Innovative information-sharing strategies.
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Global Health↗
Biomedical subjects
T O'Brien
Publications and source records attributed to T O'Brien.
Gene therapy and inherited dyslipidemia.
OBJECTIVE: To explore the current status and future potential of gene therapy for the inherited dyslipidemias. METHODS: A brief overview of the inherited dyslipidemias, a review of the currently available means of transferring genetic material in vivo, and a discussion of two examples of conditions in which gene therapy may be useful--familial hypercholesterolemia and reduced high-density lipoprotein cholesterol syndromes--are presented. RESULTS: Although substantial progress has been made in the management of inherited dyslipidemia, optimal treatment regimens are not available in all cases. Gene therapy has recently emerged as a potential solution to some of these problems. For gene therapy to be successful, several factors are necessary: an efficient means of gene transfer, long-term transgene expression, and lack of toxicity. Although the feasibility of this approach has been demonstrated, currently available vectors have a number of technical and safety limitations. CONCLUSION: Gene therapy for inherited dyslipidemias has many technical hurdles that must be overcome before it will have widespread clinical application.
Journal Article↗
Lipoprotein(a) and diabetes mellitus.
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Comment↗
Parenteral feeding in a patient with hypertriglyceridemia and increased liver enzyme levels.
OBJECTIVE: To discuss nutritional support in a patient with hypertriglyceridemia and liver dysfunction. METHODS: We describe the hospital course of a critically ill patient with hepatic dysfunction and hypertriglyceridemia who required nutritional support, and we provide an overview of lipid metabolism. RESULTS: A 27-year-old man with hepatic dysfunction and hypertriglyceridemia, who had undergone kidney transplantation 4 months previously, was admitted to the intensive-care unit with upper gastrointestinal bleeding. He was unable to tolerate enteral feeding, and central parenteral nutrition was initiated. Calories from dextrose and fat were limited because of the presence of increased liver enzyme levels and hypertriglyceridemia. A modified regimen of parenteral nutrition was developed for the patient. The short-term reduction of total calories to 75% of the predicted need is safe. CONCLUSION: Nutritional support in patients with liver dysfunction and hypertriglyceridemia is complicated and may require temporary underfeeding because of the need to limit fat and dextrose intake.
Journal Article↗
Abnormalities in the uninvolved lower limb in children with spastic hemiplegia: the effect of actual and functional leg-length discrepancy.
We assessed the pattern of gait in children with spastic hemiplegia and a leg-length discrepancy, particularly in relation to the uninvolved limb. The kinematics of the uninvolved limbs were compared with the pattern in normal children. The uninvolved limbs in children with hemiplegia and a significant leg-length discrepancy were compared with the uninvolved limb in those children who did not have a leg-length discrepancy. We found that the involved and uninvolved legs in patients with hemiplegia had characteristic patterns that were significantly different from normal. The kinematics of the involved leg were not affected by the presence of a leg-length discrepancy. The abnormal pattern in the uninvolved limb was more exaggerated in children with a leg-length discrepancy. The abnormal sagittal plane kinematics in the uninvolved lower limb in hemiplegic children appears to be related to the presence of an actual or functional leg-length discrepancy and have not previously been described. Our findings suggest that attention be paid to the functional and actual leg-length discrepancy that exists in these children, and early consideration be given to epiphysiodesis of the uninvolved limb.
Adolescent↗
Supreme Court decision In respect of a Ward of Court.
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Chronic Disease↗
Comparison of one-stage versus two-stage anterior/posterior spinal fusion for neuromuscular scoliosis.
Twenty-six patients with progressive neuromuscular scoliosis underwent anterior/posterior (AP) spinal fusion. Thirteen of the patients underwent a one-stage fusion, and 13 underwent a two-stage fusion. Although one-stage AP spinal fusion provides adequate correction of severe curves and allows a more expeditious recovery without increasing patient morbidity or mortality, current third-party payor reimbursement policies provide little incentive for 1-day operations. In addition, the procedure is mentally and physically demanding and the apparent benefits must be weighed against the potential harm that can result from surgeon fatigue or lack of appropriate planning.
