscle force. It is hypothesized that late scar contracture in the vicinity of the Lockwood ligament could pull the inferior rectus muscle anteriorly, thus slackening the anterior aspect of the muscle. This slackening of the anterior aspect of the inferior rectus muscle would weaken the depression function, thus producing a late overcorrection.

Adult↗
PubMed2004

Recessions lower (some) mortality rates: evidence from Germany.

In his article with the provocative title "Are Recessions Good for Your Health?", Ruhm (J. Health Econ. 21(4) (2000) 659) has found robust and consistent evidence that the total mortality rate, age-specific mortality rates as well as most specific mortality causes are pro-cyclical. His finding that high unemployment rates are associated with lower mortality and vice versa stands in stark contrast to Brenner's earlier work, who found the opposite effect, possibly after a time lag. Ruhm controls for state-specific effects in a panel of US states over the period 1972-1991, whereas Brenner's work is based on time-series analysis. Extending and improving upon Ruhm's original analysis, we analyse the effect of state unemployment and economic growth rates on mortality in the states of Germany over the period 1980-2000, both in a static and a dynamic econometric model. Controlling for state-specific effects, we find evidence that aggregate mortality rates for all age groups taken together as well as most specific age groups are lower in recessions. The same is true for mortality from cardiovascular diseases, pneumonia and influenza, motor vehicle accidents and suicides, but not for necessarily for other specific mortality causes. In particular, there is never a statistically significant effect on homicides, other external effects and malignant neoplasms. There are also few differences apparent between the effect on male and female mortality. If we do not control for state-specific effects, then we often arrive at the opposite result with higher unemployment being associated with higher mortality. This suggests that a failure to control for time-invariant state-specific effects leads to omitted variable bias, which would erroneously suggest that mortality rates move counter-cyclically. Overall, we can confirm Ruhm's main finding for another country: recessions lower some, but not all, mortality rates in the case of Germany.

Adult↗
PubMed1985

Distal ulnar recession for disorders of the distal radioulnar joint.

Thirty-six wrists of 35 patients were treated with distal ulnar recession for pain and limitation of motion associated with chondromalacia of the ulnar head, triangular fibrocartilage complex tears, ulnocarpal impingement, and instability of the distal radioulnar joint. Contributing factors were positive ulnar variance in 31 wrists, fracture of the distal radius in five, sprains in 14, premature closure of the distal radial epiphysis in five, and lax ligamentous habitus in five. The ages of the patients averaged 33 years. Clinical findings were local tenderness, crepitus, and instability evident by a positive "piano key" effect. Roentgenographic findings were positive ulnar variance (29 of 36), zero ulnar variance (four), negative ulnar variance (three), positive arthrogram (11 of 19), and "forme fruste" Madelung's deformity (two). The surgical procedure is a modification of the Milch cuff resection with the use of a dynamic compression plate. Recession ranged from 2 to 13 mm (average of 4 mm). Findings at surgery included chondromalacia of the ulnar head (19), tears of the triangular fibrocartilage complex (11), and excessive mobility of the ulnar head (10). At an average follow-up of 24.5 months, results were excellent in 7 wrists, good in 21, fair in four, and poor in four. Poor results in two wrists were upgraded to good after osteosynthesis of a nonunion in one and recessional osteotomy of the radial sigmoid notch in the other. Ulnar recession offers a less destructive alternative to disorders of the distal radioulnar joint than the Darrach resection.

Adolescent↗
PubMed2003

Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.

Mutations in the ganglioside-induced differentiation-associated protein 1 gene cause either autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A or autosomal recessive axonal Charcot-Marie-Tooth disease with vocal cord paresis. We sequenced the ganglioside-induced differentiation-associated protein 1 gene in 138 patients from 119 unrelated families diagnosed with either demyelinating or axonal autosomal recessive Charcot-Marie-Tooth disease. We detected six distinct mutant alleles in four families, four of which are novel. Electrophysiological studies show severely slowed motor nerve conduction velocities with severely reduced compound muscle action potentials. However, one patient had a normal conduction velocity in the ulnar nerve. Based on the electrophysiological tests, patients with ganglioside-induced differentiation-associated protein 1 mutations will therefore be classified as either axonal or demyelinating Charcot-Marie-Tooth disease. The neuropathological aspect shows a divergent pattern; nerve biopsies taken from two siblings at the same age and sharing the same ganglioside-induced differentiation-associated protein 1 gene mutation showed a dissimilar severity stage.

