Localization of a gene for partial epilepsy to chromosome 10q.

There is strong evidence for a genetic contribution to epilepsy, but it is commonly assumed that this genetic contribution is limited to 'generalized' epilepsies, and that most forms of 'partial' epilepsy are nongenetic. In a linkage analysis of a single family containing 11 affected individuals, we obtained strong evidence for localization of a gene for partial epilepsy. This susceptibility gene maps to chromosome 10q, with a maximum two-point lod score for D10S192 of 3.99 at theta = 0.0. All affected individuals share a single haplotype for seven tightly linked contiguous markers; the maximum lod score for this haplotype is 4.83 at theta = 0.0. Key recombinants place the susceptibility locus within a 10 centimorgan interval.

Reduced fecundity in male ALS gene-carriers.

In order to study genetic aspects in multicase families, 89 amyotrophic lateral sclerosis (ALS) and 214 Parkinson disease (PD) kindreds were analyzed in parallel studies. Obligate gene-carriers were identified as described previously [Chatkupt et al., 1992: Am J Med Genet 44:508-512]. There were fewer children per gene-carrier male (2.42) than per gene-carrier female (3.25, Student's t-test, P < .0003) for ALS but not for other diseases. The data taken together suggest that fecundity in ALS gene-carriers was reduced in males, possibly as a result of reduced fertility. Since childbearing is usually accomplished well before the onset of neurological symptoms in ALS, and since reduced fecundity was found in male ALS gene-carriers, these findings raise the possibility that an ALS gene might have a pleiotrophic effect on fertility in males occurring decades before the onset of neurological symptoms. Evidence is presented linking reactive oxygen species to reduced fertility in males. Alternatively, decreased or nonfunctional androgen receptors could play a role.

[Rotator cuff rupture: definition, establishing the diagnosis and therapy]. / Die Rotatorenmanschettenruptur: Definition, Diagnosestellung und Therapie.

The rotator cuff tear is an extremely common disorder in the general as well in the orthopaedic praxis. The etiology is multifactorial with intrinsic and extrinsic factors. Clinical assessment of the patient is important for an exact diagnosis and an individual treatment plan. The treatment options of full thickness tears include conservative as well as operative procedures. Over the last years, modified techniques have improved the results of rotator cuff reconstruction.

[Epidemiology of trochanteric femoral fractures over 2 decades (1972-1988)]. / Epidemiologie trochantärer Femurfrakturen über 2 Jahrzehnte (1972-1989).

Owing to gradual aging of the population, the incidence of osteoporosis-related fractures of the proximal femur has increased. Trochanteric fractures are encountered in more than 50% of hip fractures. In this study, a comparative epidemiological analysis of patients with trochanteric fractures treated in the orthopedic department of the university hospital of Berne was performed. The time period from 1972 to 1978 (group 1, n = 205), was compared with the period from 1981 to 1989 (group 2, n = 444). Group 2 experienced a significant age-related increase of the number of patients with trochanteric fractures in the age group 30-49 years (p < 0.0001) and a significant increase of the number of patients in the age group over 80 years (p < 0.0001). In group 2, the female/male ratio was 0.24/1 for patients aged 30-49 years, 0.88/1 in the age group 50-59 years, 0.92/1 and 2.47/1 for patients in the age groups 60-69 and 70-79 years, respectively, and 3.59/1 in individuals over 80 years of age. The increased incidence in older women with trochanteric fractures is related to a higher grade of osteoporosis and agrees with the findings in the literature. The marked increase in the incidence of fractures in young males could be due to a higher risk of high-energy trauma sustained in traffic accidents and sports. Another explanation is the increase of risk factors for early osteoporosis related to low-energy traumas over the past two decades. Overall, there was a tendency towards more complicated fracture types (AO classification) in group 2 than in group 1.

[Rotational instability of trochanteric femoral fractures secured with the dynamic hip screw. A radiologic analysis]. / Rotationsinstabilität trochantärer Femurfrakturen fixiert mit der DHS. Eine radiologische Analyse.

In this study, a retrospective analysis of patients with trochanteric fractures fixed with a dynamic hip screw was performed (n = 238). Analysis of the complete X-rays (n = 115) revealed rotation of the head-neck fragment in 12% of the cases (n = 14). Patients with complex fracture types were more often affected by this complication (p < 0.05). The distance of lateral impaction was significantly higher in the group with rotation of the proximal fragment compared to patients without rotation (p < 0.001). The rate of cutting-out (p < 0.01), the rate of delayed union (p < 0.01) and the rate of varus angulation (p < 0.01) was significantly higher. Reoperation was necessary in 14% of the patients compared to 2% in the group without rotation. We conclude that rotational instability of a gliding implant system is a severe complication in the treatment of trochanteric fractures.

