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1.
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We report a rare case of permanent neonatal diabetes (PND) due to insulin (INS) gene mutation in a 51‐month‐old girl who presented with hyperglycemia in the neonatal period. Mutational analysis of KCNJ11 and INS was performed and this detected a novel heterozygous c.38T>G (p.Leu13Arg) INS de novo mutation. The non‐conservative change substitutes the highly conserved L13 residue within the hydrophobic core region of the preproinsulin signal peptide. Given the frequent tendency of heterozygous INS mutations to exhibit dominant negative disease pathogenesis, it is likely that the mutant preproinsulin perturbed the non‐mutant counterpart progression and processing within the β‐cells, and this resulted to a permanent form of congenital diabetes.  相似文献   

3.
Vitamin D deficiency may be a risk factor for negative outcome in pregnancy, such as pre‐term labour, low birthweight, intrauterine growth retardation and gestational diabetes. This study aimed to evaluate the relationship between vitamin D and pre‐eclampsia. This was a case–control study of 59 pre‐eclamptic women and 59 healthy pregnant women selected in two hospitals in Ahvaz, Iran. Women with term singleton pregnancy, nulliparous and of reproductive age were selected. Venous blood samples (2 mL) were taken and the level of 25‐dihydroxy vitamin D (25‐OH‐D) was measured. If the levels of 25‐OH‐D were less than 10 ng mL?1, between 10 ng mL?1 and 29 ng mL?1 and more than 30 ng mL?1, they were considered as indicating deficient, insufficient and normal 25‐OH‐D concentrations, respectively. The independent t‐test, Mann–Whitney U‐test, chi‐square and logistic regression were used for analysing the data. Vitamin D deficiency was significantly higher in the pre‐eclampsia group [odds ratio (OR) = 24.04, confidence interval (CI) = 2.10–274.8, P = 0.01]. Older women (30–35 years) were more likely to develop pre‐eclampsia compared with the control group (OR = 10.36, CI = 2.18–49.09, P = 0.003). The results showed that women with body mass index (BMI) <20 were more likely to develop pre‐eclampsia. The ages between 20 years and 30 years and normal BMI were not the risk factors for pre‐eclampsia. Vitamin D deficiency has a statistically significant relationship with pre‐eclampsia. It seems that the serum vitamin D levels are low in Iranian women because of their particular lifestyle and they may need more than 400 IU day?1 vitamin D supplement during pregnancy.  相似文献   

4.
Previous studies have indicated the importance of allometric scaling of VO2max for body size. However, no information is available on adjusting maximal cardiac output (Q max) and stroke volume (SVmax) for body dimensions. The allometric exponent b was determined for the equation Y=aX b (where Y is the physiological outcome and X is the anthropometric variable) for VO2max, Q max, and SVmax relative to mass, height, and body surface area (BSA) in 24 premenarcheal girls (mean age 12.2 years) during cycle testing. Values for b were 1.08 and 1.05 for BSA relative to Q max and SVmax, approximating that of 1.0 using the traditional ratio standard (cardiac index and stroke index). Exponents of body mass relative to VO2max, Q max, and SVmax (0.55, 0.55, and 0.59, respectively) eliminated the effects of body size, but the ratio standard (M 1.0) did not. In this group of subjects, use of the ratio standard BSA was an appropriate means of adjusting maximal values of Q and SV for body size.  相似文献   

5.
In normal ontogenetic development, the expression of the sex‐determining region of the Y chromosome (SRY) gene, involved in the first step of male sex differentiation, is spatiotemporally regulated in an elaborate fashion. SRY is expressed in germ cells and Sertoli cells in adult testes. However, only few reports have focused on the expressions of SRY and the other sex‐determining genes in both the classical organ developing through these genes (gonad) and the peripheral tissue (skin) of adult XY females. In this study, we examined the gonadal tissue and fibroblasts of a 17‐year‐old woman suspected of having disorders of sexual differentiation by cytogenetic, histological, and molecular analyses. The patient was found to have the 46,X,inv(Y)(p11.2q11.2) karyotype and streak gonads with abnormally prolonged SRY expression. The sex‐determining gene expressions in the patient‐derived fibroblasts were significantly changed relative to those from a normal male. Further, the acetylated histone H3 levels in the SRY region were significantly high relative to those of the normal male. As SRY is epistatic in the sex‐determination pathway, the prolonged SRY expression possibly induced a destabilizing effect on the expressions of the downstream sex‐determining genes. Collectively, alterations in the sex‐determining gene expressions persisted in association with disorders of sexual differentiation not only in the streak gonads but also in the skin of the patient. The findings suggest that correct regulation of SRY expression is crucial for normal male sex differentiation, even if SRY is translated normally.  相似文献   

6.

