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1.
We report on two brothers with hyperimmunoglobulinemia D (patient 1: serum immunoglobulin D [IgD] concentration initially 61 IU/ml, later on 340 IU/ml; patient 2: serum IgD concentration 144 IU/ml; normal <100 IU/ml, 97th centile) and periodic fever syndrome (HIDS). Both are compound heterozygous for the mevalonate kinase (MVK) mutations V377I and I268T. They developed significant B cell cytopenia (7%, 129/μl and 11%, 132/μl, respectively; normal ranges 12–22%, 300–500/μl) with hypogammaglobulinemia (IgG 5.48 g/l and IgG 5.22 g/l, respectively; normal range IgG 6–13 g/l). Furthermore, the clinical spectrum shows an interesting atypical autoinflammatory symptomatology. The therapy consisted of prednisone, azathioprine, and intravenous immunoglobulins (IVIG), which results in reduced incidence and severity of febrile attacks. Conclusion: The pathogenesis and clinical presentation of HIDS is still not fully understood and show a great variability. To our knowledge, severe B cell cytopenia in children with HIDS has not been reported before. Furthermore, the therapy of febrile episodes is still performed on an individual basis in affected patients.  相似文献   

2.
Iodine is an essential nutrient for the synthesis of thyroid hormones that are critical for brain development. Iodine deficiencies were prevalent in China until the introduction of universal salt iodization (USI) in 1995. USI has been considered as the world’s best achievements. This study aims to assess children’s iodine nutrition and goiter status in Zhejiang Province in order to provide reasonable suggestions to the government for policy-making under the USI period. A cross-sectional survey in Zhejiang Province was conducted to children aged 8–10 years by stage cluster random sampling method. Spot urine samples were collected and analyzed. Thyroid ultrasonography examination was performed by special trained technicians using a 7.5-MHz transducer. Fasting venous blood samples were collected and analyzed for thyroid functional status. The median urinary iodine concentration was found to be 173.3 μg/L. The percentage of urine samples with iodine concentration <100 μg/L, 100–300 μg/L, and >300 μg/L was 15.5, 42.0, and 13.3 %, respectively. Goiter prevalence rate with iodine concentration <100 μg/L, 100–300 μg/L, and >300 μg/L was 6.8, 10.0, and 14.9 %, respectively, with no significant difference. Children with goiter have lower serum FT3 and T3 concentrations compared to those without goiter (p?<?0.05). Conclusions: The median urinary iodine concentration of children aged 8–10 years falls in optimal iodine status as recommended by WHO/UNICEF/ICCIDD. Maintaining USI at an appropriate level is an important part of preventing iodine deficiency disorders and should always be based on routine monitoring urinary iodine concentration by the province.  相似文献   

3.
Alpha1-fetoprotein (AFP) is an alpha1-glycoprotein which can be found in high concentration during fetal development in many mammals, birds, sharks and, also, man. The alpha-fetoproteins of various species have similar physico-chemical properties and often common antigenic determinants. Differences of microheterogeneity depend on a different content of sialin-acid. During human fetal development the serum AFP concentration falls with increasing gestational age. 4-5 weeks after birth AFP can be detected usually in low serum concentrations. Using more sensitive immunulogic techniques e.g. radioimmunoassay there was shown that AFP is present in sera of normal adults in concentrations of 10-20 ng/ml. AFP serum concentrations rise physiologically during pregnancy up to 500-550 ng/ml. During fetal development liver, yolk sac and gastrointestinal tract are the major sites of synthesis. In primary liver cell carcinoma, hepatoblastoma and in teratoblastoma containing yolk sac tissue AFP synthesis rises in tumor cells; the AFP serum concentration increases above 2 microgram/ml. In patients with benign liver diseases e.g. virus hepatitis, a transient rise of AFP serum concentrations was seen. Moreover, increased levels of AFP were found in hereditary diseases e.g. congenital tyrosinemia, ataxia-telangiectasia and in the amniotic fluid in congenital nephrosis of Finnish type. AFP assay in serum is clinically important for the control of course and treatment of primary liver cell carcinoma and teratoblastoma. AFP assay in amniotic fluid is a method for the prenatal detection of neural tube defects and the fetal distress syndrome, especially.  相似文献   

