Pseudoathetosis: report of three patients.

We report on 3 patients with pseudoathetosis, which are involuntary, slow, writhing movements due to loss of proprioception.     

Congenital diaphragmatic defects that present late.

Twenty two patients (age range: 1 month to 11 years) were treated for congenital diaphragmatic defects (excluding hiatus hernia) in the six year period 1983-8. Presenting features were failure to thrive (n = 7), abdominal pain and vomiting (n = 4), chronic respiratory symptoms (n = 3), and inability to wean from ventilatory support (n = 3). The defect was an incidental finding in five patients. Operative repair was performed with no mortality or serious postoperative morbidity. Dramatic improvement occurred in 15 of the 17 symptomatic patients. Awareness of the differential diagnosis should avoid delay in diagnosis or inappropriate treatment. Surgical correction is strongly recommended in all cases.     

The development of a comprehensive, institution-based patient risk evaluation program: II. Validity and reliability of questionnaire data

The accuracy of historical information derived from self-administered questionnaires must be confirmed. We report the results of studies conducted to assess the reliability and validity of data collected from a comprehensive cancer risk factor questionnaire developed at The University of Texas M.D. Anderson Cancer Center. A comparison of the basic demographic data of a randomly selected sample of 80 respondents and 70 nonrespondents revealed no fundamental ethnic or socioeconomic differences. We verified self-reported past illnesses, surgical procedures, and cancers by reviewing 72 patient charts, using stringent diagnostic criteria for verification. We noted substantial agreement between self-reported and documented illnesses and operations. With the exception of nine patients who misclassified metastatic disease, the verification of primary cancers was excellent. We determined reliability by interviewing 50 of these patients by telephone. Questions with a dichotomous outcome (e.g., smoking status) were reliably answered; however, those requiring quantification (e.g., amount of alcohol consumed) were less accurately reported on interview. While we recognize the limitations of self-administered questionnaires, we believe this program will develop into a comprehensive, standardized, easily accessible patient risk factor data base.     

Gastric transposition for esophageal substitution in children.

Fifty-four gastric transposition procedures have been carried out for esophageal substitution in the 10-year period 1981 through 1990. The indication for esophageal replacement was esophageal atresia in 36 (19 long-gap atresia with distal fistula and 17 isolated atresia), caustic stricture in 9, intractable peptic reflux stricture in 3, 2 achalasia and 1 each of prolonged foreign body impaction, diffuse leiomyoma, congenital esophageal stenosis, and congenital short esophagus. Eight patients had previously undergone an unsuccessful colonic replacement procedure. The age at gastric transposition ranged from 4 months to 16 years. The procedure of choice was posterior mediastinal transposition without thoracotomy in 37 cases. The esophagogastric anastomosis leaked in 7 patients (12.9%), all of which closed spontaneously, whereas 5 patients developed an anastomotic stricture that responded to bouginage. There were 5 deaths (9.2%). Major complications developed postoperatively in 12 patients: 4 required additional gastric drainage procedures, 2 required temporary tracheostomy, 2 developed adhesion obstruction, and 1 each developed paraesophageal hernia, leakage of the jejunal feeding tube, tracheomalacia, and major hemorrhage following resection of a colonic graft. Major but temporary feeding problems were encountered in 12 children. Medium-term results were assessed as excellent in 67%, good in 20%, fair in 6%, and poor in 6% of the 34 patients surviving longer than 1 year postoperatively (ie, excluding 7 patients lost to follow-up).     

A leg ulcer as manifestation of metastatic squamous cell vaginal carcinoma

Cutaneous metastasis of vaginal carcinoma is extremely rare. So far, the total number of reported skin metastasis of vaginal carcinoma is only one. We present another case with an unusual manifestation of vagina carcinoma metastasis: skin metastasis presenting as a leg ulcer on the lower leg.     

Localization of a gene for otosclerosis to chromosome 15q25-q26

Among white adults otosclerosis is the single most common cause of hearing impairment. Although the genetics of this disease are controversial, the majority of studies indicate autosomal dominant inheritance with reduced penetrance. We studied a large multi- generational family in which otosclerosis has been inherited in an autosomal dominant pattern. Five of16 affected persons have surgically confirmed otosclerosis; the remaining nine have a conductive hearing loss but have not undergone corrective surgery. To locate the disease- causing gene we completed genetic linkage analysis using short tandem repeat polymorphisms (STRPs) distributed over the entire genome. Multipoint linkage analysis showed that only one genomic region, on chromosome 15q, generated a lod score >2.0. Additional STRPs were typed in this area, resulting in a lod score of 3.4. STRPs FES (centromeric) and D15S657 (telomeric) flank the 14. 5 cM region that contains an otosclerosis gene.