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Sample records for maternal pku syndrome

  1. Maternal phenylketonuria: Embryotoxicity in vitro of PKU-related metabolites and of human PKU-sera

    NARCIS (Netherlands)

    Piersma AH; Verhoef A; Hamers AM; van den Ham WA; Jansen EHJM

    1993-01-01

    Mothers with untreated phenylketonuria (PKU) have an increased risk of bearing children with congenital malformations. PKU causes accumulation of phenylalanine (PHE) and its metabolites in urine and blood, and this condition may contribute to the developmental problems. In the present study we

  2. Phenylalanine hydroxylase gene mutations in the United States: Report from the maternal PKU collaborative study

    Energy Technology Data Exchange (ETDEWEB)

    Guldberg, P.; Henriksen, K.F.; Guettler, F. [John F. Kennedy Inst., Glostrup (Denmark)] [and others

    1996-07-01

    The major cause of hyperphenylalaninemia is mutations in the gene encoding phenylalanine hydroxylase (PAH). The known mutations have been identified primarily in European patients. The purpose of this study was to determine the spectrum of mutations responsible for PAH deficiency in the United States. One hundred forty-nine patients enrolled in the Maternal PKU Collaborative Study were subjects for clinical and molecular investigations. PAH gene mutations associated with phenylketonuria (PKU) or mild hyperphenylalaninemia (MHP) were identified on 279 of 294 independent mutant chromosomes, a diagnostic efficiency of 95%. The spectrum is composed of 71 different mutations, including 47 missense mutations, 11 splice mutations, 5 nonsense mutations, and 8 microdeletions. Sixteen previously unreported mutations were identified. Among the novel mutations, five were found in patients with MHP, and the remainder were found in patients with PKU. The most common mutations were R408W, IVS12nt1g{r_arrow}a, and Y414C, accounting for 18.7%, 7.8% and 5.4% of the mutant chromosomes, respectively. Thirteen mutations had relative frequencies of 1%-5%, and 55 mutations each had frequencies {le}1%. The mutational spectrum corresponded to that observed for the European ancestry of the U.S. population. To evaluate the extent of allelic variation at the PAH locus within the United States in comparison with other populations, we used allele frequencies to calculate the homozygosity for 11 populations where >90% ascertainment has been obtained. The United States was shown to contain one of the most heterogeneous populations, with homozygosity values similar to Sicily and ethnically mixed sample populations in Europe. The extent of allelic heterogeneity must be a major determining factor in the choice of mutation-detection methodology for molecular diagnosis in PAH deficiency. 47 refs., 1 fig., 5 tabs.

  3. PKU Self-Management Timeline

    Science.gov (United States)

    ... about pku UW PKU Clinic News & Events PKU Self-Management Timeline This timeline is also available as an ... Acrobat file. Click here to download. The PKU Self- Management timeline is included to provide long-term view ...

  4. The Effect of Medicinal Education on Adherence Taking Warfarin in Acute Coronary Syndrome (ACS and Atrial Fibrilation (AF Patients at PKU Muhammadiyah Yogyakarta Hospital

    Directory of Open Access Journals (Sweden)

    Jastria Pusmarani

    2015-12-01

    Full Text Available In order to improve warfarin medication adherence in patient with Acute Coronary Syndrome (ACS and Atrial Fibrillation (AF, giving education with leaflet administration is one of the solutions. This study was aim to know the impact of pharmacist education with using prepared leaflet on the adherence to warfarin in ACS and AF patients. This study used pre test and post test with control group design. Data were collected prospectively during 8 weeks in June–July 2014 at the ambulatory ACS and AF patients at PKU Muhammadiyah Yogyakarta hospital, Indonesia. Data were collected by medical record and the questionnaire using Morisky Medication Adherence Scale (MMAS. Wilcoxon test was used for statistical analysis. The results shows pre test and post test value in the control group was p=0.194 and pre and post test value in the test group was p=0.058. There was no significant difference (p>0.05 after giving education with leaflet. The education with leaflet had no effect to adherence in warfarin in ACS and AF patients at PKU Muhammadiyah Yogyakarta hospital.

  5. Maternal irradiation and Down Syndrome

    International Nuclear Information System (INIS)

    Gibson, D.L.; Uh, S.H.; Miller, J.R.

    1978-04-01

    The role of preconception irradiation in the etiology of Down Syndrome was examined using the techniques of record linkage. Although 909 cases of Down Syndrome, born in B.C. between 1952-70, were ascertained through a system of linked vital and health registrations, interest was restricted to the 348 case/control pairs born in the greater Vancouver area. The maternal identifying information routinely recorded on birth and ill-health registrations was used to link 155 Down Syndrome mothers and 116 control mothers to patient files at the Vancouver General Hospital. Only 28 of the case and 25 of the control mothers were subjected to diagnostic irradiation at the Vancouver Ganeral Hospital. The difference was not significant at the 5% level

  6. NUTRITIONAL KNOWLEDGE IN PHENYLKETONURIA (PKU

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    Beatriz D. O. MIRANDA DA CRUZ

    2009-07-01

    Full Text Available

    ABSTRACT: A review of phenylketonuria (PKU an autosomal recessive genetic desorder discovered and described in 1934 is presented and discussed. Excess phenylalanine is transamined and its presence or metabolites may cause brain damage. Hydroxylation is the most important determinant of phenylalanine homeostasis in humans. It has been shown a great geographic and ethnic variation in the presence of PKU. Neonatal screening is the main method to detect babies with this desorder. Restriction of phenylalanine intake is the most effective PKU treatment. There are several well balanced commercial formulas low in this amino acid. They should be introduced as soon as the positive PKU test is confirmed and be kept for a long time. Present knowledge allows the possibility of pregnancy of PKU girls, under dietary control. Alternative treatments have been proposed for PKU and great advance has lately been achieved on the genetic and nutricional aspects of the disease. KEYWORDS: Phenylketonuria; children; phenylalanine, nutrition PKU.

  7. Alternative Therapies for PKU

    Directory of Open Access Journals (Sweden)

    Norma Spécola MD

    2017-01-01

    Full Text Available The phenylalanine (PHE-restricted diet has improved in quality and diversity over time and has proven to be effective in all patients. Nevertheless, this treatment imposes a heavy social and economic burden to patient and family and impacts quality of life. Sustained adherence to PHE restriction is difficult to maintain. Moreover, even patients with phenylketonuria (PKU with normal intelligence quotient (IQ have lower IQ than matched individuals without PKU and can have deficits in multiple other aspects of neuropsychological function, including cognitive and executive function, working memory. They can also have behavior problems, depression, and low self-esteem. In recent years, alternative treatments for PKU have been developed and their use has been indicated for some patients who are candidates for options besides traditional treatment. Sapropterindihydrochloride, large neutral amino acids, and glycomacropeptide are alternative treatment options in use for selected patients. The aim of this article is to review the current knowledge of these new approaches to PKU treatment.

  8. Muscle-directed gene therapy for phenylketonuria (PKU): Development of transgenic mice with muscle-specific phenylalanine hydroxylase expression

    Energy Technology Data Exchange (ETDEWEB)

    Harding, C.O.; Messing, A.; Wolff, J.A. [Univ. of Wisconsin, Madison, WI (United States)

    1994-09-01

    Phenylketonuria (PKU) is an attractive target for gene therapy because of shortcomings in current therapy including lifelong commitment to a difficult and expensive diet, persistent mild cognitive deficits in some children despite adequate dietary therapy, and maternal PKU syndrome. Phenylalanine hydroxylase (PAH) is normally expressed only in liver, but we propose to treat PKU by introducing the gene for PAH into muscle. In order to evaluate both the safety and efficacy of this approach, we have a developed a trangenic mouse which expresses PAH in both cardiac and skeletal muscle. The transgene includes promoter and enhancer sequences from the mouse muscle creatine kinase (MCK) gene fused to the mouse liver PAH cDNA. Mice which have inherited the transgene are healthy, active, and do not exhibit any signs of muscle weakness or wasting. Ectopic PAH expression in muscle is not detrimental to the health, neurologic function, or reproduction of the mice. Pah{sup enu2} hyperphenylalaninemic mice, a model of human PAH deficiency, bred to carry the transgene have substantial PAH expression in cardiac and skeletal muscle but none in liver. Muscle PAH expression alone does not complement the hyperphenylalaninemic phenotype of Pah{sup enu2} mice. However, administration of reduced tetrahydrobiopterin to transgenic Pah{sup enu2} mice is associated with a 25% mean decrease in serum phenylalanine levels. We predict that ectopic expression of PAH in muscle along with adequate muscle supplies of reduced biopterin cofactor will decrease hyperphenylalaninemia in PKU.

  9. PKU (Phenylketonuria) in Your Baby

    Science.gov (United States)

    ... are African-American, Ashkenazi Jewish or Japanese. What causes PKU? PKU is inherited. This means it’s passed from parent to child through genes. A gene is a part of your body’s cells that stores instructions for the way your body grows and works. Genes come in pairs—you get one of ...

  10. Partial HELLP Syndrome: maternal and perinatal outcome

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    Joelcio Francisco Abbade

    Full Text Available CONTEXT: HELLP syndrome is a severe complication of pregnancy characterized by hemolysis, elevated liver enzymes and low platelet count. Some pregnant women develop just one or two of the characteristics of this syndrome, which is termed Partial HELLP Syndrome (PHS. OBJECTIVE: The objective of this study was to evaluate the repercussions on maternal and perinatal outcomes among women that developed PHS and to compare these women with those whose gestational hypertension or preeclampsia did not show alterations for HELLP syndrome in laboratory tests. DESIGN: Observational, retrospective and analytical study. SETTING: Maternity Department of Hospital das Clínicas, Faculdade de Medicina de Botucatu, Universidade Estadual Paulista, Botucatu, São Paulo, Brazil. SAMPLE: Pregnant or post-delivery women who had a blood pressure elevation that was first detected after mid-pregnancy, with or without proteinuria, between January 1990 and December 1995. MAIN MEASUREMENTS: Analysis was made of maternal age, race, parity, hypertension classification, gestational age at the PHS diagnosis, alterations in laboratory tests for HELLP syndrome, time elapsed to discharge from hospital, maternal complications, mode of delivery, incidence of preterm birth, intrauterine growth restriction, stillborn and neonatal death. RESULTS: Three hundred and eighteen women were selected; forty-one women (12.9% had PHS and 277 of them (87.1% did not develop any of the alterations of the HELLP syndrome diagnosis. Preeclampsia was a more frequent type of hypertension in the PHS group than in the hypertension group. None of the women with isolated chronic hypertension developed PHS. The rate of cesarean delivery, eclampsia, and preterm delivery was significantly greater in the PHS group than in the hypertension group. CONCLUSION: We observed that aggressive procedures had been adopted for patients with PHS. These resulted in immediate interruption of pregnancy, with elevated cesarean

  11. Maternal serum markers in screening for Down syndrome

    DEFF Research Database (Denmark)

    Nørgaard-Pedersen, B; Larsen, S O; Arends, J

    1990-01-01

    The addition of two new markers in maternal serum, estriol and HCG, to those already known, namely the level of maternal serum alfa-fetoprotein and maternal age, considerably improves the expected results of a screening strategy for Down syndrome. The detection rate is slightly increased from 53....

  12. Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings

    DEFF Research Database (Denmark)

    Boonen, Susanne E; Pörksen, Sven; Mackay, Deborah Jg

    2008-01-01

    We present the first clinical report of sibs with the multiple maternal hypomethylation syndrome. Both sisters presented with transient neonatal diabetes mellitus (TNDM). By methylation-specific PCR of bisulphite-treated DNA, we found a mosaic spectrum of hypomethylation at the following maternal...

  13. Phenylketonuria (PKU). ARC Q&A #101-53.

    Science.gov (United States)

    Arc, Arlington, TX.

    This fact sheet uses a question-and-answer format to summarize what is known about phenylketonuria (PKU), an inherited metabolic disease that leads to mental retardation and other developmental disabilities if untreated in infancy. Questions and answers address the following topics: what PKU is; how PKU is inherited; the diagnosis of PKU; the…

  14. Syndromes, disorders and maternal risk factors associated with neural tube defects (I).

    Science.gov (United States)

    Chen, Chih-Ping

    2008-03-01

    Fetuses with neural tube defects (NTDs) may be associated with syndromes, disorders, and maternal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as acrocallosal syndrome, autosomal dominant brachydactyly-clinodactyly syndrome, Manouvrier syndrome, short rib-polydactyly syndrome, Disorganization ( Ds )-like human malformations, isolated hemihyperplasia, X-linked NTDs, meroanencephaly, schisis association, diprosopus, fetal valproate syndrome, DiGeorge syndrome/velocardiofacial syndrome, Waardenburg syndrome, folic acid antagonists, diabetes mellitus, and obesity. NTDs associated with syndromes, disorders, and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders, and maternal risk factors may be different from those of non-syndromic multifactorial NTDs. Perinatal identification of NTDs should alert one to the syndromes, disorders, and maternal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling.

  15. Prenatal Maternal Smoking and Tourette Syndrome: A Nationwide Register Study.

    Science.gov (United States)

    Leivonen, Susanna; Chudal, Roshan; Joelsson, Petteri; Ekblad, Mikael; Suominen, Auli; Brown, Alan S; Gissler, Mika; Voutilainen, Arja; Sourander, Andre

    2016-02-01

    This is the first nationwide register-based study to examine the relationship between prenatal maternal smoking and Tourette syndrome. A total of 767 children diagnosed with Tourette syndrome were identified from the Finnish Hospital Discharge Register. Each case was matched to four controls. Information on maternal smoking during pregnancy was obtained from the Finnish Medical Birth Register. Conditional logistic regression models were used for statistical analyses. Prenatal maternal smoking was associated with Tourette syndrome when comorbid with ADHD (OR 4.0, 95 % CI 1.2-13.5, p = 0.027 for exposure during first trimester, OR 1.7, 95 % CI, 1.05-2.7, p = 0.031 for exposure for the whole pregnancy). There was no association between maternal smoking during pregnancy and Tourette syndrome without comorbid ADHD (OR 0.5, 95 % CI 0.2-1.3, p = 0.166, OR 0.9, 95 % CI 0.7-1.3, p = 0.567). Further research is needed to elucidate the mechanisms behind the association between prenatal maternal smoking and Tourette syndrome with comorbid ADHD.

  16. Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases

    NARCIS (Netherlands)

    Feillet, Francois; Muntau, Ania C.; Debray, Francois-Guillaume; Lotz-Havla, Amelie S.; Puchwein-Schwepcke, Alexandra; Fofou-Caillierez, Ma'atem Beatrice; van Spronsen, Francjan; Trefz, Fritz Friedrich

    Sapropterin dihydrochloride (SD) is the first drug treatment for phenylketonuria (PKU), but due to the lack of data, its use in maternal PKU must be undertaken with caution as noted in the FDA and EMEA labels. We collected data from eight pregnancies in PKU women treated with SD and we analysed the

  17. Syndromes, Disorders and Maternal Risk Factors Associated With Neural Tube Defects (VII

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2008-09-01

    Full Text Available Neural tube defects (NTDs may be associated with syndromes, disorders and maternal risk factors. This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocomelia syndrome (von Voss-Cherstvoy syndrome, Siegel-Bartlet syndrome, fetal warfarin syndrome, craniotelencephalic dysplasia, Czeizel-Losonci syndrome, maternal cocaine abuse, Weissenbacher-Zweymüller syndrome, parietal foramina (cranium bifidum, Apert syndrome, craniomicromelic syndrome, XX-agonadism with multiple dysraphic lesions including omphalocele and NTDs, Fryns microphthalmia syndrome, Gershoni-Baruch syndrome, PHAVER syndrome, periconceptional vitamin B6 deficiency, and autosomal dominant Dandy-Walker malformation with occipital cephalocele. NTDs associated with these syndromes, disorders and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different from those of nonsyndromic multifactorial NTDs. Perinatal diagnosis of NTDs should alert doctors to the syndromes, disorders and maternal risk factors associated with NTDs, and prompt thorough etiologic investigation and genetic counseling.

  18. Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (II

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    Chih-Ping Chen

    2008-03-01

    Full Text Available Fetuses with neural tube defects (NTDs maybe associated with syndromes, disorders, and maternal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as Currarino syndrome, sacral defect with anterior meningocele, Jarcho-Levin syndrome (spondylo-costal dysostosis, lateral meningocele syndrome, neurofibromatosis type I, Marfan syndrome, and hyperthermia. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders, and maternal risk factors may be different from those of non-syndromic multifactorial NTDs. Perinatal identification of NTDs should alert one to the syndromes, disorders, and maternal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling.

  19. Syndromes, Disorders and Maternal Risk Factors Associated With Neural Tube Defects (VI

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    Chih-Ping Chen

    2008-09-01

    Full Text Available Neural tube defects (NTDs may be associated with syndromes, disorders, and maternal and fetal risk factors. This article provides a comprehensive review of the syndromes, disorders, and maternal and fetal risk factors associated with NTDs, including maternal fumonisin consumption, periconceptional zinc deficiency, parental occupational exposure and residential proximity to pesticides, lower socioeconomic status, fetal alcohol syndrome, mutations in the VANGL1 gene, human athymic Nude/SCID fetus, and single nucleotide polymorphism in the NOS3 gene. NTDs associated with these syndromes, disorders, and maternal and fetal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different from those of nonsyndromic multifactorial NTDs. Perinatal diagnosis of NTDs should alert doctors to the syndromes, disorders, and maternal and fetal risk factors associated with NTDs, and prompt thorough etiologic investigation and genetic counseling.

  20. Maternal and obstetrical predictors of sudden infant death syndrome (SIDS).

    Science.gov (United States)

    Friedmann, Isabel; Dahdouh, Elias M; Kugler, Perlyne; Mimran, Gracia; Balayla, Jacques

    2017-10-01

    Public Health initiatives, such as the "Safe to Sleep" campaign, have traditionally targeted infants' risk factors for the prevention of Sudden Infant Death Syndrome (SIDS). However, controversy remains regarding maternal and obstetrical risk factors for SIDS. In our study, we sought out to determine both modifiable and non-modifiable obstetrical and maternal risk factors associated with SIDS. We conducted a population-based cohort study using the CDC's Linked Birth-Infant Death data from the United States for the year 2010. The impact of several obstetrical and maternal risk factors on the risk of overall infant mortality and SIDS was estimated using unconditional regression analysis, adjusting for relevant confounders. Our cohort consisted of 4,007,105 deliveries and 24,174 infant deaths during the first year of life, of which 1991 (8.2%) were due to SIDS. Prominent risk factors for SIDS included (OR [95% CI]): black race, 1.89 [1.68-2.13]; maternal smoking, 3.56 [3.18-3.99]; maternal chronic hypertension, 1.73 [1.21-2.48]; gestational hypertension, 1.51 [1.23-1.87]; premature birth <37 weeks, 2.16 [1.82-2.55]; IUGR, 2.46 [2.14-2.82]; and being a twin, 1.81 [1.43-2.29], p < 0.0001. Relative to a cohort of infants who died of other causes, risk factors with a predilection for SIDS were maternal smoking, 2.48 [2.16-2.83] and being a twin, 1.52 [1.21-1.91], p < 0.0001. Conclusions for practice: While certain socio-demographic and gestational characteristics are important risk factors, maternal smoking remains the strongest prenatal modifiable risk factor for SIDS. We recommend the continuation of Public Health initiatives that promote safe infant sleeping practices and smoking cessation during and after pregnancy.

  1. Maternal Burnout Syndrome: Contextual and Psychological Associated Factors

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    Astrid Lebert-Charron

    2018-06-01

    Full Text Available Background: Becoming a parent is one of the most significant experiences in a woman’s life. Including substantial and long-lasting mental, social, and physical charge, the parenting experience may also be a potentially stressful and overwhelming task. Since the eighties, the notion of parental burnout syndrome has gained increasing attention, but its contextual and psychological factors need to be better identified.Aims: To investigate a large array of contextual and psychological factors associated with maternal burnout syndrome in a French community-based population in order to contribute to better operationalize the notion of parental burnout and to explore its determinants.Method: A total of 304 French-speaking mothers (mean age = 34.8 years, SD = 6.72 completed a set of questionnaires including a sociodemographic form (in order to gather general information about the mothers, their spouses, and children living at home. The Perceived Stress Scale, the Maslach Burnout Inventory adapted to parents (MBI-parental, the Hospital Anxiety and Depression Scale, the Parental Stress Index-Short Form and the Ways of Coping Checklist were used in this study.Results: Multivariate linear regression analyses revealed that scores on the MBI-parental version were strongly and positively associated with depressive and anxiety symptoms, as well as with perceived stress related to parenthood and parenting stress levels. Moreover, using the task-oriented coping style in parenthood was strongly and positively associated with personal accomplishment. Conversely, some sociodemographic characteristics were found to be negatively associated with maternal burnout: being employed, working full time and being a mother living without a coparent.Conclusion: The construct of maternal burnout syndrome seems to be linked to a conjunction of psychological and contextual factors associated with maternal exhaustion. The implication of the results for prevention and

  2. Maternal Burnout Syndrome: Contextual and Psychological Associated Factors

    Science.gov (United States)

    Lebert-Charron, Astrid; Dorard, Géraldine; Boujut, Emilie; Wendland, Jaqueline

    2018-01-01

    Background: Becoming a parent is one of the most significant experiences in a woman’s life. Including substantial and long-lasting mental, social, and physical charge, the parenting experience may also be a potentially stressful and overwhelming task. Since the eighties, the notion of parental burnout syndrome has gained increasing attention, but its contextual and psychological factors need to be better identified. Aims: To investigate a large array of contextual and psychological factors associated with maternal burnout syndrome in a French community-based population in order to contribute to better operationalize the notion of parental burnout and to explore its determinants. Method: A total of 304 French-speaking mothers (mean age = 34.8 years, SD = 6.72) completed a set of questionnaires including a sociodemographic form (in order to gather general information about the mothers, their spouses, and children living at home). The Perceived Stress Scale, the Maslach Burnout Inventory adapted to parents (MBI-parental), the Hospital Anxiety and Depression Scale, the Parental Stress Index-Short Form and the Ways of Coping Checklist were used in this study. Results: Multivariate linear regression analyses revealed that scores on the MBI-parental version were strongly and positively associated with depressive and anxiety symptoms, as well as with perceived stress related to parenthood and parenting stress levels. Moreover, using the task-oriented coping style in parenthood was strongly and positively associated with personal accomplishment. Conversely, some sociodemographic characteristics were found to be negatively associated with maternal burnout: being employed, working full time and being a mother living without a coparent. Conclusion: The construct of maternal burnout syndrome seems to be linked to a conjunction of psychological and contextual factors associated with maternal exhaustion. The implication of the results for prevention and intervention strategies

  3. Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (I

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2008-03-01

    Full Text Available Fetuses with neural tube defects (NTDs maybe associated with syndromes, disorders, and maternal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as acrocallosal syndrome, autosomal dominant brachydactyly-clinodactyly syndrome, Manouvrier syndrome, short rib-polydactyly syndrome, Disorganization (Ds-like human malformations, isolated hemihyper-plasia, X-linked NTDs, meroanencephaly, schisis association, diprosopus, fetal valproate syndrome, DiGeorge syndrome/velocardiofacial syndrome, Waardenburg syndrome, folic acid antagonists, diabetes mellitus, and obesity. NTDs associated with syndromes, disorders, and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders, and maternal risk factors may be different from those of non-syndromic multifactorial NTDs. Perinatal identification of NTDs should alert one to the syndromes, disorders, and maternal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling.

  4. Brief Communication: Maternal Plasma Autoantibodies Screening in Fetal Down Syndrome

    Directory of Open Access Journals (Sweden)

    Karol Charkiewicz

    2016-01-01

    Full Text Available Imbalance in the metabolites levels which can potentially be related to certain fetal chromosomal abnormalities can stimulate mother’s immune response to produce autoantibodies directed against proteins. The aim of the study was to determine the concentration of 9000 autoantibodies in maternal plasma to detect fetal Down syndrome. Method. We performed 190 amniocenteses and found 10 patients with confirmed fetal Down syndrome (15th–18th weeks of gestation. For the purpose of our control we chose 11 women without confirmed chromosomal aberration. To assess the expression of autoantibodies in the blood plasma, we used a protein microarray, which allows for simultaneous determination of 9000 proteins per sample. Results. We revealed 213 statistically significant autoantibodies, whose expression decreased or increased in the study group with fetal Down syndrome. The second step was to create a classifier of Down syndrome pregnancy, which includes 14 antibodies. The predictive value of the classifier (specificity and sensitivity is 100%, classification errors, 0%, cross-validation errors, 0%. Conclusion. Our findings suggest that the autoantibodies may play a role in the pathophysiology of Down syndrome pregnancy. Defining their potential as biochemical markers of Down syndrome pregnancy requires further investigation on larger group of patients.

  5. Bloom syndrome and maternal uniparental disomy for chromosome 15

    Energy Technology Data Exchange (ETDEWEB)

    Woodage, T.; Prasad, M.; Trent, R.J.; Smith, A. (Children' s Hospital, Camperdown, New South Wales (New Zealand)); Dixon, J.W.; Romain, D.R.; Columbano-Green, L.M.; Selby, R.E. (Wellington Hospital (New Zealand)); Graham, D. (Waikato Hospital, Hamilton (New Zealand)); Rogan, P.K. (Pennsylvania State Univ., Hershey, PA (United States)) (and others)

    1994-07-01

    Bloom syndrome (BS) is an autosomal recessive disorder characterized by increases in the frequency of sister-chromatid exchange and in the incidence of malignancy. Chromosome-transfer studies have shown the BS locus to map to chromosome 15q. This report describes a subject with features of both BS and Prader-Willi syndrome (PWS). Molecular analysis showed maternal uniparental disomy for chromosome 15. Meiotic recombination between the two disomic chromosomes 15 has resulted in heterodisomy for proximal 15q and isodisomy for distal 15q. In this individual BS is probably due to homozygosity for a gene that is telomeric to D15S95 (15q25), rather than to genetic imprinting, the mechanism responsible for the development of PWS. This report represents the first application of disomy analysis to the regional localization of a disease gene. This strategy promises to be useful in the genetic mapping of other uncommon autosomal recessive conditions. 37 refs., 3 figs., 2 tabs.

  6. ADAM 12 as a second-trimester maternal serum marker in screening for Down syndrome

    DEFF Research Database (Denmark)

    Christiansen, Michael; Spencer, Kevin; Laigaard, Jennie

    2007-01-01

    ADAM 12 is a placenta-derived glycoprotein that is involved in growth and differentiation. The maternal serum concentration of ADAM 12 is a potential first-trimester maternal serum marker of Down syndrome (DS). Here we examine the potential of ADAM 12 as a second-trimester maternal serum marker...

  7. Neonatal withdrawal syndrome after chronic maternal consumption of 4-methylethcathinone.

    Science.gov (United States)

    Pichini, Simona; Rotolo, Maria Concetta; García, Jordi; Girona, Noelia; Leal, Lorna; García-Algar, Oscar; Pacifici, Roberta

    2014-12-01

    Synthetic cathinones have been markedly present in the Spanish drug market in recent years. These substances can be easily obtained in "smart shops", smoke shops, gas stations and web sites where they can be bought and received anonymously avoiding normal law controls. For the first time we present a case of a neonatal withdrawal syndrome in a baby born to a woman who was a chronic consumer of 4-methylethcathinone. The newborn presented with increased jitteriness and irritability, highpitched cry, hypertonia in the limbs and brisk tendon reflexes. 4-Methylethcathinone was identified and quantified by liquid chromatography tandem mass spectrometry in the four subsequent 3cm segments of maternal hair (4.3, 4.0, 4.0 and 3.9ng/mg hair starting from most proximal segment) accounting for maternal consumption during the whole pregnancy and before and in neonatal meconium (0.7ng/g) confirming fetal exposure during intrauterine life. Methadone and its metabolite were also measured in maternal and neonatal matrices. Counseling pregnant women and women who may become pregnant on the consequences of fetal drug exposure to new designer drugs like 4-methylethcathinone is critical to preventing poor neonatal outcomes. This case report is informative to those studying designer drugs and those clinically involved with pregnant women abusing psychoactive substances. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  8. Influences on maternal responsivity in mothers of children with fragile X syndrome

    OpenAIRE

    Sterling, Audra M.; Warren, Steven F.; Brady, Nancy; Fleming, Kandace

    2013-01-01

    This study investigated the influence of maternal and child variables on the maternal responsivity of 55 mothers with young children with fragile X syndrome. Data included video observations of maternal-child interactions in four different contexts, standardized assessments with the children, and standardized questionnaires for the mothers. The video observations were coded for child communication acts; maternal responsivity was coded at two levels: a more general measure and a behavior-by-be...

  9. Maternal Pseudo-Bartter Syndrome Associated with Severe Perinatal Brain Injury.

    Science.gov (United States)

    Vora, Shrenik; Ibrahim, Thowfique; Rajadurai, Victor Samuel

    2017-09-15

    Maternal electrolyte imbalance is rarely reported as causative factor of severe perinatal brain injury. This case outlines a unique maternal and neonatal pseudo-Bartter syndrome presented with metabolic alkalosis and hypochloremia due to maternal severe vomiting. Neonatal MRI brain revealed extensive brain hemorrhages with porencephalic cysts. Subsequent investigation workup points towards maternal severe metabolic alkalosis as its cause. Careful medical attention should be paid to pregnant women with excessive vomiting to ensure a healthy outcome for both the mother and the baby.

  10. Neonatal neurological assessment of offspring in maternal phenylketonuria

    NARCIS (Netherlands)

    Waisbren, SE; Chang, P; Levy, HL; Shifrin, H; Allred, E; Azen, C; de la Cruz, F; Hanley, W; Koch, R; Matalon, R; Rouse, B

    This study assesses the impact of prenatal and postnatal factors in maternal phenylketonuria (PKU). The Dubowitz Neurological Assessment of the Preterm and Full-term Newborn Infant was administered within the first 8 days of life to 56 offspring of women with PKU and 45 controls. Follow-up testing

  11. Maternal responsivity in mothers of young children with Down syndrome.

    Science.gov (United States)

    Sterling, Audra; Warren, Steven F

    2014-10-01

    The purpose of this study was to examine maternal responsivity and directive behaviors in mothers of children with Down syndrome (DS). Participants included 22 mothers with a young child with DS compared to 22 mothers of chronologically age-matched typically developing (TD) children using a cross-sectional design. The dyads participated in videotaped structured activities that were coded for responsive and directive behaviors. RESULTS indicated that the mothers of children with DS used a more facilitative style with the older children while these behaviors decreased with older children with TD; one directive behavior, request for behavioral comply, increased with the older children with DS. The mothers of children with DS adapted their parenting style to be facilitative of their children's linguistic development.

  12. "I Feel Lucky" - Gratitude Among Young Adults with Phenylketonuria (PKU).

    Science.gov (United States)

    Diesen, Plata Sofie

    2016-10-01

    If persons with phenylketonuria (PKU) do not start a protein restricted diet in early infancy, they will suffer severe brain damage. Previous qualitative research on adults and adolescents with PKU has identified stigmatization, uncertain risk perceptions, considerable time spent on preparing food, and incongruence between the PKU diet and certain lifestyle demands. The aim of this study was to explore young and early treated Norwegian adults' experiences, by conducting in-depth interviews in 2011 with 11 adults with PKU, aged 20-30. Being the first qualitative study on people with PKU in Norway, the process was inspired by grounded theory. All participants reflected on their own health and existence by expressing positive counterfactual thoughts. They considered themselves lucky to have had parents who had managed the diet, they were grateful for the time and place they were born, and for information and treatment availability, although the results also show some ambiguous attitudes towards the hospital which provided the treatment. The expression of gratitude in association with having PKU suggests a major positive coping strategy. It contributes to a more holistic understanding of the experiences and attitudes of young, Norwegian adults with PKU, as it provides a counterweight to the negative experiences.

  13. Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (III

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2008-06-01

    Full Text Available Fetuses with neural tube defects (NTDs may be associated with syndromes, disorders, and maternal and fetal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal and fetal risk factors associated with NTDs, such as omphalocele, OEIS (omphalocele-exstrophy-imperforate anus-spinal defects complex, pentalogy of Cantrell, amniotic band sequence, limb-body wall complex, Meckel syndrome, Joubert syndrome, skeletal dysplasia, diabetic embryopathy, and single nucleotide polymorphisms in genes of glucose metabolism. NTDs associated with syndromes, disorders, and maternal and fetal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different from those of nonsyndromic multi facto rial NTDs. Perinatal identification of NTDs should alert the clinician to the syndromes, disorders, and maternal and fetal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling. [Taiwan J Obstet Cynecol 2008;47(2:131-140

  14. Maternal Support for Autonomy: Relationships with Persistence for Children with Down Syndrome and Typically Developing Children

    Science.gov (United States)

    Gilmore, Linda; Cuskelly, Monica; Jobling, Anne; Hayes, Alan

    2009-01-01

    Maternal behaviors and child mastery behaviors were examined in 25 children with Down syndrome and 43 typically developing children matched for mental age (24-36 months). During a shared problem-solving task, there were no group differences in maternal directiveness or support for autonomy, and mothers in the two groups used similar verbal…

  15. 77 FR 42768 - Leadership Meeting on Maternal, Fetal, and Infant Opioid Exposure and Neonatal Abstinence Syndrome

    Science.gov (United States)

    2012-07-20

    ... OFFICE OF NATIONAL DRUG CONTROL POLICY Leadership Meeting on Maternal, Fetal, and Infant Opioid Exposure and Neonatal Abstinence Syndrome AGENCY: Office of National Drug Control Policy. ACTION: Notice. SUMMARY: An ONDCP Leadership Meeting on Maternal, Fetal and Infant Opioid Exposure and Neonatal Abstinence...

