首页 | 本学科首页   官方微博 | 高级检索  
相似文献
 共查询到20条相似文献,搜索用时 15 毫秒
1.
AIMS—To examine the age of onset of insulin dependent diabetes mellitus (IDDM) in children with Down''s syndrome compared with non-trisomic individuals, and to assess whether differences might be related to disomic homozygosity at the autoimmune polyglandular disease type 1 (APECED) gene locus.
METHODS—Children with Down''s syndrome and IDDM were identified through the Down''s syndrome association newsletter and from paediatricians. DNA was extracted from mouthbrush preparations provided by the parents and patients using standard techniques. Mapping techniques were then used to identify areas of reduction to homozygosity, including a marker that overlaps the locus for APECED. The frequency of disomic homozygosity for all markers (n = 18) was compared with a control group of 99 patients with Down''s syndrome and their parents. The families also answered a questionnaire concerning diabetes and related autoimmune conditions in the family. Details were compared with the British Paediatric Surveillance Group 1988diabetes study.
RESULTS—Children with Down''s syndrome and IDDM were diagnosed significantly earlier than the general population (6.7 v 8.0 years) with a far higher proportion diagnosed in the first 2 years of life (22% v 7%). There was no evidence of increased disomic homozygosity in the region of the APECED locus in Down''s syndrome patients with IDDM compared with simple Down''s syndrome.
CONCLUSIONS—The natural history of IDDM in Down''s syndrome is different from that of the general population. Although children with Down''s syndrome have features similar to cases of APECED, disomic homozygosity in this region does not explain the predilection for autoimmune disease.

  相似文献   

2.

Background

Infants are considered large for gestational age (LGA) if their birth weight is greater than the 90th percentile for gestational age and they have an increased risk for adverse perinatal outcomes. Maternal diabetes is one of the factors affecting birthweight. However there are limited data on the perinatal outcomes of infants of gestational diabetic mothers. The aim of the present study was to compare the neonatal outcomes of LGA infants delivered by women with and without gestational diabetes mellitus.

Methods

This was a retrospective study of LGA infants of ??36 weeks of gestation born at the Gazi University Medical School Hospital during the period of 2006?C2009. Neonatal outcomes included hypoglycemia and polycythemia in the early neonatal period and hospital admissions. The Chi-square and Student??s t test were used for comparing variables.

Results

Seven hundred eligible infant-mother pairs were enrolled in the study. Eighty-seven of them (12.4%) were infants of gestational diabetic mothers and 613 (87.6%) were infants of non-diabetic mothers. The incidence of hypoglycemia at the first hour was higher in infants of diabetic mothers (12.8%) than in infants of non-diabetic mothers (5.3%) (P=0.014). Polycythemia was also more frequently observed in infants of the gestational diabetic mothers (9.3%) than in infants of the non-diabetic mothers (3.0%) (P=0.010). Although overall hospital admission rates were not different between the two groups, infants of diabetic mothers were more likely to be admitted because of resistant hypoglycemia (P=0.045).

Conclusions

The results of this study suggested that LGA infants of mothers with gestational diabetes mellitus were at a greater risk for hypoglycemia and polycythemia in the early neonatal period than LGA infants of nondiabetic mothers.  相似文献   

3.
BACKGROUND—The prevalence of thyroid disease is increased in Down''s syndrome. Most available data come from cross sectional studies.
AIMS—To study longitudinally thyroid function in patients with Down''s syndrome in Uppsala county (85 patients) up to the age of 25years.
METHODS—Observational study based on yearly follow up in a children''s clinic. Thyroid function tests were performed at each visit to the clinic.
RESULTS—Hypothyroidism was found in 30 and hyperthyroidism was found in two of the 85 patients. No sex difference was seen. Half of the patients with hypothyroidism acquired the condition before the age of 8 years, but only one of them displayed thyroid autoantibodies at diagnosis. Most patients who developed hypothyroidism after this age had thyroid autoantibodies. In the prepubertal patients with hypothyroidism, growth velocity was lower during the year before the start of thyroxine treatment than during the year after treatment began; it was also lower than that of sex and age matched euthyroidic children with Down''s syndrome.
CONCLUSION—Thyroid dysfunction in patients with Down''s syndrome is common in childhood. Consequently, annual screening is important. Autoimmune thyroid disease is uncommon in young children with Down''s syndrome but is common after 8 years of age.