4.
α-Fetoprotein     
α-Fetoprotein (AFP) measurements have clinical implications in fetal medicine and, in infants and older children, in detection, differential diagnosis and monitoring of malignant disease. Maternal serum AFP levels constitute part of a multiple-marker test used in early second-trimester screening to predict risk of fetal chromosomal abnormalities. Those individuals with increased risk are offered further definitive diagnostic investigation. Second-trimester screening is now increasingly being superseded by first-trimester screening with other serum markers and ultrasound. As AFP is only produced physiologically during fetal development, elevated serum levels after the first two post-natal years usually indicate the presence of a malignant disease process. Before this time, levels may be purely physiological and therefore serial values should be plotted on a logarithmic chart to ensure that they are falling appropriately, with a typical half-life of ~5-6 days. If not, further investigation should be undertaken. Serum AFP is raised in a significant proportion of germ cell tumours (GCTs), hepatoblastoma and hepatocellular carcinoma (HCC). In suspected cases of GCT, serum human choriogonadotropin (HCG) estimation should also be performed. For possible intracranial GCTs, both serum and cerebrospinal fluid levels of AFP and HCG should be measured, ideally before neurosurgical biopsy. In malignant conditions, serum AFP may be used for diagnosis, treatment monitoring, surveillance for disease recurrence and prognostication. Immunohistochemistry for AFP using antibody staining is routinely used to assist pathological diagnosis on tissue sections where the differential includes GCT, hepatoblastoma and/or HCC. Elevations of serum AFP also occur in non-malignant conditions such as chronic liver disease.  相似文献   

5.
Serum alphafetoprotein (AFP) was assayed in 154 pregnant women in midtrimester to evaluate its efficacy as an indicator of fetal wellbeing. Raised serum AFP level accurately predicated the presence of congenital malformations in two fetuses (anencephaly in one and duodenal atresia in another). One fetus with meningomyelocele was not detected by AFP because of estimation at an early gestation. Low AFP levels showed a significant correlation with neonatal morbidity (P< 001). The AFP levels did not correlate with neonatal death.  相似文献   

6.
Pregnant women are prone to iodine deficiency due to the increased need for iodine during gestation. Progress has recently occurred in establishing serum thyroglobulin (Tg) as an iodine status biomarker, but there is no accepted reference range for iodine sufficiency during pregnancy. An observational study was conducted in 164 pregnant women. At week 16 of gestation urinary iodine concentration (UIC), serum Tg, and thyroid functions were measured, and information on the type of iodine supplementation and smoking were recorded. The parameters of those who started iodine supplementation (≥150 μg/day) at least 4 weeks before pregnancy (n = 27), who started at the detection of pregnancy (n = 51), and who had no iodine supplementation (n = 74) were compared. Sufficient iodine supply was found in the studied population based on median UIC (162 μg/L). Iodine supplementation ≥150 μg/day resulted in higher median UIC regardless of its duration (nonusers: 130 μg/L vs. prepregnancy iodine starters: 240 μg/L, and pregnancy iodine starters: 205 μg/L, p < .001, and p = .023, respectively). Median Tg value of pregnancy starters was identical to that of nonusers (14.5 vs. 14.6 μg/L), whereas prepregnancy starters had lower median Tg (9.1 μg/L, p = .018). Serum Tg concentration at week 16 of pregnancy showed negative relationship (p = .010) with duration of iodine supplementation and positive relationship (p = .008) with smoking, a known interfering factor of iodine metabolism, by multiple regression analysis. Serum Tg at week 16 of pregnancy may be a promising biomarker of preconceptual and first trimester maternal iodine status, the critical early phase of foetal brain development.  相似文献   