Background

This study examined the trends for the serotypes of S. pneumoniae that have caused infections before (2010) and after (2012) the introduction of PCV‐7 in Japan.

Methods

We examined 458 strains of Streptococcus pneumoniae obtained from 22 pediatric institutions throughout Japan from January to June 2010 (immediately after the introduction of the seven‐valent pneumococcal conjugate vaccine [PCV‐7]), and 370 strains obtained from 19 institutions from January to June 2012 (after PCV‐7 became widely used). The samples were collected from children aged 0–14 years with conditions such as respiratory tract infections (upper airway inflammation, bronchitis, and pneumonia), meningitis, and sepsis.

Results

The most frequent serotype in the 2010 strains was 19F (17.3%), followed by 6B (16.8%), and 23F (15.1%). The most frequent serotype in the 2012 strains was 6C (10.0%), followed by 19F (9.7%), 15A (8.9%) and 15B (8.9%), indicating a significant change in the distribution. The serotypes contained in PCV‐7 were detected in 280 strains (61.1%) in 2010 and in 81 strains (21.9%) in 2012 (P < 0.01). The serotypes contained in PCV‐13 were detected in 356 strains (77.7%) in 2010 and in 146 strains (39.5%) in 2012 (P < 0.01). A total of 129 subjects who had not been vaccinated with PCV‐7 and 127 subjects who had been vaccinated with PCV‐7 at least once, were compared with regard to the 2012 strains. The serotypes contained in PCV‐7 were found in 21 strains (16.5%) in those who had been vaccinated and in 37 strains (28.7%) in those who had not been vaccinated (P < 0.05).

Conclusions

The increased use of PCV‐7 led to decreases in the serotypes contained in PCV‐13 and increases in the serotypes not contained in PCV‐13, suggesting serotype replacement.  相似文献   

7.
To prevent rickets, the Health Canada and the American Academy of Pediatrics recommend that breastfed infants receive a daily vitamin D supplement of 10 μg d?1. Compliance with this recommendation is variable and its effect on infant vitamin D status is unclear. We measured serum 25‐hydroxyvitamin D (25OHD) in Asian immigrant (n = 28) and White (n = 37) mothers and their infants aged 2–4 months living in Vancouver (49°N). Mothers completed health and demographic questionnaires. All subjects were term infants who were primarily breastfed. Analysis of variance, χ2, multiple regression and logistic regression analysis were performed as appropriate. Mean 25OHD of the infants was 31 (95% confidence interval 28–34) ng mL?1. Only two infants had a 25OHD concentration indicative of deficiency, <10 ng mL?1. Of the infants, 14% (n = 9) and 49% (n = 32) were vitamin D insufficient based on two commonly used cut‐offs of 20 and 30 ng mL?1, respectively. Fifty‐eight (89%) infants had been given a vitamin D supplement. Mean 25OHD was 9.4 ng mL?1 higher in infants consuming ≥10 μg d?1 of vitamin D from supplements vs. those consuming less (P = 0.003). Mother's 25OHD, season, skin colour or ethnicity (Asian vs. White) did not influence infant 25OHD. The infants in our study, most of whom received vitamin D supplements, were generally protected against low 25OHD. The study was limited by sample size and the nature of the cross‐sectional study design.  相似文献   