  相似文献   

4.
OBJECTIVES—To describe the evaluation, decision making, and care of children with a complete atrioventricular septal defect (CAVSD).
STUDY DESIGN—Retrospective study of 136 consecutive cases from 1970 to 1996.
RESULTS—A total of 115 (85%) children had Down''s syndrome. Denial of surgery without obvious medical reasons was more common in the early years, as was parental refusal of offered surgery and institutional care of the children. Improved results in later years encouraged surgical treatment for all these patients, but more liberal attitudes towards patients with Down''s syndrome preceded the improved results. The use of echocardiography as a screening method for all newborns with Down''s syndrome made it possible to plan for correction within the 1st months of life.
CONCLUSIONS—Changing attitudes in society and widespread use of echocardiography have significantly improved the management of children with a CAVSD and Down''s syndrome.
  相似文献   

5.
BACKGROUND—Learning disability and short stature are cardinal signs of Down''s syndrome. Insulin-like growth factor I (IGF-I), regulated by growth hormone (GH) from about 6 months of age, may be involved in brain development.
AIMS—To study long term effects of GH on linear growth and psychomotor development in young children with Down''s syndrome.
Study design—Fifteen children with Down''s syndrome were treated with GH for three years from the age of 6 to 9 months (mean, 7.4). Linear growth, psychomotor development, skeletal maturation, serum concentrations of IGF-I and its binding proteins (BPs), and cerebrospinal fluid (CSF) concentrations of IGF-II were studied.
RESULTS—The mean height of the study group increased from −1.8 to −0.8 SDS (Swedish standard) during treatment, whereas that of a Down''s syndrome control group fell from −1.7 to −2.2 SDS. Growth velocity declined after treatment stopped. Head growth did not accelerate during treatment. No significant difference in mental or gross motor development was found. The low concentrations of serum IGF-I and IGFBP-3 became normal during GH treatment.
CONCLUSIONS—GH treatment results in normal growth velocity in Down''s syndrome but does not affect head circumference or mental or gross motor development. Growth velocity declines after treatment stops.

  相似文献   

6.
Ponderal index (PI) is a weight-height related parameter that is mainly used to assess the pattern of fetal growth in small-for-gestational age infants. We aimed to use PI for large-for-gestational age (LGA) infants who were born to diabetic or non-diabetic mothers, in order to predict the fetal growth pattern. One hundred sixty-six LGA infants born at the Department of Obstetrics, Hacettepe University Hospital, Ankara, Turkey were included in the study. The PI was calculated by using the following formula: PI = weight (g) x 100/(height, cm)3. Sixty-seven (40%) of these infants were born to diabetic mothers. Maternal age, maternal weight and maternal weight gain during pregnancy were similar in the diabetic and non-diabetic groups. Mean birthweight, height and head circumference were similar in both groups, but median PI of infants of diabetic mothers was significantly higher than of infants of non-diabetic mothers (3.02 and 2.89, respectively, p < 0.05). Fetal growth was different between LGA infants of diabetic and non-diabetic mothers, and PI provided useful information on the proportionality of fetal growth in LGA infants.  相似文献   

7.
In a prospective study infants born to mothers with epilepsy (n = 61) were found to have an unexpectedly high incidence of congenital anomalies (26/61, 43%) and neonatal conditions (26/61, 43%) compared with controls (0/62, and 6/62, 10%, respectively). There were two neonatal deaths in the study group but none among the controls. Hypoplasia of the finger or toenails was a common congenital anomaly in those infants whose mothers had received phenytoin alone or in combination with other anticonvulsant drugs (11 of 40, 28%). The mean serum phenytoin concentration was higher among mothers of infants with hypoplastic nails than among those with normal nails. Jitteriness was a common neonatal condition affecting infants of epileptic mothers (11 of 61, 18%) but not controls The mean cord serum phenytoin concentrations were similar among jittery and non-jittery infants. At follow up (after excluding one infant with Down''s syndrome from the study group) the infants seemed to have developed normally, though one had serious learning difficulties at school. We suggest that hypoplasia of the nails is related to high maternal serum concentrations of phenytoin, and though 18% of infants born to epileptic mothers were jittery compared with no control infants this may not be the result of withdrawal of the drug in all cases.  相似文献   

8.

