ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1993.tb00319.x

出版商:Blackwell Publishing Ltd    

年代:1993

数据来源: WILEY

摘要:

ABSTRACT.Three enzymes intervening inde novopurine synthesis, as well as cystathionine B‐synthetase, have been mapped to chromosome 21. In order to gain a better understanding of purine synthesis anomalies in Down's syndrome, the present authors studied the variations in mitotic index of lymphocyte cultures to which various inhibitors or metabolites of purine synthesis had been added. In spite of common gene dosage effects, unexpected and highly significant differences were noted between Down's syndrome patients without complications and those presenting with additional psychotic features. In Down's syndrome patients without complications, a highly significant decrease in mitotic index was noted in the presence of exogenous inosine. A significant decrease in the presence of adenosine and guanosine was also noted. These findings are in keeping with the expected metabolic repercussions of genes mapped to chromosome 21. In Down's syndrome patients with psychotic complications, thein vitroreactions were quite different. A paradoxal increase in mitotic index was noted in the presence of inosine and of adenosine, but the response to guanosine did not differ from that observed in normal controls. These findings were unexpected and seem to indicate that, in spite of the gene dosage effect, psychotic Down's syndrome patients are unable to compensate abnormal purine synthesis and resulting imbalances. Furthermore, a marked difference in purine metabolic reactions was noted between Down's syndrome patients receiving supplemental folic/folinic acid and those on no therapy. This suggests that some modulation of the gene dosage effect may be possibl

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1993.tb00320.x

出版商:Blackwell Publishing Ltd    

年代:1993

数据来源: WILEY

摘要:

ABSTRACTBasic fibroblast growth factor (bFGF) has shown a neuroirophic effect in the neurons of several CNS areas. In vivo, it contributes to restore neurochcmical and morphological deficits in different rodent models of brain damage, including rats with brain damage induced by hypoxia/ischemia when FGF was intramuscularly (i.m.) administered. Toxicological and immunological studies performed in rats, mice and volunteers showed no evidence of side‐effects. Bovine FGF was i.m. administered in children with mental retardation caused by perinatal hypoxia, aged 1–15 years, at dosages of 0–4 or 0–28 μ.g kg−1, once or twice a month, over 7–12 months. Group A [n= 12; 6 treated (T), 6 controls (Ct)], group B (n= 16; 8 T, 8 Ct) and group C (n = 67; 45 T, 22 Ct) were evaluated with the P. A. R. scale, the WISC‐RM and the Gesell scale, respectively. Development increased significantly in treated children from groups A (P<0.02) and C (P<0.001), and IQrose by more than 10 points (P<0.001) in gr

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1993.tb00321.x

出版商:Blackwell Publishing Ltd    

年代:1993

数据来源: WILEY

摘要:

ABSTRACT.The purpose of this study was to examine the validity of the American College of Sports Medicine's (ACSM) prediction equations for calculating peak oxygen consumption (VO2max) in young adults with mental retardation. A total of 32 subjects with mental retardation participated in this study: 15 young adults with Down's syndrome (DS) and 17 non‐DS young adults (NDS). Subjects were matched for age, gender and intelligence quotient (IQ). Subjects were given a standard treadmill‐graded exercise test to determine peak heart rate (HR) and peak oxygen consumption (VO2max). Subjects were connected to a metabolic cart during the test. Peak VO2was predicted using ACSM's prediction equations where predicted VO2maxis: men, 57.8–0.445 (age); and women, 42.3–0.356 (age). Statistical significance between groups was determined using a two‐tail t‐test, with alpha seta prioriat 0.05. The DS group had a significantly (P=0.0003) lower peak HR(DS 155.90 ± 12.12 vs NDS 175.38±9.87) and per cent HR achieved (P=0.0007) (DS 80.26±6.76 vs NDS 89.39±4.46) as compared to the NDS group. Differences were also found between groups with respect to peak oxygen consumption. The DS had a significahtly (P=0.006) lower peak oxygen uptake (ml kg(−1) min(−1) as compared to the NDS group (23–68±4.01 vs 31.00±7.11, respectively). Significant differences (P=0.007) were accordingly observed with respect to per cent predicted oxygen uptake achieved (DS 55.22± 10.61 vs NDS 73.27±19.15). A nearly two‐fold difference (P=0.01) was observed with respect to the functional aerobic impairment between the DS (44.79±10.61)and NDS (28.29±18.63) groups, further illustrating the impaired peak cardiovascular capacities of both groups. The results of this study indicated that use of the ACSM gender and activity specific prediction equations in young adults with mental retardation (DS and NDS), peak VO2is significantly over‐predicted (83.9 and 39.2%, respectively). Therefore, peak oxygen consumption and derived exercise prescriptions must be based on actual measurements, rather than via ACSM prediction equations. Otherwise, training intensities may be over‐predicted

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1993.tb00322.x

出版商:Blackwell Publishing Ltd    

年代:1993

数据来源: WILEY

摘要:

ABSTRACTThe polygraphically recorded sleep‐wake continuum of 21 Prader‐Willi syndrome (PWS) patients was compared with that of 19 normal people. In the Prader‐Willi group, excessive daytime sleepiness (EDS) is found in 95% of subjects, and rapid eye movement (REM) sleep disorders occur in 52%. These two features were significantly different from the normal group of subjects. No indications were found for the presence of the apnoea syndrome. The REM sleep disorders are: sleep onset rapid eye movements (SOREM), REM sleep in naps, many arousals during REM sleep, and a significant decrease in total REM sleep. These disturbances in the Prader‐Willi group, combined with the presence of EDS and sometimes of cataplexy, are likely to be expressions of a narcoleptic syndrome although this was not sustained by the HI‐A‐DR2 expression above normal. The quality of life of PWS subjects can be improved in some cases by treating them as narcoiept

