ISSN:0192-8562    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

We have evaluated height, weight, bone age, somatomedin-C levels, and pubertal development in 114 Sicilian patients affected by sickle cell diseases (SCDs). Thirty-one had homozygous sickle hemoglobin (SS), 55 S-β thalassemia, and 28 S-β+thalassemia. In both children and adults, the mean height and weight were ± 1 SD below the normal mean for age. The height was below the normal range only in a few subjects (8 children and 4 adult women). Somatomedin-C levels were within the normal range in most of the patients (37/44 children and 17/22 adults). Bone age revealed a slight delay in skeletal maturation (mean chronological age and bone age were 7.7 ± 3 and 7.11 ± 2.9 respectively;p< 0.05). Mean age at menarche was increased compared to normal subjects. Our findings show that Sicilian patients with SCD exhibit a moderate delay of growth and adolescence but attain a final height within the normal range.

ISSN:0192-8562    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

Outcome findings based on a comprehensive battery of neuropsychological and psychosocial measurements were compared for a set of monozygotic twins. One twin had been diagnosed with acute lymphoblastic leukemia and given prophylactic treatment involving intrathecal methotrexate. Her twin sibling, who developed no signs of the disease, served as a unique control. Remarkably similar profiles were noted for the twins on tests of non-verbal intelligence, visual memory, visual attention, psychomotor speed, and mental flexibility. All performances were in the average to high average range. Significant differences were found on tasks measuring verbal abstract reasoning skills. These differences were postulated to result from prophylactic treatment, leukemia itself, or disruption in normal psychosocial development. As in previous studies, problems with auditory attention were found. However, both children displayed attentional difficulties regardless of treatment status. Emotional assessment indicated that both twins were experiencing a clinically significant level of anxiety that was postulated to play a role in reduced attention skills. Findings argue for the continued need for monitoring the neuropsychological functioning of children given prophylactic treatment and demonstrate the importance of measuring emotional factors in assessment with these children.

ISSN:0192-8562    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

Dyskeratosis congenita (DC) is a rare form of ectodermal dysplasia consisting of dystrophic nails, hyperpigmentation, and leukoplakia often associated with aplastic anemia. DC is considered to be an X-linked recessive trait, but affected females suggest genetic heterogeneity. We report an additional female with DC and review the world literature, indicating transmission in X-linked recessive, autosomal recessive, and autosomal dominant manners. The clinical and genetic aspects of DC are heterogeneous, and different patterns of inheritance are associated with distinct clinical manifestations. DC should be considered in the diagnosis of a patient with any features of the syndrome regardless of gender. Conversely, DC should be considered in patients with aplastic anemia at any age.

ISSN:0192-8562    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

Recombinant interleukin-2 (IL-2) produces clinical responses in –20% of adult patients with renal cell carcinoma and melanoma, with both high-dose bolus and continuous infusion regimens. Because of the lower toxicity of continuous infusion, we elected to investigate in a Phase I trial a 5-day continuous infusion repeated for three weeks in children with malignancies refractory to standard therapy. Nineteen children with solid tumors and eight children with hematologic malignancies were entered into the study. The maximum tolerated dose was 3 X 106U/m2/day, with dose-limiting toxicities occurring in five of seven patients treated at the 5 X 106 U/m2/day dose level. Dose-limiting toxicities included hypotension, hyperbilirubinemia, thrombocytopenia, pulmonary/ pleural effusion, and nephrotoxicity. Serum IL-2 levels were detectable at the higher dose levels and were comparable to those observed in adult patients. Hematologic changes at the higher dose levels included rebound lymphocytosis occurring within 48 h of discontinuation of IL-2, eosinophilia, and decreased platelet counts. No objective responses to therapy were seen. We have identified a dose and schedule of administration for IL-2 in pediatric patients that can be given without intensive care unit support. Pediatric Phase II trials examining the anti-tumor activity of IL-2 given by this schedule are in progress.

ISSN:0192-8562    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

The Quebec Neuroblastoma Screening Project was initiated to assess the clinical and biological aspects of screening infants for the presence of neuroblastoma in North America. All children born in the province of Quebec from May 1, 1989 to April 30, 1994 are eligible for participation. This report provides results from 22 months' accrual of infants who were screened using urine-saturated filter paper for determination of the catecholamine metabolites vanillylmandelic acid (VMA) and homovanillic acid (HVA). More than 157,000 infants have been screened to date at 3 weeks of age, representing 92% of the entire birth population of Quebec. Over 98,000 infants have been screened a second time at 6 months of age, which made up 76% of the Quebec birth cohort. After a two-stage initial screening, 340 (0.13%) infants (182 at 3 weeks and 158 at 6 months) required second laboratory examinations because of elevated levels of urinary VMA, HVA, or both. Twenty infants from the 3-week screening (0.01%) and nine from the 6-month screening (0.01%) were subsequently referred to one of four Quebec pediatric oncology centers for neuroblastoma evaluation. Seven of 20 children from the 3-week screening and two of nine children from the 6-month screening have been identified as having neuroblastoma. During the same period, 14 additional children in the birth cohort were diagnosed clinically with neuroblastoma; eight were diagnosied prior to screening at 3 weeks of age, three children had negative results at 3 weeks of age, two had negative results at 3 weeks and at 6 months of age, and one had never been screened. Various biological parameters on patients detected thus far by screening, including tumor DNA ploidy, N-myconcogene amplification, and histologic classification, as well as serum levels of neuron-specific enolase and ferritin plus urinary catecholamine metabolites, suggest the presence of neuroblastomas with a favorable prognosis. The only patient in the Quebec cohort who had progressive neuroblastoma and died, having never been screened, demonstrated biologic markers indicating an unfavorable prognosis. Results of this preliminary analysis suggest that neuroblastoma in children in North America can be detected by urinary screening with very high specificity and a high predictive value. However, for the Quebec Neuroblastoma Screening Project, it is still far too early to determine whether preclinical detection will lead to reduced population-based mortality for neuroblastoma.