Objective

Intensified management of gestational diabetes mellitus can normalize birth weight. However, it is still unknown whether intrauterine exposure to maternal diabetes is a risk factor for changing hormone levels involved in the development of insulin resistance in these infants. We compared insulin and leptin levels in appropriate for gestational age (AGA) infants of diabetic and non diabetic mothers.

Methods

We performed a cross-sectional study in the department of Neonatology of the Hospital of Gynecology-Pediatrics, in Leon, Mexico. We evaluated 182 full term AGA newborns (86 infants of diabetic and 96 of non-diabetic mothers). A venous blood sample was taken from cord blood immediately after the separation of the placenta and glucose, insulin and leptin levels were measured. In all diabetic mothers HbA1c was also evaluated immediately post-partum.

Findings

Leptin, insulin and insulin resistance index were significantly higher in infants of diabetic mothers. Leptin levels were positive correlated with insulin, parents‘ body mass index and age in the entire group. In infants of diabetic mothers only insulin levels showed a significantly correlation, whereas in those of non-diabetic mothers only mothers‘ age was significantly correlated with leptin levels.

Conclusion

AGA infants of diabetic mothers showed higher leptin, insulin levels and insulin resistance index than those of non-diabetic mothers.  相似文献   

9.
Among 10,412 livebom infants surveyed in a large maternity hospital in a 2-year period, there were 13 cases (0.13%) of discrepancy between sex phenotype and sex chromatin (0.15% among male infants and 0.10% among female infants). There were 22 cases of trisomy-21 (incidence 0.21%), 3 cases of trisomy-18, and 1 case of trisomy-13-15. 9 cases presented multiple congenital abnormalities but the karyotype was normal.Only the incidence of cases with Down''s syndrome is higher than that reported in the literature. Maternal and paternal age, seasonal clustering, infectious diseases before or at the beginning of pregnancy, and x-ray exposure of parents, showed no correlation with Down''s syndrome. Among the cases of Down''s syndrome there was a significantly higher maternal and paternal mean age and a maternal history of infectious hepatitis was more frequent.  相似文献   

10.
AIM—To determine the outcome of preterm infants born to mothers with hypertension during pregnancy, and preterm controls.
METHODS—107 infants of 24-32 weeks gestation, born to hypertensive mothers, and 107 controls matched for gestational age, sex, and multiple pregnancy, born to normotensive mothers, were prospectively enrolled over 2 years. Information on maternal complications and medication was obtained and neonatal mortality and morbidities recorded. Survivors were followed up to at least 2 years, corrected for prematurity.
RESULTS—One third of the hypertensive mothers were treated with antihypertensive drugs, while 18% received convulsion prophylaxis with phenytoin. Magnesium sulphate was not prescribed. Both groups had a mean gestational age of 29.9 weeks, with the study infants having a significantly lower birthweight than the controls. Four study and three control infants died in the neonatal period. Cerebral palsy was not diagnosed in any infant of a hypertensive mother compared with five of the controls. The mean general quotient for the two groups was very similar and no difference in the incidence of minor neuromotor developmental problems was shown.
CONCLUSIONS—Maternal hypertension seems to protect against cerebral palsy in preterm infants without increasing the risk of cognitive impairment. This was independent of the use of maternally administered magnesium sulphate.

  相似文献   

11.
ABSTRACT. Davidsen, Otto (Diabetes Centre, Royal Maternity Department B, Rigshospitalet and Department of Clinical Chemistry, Sundby Hospital, Copenhagen, Denmark) Immunoelectrophoretic Determination of Serum Globulins in Newborn Infants of Diabetic Mothers. Acta Paediatr Scand, 63: 833, 1974.—Serum globulins were investigated by means of crossed immunoelectrophoresis in the cord blood from 40 infants of diabetic mothers and 92 infants with non-diabetic mothers. In infants of non-diabetic mothers the concentration of most globulins was lower than in adults and positively correlated to the gestational age of the infant. For α2-HS-glycoprotein and an unidentified α2-glob-uEn, however, a negative correlation to the gestational age was observed. Infants of diabetic mothers had a higher Concentration of transferrin and lower concentrations of α2-macroglohulin and α1-lipoprotein as compared with infants of the reference group. In the diabetes group the globulin concentrations were correlated neither to the gestational age nor to their increased birth weight, but the ratio α2,-macroglobulin/α2-HS-glycoprotein, which was expected to be independent of variations in the degree of hydremia of the infants, was significantly correlated to the gestational age. As judged from this parameter, infants of diabetic mothers are comparable to infants of non-diabetic mothers of about 4 weeks lower gestational age.  相似文献   

