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PubMed2006

Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1.

BACKGROUND: High myopia is a common genetic variation in most cases, affecting 1-2% of people, and is the fourth most common disorder causing blindness worldwide. Six autosomal dominant loci and one X-linked recessive locus have been reported, but no genes responsible for high myopia have been identified. OBJECTIVE: To report a Chinese family in which six males presented with high myopia consistent with an X linked recessive trait. RESULTS: Affected individuals shared three common features: high myopia, reduced visual acuity, and fundal changes of high myopia. Protan and deutan were observed in the family, but they did not co-segregate with the high myopia phenotype. X-chromosome-wide linkage analysis mapped the high myopia locus to a 25 cM (14.9 Mb) region on Xq23-q25 between DXS1210 and DXS8057, with maximum two point lod scores at theta = 0 of 2.75 and 2.29 for DXS1001 and DXS8059, respectively. CONCLUSIONS: This new myopia locus is outside the linked region of the first high myopia locus (MYP1). Refinement of the linkage region with additional families and screening candidate genes for mutation may lead to the identification of the defect gene.

Adult↗
PubMed1990

Autosomal recessive epidermolytic palmoplantar keratoderma.

Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a well delineated autosomal dominant entity, but no recessive form is known. Here we report two sons of phenotypically normal, consanguineous, Arab parents with features suggestive of PPK. They presented with patchy eczematous skin lesions followed by PPK and raised serum levels of IgE. Skin biopsy from the keratotic lesions showed the features of epidermolytic hyperkeratosis. Autosomal recessive inheritance is suggested and the differential diagnosis is discussed.

Child, Preschool↗
PubMed1993

Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families.

The autosomal recessive limb-girdle muscular dystrophies (LGMD) represent a heterogeneous group of diseases which may be characterised by one or more autosomal loci. A gene at 15q has recently been found to be responsible for a mild form of LGMD in a group of families from the isolated island of Réunion, now classified as LGMD2. Based on results of eight out of 11 large Brazilian LGMD families of different racial background (which were informative for the closest available probe to the LGMD2 gene), we confirmed linkage to the LGMD2 gene at 15q in two of these families and exclusion in six others. These data provide the first evidence of genetic heterogeneity for the autosomal recessive limb-girdle muscular dystrophies.

Brazil↗
PubMed1997

Two families with autosomal recessive spastic paraplegia, pigmented maculopathy, and dementia.

OBJECTIVE: Two families with autosomal recessive hereditary spastic paraplegia and pigmented maculopathy are described. METHODS: All family members were examined by two neurologists. An assessment of cognitive function in affected members was made using the mini mental state examination (MMSE) or Cambridge cognitive examination (CAMCOG). RESULTS: Six patients from two families presented with a slowly progressive, autosomal recessive, spastic tetraplegia. Although they were always considered to be intellectually slower than their peers, further intellectual deterioration was noted during the second decade. Five had a pigmented maculopathy with mild decrease in visual acuity and all had distal amyotrophy, mild cerebellar signs, and developed faecal and urinary incontinence late in the course of the disease. CONCLUSION: The association of hereditary spastic paraplegia and pigmented maculopathy has rarely been described; only 11 families with 32 affected members have been reported, showing considerable heterogeneity in presentation. These described conditions may be allelic or more probably reflect mutations at different genetic loci.

Adult↗
PubMed2001

Anterolateral ankle impingement: mr arthrographic assessment of the anterolateral recess.

PURPOSE: To determine the accuracy of magnetic resonance (MR) arthrography in assessing the anterolateral recess of the ankle. MATERIALS AND METHODS: Thirty-two patients with chronic ankle pain prospectively underwent gadolinium-enhanced MR arthrography of the tibiotalar joint. All underwent clinical examination and were included if anterolateral impingement (n = 13) or a control condition (n = 19; suspected osteochondral defect, intraarticular bodies, instability, osteoarthritis) was diagnosed. MR imaging included transverse and coronal T1-weighted and sagittal T2-weighted imaging sequences. Images were prospectively analyzed by two readers blinded to the clinical diagnosis. The anterolateral gutter contour was assessed. MR arthrographic findings were correlated with subsequent arthroscopic appearances. RESULTS: MR arthrographic assessment of the anterolateral soft tissues had an accuracy of 97%, sensitivity of 96%, specificity of 100%, negative predictive value of 89%, and positive predictive value of 100%. Accuracy was 100% with clinical anterolateral impingement, with an arthroscopically confirmed abnormality in 12 cases and a normal appearance in one. Anterolateral soft-tissue thickening was identified at MR arthrography in 11 control cases, with arthroscopic confirmation in all. The remaining cases had normal appearances, with an arthroscopic soft-tissue abnormality in one case and a normal appearance in seven. CONCLUSION: MR arthrography of the tibiotalar joint is accurate in assessing the anterolateral recess of the ankle.

