Abnormal anatomy of the lumbosacral region imaged by magnetic resonance in children with anorectal malformations

OBJECTIVE: To investigate the frequency of lumbosacral anomalies, the association with urogenital abnormalities, and the correlation with defaecation pattern by magnetic resonance imaging (MRI). METHODS: A prospective analysis was performed of routine MRI in patients with anorectal malformations. Between 1990 and 1994, MRI was performed in 43 such patients: 31 boys and 12 girls. Twenty four had a high anorectal malformation, 16 had a low anorectal malformation, and three had Currarino's triad. MRI was performed before reconstruction in 26, and postoperatively in 17. Urogenital anomalies were found in 21. RESULTS: Abnormalities of the spinal cord and spine were found with MRI in 20 patients (46.5%); caudal regression syndrome in 10, tethered cord in two, a combination of both in three, and other spinal anomalies in five. These anomalies were found in 30% of the patients with low anorectal malformations, and in 50% with high anorectal malformations. In patients with urogenital malformations, MRI more often showed spinal anomalies (13/21, 62%) than in patients without (7/22, 32%). In high anorectal malformations, defaecation was more often a problem in patients with spinal anomalies (12/15, 80%) than in patients without (2/8, 25%). CONCLUSIONS: Spinal anomalies in the lumbosacral region were found with MRI in 46.5% of patients with anorectal malformations. Since presence of these anomalies seems to be related to clinical outcome, MRI should be performed routinely in all such patients.     

Biofeedback training in chronic constipation

Twenty nine patients, aged 5-16 years, were studied to evaluate whether biofeedback training is effective in treating children with chronic constipation and encopresis; the clinical outcome at six weeks and 12 months was also evaluated. Patients received on average five biofeedback training sessions. The existence of external anal contraction or decreased rectal sensation in 16 (55%) and eight (27%) of the children, respectively was identified on manometry. After biofeedback training, 26 (90%) of the patients learned to relax the external anal sphincter; 18 (63%) normalised rectal sensation. The training resulted in a significant increase in defecation frequency and a significant decrease in encopresis. At six weeks, 16 (55%) of the patients were clinically symptom free. At follow up after 12 months the results were sustained. Only three patients showed a relapse within six months, of whom two were successfully treated with one extra training session. Biofeedback training might be a useful therapeutical approach in children with chronic constipation and encopresis.     

A Clustering Approach for Localizing Disease Susceptibility Loci

Latent class (LCA) and cluster analysis (CLA) were utilized to identify trait loci for the Genetic Analysis Workshop 12 simulated disease. These techniques create non‐overlapping subsets of concordant and discordant affected relative pairs based upon identity‐by‐descent (IBD) allele sharing at sequences of markers. Subgroups with a large proportion of affected pairs are used to identify markers in proximity to disease susceptibility loci. Both methods are model‐free and make use of information from affected and unaffected subjects. In analyses performed without knowledge of the true disease model, LCA and CLA identified regions containing five of the seven trait loci. © 2001 Wiley‐Liss, Inc.     

Long-term follow-up of benign lesions treated by SolcoDerm: a deleterious cosmetic effect

During the past five years, 15 patients, aged between 17 years to 35 years of age (mean 26 years), presented for cosmetic improvement of scars which were induced by treatment with SolcoDerm, either in the childhood or in their early teens. It was an homogenic group of patients who were treated at least 10 years before the present examination. Two representative cases are presented, and the literature is reviewed.     

Epidemiology of coronary heart disease risk factors in a free-living population.

A project for the detection and treatment of multiple risk factors (MRF) for coronary heart disease (CHD) has been initiated in Argentina. After complete medical and routine laboratory studies, 462 apparently normal subjects were found. The prevalence of RF was: hyperlipoproteinemia (HLP) 43.9%, hypertension (?160-95) 17.3%, smoking habits 35% (heavy smokers 7.9%), psychosocial stress 49.5%, overweight (weight/height > 1.10) 40.3%, sedentary habits 44.8%, family history of CHD 10.9%, diabetes 6.9%, and minor electrocardiographic abnormalities 6.6%. The distribution of the different types of HLP showed that type IV, with a frequency of 21.9%, was the most common. Types IIa and IIb had a prevalence of 11.5 and 10.6%, respectively. An extra pre-β band was detected in 25% of the population. Striking sex differences were found. Both type IV HLP prevalence and serum uric acid levels were significantly higher (P < 0.001) in males than in females. On the contrary, sedentary habits and psychosocial stress were significantly more prevalent in women than in men (P < 0.001). RF associations have been demonstrated between type IV HLP, overweight, hypertension, tobacco smoking, and diabetes. RF prevalence tended to increase with advancing age with the exception of smoking habits. In this apparently normal population, 36.9% of the men and 19.4% of the women had two or more major risk factors requiring treatment because of their high CHD risk.