7.
ObjectiveTo estimate serum pro-renin, and its clinical significance, as a marker of chronic renal disease in posterior urethral valve (PUV) patients.Patients and methodsForty patients with a PUV that were admitted to the hospital between 2010 and 2012 were reviewed. Twenty age-matched patients who were admitted for other non-urological diseases were selected for control. Clinical parameters, serum creatinine, urea, eGFR (estimated glomerular filtration rate) and serum pro-renin were analysed before and after valve ablation.ResultsForty patients with PUV were included in the study. Three groups were formed according to age: <1 year, 1–3 years, >3 years. Pro-renin was measured using an ELISA (enzyme linked immunosorbent assay) kit and ‘Graph Pad Prism’ Software. The Spearman's rho test was used for correlation. Serum pro-renin had a negative correlation with the age group (correlation coefficient −0.395, P-value 0.012), eGFR (correlation coefficient −0.850, P-value < 0.001) and follow-up eGFR (correlation coefficient −0.471, P-value 0.002). The pro-renin level correlated positively with serum creatinine at presentation (correlation coefficient 0.671, P-value < 0.001), blood urea at initial presentation (correlation coefficient 0.684, P-value < 0.001), serum creatinine at follow-up (correlation coefficient 0.546, P-value < 0.001) and blood urea at follow-up (correlation 0.603, P-value < 0.001).ConclusionPro-renin measured before PUV repair is associated with renal function three months after surgery.  相似文献   

8.
Ataxia telangiectasia (AT) is an autosomal recessive multisystem disorder with increased radiosensitivity and cancer susceptibility. The responsible gene (ATM) consists of 66 exons and a coding region of 9171 bp which precludes direct sequencing as a screening assay for confirmation or exclusion of the clinical suspicion of AT. Peripheral blood mononuclear cells of 330 patients referred for the exclusion of AT were exposed to ionizing radiation (IR) and incubated for 72 h in the presence of phytohemagglutinin. Using bivariate BrdU-Hoechst/ethidium bromide flowcytometry, the following cell cycle parameters were ascertained: (1) proportion of non-proliferating (G0,G1) cells as a measure of mitogen response, (2) proportion of first-cycle G2-phase cells relative to the growth fraction (G2/GF) as a measure of radiosensitivity. Of the cases tested, 94.2% could be unequivocally assigned either to the AT-negative or the AT-positive group of patients. Of the AT-positive cases, 11 were confirmed by ATM mutation analysis. Nineteen cases presented with non-conclusive results, mostly due to poor mitogen response; however, a combination of cell-cycle data with serum AFP concentrations led to the exclusion of AT in all but two of the uncertain cases. Substitution of ionizing radiation by the radiomimetic bleomycin was additionally tested in a small series of patients. We conclude that cell-cycle testing complemented by serum AFP measurements fulfills the criteria as a rapid and economical screening procedure for the differential diagnosis of juvenile ataxias.  相似文献   

9.
Alpha fetoprotein levels in neonatal hyperbilirubinaemia   总被引:1,自引:0,他引:1  
Serum alpha fetoprotein (AFP) levels were studied in 15 neonatally hyperbilirubinaemic children and 15 controls matched for sex and gestational age. All children were born between 38 and 40 weeks of gestation. During the first seven weeks of postnatal life hyperbilirubinaemic children had serum AFP concentrations over twice as high as controls. At the age of 5-7 days the mean (+/- S.E.M.) serum AFP values were 52.4 +/- 5.8 mg/l for hyperbilirubinaemic children and 24.8 +/- 4.3 mg/l for controls (p less than 0.001). At 20-25 days of age they were 7.28 +/- 1.10 and 2.75 +/- 0.45 mg/l, respectively (p less than 0.001), and at 40-49 days 1.39 +/- 0.21 and 0.46 +/- 0.07 mg/l (p less than 0.001). However, no correlation was found between serum bilirubin and AFP concentrations in hyperbilirubinaemic children.  相似文献   