Adolescent↗
PubMed1981

Neuroradiological evaluation of lateral recess syndrome.

Fifty asymptomatic patients and 35 with surgically proved lateral recess syndrome (LRS) were studied retrospectively to determine the depth of the normal and abnormal lateral recess. Plain radiography, polytomography, CT, and myelography of the lumbosacral area were performed. The normal and abnormal ranges are presented and the role of the various radiographic procedures in the diagnosis of LRS is discussed.

Humans↗
PubMed1987

Improved fabrication of double-barreled recessed cathode O2 microelectrodes.

Polarographic recessed cathode gold microelectrodes are the preferred type of O2 microelectrode for tissue measurements, but the method originally described for their construction is difficult. An improved method of constructing such electrodes consists of several steps: 1) insertion of a rod made of a special low-melting point alloy into a pulled glass micropipette, 2) heating of the electrode tip as the alloy is pushed toward the tip, 3) beveling, and 4) gold plating the alloy, leaving a recess of the desired length. This method can be used to make single- or double-barreled electrodes in which the O2 barrel is as small as 2-3 micron. The electrodes retain their characteristics for several weeks.

Equipment Design↗
PubMed2006

Inlaying nanoscale surface recess patterns with nanoscale objects.

A simple and versatile approach to constructing patterns on a solid surface using nanoscale objects is demonstrated. The approach is essentially an inlaying process, in which recess patterns fabricated on a surface are selectively filled with nanoscale objects. The objects are anchored firmly on the surface due to the spatial confinement provided by the recess structures. Protein molecules and inorganic nanoparticles are used in this demonstration. Cyclic voltammetry is used to detect electron transfer signals from patterns of protein molecules. The approach suggests a potentially fast, high-throughput and versatile technique for constructing architectural structures on a solid surface using nanoscale objects.

Electrochemistry↗
PubMed1994

Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin.

Dystrophin is associated with several novel sarcolemmal proteins, including a laminin-binding extracellular glycoprotein of 156 kD (alpha-dystroglycan) and a transmembrane glycoprotein of 50 kD (adhalin). Deficiency of adhalin characterizes a severe autosomal recessive muscular dystrophy prevalent in Arabs. Here we report for the first time two mongoloid (Japanese) patients with autosomal recessive muscular dystrophy deficient in adhalin. Interestingly, adhalin was not completely absent and was faintly detectable in a patchy distribution along the sarcolemma in our patients. Although the M and B2 subunits of laminin were preserved, the B1 subunit was greatly reduced in the basal lamina surrounding muscle fibers. Our results raise a possibility that the deficiency of adhalin may be associated with the disturbance of sarcolemma-extracellular matrix interaction leading to sarcolemmal instability.

Adult↗
PubMed1989

Dimensions of the extended facial recess.

The variability of the dimensions of the facial recess and extended facial recess with age, sex, and degree of pneumatization was measured in 87 temporal bones serially sectioned in the horizontal plane. Although some statistically significant differences in dimensions were identified, the absolute differences were small compared to the range of measurements. The mean dimensions were very similar in all groups studied. The clinical relevance of the data to mastoid surgery and cochlear implantation is discussed.

Adult↗
PubMed1996

The chemical composition of tooth enamel in recessive dystrophic epidermolysis bullosa: significance with respect to dental caries.

