Two tests of association for a susceptibility locus for families of variable size: an example using two sampling strategies

A two-stage approach was used to analyze Problem 2 simulated data from Genetic Analysis Workshop 11. In the first stage, we tested for linkage with the Haseman-Elston test in SIBPAL. Markers that were significant in the first stage were followed up with two types of association tests. These association tests differ in the type of family information used: 1) parental transmissions to affected children or 2) differences in marker allele frequencies between affected and unaffected siblings. We also explored how the conclusions changed when different sampling strategies were used. Of particular interest was whether the entire data set should be used to test for both linkage and association or whether the data set should be halved to allow for replication of the initial association results.     

Comparison of fascial and vaginal wall slings in the management of intrinsic sphincter deficiency

Objectives

To compare safety and efficacy of fascial versus vaginal wall slings in the management of women with intrinsic sphincter deficiency (ISD).

Methods

The hospital and office records of 79 consecutive women with ISD were retrospectively analyzed from January 1991 to September 1995. There were 43 fascial slings (group A) and 36 vaginal wall slings (group B). Parameter of evaluation included efficacy based on postoperative presence of stress or urge incontinence and number of pads used, complications, and miscellaneous factors, including length of catheterization time, length of hospitalization, quantity of analgesics used, and loss of work days.

Results

Baseline clinical and urodynamic data were the same for both groups. Pad use decreased from 6.9 to 0.6 for group A and from 5.7 to 0.3 for group B. Persistent stress and urge incontinence was present in 5% and 16% of group A patients and in 3% and 11 % of group B patients, respectively. Group A (89%) and group B (94%) patients were either very satisfied or satisfied with their surgical outcome. The operative time, hospital days, and days lost from work for group B patients (42.3 ± 13.4 minutes, 1.4 ± 0.9 days, 18.4 ±3.2 days, respectively) were significantly lower than for group A patients (84.2 ± 17.8 minutes, 3.7 ± 1.9 days, 28.4 ±7.8 days, respectively).

Conclusions

Both fascial and vaginal wall slings are effective in treating women with ISD. However, the use of vaginal wall slings resulted in significantly shorter hospital stay, decreased catheterization time, decreased use of analgesics, and decreased loss of days of work compared with fascial slings. Therefore, the vaginal wall sling should be the preferred surgical method of treating intrinsic sphincter deficiency.     

Occult fracture patterns of the knee associated with anterior cruciate ligament tears: assessment with MR imaging.

One hundred consecutive magnetic resonance (MR) images of the knee in patients with acute complete anterior cruciate ligament (ACL) tears were reviewed to evaluate the prevalence and patterns of associated occult fractures. Eighty-nine occult fractures were identified in 56 knees. All occult fractures were in the posterior aspect of the lateral tibial plateau. Of these, occult fractures were isolated in 24 cases (43%) and were in combination with fractures in the middle aspect of the lateral femoral condyle in 26 (46%), with fractures in the posterior aspect of the medial tibial plateau in four (7%), and with fractures involving all three areas in one (2%). Disruption of the ACL under valgus stress leads to anterior translation of the tibia and relative external rotation of the femur. This allows impaction of the posterior portion of the lateral tibial plateau against the middle of the lateral femoral condyle and accounts for the unique pattern of occult fractures associated with ACL tears. An occult fracture of the posterior lateral tibial plateau with or without an associated fracture in the lateral femoral condyle ("kissing contusion") is a relatively frequent finding in acute ACL tears and, when present, is highly suggestive of such an associated tear.     

Remission of Tardive Dystonia with ECT

A 30-year-old patient with tardive dystonia, who had failed to respond to cessation of neuroleptics, placebo, diazepam, biperiden, propranolol, and clonidine, had an impressive response to courses of electroconvulsive therapy (ECT) on three successive trials.     

Clinical assessment and multispecialty management of Apert syndrome

This article has provided an overview of the medical, surgical, and developmental issues that should be considered in all individuals with the Apert syndrome. This is a multiple-malformation syndrome and, as such, health care must involve attention to multiple systems. In addition to a planned strategy for surgical management, family history must be considered and consultations requested with a geneticist, ophthalmologist, child development specialist, and an otorhinolaryngologist in addition to the "team" members described. Potential complications from airway obstruction include obstructive breathing patterns, apnea, and cor pulmonale; central nervous system abnormalities may not be apparent until neurologic sequelae are manifested. The single most important concept of team care rests not with close proximity of multiple specialists but with the ability of the team to communicate and organize effectively a plan of care for families.     

Arthritis and nephritis in patients with systemic lupus erythematosus

Previous publications suggest that in patients with systemic lupus erythematosus (SLE), rheumatoid factor (RF) may be "protective" against nephritis. In our study of 662 patients with SLE, we found that persistent, rheumatoid-like arthritis showed a much stronger inverse correlation with nephritis than RF. Of 186 such patients, 59 developed clinically evident nephritis (32%) compared to 263 of the other 476 patients (55%) (p less than 10(-7). RF showed only a weak inverse relationship to nephritis (p = 0.064). We conclude that the presence of persistent rheumatoid-like arthritis in patients with SLE identifies a clinical subset of patients who are less likely to develop nephritis than those with no arthralgia, no objective arthritis or only episodic arthritis. We hypothesize that such patients represent a genetically determined subset among patients with SLE and that perhaps they are more likely to bear the HLA-DR4 allele.