  16. Physiological Correlates of Maternal Responsivity in Mothers of Preschoolers with Fragile X Syndrome

    Science.gov (United States)

    Robinson, Ashley N.; Roberts, Jane E.; Brady, Nancy C.; McQuillin, Samuel D.; Warren, Steven F.

    2016-01-01

    The present study examined the relationship between salivary cortisol and maternal responsiveness in mothers of boys with fragile X syndrome (FXS). Maternal responsivity is strongly associated with child outcomes, and children with FXS are at risk for compromised development due to intellectual disability and problem behavior. Increased…

  17. Influences on Maternal Responsivity in Mothers of Children with Fragile X Syndrome

    Science.gov (United States)

    Sterling, Audra M.; Warren, Steven F.; Brady, Nancy; Fleming, Kandace

    2013-01-01

    This study investigated the influence of maternal and child variables on the maternal responsivity of 55 mothers with young children with fragile X syndrome. Data included video observations of mother-child interactions in four different contexts, standardized assessments with the children, and standardized questionnaires for the mothers. The…

  18. Maternal risk factors predicting child physical characteristics and dysmorphology in fetal alcohol syndrome and partial fetal alcohol syndrome.

    Science.gov (United States)

    May, Philip A; Tabachnick, Barbara G; Gossage, J Phillip; Kalberg, Wendy O; Marais, Anna-Susan; Robinson, Luther K; Manning, Melanie; Buckley, David; Hoyme, H Eugene

    2011-12-01

    Previous research in South Africa revealed very high rates of fetal alcohol syndrome (FAS), of 46-89 per 1000 among young children. Maternal and child data from studies in this community summarize the multiple predictors of FAS and partial fetal alcohol syndrome (PFAS). Sequential regression was employed to examine influences on child physical characteristics and dysmorphology from four categories of maternal traits: physical, demographic, childbearing, and drinking. Then, a structural equation model (SEM) was constructed to predict influences on child physical characteristics. Individual sequential regressions revealed that maternal drinking measures were the most powerful predictors of a child's physical anomalies (R² = .30, p < .001), followed by maternal demographics (R² = .24, p < .001), maternal physical characteristics (R²=.15, p < .001), and childbearing variables (R² = .06, p < .001). The SEM utilized both individual variables and the four composite categories of maternal traits to predict a set of child physical characteristics, including a total dysmorphology score. As predicted, drinking behavior is a relatively strong predictor of child physical characteristics (β = 0.61, p < .001), even when all other maternal risk variables are included; higher levels of drinking predict child physical anomalies. Overall, the SEM model explains 62% of the variance in child physical anomalies. As expected, drinking variables explain the most variance. But this highly controlled estimation of multiple effects also reveals a significant contribution played by maternal demographics and, to a lesser degree, maternal physical and childbearing variables. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  19. Neonatal abstinence syndrome: Diagnostic dilemmas in the maternity ward

    Directory of Open Access Journals (Sweden)

    Lazić-Mitrović Tanja

    2015-01-01

    Full Text Available Introduction. Neonatal abstinence syndrome (NAS refers to a newborn neurological, gastrointestinal and/or respiratory disorder if a newborn was exposed to psychoactive substances in the intrauterine period. NAS is difficult to diagnose due to unreliability of the data on addictive substances use during pregnancy, limited possibilities of the prenatal exposure diagnosis and postnatal substance detection, which all lead to diagnostic dilemmas. Objective. The aim of this study was to indicate the problems in patients with early NAS diagnosis in the maternity ward and the importance of clinical presentation used as a guide toward the diagnosis. Methods. This retrospective study included five term eutrophic newborns with high Apgar score, good adaptation in the first day and with clinical presentation of NAS during the second day of life. The clinical presentation was dominated by irritability, increased wakefulness, increased muscle tone, shrilly crying, tremors, problems with accepting food, tachypnea, subfebrility and hyperhidrosis. Finnegan scale was introduced in order to diagnose NAS and apply the therapy. Single-medication therapy of phenobarbitone was applied in four cases and a combination of phenobarbitone and morphine in one case. For toxicological analysis newborns’ urine samples were used. Results. Conditions such as perinatal asphyxia, infection, hunger, polycythemia, hypoglycemia or hypocalcemia were excluded. Finnegan score implied that pharmacological treatment had to be administered. The discrepancy between the NAS anamnesis and toxicological analysis existed. Response to the treatment was positive in all cases. Conclusion. NAS is a multisystemic disorder and should be suspected when it is noticed that children exhibit characteristic signs. However, other pathological conditions have to be excluded. Quantification according to the adopted scales for NAS leads toward appropriate treatment and recovery of the newborns.

  20. Overweight and obesity in PKU: The results from 8 centres in Europe and Turkey

    Directory of Open Access Journals (Sweden)

    H. Gokmen Ozel

    2014-01-01

    Discussion: In PKU, it is clear from a number of treatment centres that women and girls with PKU appear particularly vulnerable to excess weight gain and it is important that female weight gain is closely monitored and individual strategies introduced to prevent excess weight gain. Overall, in PKU there is a need to understand better the food patterns and activity levels of patients.

  1. The influence of parental food preference and neophobia on children with phenylketonuria (PKU).

    Science.gov (United States)

    Evans, Sharon; Daly, Anne; Chahal, Satnam; Ashmore, Catherine; MacDonald, John; MacDonald, Anita

    2018-03-01

    In a previous case-control study, we demonstrated that children with PKU and non-PKU controls preferred sweet foods. Additionally, children with PKU exhibited food neophobia, with no preference for bitter tasting foods associated with the taste of phenylalanine (Phe)-free L-amino acid supplements. In an observational extension study, we evaluated the influence of parental food choice and neophobia on their children's taste preferences and food neophobia. Male and female parents/caregivers of 35 children with PKU and 35 control parents, completed a neophobia and food frequency questionnaire for comparison using the same questionnaires that they completed for their children. Both groups of children (PKU and non PKU control) were rated as more food neophobic and exhibited more neophobic behaviour than parents, although children with PKU more so than non-PKU controls (PKU food neophobia p foods such as bread and pasta, and more sweet snacks such as biscuits than their parents. Non-PKU control children's food choices were closer to their parent's choices. In PKU, parental food choices and their food neophobia have limited influence on their children's eating habits. Food neophobia in children with PKU may be associated with fear of eating unfamiliar foods potentially containing a source of protein or aspartame. Their preference for sweet foods may be influenced by limited food choices and habitual consumption of artificially sweetened L-amino acid supplements.

  2. Maternal support for autonomy: relationships with persistence for children with Down syndrome and typically developing children.

    Science.gov (United States)

    Gilmore, Linda; Cuskelly, Monica; Jobling, Anne; Hayes, Alan

    2009-01-01

    Maternal behaviors and child mastery behaviors were examined in 25 children with Down syndrome and 43 typically developing children matched for mental age (24-36 months). During a shared problem-solving task, there were no group differences in maternal directiveness or support for autonomy, and mothers in the two groups used similar verbal strategies when helping their child. There were also no group differences in child mastery behaviors, measured as persistence with two optimally challenging tasks. However, the two groups differed in the relationships of maternal style with child persistence. Children with Down syndrome whose mothers were more supportive of their autonomy in the shared task displayed greater persistence when working independently on a challenging puzzle, while children of highly directive mothers displayed lower levels of persistence. For typically developing children, persistence was unrelated to maternal style, suggesting that mother behaviors may have different causes or consequences in the two groups.

  3. Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development

    OpenAIRE

    de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H.

    2011-01-01

    The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents’ speech directed to children was obtained through observation of naturalistic parent–child dyadic interactions. Verbatim transcripts of m...

  4. Practices in prescribing protein substitutes for PKU in Europe

    DEFF Research Database (Denmark)

    Aguiar, A; Ahring, K; Almeida, M F

    2015-01-01

    BACKGROUND: There appears little consensus concerning protein requirements in phenylketonuria (PKU). METHODS: A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein...

  5. MATERNAL HEMOLYSIS, ELEVATED LIVER-ENZYMES AND LOW PLATELETS SYNDROME - SPECIFIC PROBLEMS IN THE NEWBORN

    NARCIS (Netherlands)

    EELTINK, CM; VANLINGEN, RA; AARNOUDSE, JG; DERKS, JB; OKKEN, A

    To evaluate the effects of maternal haemolysis, elevated liver enzymes and low platelets (HELLP) syndrome on the fetus and neonate we retrospectively investigated the outcome of 87 pregnancies. All women showed thrombocytopenia, elevated liver enzymes and haemolysis. None of them died. Nine infants

  6. Maladaptive Behavior Differences in Prader-Willi Syndrome Due to Paternal Deletion versus Maternal Uniparental Disomy.

    Science.gov (United States)

    Dykens, Elisabeth M.; King, Bryan H.; Cassidy, Suzanne B.

    1999-01-01

    This study compared maladaptive behavior in 23 people with Prader-Willi syndrome due to paternal deletion and in 23 age- and gender-matched subjects with maternal uniparental disomy. Controlling for IQs, the deletion cases showed significantly higher maladaptive ratings, more symptom-related distress, and more behavior problems. Findings suggest a…

  7. Maternal placental syndromes: pathological mechanisms and long-term consequences

    NARCIS (Netherlands)

    Veerbeek, J.H.W.

    2015-01-01

    Preeclampsia, intra uterine growth restriction (IUGR) and placental abruption are major contributors to maternal and perinatal morbidity and mortality. In these disorders the placenta is a key aetiological factor and therefore preeclampsia, IUGR and placental abruption are also referred to as

  8. Maternal obesity and high-fat diet program offspring metabolic syndrome.

    Science.gov (United States)

    Desai, Mina; Jellyman, Juanita K; Han, Guang; Beall, Marie; Lane, Robert H; Ross, Michael G

    2014-09-01

    We determined the potential programming effects of maternal obesity and high-fat (HF) diet during pregnancy and/or lactation on offspring metabolic syndrome. A rat model of maternal obesity was created using an HF diet prior to and throughout pregnancy and lactation. At birth, pups were cross-fostered, thereby generating 4 paradigms of maternal diets during pregnancy/lactation: (1) control (Con) diet during pregnancy and lactation (Con/Con), (2) HF during pregnancy and lactation (HF/HF), (3) HF during pregnancy alone (HF/Con), and (4) HF during lactation alone (Con/HF). Maternal phenotype during pregnancy and the end of lactation evidenced markedly elevated body fat and plasma corticosterone levels in HF dams. In the offspring, the maternal HF diet during pregnancy alone programmed increased offspring adiposity, although with normal body weight, whereas the maternal HF diet during lactation increased both body weight and adiposity. Metabolic disturbances, particularly that of hyperglycemia, were apparent in all groups exposed to the maternal HF diet (during pregnancy and/or lactation), although differences were apparent in the manifestation of insulin resistant vs insulin-deficient phenotypes. Elevated systolic blood pressure was manifest in all groups, implying that exposure to an obese/HF environment is disadvantageous for offspring health, regardless of pregnancy or lactation periods. Nonetheless, the underlying mechanism may differ because offspring that experienced in utero HF exposure had increased corticosterone levels. Maternal obesity/HF diet has a marked impact on offspring body composition and the risk of metabolic syndrome was dependent on the period of exposure during pregnancy and/or lactation. Copyright © 2014 Mosby, Inc. All rights reserved.

  9. Simulation analysis of 9033 cases of second trimester maternal serum screening for Down’s syndrome

    Directory of Open Access Journals (Sweden)

    Shu-fang JIANG

    2017-06-01

    Full Text Available Objective To reduce the screening positive rate (SPR and improve clinical efficiency of maternal serum screening for Down's syndrome. Methods Nine thousand and thirty-three cases of second trimester maternal serum screening for Down's syndrome were included from Apr. 2013 to Apr. 2014 in the present study. The screening results, all basic data and equation curves were analyzed retrospectively. Based on the data from the authors' laboratory, the important adjustment parameters were simulated. Combined with postnatal follow-up results, the quality and clinical performance of second trimester serum screening for Down's syndrome were evaluated. Results The SPR of second trimester serum screening for Down's syndrome was 6.69%(604/9033, the detection rate (DR was 75%(3/4, and FPR was 6.65%(601/9033. The median multiple of median (MOM of alpha-fetoprotein (AFP was low and SPR was high, and MOM of free human chorionic gonadotropin β subunit (free hCGβ were high and SPR was high, while MOM of unconjugated estriol (uE3 were a little bit low, and SPR was slightly high. Considering these three factors, it is believed that the screening positive rate is high. By the simulation adjustments of MOM value equations (AFP and free hCGβ and weight correction equation, the SPR reduced to 4.11%(371/9033 after recalculating the risk, FPR declined to 4.07%(368/9033, and no more Down's syndrome fetus were missed compared with postnatal follow-up results. Conclusion Based on a localized setting depending on the local laboratory data, we suggest that the MOM value distributions(AFP, free hCGβ and uE3 and maternal weight should be regularly adjusted since it is a useful way to reduce the false-positive rate and improve clinical efficiency of maternal serum screening for Down's syndrome. DOI: 10.11855/j.issn.0577-7402.2017.04.13

  10. The Role of Maternal Dietary Proteins in Development of Metabolic Syndrome in Offspring

    Directory of Open Access Journals (Sweden)

    Alireza Jahan-Mihan

    2015-11-01

    Full Text Available The prevalence of metabolic syndrome and obesity has been increasing. Pre-natal environment has been suggested as a factor influencing the risk of metabolic syndrome in adulthood. Both observational and experimental studies showed that maternal diet is a major modifier of the development of regulatory systems in the offspring in utero and post-natally. Both protein content and source in maternal diet influence pre- and early post-natal development. High and low protein dams’ diets have detrimental effect on body weight, blood pressure191 and metabolic and intake regulatory systems in the offspring. Moreover, the role of the source of protein in a nutritionally adequate maternal diet in programming of food intake regulatory system, body weight, glucose metabolism and blood pressure in offspring is studied. However, underlying mechanisms are still elusive. The purpose of this review is to examine the current literature related to the role of proteins in maternal diets in development of characteristics of the metabolic syndrome in offspring.

  11. Transcription is required to establish maternal imprinting at the Prader-Willi syndrome and Angelman syndrome locus.

    Directory of Open Access Journals (Sweden)

    Emily Y Smith

    2011-12-01

    Full Text Available The Prader-Willi syndrome (PWS [MIM 17620] and Angelman syndrome (AS [MIM 105830] locus is controlled by a bipartite imprinting center (IC consisting of the PWS-IC and the AS-IC. The most widely accepted model of IC function proposes that the PWS-IC activates gene expression from the paternal allele, while the AS-IC acts to epigenetically inactivate the PWS-IC on the maternal allele, thus silencing the paternally expressed genes. Gene order and imprinting patterns at the PWS/AS locus are well conserved from human to mouse; however, a murine AS-IC has yet to be identified. We investigated a potential regulatory role for transcription from the Snrpn alternative upstream exons in silencing the maternal allele using a murine transgene containing Snrpn and three upstream exons. This transgene displayed appropriate imprinted expression and epigenetic marks, demonstrating the presence of a functional AS-IC. Transcription of the upstream exons from the endogenous locus correlates with imprint establishment in oocytes, and this upstream exon expression pattern was conserved on the transgene. A transgene bearing targeted deletions of each of the three upstream exons exhibited loss of imprinting upon maternal transmission. These results support a model in which transcription from the Snrpn upstream exons directs the maternal imprint at the PWS-IC.

  12. Nutritional evaluation of the patient with phenylketonuria (PKU

    Directory of Open Access Journals (Sweden)

    Sara Guillén-López

    2014-07-01

    Full Text Available In order to diagnose the nutritional status and to provide a personalized treatment in PKU patients, an evaluation of nutritional status should be conducted. Several components are involved in the nutritional assessment; among the parameters there are anthropometric evaluation: weight, height, head circumference; biochemical: proteins, amino acids, vitamins, inorganic nutrients, essential fatty acids; clinical: deficiencies in hair, skin, oral cavity , eyes, etc.; dietary assessment: quantification of energy intake, macronutrients and micronutrients through several tools such as the 24-hour recall; finally it must be taken into account the interaction of nutrients such as carnitine, fatty acids, vitamin B complex, among others, with drugs, which are often anticonvulsants, in order to plan the diet and prevent a future nutritional deficiency. It is important to perform the nutritional status assessment frequently in patients with PKU because the dietary management is essential to prevent neurological problems.

  13. GAMBARANGAYA KEPEMIMPINAN KEPALARUANGANPERAWATANDI RUMAH SAKIT PKU MUHAMMADIYAH YOGYAKARTA

    Directory of Open Access Journals (Sweden)

    Deby Zulkarnain Rahadian Syah

    2015-12-01

    Full Text Available Background:PKU Muhammadiyah Hospitalof Yogyakarta isan Islamic type B referral hospital in SpecialRegency ofYogyakarta and Central Java. Inspite of beingareferral hospital,an improvement inservicesandnursing carestill needs to be considered. Head of nursing section has asignificant role in organizingtheassociate nurses in effort todeliveringbetter services. A successful head of nursing section must be agood identifier and could appreciatethe spirit of enquiry.Methods:This researchwas aquantitative-descriptive research. Measurement tool of this researchwas aquestionairethat were distributed to 94 respondents. The subjectsof this researchwerevocational nursesatinpatient roomof PKU Muhammdiyah Hospital of Yogyakarta.Results:This researchshowed that the leadership styles assessed by the associate nurses inIbnu Shinawardwasconsulting style(72,7%, Marwahwardwasconsultingstyle (56,3%, Roudhohwardwasconsultingstyle (63,3%, Arafah wardwas participating style (53,8%, Shofa-musdalifah wardwas consulting style(71,4%, Zam-zamwardwasparticipatingstyle (81,8%, and Multazamwardwasconsultingstyle (72,2%.Conclusion:Thesituational leadership style appliebythe headof nursingsectionwasdominantlyconsultingleadershipstyle.

  14. Role of maternal gesture use in speech use by children with fragile X syndrome.

    Science.gov (United States)

    Hahn, Laura J; Zimmer, B Jean; Brady, Nancy C; Swinburne Romine, Rebecca E; Fleming, Kandace K

    2014-05-01

    The purpose of this study was to investigate how maternal gesture relates to speech production by children with fragile X syndrome (FXS). Participants were 27 young children with FXS (23 boys, 4 girls) and their mothers. Videotaped home observations were conducted between the ages of 25 and 37 months (toddler period) and again between the ages of 60 and 71 months (child period). The videos were later coded for types of maternal utterances and maternal gestures that preceded child speech productions. Children were also assessed with the Mullen Scales of Early Learning at both ages. Maternal gesture use in the toddler period was positively related to expressive language scores at both age periods and was related to receptive language scores in the child period. Maternal proximal pointing, in comparison to other gestures, evoked more speech responses from children during the mother-child interactions, particularly when combined with wh-questions. This study adds to the growing body of research on the importance of contextual variables, such as maternal gestures, in child language development. Parental gesture use may be an easily added ingredient to parent-focused early language intervention programs.

  15. Down's syndrome in South Africa - incidence, maternal age and ...

    African Journals Online (AJOL)

    Down's syndrome (DS) is the most common chromosomal cause of mental retardation, and amniocentesis is the most significant factor affecting its prevalence. In South Africa, prenatal cytogenetic diagnoses have been available for just over a decade and the utilisation and effect of this procedure in the white population ...

  16. Maternal and paternal pragmatic speech directed to young children with Down syndrome and typical development.

    Science.gov (United States)

    de Falco, Simona; Venuti, Paola; Esposito, Gianluca; Bornstein, Marc H

    2011-02-01

    The aim of this study was to compare functional features of maternal and paternal speech directed to children with Down syndrome and developmental age-matched typically developing children. Altogether 88 parents (44 mothers and 44 fathers) and their 44 young children (22 children with Down syndrome and 22 typically developing children) participated. Parents' speech directed to children was obtained through observation of naturalistic parent-child dyadic interactions. Verbatim transcripts of maternal and paternal language were categorized in terms of the primary function of each speech unit. Parents (both mothers and fathers) of children with Down syndrome used more affect-salient speech compared to parents of typically developing children. Although parents used the same amounts of information-salient speech, parents of children with Down syndrome used more direct statements and asked fewer questions than did parents of typically developing children. Concerning parent gender, in both groups mothers used more language than fathers and specifically more descriptions. These findings held controlling for child age and MLU and family SES. This study highlights strengths and weaknesses of parental communication to children with Down syndrome and helps to identify areas of potential improvement through intervention. Copyright © 2010 Elsevier Inc. All rights reserved.

  17. Genetic Syndromes, Maternal Diseases and Antenatal Factors Associated with Autism Spectrum Disorders (ASD).

    Science.gov (United States)

    Ornoy, Asher; Weinstein-Fudim, Liza; Ergaz, Zivanit

    2016-01-01

    Autism spectrum disorder (ASD) affecting about 1% of all children is associated, in addition to complex genetic factors, with a variety of prenatal, perinatal, and postnatal etiologies. In addition, ASD is often an important clinical presentation of some well-known genetic syndromes in human. We discuss these syndromes as well as the role of the more important prenatal factors affecting the fetus throughout pregnancy which may also be associated with ASD. Among the genetic disorders we find Fragile X, Rett syndrome, tuberous sclerosis, Timothy syndrome, Phelan-McDermid syndrome, Hamartoma tumor syndrome, Prader-Willi and Angelman syndromes, and a few others. Among the maternal diseases in pregnancy associated with ASD are diabetes mellitus (PGDM and/or GDM), some maternal autoimmune diseases like antiphospholipid syndrome (APLS) with anti-β2GP1 IgG antibodies and thyroid disease with anti-thyroid peroxidase (TPO) antibodies, preeclampsia and some other autoimmune diseases with IgG antibodies that might affect fetal brain development. Other related factors are maternal infections (rubella and CMV with fetal brain injuries, and possibly Influenza with fever), prolonged fever and maternal inflammation, especially with changes in a variety of inflammatory cytokines and antibodies that cross the placenta and affect the fetal brain. Among the drugs are valproic acid, thalidomide, misoprostol, and possibly SSRIs. β2-adrenergic receptor agonists and paracetamol have also lately been associated with increased rate of ASD but the data is too preliminary and inconclusive. Associations were also described with ethanol, cocaine, and possibly heavy metals, heavy smoking, and folic acid deficiency. Recent studies show that heavy exposure to pesticides and air pollution, especially particulate matter ASD. Finally, we have to remember that many of the associations mentioned in this review are only partially proven, and not all are "clean" of different confounding factors. The

  18. Successful Pregnancy Outcome In Maternal Crigler Najjar Syndrome Type II

    Directory of Open Access Journals (Sweden)

    Shakuntala PN

    2012-10-01

    Full Text Available Estimated incidence of Crigler-Najjar syndrome(CNS is 1 case per 1,000,000 births(1 million. The overall prevalence of CN syndrome is unknown, with only several hundred people reported to have this disease. It is interestingly very rare to encounter a pregnant adult women with congenital jaundice. Pregnancy in CN type II patients is a diagnostic and a therapeutic challenge because of the high risk of bilirubin encephalopathy with serious neurological damage as life-threatening complications for the fetus. To date 8 pregnancy outcome have been reported from 5 women and we report the6 woman with a successful 9 th pregnancy outcome. We have discussed detail history, presentation and management during pregnancy and care of the new born.

  19. Maternal and foetal outcome in hellp syndrome at tertiary care hospital

    International Nuclear Information System (INIS)

    Sadaf, N.; Haq, G.; Din, S.S.U.

    2013-01-01

    Objective: To determine maternal and foetal outcome in patients of Haemolysis, Elevated Liver enzyme and Low Platelet Cont syndrome. Methods: The descriptive case series was conducted at the Gynae Unit II of Civil Hospital, Karachi, over a period of 12 months in two episodes; first from December 28, 2006, to February 28, 2007, and then from September 1, 2007, to June 30, 2008. It comprised 40 consecutive women with pre-ecampsia and eclampsia along with altered platelet count who met the syndrome criteria. A pre-designed proforma was administered for data collection. Maternal and foetal outcomes were noted. SPSS 10 was used for statistical analysis. Result: Among the 40 mothers, cesarean section was the most common outcome (n=24; 60%). Pulmonary oedema was found in 2 (5%) cases, acute renal failure in 10 (25%), disseminated intravascular coagulation in 6 (15%), and abruptio placenta in 5 (12.5%). Intrauterine growth restriction as a foetal outcome was observed in 18 (45%) cases. Pre-term birth was the result in 20 (50%) cases, and perinatal mortality was high (n=23; 57.5%). Conclusion: Management and delivery of HELLP syndrome patients should be performed at tertiary care centres, where highly trained obstetrician, neonatal intensive care unit personnel and Multi-disciplinary facilities are available. Correct diagnosis and timely intervention can decrease the risk of maternal and perinatal mortality. (author)

  20. First-trimester maternal serum human thyroid-stimulating hormone in chromosomally normal and Down syndrome pregnancies

    NARCIS (Netherlands)

    Pratt, JJ; de Wolf, BTHM; Mantingh, A

    Maternal serum human thyroid-stimulating hormone (TSH) levels were investigated in chromosomally normal and Down syndrome pregnancies to determine whether TSH can be used as a marker for Down syndrome in the first trimester. Measurements were conducted on stored serum samples collected from 23 Down

  1. Maternal Polycystic Ovary Syndrome and Risk for Attention-Deficit/Hyperactivity Disorder in the Offspring.

    Science.gov (United States)

    Kosidou, Kyriaki; Dalman, Christina; Widman, Linnea; Arver, Stefan; Lee, Brian K; Magnusson, Cecilia; Gardner, Renee M

    2017-11-01

    Attention-deficit/hyperactivity disorder (ADHD) is the most common childhood neurodevelopmental disorder, and boys are two to three times more likely to develop ADHD. Maternal polycystic ovary syndrome (PCOS), a common metabolic disorder associated with excess circulating androgens, has been associated with increased risk for autism spectrum disorder in the offspring. In this study, we aimed to investigate whether maternal PCOS increases the risk for ADHD in the offspring. We conducted a matched case-control study using health and population data registers for all children born in Sweden from 1984 to 2008. Maternal PCOS was defined by ICD-coded register diagnosis. The outcome of ADHD was defined as an ICD-coded register diagnosis of ADHD and/or registered prescription of medications to treat ADHD. A total of 58,912 ADHD cases (68.8% male) were identified and matched to 499,998 unaffected controls by sex and birth month and year. Maternal PCOS increased the odds of offspring ADHD by 42% after adjustment for confounders (odds ratio [OR], 1.42; 95% confidence interval [CI], 1.26-1.58). Exclusion of ADHD cases with comorbid autism spectrum disorder attenuated but did not explain the relationship (OR, 1.34; 95% CI, 1.18-1.52). The risk was somewhat elevated for ADHD with comorbid autism spectrum disorder (OR, 1.76; 95% CI, 1.37-2.26). The risk for ADHD was higher among obese mothers with PCOS (OR, 1.68; 95% CI, 1.31-2.17) and was highest among obese mothers with PCOS and other features of metabolic syndrome (OR, 2.59; 95% CI, 1.02-6.58). This study provides evidence that maternal PCOS may subtly influence the neurodevelopment of the offspring, resulting in increased risk for neurodevelopmental disorders such as ADHD. Copyright © 2016 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  2. The influence of parental food preference and neophobia on children with phenylketonuria (PKU

    Directory of Open Access Journals (Sweden)

    Sharon Evans

    2018-03-01

    Conclusions: In PKU, parental food choices and their food neophobia have limited influence on their children's eating habits. Food neophobia in children with PKU may be associated with fear of eating unfamiliar foods potentially containing a source of protein or aspartame. Their preference for sweet foods may be influenced by limited food choices and habitual consumption of artificially sweetened L-amino acid supplements.

  3. Maternal Choline Supplementation: A Potential Prenatal Treatment for Down Syndrome and Alzheimer's Disease.

    Science.gov (United States)

    Strupp, Barbara J; Powers, Brian E; Velazquez, Ramon; Ash, Jessica A; Kelley, Christy M; Alldred, Melissa J; Strawderman, Myla; Caudill, Marie A; Mufson, Elliott J; Ginsberg, Stephen D

    2016-01-01

    Although Down syndrome (DS) can be diagnosed prenatally, currently there are no effective treatments to lessen the intellectual disability (ID) which is a hallmark of this disorder. Furthermore, starting as early as the third decade of life, DS individuals exhibit the neuropathological hallmarks of Alzheimer's disease (AD) with subsequent dementia, adding substantial emotional and financial burden to their families and society at large. A potential therapeutic strategy emerging from the study of trisomic mouse models of DS is to supplement the maternal diet with additional choline during pregnancy and lactation. Studies demonstrate that maternal choline supplementation (MCS) markedly improves spatial cognition and attentional function, as well as normalizes adult hippocampal neurogenesis and offers protection to basal forebrain cholinergic neurons (BFCNs) in the Ts65Dn mouse model of DS. These effects on neurogenesis and BFCNs correlate significantly with spatial cognition, suggesting functional relationships. In this review, we highlight some of these provocative findings, which suggest that supplementing the maternal diet with additional choline may serve as an effective and safe prenatal strategy for improving cognitive, affective, and neural functioning in DS. In light of growing evidence that all pregnancies would benefit from increased maternal choline intake, this type of recommendation could be given to all pregnant women, thereby providing a very early intervention for individuals with DS, and include babies born to mothers unaware that they are carrying a fetus with DS.

  4. Severe hypertensive syndrome – descriptive study with adolescents attended at a maternity school

    Directory of Open Access Journals (Sweden)

    Andreia Gregório Lima

    2012-06-01

    Full Text Available This is an exploratory and descriptive study with the objective of analyzing the clinical and obstetric data related to the severe hypertensive disorders in adolescents assisted at a maternity school of Recife. The population was consisted of 186 pregnant adolescents with severe preeclampsia and/or eclampsia between 2003 and 2008. The age ranged between 15 and 19 years; they were black, single and had low education. Most of them were primiparas but the pregnancy recurrence was configured at 16% of cases. They did six or more prenatal consultations. The pregnancy progressed to term and the most frequent type of delivery was cesarean section. The comorbidities identified were changes in amniotic fluid volume, hemorrhages and infections. There were also identified cases of intrauterine growth retardation, prematurity, jaundice, hypoxia and low birth weight. It was concluded that teenage pregnancy associated with severe hypertensive syndrome is related to severe maternal, fetal and neonatal complications.

  5. Cerebral biochemical abnormalities in experimental maternal phenylketonuria: gangliosides and sialoglycoproteins

    International Nuclear Information System (INIS)

    Loo, Y.H.; Hyde, K.R.; Lin, F.H.; Wisniewski, H.M.

