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2.
Clin Genet ; 38(3): 228-32, 1990 Sep.
Article in English | MEDLINE | ID: mdl-2225531

ABSTRACT

A patient who presented with most features of lacrimo-auriculo-dento-digital (LADD) syndrome, an autosomal dominant trait, is described. There was no deafness, and anomalies of the external ear and the upper limbs were discrete. Renal anomalies, consisting of progressive caliectasis with stone formation, were revealed by macroscopic hematuria. There were also skeletal anomalies of both feet, a feature not previously described. Renal and distal limb anomalies are probably features of LADD syndrome.


Subject(s)
Chromosome Aberrations/genetics , Ear, External/abnormalities , Genes, Dominant , Kidney/abnormalities , Lacrimal Apparatus/abnormalities , Phenotype , Toes/abnormalities , Child , Chromosome Disorders , Hematuria/genetics , Humans , Kidney Calices/abnormalities , Male , Syndrome
3.
Gastrointest Endosc ; 34(2): 118-21, 1988.
Article in English | MEDLINE | ID: mdl-3366327

ABSTRACT

The effectiveness of esophagogastroduodenoscopy in the elderly was evaluated in a prospective study of 656 consecutive patients undergoing endoscopic examination of the upper gastrointestinal tract. Forty-six percent of the patients were younger than 65 years, and 13% were in the age group above 79 years. Initial complaints and final endoscopic diagnosis were related to sex and age. Statistically significant age-related differences in outcome diagnosis were found for gastritis in younger men (p less than 0.01) and negative examinations in younger women (p less than 0.01). Duodenitis (p less than 0.05) and duodenal ulcer disease (p less than 0.05) occurred more frequently in men, whereas hiatal hernia was more frequent in women (p less than 0.05). Older people presented with a more nonspecific pattern of complaints and symptoms, but, nevertheless, a good correlation was observed between complaints and endoscopic abnormalities in the elderly compared with a younger group. Since esophagogastroduodenoscopy was well tolerated and did not provoke a higher incidence of complications in the elderly, it was concluded that endoscopic evaluation of the upper gastrointestinal tract is a safe and effective examination for the investigation of upper abdominal complaints in a geriatric patient population.


Subject(s)
Duodenoscopy , Esophagoscopy , Gastrointestinal Diseases/diagnosis , Gastroscopy , Age Factors , Aged , Female , Humans , Male , Sex Factors
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