8.
Background: Body satisfaction interventions have typically been multifaceted and targeted at clinical populations. The aim of the present research was to isolate the effects of self‐affirmation on body satisfaction in a community sample and to see whether self‐affirmation works by basing one’s self‐esteem on domains other than body weight and shape. Methods: Adolescents (N = 220) were randomized to complete a self‐affirmation manipulation or an equivalently active control task before rating their body shape and weight, and completing measures of perceived threat, body satisfaction and self‐esteem. Results: Affirmed girls showed significantly greater body satisfaction and perceived significantly less threat from having to rate their body shape and weight compared with an equivalently active control group. Mediator analyses showed that the effects were due both to increases in self‐esteem and shifts away from using body shape and weight as a source of self‐esteem. Self‐affirmation did not affect boys because they: (a) were less threatened by having to rate their body shape and weight, and (b) principally derived their self‐esteem from sources other than body shape and weight. Conclusions: The findings provide support for the unique effects of self‐affirmation on girls’ body satisfaction thereby isolating one active ingredient of programs to increase body satisfaction and identify a potential mechanism for understanding self‐affirmation effects. Further research is required to establish the long‐term effects of self‐affirmation and test how self‐affirmation interacts with other active ingredients in treatment programs.  相似文献   

9.
Eiwegger T, Stahl B, Haidl P, Schmitt J, Boehm G, Dehlink E, Urbanek R, Szépfalusi Z. Prebiotic oligosaccharides: In vitro evidence for gastrointestinal epithelial transfer and immunomodulatory properties.
Pediatr Allergy Immunol 2010: 21: 1179–1188.
© 2010 John Wiley & Sons A/S Prebiotic oligosaccharides are present in breast milk and evidence is pointing toward immunomodulatory properties of the acidic fraction. Recently, prebiotic supplements of infant formula [short‐chain galacto (scGOS)‐, long‐chain fructo (lcFOS)‐oligosaccharides] showed preventive effects on atopic disease development. We aimed to define the direct immunologic effects of these oligosaccharides and of human (aHMOS) and cows’ milk (aCMOS) acidic oligosaccharides and to investigate the systemic uptake of prebiotic supplements of infant formula and a specific pectin‐derived acidic oligosaccharide hydrolysate (pAOS) in vitro. After assurance of LPS‐free conditions (limulus assay, toll like receptor‐2, ‐4 transfected human embryonic kidney‐cells), in vitro‐transfer through a CaCo‐2 cell monolayer was measured using high‐pH anion exchange chromatography with pulsed amperometric detection. Direct effects on proliferation, cytokine‐induction of cord blood mononuclear cells and modulation of allergen‐specific CD4+ T‐cell cytokine profiles from allergic and non‐allergic individuals were investigated. Transfer of scGOS/lcFOS and pAOS in‐vitro was detected with a rate of transfer of 4–14%, depending on the molecular size and structure. AHMOS induced IFN‐γ and IL‐10 but not the Th‐2 cytokine IL‐13 at physiologic concentrations (10–100 μg/ml) in cord blood, whereas aCMOS did not induce any of these cytokines. AHMOS significantly suppressed Th‐2 type cytokine‐production by Ara h1‐specific CD4+ T cells (CFSElow CD3+CD4+cells) from peanut allergic patients. In conclusion, human milk‐derived acidic oligosaccharides may modulate postnatal allergen‐specific immune responses by the suppression of Th‐2‐type responses in atopy‐prone individuals. Moreover, there is in vitro evidence for epithelial transport of prebiotic oligosaccharides.  相似文献   

10.
11.
Pregnancy during adolescence increases the risk of adverse pregnancy outcome, especially small‐for‐gestational‐age (SGA) birth, which has been linked to micronutrient deficiencies. Smoking has been shown to be related to lower micronutrient concentrations. Different ethnicities have not been examined. We used a subset from a prospective observational study, the About Teenage Eating study consisting of 126 pregnant adolescents (14–18‐year‐olds) between 28 and 32 weeks gestation. Micronutrient status was assessed by inductively coupled mass spectrometry. Smoking was assessed by self‐report and plasma cotinine, and SGA was defined as infants born <10th corrected birthweight centile. The main outcome measures were as follows: (1) maternal plasma selenium, copper and zinc concentrations in adolescent mothers giving birth to SGA vs. appropriate‐for‐gestational‐age (AGA) infants; and (2) comparison of micronutrient concentrations between women of different ethnicities and smoking habits. The plasma selenium {mean ± standard deviation (SD) [95% confidence interval (CI)]} concentration was lower in the SGA [n = 19: 49.4 ± 7.3 (CI: 45.9, 52.9) µg L?1] compared with the AGA [n = 107: 65.1 ± 12.5 (CI: 62.7, 67.5) µg L?1; P < 0.0001] group. Smoking mothers had a lower selenium concentration compared with non‐smokers (P = 0.01) and Afro‐Caribbean women had higher selenium concentrations compared with White Europeans (P = 0.02). Neither copper nor zinc concentrations varied between groups. Low plasma selenium concentration in adolescent mothers could contribute to the risk of delivering an SGA infant, possibly through lowering placental antioxidant defence, thus directly affecting fetal growth. Differences in plasma selenium between ethnicities may relate to variation in nutritional intake, requiring further investigation.  相似文献   