    1985-01-01

    The present study sought a biochemical explanation for retarded brain development in the heterozygous offspring of the phenylketonuric (PKU) mother. Two rat models of simulated maternal PKU, one induced by p-chloropheylalanine and phenylalanine and the other by phenylacetate, were employed in this investigation. Maternal PKU had no influence on cerebral concentrations of DNA, protein, and cholesterol, which were normal in the 2 d old pup. However, there was a noticeable disruption of the normal ganglioside pattern and a significant reduction of sialoglycoproteins. Concomitant with a delayed drop in the gangliosides Q/sub 1b/ and D 3 , was a slower rise in M 1 and D/sub 1a/. At least 66% of sialoglycoproteins located on SDS-PAGE gel chromatograms, by radioactivity incorporated in vivo from radiolabeled N-acetylmannosamine and by ( 3 H) sialic acid released by neuraminidase from periodate-( 3 H) borohydride labeled glycoproteins, have mobilites of the cell adhesion molecules N-CAM and D-CAM. Whether the reduction of the sialogylcoproteins induced by maternal PKU is mainly in these cell adhesion molecules requires further investigation. Interference with the function of gangliosides and certain sialoglycoproteins during cerebral development may contribute to the brain dysfunction observed in the offspring of PKU mothers not on diet control during pregnancy. 49 references, 2 figures, 3 tables

  6. Prenatal Maternal Smoking and Increased Risk for Tourette Syndrome and Chronic Tic Disorders.

    Science.gov (United States)

    Browne, Heidi A; Modabbernia, Amirhossein; Buxbaum, Joseph D; Hansen, Stefan N; Schendel, Diana E; Parner, Erik T; Reichenberg, Abraham; Grice, Dorothy E

    2016-09-01

    We assessed the role of prenatal maternal smoking in risk for Tourette syndrome and chronic tic disorder (TS/CT) and pediatric-onset obsessive-compulsive disorder (OCD). In an analysis of 73,073 singleton pregnancies from the Danish National Birth Cohort, we calculated incidence rates (IR) per 1,000 person-year for TS/CT and OCD. We then determined crude and adjusted hazard ratios and 95% CIs associated with prenatal maternal smoking, considering smoking as a dichotomous (yes/no) variable or a stratified variable (no smoking, light smoking, and heavy smoking [≥10 cigarettes/day]). Additional analyses examined the effect of maternal smoking on risk for TS/CT with other comorbid psychiatric conditions. In final adjusted analyses, heavy smoking was associated with a 66% increased risk for TS/CT (adjusted hazard ratio = 1.66, 95% CI = 1.17-2.35). In addition, heavy smoking was associated with a 2-fold increased risk for TS/CT with comorbid attention-deficit/hyperactivity disorder (ADHD), and both light and heavy smoking were associated with a more than 2-fold increased risk for TS/CT with any non-ADHD psychiatric comorbidity. Our parallel analyses of pediatric-onset OCD were likely underpowered but showed similar relationships. Prenatal maternal smoking was associated with increased risk for TS/CT as well as TS/CT with comorbid psychiatric conditions, even after adjustment for several important variables, including maternal psychiatric history, socioeconomic status, and partner smoking. Our findings point to a pathway linking prenatal tobacco exposure and altered brain development to TS/CT. Copyright © 2016 American Academy of Child and Adolescent Psychiatry. Published by Elsevier Inc. All rights reserved.

  7. Surfactant therapy for maternal blood aspiration: an unusual cause of neonatal respiratory distress syndrome.

    Science.gov (United States)

    Celik, Istemi Han; Demirel, Gamze; Canpolat, Fuat Emre; Erdeve, Omer; Dilmen, Ugur

    2012-10-01

    Surfactant replacement therapy is the main treatment of neonatal respiratory distress syndrome. However, surfactant therapy has been shown to be effective in the treatment of other diseases causing neonatal respiratory diseases such as pulmonary hemorrhage, meconium aspiration syndrome, pneumonia/sepsis, pulmonary edema or acute lung injury resulting a secondary surfactant deficiency (SSD). Rarely, as like as in the present patient, exogenous blood aspiration such as breast milk or formula aspiration may lead to SSD. Blood in alveolus leads to a significant biochemical and functional disturbance of the surfactant system and inhibits surfactant production. Here, the authors report a preterm infant of 33 wk gestational age with secondary surfactant deficiency due to maternal blood aspiration because of abruptio placentae. She was received two courses of beractant, a natural bovine surfactant, therapy in 24 h. She was extubated on second day and did not require oxygen on 4(th) day. To the authors' knowledge, this is the first reported case of SSD due to maternal blood aspiration treated with surfactant. In conditions such as abruptio placentae, infant should be protected from blood aspiration and if respiratory distress occurs, surfactant inhibition and need for surfactant administration should be considered.

  8. Maternal discipline of children with Asperger Syndrome and nonverbal learning disorders.

    Science.gov (United States)

    Little, Liza

    2002-01-01

    This study investigated how often mothers of children with Asperger Syndrome and nonverbal learning disorders reported using either psychological aggression (shouting, cursing, name calling) or corporal punishment (spanking, hitting) when disciplining their children, and also examined the correlates of these methods of discipline. A descriptive study of 41l mothers with children between ages 4 and 17 years. Mothers were recruited by placing an invitation on two national Web sites; one for parents of children with Asperger syndrome and one for parents of children with nonverbal learning disabilities. An anonymous, mailed survey was used and a 70% response rate was obtained. The Conflict Tactics Scale-Child Form was used to measure psychological aggression and corporal punishment. Univariate analyses were used to describe the child and maternal characteristics and maternal rates of discipline. The correlates of maternal discipline were measured using bivariate analyses. The overall reported use of any corporal punishment (slaps on the hand, arm, and leg; hitting on the buttocks with a belt or brush; spanking on the buttocks with a hand; pinching and shaking) during the past year was 58%. The yearly use of any psychological aggression (screaming and yelling, cursing, threatening to hit or spank, threatening to kick out or send away, calling the child "dumb" or "lazy") was 95%. Spanking declined with increasing age of the child and the mother. Mothers who used psychological aggression were more likely to use corporal punishment with their child. Informed nurses working with these populations can use the results of this study to help address the stresses felt by these mothers, and to teach alternative strategies of coping to mothers who are in danger of using psychological aggression and corporal punishment.

  9. Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.

    Science.gov (United States)

    Jahja, Rianne; Huijbregts, Stephan C J; de Sonneville, Leo M J; van der Meere, Jaap J; Bosch, Annet M; Hollak, Carla E M; Rubio-Gozalbo, M Estela; Brouwers, Martijn C G J; Hofstede, Floris C; de Vries, Maaike C; Janssen, Mirian C H; van der Ploeg, Ans T; Langendonk, Janneke G; van Spronsen, Francjan J

    2013-01-01

    This article presents a new Dutch multicenter study ("PKU-COBESO") into cognitive and behavioral sequelae of early and continuously treated Phenylketonuria (PKU) patients. Part of the study sample will consist of young adult PKU patients who have participated in a large neuropsychological study approximately 10 years ago, when they were 7-to-15-year-olds (Huijbregts et al., 2002 [1]). Their neurocognitive development will be mapped in association with their earlier and continued metabolic history, taking into account possible changes in, for instance, medication. A second part of the sample will consist of PKU patients between the ages of 7 and approximately 40 years (i.e., born in or after 1974, when neonatal screening was introduced in The Netherlands), who have not participated in the earlier neuropsychological study. Again, their cognitive functioning will be related to their metabolic history. With respect to aspects of cognition, there will be an emphasis on executive functioning. The concept of executive functioning will however be extended with further emphasis on the impact of cognitive deficits on the daily lives of PKU patients, aspects of social cognition, social functioning, and behavior/mental health (i.e., COgnition, BEhavior, SOcial functioning: COBESO). In addition to a description of the PKU-COBESO study, some preliminary results with respect to mental health and social functioning will be presented in this article. Thirty adult PKU patients (mean age 27.8, SD 6.4) and 23 PKU patients under the age of 18 years (mean age 11.0, SD 3.3) were compared to 14 (mean age 26.9 years, SD 5.9) and 7 matched controls (mean age 10.5, SD 2.6) respectively, with respect to their scores on the Adult Self-Report or Child Behavior Checklist (measuring mental health problems) and the Social Skills Checklist or Social Skills Rating System (measuring social skills). Whereas there were very few significant group differences (except for mental health problems in the

  10. Analisis Strategi Pemasaran Produk Laparoscopy di Rumah Sakit PKU Muhammadiyah YOGYAKARTA

    OpenAIRE

    Mudayana, Ahmad Ahid

    2010-01-01

    Background : Complexity of hospital marketing strategy that have social function needed research to analyses marketing strategy have been applied by PKU Muhammadiyah Yogyakarta hospital, especially to promote Laparoscopy Product. Marketing strategy of the segmentation, targeting and positioning. The aim of the research to analyses marketing strategy of PKU Muhammadiyah Yogyakarta to promote Laparoscopy product.Method : This was descriptive research using qualitative method. The subject was di...

  11. Prenatal management and perinatal outcome in giant placental chorioangioma complicated with hydrops fetalis, fetal anemia and maternal mirror syndrome

    Directory of Open Access Journals (Sweden)

    García-Díaz Lutgardo

    2012-07-01

    Full Text Available Abstract Background Giant placental chorioangiomas have been associated with a number of severe fetal complications and high perinatal mortality. Case presentation We report a case of giant chorioangioma with fetal hydrops, additionally complicated by severe anemia, mild cardiomegaly with hyperdinamic heart circulation and maternal mirror syndrome. Intrauterine blood transfusion and amniodrainage was performed at 29 weeks. Worsening of the fetal and maternal condition prompted us to proceed with delivery at 29 + 5 weeks. The newborn died 3 hours later due to pulmonary hypoplasia and hemodynamic failure. Maternal course was favourable, mirror syndrome resolved in the second day and the patient was discharged four days following delivery. Conclusions In the case described here, fetal condition got worse despite of the anemia correction and amniodrainage. Our outcome raises the issue whether additional intrauterine clinical intervention, as intersticial laser, should have been performed to stop further deterioration of the fetal condition when progressive severe hydrops develops.

  12. Chilean model for long-term follow-up of phenylketonuria (PKU

    Directory of Open Access Journals (Sweden)

    Verónica Cornejo

    2014-07-01

    Full Text Available Chilean newborn screening program began in 1984 through of a covenant between the National Ministry of Health and the Chilean University through its Institute of Nutrition and Food Technology (INTA with the aim of implementing a pilot study for neonatal detection of phenylketonuria (PKU in Santiago’s central area. In 1989 a program for neonatal diagnosis of PKU and congenital hypothyroidism (HC was initiated by INTA along with Santiago´s occidental health ministry rural area, which covered 20% of newborn population. PKU and HC had an incidence of 1:14,640 and 1:2000 living newborns respectively. These findings allowed the establishment of a favorable cost/benefit ratio which validated the implementation of a program with National character. In 1992 the Chilean Ministry of Health ruled the initiation of PKU and HC newborn screening program and by 1998 the coverage across the country was achieved. INTA is the National Reference Center for confirmation and long term treatment for PKU and HC patients. A follow-up program consists of medical, nutritional, neurological and psychological outcome evaluations as well as periodic biochemical testing in order to guarantee normal patient growth and development. To date 184 children have been diagnosed with classic or moderate PKU, all of them follow a strict monitoring program.

  13. Maternal risk factors in fetal alcohol syndrome: provocative and permissive influences.

    Science.gov (United States)

    Abel, E L; Hannigan, J H

    1995-01-01

    We present an hypothesis integrating epidemiological, clinical case, and basic biomedical research to explain why only relatively few women who drink alcohol during pregnancy give birth to children with alcohol-related birth defects (ARBDs), in particular, Fetal Alcohol Syndrome (FAS). We argue that specific sociobehavioral risk factors, e.g., low socioeconomic status, are permissive for FAS in that they provide the context for increased vulnerability. We illustrate how these permissive factors are related to biological factors, e.g., decreased antioxidant status, which in conjunction with alcohol, provoke FAS/ARBDs in vulnerable fetuses. We propose an integrative heuristic model hypothesizing that these permissive and provocative factors increase the likelihood of FAS/ARBDs because they potentiate two related mechanisms of alcohol-induced teratogenesis, specifically, maternal/fetal hypoxia and free radical formation.

  14. Unexpected Maternal Convulsion: An Idiopathic Case of Posterior Reversible Encephalopathy Syndrome after Delivery

    Directory of Open Access Journals (Sweden)

    Jila Agah

    2016-01-01

    Full Text Available Posterior reversible encephalopathy syndrome (PRES is associated with various clinical manifestations such as headache, blurred vision, confusion and tonic-clonic convulsion. Some of the predisposing factors for PRES include hypertensive encephalopathy, preeclampsia and eclampsia, lupus erythematosus, thrombotic thrombocytopenic purpura and long-term use of immunosuppressive drugs. This condition rarely occurs after normotensive and uneventful pregnancies. Several theories have been proposed on the etiology of PRES. For instance, endothelial injury and brain edema have been reported as possible causes of PRES. Although PRES is a temporary condition, proper and timely management of the disorder in the acute phase is critical for the prevention of permanent neurological complications. During pregnancy, PRES is normally accompanied with hypertension. In this paper, we present a rare case of PRES in a normotensive pregnancy in a 25-year-old parturient woman (Gravida 2, Ab 1. The patient unexpectedly manifested symptoms of tonic-clonic convulsion one hour after an uneventful vaginal delivery, which were successfully managed. According to our observations, PRES has various clinical manifestations with unexpected occurrence in some cases. Therefore, it is recommended that maternity centers be well-equipped with resuscitation tools, emergency drugs and expert staff so as to manage unforeseen PRES efficiently and prevent permanent maternal neurological complications and mortality.

  15. Maternal MTHFR polymorphism (677 C-T) and risk of Down's syndrome child: meta-analysis.

    Science.gov (United States)

    Kaur, Amandeep; Kaur, Anupam

    2016-09-01

    Methylenetetrahydrofolate reductase (MTHFR) is the most important gene that participates in folate metabolism. Presence of valine instead of alanine at position 677 and elevated levels of homocystein causes DNA hypomethylation which in turn favours nondisjunction. In this study, we conducted a meta-analysis to establish link between maternal single-nucleotide polymorphism (SNP) and birth of Down's syndrome (DS) child. A total of 37 case-control studies were selected for analysis including our own, in which we investigated 110 cases and 111 control mothers. Overall, the result of meta-analysis showed significant risk of DS affected by the presence of maternal SNP (MTHFR 677 C-T OR = 0.816, 95% CI = 0.741-0.900, P <0.0001). Heterogeneity of high magnitude was observed among the studies. The chi-square value suggested a highly significant association between homozygous mutant TT genotype and birth of DS child (χ² = 23.63, P = 0.000). Genetic models suggested that 'T' allele possesses high risk for DS whether present in dominant (OR = 1.23, 95% CI = 1.13-1.34); codominant (OR = 1.17, 95% CI = 1.10-1.25) or recessive (OR = 1.21, 95% CI = 1.05-1.38) form. The analysis from all 37 studies combined together suggested that MTHFR 677 C-T is a major risk factor for DS birth.

  16. Maternal risk factors for fetal alcohol syndrome and partial fetal alcohol syndrome in South Africa: a third study.

    Science.gov (United States)

    May, Philip A; Gossage, J Phillip; Marais, Anna-Susan; Hendricks, Loretta S; Snell, Cudore L; Tabachnick, Barbara G; Stellavato, Chandra; Buckley, David G; Brooke, Lesley E; Viljoen, Denis L

    2008-05-01

    This is a third exploration of risk factors for the two most severe forms of fetal alcohol spectrum disorders (FASD), fetal alcohol syndrome (FAS) and Partial FAS (PFAS), in a South African community with the highest reported prevalence of FAS in the world. In a case control design, interview and collateral data concerning mothers of 72 first grade children with FAS or PFAS are compared with 134 randomly selected maternal controls of children from the same schools. Significant differences were found between the mothers of FASD children and controls in socio-economic status, educational attainment, and a higher prevalence of FASD among rural residents. The birth order of the index children, gravidity, and still birth were significantly higher among mothers of FASD children. Mothers of children with a FASD are less likely to be married and more likely to have a male partner who drank during the index pregnancy. Current and gestational alcohol use by mothers of FASD children is bingeing on weekends, with no reduction in drinking reported in any trimester in 75 to 90% of the pregnancies that resulted in an FAS child or during 50 to 87% of PFAS-producing pregnancies. There was significantly less drinking among the controls in the second and third trimesters (11 to 14%). Estimated peak blood alcohol concentrations (BAC)s of the mothers of PFAS children range from 0.155 in the first trimester to 0.102 in the third, and for mothers of FAS children the range is from 0.197 to 0.200 to 0.191 in the first, second, and third. Smoking percentage during pregnancy was significantly higher for mothers of FASD children (82 to 84%) than controls (35%); but average quantity smoked is low in the 3 groups at 30 to 41 cigarettes per week. A relatively young average age of the mother at the time of FAS and PFAS births (28.8 and 24.8 years respectively) is not explained by early onset of regular drinking (mean = 20.3 to 20.5 years of age). But the mean years of alcohol consumption is

  17. 1H MR chemical shift imaging detection of phenylalanine in patients suffering from phenylketonuria (PKU)

    International Nuclear Information System (INIS)

    Sijens, Paul E.; Oudkerk, Matthijs; Reijngoud, Dirk-Jan; Spronsen, Francjan J. van; Leenders, Klaas L.; Valk, Harold W. de

    2004-01-01

    Short echo time single voxel methods were used in previous MR spectroscopy studies of phenylalanine (Phe) levels in phenylketonuria (PKU) patients. In this study, apparent T 2 relaxation time of the 7.3-ppm Phe multiplet signal in the brain of PKU patients was assessed in order to establish which echo time would be optimal. 1 H chemical shift imaging (CSI) examinations of a transverse plain above the ventricles of the brain were performed in 10 PKU patients and 11 persons not suffering from PKU at 1.5 T, using four echo times (TE 20, 40, 135 and 270 ms). Phe was detectable only when the signals from all CSI voxels were summarized. In patients suffering from PKU the T 2 relaxation times of choline, creatine and N-acetyl aspartate (NAA) were similar to those previously reported for healthy volunteers (between 200 and 325 ms). The T 2 of Phe in brain tissue was 215±120 ms (standard deviation). In the PKU patients the brain tissue Phe concentrations were 141±69 μM as opposed to 58±23 μM in the persons not suffering from PKU. In the detection of Phe, MR spectroscopy performed at TE 135 or 270 ms is not inferior to that performed at TE 20 or 40 ms (all previous studies). Best results were obtained at TE=135 ms, relating to the fact that at that particular TE, the visibility of a compound with a T 2 of 215 ms still is good, while interfering signals from short-TE compounds are negligible. (orig.)

  18. {sup 1}H MR chemical shift imaging detection of phenylalanine in patients suffering from phenylketonuria (PKU)

    Energy Technology Data Exchange (ETDEWEB)

    Sijens, Paul E.; Oudkerk, Matthijs [University Hospital Groningen, Department of Radiology, Hanzeplein 1, P.O. Box 30001, Groningen (Netherlands); Reijngoud, Dirk-Jan; Spronsen, Francjan J. van [University Hospital Groningen, Department of Pediatrics, Groningen (Netherlands); Leenders, Klaas L. [University Hospital Groningen, Department of Neurology, Groningen (Netherlands); Valk, Harold W. de [University Medical Centre of Utrecht, Department of Internal Medicine, Utrecht (Netherlands)

    2004-10-01

    Short echo time single voxel methods were used in previous MR spectroscopy studies of phenylalanine (Phe) levels in phenylketonuria (PKU) patients. In this study, apparent T{sub 2} relaxation time of the 7.3-ppm Phe multiplet signal in the brain of PKU patients was assessed in order to establish which echo time would be optimal. {sup 1}H chemical shift imaging (CSI) examinations of a transverse plain above the ventricles of the brain were performed in 10 PKU patients and 11 persons not suffering from PKU at 1.5 T, using four echo times (TE 20, 40, 135 and 270 ms). Phe was detectable only when the signals from all CSI voxels were summarized. In patients suffering from PKU the T{sub 2} relaxation times of choline, creatine and N-acetyl aspartate (NAA) were similar to those previously reported for healthy volunteers (between 200 and 325 ms). The T{sub 2} of Phe in brain tissue was 215{+-}120 ms (standard deviation). In the PKU patients the brain tissue Phe concentrations were 141{+-}69 {mu}M as opposed to 58{+-}23 {mu}M in the persons not suffering from PKU. In the detection of Phe, MR spectroscopy performed at TE 135 or 270 ms is not inferior to that performed at TE 20 or 40 ms (all previous studies). Best results were obtained at TE=135 ms, relating to the fact that at that particular TE, the visibility of a compound with a T{sub 2} of 215 ms still is good, while interfering signals from short-TE compounds are negligible. (orig.)

  19. Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU)

    Science.gov (United States)

    Harding, Cary O.; Winn, Shelley R.; Gibson, K. Michael; Arning, Erland; Bottiglieri, Teodoro; Grompe, Markus

    2014-01-01

    Summary Monoamine neurotransmitter deficiency has been implicated in the etiology of neuropsychiatric symptoms associated with chronic hyperphenylalaninemia in phenylketonuria (PKU). Two proposed explanations for neurotransmitter deficiency in PKU include first, that chronically elevated blood L-phenylalanine (Phe) inhibits the transport of L-tyrosine (Tyr) and L-tryptophan (Trp), the substrates for dopamine and serotonin synthesis respectively, into brain. In the second hypothesis, elevated Phe competitively inhibits brain tyrosine hydroxylase (TH) and tryptophan hydroxylase (TPH) activities, the rate limiting steps in dopamine and serotonin synthesis. Dietary supplementation with large neutral amino acids (LNAA) including Tyr and Trp has been recommended for individuals with chronically elevated blood Phe in an attempt to restore amino acid and monoamine homeostasis in brain. As a potential alternative treatment approach, we demonstrate that pharmacologic inhibition of Tyr degradation through oral administration of nitisinone (NTBC) yielded sustained increases in blood and brain Tyr, decreased blood and brain Phe, and consequently increased dopamine synthesis in a murine model of PKU. Our results suggest that Phe-mediated inhibition of TH activity is the likely mechanism of impaired dopamine synthesis in PKU. Pharmacologic inhibition of Tyr degradation may be a promising adjunct therapy for CNS monoamine neurotransmitter deficiency in hyperphenylalaninemic individuals with PKU. PMID:24487571

  20. INCREASED MATERNAL SERUM ALPHA-FETOPROTEIN AND HUMAN CHORIONIC-GONADOTROPIN IN COMPROMISED PREGNANCIES OTHER THAN FOR NEURAL-TUBE DEFECTS OR DOWN-SYNDROME

    NARCIS (Netherlands)

    BEEKHUIS, [No Value; VANLITH, JMM; DEWOLF, BTHM; MANTINGH, A

    Intrauterine fetal death occurred in four women who were 'screen-positive' in a screening programme for neural tube defects (NTDs) and Down syndrome (DS). These women had very high levels of maternal serum alpha-fetoprotein (MSAFP) and maternal serum human chorionic gonadotropin (MShCG). Therefore,

  1. Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array.

    Science.gov (United States)

    Izumi, Kosuke; Santani, Avni B; Deardorff, Matthew A; Feret, Holly A; Tischler, Tanya; Thiel, Brian D; Mulchandani, Surabhi; Stolle, Catherine A; Spinner, Nancy B; Zackai, Elaine H; Conlin, Laura K

    2013-01-01

    Prader-Willi syndrome is caused by the loss of paternal gene expression on 15q11.2-q13.2, and one of the mechanisms resulting in Prader-Willi syndrome phenotype is maternal uniparental disomy of chromosome 15. Various mechanisms including trisomy rescue, monosomy rescue, and post fertilization errors can lead to uniparental disomy, and its mechanism can be inferred from the pattern of uniparental hetero and isodisomy. Detection of a mosaic cell line provides a unique opportunity to understand the mechanism of uniparental disomy; however, mosaic uniparental disomy is a rare finding in patients with Prader-Willi syndrome. We report on two infants with Prader-Willi syndrome caused by mosaic maternal uniparental disomy 15. Patient 1 has mosaic uniparental isodisomy of the entire chromosome 15, and Patient 2 has mosaic uniparental mixed iso/heterodisomy 15. Genome-wide single-nucleotide polymorphism array was able to demonstrate the presence of chromosomally normal cell line in the Patient 1 and trisomic cell line in Patient 2, and provide the evidence that post-fertilization error and trisomy rescue as a mechanism of uniparental disomy in each case, respectively. Given its ability of detecting small percent mosaicism as well as its capability of identifying the loss of heterozygosity of chromosomal regions, genome-wide single-nucleotide polymorphism array should be utilized as an adjunct to the standard methylation analysis in the evaluation of Prader-Willi syndrome. Copyright © 2012 Wiley Periodicals, Inc.

  2. [Maternal and fetal outcomes with aortic dissection in pregnant patients with Marfan syndrome].

    Science.gov (United States)

    Yang, Puyu; Zhang, Jun; Li, Yanna; Wang, Hui; Zheng, Jun

    2015-05-01

    To evaluate the clinical characteristics of aortic dissection in pregnant patients with Marfan syndrome and the maternal and fetal outcomes in cardiovascular surgery. Seven pregnant women with Marfan syndrome with aortic dissection were identified, who were treated in Beijing Anzhen Hospital Affiliated to Capital Medical University between January 2012 and September 2014. Patient charts were reviewed for cardiovascular surgery, occurrence of complications, clinical features and the maternal and fetal outcomes. (1) Among 7 patients, 4 cases were diagnosed as type A aortic dissection and 3 were cases diagnosed as type B aortic dissection. The diagnosis mainly depends on CT angiography. New York Heart Association (NYHA) classify into 5 of level II, 1 of level III, 1 of leveI IV. Except for 1 patient with cardiac tamponade lead to heart failure, the remaining 6 cases had no complications. (2) Three patients underwent heart surgery with cardiopulmonary bypass in second trimester and two patients underwent heart surgery in third trimester. Two patients terminated pregnancy before heart surgery (one of whom underwent artificial abortion, one of whom underwent cesarean section in second trimester). (3) The methods of cardiovascular surgeries were as follow: 3 of Bentall+Sun', 1 of Bentall+Sun'+ right coronary artery bypass grafting, 1 of Bentall, 1 of the whole chest aorta replacement surgery, and 1 of femoral artery catheter chest aorta with membrane mesh stent implantation. The diameter of aortic roots measured during operation were 5 cm in 2 cases, 7 cm in 2 cases and 10 cm in 2 cases respectively. Among the 7 cases, 3 were conducted cesarean sections during cardiovascular surgery, 1 was terminated pregnancy due to intrauterine fetal death after cardiovascular surgery, and 1 was conducted cesarean section due to severe early-onset preeclampsia at 30 weeks of pregnancy after cardiovascular surgery. (4) Among the 7 cases, 3 were conducted cesarean sections during

  3. Social-cognitive functioning and social skills in patients with early treated phenylketonuria : a PKU-COBESO study

    NARCIS (Netherlands)

    Jahja, Rianne; van Spronsen, Francinus; de Sonneville, Leonardus; van der Meere, Jacob; Huijbregts, S; Bosch, Annet M.; Hollak, Carla E. M.; Rubio-Gozalbo, M. Estela; Brouwers, Martijn C. G. J.; Hofstede, Floris C.; de Vries, Maaike C.; Janssen, Mirian C. H.; van der Ploeg, Ans T.; Langendonk, Janneke G.

    OBJECTIVE: Early treatment of phenylketonuria (ET-PKU) prevents mental retardation, but many patients still show cognitive and mood problems. In this study, it was investigated whether ET-PKU-patients have specific phenylalanine (Phe-)related problems with respect to social-cognitive functioning and

  4. Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study

    NARCIS (Netherlands)

    Jahja, Rianne; van Spronsen, Francjan J.; de Sonneville, Leo M. J.; van der Meere, Jaap J.; Bosch, Annet M.; Hollak, Carla E. M.; Rubio-Gozalbo, M. Estela; Brouwers, Martijn C. G. J.; Hofstede, Floris C.; de Vries, Maaike C.; Janssen, Mirian C. H.; van der Ploeg, Ans T.; Langendonk, Janneke G.; Huijbregts, Stephan C. J.

    2016-01-01

    Early treatment of phenylketonuria (ET-PKU) prevents mental retardation, but many patients still show cognitive and mood problems. In this study, it was investigated whether ET-PKU-patients have specific phenylalanine (Phe-)related problems with respect to social-cognitive functioning and social

  5. Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study

    NARCIS (Netherlands)

    R. Jahja (Rianne); F.J. van Spronsen; L.M.J. de Sonneville (Leo); J.J. van der Meere (J.); A.M. Bosch (Annet); C.E.M. Hollak (Carla); M.E. Rubio-Gozalbo (Estela); M.C.G.J. Brouwers (M. C G J); F.C. Hofstede (Floris); M. de Vries (Maaike); M.C.H. Janssen (Mirian); A.T. van der Ploeg (Ans); J.G. Langendonk (Janneke); S.C.J. Huijbregts (Stephan C.J.)

    2017-01-01

    textabstractCognitive and mental health problems in individuals with the inherited metabolic disorder phenylketonuria (PKU) have often been associated with metabolic control and its history. For the present study executive functioning (EF) was assessed in 21 PKU patients during childhood (T1, mean

  6. Hepatitis virus protein X-Phenylalanine Hydroxylase fusion proteins identified in PKU mice treated with AAV-WPRE vectors

    Science.gov (United States)

    Utilizing the Pahenu2 mouse model for phenylketonuria (PKU), we developed an improved expression vector containing the Woodchuck Hepatitis Virus post-transcriptional regulatory element inserted into a rAAV-mPAH construct (rAAV-mPAH-WPRE) for treatment of PKU. Following portal vein delivery of these ...

  7. Salivary serotonin does not correlate with central serotonin turnover in adult phenylketonuria (PKU patients

    Directory of Open Access Journals (Sweden)

    Joseph Leung

    2018-06-01

    Full Text Available Introduction: Phenylketonuria (PKU is an inborn error of metabolism associated with an increased risk of behavioural and mood disorders. There are currently no reliable markers for monitoring mood in PKU. The purpose of this study was to evaluate salivary serotonin as a possible non-invasive marker of long-term mood symptoms and central serotonin activity in patients with PKU. Methods: 20 patients were recruited from our Adult Metabolic Diseases Clinic. Age, sex, plasma phenylalanine (Phe level, DASS (Depression Anxiety Stress Scales depression score, DASS anxiety score, BMI, salivary serotonin, salivary cortisol, 2-year average Phe, 2-year average tyrosine (Tyr, and 2-year average Phe:Tyr ratio were collected for each patient. Spearman's ρ correlation analysis was used to determine if there was any relationship between any of the parameters. Results: There were positive correlations between DASS anxiety and DASS depression scores (Spearman's ρ = 0.8708, p-value < 0.0001, BMI and plasma Phe level (Spearman's ρ = 0.6228, p-value = .0034, and 2-year average Phe and BMI (Spearman's ρ = 0.5448, p-value = .0130. There was also a negative correlation between salivary cortisol and plasma Phe level (Spearman's ρ = −0.5018, p-value = .0338. All other correlations were not statistically significant. Conclusion: Salivary serotonin does not correlate with peripheral phenylalanine levels, DASS depression scale scores, or DASS anxiety scale scores, implying that salivary serotonin does not reflect central serotonin turnover. Additionally, this study suggests that salivary serotonin is not a suitable marker for monitoring dietary control, mood, or anxiety in PKU. Synopsis: Salivary serotonin does not correlate with peripheral phenylalanine levels, DASS depression scale scores, or DASS anxiety scale scores, suggesting that salivary serotonin is not a suitable marker for monitoring dietary control, mood, or anxiety in PKU

  8. Current thoughts on maternal nutrition and fetal programming of the metabolic syndrome.

    Science.gov (United States)

    Brenseke, Bonnie; Prater, M Renee; Bahamonde, Javiera; Gutierrez, J Claudio

    2013-01-01

    Chronic diseases such as type 2 diabetes and cardiovascular disease are the leading cause of death and disability worldwide. Although the metabolic syndrome has been defined in various ways, the ultimate importance of recognizing this combination of disorders is that it helps identify individuals at high risk for both type 2 diabetes and cardiovascular disease. Evidence from observational and experimental studies links adverse exposures in early life, particularly relating to nutrition, to chronic disease susceptibility in adulthood. Such studies provide the foundation and framework for the relatively new field of developmental origins of health and disease (DOHaD). Although great strides have been made in identifying the putative concepts and mechanisms relating specific exposures in early life to the risk of developing chronic diseases in adulthood, a complete picture remains obscure. To date, the main focus of the field has been on perinatal undernutrition and specific nutrient deficiencies; however, the current global health crisis of overweight and obesity demands that perinatal overnutrition and specific nutrient excesses be examined. This paper assembles current thoughts on the concepts and mechanisms behind the DOHaD as they relate to maternal nutrition, and highlights specific contributions made by macro- and micronutrients.

  9. Current Thoughts on Maternal Nutrition and Fetal Programming of the Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Bonnie Brenseke

    2013-01-01

    Full Text Available Chronic diseases such as type 2 diabetes and cardiovascular disease are the leading cause of death and disability worldwide. Although the metabolic syndrome has been defined in various ways, the ultimate importance of recognizing this combination of disorders is that it helps identify individuals at high risk for both type 2 diabetes and cardiovascular disease. Evidence from observational and experimental studies links adverse exposures in early life, particularly relating to nutrition, to chronic disease susceptibility in adulthood. Such studies provide the foundation and framework for the relatively new field of developmental origins of health and disease (DOHaD. Although great strides have been made in identifying the putative concepts and mechanisms relating specific exposures in early life to the risk of developing chronic diseases in adulthood, a complete picture remains obscure. To date, the main focus of the field has been on perinatal undernutrition and specific nutrient deficiencies; however, the current global health crisis of overweight and obesity demands that perinatal overnutrition and specific nutrient excesses be examined. This paper assembles current thoughts on the concepts and mechanisms behind the DOHaD as they relate to maternal nutrition, and highlights specific contributions made by macro- and micronutrients.