Alleles↗
PubMed1998

Large-angle exotropia corrected by intraoperative botulinum toxin A and monocular recession resection surgery.

PURPOSE: Surgical correction of large-angle exotropia, greater than 70 PD, traditionally requires operating on three or four horizontal muscles. However, in secondary exotropia from monocular visual loss, it is advisable to operate only on the eye with poor vision. We used intraoperative botulinum toxin as an adjunct to the monocular recession-resection procedure for large-angle sensory exotropia, therefore operating only on the visually impaired eye. METHODS: Three patients underwent monocular recession (10 mm) and resection (10 mm) along with intraoperative botulinum toxin A injection of 10 units into the recessed muscle. All had desired cosmetic repair of long-standing large-angle exotropia (range 100 to 110 PD) with amblyopia and vision worse than 20/200 in the deviated eye. RESULTS: Within 4 days after operation all patients demonstrated maximal paresis of the lateral rectus muscle. This lasted 8 to 12 weeks and resulted in stable orthotropia at 2.5 years in case 1 and stable 8 PD exotropia at 4 years in case 2. The third case demonstrated a stable 18 PD exotropia by 7 months with a satisfactory cosmetic result. CONCLUSION: This technique provides an alternative for the surgical correction of large-angle exotropia by operating only on two horizontal muscles. In sensory exotropia it also avoids subjecting a normal eye to an operative risk.

Adult↗
PubMed1998

Rectus muscle recession and resection without scleral sutures.

PURPOSE: To eliminate the risk of scleral perforation during strabismus surgery in susceptible patients, we introduce a technique to allow predictable rectus muscle recession and resection without the placement of scleral sutures. METHODS: Three patients with thin sclera underwent rectus muscle surgery by use of a double-arm suture technique that avoids placement of sutures directly into the sclera. Two of the patients had esotropia and underwent bilateral lateral rectus muscle resections and a unilateral recess/resect operation, respectively. One of the patients had exotropia and underwent bilateral lateral rectus muscle recessions. RESULTS: All three patients achieved postoperative alignment to within 15 PD of orthotropia and had no evidence of slipped or lost muscle when examined 2 months postoperatively. The appearance of the ocular surface was excellent in all three cases. CONCLUSIONS: Predictable and secure rectus muscle recession and resection can be performed without the placement of scleral sutures in patients in whom scleral suturing may be hazardous.

Aged↗
PubMed1998

Characterization of pharmacodynamic recession slopes for direct and indirect response models.

Direct pharmacologic effects are known to recede over time with largely linear slopes (Levy's k.m product, J. Pharm. Sci. 53:342, 1964) and indirect responses have similar behavior. Pharmacodynamic slope properties were examined mathematically for the Hill function with monoexponential drug disposition and simulations were carried out for other pharmacokinetic functions. Both types of pharmacodynamic profiles exhibit a single terminal inflection point (fp) when drug concentrations exceed the EC50 (that concentration causing one-half maximum effect, Emax). For direct effects it was found that Cfp (the drug concentration at fp) = EC50, the determinants of inflection time were identified, and Slopefp = -lambda z gamma Emax/4 where lambda z is the terminal disposition slope and gamma is the Hill coefficient. These characteristics were explored for the four basic indirect response models which also exhibit recession profiles with slight sigmoidity and a single terminal inflection point at higher doses. The drug concentration at inflection Cfp is < or = IC50 or SC50 (drug concentrations causing half-maximal inhibition or stimulation), while the inflection response (Rfp) attains constant values at larger doses. Indirect Response Models I, III, and IV have nearly linear return slopes for a wide range of doses which are governed by the disposition slope lambda z of the drug, loss constant kout of the response, maximum inhibition (Imax) or stimulation (Smax) factors, and a unique fractional constant (0 < G < or = 1). Model II exhibits more complex behavior with recession slopes which are less likely to be parallel for various doses. Most indirect responses are expected to show nearly linear recession slopes which are parallel for moderate to large doses and mainly governed by an identical combination of pharmacokinetic (lambda z), system (kout), and dynamic capacity factors (Imax or Smax).