10.
There is an increasing need to understand long‐term metabolic changes and resultant comorbidities because life expectancy is increasing after pediatric kidney and liver transplants. We evaluated differences in classic and novel cardiometabolic biomarkers among obese and normal weight adolescent transplant recipients. We enrolled a total of 80 adolescent (mean±SD, 14.8 years ±3.0) transplant recipients (63 kidney, 17 liver) with mean duration from transplantation of 6.0 (±4.1) years. Among kidney transplant recipients, overweight and obese individuals had higher leptin (16.7 vs 7.5 μg/mL, P<.001), lower HDL (1.1 vs 1.3 mmol/L, P=.02), higher free fatty acid (0.6 vs 0.5 mmol/L, P=.03), higher apoB‐to‐apoA1 ratio (0.8 vs 0.6, P=.03), and higher glucose (5.8 vs 4.3 mmol/L, P=.03) concentrations compared to normal weight individuals. Regardless of obesity status, over half of all participants (57.5%) were considered at high cardiometabolic risk using consensus guidelines, and this was more pronounced for kidney transplant recipients (61.9%). Post‐transplantation adolescents have increased cardiometabolic risk characterized by traditional risk factors of obesity and diabetes. The presence of obesity significantly worsens biomarkers of cardiometabolic risk. Future studies should explore whether treatment of obesity can improve the health and long‐term outcomes for children undergoing solid organ transplant.  相似文献   

11.
Human lead exposure has many sources. Relative importance of these sources varies widely according to geographic regions and human lifestyle. The impact of lead exposure on health has been well studied and public health interventions have been conducted.ObjectiveThe aim of this study was to evaluate current prevalence of lead burden in neonates, and seek for sources of maternal and fetal intoxication.Population and methodsA prospective multicentre study was conducted by the “Réseau périnatal 92” on a population of pregnant women attending 3 maternal wards in the north of ‘Hauts-de-Seine’ department in France. Between December 2003 and May 2004, a total of 1021 pregnant women were included. All patients signed an informed consent before participating in the study. Cord blood samples were collected at delivery for lead measurements.ResultsThe mean cord blood lead concentration was 23.2 μg/l. Eighteen neonates over 1021 (1.8%) had lead levels above 100 μg/l. An environmental query was conducted by the social and public health office of the department (DDASS), and data were collected regarding the state of the housing and the lifestyle of the concerned family. Main sources of lead intoxication were ‘tagine’ food plates in 83.3% of cases, ‘khôl’ powder (used as eyeliner) in 88.9% of cases and substandard housings in 22.2% of cases. A specialized paediatric follow-up for the 18 neonates was performed.ConclusionWith the exception of substandard housing (old lead painting), other sources of lead intoxication were discovered: ‘tagine’ plates and ‘khôl’ powder. Almost all of these products came from Morocco. A public health intervention would be able to inform the population about these yet unknown sources of lead intoxication.  相似文献   

12.
It has been suggested that the quantitative estimation of serum alpha-1-fetoprotein may help in distinguishing the neonatal hepatitis syndrome from biliary atresia. We measured the serum AFP concentration in 52 neonates and infants with various hepatobiliary disorders, including neonatal hepatitis syndrome (group I), biliary atresia (group II), and other hepatopathies such as choledochal cyst (group III). The mean serum AFP concentration in patients with neonatal hepatitis was significantly greater than the mean concentration in the other two groups. There was no significant difference between the mean serum AFP concentrations in patients with biliary atresia and in group III patients. Patient age was noted to be an important factor: Serum AFP levels greater than 35 microgram/ml in infants one to four months of age suggpst the diagnosis of neonatal hepatitis syndrome. Serum AFP levels below 10 microgram/ml in infants less than four months of age suggest the diagnosis of biliary atresia or hepatopathies other than neonatal hepatitis. However, the variable and significant overlapping of serum AFP values between 10 and 35 microgram/ml limit the diagnostic value of this test.  相似文献   