12.
We prospectively evaluated the intellectual development of 33 children who were born to 33 diabetic Japanese mothers and compared them to 34 children born to non-diabetic mothers (controls) during the same period at Kurume University Hospital between 1987 and 1989. Birthweight, maternal age and the infant's age at the time of intelligence testing did not differ significantly between the offspring of diabetic mothers (ODMs) and controls. Tanaka-Binet intelligence scores were significantly lower in the ODMs at 3 years of age than in controls (98.4 ± 17.4 versus 113.4 ± 15.3) (p = 0.0005). No correlation was found between IQ and maternal haemoglobin A1c levels during pregnancy. Maternal age and infant IQ were inversely correlated in ODMs (p = 0.0298, r = ?0.3984), but no such correlation was demonstrated in the controls. The results indicated that the ODMs may show a poorer intellectual development than those of non-diabetic mothers.  相似文献   

13.
The syndrome of hemolysis, elevated liver enzymes and low platelet count (HELLP syndrome) is a severe form of preeclampsia and eclampsia. To compare the impact of HELLP syndrome and hypertension in pregnancy (HIP) on neonatal morbidity and mortality, 11 infants born to mothers with HELLP syndrome were recruited between 1993 and 1997 from neonatal records. They were compared to 11 infants born to mothers with HIP and 11 control infants born to healthy mothers matched for gestational age, postnatal age and gender. Cesarean section rate was higher in the HELLP group than in the controls (p < 0.05). HELLP group infants had lower Apgar scores (54.5% < 1 at 5th min), than controls (9.1%) (p < 0.05). Both HELLP and HIP group infants showed a higher incidence of intrauterine growth retardation (63.6% and 54.5%, respectively) than the controls (9.1%) (p < 0.05). The incidence of respiratory distress syndrome (RDS) was similar in HELLP and HIP groups and was greater than that in controls (p = NS). Additionally, the neonatal death rate was the highest in the HELLP group (p = NS).  相似文献   

14.
Leptin and metabolic hormones in infants of diabetic mothers   总被引:5,自引:0,他引:5  
AIMS: To investigate the effect of maternal diabetes on leptin in term newborns and to determine whether leptin correlates with insulin and its associated biochemical parameters in support of the hypothesis that a functional "adipoinsular axis" might exist at this stage of development. METHODS: A total of 116 term newborns were prospectively enrolled and categorised into three groups: 44 were infants of non-diabetic mothers (control group C); 41 were infants born to mothers with gestational diabetes on dietary treatment (group D); and 31 were infants born to mothers with gestational or pregestational diabetes on insulin treatment (group I). RESULTS: No significant difference in serum leptin was observed between the three groups; the results of the study population were therefore pooled and analysed. Serum leptin correlated significantly with serum insulin, insulin:glucose ratio, birth weight, body length, body mass index, placenta weight, and maternal HbA(1c). Female infants had significantly higher serum leptin than male infants. All parameters except placenta weight and body length remained significantly associated with serum leptin when multivariate stepwise regression analysis was applied. Subgroup analysis revealed a significant correlation between serum leptin and cortisol in group D. CONCLUSIONS: There was no significant difference in serum leptin between infants born to diabetic and non-diabetic mothers, though infants born to mothers requiring insulin treatment had the highest median serum leptin concentrations. The significant association between serum leptin and insulin or insulin:glucose ratio supports the hypothesis that a functional adipoinsular axis might exist in term newborns. Furthermore, the significant correlation between maternal HbA(1c) and circulating leptin of the studied infants suggests that the clinical control of maternal diabetes could affect the regulation of serum leptin in these infants.  相似文献   