  10. Cardiovascular causes of maternal sudden death. Sudden arrhythmic death syndrome is leading cause in UK.

    Science.gov (United States)

    Krexi, Dimitra; Sheppard, Mary N

    2017-05-01

    This study aims to determine the causes of sudden cardiac death during pregnancy and in the postpartum period and patients' characteristics. There are few studies in the literature. Eighty cases of sudden unexpected death due to cardiac causes in relation to pregnancy and postpartum period in a database of 4678 patients were found and examined macroscopically and microscopically. The mean age was 30±7 years with a range from 16 to 43 years. About 30% were 35 years old or older; 50% of deaths occurred during pregnancy and 50% during the postpartum period. About 59.18% were obese or overweight where body mass index data were available. The leading causes of death were sudden arrhythmic death syndrome (SADS) (53.75%) and cardiomyopathies (13.80%). Other causes include dissection of aorta or its branches (8.75%), congenital heart disease (2.50%) and valvular disease (3.75%). This study highlights sudden cardiac death in pregnancy or in the postpartum period, which is mainly due to SADS with underlying channelopathies and cardiomyopathy. We wish to raise awareness of these frequently under-recognised entities in maternal deaths and the need of cardiological screening of the family as a result of the diagnosis. Copyright © 2017 Elsevier B.V. All rights reserved.

  11. Metabolic syndrome in Spanish adolescents and its association with birth weight, breastfeeding duration, maternal smoking, and maternal obesity: a cross-sectional study.

    Science.gov (United States)

    González-Jiménez, Emilio; Montero-Alonso, Miguel A; Schmidt-RioValle, Jacqueline; García-García, Carmen J; Padez, Cristina

    2015-06-01

    The metabolic syndrome (MetS) in adolescents is a growing problem. The objectives were to verify the association among early predictors such as birth weight, breastfeeding, maternal weight status, smoking during pregnancy, and the development of MetS. A cross-sectional study was performed of 976 children and adolescents, 10-15 years of age, at schools in the provinces of Granada and Almeria (Spain). For this purpose, we analyzed the physical characteristics as well as the biochemical markers of the participants with a view to ascertaining the prevalence of the MetS. Relevant data were also extracted from the clinical histories of their mothers. It was found that 3.85% of the female subjects and 5.38% of the male subjects in the sample population suffered from MetS. In both sexes, there was an association between birth weight and positive MetS diagnosis (OR 1.27). For both males and females, there was an inverse association between the length of time that they had been breastfed and positive MetS diagnosis (OR1-3 months 3.16; OR4-6 months 1.70; OR(>6 months) 0.13). There was also a significant association between maternal weight (OR(overweight )30.79; OR(obesity) 49.36) and cigarette consumption during pregnancy (OR 1.47) and the subsequent development of MetS in the children of these mothers. Those subjects born with a higher than average birth weight had a greater risk of developing MetS in childhood and adolescence. Breastfeeding children for longer than 6 months protected them from MetS in their early years as well as in their teens. Other risk factors for MetS were maternal smoking during pregnancy as well as maternal overweight and obesity.

  12. Prevalence of Fetal Alcohol Syndrome and Maternal Characteristics in a Sample of Schoolchildren from a Rural Province of Croatia

    Directory of Open Access Journals (Sweden)

    Ingeborg Barišić

    2013-04-01

    Full Text Available Fetal alcohol syndrome (FAS is a congenital syndrome caused by maternal alcohol consumption during pregnancy and is entirely preventable by abstinence from alcohol drinking during this time. Little is known about the prevalence of FAS and maternal alcohol consumption during pregnancy in Western countries. We present the results of FAS/partial fetal alcohol syndrome (PFAS prevalence study and maternal characteristics in a sample of schoolchildren from a rural province of Croatia. This study involved seven elementary schools with 1,110 enrolled children attending 1st to 4th grade and their mothers. We used an active case ascertainment method with passive parental consent and Clarified IOM criteria. The investigation protocol involved maternal data collection and clinical examination of children. Out of 1,110 mothers, 917 (82.6% answered the questionnaire. Alcohol exposure during pregnancy was admitted by 11.5%, regular drinking by 4.0% and binge drinking by 1.4% of questioned mothers. Clinical examination involved 824 (74.2% schoolchildren and disclosed 14 (1.7% with clinical signs of FAS and 41 (5.0% of PFAS. The observed FAS prevalence, based on 74.2% participation rate, was 16.9, PFAS 49.7 and combined prevalence was 66.7/1,000 examined schoolchildren. This is the first FAS prevalence study based on active ascertainment among schoolchildren and pregnancy alcohol drinking analysis performed in a rural community of Croatia and Europe. High prevalence of FAS/PFAS and pregnancy alcohol consumption observed in this study revealed that FAS is serious health problem in rural regions as well as a need to develop future studies and preventive measures for pregnancy alcohol drinking and FASD.

  13. Prevalence of Fetal Alcohol Syndrome and Maternal Characteristics in a Sample of Schoolchildren from a Rural Province of Croatia

    Science.gov (United States)

    Petković, Giorgie; Barišić, Ingeborg

    2013-01-01

    Fetal alcohol syndrome (FAS) is a congenital syndrome caused by maternal alcohol consumption during pregnancy and is entirely preventable by abstinence from alcohol drinking during this time. Little is known about the prevalence of FAS and maternal alcohol consumption during pregnancy in Western countries. We present the results of FAS/partial fetal alcohol syndrome (PFAS) prevalence study and maternal characteristics in a sample of schoolchildren from a rural province of Croatia. This study involved seven elementary schools with 1,110 enrolled children attending 1st to 4th grade and their mothers. We used an active case ascertainment method with passive parental consent and Clarified IOM criteria. The investigation protocol involved maternal data collection and clinical examination of children. Out of 1,110 mothers, 917 (82.6%) answered the questionnaire. Alcohol exposure during pregnancy was admitted by 11.5%, regular drinking by 4.0% and binge drinking by 1.4% of questioned mothers. Clinical examination involved 824 (74.2%) schoolchildren and disclosed 14 (1.7%) with clinical signs of FAS and 41 (5.0%) of PFAS. The observed FAS prevalence, based on 74.2% participation rate, was 16.9, PFAS 49.7 and combined prevalence was 66.7/1,000 examined schoolchildren. This is the first FAS prevalence study based on active ascertainment among schoolchildren and pregnancy alcohol drinking analysis performed in a rural community of Croatia and Europe. High prevalence of FAS/PFAS and pregnancy alcohol consumption observed in this study revealed that FAS is serious health problem in rural regions as well as a need to develop future studies and preventive measures for pregnancy alcohol drinking and FASD. PMID:23591786

  14. Education of Students with Phenylketonuria (PKU): Information for Teachers, Administrators and Other School Personnel.

    Science.gov (United States)

    National Inst. of Child Health and Human Development (NIH), Bethesda, MD.

    This booklet summarizes current knowledge about phenylketonuria (PKU), an inherited condition that results in severe mental retardation if untreated, and discusses the psychoeducational implications of the condition. The introduction stresses the importance of early diagnosis (during the first days of life) and the effectiveness of a diet that…

  15. PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population

    Directory of Open Access Journals (Sweden)

    Zhen-Wen Wang

    2018-02-01

    Full Text Available Phenylketonuria (PKU is a common autosomal recessive disorder of phenylalanine metabolism and mainly results a deficiency of phenylalanine hydroxylase gene (PAH. The incidence of various PAH mutations have race and ethnicity differences. We report a spectrum of PAH mutations complied from 35 PKU children who are all Chinese Han population from north Jiangsu in this study. All 13 exons and their flanking intron sequences of PAH were determined by Ion Torrent PGM™ sequencing. The relationship of genotype and phenotype was analyzed based on the sum of the arbitrary value (AV values of the two alleles. We identified 61 mutations, with a frequency of 87.14%, among 70 alleles of 35 patients. The most prevalent mutations were R243Q (26.23%, R241C (9.84% and V399V (8.20%. Furthermore, the consistency between prediction of the biochemical phenotype and the observed phenotype was 81.25%, with the highest consistency observed in classic PKU (87.50%. A significant correlation was found between pretreatment levels of phenylalanine and AV sum (r = −0.87, P < 0.05. Finally, our study constructs PAH mutation spectrum by next generation sequencing (NGS, and reveals that the PAH genotypes and biochemical phenotypes were significantly correlated. These offers facilitate the provision of appropriate genetic counseling for PKU patients.

  16. PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population.

    Science.gov (United States)

    Wang, Zhen-Wen; Jiang, Shi-Wen; Zhou, Bao-Cheng

    2018-02-01

    Phenylketonuria (PKU) is a common autosomal recessive disorder of phenylalanine metabolism and mainly results a deficiency of phenylalanine hydroxylase gene (PAH). The incidence of various PAH mutations have race and ethnicity differences. We report a spectrum of PAH mutations complied from 35 PKU children who are all Chinese Han population from north Jiangsu in this study. All 13 exons and their flanking intron sequences of PAH were determined by Ion Torrent PGM™ sequencing. The relationship of genotype and phenotype was analyzed based on the sum of the arbitrary value (AV) values of the two alleles. We identified 61 mutations, with a frequency of 87.14%, among 70 alleles of 35 patients. The most prevalent mutations were R243Q (26.23%), R241C (9.84%) and V399V (8.20%). Furthermore, the consistency between prediction of the biochemical phenotype and the observed phenotype was 81.25%, with the highest consistency observed in classic PKU (87.50%). A significant correlation was found between pretreatment levels of phenylalanine and AV sum (r = -0.87, P PAH mutation spectrum by next generation sequencing (NGS), and reveals that the PAH genotypes and biochemical phenotypes were significantly correlated. These offers facilitate the provision of appropriate genetic counseling for PKU patients. Copyright © 2017. Published by Elsevier Taiwan.

  17. Institutionalizing China's Research University through Academic Mobility: The Case of PKU

    Science.gov (United States)

    Xiaoguang, Shi

    2015-01-01

    Academic mobility is becoming a tread in academic life and a professional development globally, regionally and nationally. This article makes use of a case university--Peking University (PKU)--as an analytical approach to explore how and why academic mobility can happen in China's research universities. The author first presents an overview of the…

  18. Breeding a PKU-mouse model on Phe-free diet, is it possible?

    DEFF Research Database (Denmark)

    Dagnæs-Hansen, Frederik; Johansen, Karen Singers; Vorup-Jensen, Thomas

    2014-01-01

    The PKU-mouse model mutated in the PAH gene was developed in the 1990s in the laboratory of Dr. Alexandra Shedlovsky at the McArdle Laboratory for Cancer Research, University of Wisconsin. The mutation was generated by ENU (N-ethyl-N-nitrosourea) treatment of BTBR males. Several mutation was found...

  19. PKU: High plasma phenylalanine concentrations are associated with increased prevalence of mood swings

    NARCIS (Netherlands)

    Anjema, K.; Rijn, M. van; Verkerk, P.H.; Burgerhof, J.G.M.; Heiner-Fokkema, M.R.; Spronsen, F.J. van

    2011-01-01

    In phenylketonuria, knowledge about the relation between behavior and plasma phenylalanine is scarce. The aim of this study was to determine whether high phenylalanine is associated with disturbed behavior noticed by the patient and or close environment (parents or partners). 48 early treated PKU

  20. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy

    Energy Technology Data Exchange (ETDEWEB)

    Cassidy, S.B.; Lai, Li-Wen; Erickson, R.P. (Univ. of Arizona College of Medicine, Tucson, AZ (United States)); Magnuson, L.; Thomas, E.; Herrmann, J. (Great Lakes Genetics, Milwaukee, AZ (United States)); Gendron, R. (Great Lakes Genetics, Kingsport, TN (United States))

    1992-10-01

    Uniparental disomy has recently been recognized to cause human disorders, including Prader-Willi syndrome (PWS). The authors describe a particularly instructive case which raises important issues concerning the mechanisms producing uniparental disomy and whose evaluation provides evidence that trisomy may precede uniparental disomy in a fetus. Chorionic villus sampling performed for advanced maternal age revealed trisomy 15 in all direct and cultured cells, though the fetus appeared normal. Chromosome analysis of amniocytes obtained at 15 wk was normal in over 100 cells studied. The child was hypotonic at birth, and high-resolution banding failed to reveal the deletion of 15q11-13, a deletion which is found in 50%-70% of patients with PWS. Over time, typical features of PWS developed. Molecular genetic analysis using probes for chromosome 15 revealed maternal disomy. Maternal nondisjunction with fertilization of a disomic egg by a normal sperm, followed by loss of the paternal 15, is a likely cause of confined placental mosaicism and uniparental disomy in this case of PWS, and advanced maternal age may be a predisposing factor. 38 refs., 3 figs., 2 tabs.

  1. "MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Jonkers Cora F

    2011-06-01

    Full Text Available Abstract Background Phenylketonuria (PKU is an autosomal recessive disorder of phenylalanine metabolism. The inability to convert phenylalanine (Phe into tyrosine causes Phe to accumulate in the body. Adherence to a protein restricted diet, resulting in reduced Phe levels, is essential to prevent cognitive decline. Frequent evaluation of plasma Phe levels and, if necessary, adjustment of the diet are the mainstay of treatment. We aimed to assess whether increased self-management of PKU patients and/or their parents is feasible and safe, by providing direct online access to blood Phe values without immediate professional guidance. Methods Thirty-eight patients aged ≥ 1 year participated in a 10 month randomized controlled trial. Patients were randomized into a study group (1 or a control group (2. Group 2 continued the usual procedure: a phone call or e-mail by a dietician in case of a deviant Phe value. Group 1 was given a personal "My PKU" web page with a graph of their recent and previous Phe values, online general information about the dietary treatment and the Dutch PKU follow-up guidelines, and a message-box to contact their dietician if necessary. Phe values were provided on "My PKU" without advice. Outcome measures were: differences in mean Phe value, percentage of values above the recommended range and Phe sample frequency, between a 10-month pre-study period and the study period in each group, and between the groups in both periods. Furthermore we assessed satisfaction of patients and/or parents with the 'My PKU' procedure of online availability. Results There were no significant differences in mean Phe value, percentage of values above recommended range or in frequency of blood spot sampling for Phe determination between the pre-study period and the study period in each group, nor between the 2 groups during the periods. All patients and/or parents expressed a high level of satisfaction with the new way of disease management

  2. Infection and acute respiratory distress syndrome during pregnancy: a case series of preventable maternal deaths from southern India.

    Science.gov (United States)

    Vasudeva, Akhila; Bhat, Rajeshwari G; Ramachandran, Amar; Kumar, Pratap

    2013-02-01

    Acute respiratory distress syndrome (ARDS) is common among women admitted to obstetric intensive care units, and it contributes significantly, both directly and indirectly, to maternal deaths. We present a case series of ARDS in pregnant women caused by non-obstetric causes. The women were treated at a tertiary hospital in southern India. The striking features were delayed referral from the primary care unit and the lack of a primary diagnosis or treatment. Undiagnosed rheumatic heart disease, anemia, and malaria and H1N1 epidemics contributed to these cases of ARDS and maternal death. It is necessary to increase the awareness of evidence-based uniform protocols to tackle common medical complaints during pregnancy. Copyright © 2012 King Saud Bin Abdulaziz University for Health Sciences. Published by Elsevier Ltd. All rights reserved.

  3. Consequences of low birth weight, maternal illiteracy and poor access to medical care in rural India: infantile iatrogenic Cushing syndrome

    OpenAIRE

    Karande, Sunil

    2015-01-01

    Home delivery, low birth weight babies and maternal illiteracy among the poor in rural India are frequent. The rural poor prefer to seek healthcare from private providers, most of whom have no formal medical training and buy medicines from private pharmacies without a prescription owing to a weakly regulated environment. This report is of a 4-month-old baby from a remote village in northern India, who presented with exogenous Cushing syndrome. This baby was a full-term low birth weight home d...

  4. No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome

    DEFF Research Database (Denmark)

    Boonen, Susanne E; Hahnemann, Johanne M D; Mackay, Deborah

    2012-01-01

    in patients with BWS. We sequenced ZFP57 in 27 BWS probands and in 23 available mothers to test for a maternal effect. We identified three novel, presumably benign sequence variants in ZFP57; thus, we found no evidence for ZFP57 alterations as a major cause in sporadic BWS cases.......Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome, which, in 50-60% of sporadic cases, is caused by hypomethylation of KCNQ1OT1 differentially methylated region (DMR) at chromosome 11p15.5. The underlying defect of this hypomethylation is largely unknown. Recently, recessive mutations...... of the ZFP57 gene were reported in patients with transient neonatal diabetes mellitus type 1, showing hypomethylation at multiple imprinted loci, including KCNQ1OT1 DMR in some. The aim of our study was to determine whether ZFP57 alterations were a genetic cause of the hypomethylation at KCNQ1OT1 DMR...

  5. Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (IV

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2008-06-01

    Full Text Available Fetuses with neural tube defects (NTDs may be associated with maternal and fetal risk factors. This article provides a comprehensive review of maternal and fetal risk factors associated with NTDs, such as infertility, periconceptional clomiphene use and assisted reproductive technology, periconceptional folic acid deficiency and effects offolic acid supplementation and fortification on NTD rates, periconceptional vitamin B1 2 deficiency, single nucleotide polymorphisms and polymorphisms in genes of folate metabolism, and maternal autoantibodies to folate receptors. NTDs associated with maternal and fetal risk factors are an important cause of NTDs. Perinatal identification of NTDs should alert the clinician to the maternal and fetal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling. [Taiwan J Obstet Cynecol 2008;47(2:141-1 50

  6. Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma

    Directory of Open Access Journals (Sweden)

    Gekas J

    2014-07-01

    Full Text Available Jean Gekas,1,2 Sylvie Langlois,3 Vardit Ravitsky,4 François Audibert,5 David-Gradus van den Berg,6 Hazar Haidar,4 François Rousseau2,71Prenatal Diagnosis Unit, Department of Medical Genetics and Pediatrics, Faculty of Medicine, Laval University, Québec City, Quebec, Canada; 2Department of Medical Biology, Centre Hospitalier Universitaire de Québec, Québec City, Quebec, Canada; 3Department of Medical Genetics, University of British Columbia, Vancouver, Canada; 4Bioethics Program, Department of Social and Preventive Medicine, School of Public Health, University of Montreal, Montreal, Canada; 5Department of Obstetrics and Gynecology, Sainte Justine Hospital, Montreal, Canada; 6Department of Social and Preventive Medicine, 7Department of Molecular Biology, Medical Biochemistry and Pathology, Faculty of Medicine, Laval University, Québec City, Quebec, CanadaAbstract: Current prenatal diagnosis for fetal aneuploidies (including trisomy 21 [T21] generally relies on an initial biochemical serum-based noninvasive prenatal testing (NIPT after which women who are deemed to be at high risk are offered an invasive confirmatory test (amniocentesis or chorionic villi sampling for a fetal karyotype, which is associated with a risk of fetal miscarriage. Recently, genomics-based NIPT (gNIPT was proposed for the analysis of fetal genomic DNA circulating in maternal blood. The diffusion of this technology in routine prenatal care could be a major breakthrough in prenatal diagnosis, since initial research studies suggest that this novel approach could be very effective and could reduce substantially the number of invasive procedures. However, the limitations of gNIPT may be underappreciated. In this review, we examine currently published literature on gNIPT to highlight advantages and limitations. At this time, the performance of gNIPT is relatively well-documented only in high-risk pregnancies for T21 and trisomy 18. This additional screening test may be an

  7. Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.

    Science.gov (United States)

    Zilina, Olga; Kahre, Tiina; Talvik, Inga; Oiglane-Shlik, Eve; Tillmann, Vallo; Ounap, Katrin

    2014-01-01

    Prader-Willi syndrome (PWS) is caused by the lack of paternal expression of imprinted genes in the human chromosomal region 15q11.2-q13.2, which can be due to an interstitial deletion at 15q11.2-q13 of paternal origin (65-75%), maternal uniparental disomy (matUPD) of chromosome 15 (20-30%), or an imprinting defect (1-3%). The majority of PWS-associated matUPD15 cases represent a complete heterodisomy of chromosome 15 or a mixture of hetero- and isodisomic regions across the chromosome 15. Pure maternal isodisomy is observed in only a few matUPD15 patients. Here we report a case of an 18-year-old boy with some clinical features of Prader-Willi syndrome, such as overweight, muscular hypotonia, facial dysmorphism and psychiatric problems, but there was no reason to suspect PWS in the patient based solely on the phenotype estimation. However, chromosomal microarray analysis (CMA) revealed mosaic loss of heterozygosity of the entire chromosome 15. Methylation-specific multiplex ligation-dependant probe amplification (MS-MLPA) analysis showed hypermethylation of the SNRPN and NDN genes in the PWS/AS critical region of chromosome 15 in this patient. Taking into consideration the MS-MLPA results and the presence of PWS features in the patient, we concluded that it was matUPD15, although the patient's parents were not enrolled in the study. According to CMA and karyotyping, no trisomic or monosomic cells were present. To the best of our knowledge, only two PWS cases with mosaic maternal isodisomy 15 and without trisomic/monosomic cell lines have been reported so far. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  8. Syndromes, Disorders and Maternal Risk Factors Associated with Neural Tube Defects (IV)

    OpenAIRE

    Chen, Chih-Ping

    2008-01-01

    Fetuses with neural tube defects (NTDs) may be associated with maternal and fetal risk factors. This article provides a comprehensive review of maternal and fetal risk factors associated with NTDs, such as infertility, periconceptional clomiphene use and assisted reproductive technology, periconceptional folic acid deficiency and effects offolic acid supplementation and fortification on NTD rates, periconceptional vitamin B1 2 deficiency, single nucleotide polymorphisms and polymorphisms in g...

  9. [Good's syndrome and congenital toxoplasmosis due to maternal reactivation during pregnancy].

    Science.gov (United States)

    Tahiri, J; Fouyssac, F; Morel, O; Maatouk, A

    2017-05-01

    Good syndrome is a rare condition in which thymoma is associated with hypogammaglobulinemia. It is characterized by an increased susceptibility to infections. We report a woman with Good's syndrome diagnosed after severe congenital toxoplasmosis in her daughter, even though she was immunized against this infection during pregnancy. This presentation is very unusual by its early diagnosis and to our knowledge is the first report of parasitic infection in this syndrome. Copyright © 2016. Published by Elsevier SAS.

  10. Epidemiology and clinical study of phenylketonuria (PKU patients in Khorasan Province; Norteast Iran

    Directory of Open Access Journals (Sweden)

    Negar Morovatdar

    2015-03-01

    Full Text Available Epidemiology and clinical study of phenylketonuria (PKU patients in Khorasan Province; Norteast Iran Background: Phenylketonuria is an autosomal recessive disease. Early diagnosis is a important public health intervention to prevent neurological impairment .This study was designed to describe characteristics of phenylketonouria patients in Khorasan ,Northeast of Iran. Methods: We included all  patients suffering from PKU in khorasan until September 2013. We gathered the variables like diagnosis age , sib of parents, cause of asking physician and screening based diagnosis or clinical based diagnosis. We use descriptive statistics for analysis. Results: The mean age of diagnosis was 19 months .80% pku patients had a positive history of consanguineous marriage in their parents. Incidence of new cases that identified by screening in 2012-2013 was 57 per 1000000 live birth. 10% patients identified with screening in first week of birth. Conclusion: Nearly all of our patients (90% had been diagnosed without screening in the first days of their life only due to clinical manifestations in the first year of their life . According to efficacy of early diagnosis and dietary treatment, enforcement of public health policy for screening is a critical public health preventive intervention.

  11. Improvements of PKU PMECRIS for continuous hundred hours CW proton beam operation

    International Nuclear Information System (INIS)

    Peng, S. X.; Ren, H. T.; Zhang, T.; Zhang, J. F.; Xu, Y.; Guo, Z. Y.; Zhang, A. L.; Chen, J. E.

    2016-01-01

    In order to improve the source stability, a long term continuous wave (CW) proton beam experiment has been carried out with Peking University compact permanent magnet 2.45 GHz ECR ion source (PKU PMECRIS). Before such an experiment a lot of improvements and modifications were completed on the source body, the Faraday cup and the PKU ion source test bench. At the beginning of 2015, a continuous operation of PKU PMECRIS for 306 h with more than 50 mA CW beam was carried out after success of many short term tests. No plasma generator failure or high voltage breakdown was observed during that running period and the proton source reliability is near 100%. Total beam availability, which is defined as 35-keV beam-on time divided by elapsed time, was higher than 99% [S. X. Peng et al., Chin. Phys. B 24(7), 075203 (2015)]. A re-inspection was performed after another additional 100 h operation (counting time) and no obvious sign of component failure was observed. Counting the previous source testing time together, this PMECRs longevity is now demonstrated to be greater than 460 h. This paper is mainly concentrated on the improvements for this long term experiment

  12. Improvements of PKU PMECRIS for continuous hundred hours CW proton beam operation

    Science.gov (United States)

    Peng, S. X.; Zhang, A. L.; Ren, H. T.; Zhang, T.; Zhang, J. F.; Xu, Y.; Guo, Z. Y.; Chen, J. E.

    2016-02-01

    In order to improve the source stability, a long term continuous wave (CW) proton beam experiment has been carried out with Peking University compact permanent magnet 2.45 GHz ECR ion source (PKU PMECRIS). Before such an experiment a lot of improvements and modifications were completed on the source body, the Faraday cup and the PKU ion source test bench. At the beginning of 2015, a continuous operation of PKU PMECRIS for 306 h with more than 50 mA CW beam was carried out after success of many short term tests. No plasma generator failure or high voltage breakdown was observed during that running period and the proton source reliability is near 100%. Total beam availability, which is defined as 35-keV beam-on time divided by elapsed time, was higher than 99% [S. X. Peng et al., Chin. Phys. B 24(7), 075203 (2015)]. A re-inspection was performed after another additional 100 h operation (counting time) and no obvious sign of component failure was observed. Counting the previous source testing time together, this PMECRs longevity is now demonstrated to be greater than 460 h. This paper is mainly concentrated on the improvements for this long term experiment.

  13. Distribution of the PKU mutation 165T in Spain and Latin America

    Energy Technology Data Exchange (ETDEWEB)

    Perez, B.; deLucca, M.; Desviat, L.R. [UAM-CSIC, Madrid (Spain)] [and others

    1994-09-01

    The 165T mutation is the second most common mutation in the Spanish PKU patients. In order to provide some additional data about the origin of this mutation, we have analyzed 452 PKU alleles from all regions of Spain. The mutation was found in 9% of alleles. We have found a South-North gradient with a highest frequency in the South and the lowest in the North. In the North-West regions (which has the greatest Celtic influence in Spain) the frequency was 7%. The chromosomes bearing this mutation contained the 8 repeat VNTR allele, as has been described in other populations. In view of these results, we suggest an origin other than Celtic for this mutation. On the other hand, we have analyzed 406 PKU alleles from five Latin American countries, 158 from Brazil, 170 from Chile, 56 from Argentina, 14 from Mexico and 8 from Venezuela. Unlike the results of the IVS10 mutation, 165T is present in Latin America with a low frequency. The results show that this mutation is rare in Chile (1%) and is absent in the chromosomes analyzed from Argentina, Mexico and Venezuela. Only in Brazil has this mutation been found in 5% of the alleles. Up to now, Spain is the only Mediterranean country where this mutation is present with a relatively high frequency. This mutation has been detected in the Portuguese patients and would also have migrated to Brazil.

  14. Improvements of PKU PMECRIS for continuous hundred hours CW proton beam operation

    Energy Technology Data Exchange (ETDEWEB)

    Peng, S. X., E-mail: sxpeng@pku.edu.cn; Ren, H. T.; Zhang, T.; Zhang, J. F.; Xu, Y.; Guo, Z. Y. [State Key Laboratory of Nuclear Physics and Technology and Institute of Heavy Ion Physics, School of Physics, Peking University, Beijing 100871 (China); Zhang, A. L.; Chen, J. E. [State Key Laboratory of Nuclear Physics and Technology and Institute of Heavy Ion Physics, School of Physics, Peking University, Beijing 100871 (China); University of Chinese Academy of Sciences, Beijing 100049 (China)

    2016-02-15

    In order to improve the source stability, a long term continuous wave (CW) proton beam experiment has been carried out with Peking University compact permanent magnet 2.45 GHz ECR ion source (PKU PMECRIS). Before such an experiment a lot of improvements and modifications were completed on the source body, the Faraday cup and the PKU ion source test bench. At the beginning of 2015, a continuous operation of PKU PMECRIS for 306 h with more than 50 mA CW beam was carried out after success of many short term tests. No plasma generator failure or high voltage breakdown was observed during that running period and the proton source reliability is near 100%. Total beam availability, which is defined as 35-keV beam-on time divided by elapsed time, was higher than 99% [S. X. Peng et al., Chin. Phys. B 24(7), 075203 (2015)]. A re-inspection was performed after another additional 100 h operation (counting time) and no obvious sign of component failure was observed. Counting the previous source testing time together, this PMECRs longevity is now demonstrated to be greater than 460 h. This paper is mainly concentrated on the improvements for this long term experiment.

  15. Total bile acids in the maternal and fetal compartment in relation to placental ABCG2 expression in preeclamptic pregnancies complicated by HELLP syndrome

    NARCIS (Netherlands)

    Jebbink, Jiska; Veenboer, Geertruda; Boussata, Souad; Keijser, Remco; Kremer, Andreas E.; Elferink, Ronald Oude; van der Post, Joris; Afink, Gijs; Ris-Stalpers, Carrie

    2015-01-01

    To investigate total bile acid (TBA) levels in maternal (MB) and umbilical cord blood (UCB) in normotensive, preeclamptic (PE), and PE pregnancies complicated by hemolysis elevated liver enzymes and low platelets (HELLP) syndrome in the context of ABCG2 placental gene expression levels, a recently

  16. A pilot study: pain, fatigue and stress in maternal relatives of adolescent female psychiatric inpatients assessed for juvenile primary fibromyalgia syndrome.

    Science.gov (United States)

    Lommel, Karen; Bamford, Jaime; Jhavari, Malhar; Martin, Catherine; Crofford, Leslie

    2011-01-01

    This study was designed to assess the presence of pain and impaired functioning in the maternal relatives of adolescent females in an inpatient adolescent psychiatric population. We compared the relatives of adolescents who met the criteria for juvenile primary fibromyalgia syndrome (JPFS) to relatives of adolescents who did not meet the criteria for JPFS. A total of 55 biological maternal relatives of adolescent females admitted to a psychiatric unit were recruited to participate in the study. Participants completed four self-administered questionnaires: Multidimensional Fatigue Inventory, Fibromyalgia Impact Questionnaire, Medical Outcomes Survey (SF36v2), and the EPIFUND Health Survey. The maternal relatives of adolescents who met the criteria for JPFS did not score higher than the maternal relatives of adolescents who did not meet the criteria for JPFS. However, all maternal relatives consistently scored higher on self-reported measures of pain, impaired functioning, fatigue, and fibromyalgia symptoms than the average patient diagnosed with fibromyalgia or a chronic pain syndrome. Mood disorders and pain disorders share genetic risk factors and vulnerability. Future research is needed to further delineate other factors impacting the maternal caregivers' functioning. These could include stress associated with an adolescent child with psychiatric issues severe enough to warrant hospitalization.

  17. Maternal methylenetetrahydrofolate reductase C677T polymorphism and down syndrome risk: a meta-analysis from 34 studies.

    Directory of Open Access Journals (Sweden)

    Vandana Rai

    Full Text Available Methylenetetrahydrofolate reductase (MTHFR is a key enzyme of folate metabolic pathway which catalyzes the irreversible conversion of 5, 10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. 5-methyltetrahydrofolate donates methyl group for the methylation of homocysteine to methionine. Several studies have investigated maternal MTHFR C677T polymorphism as a risk factor for DS, but the results were controversial and inconclusive. To come into a conclusive estimate, authors performed a meta-analysis.A meta-analysis of published case control studies was performed to investigate the association between maternal MTHFR C677T polymorphism and Down syndrome.PubMed, Google Scholar, Elsevier, Springer Link databases were searched to select the eligible case control studies using appropriate keywords. The pooled odds ratio (OR with 95%confidence interval were calculated for risk assessment.Thirty four studies with 3,098 DS case mothers and 4,852 control mothers were included in the present meta-analysis. The pooled OR was estimated under five genetic models and significant association was found between maternal MTHFR 677C>T polymorphism and Down syndrome under four genetic models except recessive model (for T vs. C, OR = 1.26, 95% CI = 1.09-1.46, p = 0.001; for TT vs. CC, OR = 1.49, 95% CI = 1.13-1.97, p = 0.008; for CT vs. CC, OR = 1.29, 95% CI = 1.10-1.51, p = 0.001; for TT+CT vs. CC, OR = 1.35, 95% CI = 1.13-1.60, p = 0.0008; for TT vs. CT+CC, OR = 0.76, 95% CI = 0.60-0.94, p = 0.01.The results of the present meta-analysis support that maternal MTHFR C677T polymorphism is a risk factor for DS- affected pregnancy.

  18. Maternal Sensitivity and Overt Aggression in Young Children with Down Syndrome

    Science.gov (United States)

    Niccols, Alison; Milligan, Karen; Chisholm, Vivienne; Atkinson, Leslie

    2011-01-01

    Children with genetic syndromes offer a unique opportunity to combine genetic and environmental approaches to the study of aggression. Children with genetic syndromes associated with developmental delay are at increased risk for behavior problems, but little is known about risk and resilience factors. In this study, we examined maternal…

  19. Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study.