13.
ObjectivesDown syndrome (DS), which is caused by the trisomy of chromosome 21, is the most frequent of all genetic syndromes. The current study aims to estimate the prevalence of lower urinary tract symptoms (LUTS) in individuals with DS buy using the Dysfunctional Voiding Symptom Score (DVSS) and correlate with functional constipation, age, and gender, as well as determine the most sensitive and specific factors associated with LUTS.MethodsLUTS was assessed in individuals with DS using a cross-sectional study through the application of a validated and adapted version of the DVSS for the Brazilian population. The presence of functional constipation was evaluated according to the Rome III criteria.ResultsOf the 114 individuals assessed, 84 were included in the study (median age 16 ± 5.0 years, 66.7% female). The prevalence of LUTS was 27.3%. The symptoms were more frequent in males (OR 3.0, 95% CI 1.1–8.3, p = 0.03) and in individuals younger than 10 years of age (OR 5.2, 95% CI 1.8–14, p = 0.001). Functional constipation was observed in 50% of subjects. It was detected in 95.65% of the individuals with LUTS and 32.78% without LUTS (OR 45.1, 95% CI 5.66–301, p = 0.001). The symptom listed in question 8 (“push to pee”) was the most specific indicator. When present, this symptom indicated a higher probability of LUTS (LR+ = 6.3), while the symptom listed in question 4 (“push for bowel movements to come out”) showed high sensitivity and, when absent, indicated a lower probability of LUTS (LR– = 0.1).ConclusionsLUTS was more prevalent in young males with DS and appeared to improve with age. Functional constipation was strongly associated with LUTS. These findings will contribute to raising the awareness of professionals involved in the follow-up of individuals with DS regarding the clinical manifestations and the need for a standardized investigation of LUTS.  相似文献   

14.
Alphafetoprotein (AFP) represents an embryo-fetal glycoprotein. The fetus it enters amnion fluid and maternal serum. Increased concentrations are observed in these fluids in the presence of certain fetal malformations, e.g. neural tube defects and anterior abdominal wall defects or omphalocele, and in congenital nephrosis of the Finnish type. An increased concentration also signals general risks as an increased tendency to abortion or to low birth weight infants. Very low maternal serum AFP indicates an increased risk for trisomy 21. Postnatally increased AFP-concentration has been described in ataxia-teleangiectasia (Louis-Bar-Syndrome) and in severe combined immunodeficiency syndrome. Although the AFP-determination is mainly used for obstetric prenatal care and diagnosis it also has an importance for the pediatrician as an early indicator of special risks.  相似文献   

15.
Mandatory iodine fortification of bread was introduced in 2009 in Australia in response to the reemergence of iodine deficiency. The aim of this study was to assess iodine intake, urinary iodine concentration (UIC) and their correlation in pregnant women (n = 783) recruited from South Australia 2 years following mandatory iodine fortification. Total iodine intake (food and supplements) and UIC were assessed at study entry (<20 weeks') and at 28 weeks' gestation. Mean (±SD) total iodine intake at study entry and 28 weeks' gestation was 307 ± 128 μg/day and 300 ± 127 μg/day, respectively. Overall, 85.9% of women met the estimated average intake (≥160 μg/day) for iodine in pregnancy, but only 44.5% met the estimated average intake from food alone. The main food sources of iodine were dairy foods and iodine‐fortified bread. Median (interquartile range) UIC at study entry and 28 weeks' gestation was 189 μg/L and 172 μg/L, respectively. At study entry, median UIC was higher in women taking supplements containing iodine ≥150 μg/day compared with those containing iodine <150 μg/day (221 μg/L vs. 163 μg/L, p = .003) and those not taking supplements containing iodine (221 μg/L vs. 159 μg/L, p < .001). At 28 weeks' gestation, the median UIC for the groups was 187, 152 and 141 μg/L, respectively (each of the two comparisons yielded p < .001). Total iodine intake (food and supplements) from all women was positively, though weakly, correlated with UIC (r = .23, p < .001). In conclusion, pregnant women in South Australia are iodine sufficient postmandatory iodine fortification of bread. However, without iodine supplementation, it may be difficult to achieve a UIC >150 μg/L.  相似文献   

16.
Abstract. Ikonen, R. S., Lindgren, J., Niemi, E., Sorto, A. E., Seppälä, M. and Ruoslahti, E. (Department of Paediatrics, Central Hospital of Tampere; Department of Bacteriology and Immunology, University of Helsinki; Department of Paediatrics, Central Hospital of Satakunta, Pori; Department of Obstetrics and Gynecology, University Central Hospital, Helsinki, Finland and Division of Immunology, City of Hope National Medical Center, Duarte, California, USA). Alpha fetoprotein levels in neonatal hyperbilirubinaemia. Acta Paediatr Scand, 69:59, 1980.—Serum alpha fetoprotein (AFP) levels were studied in 15 neonatally hyperbilirubinaemic children and 15 controls matched for sex and gestational age. All children were born between 38 and 40 weeks of gestation. During the first seven weeks of postnatal life hyperbilirubinaemic children had serum AFP concentrations over twice as high as controls. At the age of 5–7 days the mean (± S.E.M.) serum AFP values were 52.4.i-5.8 mg/I for hyperbilirubinaemic children and 24.8 ± 4.3 mg/l for controls ( p < 0.001). At 20–25 days of age they were 7.28 ± 1.10 and 2.75 ± 0.45 mg/I, respectively ( p < 0.001), and at 40–49 days 1.39 ± 0.21 and 0.46 ± 0.07 mg/l ( p < 0.001). However, no correlation was found between serum bilirubin and AFP concentrations in hyperbilirubinaemic children  相似文献   

