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Biomedical subjects

G C Robin

Publications and source records attributed to G C Robin.

At least 19 recordsLinked to original sources
PubMed2000

The evolution of an alpha-esterase pseudogene inactivated in the Drosophila melanogaster lineage.

Previous analyses of the alpha-esterase cluster of Drosophila melanogaster revealed 10 active genes and the DmalphaE4a-Psi pseudogene. Here, we reconstruct the evolution of the pseudogene from the sequences of 12 alleles from widely scattered D. melanogaster populations and single alleles from Drosophila simulans and Drosophila yakuba. All of the DmalphaE4a-Psi alleles contain numerous inactivating mutations, suggesting that pseudogene alleles are fixed in natural populations. Several lines of evidence also suggest that DmalphaE4a is now evolving without selective constraint in the D. melanogaster lineage. There are three polymorphic indels which result in frameshifts; a key nucleotide of the intron splice acceptor is polymorphic; the neutral mutation parameter is the same for replacement and silent sites; one of the nonsilent polymorphisms results in a stop codon; only 1 of the 13 replacement polymorphisms is biochemically conservative; residues that are conserved among active esterases have different states in DmalphaE4a-Psi; and there are about half as many transitional polymorphisms as transversional ones. In contrast, the D. simulans and D. yakuba orthologs DsalphaE4a and DyalphaE4a do not have the inactivating mutations of DmalphaE4a-Psi and appear to be evolving under the purifying selection typical of protein- encoding genes. For instance, there have been more substitutions in the introns than in the exons, and more in silent sites than in replacement sites. Furthermore, most of the amino acid substitutions that have occurred between DyalphaE4a and DsalphaE4a are located in sites that typically vary among active alpha-esterases rather than those that are usually conserved. We argue that the original alphaE4a gene had a function which it has lost since the divergence of the D. melanogaster and D. simulans lineages.

Amino Acid Sequence↗
PubMed1999

Carboxyl/cholinesterases: a case study of the evolution of a successful multigene family.

The evolution of organismal diversity among the Metazoa is dependent on the proliferation of genes and diversification of functions in multigene families. Here we analyse these processes for one highly successful family, the carboxyl/cholinesterases. One key to the expansion of the functional niche of this group of enzymes is associated with versatile substrate binding and catalytic machinery. Qualitatively new functions can be obtained by substitution of one or a very few amino acids. This crudely adapted new functionality is then refined rapidly by a pulse of change elsewhere in the molecule; in one case about 13% amino acid divergence occurred in 5-10 million years. Furthermore, we postulate that the versatility of the substrate binding motifs underpins the recruitment of several family members to additional noncatalytic signal transduction functions.

Animals↗
PubMed1998

An algorithm for selection of instrumentation levels in scoliosis.

Appropriate levels for instrumentation and fusion in scoliosis have been a matter of debate among surgeons since the introduction of operative management of this deformity. We set out to examine the hypothesis that the amount of correction achieved in all planes during surgical instrumentation of a curve should be less than, or comparable to, the degree of correction attainable at any non-instrumented adjacent curve. An algorithm was designed to facilitate preoperative planning and intraoperative performance of spinal fusion procedures in the management of scoliosis. To test the validity of the hypothesis and the proposed algorithm, measurements were taken from the preoperative radiographs of 200 patients. The dimensions of the curves were obtained from an initial set of four X-ray films: (1) standing anteroposterior film of the whole spine, (2) standing lateral film of the whole spine, (3) two properly performed side-bending films including each curve of the spine. With this data, a plan was designed using the algorithm. The results of this plan were compared with the actual results of the surgery, which were revealed only at this stage. All patients in whom actual instrumentation levels fell within those predicted by the proposed algorithm had no imbalance at follow-up. All patients whose actual instrumentation levels were short of those recommended by the algorithm showed obvious imbalance on final postoperative standing radiograph.

Adolescent↗
PubMed1997

Aspects of spinal deformity in familial dysautonomia (Riley-Day syndrome).