15.
It has been well known that there is a high incidence of congenital malformations in newborns from diabetic mothers when the mothers' diabetes control before and during pregnancy is poor. We treated 438 pregnant diabetics who bore 443 children between February 1964 and June 1992. Among these children, there were 51 cases (11.5%) with congenital malformations, 21 cases with major anomalies (4.7%) and 30 cases with minor anomalies (6.8%). The type of malformations are not related to special organs; heart malformations and cleft lips are relatively frequent compared to other types of malformations. The mechanism of the congenital malformations in newborns from diabetic mothers remains unclear. However, clinically and experimentally it has been found to be due to fuel-mediated teratogenesis. Since October 1978, HbAi has been used as an index of diabetic control and the relationship between congenital malformations and the mother's diabetes control has been observed. 1) There is no difference in the incidence of malformations in children from IDDM and NIDDM mothers. However, there are more severe malformations in the children from IDDM mothers compared to those from NIDDM mothers. 2) Mothers who bore children with major malformations had all made their first visit to our hospital after pregnancy. HbAi in the IDDM mothers who had children with malformations at the first visit was 11%. 3) In the NIDDM mothers, even if HbAi levels are near normal, children with major malformations were born and there was little relationship between congenital malformations and the mothers' diabetes control. These data suggest that there are two kinds of congenital malformations in children from diabetic mothers, fuel-mediated teratogenesis, and malformations as seen in children from non-diabetic mothers.  相似文献   

16.
Two families are reported in which Down's syndrome was transmitted through phenotypi-cally normal mosaic mothers. In the first family the mother had normal/G-trisomy mosaic, and on two successive pregnancies at the age of 22 and 24 years she gave birth to two sibs with regular G2i-trisomy and Down's syndrome. In the other family the mother had a mosaic of normal and balanced D/G21 translocation cells, and at the age of 32 years she gave birth to a child with D/G2t translocation trisomy and Down's syndrome. Mosaic mothers carry a considerable risk of having children with Down's syndrome. Exact prediction of the risk cannot be given since the extent of gonadal involvement in the mosaicism is unknown.  相似文献   

17.
Erythrocyte indicators of oxidative stress in gestational diabetes   总被引:1,自引:0,他引:1  
Foetuses born to mothers with gestational diabetes are at increased risk of developing respiratory distress, foetal macrosomia, foetal anomalies and platelet hyperaggregability. High blood glucose level induces oxidative stress and decreases antioxidant defences. The present study discusses the possibility of lipid peroxidation and protein oxidation in both maternal and foetal erythrocytes as an indicator of oxygen radical activity. The level of lipid peroxidation and protein oxidation in erythrocytes was estimated in 20 mothers with gestational diabetes and their newborns. The maternal age varied between 19 and 42 y and foetal age ranged between 34 and 39 weeks. The proteolytic activities in the erythrocyte lysates obtained from mothers with gestational diabetes and their newborns were significantly greater [(mean ± SD) 24.41 ± 9.05 and 16.70 ± 3.36μM of amino groups/g haemoglobin, n = 20, respectively] than those from control group (10.18 ± 4.84 and 14.64 ± 6.21 μM amino groups/g haemoglobin, n = 15, respectively; p < 0:05 in both cases). Similarly erythrocyte malondialdehyde levels were significantly elevated in babies born to mothers with gestational diabetes (10.11 ±2.21 nM/g haemoglobin) when compared to controls (6.8 ± 3.75 nM/g haemoglobin) (p < 0:05). In the erythrocytes of mothers with gestational diabetes, malondialdehyde levels correlated significantly with glycated haemoglobin levels (p < 0:01). The results of this study indicate that the oxidative stress induced by gestational diabetes manifests as increased lipid peroxidation and protein oxidative damage in the erythrocytes of both mothers with gestational diabetes and their newborn infants.  相似文献   