ISSN:0192-8562    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

In Japan, neuroblastoma is a common malignant tumor for children and its prognosis is unfavorable. Since this tumor excretes excessive amounts of vanillylmandelic acid (VMA) and homovanillic acid (HVA), catecholamine metabolites, into urine, both are sensitive diagnostic markers for neuroblastoma. In 1974, to improve the prognosis for neuroblastoma, a mass screening program by a qualitative VMA spot test for early detection of this tumor for 6-month-old infants was started in Kyoto, Japan. Subsequently, mass screening was also conducted in other areas in Japan. In 1985, mass screening commenced as a nationwide program throughout Japan, and in 1988, screening by quantitative measurement of VMA, HVA, and creatinine was recommended by the Ministry of Health and Welfare. During the 6 years from 1984 to 1989, 468 cases of neuroblastoma were detected from among 5,052,165 infants screened by this program. Analysis of findings in the 357 cases detected by mass screening from its inception in Kyoto until December of 1988 have been presented. The survival rate for these cases was 97% (348 of 357 cases). The prognosis of tumors detected by mass screening has clearly been favorable. In addition, survival rates were improved for all cases of neuroblastoma in Kyoto after the introduction of mass screening. The in-creased incidence of neuroblastoma in infants and the change in age distribution of all cases of neuroblastoma following the inception of urinary screening as well as the occurrence of spontaneous regression of neuroblastoma in relation to the screening program are discussed. Future problems facing mass screening for neuroblastoma are also presented.

ISSN:0192-8562    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

In Sapporo City a mass screening program for neuroblastoma aiming at 6-month-old infants has been performed since April 1981. By March 1990, 136,001 infants were screened; 26 true-positive cases of neuroblastoma and six false-negative cases were detected. The sensitivity of the mass screening method was about 80% throughout the 9 years. During the 9-year period, a total of nine children with neuroblastoma who were not screened were also identified. Clinical stage, age at diagnosis, and survival rate for the 32 patients who were screened (26 true positives and six false negatives) were much more favorable than those for the nine patients who were not screened. A remarkable decrease in the incidence of cases of neuroblastoma with advanced clinical stages over 1 year of age, especially among children 1–4 years of age, was noted after the start of the mass screening. The mortality from this tumor in children up to 4 years of age significantly decreased after the start of the urinary screening program. Rescreening at 14 months of age was begun in April, 1991 in Sapporo City. Performing two screening examinations decreases the probability of overlooking a patient. Thus, it is expected that tumors missed on the first screening would be detected by the second screening.

ISSN:0192-8562    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

Our pilot study for neuroblastoma screening started in 1986. The study has progressed through several phases, with use of several analytical methods to a procedure based primarily on the use of automated gas chromatography mass spectrometry. The northern region of England has a relatively static population of approximately 3.5 million, with an annual birth rate of 41,000. The region consists of 16 administrative health districts. In 4 years, we have screened 20,829 infants from four health districts. In this program, we screen all children at 6 months of age. A urine sample is collected on filter paper by a health visitor, either at the time of the infant's routine clinic visit or during the health visitor's follow-up visit at home. In the laboratory, the sample is dried and processed for analysis of homovanillic acid (HVA) and vanillylmandelic acid (VMA), using a benchtop Hewlett Packard gas chromatograph mass spectrometer. The results are related to the creatinine content of the urine. Using cut-off limits of 39 μg/mg of creatinine for HVA and 25 μg/mg of creatinine for VMA, 2,537 infants (12.2%) required a second paper sample and 527 infants (2.5%) were observed with a liquid urine collection. Of these, the conditions of nine infants with elevated levels of HVA or VMA were investigated clinically for the possible presence of neuroblastoma. Two infants were found to have neuroblastoma; the other seven showed no evidence of tumor. In addition, there were three children who, when screened at 6 months of age, had normal levels of HVA and VMA but in whom neuroblastoma subsequently developed.

ISSN:0192-8562    

出版商:OVID    

年代:1992

数据来源: OVID

摘要:

A pilot study has been carried out to assess the feasibility of screening for neuroblastoma in 6-month-old infants in the north of England. A total of 20,829 infants were screened. Two true-positive cases were found, along with eight false-positive and three false-negative cases. It was shown that the concentrations of catecholamine metabolites in the urine are dependent on the creatinine content; centiles have been established to allow this relationship to be taken into account. Five of the eight false-positive cases would have been correctly assessed as normal if the new centiles had been used. Preliminary results lend support to the need for a well-designed study of neuroblastoma screening to be carried out, with death from this disease as the only end point.

ISSN:0192-8562    

出版商:OVID    

年代:1992

数据来源: OVID