Familial dysautonomia (FD) is a rare autosomal recessive disease occurring in Jews of Ashkenazi descent, with only some 500 recognized cases. The causative gene was identified on chromosome 9. FD is of considerable orthopedic interest, because of the prevalence of skeletal deformity. About 90% of surviving dysautonomic children will develop a spinal curvature, commonly a scoliosis. The scoliotic curve is usually kyphotic rather than lordotic, and appears during the first decade of life. Fifty-one of the 90 reported cases of familial dysautonomia in Israel involved patients who were seen at the scoliosis clinic for assessment and treatment of their spinal deformities. Most of the patients presented with a scoliotic deformity associated in 37 cases with an increased thoracic kyphosis. In our series orthotic treatment and physiotherapy were found to be minimally successful at best. Surgical treatment of the spine was performed in 13 of 51 patients in this series. A retrospective review of these patients' charts and radiographs was carried out. Six years of follow-up are reported. The primary indication for surgery was progression of the spinal curve. Only posterior spinal fusions were performed. Anterior transthoracic procedures were avoided in spite of the significance of the kyphotic deformity, because of the frequency of pulmonary complications. Harrington distraction and compression instrumentation was used. Three-millimeter compression rods were used in a distraction mode in thin, young children. "Harri-Luque" segmental sublaminar wiring technique and Wisconsin spinous process segmental wiring was used in some. In all cases, the spine fusion was supplemented by bank bone only, to avoid the additional trauma of graft removal. We believe that surgical intervention is advantageous, if done early in the evolution of spinal deformity. Greater technical difficulties and a higher complication rate were encountered in this series relative to the problems usually seen after spinal deformity surgery in children; this is all the more important in a disease in which general anesthesia is an additional major complicating factor. It is hoped that the improved physical condition now seen after early gastrostomy and fundoplication will aid in reducing this high complication rate. Only a small degree (about 25%) of correction was achieved in the majority of patients. Some of this apparent rigidity derived from the inability to apply sufficient instrumental corrective force because of the friable osteoporotic bone. After surgery, there was a marked decrease in the frequency of pneumonia and an improvement in the degree of ataxia, for reasons not understood, which led to an obvious improvement in the quality of life.

Adolescent↗
PubMed1997

Eosinophilic granuloma of the spine.

Twenty patients treated for eosinophilic granuloma of the spine were studied. Only 40% demonstrated the classical radiographic picture of vertebra plana. In 60% a lytic lesion of the vertebral body or the posterior elements was found. Seven patients underwent surgery; the indications were neurological involvement or failure of the biopsy to disclose the diagnosis. At an average follow-up period of 7 years, 17 patients are well and alive with no residual spinal pain, neurological compromise, recurrent disease, or extraskeletal involvement. Vertebral body collapse underwent some regeneration but did not regain full body height. In several patients this resulted in a local deformity. In patients with unifocal spinal eosinophilic granuloma, watchful observation with no treatment other than spinal support is warranted. In patients with neural involvement or multifocal lesions, a more active treatment, including surgery, may be indicated.

Adolescent↗
PubMed1996

Molecular cloning of an alpha-esterase gene cluster on chromosome 3r of Drosophila melanogaster.

All or part of the alpha-esterase gene cluster in Drosophila melanogaster has been isolated by screening a YAC clone that spans cytological region 84D3-10 with consensus carboxyl/cholinesterase oligonucleotides. The cluster encompasses 11 putative esterase genes within 65 kb of genomic DNA and is one of the largest clusters of related protein-coding genes yet reported in Drosophila. The cluster must include the gene encoding the major alpha-esterase isozyme, EST9, which has previously been mapped to 84D3-5. It probably also includes the genes encoding the EST23, MCE and ALI esterases that have previously been mapped to 84D3-E2. The latter three are homologs of genes involved in organophosphate insecticide resistance in the sheep blowfly, Lucilia cuprina and the housefly, Musca domestica. Sequencing of one of the putative esterase genes in the Drosophila cluster, alpha E1, shows that it would encode features characteristic of an active carboxyl/cholinesterase, including the so-called catalytic triad, the nucleophilic elbow and oxyanion hole. It also shows that the closest relative of alpha E1 amongst previously published esterase sequences is ESTB1, which confers organophosphate resistance in Culex mosquitoes. We argue that we have cloned the D. melanogaster version of a major cluster of esterase genes which have variously mutated to confer organophosphate resistance in diverse Diptera.

Amino Acid Sequence↗
PubMed1996

The relationship between degenerative changes and osteoporosis in the lumbar spine.

Degenerative changes in the spine, specifically disc degeneration and facet arthrosis, and osteoporosis are conditions that primarily affect the elderly and may significantly impact the quality of life. The relationship between osteoporosis and degenerative changes in the hip joint has been studied, but their correlation in the spine is not entirely clear. Two hundred ninety-four subjects older than 50 years of age were retrospectively studied for the existence of lumbar spinal degeneration and osteoporosis through radiologic examination for 3 clinical manifestations: (1) disc degeneration, (2) facet joint arthrosis, and (3) lumbar osteoporosis. Peripheral osteoporosis in the distal radius of the nondominant hand was measured using a single-photon bone absorptiometer. Results indicated that subjects with severe osteoporosis in the distal radius also had severe degenerative changes in the discs and the facets; those with mild osteoporosis in the distal radius showed a tendency to have a lesser degree of degenerative changes than the subjects without osteoporosis.