17.

Background  

There are neither sensitive nor specific laboratory tests for measuring disease activity in localized scleroderma (LS). Monitoring is done almost exclusively by clinical assessment. Our aim was to determine whether serum concentrations of TGFβ1 are a good biomarker of disease activity in children with LS.  相似文献   

18.
We assayed alpha fetoprotein (AFP) in serum samples from 2,735 women during 14 to 20 weeks of gestation. Serum AFP levels were elevated in the presence of neural tube defect (NTD) and gut atresia in fetus, twin pregnancies, preterm delivery and neonatal complications. In two of the 23 cases of fetal NTD the diagnosis was suggested by AFP assays, with apparently normal ultrasound findings. Low maternal serum AFP levels were associated with chromosomal abnormalities and hydatidiform molar pregnancy. Calculation of risk for Down syndrome based on maternal serum AFP and maternal age helped to reduce the number of women requiring amniocentesis. Maternal serum AFP assay was helpful in the management of threatened abortion, suspected intrauterine death, and maternal toxoplasma infection. In seven cases where maternal serum AFP was high but ultrasound studies were normal, male babies were delivered. Thus maternal serum AFP assay proved useful in narrowing down the group of women requiring more detailed surveillance and diagnostic studies.  相似文献   

19.
Blood values including serum iron and transferrin were measured in 147 healthy children 3-6 years of age. An iron supplement given to 122 children showed no significant changes in the mean values of the total material in haemoglobin (13.7-13.7 g/100 ml), V.P.R.C. (40-40 ml/100 ml), R.B.C. (4.93-4.67 mill/μl), MCHC (34.1-34.5 g/100 ml), serum iron (122 -106 μg/100 ml) and TIBC (410-397 μg/ 100 ml). These values are therefore considered as normal values for the age group in question. No iron deficiency with or without anaemia was observed.  相似文献   

20.
《Archives de pédiatrie》2017,24(12):1344-1349
Cryptosporidium is the most important diarrhea-causing protozoan parasite, with severe health consequences for very young, malnourished children living in endemic areas and for immunocompromised individuals. Cryptosporidium is widely distributed and disease transmission can occur through person-to-person or animal-to-person contact, or contaminated food or water (drinking or swimming), leading to large outbreaks. The zoonotic Cryptosporidium parvum and the anthroponotic Cryptosporidium hominis are responsible for the majority of human cases. Specific therapy, primarily nitazoxanide, has some effect in healthy individuals, but drugs effectively preventing or controlling this disease in all clinical situations are not yet available. In France, as elsewhere in Europe, little epidemiological and molecular information is available regarding the burden of cryptosporidiosis in children. Cryptosporidium is usually not tested in all fecal samples submitted for routine parasitological examination and only tested on special request, primarily in immunocompromised patients. Between January 2007 and October 2014, out of a total of 5337 immunocompetent children with diarrhea in Rouen university hospital's pediatrics department, the prevalence of Cryptosporidium infection was 0.97 % (52 infected children). The median age of infected children was 3 years (range, 5 months to 11 years) and 80 % of the cases occurred between July and November. Thirty-six (69.2 %) and 16 (30.8 %) infections were due to C. parvum and C. hominis, respectively. The fact that the species C. parvum, mainly the IIaA15G2R1 subtype, was detected in most locally infected children suggests that cryptosporidiosis must primarily be considered as a zoonotic disease in Upper Normandy.  相似文献   

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