Clinical impact of MR arthrography of the shoulder.

PURPOSE: To evaluate the effect of MR arthrography of the shoulder on diagnostic thinking and therapeutic decisions by orthopedic shoulder surgeons. MATERIAL AND METHODS: Orthopedic surgeons completed a questionnaire before and after MR arthrography for 73 consecutive patients. The main indications were suspected rotator cuff abnormalities. The clinical diagnosis, the degree of confidence in this diagnosis, and the therapeutic decision were noted before and after MR imaging. Surgical reports were available for 34 patients. RESULTS: Thirty-four percent of the pre-MR imaging diagnoses were withdrawn after MR imaging, and new diagnoses were made after MR imaging in 13% of the cases. Confidence in the diagnosis increased significantly after MR imaging for supraspinatus and infraspinatus lesions (p<0.05). Changes of therapeutic decision after MR imaging were noted in 36 of the 73 patients (49%). In 23 patients, more invasive therapeutic procedures were initiated after MR imaging, and a more conservative treatment was implemented for 13 patients. Agreement of MR diagnoses with surgery was 94% for supraspinatus tears, 87% for infraspinatus tears, 77% for subscapularis tears, and 81% for biceps tendon lesions. Agreement of clinical diagnoses with surgery was 56%, 83%, 50%, and 64%, respectively. CONCLUSION: MR arthrography of the shoulder has a major effect on diagnostic thinking and therapeutic decisions by orthopedic shoulder surgeons.

[Femoral fractures following total hip prosthesis]. / Femurfraktur nach Hüfttotalprothese.

Fractures of the ipsilateral femur after hip arthroplasty are a serious problem. In most cases, minimal trauma is responsible for the fracture. Predisposing factors, such as severe osteoporosis, loosening of the stem of the prosthesis, or cortex perforations, are often found. Such fractures occurred between 1979 and 1989 in 30 patients, i.e. 2.3% of our patients who had received primary prosthesis and 2.9% of those who had undergone revision. The patients' ages at the time of fracture ranged from 41 to 88 years (mean 63 years), 33% of the patients in these group being female. The time lapse from implantation of the prosthesis to the fracture varied between 1 month and 11 years (mean 4.4 years). The fracture was at the level of the proximal trochanteric region in 3% of these patients, between the trochanteric line and the tip of the prosthesis in 20%, and below the tip of the prosthesis in 70%. Operative treatment was performed in 29 patients. Fractures were fixed with a compression plate in 19 (63%), and in 3 the plate fixation was reinforced with intramedullary cement. In 2 osteoporotic patients with supracondylar fractures the osteosynthesis ruptured and a successful revision operation with cement was performed. In 3 others internal fixation was combined with replacement of the prosthesis; 3 patients received a Wagner revision prosthesis and 1 a long-stem Protek tumor prosthesis.(ABSTRACT TRUNCATED AT 250 WORDS)

Duration of vaginal bleeding and trisomy at prenatal diagnosis.

In the case-control study of 118 women with autosomal trisomy identified at prenatal diagnosis and their 442 karyotypically normal matched controls, we found that there was no overall association between risk of trisomy and the presence of vaginal bleeding during pregnancy. However, a lengthy duration of bleeding appears to predict increased risk of trisomy.

Long-term results of transhiatal esophagectomy for esophageal carcinoma. A multivariate analysis of prognostic factors.

BACKGROUND: Perioperative mortality and survival after esophagectomy have improved over the past 10 years. Although stage is the most powerful predictor of long-term survival, it remains unclear whether other factors influence prognosis. METHODS: Between 1981-1991, 100 patients with esophageal carcinoma were uniformly treated by transhiatal esophagectomy without adjuvant therapy. Results and prognostic factors of long-term survival were analyzed by univariate and multivariate analyses (log-rank test and Cox regression model). RESULTS: Forty-eight patients had severe associated medical conditions, and 26 patients were older than 69 years of age. Mortality was 3%, and morbidity was 68%. With a median follow-up of 52 months, median survival was 18 months. The overall 5-year survival was 23%, but it was 63% for early stages (pT1 + pT2). In the multivariate analysis, the risk of dying was increased by 4.9 (risk ratio) for patients with carcinomas invading beyond the muscularis propria (pT3 + pT4), compared to lower stages (pT1 + pT2) (P < 0.0001). To a lesser extent, longterm survival was also adversely affected by transfusions (packed erythrocytes) after controlling for stage (risk ratio 1.7; P = 0.047). Age (> 69 years), preoperative weight loss, tumor location, histology (adenocarcinoma versus squamous cell carcinoma), fresh frozen plasma, and splenectomy did not influence survival. CONCLUSION: In this study, transhiatal esophagectomy provided palliation for esophageal cancer with a low-perioperative mortality. Prolonged survival or cure was obtained for the majority of patients operated on in the early stages. Blood transfusions had a slight adverse effect on long-term survival.