Previous reports have linked the prevalence of tooth abnormalities with high caries experience in the different types of epidermolysis bullosa (EB). However, it is not known to what extent the apparent susceptibility to enamel caries is due to disease-related altered enamel chemistry in these cases. The aim of this study was to characterize the enamel of teeth from patients suffering from recessive epidermolysis bullosa dystrophica (rEBD) in terms of its mineral content, carbonate content, protein content, and amino acid composition. The results showed that dental enamel from these patients was essentially normal in terms of its chemistry. It is therefore concluded that the high caries experience in recessive dystrophic epidermolysis bullosa patients is probably related to other factors, such as compromised oral hygiene and prolonged oral clearance due to extensive oral soft tissue damage and a cariogenic diet.

Amino Acids↗
PubMed1976

The lateral recess of the fourth ventricle examined with a water-soluble contrast medium.

Difficulties still remain in the routine radiologic examination of the lateral recesses of the fourth ventricle. Ventriculography with the direct introduction of water-soluble contrast medium into the third ventricle has improved the results. The normal anatomic and radiologic appearances and pathologic changes of the lateral recesses are discussed.

Brain Neoplasms↗
PubMed2004

Surgical anatomy of the gastrocnemius recession (Strayer procedure).

BACKGROUND: The Strayer procedure (gastrocnemius recession) is a treatment option for patients with clinically relevant gastrocnemius equinus contracture. The purpose of this study was to review the surgical anatomy of the Strayer procedure with specific reference to 1) the location of the sural nerve, and 2) the gastrocnemius tendon release point. METHODS: Forty consecutive Strayer procedures in 33 patients (15 males, 18 females) served as the study group. Recorded measurements included: 1) the location of the sural nerve relative to the deep fascia, 2) the distance from the medial border of the gastrocnemius tendon to the sural nerve, and 3) the distance from the distal end of the gastrocnemius muscle belly (identified by surface landmarks) to the actual release site. RESULTS: At the point of the gastrocnemius release, the sural nerve was located superficial to the fascia in 17/40 legs (42.5%) and deep to the fascia in 23/40 legs (57.5%). In five legs (12.5%), the nerve was directly applied to the gastrocnemius tendon and needed to be gently dissected off the tendon. The gastrocnemius release point was located an average of 18 mm distal (range, 20 mm proximal to 57 mm distal) to the surface landmark created by the distal extent of the gastrocnemius muscle belly. CONCLUSION: Knowledge of the relevant anatomy associated with the gastrocnemius recession should allow surgeons to minimize the rate of sural nerve injuries and improve cosmesis by decreasing the length of the surgical incision. A posteromedial incision that begins 2 cm distal to the gastrocnemius indentation and extends proximally will minimize the length of the incision required.

Achilles Tendon↗
PubMed2004

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders.

BACKGROUND: Cerebral palsy (CP) is an heterogeneous group of neurological disorders of movement and/or posture, with an estimated incidence of 1 in 1000 live births. Non-progressive forms of symmetrical, spastic CP have been identified, which show a Mendelian autosomal recessive pattern of inheritance. We recently described the mapping of a recessive spastic CP locus to a 5 cM chromosomal region located at 2q24-31.1, in rare consanguineous families. METHODS: Here we present data that refine this locus to a 0.5 cM region, flanked by the microsatellite markers D2S2345 and D2S326. The minimal region contains the candidate gene GAD1, which encodes a glutamate decarboxylase isoform (GAD67), involved in conversion of the amino acid and excitatory neurotransmitter glutamate to the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). RESULTS: A novel amino acid mis-sense mutation in GAD67 was detected, which segregated with CP in affected individuals. CONCLUSIONS: This result is interesting because auto-antibodies to GAD67 and the more widely studied GAD65 homologue encoded by the GAD2 gene, are described in patients with Stiff-Person Syndrome (SPS), epilepsy, cerebellar ataxia and Batten disease. Further investigation seems merited of the possibility that variation in the GAD1 sequence, potentially affecting glutamate/GABA ratios, may underlie this form of spastic CP, given the presence of anti-GAD antibodies in SPS and the recognised excitotoxicity of glutamate in various contexts.

Cerebral Palsy↗
PubMed2002

Melatonin enters the cerebrospinal fluid through the pineal recess.