Models, Biological↗
PubMed1987

Loop recession of the recti muscles.

Scleral penetration with a suture needle is a well recognised risk of the surgical treatment of strabismus and may result in serious intra-ocular complications. The risk should be reduced by loop recession, a procedure derived from the adjustable suture technique. In practice in many cases this operation has also been found to have other advantages compared to a conventional recession. The surgical details of loop recession are described and the results obtained in 62 patients reviewed.

Adolescent↗
PubMed1995

Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution.

Alport syndrome (AS) is an hereditary disease of basement membrane collagen. It is mainly transmitted as a dominant X-linked trait and caused by mutations in the COL4A5 gene encoding the alpha 5 chain of type IV collagen. However, autosomal recessive AS due to mutations in the COL4A3 or COL4A4 genes could represent up to 15% of AS. Using the immunofluorescence technique, we analyzed the distribution of the different chains of type IV collagen in renal (12 specimens) and skin (4 specimens) basement membranes of 12 AS patients belonging to 11 unrelated kindreds in which autosomal recessive inheritance had been demonstrated (3 kindreds) or was suggested by clinical and genealogic data (8 kindreds). The renal and skin distribution was normal in one patient with COL4A4 mutations. A peculiar pattern of distribution of the alpha 3-alpha 5(IV) chains was observed in the other patients. It was characterized the co-absence of the alpha 3(IV), alpha 4(IV) and alpha 5(IV) chains in the glomerular basement membrane, and the presence of the alpha 5(IV) chain in a series of extraglomerular basement membranes including capsular, collecting ducts and epidermal basement membranes, a combination never observed in X-linked AS. This immunohistochemical pattern is correlated with the specific distribution of the alpha 3-alpha 5 chains of type IV collagen chains within extraglomerular basement membranes. It could be a useful marker for the identification of autosomal recessive AS.

Adolescent↗
PubMed2005

Bimedial hang-back recession -- outcomes and surgical response.

AIM: To report outcomes and identify factors affecting surgical response for constant esotropia using 'hang-back' bimedial rectus recession. STUDY TYPE: Retrospective case series analysis. METHODS: Patients managed by a single surgeon over a 4-year study period were categorized into esotropia types: infantile, partially accommodative, nonaccommodative and secondary esotropia. Postoperative alignment was compared between types, and regression modelling used to examine factors predicting surgical response. RESULTS: In all, 95% (18/19) of children with partially accommodative esotropia achieved postoperative deviation <15 prism dioptres from orthotropia, compared to 56% (15/27) of children with infantile esotropia, 69% (11/16) of children with non-accommodative esotropia and all (2/2) of those with secondary esotropia. Surgical response (Delta/mm recession performed) increased with the magnitude of both preoperative deviation (P<0.001) and anisometropia (P<0.001); the effect of deviation on surgical response was reduced by amblyopia (P=0.02). Age at surgery was statistically associated (P=0.002) but had negligible clinical effect on response. CONCLUSIONS: Surgical response to hang-back recession may be partially predicted by preoperative factors.

Accommodation, Ocular↗
PubMed1998

Abnormal transglutaminase 1 expression pattern in a subset of patients with erythrodermic autosomal recessive ichthyosis.