12.
Background: Seventeen cases of Acinetobacter baumannii infection in a neonatal intensive care unit (NICU) were evaluated. The strains were characterized as resistant to carbapenems. The aim of the present study was therefore to investigate the clinical and molecular epidemiological characteristics of the 17 carbapenem‐resistant A. baumannii strains. Methods: Samples were isolated from blood or sputum from the patients in the NICU, cultured using conventional techniques and an automated system. Multiplex polymerase chain reaction (PCR) was used to detect blaOXA‐51‐like, blaOXA‐23‐like, OXA‐24, OXA‐58 and Ambler class B carbapenemases. The genotype of the strains was identified on pulsed‐field gel electrophoresis (PFGE). Results: BlaOXA‐23 was detected in all of the isolates. PFGE genotype analysis suggested three clones among the 17 strains. Two clones were isolated from other wards of the hospital including the adult ICU and Department of Pulmonology. The other clone was proved to be the first appearance in the hospital as genotype analysis. Conclusion: BlaOXA‐23 was the drug‐resistant gene that made A. baumannii resistant to carbepenem. The source of blaOXA‐23 in the 17 isolates was different.  相似文献   

13.
A growing line of research has highlighted that e‐technologies may play a promising role in improving breastfeeding outcomes. The objective of this review was to synthesise the best of available evidence by conducting a meta‐analysis to evaluate whether e‐technologies have had any effect in improving breastfeeding outcomes among perinatal women. The review was conducted using nine electronic databases to search for English‐language research studies from 2007 to 2014. A ‘risk of bias’ table was used to assess methodological quality. Meta‐analysis was performed with the RevMan software. The Q test and I2 test was used to assess the heterogeneity. The test of overall effect was assessed using z‐statistics at P < 0.05. Of 1842 studies identified through electronic searches and reference lists, 16 experimental studies were selected after applying the inclusion and exclusion criteria. Half of the selected studies had a low risk of bias, from which a total of 5505 women in six countries in these studies were included. Meta‐analyses revealed that e‐technologies significantly improved exclusive breastfeeding initiation (z = 6.90, P < 0.00001), exclusive breastfeeding at 4 weeks (z = 2.12, P = 0.03) and 6 months (z = 3.2, P = 0.001), breastfeeding attitude (z = 3.01, P = 0.003) and breastfeeding knowledge (z = 4.54, P = < 0.00001) in subgroup analyses. This review provides support for the development of web‐based, texting messaging, compact disc read‐only memory, electronic prompts and interactive computer agent interventions for promoting and supporting breastfeeding.  相似文献   

14.
Published literatures report controversial results about the association of folic acid–containing multivitamins with gestational hypertension and pre‐eclampsia. A comprehensive search was performed to identify related prospective studies to assess the effect of folic acid fortification on gestational hypertension and pre‐eclampsia. The Q test and I2 statistic were used to examine between‐study heterogeneity. Fixed or random effects models were selected based on study heterogeneity. A funnel plot and modified Egger linear regression test were used to estimate publication bias. Eleven studies conformed to the criteria. Pooled results indicated that folic acid fortification alone was not associated with the occurrence of gestational hypertension [relative risk (RR) = 1.03, 95% confidence interval (CI): 0.98–1.09, P = 0.267] and pre‐eclampsia (RR = 0.99, 95% CI: 0.90–1.08, P = 0.738). However, supplementation of multivitamins containing folic acid could prevent gestational hypertension (RR = 0.57, 95% CI: 0.43–0.76, P < 0.001) and pre‐eclampsia (RR = 0.64, 95% CI: 0.48–0.84, P = 0.001). The difference between folic acid fortification alone and multivitamins containing folic acid was significant. This meta‐analysis suggests that periconceptional multivitamin supplementation with appropriate dose, not folic acid alone, is an appropriate recommendation for pregnant women. The effect should be further confirmed by conducting large‐scale randomised controlled trials.  相似文献   