The pineal recess (PR), a third ventricle (IIIV) evagination penetrating into the pineal gland, could constitute a site of melatonin passage to the cerebrospinal fluid (CSF) and explain the high concentrations of melatonin in this fluid. To test this hypothesis, we characterized melatonin distribution in the IIIV of sheep by CSF collection in the ventral part of IIIV (vIIIV) and in PR. At 30 microl/min collection rate, melatonin concentrations were much higher in PR than in vIIIV (19,934 +/- 6,388 vs. 178 +/- 70 pg/ml, mean +/- SEM, respectively, P < 0.005), and they increased in vIIIV when CSF collection stopped in the PR (P < 0.05). At 6 microl/min, levels increased to 1,682 +/- 585 pg/ml in vIIIV and were not influenced by CSF collection in the PR. This concentration difference between sites and the influence of PR collection on vIIIV levels suggest that melatonin reaches the PR and then diffuses to the IIIV. To confirm the role of PR, we demonstrated that its surgical sealing off decreased IIIV melatonin levels (1,020 +/- 305 pg/ml, compared with 5,984 +/- 1,706 and 6,917 +/- 1,601 pg/ml in shams or animals with a failed sealing off, respectively, P < 0.01) without changes in blood levels. Therefore, this study identified the localization of the main site of penetration of melatonin into the CSF, the pineal recess.

Animals↗
PubMed2004

Differential cellular handling of defective arginine vasopressin (AVP) prohormones in cells expressing mutations of the AVP gene associated with autosomal dominant and recessive familial neurohypophyseal diabetes insipidus.

An unusual mutation in the arginine vasopressin (AVP) gene, predicting a P26L amino acid substitution of the AVP prohormone, is associated with autosomal recessive familial neurohypophyseal diabetes insipidus (FNDI). To investigate whether the cellular handling of the P26L prohormone differed from that of the Y21H prohormone associated with autosomal dominant inheritance of FNDI, the mutations were examined by heterologous expression in cell lines. Immunoprecipitation demonstrated retarded processing and secretion of the Y21H prohormone, whereas the secretion of the P26L prohormone seemed to be unaffected. Confocal laser scanning microscopy showed accumulation of the Y21H prohormone in the endoplasmic reticulum, whereas the P26L prohormone and/or processed products were localized in secretory granules in the cellular processes. RIA analysis showed reduced amounts of immunoreactive Y21H-AVP and P26L-AVP in the cell culture medium. Thus, the recessive mutation does not seem to affect the intracellular trafficking but rather the final processing of the prohormone. Our results provide an important negative control in support of the hypothesis that autosomal dominant inheritance of FNDI is caused by mutations in the AVP gene that alter amino acid residues important for folding and/or dimerization of the neurophysin II moiety of the AVP prohormone and subsequent transport from the endoplasmic reticulum.

Arginine Vasopressin↗
PubMed1991

Autosomal recessive distal dystrophy.

We describe five new cases of autosomal recessive distal dystrophy (Miyoshi myopathy) and emphasize the distinctive clinical and laboratory features of this unusual muscular dystrophy. Symptoms began at age 15 to 25, the gastrocnemius muscles were selectively involved, and creatine kinase was elevated more than 10 times normal. The EMG showed abundant brief motor units with numerous fibrillations. Dystrophic features without vacuoles were best seen in the biceps femoris muscle. Asymptomatic creatine kinase elevation was present years prior to the development of weakness. The disorder appears to be inherited in an autosomal recessive pattern. Miyoshi myopathy can be distinguished from other distal muscular dystrophies. We propose a new classification for the distal muscular dystrophies.

Adolescent↗
PubMed1993

Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families.

Friedreich's ataxia (FA) is an autosomal recessive neurodegenerative disorder, the disease locus (FRDA) of which has been assigned to 9q13-q21.1 by genetic linkage analysis in affected families. We report two large inbred Tunisian families with FA manifestations that did not show the expected linkage. The disease locus could be excluded from a large (12 cMo) region around FRDA. This is the first report providing evidence for nonallelic genetic heterogeneity for the FA clinical phenotype. On subsequent analysis, all patients had very low levels of serum vitamin E whereas the parents and healthy sibs had normal vitamin E levels. This establishes that the selective vitamin E deficiency with normal fat absorption is an autosomal recessive trait, which is associated in the two families reported here with the FA phenotype.

Adult↗