    Science.gov (United States)

    Jahja, Rianne; van Spronsen, Francjan J; de Sonneville, Leo M J; van der Meere, Jaap J; Bosch, Annet M; Hollak, Carla E M; Rubio-Gozalbo, M Estela; Brouwers, Martijn C G J; Hofstede, Floris C; de Vries, Maaike C; Janssen, Mirian C H; van der Ploeg, Ans T; Langendonk, Janneke G; Huijbregts, Stephan C J

    2016-05-01

    Early treatment of phenylketonuria (ET-PKU) prevents mental retardation, but many patients still show cognitive and mood problems. In this study, it was investigated whether ET-PKU-patients have specific phenylalanine (Phe-)related problems with respect to social-cognitive functioning and social skills. Ninety five PKU-patients (mean age 21.6 ± 10.2 years) and 95 healthy controls (mean age 19.6 ± 8.7 years) were compared on performance of computerized and paper-and-pencil tasks measuring social-cognitive abilities and on parent- and self-reported social skills, using multivariate analyses of variance, and controlling for general cognitive ability (IQ-estimate). Further comparisons were made between patients using tetrahydrobiopterin (BH4, N = 30) and patients not using BH4. Associations with Phe-levels on the day of testing, during childhood, during adolescence and throughout life were examined. PKU-patients showed poorer social-cognitive functioning and reportedly had poorer social skills than controls (regardless of general cognitive abilities). Quality of social-cognitive functioning was negatively related to recent Phe-levels and Phe-levels between 8 and 12 years for adolescents with PKU. Quality of social skills was negatively related to lifetime phenylalanine levels in adult patients, and specifically to Phe-levels between 0 and 7, and between 8 and 12 years. There were no differences with respect to social outcome measures between the BH4 and non-BH4 groups. PKU-patients have Phe-related difficulties with social-cognitive functioning and social skills. Problems seem to be more evident among adolescents and adults with PKU. High Phe-levels during childhood and early adolescence seem to be of greater influence than current and recent Phe-levels for these patients.

  20. Consequences of low birth weight, maternal illiteracy and poor access to medical care in rural India: infantile iatrogenic Cushing syndrome.

    Science.gov (United States)

    Karande, Sunil

    2015-08-21

    Home delivery, low birth weight babies and maternal illiteracy among the poor in rural India are frequent. The rural poor prefer to seek healthcare from private providers, most of whom have no formal medical training and buy medicines from private pharmacies without a prescription owing to a weakly regulated environment. This report is of a 4-month-old baby from a remote village in northern India, who presented with exogenous Cushing syndrome. This baby was a full-term low birth weight home delivery. As the baby was not growing well, treatment was started at 1 month by a private doctor with betamethasone drops The mother on her own volition continued giving the betamethasone drops by buying the medicine over the counter from a private pharmacy. This case highlights the gaps in essential health services in rural India and the steps being taken to improve the situation. 2015 BMJ Publishing Group Ltd.

  1. Maternal Plasma and Amniotic Fluid Chemokines Screening in Fetal Down Syndrome

    Directory of Open Access Journals (Sweden)

    Piotr Laudanski

    2014-01-01

    Full Text Available Objective. Chemokines exert different inflammatory responses which can potentially be related to certain fetal chromosomal abnormalities. The aim of the study was to determine the concentration of selected chemokines in plasma and amniotic fluid of women with fetal Down syndrome. Method. Out of 171 amniocentesis, we had 7 patients with confirmed fetal Down syndrome (15th–18th weeks of gestation. For the purpose of our control, we chose 14 women without confirmed chromosomal aberration. To assess the concentration of chemokines in the blood plasma and amniotic fluid, we used a protein macroarray, which allows the simultaneous determination of 40 chemokines per sample. Results. We showed significant decrease in the concentration of 4 chemokines, HCC-4, IL-28A, IL-31, and MCP-2, and increase in the concentration of CXCL7 (NAP-2 in plasma of women with fetal Down syndrome. Furthermore, we showed decrease in concentration of 3 chemokines, ITAC, MCP-3, MIF, and increase in concentration of 4 chemokines, IP-10, MPIF-1, CXCL7, and 6Ckine, in amniotic fluid of women with fetal Down syndrome. Conclusion. On the basis of our findings, our hypothesis is that the chemokines may play role in the pathogenesis of Down syndrome. Defining their potential as biochemical markers of Down syndrome requires further investigation on larger group of patients.

  2. Maternal Metabolic Syndrome Programs Mitochondrial Dysfunction via Germline Changes across Three Generations

    Directory of Open Access Journals (Sweden)

    Jessica L. Saben

    2016-06-01

    Full Text Available Maternal obesity impairs offspring health, but the responsible mechanisms are not fully established. To address this question, we fed female mice a high-fat/high-sugar diet from before conception until weaning and then followed the outcomes in the next three generations of offspring, all fed a control diet. We observed that female offspring born to obese mothers had impaired peripheral insulin signaling that was associated with mitochondrial dysfunction and altered mitochondrial dynamic and complex proteins in skeletal muscle. This mitochondrial phenotype persisted through the female germline and was passed down to the second and third generations. Our results indicate that maternal programming of metabolic disease can be passed through the female germline and that the transfer of aberrant oocyte mitochondria to subsequent generations may contribute to the increased risk for developing insulin resistance.

  3. Intense beams from gases generated by a permanent magnet ECR ion source at PKU

    Energy Technology Data Exchange (ETDEWEB)

    Ren, H. T.; Chen, J. E. [College of Physical Sciences, Graduate University of Chinese Academy of Sciences, Beijing 100049 (China); SKLNPT, Institute of Heavy Ion Physics, Peking University, Beijing 100871 (China); Peng, S. X.; Lu, P. N.; Yan, S.; Zhou, Q. F.; Zhao, J.; Yuan, Z. X.; Guo, Z. Y. [SKLNPT, Institute of Heavy Ion Physics, Peking University, Beijing 100871 (China)

    2012-02-15

    An electron cyclotron resonance (ECR) ion source is designed for the production of high-current ion beams of various gaseous elements. At the Peking University (PKU), the primary study is focused on developing suitable permanent magnet ECR ion sources (PMECRs) for separated function radio frequency quadrupole (SFRFQ) accelerator and for Peking University Neutron Imaging Facility. Recently, other kinds of high-intensity ion beams are required for new acceleration structure demonstration, simulation of fusion reactor material irradiation, aviation bearing modification, and other applications. So we expanded the ion beam category from O{sup +}, H{sup +}, and D{sup +} to N{sup +}, Ar{sup +}, and He{sup +}. Up to now, about 120 mA of H{sup +}, 83 mA of D{sup +}, 50 mA of O{sup +}, 63 mA of N{sup +}, 70 mA of Ar{sup +}, and 65 mA of He{sup +} extracted at 50 kV through a {phi} 6 mm aperture were produced by the PMECRs at PKU. Their rms emittances are less than 0.2 {pi} mm mrad. Tungsten samples were irradiated by H{sup +} or He{sup +} beam extracted from this ion source and H/He holes and bubbles have been observed on the samples. A method to produce a high intensity H/He mixed beam to study synergistic effect is developed for nuclear material irradiation. To design a He{sup +} beam injector for coupled radio frequency quadruple and SFRFQ cavity, He{sup +} beam transmission experiments were carried out on PKU low energy beam transport test bench and the transmission was less than 50%. It indicated that some electrode modifications must be done to decrease the divergence of He{sup +} beam.

  4. Observational Assessment and Maternal Reports of Motivation in Children and Adolescents with Down Syndrome

    Science.gov (United States)

    Gilmore, Linda; Cuskelly, Monica

    2011-01-01

    Despite a lack of consistent empirical evidence, there has been an ongoing assumption that intellectual disability is associated with reduced levels of motivation. The participants in this study were 33 children with Down syndrome ages 10-15 years and 33 typically developing 3-8-year-old children. Motivation was measured through observational…

  5. Peculiarities of the Inner Maternal Position of Young Child with Down Syndrome

    Science.gov (United States)

    Inevatkina, Svetlana Eugenevna

    2015-01-01

    The article studies the dominant role of the child-mother relationships in the development and formation of personality of the infants and young children with Down syndrome. The article contains the information about the distortion of the child-mother relationships which leads to the different disorders of the mental development of a child. The…

  6. Executive function in adolescents with PKU and their siblings: Associations with biochemistry

    Directory of Open Access Journals (Sweden)

    R. Sharman

    2015-09-01

    Full Text Available Previous research shows consistent and marked executive function impairment in children with early and continuously treated phenylketonuria. This between groups analysis (phenylketonuria group vs sibling controls found no significant differences in executive function (although adolescents with phenylketonuria performed slightly worse than their siblings. Biochemical relationships with executive function were confined to long-term measures of high phenylalanine:tyrosine ratio exposure, as well as tyrosine exposure independent of phenylalanine. This study suggests that early and continuously treated PKU results in non-significant EF differences (compared to siblings, although the influence of long-term exposure to poorer metabolic control is still evident.

  7. The impact of Folate Pathway Polymorphisms Combined to Nutritional Deficiency As a Maternal Predisposition Factor for Down Syndrome

    Directory of Open Access Journals (Sweden)

    C. B. Santos-Rebouças

    2008-01-01

    Full Text Available Polymorphisms in genes encoding folate metabolizing enzymes have been linked to an increased risk of maternal chromosomal nondisjunction in several populations. With the purpose of evaluating this relationship, we compared the frequencies of 677C>T and 1298A>C polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR and 66A>G in the methionine synthase reductase gene (MTRR between 103 young mothers of Down syndrome (DS individuals and 108 control mothers, whose offspring was karyotypically normal, correlating it with an estimative of folate and – related micronutrients levels intake. Maternal and paternal transmission frequencies of MTHFR 677T allele were also examined to access potential parent-of-origin effects. PCR-RFLP for genomic DNA was accomplished and allele/genotype frequencies differences were determined using the x2 test, whereas pattern of transmission of the MTHFR 677 allele was analyzed by transmission disequilibrium test. None of the polymorphisms seemed to be more frequent in case mothers than in controls, either individually or combined. The estimative of nutritional intake revealed that folate consumption median was inadequate in both groups, whereas methionine and zinc consumption medians were significantly greater in control mothers. It suggests that such interaction between genetic profile and environment could predispose this sub group of women to have a DS child. Additional studies focusing the interaction between nutritional intakes, biochemical data and folate pathway polymorphisms are needed to confirm the present results. The possibility of neutralize the biochemical negative effects of folate-related polymorphisms through oral supplementation could provide new targets for DS prevention.

  8. Metabolic syndrome in children and adolescents with phenylketonuria

    Directory of Open Access Journals (Sweden)

    Viviane C. Kanufre

    2015-01-01

    Conclusion: The results of this study suggest that patients with PKU and excess weight are potentially vulnerable to the development of metabolic syndrome. Therefore, it is necessary to conduct clinical and laboratory monitoring, aiming to prevent metabolic changes, as well as excessive weight gain and its consequences, particularly cardiovascular risk.

  9. KEPATUHAN PENGGUNAAN OBAT DAN KUALITAS HIDUP PASIEN HEMODIALISA DI RS PKU MUHAMMADIYAH YOGYAKARTA PERIODE MARET 2015

    Directory of Open Access Journals (Sweden)

    Endah Karuniawati

    2016-11-01

    Full Text Available The adherence holds an important role that can affect the success rate of the therapy and increase the life quality of the patients. Quality of life is an ability to reflect the health in the term of physically, psychology, and socially and the satisfaction of the patients’ functional and control level. Research aims to understand relations compliance treatment with the quality of life can be measured by MMAS and WHOQOL questioners. The research applied descriptive, non experimental and cross-sectional methods. The aim of the research was to find out the relationship between the medication adherence and the life quality of the hemodialysis patients. The medication adherence data was gathered by MMAS (Morisky Medication Adherence Scale and the life quality was gathered by WHOQOL (World Health Organization Quality of Life of hemodialysis patients at PKU Muhammadiyah Yogyakarta Hospital. The research results showed that from 101 respondents the medication adherence in the level of high  58,42 %, level moderate  8 , 91 %  and  low  32 , 67 %. .The quality of life of patients of the domain physical, mental, social and environmental at a high rate and low. Relations adherence the use of a drug with the quality of life of significant (p< 0,005 in all the domain. Compliance the use of drugs associated with the quality of life of hemodialysis patients at PKU Muhammadiyah Yogyakarta Hospital.

  10. ADAM12: a novel first-trimester maternal serum marker for Down syndrome

    DEFF Research Database (Denmark)

    Laigaard, Jennie; Sørensen, Tina; Fröhlich, Camilla

    2003-01-01

    levels decrease markedly during pregnancy. ADAM12 (A disintegrin and metalloprotease) is an IGFBP-3 and IGFBP-5 protease and is present in human pregnancy serum. The goal of this study was to determine whether ADAM12 concentration in maternal serum is a useful indicator of foetal health. METHODS: We......OBJECTIVES: The concentration of bioavailable insulin-like growth factor (IGF) I and II is important to foetal growth. It is regulated by insulin-like growth factor binding proteins (IGFBP) 1 through 6. Proteolytic cleavage of IGFBP-3 takes place in human pregnancy serum; accordingly, IGFBP-3 serum...... developed an enzyme-linked immunosorbent assay (ELISA) for the quantification of ADAM12 in serum. The assay range was 42 to 667 micro g/L. Recombinant ADAM12 was used as the standard for calibration. RESULTS: We found that ADAM12 was highly stable in serum. Serum concentration increased from 180 micro g...

  11. Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.

    Science.gov (United States)

    Zeesman, Susan; McCready, Elizabeth; Sadikovic, Bekim; Nowaczyk, Małgorzata Jm

    2015-01-01

    Malsegregation of chromosomes during reproduction can result in uniparental disomy when associated with trisomy rescue, monosomy rescue or gamete complementation. Pathogenicity stemming from uniparental disomy in liveborns results from imprinting disorders or autozygosity for autosomal recessive disorders. We report on a girl with Prader-Willi syndrome and Tay-Sachs disease resulting from maternal uniparental disomy of chromosome 15. The child also had an isochromosome Xq. To further characterize the etiology of the aberrant chromosome 15 and the isochromosome Xq, SNP loci from both chromosomes were assessed in the proband and parents, and genome-wide DNA methylation analysis was performed. SNP and DNA methylation analysis confirmed maternal uniparental heterodisomy around the Prader-Willi locus, while the region around the HEXA locus showed maternal uniparental isodisomy. This result is consistent with trisomy rescue of a maternal meiosis l error in a chromosome 15 with two meiotic recombinations. SNP analysis of the X chromosomes is consistent with a maternal origin for the isochromosome. © 2014 Wiley Periodicals, Inc.

  12. Pathologic Evaluation of Type 2 Porcine Reproductive and Respiratory Syndrome Virus Infection at the Maternal-Fetal Interface of Late Gestation Pregnant Gilts.

    Directory of Open Access Journals (Sweden)

    Predrag Novakovic

    Full Text Available The pathogenesis of fetal death caused by porcine reproductive and respiratory syndrome virus (PRRSV remains unclear. The objective of this study was to improve our understanding of the pathogenesis by assessing potential relationships between specific histopathological lesions and PRRSV RNA concentration in the fetuses and the maternal-fetal interface. Pregnant gilts were inoculated with PRRSV (n = 114 or sham inoculated (n = 19 at 85±1 days of gestation. Dams and their litters were humanely euthanized and necropsied 21 days later. PRRSV RNA concentration was measured by qRT-PCR in the maternal-fetal interface and fetal thymus (n = 1391. Presence of fetal lesions was positively related to PRRSV RNA concentration in the maternal-fetal interface and fetal thymus (P<0.05 for both, but not to the distribution or severity of vasculitis, or the severity of endometrial inflammation. The presence of fetal and umbilical lesions was associated with greater odds of meconium staining (P<0.05 for both. The distribution and severity of vasculitis in endometrium were not significantly related to PRRSV RNA concentration in maternal-fetal interface or fetal thymus. Endometrial inflammation severity was positively related to distribution and severity of vasculitis in endometrium (P<0.001 for both. Conclusions from this study suggest that type 2 PRRSV infection in pregnant gilts induces significant histopathological lesions at maternal-fetal interface, but they are not associated with presence of PRRSV in the maternal-fetal interface at 21 days post infection. Conversely, fetal pathological lesions are associated with presence of PRRSV in the maternal-fetal interface and fetal thymus, and meconium staining is significantly associated with the presence of both fetal and umbilical lesions observed 21 days post infection.

  13. Pathologic Evaluation of Type 2 Porcine Reproductive and Respiratory Syndrome Virus Infection at the Maternal-Fetal Interface of Late Gestation Pregnant Gilts

    Science.gov (United States)

    Novakovic, Predrag; Harding, John C. S.; Al-Dissi, Ahmad N.; Ladinig, Andrea; Detmer, Susan E.

    2016-01-01

    The pathogenesis of fetal death caused by porcine reproductive and respiratory syndrome virus (PRRSV) remains unclear. The objective of this study was to improve our understanding of the pathogenesis by assessing potential relationships between specific histopathological lesions and PRRSV RNA concentration in the fetuses and the maternal-fetal interface. Pregnant gilts were inoculated with PRRSV (n = 114) or sham inoculated (n = 19) at 85±1 days of gestation. Dams and their litters were humanely euthanized and necropsied 21 days later. PRRSV RNA concentration was measured by qRT-PCR in the maternal-fetal interface and fetal thymus (n = 1391). Presence of fetal lesions was positively related to PRRSV RNA concentration in the maternal-fetal interface and fetal thymus (P<0.05 for both), but not to the distribution or severity of vasculitis, or the severity of endometrial inflammation. The presence of fetal and umbilical lesions was associated with greater odds of meconium staining (P<0.05 for both). The distribution and severity of vasculitis in endometrium were not significantly related to PRRSV RNA concentration in maternal-fetal interface or fetal thymus. Endometrial inflammation severity was positively related to distribution and severity of vasculitis in endometrium (P<0.001 for both). Conclusions from this study suggest that type 2 PRRSV infection in pregnant gilts induces significant histopathological lesions at maternal-fetal interface, but they are not associated with presence of PRRSV in the maternal-fetal interface at 21 days post infection. Conversely, fetal pathological lesions are associated with presence of PRRSV in the maternal-fetal interface and fetal thymus, and meconium staining is significantly associated with the presence of both fetal and umbilical lesions observed 21 days post infection. PMID:26963101

  14. Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU

    Directory of Open Access Journals (Sweden)

    Siegrist Johannes

    2008-03-01

    Full Text Available Abstract Background Normal intellectual and personal development can be expected in early-diagnosed and treated PKU patients. Aim of the study was to analyse quality of life and social status, which are important parameters for an overall estimation of success of treatment apart from intellectual outcome in adult PKU patients. Methods 67 patients completed a questionnaire on quality of life and social status. Data was compared to the German census on an age matched control collective. Results Quality of life measured with the Profile of Quality of Life in the Chronically Ill (PLC revealed mean values for capacity of performance in the patient group in the same range as in the control collective. The analysis of the social state of PKU patients revealed a tendency towards lower or delayed autonomy, and a low rate of forming normal adult relationships in which to have children. Schooling and professional career corresponded approximately to the control collective. Conclusion Though every chronic disorder must be regarded as restraining, it shows that PKU does not preclude healthy emotional adjustment when the disease is diagnosed early and treated well.

  15. Elevated second-trimester maternal serum β-human chorionic gonadotropin and amniotic fluid alpha-fetoprotein as indicators of adverse obstetric outcomes in fetal Turner syndrome.

    Science.gov (United States)

    Alvarez-Nava, Francisco; Soto, Marisol; Lanes, Roberto; Pons, Hector; Morales-Machin, Alisandra; Bracho, Ana

    2015-12-01

    The objective of this study was to determine the ability of biochemical analytes to identify adverse outcomes in pregnancies with Turner syndrome. Maternal serum and amniotic fluid (AF) marker concentrations were measured in 73 singleton pregnancies with Turner syndrome (10-22 weeks of gestation). Fetal Turner syndrome was definitively established by cytogenetic analysis. Two subgroups, fetuses with hydrops fetalis versus fetuses with cystic hygroma, were compared. Receiver operating characteristic curves and relative risk were established for a cut-off multiples of the median ≥3.5 for β-subunit of human chorionic gonadotropin (hCG) or AF alpha-fetoprotein (AFP). Forty-nine (67%) of 73 pregnant women had an abnormal maternal serum. While levels of pregnancy-associated plasma protein-A and free β-subunit (fβ)-hCG were not different to those of the control group, AFP, unconjugated estriol and β-hCG concentrations were significantly different in the study group (P Turner syndrome pregnancies with the highest risk of fetal death. © 2015 Japan Society of Obstetrics and Gynecology.

  16. Altered ultrasonic vocalization and impaired learning and memory in Angelman syndrome mouse model with a large maternal deletion from Ube3a to Gabrb3.

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    Yong-Hui Jiang

    2010-08-01

    Full Text Available Angelman syndrome (AS is a neurobehavioral disorder associated with mental retardation, absence of language development, characteristic electroencephalography (EEG abnormalities and epilepsy, happy disposition, movement or balance disorders, and autistic behaviors. The molecular defects underlying AS are heterogeneous, including large maternal deletions of chromosome 15q11-q13 (70%, paternal uniparental disomy (UPD of chromosome 15 (5%, imprinting mutations (rare, and mutations in the E6-AP ubiquitin ligase gene UBE3A (15%. Although patients with UBE3A mutations have a wide spectrum of neurological phenotypes, their features are usually milder than AS patients with deletions of 15q11-q13. Using a chromosomal engineering strategy, we generated mutant mice with a 1.6-Mb chromosomal deletion from Ube3a to Gabrb3, which inactivated the Ube3a and Gabrb3 genes and deleted the Atp10a gene. Homozygous deletion mutant mice died in the perinatal period due to a cleft palate resulting from the null mutation in Gabrb3 gene. Mice with a maternal deletion (m-/p+ were viable and did not have any obvious developmental defects. Expression analysis of the maternal and paternal deletion mice confirmed that the Ube3a gene is maternally expressed in brain, and showed that the Atp10a and Gabrb3 genes are biallelically expressed in all brain sub-regions studied. Maternal (m-/p+, but not paternal (m+/p-, deletion mice had increased spontaneous seizure activity and abnormal EEG. Extensive behavioral analyses revealed significant impairment in motor function, learning and memory tasks, and anxiety-related measures assayed in the light-dark box in maternal deletion but not paternal deletion mice. Ultrasonic vocalization (USV recording in newborns revealed that maternal deletion pups emitted significantly more USVs than wild-type littermates. The increased USV in maternal deletion mice suggests abnormal signaling behavior between mothers and pups that may reflect abnormal

  17. Identification of trisomy 18, trisomy 13, and Down syndrome from maternal plasma.

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    Gekas, Jean; Langlois, Sylvie; Ravitsky, Vardit; Audibert, François; van den Berg, David-Gradus; Haidar, Hazar; Rousseau, François

    2014-01-01

    Current prenatal diagnosis for fetal aneuploidies (including trisomy 21 [T21]) generally relies on an initial biochemical serum-based noninvasive prenatal testing (NIPT) after which women who are deemed to be at high risk are offered an invasive confirmatory test (amniocentesis or chorionic villi sampling for a fetal karyotype), which is associated with a risk of fetal miscarriage. Recently, genomics-based NIPT (gNIPT) was proposed for the analysis of fetal genomic DNA circulating in maternal blood. The diffusion of this technology in routine prenatal care could be a major breakthrough in prenatal diagnosis, since initial research studies suggest that this novel approach could be very effective and could reduce substantially the number of invasive procedures. However, the limitations of gNIPT may be underappreciated. In this review, we examine currently published literature on gNIPT to highlight advantages and limitations. At this time, the performance of gNIPT is relatively well-documented only in high-risk pregnancies for T21 and trisomy 18. This additional screening test may be an option for women classified as high-risk of aneuploidy who wish to avoid invasive diagnostic tests, but it is crucial that providers carefully counsel patients about the test's advantages and limitations. The gNIPT is currently not recommended as a first-tier prenatal screening test for T21. Since gNIPT is not considered as a diagnostic test, a positive gNIPT result should always be confirmed by an invasive test, such as amniocentesis or chorionic villus sampling. Validation studies are needed to optimally introduce this technology into the existing routine workflow of prenatal care.

  18. Stevens Johnson Syndrome and Toxic Epidermal Necrolysis: Maternal and Foetal Outcomes in Twenty-Two Consecutive Pregnant HIV Infected Women.

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    Lauren Knight

    Full Text Available Stevens-Johnson syndrome (SJS and toxic epidermal necrolysis (TEN form a spectrum of a rare and life-threatening cutaneous drug reaction. SJS/TEN in pregnancy poses largely unknown risk factors and outcomes for both the mother and foetus compared to the general population.We conducted a study of consecutive pregnant women admitted to single tertiary referral centre in South Africa with SJS/TEN over a 3 year period. They were all managed by the same medical team using the same protocols. We evaluated their underlying illnesses, offending drugs and the course of pregnancy and outcomes to determine factors influencing maternal and foetal outcomes.We identified twenty-two women who developed SJS/TEN while pregnant, all of them HIV-infected. Their median age was 29 years. The majority 16/22 (73% had SJS, the milder variant of the disease affecting < 10% body surface area. Nevirapine was the offending drug in 21/22 (95% cases. All 22 of the mothers survived with 3/22 (14% developing postpartum sepsis. Pregnancy outcomes were known in 18/22 women and 9/18 (50% babies were delivered by caesarean section. There were 2 foetal deaths at 21 and 31 weeks respectively and both were associated with post-partum sepsis. Postnatal complications occurred in 5 cases, 3 involving the respiratory system and the other two being low birth weight deliveries. Eight placentae and one foetus were sent for histology and none showed macroscopic or microscopic features of SJS/TEN. On follow-up, only 12/20 children were tested for HIV at 6 weeks post-delivery and none of them were HIV-infected. All had received prophylactic ARVs including nevirapine.TEN, the severe form of the disease, was associated with poorer foetal outcomes. SJS/TEN-associated mortality is not increased in HIV-infected pregnant women. Maternal SJS/TEN does not seem to commonly manifest in the foetus.

  19. Phenylketonuria (PKU)

    Science.gov (United States)

    ... Office of Global Health (OGH) Office of Health Equity (OHE) Office of Legislation and Public Policy (OLPP) ... may benefit from a medication called sapropterin dihydrochloride (brand name Kuvan®) that treats the disorder. 2 NICHD. ( ...

  20. Effect of Amnioreduction on Maternal and Perinatal Outcomes in Patients with Twin - Twin Transfusion Syndrome

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    Tugba Ensari

    2014-12-01

    Full Text Available Aim: To assess the effect of amnioreduction on perinatal outcomes in patients with twin %u2013 twin transfusion syndrome (TTTS. Material and Method: 42 patients with TTTS were enrolled into this study. 14 of 42 patients who underwent amnioreduction formed the study group and 28 of 42 patients who did not undergo amnioreduction formed the control group. Effects of amnioreduction on average week of birth, birth weight, need of neonatal intensive care and perinatal mortality were gathered from medical records retrospectively. P score under 0.05 was accepted as significant. Results: Average week of birth of women who underwent amnioreduction was 28.7 ± 4.1 however it was 31.8 ± 4.9 on control group. Although number of births under 32 weeks is 12 (85.7% and under 28 weeks is 10 (71.4% on patients who underwent amnioreduction, it was 12 (43.1% for under 32 weeks and 9 (32.1% for under 28 weeks in control group (P

  1. Association between presenilin-1 polymorphism and maternal meiosis II errors in Down syndrome.

    Science.gov (United States)

    Petersen, M B; Karadima, G; Samaritaki, M; Avramopoulos, D; Vassilopoulos, D; Mikkelsen, M

    2000-08-28

    Several lines of evidence suggest a shared genetic susceptibility to Down syndrome (DS) and Alzheimer disease (AD). Rare forms of autosomal-dominant AD are caused by mutations in the APP and presenilin genes (PS-1 and PS-2). The presenilin proteins have been localized to the nuclear membrane, kinetochores, and centrosomes, suggesting a function in chromosome segregation. A genetic association between a polymorphism in intron 8 of the PS-1 gene and AD has been described in some series, and an increased risk of AD has been reported in mothers of DS probands. We therefore studied 168 probands with free trisomy 21 of known parental and meiotic origin and their parents from a population-based material, by analyzing the intron 8 polymorphism in the PS-1 gene. An increased frequency of allele 1 in mothers with a meiosis II error (70.8%) was found compared with mothers with a meiosis I error (52.7%, P < 0.01), with an excess of the 11 genotype in the meiosis II mothers. The frequency of allele 1 in mothers carrying apolipoprotein E (APOE) epsilon4 allele (68.0%) was higher than in mothers without epsilon4 (52.2%, P < 0.01). We hypothesize that the PS-1 intronic polymorphism might be involved in chromosomal nondisjunction through an influence on the expression level of PS-1 or due to linkage disequilibrium with biologically relevant polymorphisms in or outside the PS-1 gene. Copyright 2000 Wiley-Liss, Inc.

  2. PKU: high plasma phenylalanine concentrations are associated with increased prevalence of mood swings.

    Science.gov (United States)

    Anjema, Karen; van Rijn, Margreet; Verkerk, Paul H; Burgerhof, Johannes G M; Heiner-Fokkema, M Rebecca; van Spronsen, Francjan J

    2011-11-01

    In phenylketonuria, knowledge about the relation between behavior and plasma phenylalanine is scarce. The aim of this study was to determine whether high phenylalanine is associated with disturbed behavior noticed by the patient and or close environment (parents or partners). 48 early treated PKU patients (median age 8.5, range 0-35 years) participated (median phenylalanine concentration in total sample 277 (range 89-1171) μmol/l; and in patients introvert or extravert behavior. The interviewer as well as the respondents were blinded with regard to the phenylalanine concentration. Patients reported less deviant behavior compared to close environment. Mood swings were positively associated with phenylalanine concentrations in the total group (P=0.039) and patients introvert and extravert behavior were not statistically significant. there is a positive association between phenylalanine concentrations and mood swings. Copyright © 2011 Elsevier Inc. All rights reserved.

  3. High dose sapropterin dihydrochloride therapy improves monoamine neurotransmitter turnover in murine phenylketonuria (PKU).

    Science.gov (United States)

    Winn, Shelley R; Scherer, Tanja; Thöny, Beat; Harding, Cary O

    2016-01-01

    Central nervous system (CNS) deficiencies of the monoamine neurotransmitters, dopamine and serotonin, have been implicated in the pathophysiology of neuropsychiatric dysfunction in phenylketonuria (PKU). Increased brain phenylalanine concentration likely competitively inhibits the activities of tyrosine hydroxylase (TH) and tryptophan hydroxylase (TPH), the rate limiting steps in dopamine and serotonin synthesis respectively. Tetrahydrobiopterin (BH4) is a required cofactor for TH and TPH activity. Our hypothesis was that treatment of hyperphenylalaninemic Pah(enu2/enu2) mice, a model of human PKU, with sapropterin dihydrochloride, a synthetic form of BH4, would stimulate TH and TPH activities leading to improved dopamine and serotonin synthesis despite persistently elevated brain phenylalanine. Sapropterin (20, 40, or 100mg/kg body weight in 1% ascorbic acid) was administered daily for 4 days by oral gavage to Pah(enu2/enu2) mice followed by measurement of brain biopterin, phenylalanine, tyrosine, tryptophan and monoamine neurotransmitter content. A significant increase in brain biopterin content was detected only in mice that had received the highest sapropterin dose, 100mg/kg. Blood and brain phenylalanine concentrations were unchanged by sapropterin therapy. Sapropterin therapy also did not alter the absolute amounts of dopamine and serotonin in brain but was associated with increased homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA), dopamine and serotonin metabolites respectively, in both wild type and Pah(enu2/enu2) mice. Oral sapropterin therapy likely does not directly affect central nervous system monoamine synthesis in either wild type or hyperphenylalaninemic mice but may stimulate synaptic neurotransmitter release and subsequent metabolism. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. Maternal perceptions of sibling adaptation in Korean families of children with Down syndrome.