An autosomal recessive ichthyosis characterized by collodian membrane at birth followed by generalized skin redness and fine, light-colored scales has been termed nonbullous congenital ichthyosiform erythroderma (CIE). CIE has often been classified together with the other major form of recessive ichthyosis without internal organ involvement, lamellar ichthyosis, which is characterized by minimal erythema and a coarser, darker scale pattern. Recently, autosomal recessive ichthyosis has been associated with keratinocyte transglutaminase (TGase1) defects in some patients. This group of diseases, however, is genetically heterogeneous and TGase1 abnormalities in CIE have not been clearly described. Therefore we examined TGase1 expression in five patients with CIE and three with classic lamellar ichthyosis. Although lamellar ichthyosis patients displayed no TGase1 expression, an abnormal intracellular accumulation of TGase1 was observed in four of five CIE patients. This finding was specific and was not observed in other skin disorders characterized by erythema and abnormal cornification, including erythrodermic psoriasis, atopic dermatitis, epidermolytic hyperkeratosis, and Netherton's syndrome. CIE keratinocytes with abnormal TGase1 localization expressed full-length TGase1 mRNA and protein but demonstrated transglutaminase activity intermediate between normal and the minimal activity seen in lamellar ichthyosis patient cells. The abnormal TGase1 expression pattern and CIE clinical features were recapitulated in epidermis regenerated in vivo on immune deficient mice from CIE patient keratinocytes. These studies describe a specific abnormality in TGase1 intrinsic to keratinocytes in a subset of CIE patients and suggest that this abnormality may be involved in the disordered epidermal differentiation seen in this disorder.

Humans↗
PubMed1998

Recessive x-linked ichthyosis: role of cholesterol-sulfate accumulation in the barrier abnormality.

Cholesterol sulfate is a multifunctional sterol metabolite, produced in large amounts in squamous keratinizing epithelia. Because patients with recessive x-linked ichthyosis display not only a 10-fold increase in cholesterol sulfate, but also a 50% reduction in cholesterol, we assessed here whether cholesterol sulfate accumulation and/or cholesterol deficiency produce abnormal barrier function in recessive x-linked ichthyosis. Patients with recessive x-linked ichthyosis display both an abnormal barrier under basal conditions, and a delay in barrier recovery after acute perturbation, which correlate with minor abnormalities in membrane structure and extensive lamellar-phase separation. Moreover, both the functional and the structural abnormalities were corrected by topical cholesterol. Yet, topical cholesterol sulfate produced both a barrier abnormality in intact skin and extracellular abnormalities in isolated stratum corneum, effects largely reversed by coapplications of cholesterol. Together, these results suggest that cholesterol sulfate accumulation rather than cholesterol deficiency is responsible for the barrier abnormality. Despite the apparent importance of cholesterol sulfate-to-cholesterol processing for normal barrier homeostasis, neither steroid sulfatase activity nor mRNA levels are upregulated following acute perturbations. These results demonstrate both a potential role for cholesterol sulfate-to-cholesterol processing in normal permeability barrier homeostasis, and that basal levels of steroid sulfatase are sufficient to accommodate acute insults to the permeability barrier.

Administration, Topical↗
PubMed1998

CLCN5 mutation Ser244Leu is associated with X-linked renal failure without X-linked recessive hypophosphatemic rickets.

This study demonstrates that a missense mutation in the voltage gated chloride channel, CLCN5, can cause X-linked renal failure without X-linked recessive hypophosphatemic rickets. A large kindred (Family A), initially evaluated in 1974 with an inherited syndrome characterized by hypercalciuria, nephrocalcinosis, low molecular weight proteinuria, renal tubular acidosis, and renal failure, was clinically re-evaluated and genetically characterized. Medical histories, physical examinations, blood chemistries, and 24-hour urine collections were obtained from 48 family members. Both female and male family members exhibited hypercalciuria, nephrolithiasis, and low molecular weight proteinuria. However, only men developed renal insufficiency, consistent with an X-linked recessive gene defect. Genetic linkage located the disease locus on the proximal short arm of the X chromosome (Xp11) where a voltage gated chloride channel gene, CLCN5, had previously been mapped. DNA sequence of the CLCN5 gene demonstrated a missense mutation (Ser244Leu) in affected family members. The same missense mutation has previously been shown to cause X-linked recessive hypophosphatemic rickets. No affected member of Family A had evidence of chronic hypophosphatemia, clinically significant rickets, or osteomalacia. We hypothesize that genetic background, environment, diet, or an unidentified modifying gene may account for the differing phenotypes resulting from this shared gene defect.

Adolescent↗