Genes in idiopathic calcium oxalate stone disease

An examination of the urinary excretions of 101 normal subjects indicated that the major genetic influence on calcium excretion is a codominant pair of alleles giving rise to three phenotypes, low, intermediate and high (hypercalciuric) excretors. This inference was based on variance, Hardy-Weinberg and segregation analyses. Similar independent gene pairs also appear to influence oxalate and citrate excretion, A 3-locus Hardy-einberg table using estimates of gene frequencies derived from the study of normals suggests that only 3 or 4 leading genes are involved in oxalate stone disease. Strong candidate genes identified from molecular and physiological studies cannot be proposed at present, but it is assumed that they influence the transport of these ions in either the intestine, kidney or both organs. The identification of the genes involved should be facilitated by the reduction of dietary influences on urinary excretions through the use of formula diets.     

In situ forces in the anterior cruciate ligament and its bundles in response to anterior tibial loads

The anterior cruciate ligament has a complex fiber anatomy and is not considered to be a uniform structure. Current anterior cruciate ligament reconstructions succeed in stabilizing the knee, but they neither fully restore normal knee kinematics nor reproduce normal ligament, function. To improve the outcome of the reconstruction, it may be necessary to reproduce the complex function of the intact anterior cruciate ligament in the replacement graft. We examined the in situ forces in nine human anterior cruciate ligaments as well as the force distribution between the anteromedial and posterolateral bundles of the ligament in response to applied anterioi tibial loads ranging from 22 to 110 N at knee flexion angles of 0–90°. The analysis was performed using a robotic manipulator in conjunction with a universal force-moment sensor. The in situ forces were determined with no device attached to the ligament, while the knee was permitted to move freely in response to the applied loads. We found that the in situ forces in the anterior cruciate ligament ranged from 12.8 ± 7.3 N under 22 N of anterior tibial load applied at 90° of knee flexion to 110.6 ± 14.8 N under 110 N of applied load at 15° of flexion. The magnitude of the in situ force in the posterolateral bundle was larger than that in the anteromedial bundle at knee flexion angles between 0 and 45°, reaching a maximum of 75.2 ± 18.3 N at 15° of knee flexion under an anterior tibial load of 110 N. The magnitude of the in situ force in the posterolateral bundle was significantly affected by knee flexion angle and anterior tibial load in a fashion remarkably similar to that seen in the anterior cruciate ligament. The magnitude of the in situ force in the anteromedial bundle, in contrast, remained relatively constant, not changing with flexion angle. Significant differences in the direction of the in situ force between the anteromedial bundle and the posterolateral bundle were found only at flexion angles of 0 and 60° and only under applied anterior tibial loads greater than 66 N. We have demonstrated the nonuniformity of the anterior cruciate ligament under unconstrained anterior tibial loads. Our data further suggest that in order for the anterior cruciate ligament replacement graft to reproduce the in situ forces of the normal anterior cruciate ligament, reconstruction techniques should take into account the role of the posterolateral bundle in addition to that of the anteromedial bundle.     

Prognosticators of outcome after major head injury in the elderly.

In 195 elderly head-injured patients, Glasgow Coma Scale (GCS) scores (admission and 72 hours) and intracranial pressure (ICP) 0-12 days after injury were compared to 6 month Glasgow Outcome Scores. All patients remaining comatose at least 72 hours after injury died within 6 months. The mortality rate among patients with ICP greater than 20 mm Hg was higher both at 72 hours and at 6 months after injury. The 6 month mortality rate was 75% overall and 90% among patients with elevated ICP. This increased mortality in elderly patients with initially elevated ICP indicates that nurses and other health professionals should consider ICP as well as level of consciousness when counseling patients and families regarding the likely outcome after major head injuries.     

Alterations in erythrocyte Na+,K+-cotransport in normal and hypertensive human pregnancy

Many physiological variables known or thought to affect erythrocyte Na+,K+-cotransport are altered in pregnancy. The interrelationships of Na+,K+-cotransport and pregnancy were therefore examined. Values were elevated by more than 30% in both second and third trimesters with a return towards non-pregnant levels in the postpartum period. Although pregnancy was also associated with elevated plasma cholesterol, renin activity and aldosterone, there was no significant relationship within the pregnant group between Na+,K+-cotransport and any of these factors. No change could be demonstrated in Na+,K+-cotransport values after 7 days of either high (greater than 250 mmol/day) or low (less than 50 mmol/day) sodium intake and values for those who developed pregnancy-associated hypertension (PAH, pre-eclampsia) were not significantly different from those in continuously normotensive women in either the second or the third trimesters of pregnancy.     

Gentamicin-induced increases in cytosolic calcium in pig kidney cells (LLC-PK1)

LLC-PK1 cells, an established epithelial cell line derived from pig kidney, were tested as a model system for assessing the role of calcium in gentamicin-induced nephrotoxicity. Cell viability was evaluated by a vital dye exclusion procedure, and intracellular free calcium [Ca2+]i was measured employing Fura-2 fluorescence. Exposing cell suspensions (10(6)/ml) to concentrations of the drug, which had no apparent effect on viability, produced a rapid and prolonged increase in intracellular [Ca2+]. The perturbation of calcium homeostasis could be blocked by the addition of mepiperphenidol, an inhibitor of the organic cation transport system. We propose that LLC-PK1 cells are an appropriate model to study drug-induced nephrotoxicity. Gentamicin disrupts calcium homeostasis and causes plasma membrane alterations. Since mepiperphenidol blocked the gentamicin-induced Ca2+ increases, the data suggest that aminoglycosides enter the cell via the organic cation transporter.     

Spinal MR findings in neurofibromatosis types 1 and 2.

PURPOSE: To evaluate the frequency and nature of spinal pathology, the frequency of clinically silent lesions, and the potential benefit of screening spinal MR in neurofibromatosis patients. PATIENTS AND METHODS: 28 neurofibromatosis type-1 (NF-1) patients and nine neurofibromatosis type-2 (NF-2) patients were studied with postcontrast spinal MR imaging. RESULTS: NF-1: One patient had a biopsy-proven low-grade glioma; five patients, intradural, extramedullary masses (N = 23); one patient, extradural masses (N = 2) (neurofibromas); 16 patients had bony abnormalities; and three patients thecal sac abnormalities. NF-2: Five patients demonstrated intramedullary masses (five/eight ependymomas); nine patients, intradural, extramedullary masses (meningiomas, schwannomas); and four patients, bony abnormalities. Eight/10 NF-1 and four/nine NF-2 patients had asymptomatic masses. CONCLUSION: Intradural disease is common, often asymptomatic, and often presents at a young age in NF-1 and NF-2 patients. Because of the propensity to develop significant asymptomatic as well as symptomatic intradural disease, screening of the entire spine with MR is recommended in both NF-1 and NF-2 patients.     

Fat embolism after liposuction

We present a case of adult respiratory distress syndrome (ARDS) after extensive liposuction. On the basis of fever, tachypnea, hypoxia, and ARDS occurring within 48 hours after surgery without evidence of cardiogenic pulmonary edema or sepsis, the etiology is believed to be fat embolism. Although liposuction is generally an effective and safe procedure, awareness of this life-threatening complication is important in order to institute prompt and appropriate treatment. Fat embolism must be differentiated from thromboembolism, as the treatment is different, and heparin is not indicated. It is recommended that training standards and guidelines be devised in order to reduce morbidity and mortality associated with this procedure.