15.
Raised T‐cell proliferation of cord blood mononuclear cells (CBMC) in response to various ingestant and inhalant allergens has been reported in newborns, suggesting a prenatal allergen contact. In general, for in vitro proliferation assays a concentration of 50 × 103 or 100 × 103 cells/well are used. The aim of this study was to analyze whether cell concentration influences T‐cell reactivity in cord blood cells and to study differences of T‐cell reactivity triggered by inhalant and ingestant allergens. CBMC from 51 neonates (34 females: 22 with and 29 without a family history of allergy, i.e. FH+ or FH–) were incubated with interleukin‐2 (IL‐2), β‐lactoglobulin (β‐LG), ovalbumin (OVA), house dust mite allergen Dermatophagoides pteronyssinus (Der p 1), and timothy grass allergen Phleum pratense (Phl p 1) for 7 days. The cell concentration ranged from 62.5 × 103 to 100 × 103 cells/well. Proliferation was assessed by incorporation of [3H]‐thymidine and was expressed as counts per minute (c.p.m.). In unstimulated cells, a decreasing cell concentration paralleled a steep drop of background activity. In response to IL‐2, a decreasing cell concentration led to a slow decrease of c.p.m. The corresponding mean stimulation indices (SI) were 9, 32, 77, 47, and 21 for 100 × 103, 50 × 103, 25 × 103, 12.5 × 103, and 62.5 × 103 cells/well, respectively. In addition, the highest number of positive proliferative responses to specific allergens were obscured at lower cell concentrations. For β‐LG, the maximal number of positive responses were obtained between 25 × 103 (n = 44) and 12.5 × 103 (n = 46) cells/well, for OVA at 25 × 103 (n = 3) cells/well, for Der p 1 at 50 × 103 (n = 5) cells/well, and for Phl p 1 between 25 × 103 and 12.5 × 103 (n = 5) cells/well. Positive proliferation in at least one of the tested assays was observed in 100% of samples in response to β‐LG, in 22% in response to Phl p 1, and in 14% in response to OVA and Der p 1. T‐cell reactivity did not differ between samples of newborns with or without a family history of atopy. Therefore, sensitivity of T‐cell proliferation measurement is highly influenced by background proliferation of unstimulated cells. Hence, proliferation assays with lower cell numbers unmask T‐cell reactivity in response to ingestant and inhalant allergens. We suggest the use of concentrations of 12.5 × 103–50 × 103 cells/well in proliferation experiments.  相似文献   

16.
The utility of non‐enhanced magnetic resonance imaging (MRI) has not been examined extensively for diagnosing acute pyelonephritis (APN) in children. The aims of this study were to compare non‐enhanced MRI with technetium‐99 m dimercaptosuccinic acid (99mTc‐DMSA) renal scintigraphy in detecting APN. Six boys and one girl with temperature ≥38°C and positive urine culture received both non‐enhanced MRI with whole body diffusion‐weighted imaging (DWI) and 99mTc‐DMSA scintigraphy ≤7 days from the fever onset. The sensitivity and specificity of MRI in detecting APN lesions diagnosed on 99mTc‐DMSA scintigraphy were 80% and 100%, respectively. Non‐enhanced MRI in children with suspected APN ≤7 days from fever onset might be a suitable replacement for 99mTc‐DMSA scintigraphy for the detection of APN.  相似文献   