Absorptiometry, Photon↗
PubMed1994

Prognostic factors in anterior decompression for metastatic cord compression. An analysis of results.

During the 10-year period 1981-1990, 59 patients suffering from spinal cord or cauda equina compression underwent anterior spinal decompression and in most cases spinal restabilization with methylmethacrylate cement and/or instrumentation. Follow-up in 55 patients showed that 75% were improved neurologically by the procedure, one-third of these showing complete recovery from the spinal cord compression. The results in younger female patients suffering from metastatic breast cancer were considerably better than those of older men with prostatic metastases. Other genitourinary system tumors also had a relatively poorer prognosis. There was a significantly better result for metastatic lesions of the thoracic or thoracolumbar spine than for lesions in the lumbar spine causing cauda equina paralysis.

Adult↗
PubMed1994

Cure of the limp in children with congenital dislocation of the hip and ischaemic necrosis. Fifteen cases treated by trochanteric transfer and contralateral epiphysiodesis.

Fifteen patients who limped and had early fatigue on walking caused by ischaemic necrosis after treatment for congenital dislocation of the hip had distal and lateral transfer of the greater trochanter. Nine of them in whom the predicted leg-length discrepancy was more than 3 cm also had epiphysiodesis of the contralateral leg. At skeletal maturity the limp was eliminated and walking distance was significantly improved in them all. In those who had epiphysiodesis the average leg-length discrepancy was 0.7 cm at maturity. Two of those not treated by epiphysiodesis used a heel raise of 1.5 cm. In seven cases the two operations were performed simultaneously without serious complications. This procedure is recommended at about the age of 12 years.

Adolescent↗
PubMed1993

Osteoporosis management and hospital strategy.

As the patient population grows, strategies for preventing osteoporosis and for improving its management are urgently needed. Coordinating the efforts of existing hospital programs may help to meet these goals.

Adult↗
PubMed1993

The logic of imaging in spine surgery.

Spinal imaging has rapidly evolved into a complex diagnostic field requiring specialized expertise. While many imaging modalities reveal portions of a topographic map of the spine necessary for surgery, only magnetic resonance imaging emerges as the imaging modality of widest and most efficacious first choice. With the increasing high-technology sophistication of modern imaging modalities, the spine surgeon must become completely conversant with the radiologic data produced by these imaging techniques. The authors present a logical approach to spinal imaging--an algorithm--based on etiologic classification and aimed at conserving medical resources and developing an optimal diagnostic pathway for spine injury and disease. Spine surgeons are urged to incorporate the interpretative insights of radiologists into the diagnostic process.

Algorithms↗
PubMed1991

Pyogenic vertebral osteomyelitis with paralysis. Prognosis and treatment.

In the interval between 1983 and 1988, 14 patients were treated for pyogenic spondylitis complicated by neurologic compromise. There were nine males and five females aged 39-80 years. The average time between onset of symptoms and diagnosis was 2.8 months. Predisposing factors were diabetes mellitus in four patients and urinary tract infections in five patients. The infection was blood borne in all 14 patients. In two patients, the infection was superimposed on a recent vertebral fracture. The cervical spine was involved in one patient; the thoracic spine in seven; and the lumbar spine in six patients. Six patients presented with a Frankel B paralysis, six with a Frankel C paralysis, and two with grade D paralysis. The neurologic symptoms lasted between one day and six weeks before surgery. Twelve patients had anterolateral decompression. Two of the 12 patients had a second stage posterior stabilization. Two patients were deemed inoperable. All surviving patients were managed by parenteral antibiotics for three to six weeks followed by enteral route for a total of three to six months. All 12 operated patients had a significant neurologic improvement (one grade or more on the Frankel scale) with solid interbody fusion.

Adult↗
PubMed1987

Spondylolysis in the upper lumbar spine. A study of 32 patients.

Reports of spondylolysis in vertebrae other than those of the lower lumbar spine are rare. We report 32 patients with upper lumbar spondylolysis who have been studied clinically, radiologically and scintigraphically. Twenty patients had bilateral lesions, and seven of those with unilateral lesions had structural changes or anomalies in the opposite posterior arch. Positive scans were found to be associated with a short clinical history, and indicated stress-related lesions. Our findings suggest that mechanical factors may play a role in the aetiology of spondylolysis in the upper lumbar spine similar to that which they play in the lower lumbar spine, and that local structural anomalies may contribute to abnormal loading of these vertebrae.

Adolescent↗