    Science.gov (United States)

    Choi, H; Van Riper, M

    2014-10-01

    It is estimated that more than 500 infants with Down syndrome (DS) are born each year in Korea. DS affects not only these individuals, but family members as well. Some siblings deal successfully with the challenges of living with a child with DS and adapt well while others struggle or fail to adapt. The aims of this descriptive study were to explore how Korean mothers of children with DS perceive the adaptation of their typically developing (TD) children aged 4 to 19 and how family variables contribute to sibling adaptation. This descriptive, cross-sectional study was conducted with 105 Korean mothers. Most mothers indicated that their TD children were not experiencing psychological or behavioural problems; however, many described problems in the sibling relationship. It was found that family factors (i.e. condition management effort, condition management ability, child's daily life, parental mutuality, family hardiness and social support) were strong predictors of sibling psychological, behavioural and relational adaptation. Demographic characteristics of the child with DS, the mother and the family appeared to significantly influence sibling adaptation. These findings highlight the importance of familial contexts in understanding sibling adaptation. Knowledge of family factors associated with better adaptation in Korean siblings of child with DS will facilitate the development of culturally appropriate interventions for these children and their families. In addition, an awareness of demographic characteristics associated with sibling adaptation will help health care professionals identify siblings who are at increased risk of experiencing difficulties in adapting. © 2014 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  5. Maternal and fetal insulin levels at birth in women with polycystic ovary syndrome: data from a randomized controlled study on metformin.

    Science.gov (United States)

    Helseth, Ragnhild; Vanky, Eszter; Stridsklev, Solhild; Vogt, Christina; Carlsen, Sven M

    2014-05-01

    Metformin is suggested to reduce pregnancy complications in women with polycystic ovary syndrome (PCOS). Metformin crosses the placenta and therapeutic concentrations are measured in the fetal circulation. Whether metformin treatment in pregnant PCOS women affects maternal and fetal insulin concentrations at birth is not clarified. To investigate the possible effect of metformin on insulin concentrations in umbilical cord blood and the possible association between maternal and fetal insulin concentrations. Post-hoc analysis of a subgroup of PCOS women participating in a double-blind randomized controlled trial. University hospital setting. Women with PCOS (n=118), aged 19-39 years. Maternal and umbilical cord insulin concentrations immediately after birth. At delivery women randomized to metformin had lower insulin concentrations than those randomized to placebo (259±209 vs 361±261 pmol/l; P=0.020). No difference was found in insulin concentrations in umbilical venous (P=0.95) and arterial (P=0.39) blood between the metformin and placebo groups. The arteriovenous difference was also equal between the groups (P=0.38). Insulin concentrations were higher in the umbilical vein than in the umbilical artery independent of randomization (70±51 vs 45±48 pmol/l; Pmetformin treatment during pregnancy resulted in lower maternal insulin concentrations at delivery. Metformin treatment did not affect fetal insulin concentrations. Higher insulin concentrations in the umbilical vein indicate that the placenta somehow secretes insulin to the fetus. The possibility of placental insulin secretion to the fetus deserves further investigations.

  6. Analisis Upaya Peningkatan Mutu Manajemen Pelayanan Bencana Terhadap Korban Bencana di Rumah Sakit PKU Muhammadiyah Bantul Berdasarkan Metode Quality Function Deployment (QFD

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    Dyah Mustika Kurniatri

    2016-01-01

    Full Text Available Hospitals must be well prepared and ready for any kind of disaster in both of its facilities and human resources. PKU Muhammadiyah Bantul Hospital is situated within disaster prone area. The main issues faced by the hospital are complaints from disaster victims regarding its medical services, nursing, and medical facilities. Therefore, PKU Muhammadiyah Bantul Hospital tries to make serious efforts to improve its service quality by conducting a deep analysis of patients. The Quality Function Deployment (QFD method is applied to measure the service quality improvement in PKU Muhammadiyah Bantul Hospital. This method mainly formulates the management’s improvement efforts based on demands. Subjects of this research were earthquake’s victims at Yogyakarta in 2006 with 30 people as the samples. PKU Muhammadiyah Bantul Hospital has had preparedness of medical services, nursing and other supporting facilities for disaster management, but there was some elements that need to be improved to reach custumer satisfaction.

  7. Evaluating the Agreement of Risk Categorization for Fetal Down Syndrome Screening between Ultrasound-Based Gestational Age and Menstrual-Based Gestational Age by Maternal Serum Markers.

    Science.gov (United States)

    Chaksuwat, Pakorn; Sirichotiyakul, Supatra; Luewan, Suchaya; Tongsong, Theera

    2018-01-01

    To evaluate the agreement of risk categorization for Down syndrome screening between ultrasound scan-based gestational age (GA) and last menstrual period-based gestational age in both first and second trimesters by maternal serum markers. Data comprising 4,055 and 4,016 cases of first and second trimester screening were used. The maternal serum markers were analyzed using the ultrasound-based GA and menstrual age. The subjects whose menstrual age and ultrasound-based GA fell in different trimesters were excluded because the risk could not be calculated due to the different serum markers used in each trimester. The agreement of risk categorization for fetal Down syndrome was evaluated. The agreement of Down syndrome screening in the first and the second trimesters were 92.7% and 89%, respectively. The study found a good agreement of risk categorization by Kappa index, which was 0.615 for the overall screening. The menstrual age had a slight decrease in the detection rate and a lower false-positive rate. Menstrual age is acceptable in cases of accurate last menstrual period. However, in places where ultrasonography is not readily available, gestational age estimation by menstrual age along with clinical examination that corresponds to the gestational age can be reliable.

  8. Associations of biochemical changes and maternal traits with mutation 1843 (C>T in the RYR1 gene as a common cause for porcine stress syndrome

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    Popovski ZT

    2016-12-01

    Full Text Available Stress syndrome is usually caused by a mutation in the ryanodine receptor gene (ryr1 and it is widely studied in humans and swine populations. The protein product of this gene plays a crucial role in the regulation of calcium transport in muscle cells. A G>T mutation in the human ryr1 gene, which results in the replacement of a conserved arginine at position 614 where a leucine occurs at the same position as the previously identified Arg→Cys mutation reported in all cases of porcine stress syndrome (PSS. Porcine stress syndrome affects biochemical pathways in stress-susceptible individuals during a stress episode and some biochemical parameters that were used as markers for diagnostic purposes. Also, PSS has remarkable influence on the maternal characteristics of sows. This study dealt with different genotypes for PSS and its association with possible biochemical changes and maternal traits of sows. Seventy-three reproductive sows genotyped for PSS by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP were included in this survey. Sixty of them were stress-free (NN, 11 were heterozygous carriers (Nn and two animals were homozygous (nn for the 1843 (C>T mutation. Significant differences in non stress induced animals with different PSS genotypes were found in the values of creatine phoshokinase (CPK, lactate dehydrogenase (LDH, alkaline phosphatase (AP and aspartate aminotransferase (AST. Regarding the maternal traits, our study showed that stress susceptible animals (nn have an increased number of stillborn piglets and a reduced number of newborn piglets compared with heterozygous and normal animals.

  9. Development of a Whole Blood Paper-Based Device for Phenylalanine Detection in the Context of PKU Therapy Monitoring

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    Robert Robinson

    2016-02-01

    Full Text Available Laboratory-based testing does not allow for the sufficiently rapid return of data to enable optimal therapeutic monitoring of patients with metabolic diseases such as phenylketonuria (PKU. The typical turn-around time of several days for current laboratory-based testing is too slow to be practically useful for effective monitoring or optimizing therapy. This report describes the development of a rapid, paper-based, point-of-care device for phenylalanine detection using a small volume (40 μL of whole blood. The quantitative resolution and reproducibility of this device with instrumented readout are described, together with the potential use of this device for point-of-care monitoring by PKU patients.

  10. Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome

    NARCIS (Netherlands)

    Rocha, Julio C.; van Spronsen, Francjan J.; Almeida, Manuela F.; Soares, Gabriela; Quelhas, Dulce; Ramos, Elisabete; Guimaraes, Joao T.; Borges, Nuno

    2012-01-01

    Background: Little is known about the consequences of the special energy enriched diet used to treat patients with phenylketonuria (PKU) in terms of obesity and metabolic syndrome (MetSyn) development. Objective: To investigate the prevalence of overweight and obesity, and its consequences in terms

  11. Born at 27 weeks of gestation with classical PKU: challenges of dietetic management in a very preterm infant

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    Diana Ballhausen

    2011-11-01

    Full Text Available Few cases of premature infants with classical phenylketonuria (PKU have been reported. Treatment of these patients is challenging due to the lack of a phenylalanine (Phe-free amino acid (AA solution for parenteral nutrition. A boy born at 27 weeks of gestation with a weight of 1000 g was diagnosed with classical PKU on day 7 because of highly elevated Phe level at newborn screening (2800 μmol/L. Phe intake was suspended for 5 days and during this time intravenous glucose and lipids as well as small amounts of Phe-free formula through nasogastric tube were given. Because of insufficient weight gain attributable to deficiency of essential AA, a Phe-reduced, BCAA-enriched parenteral nutrition was added to satisfy AA requirements without overloading in Phe. Under this regimen, the boy started to gain weight, Phe plasma levels progressively reduced and normalized on day 19. At the age of 40 months, the patient shows normal growth parameters (height 25th percentile, weight 25-50th percentile, head circumference 50th percentile with a normal result for formally tested psychomotor development (WPPSI-III. The good outcome of the patient in spite of over 2 weeks of extremely high Phe concentrations suggests that the premature brain may still have enough plasticity to recover. Lacking a Phe-free intravenous AA solution, successful management of premature infants with PKU depends on the child’s tolerance of enteral nutrition. Although the coincidence of PKU and prematurity is rare, there is strong need for the development of an appropriate Phe-free amino acid solution for parenteral nutrition especially in case of gastro-intestinal complications of prematurity.

  12. GAMBARAN EPIDEMIOLOGI KEJADIAN PREEKLAMPSIA/EKLAMPSIA DI RSU PKU MUHAMMADIYAH YOGYAKARTA TAHUN 2007–2009

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    Sitti Nur Djannah

    2012-12-01

    Full Text Available Background: Preeclampsia and eclampsia is a complication in pregnancies and deliveries which increased mother and fetal morbidity and motality rate. The high incidence and large amount of risk factors caused poor prognostic. Early diagnosis and treatment is very important to be done mother and fetal mortality rate. The purpose of this research was to investigate epidemiology description of preeclampsia/eclampsia in PKU Muhammadiyah Hospital in Yogyakarta from 2007–2009 years. Methods: This research used qualitatif method trough cross sextional approach. Secondery data of 118 were drawn as the sample. Result: During 2007–2009 there were 118 cases (3.9% of preeclampsia/eclampsia from total deliveries (3036 deliveries, patient of eclampsia were more (83.9% than low preeclampsia, most of age group that was in the group 20–30 years old (64.4%, had primigravida parity ( 69.5%, frequency of antenatal care < 4 kali (76.3%, did not have hipertension history (83.9%, mount the education which is many (39.8% is public high school, unemployed (63.5%. Conclusion: Cases of preeclampsia/eclampsia from 2007–2009 years is 3.9%, age of mother 20–30 years old 64.4%, had primigravida parity 69.5%, frequency of antenatal care < 4 kali 76.3%, the education is public high school 39.8% and unemployed 63.5%. Key word: epidemiology, preeclampsia/eclampsia, descriptive analysis

  13. ANALISIS BIAYA TERAPI STROKE PADA PASIEN RAWAT INAP DI RUMAH SAKIT PKU MUHAMMADIYAH BANTUL YOGYAKARTA

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    Faridah Baroroh

    2017-03-01

    Full Text Available Stroke merupakan penyebab kematian paling tinggi di dunia selain kanker, selain itu terapi stroke juga memerlukan biaya yang besar, sehingga pengatasan tepat sangat diperlukan untuk mengatasinya. Tujuan penelitian untuk mengetahui jenis obat, komponen biaya, dan rata-rata biaya obat terapi stroke perhari rawat inap di RS PKU Muhammadiyah Bantul Yogyakarta. Metode penelitian yang dilakukan adalah deskriptif dengan data retrospektif Januari-Juni 2015 yang memenuhi kriteria inklusi. Analisa biaya dilakukan melalui payers perspective yang difokuskan pada biaya medik langsung. Hasil penelitian menunjukkan dari 130 pasien yang memenuhi kriteria inklusi, 10,4% stroke hemorrhage dan 89,6% stroke non hemorrhage. Jenis obat terapi stroke yang banyak digunakan adalah neuroprotektan citicholine dan piracetam. Komponen biaya terbesar adalah biaya obat, stroke stroke hemorrhage 34.6% dan non hemorrhage 34.7%. Rata-rata biaya obat perhari rawat inap stroke hemorrhage Rp.65.323 – Rp.79.979 dan stroke non hemorrhage Rp.115.384 - Rp.119.723. Rata-rata biaya obat stroke per hari rawat inap pasien stroke hemorrhage dan stroke non hemorrhage menunjukkan tidak ada perbedaan yang signifikan (p>0.05. Kesimpulan penelitian ini adalah jenis obat yang banyak digunakan neuroprotektan citicholine dan piracetam, dengan komponen biaya terbesar adalah biaya obat 34.6% - 34.7% dari biaya total perawatan, serta tidak ada perbedaan yang signifikan (p>0.05 rata-rata biaya obat stroke per hari rawat inap pasien stroke hemorrhage dan stroke non hemorrhage.

  14. Language processing and executive functions in early treated adults with phenylketonuria (PKU).

    Science.gov (United States)

    De Felice, Sara; Romani, Cristina; Geberhiwot, Tarekegn; MacDonald, Anita; Palermo, Liana

    We provide an in-depth analysis of language functions in early-treated adults with phenylketonuria (AwPKUs, N = 15-33), as compared to age- and education-matched controls (N = 24-32; N varying across tasks), through: a. narrative production (the Cinderella story), b. language pragmatics comprehension (humour, metaphors, inferred meaning), c. prosody discrimination d. lexical inhibitory control and planning (Blocked Cyclic Naming; Hayling Sentence Completion Test, Burgess & Shallice, 1997). AwPKUs exhibited intact basic language processing (lexical retrieval, phonology/articulation, sentence construction). Instead, deficits emerged in planning and reasoning abilities. Compared to controls, AwPKUs were: less informative in narrative production (lower rate of Correct Information Units); slower in metaphorical understanding and inferred meaning; less accurate in focused lexical-search (Hayling test). These results suggest that i) executive deficits in PKU cannot be explained by an accumulation of lower-order deficits and/or general speed impairments, ii) executive functions engage dedicated neurophysiological resources, rather than simply being an emergent property of lower-level systems.

  15. Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics.

    Science.gov (United States)

    Catic, Aida; Gurbeta, Lejla; Kurtovic-Kozaric, Amina; Mehmedbasic, Senad; Badnjevic, Almir

    2018-02-13

    The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Cytogenetic and molecular analyses are the most frequent tests used in prenatal diagnostic for the early detection of Turner, Klinefelter, Patau, Edwards and Down syndrome. These procedures can be lengthy, repetitive; and often employ invasive techniques so a robust automated method for classifying and reporting prenatal diagnostics would greatly help the clinicians with their routine work. The database consisted of data collected from 2500 pregnant woman that came to the Institute of Gynecology, Infertility and Perinatology "Mehmedbasic" for routine antenatal care between January 2000 and December 2016. During first trimester all women were subject to screening test where values of maternal serum pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (β-hCG) were measured. Also, fetal nuchal translucency thickness and the presence or absence of the nasal bone was observed using ultrasound. The architectures of linear feedforward and feedback neural networks were investigated for various training data distributions and number of neurons in hidden layer. Feedback neural network architecture out performed feedforward neural network architecture in predictive ability for all five aneuploidy prenatal syndrome classes. Feedforward neural network with 15 neurons in hidden layer achieved classification sensitivity of 92.00%. Classification sensitivity of feedback (Elman's) neural network was 99.00%. Average accuracy of feedforward neural network was 89.6% and for

  16. A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs and/or possible chromosome 5p chromothripsis.

    Directory of Open Access Journals (Sweden)

    Heng Gu

    Full Text Available Cri-du-Chat syndrome (MIM 123450 is a chromosomal syndrome characterized by the characteristic features, including cat-like cry and chromosome 5p deletions. We report a family with five individuals showing chromosomal rearrangements involving 5p, resulting from rare maternal complex chromosomal rearrangements (CCRs, diagnosed post- and pre-natally by comprehensive molecular and cytogenetic analyses. Two probands, including a 4½-year-old brother and his 2½-year- old sister, showed no diagnostic cat cry during infancy, but presented with developmental delay, dysmorphic and autistic features. Both patients had an interstitial deletion del(5(p13.3p15.33 spanning ≈ 26.22 Mb. The phenotypically normal mother had de novo CCRs involving 11 breakpoints and three chromosomes: ins(11;5 (q23;p14.1p15.31,ins(21;5(q21;p13.3p14.1,ins(21;5(q21;p15.31p15.33,inv(7(p22q32dn. In addition to these two children, she had three first-trimester miscarriages, two terminations due to the identification of the 5p deletion and one delivery of a phenotypically normal daughter. The unaffected daughter had the maternal ins(11;5 identified prenatally and an identical maternal allele haplotype of 5p. Array CGH did not detect any copy number changes in the mother, and revealed three interstitial deletions within 5p15.33-p13.3, in the unaffected daughter, likely products of the maternal insertions ins(21;5. Chromothripsis has been recently reported as a mechanism drives germline CCRs in pediatric patients with congenital defects. We postulate that the unique CCRs in the phenotypically normal mother could resulted from chromosome 5p chromothripsis, that further resulted in the interstitial 5p deletions in the unaffected daughter. Further high resolution sequencing based analysis is needed to determine whether chromothripsis is also present as a germline structural variation in phenotypically normal individuals in this family.

  17. Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes

    DEFF Research Database (Denmark)

    Delio, Maria; Guo, Tingwei; McDonald-McGinn, Donna M

    2013-01-01

    Velocardiofacial and DiGeorge syndromes, also known as 22q11.2 deletion syndrome (22q11DS), are congenital-anomaly disorders caused by a de novo hemizygous 22q11.2 deletion mediated by meiotic nonallelic homologous recombination events between low-copy repeats, also known as segmental duplication...

  18. Clinical Management of a Child with Prader-Willi Syndrome from Maternal Uniparental Disomy (UPD) Genetic Inheritance

    Science.gov (United States)

    Bellon-Harn, Monica L.

    2005-01-01

    Prader-Willi Syndrome (PWS) is reported in 1 in 10,000-15,000 individuals. Unfortunately, many cases are missed due to clinicians' lack of familiarity with the syndrome as well as clinical and laboratory diagnostic criteria. Although common clinical characteristics are reported, variety exists in the nature and severity of dysfunction associated…

  19. A Case of Alloimmune Thrombocytopenia, Hemorrhagic Anemia-Induced Fetal Hydrops, Maternal Mirror Syndrome, and Human Chorionic Gonadotropin–Induced Thyrotoxicosis

    Directory of Open Access Journals (Sweden)

    Venu Jain

    2013-05-01

    Full Text Available Fetal/neonatal alloimmune thrombocytopenia (FNAIT can be a cause of severe fetal thrombocytopenia, with the common presentation being intracranial hemorrhage in the fetus, usually in the third trimester. A very unusual case of fetal anemia progressed to hydrops. This was further complicated by maternal Mirror syndrome and human chorionic gonadotropin–induced thyrotoxicosis. Without knowledge of etiology, and possibly due to associated cardiac dysfunction, fetal transfusion resulted in fetal demise. Subsequent testing revealed FNAIT as the cause of severe hemorrhagic anemia. In cases with fetal anemia without presence of red blood cell antibodies, FNAIT must be ruled out as a cause prior to performing fetal transfusion. Fetal heart may adapt differently to acute hemorrhagic anemia compared with a more subacute hemolytic anemia.

  20. EFEKTIFITAS COGNITIVE BEHAVIOURAL EDUCATIONAL INTERVENTION PADA PASIEN POST TRANS URETHERAL RESECTION OF THE PROSTATE DI RS PKU MUHAMMADIYAH BANTUL

    Directory of Open Access Journals (Sweden)

    Wantonoro Wantonoro

    2016-03-01

    Full Text Available This research aimed to show the effectiveness cognitive behavioural educational intervention (CBEI in post trans urethral resection of the prostate in PKU Muhammadiyah Bantul Hospital. The research design used Quasi-eksperiment; posttest only control group. Sample was taken by nonprobability sampling with accidental sampling method (on February-June 2015. There were 20 respondent have TURP procedure and which were divided into two groups. The t-test independent indicated a significant difference in pain respon in two groups (p=0,000. From this study, CBEI was recommended for pain management in patient with TURP.Keywords: cognitive behavioural educational intervention, pain, TURP

  1. The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome

    Directory of Open Access Journals (Sweden)

    Heta Huttunen

    2018-04-01

    Full Text Available ObjectiveTwo missense mutations in KCNQ1, an imprinted gene that encodes the alpha subunit of the voltage-gated potassium channel Kv7.1, cause autosomal dominant growth hormone deficiency and maternally inherited gingival fibromatosis. We evaluated endocrine features, birth size, and subsequent somatic growth of patients with long QT syndrome 1 (LQT1 due to loss-of-function mutations in KCNQ1.DesignMedical records of 104 patients with LQT1 in a single tertiary care center between 1995 and 2015 were retrospectively reviewed.MethodsClinical and endocrine data of the LQT1 patients were included in the analyses.ResultsAt birth, patients with a maternally inherited mutation (n = 52 were shorter than those with paternal inheritance of the mutation (n = 29 (birth length, −0.70 ± 1.1 SDS vs. −0.2 ± 1.0 SDS, P < 0.05. Further analyses showed, however, that only newborns (n = 19 of mothers who had received beta blockers during pregnancy were shorter and lighter at birth than those with paternal inheritance of the mutation (n = 29 (−0.89 ± 1.0 SDS vs. −0.20 ± 1.0 SDS, P < 0.05; and 3,173 ± 469 vs. 3,515 ± 466 g, P < 0.05. Maternal beta blocker treatment during the pregnancy was also associated with lower cord blood TSH levels (P = 0.011 and significant catch-up growth during the first year of life (Δ0.08 SDS/month, P = 0.004. Later, childhood growth of the patients was unremarkable.ConclusionLoss-of-function mutations in KCNQ1 are not associated with abnormalities in growth, whereas maternal beta blocker use during pregnancy seems to modify prenatal growth of LQT1 patients—a phenomenon followed by catch-up growth after birth.

  2. Polymorphic haplotypes on R408BW PKU and normal PAH chromosomes in Quebec and European populations

    Energy Technology Data Exchange (ETDEWEB)

    Byck, S.; Morgan, K.; Scriver, C.R. [McGill Univ., Montreal (Canada)] [and others

    1994-09-01

    The R408W mutation in the phenylalanine hydroxylase gene (PAH) is associated with haplotype 2.3 (RFLP haplotype 2, VNTR 3 of the HindIII system) in most European populations. Another chromosome, first observed in Quebec and then in northwest Europe, carries R408W on haplotype 1.8. The occurrence of the R408W mutation on two different PKU chromosomes could be the result of intragenic recombination, recurrent mutation or gene conversion. In this study, we analyzed both normal and R408W chromosomes carrying 1.8 and 2.3 haplotypes in Quebec and European populations; we used the TCTA{sub (n)} short tandem repeat sequence (STR) at the 5{prime} end of the PAH gene and the HindIII VNTR system at the 3{prime} end of the PAH gene to characterize chromosomes. Fourteen of sixteen R408W chromosomes from {open_quotes}Celtic{close_quotes} families in Quebec and the United Kingdom (UK) harbor a 244 bp STR allele; the remaining two chromosomes, carry a 240 bp or 248bp STR allele. Normal chromosomes (n=18) carry the 240 bp STR allele. R408W chromosomes are different from mutant H1.8 chromosomes; mutant H2.3 carries the 240 bp STR allele (14 of 16 chromosomes) or the 236 allele (2 of 16 chromosomes). The HindIII VNTR comprises variable numbers of 30 bp repeats (cassettes); the repeats also vary in nucleotide sequence. Variation clusters toward the 3{prime} end of cassettes and VNTRs. VNTR 3 alleles on normal H2 (n=9) and mutant R408W H2 (n=19) chromosomes were identical. VNTR 8 alleles on normal H1 chromosomes (n=9) and on R408W H1 chromosomes (n=15) differ by 1 bp substitution near the 3{prime} end of the 6th cassette. In summary, the mutant H1.8 chromosome harboring the R408W mutation has unique features at both the 5{prime} and 3{prime} end of the gene that distinguish it from the mutant H2.3 and normal H1.8 and H2.3 counterparts. The explanation for the occurrence of R408W on two different PAH haplotypes is recurrent mutation affecting the CpG dinucleotide in PAH codon 408.

  3. Maternal Perceptions of the Importance of Needs and Resources for Children with Asperger Syndrome and Nonverbal Learning Disorders.

    Science.gov (United States)

    Little, Liza

    2003-01-01

    A survey examined the perceptions of 404 mothers on the availability and importance of various resources for their children (ages 4-17) with Asperger syndrome or nonverbal learning disorder. A significant number (20-30%) reported that pragmatics training, social skills training, smaller classes, or a trained aide were not made available. (Contains…

  4. Number and sequence of preceding miscarriages and maternal age for the prediction of antiphospholipid syndrome in women with recurrent miscarriage.

    NARCIS (Netherlands)

    Boogaard, E. van den; Cohn, D.M.; Korevaar, J.C.; Dawood, F.; Vissenberg, R.; Middeldorp, S.; Goddijn, M.; Farquharson, R.G.

    2013-01-01

    Objective: To investigate the relationship between the number and sequence of preceding miscarriages and antiphospholipid syndrome (APS). Design: Retrospective cohort study. Setting: Recurrent miscarriage (RM) clinic. Patient(s): Women who attended the RM clinic from 1988 to 2006. Intervention(s):

  5. Effect of maternal probiotic intervention on HPA axis, immunity and gut microbiota in a rat model of irritable bowel syndrome.

    Directory of Open Access Journals (Sweden)

    Javad Barouei

    Full Text Available OBJECTIVE: To examine whether maternal probiotic intervention influences the alterations in the brain-immune-gut axis induced by neonatal maternal separation (MS and/or restraint stress in adulthood (AS in Wistar rats. DESIGN: Dams had free access to drinking water supplemented with Bifidobacterium animalis subsp lactis BB-12® (3 × 10(9 CFU/mL and Propionibacterium jensenii 702 (8.0 × 10(8 CFU/mL from 10 days before conception until postnatal day (PND 22 (weaning day, or to control ad lib water. Offspring were subjected to MS from PND 2 to 14 or left undisturbed. From PND 83 to 85, animals underwent 30 min/day AS, or were left undisturbed as controls. On PND 24 and 86, blood samples were collected for corticosterone, ACTH and IgA measurement. Colonic contents were analysed for the composition of microflora and luminal IgA levels. RESULTS: Exposure to MS significantly increased ACTH levels and neonatal fecal counts of aerobic and anaerobic bacteria, E. coli, enterococci and clostridia, but reduced plasma IgA levels compared with non-MS animals. Animals exposed to AS exhibited significantly increased ACTH and corticosterone levels, decreased aerobic bacteria and bifidobacteria, and increased Bacteroides and E. coli counts compared to non-AS animals. MS coupled with AS induced significantly decreased anaerobes and clostridia compared with the non-stress adult controls. Maternal probiotic intervention significantly increased neonatal corticosterone levels which persisted until at least week 12 in females only, and also resulted in elevated adult ACTH levels and altered neonatal microflora comparable to that of MS. However, it improved plasma IgA responses, increased enterococci and clostridia in MS adults, increased luminal IgA levels, and restored anaerobes, bifidobacteria and E. coli to normal in adults. CONCLUSION: Maternal probiotic intervention induced activation of neonatal stress pathways and an imbalance in gut microflora. Importantly

  6. Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat.

    Science.gov (United States)

    Matsubara, K; Murakami, N; Fukami, M; Kagami, M; Nagai, T; Ogata, T

    2016-05-01

    Recent studies have suggested that disomic oocyte-mediated uniparental disomy 15 (UPD(15)mat) is increased in patients with Prader-Willi syndrome (PWS) born after medically assisted reproduction (MAR). However, it remains unknown whether the increase is primarily due to MAR procedure itself or advanced maternal childbearing ages as a predisposing factor for the disomic oocyte production. To examine this matter, we studied 122 naturally conceived PWS patients (PWS-NC group) and 13 MAR-conceived patients (PWS-MAR group). The relative frequency of disomic oocyte-mediated UPD(15)mat was significantly higher in PWS-MAR group than in PWS-NC group (7/13 vs 20/122, p = 0.0045), and the maternal childbearing ages were significantly higher in PWS-MAR group than in PWS-NC group [median (range), 38 (26-45) vs 30 (19-42), p = 0.0015]. However, the logistic regression analysis revealed no significant association between the occurrence of disomic oocyte-mediated UPD(15)mat and MAR, after adjusting for childbearing age (p = 0.25). Consistent with this, while the frequency of assisted reproductive technology (ART)-conceived livebirths was higher in the PWS patients than in the Japanese general population (6.4% vs 1.1%, p = 0.00018), the distribution of childbearing ages was significantly skewed to the increased ages in the PWS patients (p < 2.2 × 10(-16) ). These results argue against a positive association of MAR procedure itself with the development of UPD(15)mat. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Metabolic syndrome in children and adolescents with phenylketonuria

    Directory of Open Access Journals (Sweden)

    Viviane C. Kanufre

    2015-02-01

    Full Text Available OBJECTIVE: This study aimed to identify markers of metabolic syndrome (MS in patients with phenylketonuria (PKU. METHODS: This was a cross-sectional study consisting of 58 PKU patients (ages of 4-15 years: 29 patients with excess weight, and 29 with normal weight. The biochemical variables assessed were phenylalanine (phe, total cholesterol, HDL-c, triglycerides, glucose, and basal insulin. The patients had Homeostasis Model Assessment (HOMA and waist circumference assessed. RESULTS: No inter-group difference was found for phe. Overweight patients had higher levels of triglycerides, basal insulin, and HOMA, but lower concentrations of HDL-cholesterol, when compared to the eutrophic patients. Total cholesterol/HDL-c was significantly higher in the overweight group. A positive correlation between basal insulin level and HOMA with waist circumference was found only in the overweight group. CONCLUSION: The results of this study suggest that patients with PKU and excess weight are potentially vulnerable to the development of metabolic syndrome. Therefore, it is necessary to conduct clinical and laboratory monitoring, aiming to prevent metabolic changes, as well as excessive weight gain and its consequences, particularly cardiovascular risk.

  8. Metabolic syndrome in children and adolescents with phenylketonuria.

    Science.gov (United States)

    Kanufre, Viviane C; Soares, Rosângelis D L; Alves, Michelle Rosa A; Aguiar, Marcos J B; Starling, Ana Lúcia P; Norton, Rocksane C

    2015-01-01

    This study aimed to identify markers of metabolic syndrome (MS) in patients with phenylketonuria (PKU). This was a cross-sectional study consisting of 58 PKU patients (ages of 4-15 years): 29 patients with excess weight, and 29 with normal weight. The biochemical variables assessed were phenylalanine (phe), total cholesterol, HDL-c, triglycerides, glucose, and basal insulin. The patients had Homeostasis Model Assessment (HOMA) and waist circumference assessed. No inter-group difference was found for phe. Overweight patients had higher levels of triglycerides, basal insulin, and HOMA, but lower concentrations of HDL-cholesterol, when compared to the eutrophic patients. Total cholesterol/HDL-c was significantly higher in the overweight group. A positive correlation between basal insulin level and HOMA with waist circumference was found only in the overweight group. The results of this study suggest that patients with PKU and excess weight are potentially vulnerable to the development of metabolic syndrome. Therefore, it is necessary to conduct clinical and laboratory monitoring, aiming to prevent metabolic changes, as well as excessive weight gain and its consequences, particularly cardiovascular risk. Copyright © 2014 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  9. Type 2 porcine reproductive and respiratory syndrome virus infection increases apoptosis at the maternal-fetal interface in late gestation pregnant gilts.

    Directory of Open Access Journals (Sweden)

    Predrag Novakovic

    Full Text Available The pathogenesis of fetal death associated with porcine reproductive and respiratory syndrome (PRRS is hypothesized to be a consequence of PRRS virus-induced apoptosis at the maternal-fetal interface (MFI. The objectives of this study were to evaluate distribution and degree of apoptosis in the uterine and fetal placental tissues during the experimental type 2 PRRS virus (PRRSV infection and determine associations between apoptosis at the MFI, PRRSV RNA concentration and antigen staining intensity, PRRSV-induced microscopic lesions, and fetal preservation status. A total of 114 naïve, high-health pregnant gilts were inoculated with type 2 PRRSV on gestation day 85±1 with euthanasia 21 days later; 19 sham-inoculated gilts served as controls. Two hundred and fifty samples of uterine tissue with fetal placenta were selected based on negative, low PRRSV RNA, and high PRRSV RNA concentration (0, 2.7 log10 copies/mg, respectively. TUNEL assay was used to detect apoptosis in the endometrium and at the MFI. PRRSV RNA concentration and numbers of PRRSV immunopositive cells in uterine and placental tissue were positively associated with the severity of apoptosis in the endometrium and the MFI (P<0.001, P<0.05 and P<0.001, respectively. The number of TUNEL positive cells at the MFI was also positively associated with the severity (P<0.001 of vasculitis, but not total numbers of inflammatory cells in the endometrium. Increased numbers of TUNEL positive cells at the MFI were associated with PRRSV load in the fetal thymus, and greater odds of meconium staining of the fetus at 21 days post infection (P<0.001 for both. These findings suggest an important role of apoptosis in the pathogenesis of uterine epithelial and trophoblastic cell death at the MFI. Moreover, apoptosis at the MFI is significantly associated with fetal demise during in utero type 2 PRRSV infection.