17.
Neuroblastoma is unique amongst common pediatric cancers for its expression of the norepinephrine transporter (NET), enabling tumor‐selective imaging and therapy with radioactive analogues of norepinephrine. The majority of neuroblastoma tumors are avid for 123I‐metaiodobenzaguanidine (mIBG) on imaging, yet the therapeutic response to 131I‐mIBG is only 30% in clinical trials, and off‐target effects cause short‐ and long‐term morbidity. We review the contemporary understanding of the tumor‐selective uptake, retention, and efflux of meta‐iodobenzylguanidine (mIBG) and strategies currently in development for improving its efficacy. Combination treatment strategies aimed at enhancing NET are likely necessary to reach the full potential of 131I‐mIBG therapy. Pediatr Blood Cancer 2015;62:5–11 © 2014 The Authors. Pediatric Blood & Cancer published by Wiley Periodicals, Inc.
  相似文献   

18.
Background: Recently, first evidence has been reported for a gene–parenting interaction (G × E) with regard to adolescent alcohol use. The present investigation set out to extend this research using the catechol‐O‐methyltransferase (COMT) Val158Met polymorphism as a genetic susceptibility factor. Moreover, the current study examined whether a potential G×E would be consistent with one of two models of gene–environment interplay (genetic vulnerability vs. differential susceptibility). Methods: Data were collected as part of an ongoing epidemiological cohort study following the outcome of early risk factors from birth into adulthood. Two hundred and eighty‐five participants (130 males, 155 females) were genotyped for the COMT Val158Met polymorphism and were administered an alcohol interview, providing measures of current frequency and amount of drinking at ages 15 and 19 years. Information on three dimensions of perceived parenting behavior was obtained from the 15‐year‐olds. Results: Adolescents homozygous for the Met allele showed higher drinking activity at age 19 years when their parents had engaged in less supervision or were less involved, while their drinking activity was reduced under conditions of favorable parenting. No such relationship was found in individuals carrying the Val allele. Conclusions: The present findings correspond with the pattern of results predicted by the differential susceptibility hypothesis, suggesting that environmental variation would have a greater impact in individuals carrying a genetic susceptibility such that, in this group, exposure to negative environmental conditions would result in more adverse outcomes and the experience of favorable conditions would lead to more positive outcomes.  相似文献   

19.
Aim: To inform that Actinobaculum schaalii can colonize the urine and cause urinary tract infection in children. Methods: Urine samples were examined by wet smear microscopy, incubated in 5% CO2 for 1–2 days, and species‐specific real‐time polymerase chain reaction (PCR) for A. schaalii was performed. Results: In 5 of the 29 screened urines, A. schaalii was found only by real‐time PCR in quantities equivalent to ≥104–105 CFU/mL. In addition, A. schaalii was found in quantities equivalent to ≥106 CFU/mL by both culture and PCR in two children with a urinary tract infection and large numbers of leucocytes in the urine. Conclusion: Actinobaculum schaalii is CO2‐dependent. Therefore, if there are clinical symptoms and/or a negative culture despite the presence of leucocytes in the urine, Gram staining and incubation in 5% CO2 or species‐specific real‐time PCR should be performed to identify A. schaalii.  相似文献   

20.
The effect of pethidine as patient‐controlled epidural analgesia (PCEA) on specific biochemical components in breast milk in relation to the timing of secretory activation is not well investigated. The aim of this study was to compare biochemical timing of secretory activation between women who had a vaginal (V) or Caesarean birth with pethidine‐PCEA (CBP). Several milk samples were collected daily from 36 mothers (17 V, 19 CBP) for the first 265 h post‐partum. Protein and lactose concentrations and Na+ and K+ ion levels were measured. Samples were assigned to three time periods: 0–72, >72–165 and >165–265 h post‐partum for statistical analyses. Data were analyzed using linear mixed effect models. In the first 72 h post‐partum, the mean difference in lactose concentration was 5 gL?1 higher in group V (P < 0.05). From >72–165 h post‐partum, protein and Na+ concentrations were lower in group V (P = 0.05, P = 0.02), and K+ levels were higher in group V (P < 0.001). From >165–265 h post‐partum, there were no significant differences between the groups. Biochemically, secretory activation had occurred by 72 h post‐partum in both groups. There were greater variations in measured biochemical components observed within group CBP initially. However, by 165 h post‐partum, there were no differences in the biochemical components between the groups. This suggests that effects of pethidine‐PCEA are diminished by 72 h post‐partum and undetected by 165 h.  相似文献   

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