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1993.tb00323.x

出版商:Blackwell Publishing Ltd    

年代:1993

数据来源: WILEY

摘要:

ABSTRACTYoung patients with Down's syndrome (DS) have high rates of infections, malignancies and autoimmune phenomena. Therefore, DS may be considered as a model of precocious, abnormal ageing of the thymus‐dependent system in man. In DS children less than 6 years of age, the levels of serum immunoglobulins did not differ from healthy controls, but after that age, considerable hyper‐IgG and ‐IgA were found. Furthermore, high levels of IgGl and IgG3 have been found, whereas a progressive decline of IgG2 and IgG4 with age has been observed. The frequency of hepatitis B virus carriers even in the youngest age group is much higher among DS children. It has been reported that an IgG response was detectable in 75% of controls after HBsAg vaccination as compared to the 16–6% of DS patients. The presence of autoantibodies against human thyroblobulin did show a positive association with HB Virus Ag carriers, but only in the oldest DS subjects. Natural antibodies against intestinal antigens are low, while in the presence of cow's milk, abnormally high titres against casein and betalactoglobulin were present. High levels of IgG antibodies against gliadin have been observed. In spite of a normal percentage of CD3‐ and CD2‐positive lymphocytes, a high proportion of cells express low‐avidity receptors for sheep erythrocytes. Although the proportion of CD4+ T‐lymphocyte helper‐cells is normal, a marked imbalance in the CD4+ subpopulations has been documented. The percentage of suppressor‐cytotoxic CD8+ lymphocytes is markedly increased. The responses to phytoemagglutinin and concanavalin A are within the normal range in the first decade of life and decline progressively thereafrer. A recent study reported defective proliferative response to allo‐mixed lymphocyte culture, with decreased expression of the membrane CD25, low secretion of interleukin 2 in the supernatant and depressed allo‐specific cytotoxic activity. Defective production of interferon alfa and gamma in DS has been described in vivo and in vitro. Recently, it has been reported that the absolute number of TCR alfa, beta+ cells was considerably lower for DS subjects than for controls, while DS subjects had a markedly higher proportion of cells expressing TCR gamma and delta. Therefore, it can be concluded that, while the primary immune defect seems to be greatest in the cellular compartment, even the humoral immunity in DS subjects undergoes a precocious ageing, as has already been shown for

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1993.tb00324.x

出版商:Blackwell Publishing Ltd    

年代:1993

数据来源: WILEY

摘要:

ABSTRACTThis study describes seroprevalence and risk factors for hepatitis B in seven centres caring for non‐residential mentally handicapped individuals. Overall, 11% were hepatitis B marker seropositive and 4% had the hepatitis B surface antigen (HBsAg). Male sex and increasing age were associated with seropositive status, and Down's syndrome was associated with the presence of HBsAg. Immediate family members of those with hepatitis B markers were screened and 22% had evidence of heptatitis B markers. Forty‐one family members were identified when the mentally handicapped individual was HBsAg positive and of these 13 (32%) were seropositive. This study demonstrates that hepatitis B is a problem for the non‐residential mentally handicapped population and confirms the risk of infection to their immediate fam

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1993.tb00325.x

出版商:Blackwell Publishing Ltd    

年代:1993

数据来源: WILEY

摘要:

ABSTRACTTo elucidate the roles played by copper‐containing en2yines in the brain degeneration associated with Menkes disease, the brains of brindled mouse hemizygotes (BMs) were studied histochemically and biochemically before and after copper therapy. Light and electron microscopic histochemistry revealed that, while neuronal mitochondria in BM brains demonstrate only a weak diaminobenzidine reaction for cytochrome oxidase, these exhibit strong activity after therapy and in control mice. Biochemical assays of enzyme activity revealed only 30% of the normal level before a single subcutaneous application of 50 |jLg of CuCb, whereas neuronal mitochondria of BMs surviving 8 months after the copper therapy displayed essentially no difference from the controls. Similar results were also gained for superoxide dismutase activity, although the reduction was less marked. The present findings provide direct support for decreased activities of copper‐containing enzymes being responsible for the mitochondrial abnormalities and brain degeneration associated with Menkes dise

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1993.tb00326.x

出版商:Blackwell Publishing Ltd    

年代:1993

数据来源: WILEY

摘要:

ABSTRACTThe authors report six very low birth weight newborn infants who had RDS, IVH and cerebellar porencephalus and later suffered from West syndrome. Four of them have been followed up to the present time and have had MRI scans performed. Their present clinico‐neurological features and MRI findings are described. The authors also raise the possibility of prevention of mental deterioration if anticipatory treatment is started early. Very low birth weight newborn infants with cerebellar porencephalus should be observed more carefully with clinical and EEG examinations to detect Infantile spasms earlier and to protect them from further mental deterioratio

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1993.tb00327.x

出版商:Blackwell Publishing Ltd    

年代:1993

数据来源: WILEY

ISSN:0964-2633    

DOI:10.1111/j.1365-2788.1993.tb00328.x

出版商:Blackwell Publishing Ltd    

年代:1993

数据来源: WILEY