Vitamin D metabolites in idiopathic infantile hypercalcaemia.

Metabolites of vitamin D were measured in plasma from 83 patients with idiopathic infantile hypercalcaemia syndrome who were mentally handicapped but had normal calcium values at the time of the study. No significant difference was detected in the mean plasma concentrations of 25-hydroxyvitamin D2, 1,25-dihydroxyvitamin D, 24,25-dihydroxyvitamin D3, or 25,26-dihydroxyvitamin D3 between patients and age matched controls. The mean plasma concentration of 25-hydroxyvitamin D3 was significantly lower in patients than controls but this may be a secondary phenomenon related to less sunlight exposure. In addition, two hypercalcaemic patients with this syndrome were studied during the first year of life, and were found to have normal concentrations of vitamin D metabolites. These findings do not support a role for abnormal vitamin D metabolism in the pathogenesis of this syndrome.     

Prednisolone and cellulose phosphate treatment in idiopathic infantile hypercalcaemia with nephrocalcinosis

Abstract: A girl presented at the age of 8 months with idiopathic infantile hypercalcaemia complicated by hypercalciuria, nephrocalcinosis and failure to thrive. Her hypercalcaemia was partially corrected by prednisolone, but resolved with the addition of cellulose phosphate. Her height and weight showed significant improvement during the treatment period. Cellulose phosphate should be considered in the management of children with idiopathic infantile hypercalcaemia and nephrocalcinosis.     

Age at diagnosis in childhood acute lymphoblastic leukemia

Age at initial diagnosis in ALL has been identified in numerous studies to be an important prognostic factor. Data were examined from a large series of patients entered on ALL clinical trials of the Childrens Cancer Study Group during the period 1972-1983. These data confirm the importance of age as a prognostic factor and show that even after adjustment for other factors by multivariate analysis, age remains a highly significant predictor of outcome. The data suggest that there are three main age groups with different prognoses: infants (less than 1 year at diagnosis), the 1-9 age group, and those 10 or greater. The best prognosis is found in the intermediate age range and the worst in the infant group. While age is presumably a surrogate factor reflecting the effect of factors with more direct and explainable relationships to the disease process, analysis of data in this review and from other recent studies do not yet adequately explain the age effect in terms of other prognostic factors.     

Age at diagnosis of autism spectrum disorders

Early identification of autism has become a national priority but, despite efforts, there are children who are being identified at a later age. In this study, children of Hispanic and African American origin, foreign-born children, and children born to foreign mothers were more likely to be diagnosed later.     

Pitfalls in the diagnosis of idiopathic pulmonary haemosiderosis.

Idiopathic pulmonary haemosiderosis is a very rare but devastating disorder. Diagnosis is sometimes difficult and the clinical course exceedingly variable, as illustrated by this report of a girl, aged 2 years 4 months, with severe iron deficiency anaemia. There was no response to iron therapy and transfusions. Sustained and striking reticulocytosis associated with low haptoglobin mimicked haemolytic anaemia. Positive faecal blood test was documented after repeated testing. There were no pulmonary symptoms. A chest radiograph showed bilateral diffuse alveolar infiltrates. Bronchoalveolar lavage fluid showed numerous siderophages. High resolution computed tomography of the thorax revealed early pulmonary fibrotic changes. Recurrent reticulocytosis appeared to be a very useful sign of recurrent bleeding episodes.     

False diagnosis of papilloedema and idiopathic intracranial hypertension.

The diagnosis of idiopathic intracranial hypertension (IIH) relies heavily on the appearance of the optic disc. We report eighteen children referred to us over a 3 year period with disc swelling and suspected IIH. Following a tertiary ophthalmological review, papilloedema was excluded in ten with buried drusen, disc crowding, pseudopapilloedema, or misinterpretation of normal appearances. In these ten children, five had a mean opening pressure on lumbar puncture of 27.2 cm H2O, range 19-32, which was significantly lower than those with IIH (37.5 cm H2O, range 29-47; p<0.01). We conclude that diagnosis of IIH is difficult, and that more precisely defined criteria for assessment and diagnosis are needed.     

Age and height at diagnosis in Turner syndrome: influence of parental height

Age and height at diagnosis was studied in 100 patients with Turner syndrome: 41 with the 45,X karyotype and 59 with various other karyotypes. In 15 patients diagnosis was made at birth. In the remaining patients median age at diagnosis was 12.9 years in those with 45,X karyotype and 11.6 years in the others. Mean +/- SD height standard deviation score at diagnosis was -3.2 +/- 0.9 for the patients with 45,X karyotype and -2.8 +/- 0.9 for the others. A significantly negative correlation was found between age and height standard deviation score at diagnosis (r = - .51; P less than .005). Corrected mid parental height was significantly correlated with height standard deviation score at diagnosis (r = .49; P less than .005), but not with age at diagnosis (r = -.08). It is concluded that although Turner syndrome is a congenital disorder, the diagnosis is usually made too late, at a chronological age when a marked height deficit is present. To make an early diagnosis, a cytogenetic examination should be recommended for all girls with height more than 2 SD below the mean for age or more than 2 SD below corrected mid parental height.     

Idiopathic hypercalcaemia. The effect of hypercalcaemia on renal function (author's transl)]

A case of idiopathic hypercalcaemia diagnosed in a six months old infant is reported. Nephrologic symptoms were conspicuous: decreased clearance, increased serum creatinin and urea nitrogen level, restricted ability of concentration, damage of the renal acidification; slight nephrocalcinosis was shown histologically. The serum calcium level and calcium excretion became normal under the treatment with hydrochlorothiazide and prednisolon. The function of the kidney and the general status of the infant significantly improved.     