Adolescent↗
Anatomic dissection of the tibialis posterior muscle and its correlation to medial tibial stress syndrome.
The authors attempt to redefine the anatomic origin of the tibialis posterior muscle, and correlate it with the location of medial tibial stress syndrome that occurs in the lower third of the tibia. Contrary to what is commonly described, the authors show on all ten dissected specimens, that the origin of the tibialis posterior does include a portion of the lower third of the tibia. The mean distance from tibialis posterior's origin to the medial malleolus was only 7.77 cm. In addition, to further explain lower leg pain, the authors investigated the crossing point of tibialis posterior and flexor digitorum longus; a mean distance for this to occur in the same ten specimens was 8.16 cm. proximal to the medial malleolus. These findings provide insight to anatomic reasons behind biomechanical factors responsible for medial tibial stress syndrome. This is also important to consider when performing surgery for a deep compartment syndrome.
Biomechanical Phenomena↗
Acetabular dysplasia presenting as developmental dislocation of the hip.
Eleven hips in nine children were identified with acetabular dysplasia, which presented as developmental dislocation of the hip. The clinical signs of dislocation--tight abductors and a limp, associated with a plain radiograph showing the femoral head protruding from the pelvis--were not evident among this group. Arthrography showed acetabular dysplasia but no dislocation. Accurate grading of hip dysplasia can help to avoid such misdiagnoses, which have presented a recurring problem in the management tof this condition.
Acetabulum↗
Toward salivary-urinary chronosensitivity testing: chronomes of OVX1, M-CSF and CA130.
Several rhythmic components were previously mapped for salivary and/or urinary CA125 and CA130. On the background of such reference standards, OVX1 and M-CSF were assayed on 242 urine samples and 160 saliva samples provided by a 71-year-old patient with a Müllerian/ovarian adenocarcinoma. Serum OVX1 correlates with serum CA125 (P = 0.002); when circulating CA125 concentrations decreased (from 122 to 14 U/ml), the urinary excretion rate of OVX1 decreased (P = 0.005), whereas the urinary excretion rate of CA125 increased (P < 0.001). Salivary OVX1 and urinary M-CSF show ultradian variations (with a frequency of one cycle in 14-17 hours), which could be utilized to guide treatment timing targeted first to optimize treatment efficacy and as a second consideration to minimize treatment toxicity.
Aged↗
Supreme Court decision in respect of a ward of court.
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Cause of Death↗
Unusual manifestations of type 1 autoimmune polyendocrinopathy.
We present a family with five members affected by Type 1 autoimmune polyendocrinopathy. All patients had chronic mucocutaneous candidiasis and dental abnormalities. Four patients had ocular abnormalities, four had hypoparathyroidism, and three had Addison's disease. The family was unusual in that all four affected females had premature ovarian failure. The ocular abnormalities included two patients with subcapsular lens opacities, one patient with asymptomatic corneal opacities, and one patient with severe bilateral iridocyclitis with cataract formation. One patient had pernicious anaemia and one had insulin dependent diabetes mellitus. All patients were negative on repeated occasions for organ specific and non-organ specific autoantibodies. Lymphocyte studies were performed in four patients. A deficiency of T suppressor cells was found in three and low normal levels were present in the fourth suggesting that the syndrome may be due to a defect in suppressor T cells.
Adolescent↗
The kinematic patterns of toe-walkers.
Children who toe-walk can pose a diagnostic problem. The differential diagnosis includes mild spastic diplegia and idiopathic toe-walking. Clinical differentiation between these two patient groups can be particularly difficult, and there are no objective diagnostic tests to assist the clinician. We assessed 50 children who toe-walk to define the kinematic patterns of lower-limb joint motion in the sagittal plane. There were 23 children with mild spastic diplegia. 22 idiopathic toe-walkers, and five normal children who were asked to toe-walk. We found characteristic patterns of knee and ankle motion that differentiated spastic diplegia from idiopathic toe-walking. Normal children asked to toe-walk had the same pattern as the idiopathic group. Gait analysis is a diagnostic tool that enables the clinician objectively to differentiate mild spastic diplegia from idiopathic toe-walking.
Adolescent↗