In a retrospective study 134 galactosaemic patients, born between 1955 and 1989 in the Federal Republic of Germany were traced and their long-term outcome evaluated. We investigated 83 galactosaemic patients (78 homozygotes, 5 compound heterozygotes) by clinical, psychometric and laboratory testing; 31 patients were evaluated by medical history, the remaining 20 patients had died due to sequelae of the underlying disease. In 48 out of 78 classical galactosaemia patients galactose-free therapy had been started before the 15th day, in 19 between days 15 and 56 and in 11 patients after the 56th day. Physical findings revealed that puberty was delayed in 1 out of 18 males and 6 out of 11 females. Neurological abnormalities included ataxia (n = 6), intention tremor (n = 11) and microcephaly (n = 10). Speech abnormalities were found in 43 out of 66 patients over 3 years of age and disturbance of visual perception and/or arithmetic deficits in 29. Intelligence declined with age, i.e., a DQ or IQ less than 85 was found in 4 out of 34 patients less than 6 years of age (12%), in 10 out of 18 between 7 and 12 years (56%) and in 20 out of 24 older than 12 years (83%). Metabolite patterns (RBC galactose-1-phosphate and UDP-galactose, plasma and urinary galactitol) did not correlate with DQ or IQ. Dietary compliance was good in almost all patients. Compound heterozygotes (n = 5) had normal mental and growth development and all laboratory parameters were in the normal range.(ABSTRACT TRUNCATED AT 250 WORDS)
Glycogen-storage diseases type I (GSD type I) are due to a deficiency in glucose-6-phosphatase, an enzymatic system present in the endoplasmic reticulum that plays a crucial role in blood glucose homeostasis. Unlike GSD type Ia, types Ib and Ic are not due to mutations in the phosphohydrolase gene and are clinically characterized by the presence of associated neutropenia and neutrophil dysfunction. Biochemical evidence indicates the presence of a defect in glucose-6-phosphate (GSD type Ib) or inorganic phosphate (Pi) (GSD type Ic) transport in the microsomes. We have recently cloned a cDNA encoding a putative glucose-6-phosphate translocase. We have now localized the corresponding gene on chromosome 11q23, the region where GSD types Ib and Ic have been mapped. Using SSCP analysis and sequencing, we have screened this gene, for mutations in genomic DNA, from patients from 22 different families who have GSD types Ib and Ic. Of 20 mutations found, 11 result in truncated proteins that are probably nonfunctional. Most other mutations result in substitutions of conserved or semiconserved residues. The two most common mutations (Gly339Cys and 1211-1212 delCT) together constitute approximately 40% of the disease alleles. The fact that the same mutations are found in GSD types Ib and Ic could indicate either that Pi and glucose-6-phosphate are transported in microsomes by the same transporter or that the biochemical assays used to differentiate Pi and glucose-6-phosphate transport defects are not reliable.
Previous studies suggest a discrepancy between the way dentists and patients measure oral health. The purpose of this study was to determine the relationship between a dentist's rating of an older dentate person's oral health and the patient self-rating using a single-item indicator, and to compare the clinical (i.e., number of teeth, caries, etc.) and subjective (problems with function, pain, etc.) factors that influence the rating. The study sample consisted of 776 older dentate people. Results showed that dentists judged subjects' oral health significantly more positively than the self-ratings. Approximately 30 percent of the elders rated their oral health identically to the dentist and half rated their oral health lower than the dentist. Bivariate comparisons showed that similar clinical and subjective variables were associated with the dentist and patient ratings. Multiple regression findings, however, highlighted differences in the factors that influenced the ratings. In addition, the proportion of variance accounted for by the clinical factors as opposed to the subjective factors was greater for the dentist rating (R2 = .28 of .33) than the subject self-rating (R2 = .18 of .43).
This article explores the relationship between sociopsychological factors, sexual activity, and sexual satisfaction in a sample of 1,216 elderly people (mean age = 77.3). Almost 30% had participated in sexual activity in the past month and 67% were satisfied with current level of sexual activity. Men are more likely to be sexually active, but less apt than women to be satisfied with their level of sexual activity. Regarding predictors of sexual activity, for men the strongest predictors were being younger and having more education. For women, the strongest predictor by far was being married. For both men and women the strongest predictors for satisfaction were being sexually active and having positive mental health scores. In summary, the main variables predicting sexual activity were being married, having more education, being younger, being male, and having good social networks. The main predictors for satisfaction with sexual activity were, in addition to being sexually active, being female, having good mental health, and better functional status.
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