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??Abstracts?? Objective To study the relationship between procalcitonin ??PCT?? and the pathogenesis of juvenile idiopathic arthritis ??JIA??. Methods We tested the values of PCT and CRP of 150 JIA cases. To find the diagnostic value of PCT and CRP in JIA with bacterial infection??we compared the clinical value of PCT and that of CRP?? including sensitivity?? specificity??positive predictive value and negative predictive value. Besides?? we tested the level of PCT in various patterns of JIA. Results PCT value in cases of JIA with bacterial infection was ??3.56±0.84???? which was markedly higher than that in JIA cases with virus infection??0.05±0.01????P??0.05??and that in JIA disease activited without infection group??0.19±0.01????P??0.05??and that in control group .However?? there wasn’t significant difference between JIA cases with virus infection and control group. If we considered diagnostic positive threshold of JIA cases without virus infection as PCT≥0.5 μg/L??then its sensitivity?? specificity?? positive predictive value??negative predictive value ?? positive likelihood ratio and negative likelihood ratio were 76.2%??87.6%??50.0%??95.8%??6.14 and 0.27?? respectively. In 98.99% of the JIA activity without infection group PCT value was??0.5 μg/L??the median was 0.2 μg/L. In 66.7% of the JIA activity without infection group??PCT??0.1 μg/L. Conclusion Testing PCT value has significant role in diagnosing JIA with bacterial infection ?? and the prediction value is superior to CRP infection. It can be considered to recommend PCT??0.5 μg/L as the diagnosis of JIA infection in patients with critical value.     

Age at diagnosis, gender, and metabolic control in children with type 1 diabetes

Ojective:  To examine whether age at diagnosis and gender affect early metabolic control in children with type 1 diabetes.
Design and methods:  Data on age at diagnosis, gender, pubertal status, and metabolic control were gathered by a retrospective chart review of children diagnosed between 1992 and 2005. Mean hemoglobin A1c (HbA1c) values were compared at five time points: at diagnosis and at 6, 12, 24, and 36 months after diagnosis.
Results:  At diagnosis, girls aged 6–12 years presented with significantly higher HbA1c levels than girls diagnosed at older or younger ages. Their HbA1c at diagnosis was also significantly higher than that in boys of the same age. There was no gender difference among children diagnosed at ages 0–5 or 13+ yr. At 6 months after diagnosis, only age at diagnosis was associated with metabolic control, with children diagnosed when older presenting with lower HbA1c levels. At 12, 24, and 36 months after diagnosis, there were no significant effects of age at diagnosis or gender on glycemic status.
Conclusion:  At initial diagnosis, girls in the 6–12 age group presented with higher HbA1c levels compared with boys and girls of other age groups. Although endocrine changes associated with puberty may partly explain the findings, more investigation to elucidate mechanisms accounting for the interaction of age and gender with glycemic status is needed.     

Age at diagnosis of vesicoureteric reflux after urinary infections: historical changes

AIM: Efforts are currently made to detect vesicoureteric reflux (VUR) early after urinary infections in order to limit secondary renal damage. This study investigated the extent to which recommendations for the detection of VUR are put into practice, and their influence on the age at diagnosis. METHODS: The age at diagnosis of VUR after urinary tract infections was analysed in 126 patients (48M, 78F) referred to a tertiary centre in Milan between 1976 and 1999. RESULTS: The median age at diagnosis was 34 mo in subjects born before and 8 mo (p < 0.001) in those born after 1988. The difference was statistically significant in female but not in male subjects. The figures from Milan were compared with those for 102 patients (35M, 65F) born between 1946 and 1970, treated in Melbourne and reported in 1976. In Melbourne the median age at diagnosis was 1-2 y for boys and 5-6 y for girls; in Milan, the corresponding figures were <1 y and 1-2 y. The difference between Melbourne and Milan was statistically significant for both genders. CONCLUSION: In Milan VUR is now detected earlier than in the past. This trend is more marked in females than in males, but reflux is still detected earlier in boys.     

Investigation and management of hypercalcaemia in children

Hypercalcaemia is a far less common finding in children than in adults. It may present with characteristic symptoms or may be identified as a coincidental finding in children investigated for a variety of complaints. Assessment of hypercalcaemia requires an understanding of the normal physiological regulation of plasma calcium by the combined actions of parathyroid hormone, 1,25-dihydroxyvitamin D(3) and the calcium sensing receptor. Hypercalcaemia will usually require treatment using a number of different modalities but occasionally it can be due to a benign asymptomatic condition that requires no intervention. This article presents a logical approach to the investigation and subsequent management of this condition.     

幼年特发性关节炎的早期诊断

幼年特发性关节炎(JIA)疾病本身临床表现多样化,无特异性症状、体征和血清学改变,因此对于疾病的早期诊断存在很大困难和挑战.文章从JIA的早期临床特点,检测早期诊断相关自身抗体,应用敏感的影像学检查手段,以及骨密度检测等多方面论述目前早期JIA的进展,以提高对早期JIA的诊断水平,早期开始有效治疗,改善预后.     

Pitfalls in the diagnosis of idiopathic pulmonary haemosiderosis

Idiopathic pulmonary haemosiderosis is a very rare but devastating disorder. Diagnosis is sometimes difficult and the clinical course exceedingly variable, as illustrated by this report of a girl, aged 2 years 4 months, with severe iron deficiency anaemia. There was no response to iron therapy and transfusions. Sustained and striking reticulocytosis associated with low haptoglobin mimicked haemolytic anaemia. Positive faecal blood test was documented after repeated testing. There were no pulmonary symptoms. A chest radiograph showed bilateral diffuse alveolar infiltrates. Bronchoalveolar lavage fluid showed numerous siderophages. High resolution computed tomography of the thorax revealed early pulmonary fibrotic changes. Recurrent reticulocytosis appeared to be a very useful sign of recurrent bleeding episodes.