18.
OBJECTIVE—To review the clinical features, treatment, and outcome of children in the UK with Down''s syndrome and acute myeloid leukaemia (AML).DESIGN—A retrospective study of 59 children with Down''s syndrome and AML presenting between 1987 and 1995. Data were obtained from hospital case notes, trial records, and by questionnaire.RESULTS—The patients were unusually young (median age, 23 months) with a predominance of megakaryoblastic AML. Two of the seven infants who presented with abnormal myelopoesis aged 2 months or younger achieved complete spontaneous remission. Most of the older children with AML (32 of 52) were treated on recognised intensive protocols but 13 received individualised treatment and seven symptomatic treatment alone. Only four received a bone marrow transplant (BMT) in first remission. For the 45 older children who received chemotherapy the overall survival was 55% (median follow up 4.5 years). Patients on individualised protocols had a similar overall survival and toxic death rate but marginally higher relapse rate than those on standard (intensive) protocols. Children with Down''s syndrome treated on the national AML 10 trial had a similar overall survival (70% v 59%) at five years to children of comparable age without Down''s syndrome: their improved relapse risk (12% v 38%) offset the slight increase in deaths as a result of treatment toxicity (19% v 11%).CONCLUSION—Neonates with Down''s syndrome and abnormal myelopoesis may achieve spontaneous remission, and older children with Down''s syndrome and AML can be treated successfully with intensive chemotherapy, without BMT.  相似文献   

19.
OBJECTIVE—To assess the growth curves of uninfected infants born to type 1 human immunodeficiency virus (HIV-1) seropositive mothers by means of standardised anthropometric indices.
METHODS—The z scores (National Center for Health Statistics-World Health Organisation data) of weight for age, length for age, and weight for length of 92 uninfected full term infants born to HIV positive mothers were compared with those of 65 bottle fed full term infants born to healthy mothers at 0, 1, 2, 3, 4, 6, 9, 12,18, and (in a subgroup) 24 months of age. Confounders were also recorded.
RESULTS—The study population had a lower length for age z score at birth (95% confidence intervals (CI): 0.02, −0.58) and higher weight for length z scores at 1 (95% CI: 0.21, 0.63), 2 (95% CI: 0.25,0.66), and 3 (95% CI: 0.0, 0.48) months compared with the reference group. After a temporary recovery, the length for age z score difference increased progressively from the 4th month onwards and was significant at 18 (95% CI: −0.31, −1.05) and 24 (95% CI: −0.02, −0.91) months. The difference between the length for age z scores at birth was associated with maternal covariates, but the between group difference at 18 months was apparent even after adjustment for covariates.
CONCLUSION—Uninfected infants born to HIV positive mothers have a rapid weight gain immediately after birth. A decrease in length progression during the second year might be a result of the social risk connected with the family environment and an unfavourable programming related to the maternal HIV status.

  相似文献   

20.
This study compares NT proBNP and troponin T levels in umbilical cord arterial blood and postnatal echocardiographic findings for infants of gestational and pregestational diabetic mothers and macrosomic infants. Twenty-seven infants of pregestational diabetic mothers, 61 infants of gestational diabetic mothers and 37 macrosomic infants of nondiabetic mothers were prospectively enrolled in this study along with a control group of 58 healthy infants of mothers without any pregestational or gestational disorders as the control group. All enrollees were born after 34 weeks of gestation. For this study, umbilical cord blood was drawn during delivery to determine NT proBNP and troponin T levels. Echocardiography was performed 24–72 h after the delivery. Umbilical cord troponin T and NT proBNP levels were found to be higher in the diabetic and macrosomic groups than in the control group (all of them p < 0.001). NT proBNP levels were positively correlated with interventricular septum thickness in the pregestational and gestational infants of diabetic mothers groups (r = 0.564 and r = 0.560, respectively, p < 0.01). Both pregestational and gestational diabetic mothers were divided into two groups according to HbA1c levels in the third trimester as good (<6.1 %) and suboptimal (>6.1 %) metabolic control. In the good and suboptimal metabolic control diabetic groups, NT proBNP levels were also positively correlated with interventricular septum thickness (r = 0.536 and r = 0.576, respectively, p < 0.01). In the suboptimal metabolic control diabetic group, NT proBNP was only found to be positively correlated with the left ventricular mass index (r = 0.586, p < 0.01). While there was no correlation in the myocardial performance index between infants of diabetic mothers and the control group, the myocardial performance index of macrosomic infants was lower than that of the control group (p = 0.017). Cardiac biomarkers (NT proBNP and troponin T) were elevated in infants of diabetic mothers and macrosomic infants. While there was a positive correlation between NT proBNP levels and cardiac structure in infants of pregestational and gestational diabetic mothers, there was no relationship between NT proBNP levels and cardiac function.  相似文献   

设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号