Lack of association between spermicide use and trisomy.

It has been suggested that the maternal use of spermicidal contraceptives increases the frequency of certain congenital anomalies, including trisomy, but this issue is in dispute. This controversy led us to examine whether the use of spermicidal contraceptives is associated with an increased risk of fetal trisomy. A questionnaire concerning contraceptive use was completed by 13,729 women who were undergoing prenatal fetal chromosome studies but were as yet unaware of the results. Most women were at increased risk of having a trisomic fetus because of their advanced age. Of 154 fetuses with trisomy, 98 had trisomy 21. For each woman (case) with an affected fetus, four controls were selected from among women with chromosomally normal fetuses, matched for maternal age and medical center. Cases and controls were compared by matched-sample maximum-likelihood logistic regression, to examine the association between fetal trisomy and four measures of spermicide use: periconceptional use, timing of last use, duration of last use, and total lifetime use. No evidence was found for an association, either when all types of trisomy were combined or when trisomy 21 alone was considered. All point estimates of odds ratios relating spermicidal exposure to trisomy were approximately 1, and an effect greater than a twofold increase was excluded with 95 percent confidence in the combined-trisomy group for all measures of spermicide use.

PIP: It has been suggested that maternal use of spermicidal contraceptives increases the frequency of certain congenital abnormalities, including trisomy, but this issue is in dispute. The controversy led to this examination of whether the use of spermicidal contraceptives is associated with an increased risk of fetal trisomy. A questionnaire concerning contraceptive use was completed by 13,729 women undergoing prenatal fetal chromosome studies but were as yet unaware of the trisomic fetus because of their advanced age. Of 154 fetuses with trisomy, 98 had trisomy 21. For each woman (case) with an affected fetus, 4 controls were selected from among women with chromosomally normal fetuses, matched for maternal age and medical center. Cases and controls were compared by matched-sample maximum-likelihood logistic regression, to examine the association between fetal trisomy and 4 measures of spermicide use: preconceptional use, timing of last use, duration of last use, and total lifetime use. No evidence was found for an association, either when all types of trisomy were combined or when trisomy 21 alone was considered. All point estimates of odds ratios relating spermicidal exposure to trisomy were approximately 1, and an effect a 2-fold increase was excluded with 95% confidence in the combined-trisomy group for all measures of spermicidal use.

The prebiotic effects of biscuits containing partially hydrolysed guar gum and fructo-oligosaccharides--a human volunteer study.

Prebiotics are non-digestible food ingredients that target selected groups of the human colonic microflora, thus having the ability to alter the composition towards a more 'beneficial' community, i.e. selectively increasing populations of bifidobacteria and/or lactobacilli. In the present study the prebiotic potential of partially hydrolysed guar gum (PHGG) and fructo-oligosaccharides (FOS) in a biscuit was assessed in human volunteers. Fluorescent in situ hybridization using oligonucleotide probes targeting Bacteroides spp., Bifidobacterium spp., Clostridium spp. and Lactobacillus-Enterococcus spp. were used for the bacteriology and total bacteria were enumerated using the fluorescent stain 4',6-diamidino-2-phenylindole. Thirty-one volunteers consumed daily either three experimental biscuits (providing a total (g/d) of 6.6 FOS and 3.4 PHGG) or three placebo biscuits for two 21-d crossover periods. Bifidobacteria significantly increased in number on ingestion of the experimental biscuits compared with pre-treatment and placebo population levels. Bifidobacterial numbers returned to pretreatment levels within 7 d of the cessation of intake of experimental biscuits. A correlation was observed between the initial faecal bifidobacterial numbers and the magnitude of bifidogenesis, with volunteers who possessed low initial population levels of bifidobacteria experiencing the greatest increase in bifidogenesis. No changes were observed in the other bacterial groups monitored during the trial. Thus, the prebiotic nature of FOS and PHGG was maintained in a final food product as evidenced from the selective increase in bifidobacterial numbers.