  10. Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study.

    Science.gov (United States)

    Jahja, Rianne; van Spronsen, Francjan J; de Sonneville, Leo M J; van der Meere, Jaap J; Bosch, Annet M; Hollak, Carla E M; Rubio-Gozalbo, M Estela; Brouwers, Martijn C G J; Hofstede, Floris C; de Vries, Maaike C; Janssen, Mirian C H; van der Ploeg, Ans T; Langendonk, Janneke G; Huijbregts, Stephan C J

    2017-09-01

    Cognitive and mental health problems in individuals with the inherited metabolic disorder phenylketonuria (PKU) have often been associated with metabolic control and its history. For the present study executive functioning (EF) was assessed in 21 PKU patients during childhood (T1, mean age 10.4 years, SD = 2.0) and again in adulthood (T2, mean age 25.8 years, SD = 2.3). At T2 additional assessments of EF in daily life and mental health were performed. Childhood (i.e. 0-12 years) blood phenylalanine was significantly related to cognitive flexibility, executive motor control, EF in daily life and mental health in adulthood (i.e. at T2). Patients with a greater increase in phenylalanine levels after the age of 12 performed more poorly on EF-tasks at T2. Group-based analyses showed that patients with phenylalanine <360 µmol/L in childhood and phenylalanine ≥360 µmol/L from age 13 onwards (n = 11) had better cognitive flexibility and executive motor control than those who had phenylalanine ≥360 µmol/L throughout life (n = 7), supporting the notion that phenylalanine should be below the recommended upper treatment target of 360 µmol/L during childhood for better outcome in adulthood. Despite some results indicating additional influence of phenylalanine levels between 13 and 17 years of age, evidence for a continued influence of phenylalanine levels after childhood on adult outcomes was largely lacking. This may be explained by the fact that the patients in the present study had relatively low phenylalanine levels during childhood (mean: 330 µmol/L, range: 219-581 µmol/L) and thereafter (mean Index of Dietary Control at T2: 464 µmol/L, range: 276-743 µmol/L), which may have buffered against transitory periods of poor metabolic control during adolescence and early adulthood.

  11. CW/Pulsed H- ion beam generation with PKU Cs-free 2.45 GHz microwave driven ion source

    Science.gov (United States)

    Peng, S. X.; Ren, H. T.; Xu, Y.; Zhang, T.; Zhang, A. L.; Zhang, J. F.; Zhao, J.; Guo, Z. Y.; Chen, J. E.

    2015-04-01

    Circular accelerators used for positron emission tomography (PET, i.e. accelerator used for make radio isotopes) need several mA of CW H- ion beam for their routine operation. Other facilities, like Space Radio-Environment Simulate Assembly (SPRESA), require less than 10 mA pulsed mode H- beam. Caesium free negative hydrogen ion source is a good choice for those facilities because of its compact structure, easy operation and low cost. Up to now, there is no H- source able to produce very intense H- beams with important variation of the duty factor[1]. Recently, a new version of 2.45 GHz microwave H- ion source was designed at PKU, based on lessons learnt from the previous one. This non cesiated source is very compact thanks to its permanent magnet configuration. Special attention was paid on the design of the discharge chamber structure, electron dumping and extraction system. Source test to produce H- ion beams in pulsed and CW mode was carried out on PKU ion source test bench. In CW mode, a 10.8 mA/30keV H- beam with rms emittance about 0.16 π.mm.mrad has been obtained with only 500 W rf power. The power efficiency reaches 21 mA/kW. In pulsed mode with duty factor of 10% (100Hz/1ms), this compact source can easily deliver 20 mA H- ion beam at 35 keV with rms emittance about 0.2 π.mm.mrad when RF power is set at 2.2 kW (peak power). Several hour successive running operation in both modes and totaling more than 200 hours proves its high quality. The outside dimension of this new H- source body is ϕ116 mm × 124 mm, and the entire H- source infrastructure, including rf matching section, plasma chamber and extraction system, is ϕ310 × 180 mm. The high voltage region is limited with in a ϕ310 mm × 230 mm diagram. Details are given in this paper.

  12. Performance of first-trimester combined test for Down syndrome in different maternal age groups: reason for adjustments in screening policy?

    NARCIS (Netherlands)

    Engels, Melanie A. J.; Heijboer, A. C.; Blankenstein, Marinus A.; van Vugt, John M. G.

    2011-01-01

    To evaluate the performance of the first-trimester combined test (FCT) in different maternal age groups and to discuss whether adjustments in screening policies should be made. In this retrospective study data (n = 26 274) from a fetal medicine center on FCT (maternal age, fetal NT, free β-human

  13. Maternal and Perinatal Outcomes among Eclamptic Patients ...

    African Journals Online (AJOL)

    HP

    1Department of Obstetrics and Gynaecology, Bugando Medical Centre, Mwanza, ... (10.5%), pulmonary oedema (10.5%), maternal stroke (8.8%), HELLP syndrome (50.9%), and Disseminated ..... health care services and medical attention.

  14. Maternal burn-out: an exploratory study.

    Science.gov (United States)

    Séjourné, N; Sanchez-Rodriguez, R; Leboullenger, A; Callahan, S

    2018-02-21

    Maternal burn-out is a psychological, emotional and physiological condition resulting from the accumulation of various stressors characterised by a moderate but also a chronic and repetitive dimension. Little research has focused on this syndrome. The current study aims to assess maternal burn-out rate and to identify factors associated with this state of exhaustion. 263 French mothers aged between 20 and 49 years answered five scales quantifying maternal burn-out, perceived social support, parental stress, depression and anxiety symptoms and history of postnatal depression. About 20% of mothers were affected by maternal burn-out. The main factors related to maternal burn-out were having a child perceived as difficult, history of postnatal depression, anxiety, satisfaction of a balance between professional and personal life and parental stress. This research shows the need for further work on maternal burn-out to better understand and prevent this syndrome.

  15. Low-Dose Gene Therapy for Murine PKU Using Episomal Naked DNA Vectors Expressing PAH from Its Endogenous Liver Promoter

    Directory of Open Access Journals (Sweden)

    Hiu Man Grisch-Chan

    2017-06-01

    Full Text Available Limited duration of transgene expression, insertional mutagenesis, and size limitations for transgene cassettes pose challenges and risk factors for many gene therapy vectors. Here, we report on physiological expression of liver phenylalanine hydroxylase (PAH by delivery of naked DNA/minicircle (MC-based vectors for correction of homozygous enu2 mice, a model of human phenylketonuria (PKU. Because MC vectors lack a defined size limit, we constructed a MC vector expressing a codon-optimized murine Pah cDNA that includes a truncated intron and is under the transcriptional control of a 3.6-kb native Pah promoter/enhancer sequence. This vector, delivered via hydrodynamic injection, yielded therapeutic liver PAH activity and sustained correction of blood phenylalanine comparable to viral or synthetic liver promoters. Therapeutic efficacy was seen with vector copy numbers of 95% loss of vector genomes and PAH activity in liver, demonstrating that MC vectors had not integrated into the liver genome. In conclusion, MC vectors, which do not have a defined size-limitation, offer a favorable safety profile for hepatic gene therapy due to their non-integration in combination with native promoters.

  16. FUNCTIONAL STATUS IN PATIENTS WITH CHRONIC KIDNEY DISEASE BEING TREATED WITH HEMODIALYSIS IN PKU MUHAMMADIYAH HOSPITAL, YOGYAKARTA, INDONESIA

    Directory of Open Access Journals (Sweden)

    Adiyati Mardiyah

    2017-08-01

    Full Text Available Background: Hemodialysis process is useful for patients with end-stage renal disease. However, this is a situation of abject dependence on a machine, a procedure and a group of qualified medical professionals for the rest of their lives that may influence their functional status. Objective: This study aims to describe the functional status of patients with chronic kidney disease undergoing hemodialysis. Method: This was a descriptive study with cross-sectional design, which conducted in the PKU Muhammadiyah Hospital Yogyakarta on March 2017. There were 78 patients selected using purposive sampling. Functional status was measured using SF-36 questionnaire. Descriptive statistic was performed for data analysis Result:. The total average of functional status level was 42.92, with Physical Component Scale (PCS of 42.31 and Mental Component Scale (MCS of 45.78. Conclusion: There were functional deficiencies in both physical and mental status in patients with CKD undergoing hemodialysis. Thus, it is suggested that pharmacological management of these patients need stringent monitoring on part of the psychiatrist to deal with mental health problems, and the interdisciplinary team need to do great efforts to improve functional status and quality of life of patients with CKD.

  17. PROFIL URINALISIS PENGGUNAAN IMUNAX PADA PASIEN DIABETES MELITUS (DM RAWAT JALAN DI RSU PKU MUHAMMADIYAH BANTUL

    Directory of Open Access Journals (Sweden)

    Adnan

    2018-03-01

    Full Text Available Diabetes mellitus (DM is a metabolic disease characterized by the onset of hyperglycemia due to secretion disorders, as well as resistance of insulin. Chronic hyperglycemic and other DM metabolic disorders will cause tissue and organ damage, such as the eyes, kidneys and vascular system. Some studies show that immunax (MBJH: minyak biji jinten hitam has antidibetic benefits. This study aims to determine the description of urinalysis and proteinuria in DM patients who get immunax. The study design was randomized controlled trial. MBJH is given in 2 dosage levels, 2x1 soft capsule and 2x2 soft capsul given for 20 days on the subject. Urine data taken before and after administration of immunax preparations. The results showed that based on sex, age, education, occupation, marital status and the type of therapy used there was no significant difference in the characteristics and types of therapy used by the study subjects (patients at risk of metabolic syndrome between the treatment groups and the placebo group. The result of urinalysis test showed that there was no difference of urinalysis image in the three groups. The conclusion of this study was that there was no significant effect (p value> 0,05 on immunax (MBJH on the urinalysis profile in patients with metabolic syndrome risk, both dose 2x1, 2x2, and control group

  18. [Maternal phenylketonuria].

    Science.gov (United States)

    Bókay, János; Kiss, Erika; Simon, Erika; Szőnyi, László

    2013-05-05

    Elevated maternal phenylalanine levels during pregnancy are teratogenic, and may result in embryo-foetopathy, which could lead to stillbirth, significant psychomotor handicaps and birth defects. This foetal damage is known as maternal phenylketonuria. Women of childbearing age with all forms of phenylketonuria, including mild variants such as hyperphenylalaninaemia, should receive detailed counselling regarding their risks for adverse foetal effects, optimally before contemplating pregnancy. The most assured way to prevent maternal phenylketonuria is to maintain the maternal phenylalanine levels within the optimal range already before conception and throughout the whole pregnancy. Authors review the comprehensive programme for prevention of maternal phenylketonuria at the Metabolic Center of Budapest, they survey the practical approach of the continuous maternal metabolic control and delineate the outcome of pregnancies of mothers with phenylketonuria from the introduction of newborn screening until most recently.

  19. Co-variables in first trimester maternal serum screening

    NARCIS (Netherlands)

    de Graaf, I. M.; Cuckle, H. S.; Pajkrt, E.; Leschot, N. J.; Bleker, O. P.; van Lith, J. M.

    2000-01-01

    The objective of this study was to determined the influence of maternal weight, maternal smoking habits, gravidity, parity and fetal gender on the level of maternal serum marker used in first trimester screening for Down syndrome. A total of 2449 singleton unaffected pregnancies from two centres

  20. Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.

    Science.gov (United States)

    van Spronsen, F J; van Rijn, M; Dorgelo, B; Hoeksma, M; Bosch, A M; Mulder, M F; de Klerk, J B C; de Koning, T; Rubio-Gozalbo, M Estela; de Vries, M; Verkerk, P H

    2009-02-01

    The clinical severity of phenylalanine hydroxylase deficiency is usually defined by either pre-treatment phenylalanine (Phe) concentration or Phe tolerance at 5 years of age. So far, little is known about the course of Phe tolerance or the ability of both pre-treatment Phe and Phe tolerance at early age to predict Phe tolerance at later age. This study was conducted to investigate the course of the individual Phe tolerance and to assess the predictive value of both the pre-treatment Phe concentration and Phe tolerance at 1 and 6 months and 1, 2, 3 and 5 years for Phe tolerance at 10 years of age. Data on blood Phe concentration, prescribed Phe intake and weight of 213 early and continuously treated Dutch PKU patients up to 10 years of age were collected. Data acquired under good metabolic control were used in the study. Tolerance was expressed in mg/day and mg/kg per day. Data at 1 and 6 months and at 1, 2, 3 and 5 years of 61, 58, 59, 57, 56 and 59 patients were included for comparison with the Phe tolerance at 10 years. Phe tolerances (mg/kg per day) at 2, 3 and 5 years showed a clear correlation with the tolerance at 10 years of age (r = 0.608, r = 0.725 and r = 0.661). Results for tolerance expressed as mg/day were comparable. Pre-treatment Phe concentrations did not correlate significantly with the tolerance. Pre-treatment Phe is unreliable but Phe tolerance is a reliable predictor of the tolerance at 10 years of age, starting at 2 years of age.

  1. Analisis Pengaruh Stres Kerja dalam Memediasi Hubungan Antara Politik Organisasional dengan Perilaku Agresif (Studi Kasus pada RS PKU Muhammadiyah dan DKT Di Yogyakarta

    Directory of Open Access Journals (Sweden)

    Yuni Siswanti

    2009-05-01

    Full Text Available This research aim to test the impact of organizational politics to job distress and aggressive behavior, and research mediation effect job distress of relation of organizational politics and aggressive behavior. The data were collected from two hospitals, are PKU and DKT in Jogjakarta from nurses. Total respondent were 86 peoples. Regression and hierarchical regression Analysis (HRA analyzed the data. The interesting result that organizational politics was direct effected to job distress, but wasn’t direct effected to aggressive behavior. The research has succeeded establish that job distress as mediator variable in the relation of organizational politics and aggressive behavior.Keywords:  organizational behavior, job distress, aggressive behavior

  2. Comparison of Glycomacropeptide with Phenylalanine Free-Synthetic Amino Acids in Test Meals to PKU Patients: No Significant Differences in Biomarkers, Including Plasma Phe Levels

    Directory of Open Access Journals (Sweden)

    Kirsten K. Ahring

    2018-01-01

    Full Text Available Introduction. Management of phenylketonuria (PKU is achieved through low-phenylalanine (Phe diet, supplemented with low-protein food and mixture of free-synthetic (FS amino acid (AA. Casein glycomacropeptide (CGMP is a natural peptide released in whey during cheese-making and does not contain Phe. Lacprodan® CGMP-20 used in this study contained a small amount of Phe due to minor presence of other proteins/peptides. Objective. The purpose of this study was to compare absorption of CGMP-20 to FSAA with the aim of evaluating short-term effects on plasma AAs as well as biomarkers related to food intake. Methods. This study included 8 patients, who had four visits and tested four drink mixtures (DM1–4, consisting of CGMP, FSAA, or a combination. Plasma blood samples were collected at baseline, 15, 30, 60, 120, and 240 minutes (min after the meal. AA profiles and ghrelin were determined 6 times, while surrogate biomarkers were determined at baseline and 240 min. A visual analogue scale (VAS was used for evaluation of taste and satiety. Results. The surrogate biomarker concentrations and VAS scores for satiety and taste were nonsignificant between the four DMs, and there were only few significant results for AA profiles (not Phe. Conclusion. CGMP and FSAA had the overall same nonsignificant short-term effect on biomarkers, including Phe. This combination of FSAA and CGMP is a suitable supplement for PKU patients.

  3. Bifidobacterium breve with α-linolenic acid and linoleic acid alters fatty acid metabolism in the maternal separation model of irritable bowel syndrome.

    Science.gov (United States)

    Barrett, Eoin; Fitzgerald, Patrick; Dinan, Timothy G; Cryan, John F; Ross, R Paul; Quigley, Eamonn M; Shanahan, Fergus; Kiely, Barry; Fitzgerald, Gerald F; O'Toole, Paul W; Stanton, Catherine

    2012-01-01

    The aim of this study was to compare the impact of dietary supplementation with a Bifidobacterium breve strain together with linoleic acid & α-linolenic acid, for 7 weeks, on colonic sensitivity and fatty acid metabolism in rats. Maternally separated and non-maternally separated Sprague Dawley rats (n = 15) were orally gavaged with either B. breve DPC6330 (10(9) microorganisms/day) alone or in combination with 0.5% (w/w) linoleic acid & 0.5% (w/w) α-linolenic acid, daily for 7 weeks and compared with trehalose and bovine serum albumin. Tissue fatty acid composition was assessed by gas-liquid chromatography and visceral hypersensitivity was assessed by colorectal distension. Significant differences in the fatty acid profiles of the non-separated controls and maternally separated controls were observed for α-linolenic acid and arachidonic acid in the liver, oleic acid and eicosenoic acid (c11) in adipose tissue, and for palmitoleic acid and docosahexaenoic acid in serum (pbreve DPC6330 to MS rats significantly increased palmitoleic acid, arachidonic acid and docosahexaenoic acid in the liver, eicosenoic acid (c11) in adipose tissue and palmitoleic acid in the prefrontal cortex (pbreve DPC6330 to non separated rats significantly increased eicosapentaenoic acid and docosapentaenoic acid in serum (pbreve DPC6330 in combination with linoleic acid and α-linolenic acid to maternally separated rats significantly increased docosapentaenoic acid in the serum (pbreve DPC6330 with fatty acid supplementation to non-separated rats significantly increased liver and serum docosapentaenoic acid (pbreve DPC6330 influenced host fatty acid metabolism. Administration of B. breve DPC6330 to maternally separated rats significantly modified the palmitoleic acid, arachidonic acid and docosahexaenoic acid contents in tissues. The effect was not observed in non-separated animals.

  4. Nádory děložního čípku, jejich terapie a vyšetření nádorových markerů

    Czech Academy of Sciences Publication Activity Database

    Nekulová, M.; Kalábová, R.; Pecen, Ladislav; Šimíčková, M.; Neumannová, R.; Valík, D.

    -, č. 4 (2003), s. 4-6 ISSN 1211-5665 Institutional research plan: CEZ:AV0Z1030915 Keywords : nádorové markery * terapie * nádor děložního čípku * nádory vaječníků Subject RIV: BB - Applied Statistics, Operational Research

  5. Metabolic syndrome in children and adolescents with phenylketonuria

    Directory of Open Access Journals (Sweden)

    Viviane C. Kanufre

    2015-01-01

    Full Text Available Objective: This study aimed to identify markers of metabolic syndrome (MS in patients with phenylketonuria (PKU. Methods: This was a cross-sectional study consisting of 58 PKU patients (ages of 4-15 years: 29 patients with excess weight, and 29 with normal weight. The biochemical variables assessed were phenylalanine (phe, total cholesterol, HDL-c, triglycerides, glucose, and basal insulin. The patients had Homeostasis Model Assessment (HOMA and waist circumference assessed. Results: No inter-group difference was found for phe. Overweight patients had higher levels of triglycerides, basal insulin, and HOMA, but lower concentrations of HDL-cholesterol, when compared to the eutrophic patients. Total cholesterol/HDL-c was significantly higher in the overweight group. A positive correlation between basal insulin level and HOMA with waist circumference was found only in the overweight group. Conclusion: The results of this study suggest that patients with PKU and excess weight are potentially vulnerable to the development of metabolic syndrome. Therefore, it is necessary to conduct clinical and laboratory monitoring, aiming to prevent metabolic changes, as well as excessive weight gain and its consequences, particularly cardiovascular risk. Resumo: Objetivo: Determinar marcadores bioquímicos da síndrome metabólica em pacientes com PKU. Métodos: Foram avaliados dois grupos de pacientes com PKU, 4 a 15 anos de idade, com excesso de peso (29 e eutróficos (29. As variáveis bioquímicas avaliadas foram a fenilalanina (phe, colesterol total, HDL-c, triglicérides, glicose e insulina basal. Foi determinado o HOMA e mensurada a circunferência da cintura. Resultados: As concentrações de phe, de colesterol total e de glicose foram equivalentes entre os grupos. Os pacientes com excesso de peso apresentaram maiores concentrações de triglicérides, de insulina basal, maiores valores da determinação do HOMA, menores concentrações de HDL colesterol e

  6. Bifidobacterium breve with α-linolenic acid and linoleic acid alters fatty acid metabolism in the maternal separation model of irritable bowel syndrome.

    Directory of Open Access Journals (Sweden)

    Eoin Barrett

    Full Text Available The aim of this study was to compare the impact of dietary supplementation with a Bifidobacterium breve strain together with linoleic acid & α-linolenic acid, for 7 weeks, on colonic sensitivity and fatty acid metabolism in rats. Maternally separated and non-maternally separated Sprague Dawley rats (n = 15 were orally gavaged with either B. breve DPC6330 (10(9 microorganisms/day alone or in combination with 0.5% (w/w linoleic acid & 0.5% (w/w α-linolenic acid, daily for 7 weeks and compared with trehalose and bovine serum albumin. Tissue fatty acid composition was assessed by gas-liquid chromatography and visceral hypersensitivity was assessed by colorectal distension. Significant differences in the fatty acid profiles of the non-separated controls and maternally separated controls were observed for α-linolenic acid and arachidonic acid in the liver, oleic acid and eicosenoic acid (c11 in adipose tissue, and for palmitoleic acid and docosahexaenoic acid in serum (p<0.05. Administration of B. breve DPC6330 to MS rats significantly increased palmitoleic acid, arachidonic acid and docosahexaenoic acid in the liver, eicosenoic acid (c11 in adipose tissue and palmitoleic acid in the prefrontal cortex (p<0.05, whereas feeding B. breve DPC6330 to non separated rats significantly increased eicosapentaenoic acid and docosapentaenoic acid in serum (p<0.05 compared with the NS un-supplemented controls. Administration of B. breve DPC6330 in combination with linoleic acid and α-linolenic acid to maternally separated rats significantly increased docosapentaenoic acid in the serum (p<0.01 and α-linolenic acid in adipose tissue (p<0.001, whereas feeding B. breve DPC6330 with fatty acid supplementation to non-separated rats significantly increased liver and serum docosapentaenoic acid (p<0.05, and α-linolenic acid in adipose tissue (p<0.001. B. breve DPC6330 influenced host fatty acid metabolism. Administration of B. breve DPC6330 to maternally separated

  7. Learning about Phenylketonuria (PKU)

    Science.gov (United States)

    Skip to main content Learning About Phenylketonuria Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research News ...

  8. How Is PKU Monitored?

    Science.gov (United States)

    ... important components of the clinic visit at the University of Washington. Food records are usually a 3 day diary of all foods and beverages eaten and the amounts consumed. These diaries should ...

  9. Evaluasi Pelaksanaan Sasaran Keselamatan Pasien Sesuai Akreditasi Rumah Sakit Versi 2012 di Rumah Sakit Khusus Ibu dan Anak PKU Muhammadiyah Kotagede Yogyakarta

    Directory of Open Access Journals (Sweden)

    Totok Sundoro

    2018-01-01

    Full Text Available The purpose of this study was to knowing description (policy, implementation, barriers, recommendation on compliance efforts in patient safety goals RSKIA PKU Muhammadiyah Yogyakarta Kota Gede. Qualitative research with case study design (case study. Subjects were hospital management, the staff of the hospital and the patient. The study object is the implementation of Patient Safety Goals Hospital Accreditation Hospital In Version 2012. Policy and implementation for the implementation of 6 targets have not been fully made patient safety and well-executed yet because there are still adhere to standards that do not, do not know the rules, socialization, and motivation are lacking and there is no management support. Recommendation needs to be done is the hospital management and the need to formulate a policy direction that comes with phasing as a guide to target patient safety in hospitals.

  10. Maternal phenylketonuria

    Directory of Open Access Journals (Sweden)

    Kristina Štuikienė

    2013-04-01

    Full Text Available Phenylketonuria is a hereditary metabolic disorder inherited in an autosomal recessive pattern. Elevated phenylalanine levels in a pregnant woman with phenylketonuria result in phenylalanine embryopathy. Failure to follow special diets during gestation results in neonatal dysplasia. More favorable outcomes are observed when phenylalanine levels remain within normal ranges prior to conception, or at least when they reach normal levels by the 4th-10th weeks of gestation. We report the case of a newborn with maternal phenylketonuria.

  11. Mouse breast cancer model-dependent changes in metabolic syndrome-associated phenotypes caused by maternal dioxin exposure and dietary fat

    Science.gov (United States)

    La Merrill, Michele; Baston, David S.; Denison, Michael S.; Birnbaum, Linda S.; Pomp, Daniel; Threadgill, David W.

    2009-01-01

    Diets high in fat are associated with increased susceptibility to obesity and metabolic syndrome. Increased adipose tissue that is caused by high-fat diets (HFD) results in altered storage of lipophilic toxicants like 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD), which may further increase susceptibility to metabolic syndrome. Because both TCDD and HFD are associated with increased breast cancer risk, we examined their effects on metabolic syndrome-associated phenotypes in three mouse models of breast cancer: 7,12-dimethylbenz[a]anthracene (DMBA), Tg(MMTV-Neu)202Mul/J (HER2), and TgN(MMTV-PyMT)634Mul/J (PyMT), all on an FVB/N genetic background. Pregnant mice dosed with 1 μg/kg of TCDD or vehicle on gestational day 12.5 were placed on a HFD or low-fat diet (LFD) at parturition. Body weights, percent body fat, and fasting blood glucose were measured longitudinally, and triglycerides were measured at study termination. On HFD, all cancer models reached the pubertal growth spurt ahead of FVB controls. Among mice fed HFD, the HER2 model had a greater increase in body weight and adipose tissue from puberty through adulthood compared with the PyMT and DMBA models. However, the DMBA model consistently had higher fasting blood glucose levels than the PyMT and HER2 models. TCDD only impacted serum triglycerides in the PyMT model maintained on HFD. Because the estrogenic activity of the HFD was three times lower than that of the LFD, differential dietary estrogenic activities did not drive the observed phenotypic differences. Rather, the HFD-dependent changes were cancer model dependent. These results show that cancer models can have differential effects on metabolic syndrome-associated phenotypes even before cancers arise. PMID:18840765

  12. Maternal immunocompetence

    International Nuclear Information System (INIS)

    Harrison, M.R.

    1976-01-01

    The studies of distribution patterns of 51 Cr-labelled lymphocytes in pregnant mice were designed to explore the effect of pregnancy on the immunologic behaviour of the intact pregnant animal rather than on the isolated maternal lymphocyte. The distribution pattern of 51 Cr-labelled syngenic and semiallogenic lymphocytes was studied in intact primigravida mice, and there was no difference between interstrain and intrastrain pregnant mice, and there was no evidence of immunologically specific 'trapping' in the para-aortic lymph nodes draining the interstrain pregnant uterus. There is little evidence that the primigravida animal is even immunologically aware of the 'foreignness'of a semiallogenic fetus. (JIW)

  13. Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.

    Science.gov (United States)

    Uittenbogaard, Martine; Brantner, Christine A; Fang, ZiShui; Wong, Lee-Jun C; Gropman, Andrea; Chiaramello, Anne

    2018-03-27

    In this study, we report a novel perpective of metabolic consequences for the m.8993T>G variant using fibroblasts from a proband with clinical symptoms compatible with Maternally Inherited Leigh Syndrome (MILS). Definitive diagnosis was corroborated by mitochondrial DNA testing for the pathogenic variant m.8993T>G in MT-ATP6 subunit by Sanger sequencing. The long-range PCR followed by massively parallel sequencing method detected the near homoplasmic m.8993T>G variant at 83% in the proband's fibroblasts and at 0.4% in the mother's fibroblasts. Our results are compatible with very low levels of germline heteroplasmy or an apparent de novo mutation. Our mitochondrial morphometric analysis reveals severe defects in mitochondrial cristae structure in the proband's fibroblasts. Our live-cell mitochondrial respiratory analyses show impaired oxidative phosphorylation with decreased spare respiratory capacity in response to energy stress in the proband's fibroblasts. We detected a diminished glycolysis with a lessened glycolytic capacity and reserve, revealing a stunted ability to switch to glycolysis upon full inhibition of OXPHOS activities. This dysregulated energy reprogramming results in a defective interplay between OXPHOS and glycolysis during an energy crisis. Our study sheds light on the potential pathophysiologic mechanism leading to chronic energy crisis in this MILS patient harboring the m.8993T>G variant. Copyright © 2018 Elsevier Inc. All rights reserved.

  14. Cushing's syndrome in pregnancy.

    Science.gov (United States)

    Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

    2015-02-01

    Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation.

  15. Maternal and Perinatal Outcomes among Eclamptic Patients ...

    African Journals Online (AJOL)

    , pulmonary oedema (10.5%), maternal stroke (8.8%), HELLP syndrome (50.9%), and Disseminated Intravascular Coagulopathy (3.5%). Perinatal deaths were caused by prematurity (42.9%) and birth asphyxia (57.1%). Forty-eight babies had ...

  16. Prenatal Screening Using Maternal Markers

    Directory of Open Access Journals (Sweden)

    Howard Cuckle

    2014-05-01

    Full Text Available Maternal markers are widely used to screen for fetal neural tube defects (NTDs, chromosomal abnormalities and cardiac defects. Some are beginning to broaden prenatal screening to include pregnancy complications such as pre-eclampsia. The methods initially developed for NTDs using a single marker have since been built upon to develop high performance multi-maker tests for chromosomal abnormalities. Although cell-free DNA testing is still too expensive to be considered for routine application in public health settings, it can be cost-effective when used in combination with existing multi-maker marker tests. The established screening methods can be readily applied in the first trimester to identify pregnancies at high risk of pre-eclampsia and offer prevention though aspirin treatment. Prenatal screening for fragile X syndrome might be adopted more widely if the test was to be framed as a form of maternal marker screening.

  17. LEOPARD-syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Risby, Kirsten; Bygum, Anette

    2009-01-01

    We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD sy...... syndrome. We discuss the clinical characteristics of LS, the need for follow-up and genetic counselling, and the molecular-genetic background as well as the relationship to the allelic disease Noonan syndrome. Udgivelsesdato: 2009-Jan-26......We describe a 12-year-old boy with a typical phenotype of the LEOPARD syndrome (LS). The diagnosis was confirmed in the boy and his mother, who both had a mutation in the PTPN11 gene at Thr468Met (c.1403C > T). Several other members of the maternal family are suspected also to have the LEOPARD...

  18. Ketonuria and HELLP syndrome.

    Science.gov (United States)

    Gubbala, Phanendra Kumar; Karoshi, Mahantesh; Zakaria, Faris

    2009-01-01

    We recently managed a patient with the HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelet count) where there was a delay in diagnosis due to gastroenteritis. This case also reiterates the varied or lack of symptomatology in patients developing HELLP and obscuring the initial diagnosis. Patients with HELLP syndrome have significant maternal morbidity and mortality, hence clinical vigilance and high suspicion play a key role in the diagnosis and subsequent management.

  19. Progress toward cell-directed therapy for phenylketonuria

    Science.gov (United States)

    Harding, CO

    2009-01-01

    Phenylketonuria (PKU) is one of the most common inborn errors of metabolism with an annual incidence of approximately 1:16,000 live births in North America. Contemporary therapy relies upon lifelong dietary protein restriction and supplementation with phenylalanine-free medical foods. This therapy is expensive and unpalatable; dietary compliance is difficult to maintain throughout life. Non-adherence to the diet is associated with learning disabilities, adult-onset neurodegenerative disease, and maternal PKU syndrome. The fervent dream of many individuals with PKU is a more permanent cure for this disease. This paper will review ongoing efforts to develop viable cell-directed therapies, in particular cell transplantation and gene therapy, for the treatment of PKU. PMID:18498375

  20. Goodbye, Mandatory Maternity Leaves

    Science.gov (United States)

    Nation's Schools, 1972

    1972-01-01

    In precedent-setting decrees, courts and federal and State authorities have branded compulsory maternity leaves either unconstitutional or illegal. School administrators are urged to prod boards of education to adopt more lenient maternity leave policies -- now. (Author)

  1. Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked?

    Science.gov (United States)

    Wiedemann, A; Leheup, B; Battaglia-Hsu, S-F; Jonveaux, P; Jeannesson, E; Feillet, F

    2013-01-01

    In our phenylketonuria (PKU) cohort of 120 patients, we uncovered a couple of cases of undiagnosed mild phenylketonuria (mPKU)/hyperphenylalaninemia (mHPA) in maternal parents of the PKU cohort. This finding prompted us to evaluate the risk of either mild phenylketonuria or mild hyperphenylalaninemia in the parent population whose children were diagnosed with hyperphenylalaninemia (HPA). Taking into account the phenylalanine hydroxylase (PAH) mutation carrier frequency and the PAH mild mutation rate, we estimated that the prevalence of the parental mPKU/mHPA varied widely, from 1/74 in Turkey to 1/708 in Lithuania. The benefits of the parental detection procedure described here are the prevention of further maternal PKU syndrome, the follow-up of the newly detected patients and the accuracy of the genetic counseling provided to these families. This very simple procedure should be incorporated into neonatal PKU management of the hospitals in countries where a routine systematic neonatal screening is operational. © 2013.

  2. Maternal anxiety, maternal sensitivity, and attachment

    NARCIS (Netherlands)

    Stevenson-Hinde, Joan; Chicot, Rebecca; Shouldice, Anne; Hinde, Camilla A.

    2016-01-01

    Previous research has related maternal anxiety to insecurity of attachment. Here we ask whether different aspects of maternal sensitivity mediate this link. From a community sample of intact families with 1-3 children, mothers with 4.5-year-olds were selected for low, medium, or high anxiety

  3. Maternal anxiety, maternal sensitivity, and attachment

    NARCIS (Netherlands)

    Stevenson-Hinde, J.; Chicot, R.; Schouldice, A.; Hinde, C.A.

    2013-01-01

    Previous research has related maternal anxiety to insecurity of attachment. Here we ask whether different aspects of maternal sensitivity mediate this link. From a community sample of intact families with 1-3 children, mothers with 4.5-year-olds were selected for low, medium, or high anxiety levels

  4. Feto portador de síndrome de turner e tetralogia de fallot associadas à elevação de alfafetoproteína materna Fetal turner syndrome and tetralogy of fallot associated with elevated maternal serum alpha-fetoprotein levels

    Directory of Open Access Journals (Sweden)

    Eduardo Vieira Neto

    1998-06-01

    Full Text Available A síndrome de Turner fetal e suas complicações, a hidropisia e o higroma cístico, podem produzir alteração dos marcadores bioquímicos de soro materno inicialmente utilizados no rastreamento de síndrome de Down e de defeitos de tubo neural (DTN. Os autores relatam o caso de uma gestante de 37 anos, que foi rastreada para síndrome de Down e DTN no início do 2º trimestre. Foi constatado aumento da alfafetoproteína de soro materno (MSAFP e o rastreamento foi considerado positivo para DTN. Foi realizado exame ultra-sonográfico tridimensional, que não demonstrou nenhuma anormalidade fetal ou placentária, caracterizando o caso como elevação idiopática de MSAFP. No 3º trimestre, a gravidez evoluiu com acentuada oligoidrâmnia e alteração do fluxo uteroplacentário, obrigando à instituição de terapia com corticosteróides e parto cesáreo na 34ª semana gestacional. O concepto do sexo feminino foi encaminhado à UTI neonatal, onde foram diagnosticadas tetralogia de Fallot e síndrome de Turner. Esse caso incentivou os autores a rever a literatura sobre marcadores bioquímicos de soro materno na síndrome de Turner e nas malformações cardíacas congênitas. Ao final, propõe-se um protocolo para elevação idiopática de MSAFP.Turner syndrome and its complications, hydrops and cystic hygroma, can produce alterations in maternal serum biochemical markers used in screening for Down's syndrome and neural tube defects (NTD. The authors report the case of a 37-year-old pregnant woman, screened for Down's syndrome and NTD in the second trimester of pregnancy. The maternal serum alpha-fetoprotein (MSAFP level was increased and the test was considered screen positive for NTD. A three-dimensional ultrasound investigation was performed, but no fetal or placental anomalies were found, indicating a case of unexplained increased msafp. In the third trimester severe oligohydramnios and disturbances in uteroplacental arterial circulation

  5. What Causes Prader-Willi Syndrome?

    Science.gov (United States)

    ... a fundamental role in regulating hunger and fullness. Maternal uniparental disomy (pronounced yoo-nuh-puh-REN-tl ... 2018). Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural ...

  6. Maternity Protection at Work.

    Science.gov (United States)

    World of Work, 1998

    1998-01-01

    Discusses the need for maternity benefits for working women. Suggests that although most countries provide paid maternity leave by law, there is a gap between that law and practice. Includes a chart depicting maternity protection (length of leave, cash benefits, who pays) around the world. (JOW)

  7. Influences of maternal overprotection.

    Science.gov (United States)

    Parker, G; Lipscombe, P

    1981-04-01

    While maternal overprotection appears associated with several neurotic and psychotic disorders, little is known about determinants of such a parental characteristic. Several hypotheses have been tested in a large nonclinical sample. Maternal and cultural factors seemed of greater relevance than characteristics in the child. Overprotective mothers gave evidence of marked maternal preoccupations before having children, of showing a capacity to be overprotective after the active stage of mothering, and of having personality characteristics of high anxiety, obsessionality and a need to control. Maternal overprotection appears associated with low, rather than with high maternal care. This has important primary prevention and treatment implications.

  8. Reconfiguring Maternity Care?

    DEFF Research Database (Denmark)

    Johannsen, Nis

    This dissertation constitutes a reflection on two initiatives seeking to reconfigure maternity care. One initiative sought to digitalise maternity records and included a pilot run of an electronic maternity record in a Danish county. The other consisted of a collaboration between a maternity ward...... at a hospital and a group of researchers which included me. Both initiatives involved numerous seemingly different interests that were held together and related to reconfiguring maternity care. None of the initiatives can unequivocally be labelled a success, as neither managed to change maternity care, at least...... experimental designs are constructed. The consequences and the politics of the proposed changes are engaged with in laboratory manner through collaborative development of the designs and through exposing them to members of field of maternity care...

  9. Maternal Mortality in Texas.

    Science.gov (United States)

    Baeva, Sonia; Archer, Natalie P; Ruggiero, Karen; Hall, Manda; Stagg, Julie; Interis, Evelyn Coronado; Vega, Rachelle; Delgado, Evelyn; Hellerstedt, John; Hankins, Gary; Hollier, Lisa M

    2017-05-01

    A commentary on maternal mortality in Texas is provided in response to a 2016 article in Obstetrics & Gynecology by MacDorman et al. While the Texas Department of State Health Services and the Texas Maternal Mortality and Morbidity Task Force agree that maternal mortality increased sharply from 2010 to 2011, the percentage change or the magnitude of the increase in the maternal mortality rate in Texas differs depending on the statistical methods used to compute and display it. Methodologic challenges in identifying maternal death are also discussed, as well as risk factors and causes of maternal death in Texas. Finally, several state efforts currently underway to address maternal mortality in Texas are described. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  10. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  11. Parent-of-origin effects in Turner Syndrome patients

    OpenAIRE

    Wang, Jada; Styers, Marshall; Sayres, Melissa Wilson

    2015-01-01

    Turner Syndrome patients have a single X chromosome, without a partner, X or Y. It has been suggested that the inheritance of the maternal X or paternal X may affect the severity of Turner Syndrome, as well as the incidence of mental disorders in Turner Syndrome individuals. Parental imprinting on the X chromosome may lead to different phenotypic variations in Turner Syndrome patients. In this project, we conduct an analysis of the current state of research on Turner Syndrome, and review the ...

  12. Severe acute maternal morbidity and maternal death audit - a rapid ...

    African Journals Online (AJOL)

    Severe acute maternal morbidity and maternal death audit - a rapid diagnostic tool for evaluating maternal care. L Cochet, R.C. Pattinson, A.P. Macdonald. Abstract. Objective. To analyse severe acute maternal morbidity (SAMM) and maternal mortality in the Pretoria region over a 2-year period (2000 - 2001). Setting.

  13. 78 FR 54255 - Single-Case Deviation From Competition Requirements: Maternal and Child Health (MCH) Bureau's...

    Science.gov (United States)

    2013-09-03

    ... Deviation From Competition Requirements: Maternal and Child Health (MCH) Bureau's Research Network on... practice over time (e.g., Preterm birth, Diabetes during pregnancy, Obesity, Nausea and vomiting of... disorders during pregnancy, Down syndrome); Studies that assess the maternal-child health workforce (e.g...

  14. Maternal western diet primes non-alcoholic fatty liver disease in adult mouse offspring

    NARCIS (Netherlands)

    Pruis, M. G. M.; Lendvai, A.; Bloks, V. W.; Zwier, M. V.; Baller, J. F. W.; de Bruin, A.; Groen, A. K.; Plosch, T.

    AimMetabolic programming via components of the maternal diet during gestation may play a role in the development of different aspects of the metabolic syndrome. Using a mouse model, we aimed to characterize the role of maternal western-type diet in the development of non-alcoholic fatty liver

  15. Beals Syndrome

    Science.gov (United States)

    ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

  16. Neonatal opioid withdrawal syndrome.

    Science.gov (United States)

    Sutter, Mary Beth; Leeman, Lawrence; Hsi, Andrew

    2014-06-01

    Neonatal opioid withdrawal syndrome is common due to the current opioid addiction epidemic. Infants born to women covertly abusing prescription opioids may not be identified as at risk until withdrawal signs present. Buprenorphine is a newer treatment for maternal opioid addiction and appears to result in a milder withdrawal syndrome than methadone. Initial treatment is with nonpharmacological measures including decreasing stimuli, however pharmacological treatment is commonly required. Opioid monotherapy is preferred, with phenobarbital or clonidine uncommonly needed as adjunctive therapy. Rooming-in and breastfeeding may decease the severity of withdrawal. Limited evidence is available regarding long-term effects of perinatal opioid exposure. Copyright © 2014 Elsevier Inc. All rights reserved.

  17. Maternal Employment: 1979.

    Science.gov (United States)

    Hoffman, Lois Wladis

    1979-01-01

    Maternal employment is a part of modern family life, a response to changes such as smaller families and more efficient household management. Not only does maternal employment meet parents' needs, but it is a pattern better suited for socializing the child for the adult role s/he will occupy. (Author/GC)

  18. Pregnancy and Marfan syndrome

    Science.gov (United States)

    Goland, Sorel

    2017-01-01

    Pregnancy in women with Marfan syndrome (MFS) presents challenges to the clinician and the patient due to the increased incidence of maternal complications and involvement of the fetus, and deserves special consideration. The leading cause of morbidity and mortality in MFS is aortic dissection. This article presents an extensive review of available clinical information and provides recommendations for the management of patients with MFS during pregnancy. PMID:29270376

  19. Maternal sensitivity: a concept analysis.

    Science.gov (United States)

    Shin, Hyunjeong; Park, Young-Joo; Ryu, Hosihn; Seomun, Gyeong-Ae

    2008-11-01

    The aim of this paper is to report a concept analysis of maternal sensitivity. Maternal sensitivity is a broad concept encompassing a variety of interrelated affective and behavioural caregiving attributes. It is used interchangeably with the terms maternal responsiveness or maternal competency, with no consistency of use. There is a need to clarify the concept of maternal sensitivity for research and practice. A search was performed on the CINAHL and Ovid MEDLINE databases using 'maternal sensitivity', 'maternal responsiveness' and 'sensitive mothering' as key words. The searches yielded 54 records for the years 1981-2007. Rodgers' method of evolutionary concept analysis was used to analyse the material. Four critical attributes of maternal sensitivity were identified: (a) dynamic process involving maternal abilities; (b) reciprocal give-and-take with the infant; (c) contingency on the infant's behaviour and (d) quality of maternal behaviours. Maternal identity and infant's needs and cues are antecedents for these attributes. The consequences are infant's comfort, mother-infant attachment and infant development. In addition, three positive affecting factors (social support, maternal-foetal attachment and high self-esteem) and three negative affecting factors (maternal depression, maternal stress and maternal anxiety) were identified. A clear understanding of the concept of maternal sensitivity could be useful for developing ways to enhance maternal sensitivity and to maximize the developmental potential of infants. Knowledge of the attributes of maternal sensitivity identified in this concept analysis may be helpful for constructing measuring items or dimensions.

  20. Neurological images in phenylketonuria (PKU

    Directory of Open Access Journals (Sweden)

    Juan Francisco Cabello

    2014-07-01

    Full Text Available Phenylketonuria is an inborn error of metabolism that causes structural abnormalities in the white matter of the brain. In untreated patients demyelization can be observed, and there is evidence of intramyelin edema even in some treated patients. Imaging studies especially magnetic resonance imaging are useful for the study of patients with phenylketonuria, but their benefit as monitoring tools is controversial.

  1. Congenital Malformations Associated with Maternal Diabetes

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2005-03-01

    Full Text Available Maternal diabetes has toxic effects on the development of the embryo and significantly increases the risk of congenital malformations in humans. The incidence of fetal structural defects caused by maternal pregestational diabetes is three- to fourfold higher than that caused by non-diabetic pregnancy. The congenital malformations associated with diabetic pregnancy arise before the seventh gestational week. Diabetic embryopathy can affect any developing organ system, including the central nervous system (CNS (anencephaly, spina bifida, microcephaly, and holoprosencephaly, skeletal system (caudal regression syndrome, sacral agenesis, and limb defects, renal system (renal agenesis, hydronephrosis, and ureteric abnormalities, cardiovascular system (transposition of the great vessels, ventricular septal defects, atrial septal defects, coarctation of the aorta, cardiomyopathy, and single umbilical artery, and gastrointestinal system (duodenal atresia, anorectal atresia, and small left colon syndrome. Pregnant women with fetuses with diabetic embryopathy may have chronic or unrecognized hyperglycemia and elevated levels of glycerated hemoglobin. This review emphasizes the necessity to consider hyperglycemia-induced teratogenesis during genetic counseling of parents with prenatally detected fetal malformations. Successful preconception counseling for women with diabetes mellitus and metabolic control will reduce birth defects and maternal morbidity.

  2. Reducing Maternal Mortality by Strengthening Community Maternal ...

    African Journals Online (AJOL)

    AJRH Managing Editor

    translated from Hausa to English language. Using a pre-determined coding framework, coding and thematic analyses were carried out on the qualitative data collected from the baseline. LGA. Community. Estimated. Community. Population. Community maternal support systems established. Community savings. Emergency.

  3. Cushing syndrome

    Science.gov (United States)

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... Cushing syndrome . Prednisone, dexamethasone, and prednisolone ...

  4. LEOPARD syndrome

    Science.gov (United States)

    Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

  5. Fanconi syndrome

    Science.gov (United States)

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  6. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  7. [Maternal death: unequal risks].

    Science.gov (United States)

    Defossez, A C; Fassin, D

    1989-01-01

    Nearly 99% of maternal deaths in the world each year occur in developing countries. New efforts have recently been undertaken to combat maternal mortality through research and action. The medical causes of such deaths are coming to be better understood, but the social mechanisms remain poorly grasped. Maternal mortality rates in developing countries are difficult to interpret because they tend to exclude all deaths not occurring in health care facilities. The countries of Europe and North America have an average maternal mortality rate of 30/100,000 live births, representing about 6000 deaths each year. The developing countries of Asia, Africa, and Latin America have rates of 270-640/100,000, representing some 492,000 deaths annually. For a true comparison of the risks of maternal mortality in different countries, the risk itself and the average number of children per woman must both be considered. A Nigerian woman has 375 times greater risk of maternal death than a Swedish woman, but since she has about 4 times more children, her lifetime risk of maternal death is over 1500 times greater than that of the Swedish woman. The principal medical causes of maternal death are known: hemorrhages due to placenta previa or retroplacental hematoma, mechanical dystocias responsible for uterine rupture, toxemia with eclampsia, septicemia, and malaria. The exact weight of abortion in maternal mortality is not known but is probably large. The possible measures for improving such rates are of 3 types: control of fertility to avoid early, late, or closely spaced pregnancies; effective medical surveillance of the pregnancy to reduce the risk of malaria, toxemia, and hemorrhage, and delivery in an obstetrical facility, especially for high-risk pregnancies. Differential access to high quality health care explains much of the difference between mortality rates in urban and rural, wealthy and impoverished areas of the same country. The social determinants of high maternal mortality

  8. Epigenoty-pephenotype correlations in Silver-Russell syndrome

    NARCIS (Netherlands)

    Wakeling, E. L.; Abu Amero, S.; Alders, M.; Bliek, J.; Forsythe, E.; Kumar, S.; Lim, D. H.; MacDonald, F.; Mackay, D. J.; Maher, E. R.; Moore, G. E.; Poole, R. L.; Price, S. M.; Tangeraas, T.; Turner, C. L. S.; Van Haelst, M. M.; Willoughby, C.; Temple, I. K.; Cobben, J. M.

    2010-01-01

    Background Silver Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry. Maternal uniparental disomy (mUPD) of chromosome 7 and hypomethylation of the imprinting control region (ICR) 1 on chromosome

  9. Dietary Proteins, Developmental Programming, and Potential Implication in Maternal Obesity

    Directory of Open Access Journals (Sweden)

    Alireza Jahan-mihan

    2017-08-01

    Full Text Available Background: Proteins are known mainly based on their metabolic and nutritional functions including protein synthesis and a source of energy. In spite of various physiological properties attributed to proteins, their functions have neither been addressed by assessing quality of proteins nor by nutrition and dietetic practices. Methods: Studies were included if they were randomized animal studies, clinical trials and systematic reviews/meta-analysis published in English language. Results: The effect of maternal diet in general and dietary proteins in particular during development on health of offspring has been well-studied. Protein content as well as source of protein in the diet consumed during pregnancy and lactation influenced the risk of metabolic syndrome characteristics in offspring. Both high and low protein diets showed detrimental effects on health of offspring. Moreover, comparison of maternal casein-based diet with soy protein-based diet showed more favorable effect on body weight, body composition, blood pressure, and glucose metabolism in offspring. However, the role of maternal dietary proteins in developing the risk of metabolic syndrome characteristics in offspring in gestational obesity is still unclear and needs further study. Conclusions: Dietary proteins are determining factors in developmental programming. Both quantity and source of proteins in maternal diet influenced the development of metabolic syndrome characteristics in offspring. However, whether they have the same function in presence of gestational obesity is still unclear and needs further study.

  10. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes...

  11. Rural maternity care.

    Science.gov (United States)

    Miller, Katherine J; Couchie, Carol; Ehman, William; Graves, Lisa; Grzybowski, Stefan; Medves, Jennifer

    2012-10-01

    To provide an overview of current information on issues in maternity care relevant to rural populations. Medline was searched for articles published in English from 1995 to 2012 about rural maternity care. Relevant publications and position papers from appropriate organizations were also reviewed. This information will help obstetrical care providers in rural areas to continue providing quality care for women in their communities. Recommendations 1. Women who reside in rural and remote communities in Canada should receive high-quality maternity care as close to home as possible. 2. The provision of rural maternity care must be collaborative, woman- and family-centred, culturally sensitive, and respectful. 3. Rural maternity care services should be supported through active policies aligned with these recommendations. 4. While local access to surgical and anaesthetic services is desirable, there is evidence that good outcomes can be sustained within an integrated perinatal care system without local access to operative delivery. There is evidence that the outcomes are better when women do not have to travel far from their communities. Access to an integrated perinatal care system should be provided for all women. 5. The social and emotional needs of rural women must be considered in service planning. Women who are required to leave their communities to give birth should be supported both financially and emotionally. 6. Innovative interprofessional models should be implemented as part of the solution for high-quality, collaborative, and integrated care for rural and remote women. 7. Registered nurses are essential to the provision of high-quality rural maternity care throughout pregnancy, birth, and the postpartum period. Maternity nursing skills should be recognized as a fundamental part of generalist rural nursing skills. 8. Remuneration for maternity care providers should reflect the unique challenges and increased professional responsibility faced by providers in

  12. Management strategy in pregnancies with elevated second-trimester maternal serum alpha-fetoprotein based on a second assay.

    Science.gov (United States)

    Spaggiari, Emmanuel; Ruas, Marie; Dreux, Sophie; Valat, Anne-Sylvie; Czerkiewicz, Isabelle; Guimiot, Fabien; Schmitz, Thomas; Delezoide, Anne-Lise; Muller, Françoise

    2013-04-01

    To assess maternal-fetal outcomes in pregnancies associated with persistently elevated second-trimester maternal serum alpha-fetoprotein. A retrospective cohort study in 658 patients with maternal serum alpha-fetoprotein ≥2.5 multiple of median, performed at routine Down syndrome screening. Maternal serum alpha-fetoprotein was assayed a second time in 341 of them. Outcomes were recorded in all cases. The group with unexplained maternal serum alpha-fetoprotein persistently ≥2.5 multiple of median was associated with more pregnancy complications 37 of 92 (40.2%) as fetal death, preeclampsia, intrauterine growth restriction, and congenital nephrotic syndrome, compared with the group with maternal serum alpha-fetoprotein that returned to a normal level 37 of 226 (16.4%) (P alpha-fetoprotein returns to a normal level on a second assay, the risk of adverse outcome significantly decreases, but these pregnancies are still at risk of complications and therefore need close surveillance. Repeat maternal serum alpha-fetoprotein assay allows identification of patients who should be offered amniocentesis to evaluate the risk of nephrotic syndrome and epidermolysis bullosa. Alpha-fetoprotein should be monitored in pregnancies associated with unexplained high maternal serum alpha-fetoprotein. A management strategy based on ultrasound examination, second maternal serum alpha-fetoprotein assay and amniocentesis is proposed to improve prenatal counseling and management of such pregnancies. However, a prospective study remains necessary to evaluate it. Copyright © 2013 Mosby, Inc. All rights reserved.

  13. Maternal anxiety versus depressive disorders: specific relations to infants' crying, feeding and sleeping problems.

    Science.gov (United States)

    Petzoldt, J; Wittchen, H-U; Einsle, F; Martini, J

    2016-03-01

    Maternal depression has been associated with excessive infant crying, feeding and sleeping problems, but the specificity of maternal depression, as compared with maternal anxiety remains unclear and manifest disorders prior to pregnancy have been widely neglected. In this prospective longitudinal study, the specific associations of maternal anxiety and depressive disorders prior to, during and after pregnancy and infants' crying, feeding and sleeping problems were investigated in the context of maternal parity. In the Maternal Anxiety in Relation to Infant Development (MARI) Study, n = 306 primiparous and multiparous women were repeatedly interviewed from early pregnancy until 16 months post partum with the Composite International Diagnostic Interview for Women (CIDI-V) to assess DSM-IV anxiety and depressive disorders. Information on excessive infant crying, feeding and sleeping problems was obtained from n = 286 mothers during postpartum period via questionnaire and interview (Baby-DIPS). Findings from this study revealed syndrome-specific risk constellations for maternal anxiety and depressive disorders as early as prior to pregnancy: Excessive infant crying (10.1%) was specifically associated with maternal anxiety disorders, especially in infants of younger and lower educated first-time mothers. Feeding problems (36.4%) were predicted by maternal anxiety (and comorbid depressive) disorders in primiparous mothers and infants with lower birth weight. Infant sleeping problems (12.2%) were related to maternal depressive (and comorbid anxiety) disorders irrespective of maternal parity. Primiparous mothers with anxiety disorders may be more prone to anxious misinterpretations of crying and feeding situations leading to an escalation of mother-infant interactions. The relation between maternal depressive and infant sleeping problems may be better explained by a transmission of unsettled maternal sleep to the fetus during pregnancy or a lack of daily

  14. Child Health, Maternal Marital and Socioeconomic Factors, and Maternal Health

    OpenAIRE

    Garbarski, Dana; Witt, Whitney P.

    2012-01-01

    While maternal socioeconomic status and health predict in part children’s future health and socioeconomic prospects, it is possible that the intergenerational association flows in the other direction such that child health affects maternal outcomes. Previous research demonstrates that poor child health increases the risk of adverse maternal physical and mental health outcomes. We hypothesize that poor child health may also increase the risk of poor maternal health outcomes through an interact...

  15. Maternal factors predicting cognitive and behavioral characteristics of children with fetal alcohol spectrum disorders.

    Science.gov (United States)

    May, Philip A; Tabachnick, Barbara G; Gossage, J Phillip; Kalberg, Wendy O; Marais, Anna-Susan; Robinson, Luther K; Manning, Melanie A; Blankenship, Jason; Buckley, David; Hoyme, H Eugene; Adnams, Colleen M

    2013-06-01

    To provide an analysis of multiple predictors of cognitive and behavioral traits for children with fetal alcohol spectrum disorders (FASDs). Multivariate correlation techniques were used with maternal and child data from epidemiologic studies in a community in South Africa. Data on 561 first-grade children with fetal alcohol syndrome (FAS), partial FAS (PFAS), and not FASD and their mothers were analyzed by grouping 19 maternal variables into categories (physical, demographic, childbearing, and drinking) and used in structural equation models (SEMs) to assess correlates of child intelligence (verbal and nonverbal) and behavior. A first SEM using only 7 maternal alcohol use variables to predict cognitive/behavioral traits was statistically significant (B = 3.10, p < .05) but explained only 17.3% of the variance. The second model incorporated multiple maternal variables and was statistically significant explaining 55.3% of the variance. Significantly correlated with low intelligence and problem behavior were demographic (B = 3.83, p < .05) (low maternal education, low socioeconomic status [SES], and rural residence) and maternal physical characteristics (B = 2.70, p < .05) (short stature, small head circumference, and low weight). Childbearing history and alcohol use composites were not statistically significant in the final complex model and were overpowered by SES and maternal physical traits. Although other analytic techniques have amply demonstrated the negative effects of maternal drinking on intelligence and behavior, this highly controlled analysis of multiple maternal influences reveals that maternal demographics and physical traits make a significant enabling or disabling contribution to child functioning in FASD.

  16. Maternal Mortality in a Nigerian Maternity Hospital | Olopade ...

    African Journals Online (AJOL)

    Despite recent focus on maternal mortality in Nigeria, its rates remain unacceptably high in Nigeria. A retrospective case-control study was carried out at Adeoyo Maternity Hospital, Ibadan between January 2003 and December 2004. This was to determine the maternal mortality ratio in a secondary health facility, to identify ...

  17. The effects of maternal haemoglobin as an indicator of maternal ...

    African Journals Online (AJOL)

    Background: Maternal measles antibodies (MMA) are actively transferred through the placenta from mother to foetus. A relationship could exist between MMA of mother-infant pairs and maternal nutritional indicator (haemoglobin). Objectives: This study reviewed the effects of maternal haemoglobin (Hb) on MMA of ...

  18. Maternal health Indicators Signal Optimism

    African Journals Online (AJOL)

    user

    Maternal health Indicators Signal Optimism. Abraham Haileamlak, MD, Professor of Pediatrics and Child Health. Maternal health is a major health priority for international agencies and the Ethiopian. Government. Many low income countries including. Ethiopia, made substantial improvements in maternal health achieving ...

  19. Maternal Sexuality and Breastfeeding

    Science.gov (United States)

    Bartlett, Alison

    2005-01-01

    In this paper I consider the ways in which lactation has been discussed as a form of maternal sexuality, and the implications this carries for our understanding of breastfeeding practices and sexuality. Drawing on knowledge constructed in the western world during the last half of the twentieth century, the paper identifies a shift between the…

  20. Maternity Leave in Taiwan

    Science.gov (United States)

    Feng, Joyce Yen; Han, Wen-Jui

    2010-01-01

    Using the first nationally representative birth cohort study in Taiwan, this paper examines the role that maternity leave policy in Taiwan plays in the timing of mothers returning to work after giving birth, as well as the extent to which this timing is linked to the amount of time mothers spend with their children and their use of breast milk…

  1. Maternity Leave Policies

    Science.gov (United States)

    Strang, Lucy; Broeks, Miriam

    2017-01-01

    Abstract Over recent years many European Union countries have made changes to the design of the maternity leave provision. These policy developments reflect calls for greater gender equality in the workforce and more equal share of childcare responsibilities. However, while research shows that long period of leave can have negative effects on women's labour market attachment and career advancements, early return to work can be seen as a factor preventing exclusive breastfeeding, and therefore, potentially having negative health impacts for babies. Indeed, the World Health Organisation recommends exclusive breastfeeding up to 6 months of age to provide babies with the nutrition for healthy growth and brain development, protection from life-threatening ailments, obesity and non-communicable diseases such as asthma and diabetes. Therefore, labour market demands on women may be at odds with the health benefits for children gained by longer periods of maternity leave. The aim of this article is to examine the relationship between leave provision and health benefits for children. We examine maternity and parental leave provision across European countries and its potential impact on the breastfeeding of very young babies (up to 6-months of age). We also consider economic factors of potential extension of maternity leave provision to 6 months, such as costs to businesses, effects on the female labour market attachment, and wider consequences (benefits and costs) for individuals, families, employers and the wider society. PMID:28983432

  2. Maternal correlates of maternal child feeding practices: a systematic review.

    Science.gov (United States)

    McPhie, Skye; Skouteris, Helen; Daniels, Lynne; Jansen, Elena

    2014-01-01

    Establishing healthy eating habits early in life is one important strategy to combat childhood obesity. Given that early maternal child feeding practices have been linked to child food intake and weight, identifying the maternal correlates of maternal child feeding practices is important in order to understand the determinants of childhood obesity; this was the overall aim of the current review. Academic databases were searched for studies examining the relationship between maternal child feeding practices and parenting, personal characteristics and psychopathology of mothers with preschoolers. Papers were limited to those published in English, between January 2000 and June 2012. Only studies with mothers of normally developing children between the ages of 2 and 6 years were included. There were no restrictions regarding the inclusion of maternal nationality or socioeconomic status (SES). Seventeen eligible studies were sourced. Information on the aim, sample, measures and findings of these was summarised into tables. The findings of this review support a relationship between maternal controlling parenting, general and eating psychopathology, and SES and maternal child feeding practices. The main methodological issues of the studies reviewed included inconsistency in measures of maternal variables across studies and cross-sectional designs. We conclude that the maternal correlates associated with maternal child feeding practices are complex, and the pathways by which maternal correlates impact these feeding practices require further investigation. © 2012 John Wiley & Sons Ltd.

  3. Marfan Syndrome

    Science.gov (United States)

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  4. Aarskog syndrome

    Science.gov (United States)

    Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

  5. Williams syndrome

    Science.gov (United States)

    Williams-Beuren syndrome ... Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. ... history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder ...

  6. Cushing's Syndrome

    OpenAIRE

    宗, 友厚; 伊藤, 勇; 諏訪, 哲也; 武田, 純; MUNE, Tomoatsu

    2003-01-01

    Sixteen cases of verified Cushing's syndrome, and twelve cases of probable Cushing's syndrome were reviewed and data on them were compared with various reports on Cushing's syndrome in the literature.

  7. Tourette syndrome

    Science.gov (United States)

    Gilles de la Tourette syndrome; Tic disorders - Tourette syndrome ... Tourette syndrome is named for Georges Gilles de la Tourette, who first described this disorder in 1885. The disorder is likely passed down through families. ...

  8. Molecular mechanisms of maternal vascular dysfunction in preeclampsia.

    Science.gov (United States)

    Goulopoulou, Styliani; Davidge, Sandra T

    2015-02-01

    In preeclampsia, as a heterogeneous syndrome, multiple pathways have been proposed for both the causal as well as the perpetuating factors leading to maternal vascular dysfunction. Postulated mechanisms include imbalance in the bioavailability and activity of endothelium-derived contracting and relaxing factors and oxidative stress. Studies have shown that placenta-derived factors [antiangiogenic factors, microparticles (MPs), cell-free nucleic acids] are released into the maternal circulation and act on the vascular wall to modify the secretory capacity of endothelial cells and alter the responsiveness of vascular smooth muscle cells to constricting and relaxing stimuli. These molecules signal their deleterious effects on the maternal vascular wall via pathways that provide the molecular basis for novel and effective therapeutic interventions. Copyright © 2014 Elsevier Ltd. All rights reserved.

  9. [Maternal deaths due to infectious cause, results from the French confidential enquiry into maternal deaths, 2010-2012].

    Science.gov (United States)

    Rigouzzo, A; Tessier, V; Zieleskiewicz, L

    2017-12-01

    Over the period 2010-2012, maternal mortality from infectious causes accounted for 5% of maternal deaths by direct causes and 16% of maternal deaths by indirect causes. Among the 22 deaths caused by infection occurred during this period, 6 deaths were attributed to direct causes from genital tract origin, confirming thus the decrease in direct maternal deaths by infection during the last ten years. On the contrary, indirect maternal deaths by infection, from extragenital origin, doubled during the same period, with 16 deaths in the last triennium, dominated by winter respiratory infections, particularly influenza: the 2009-2010 influenza A (H1N1) virus pandemic was the leading cause of indirect maternal mortality by infection during the studied period. The main infectious agents involved in maternal deaths from direct causes were Streptococcus A, Escherichia Coli and Clostridium perfringens: these bacterias were responsible for toxic shock syndrome, severe sepsis, secondary in some cases to cellulitis or necrotizing fasciitis. Of the 6 deaths due to direct infection, 4 were considered avoidable because of inadequate management: delayed or missed diagnosis, delayed or inadequate initiation of a specific medical and/or surgical treatment. Of the 16 indirect maternal deaths due to infection causes, the most often involved infectious agents were influenza A (H1N1) virus and Streptococcus pneumonia with induced purpura fulminans: the absence of influenza vaccination during pregnancy, delayed diagnosis and emergency initiation of a specific treatment, were the main contributory factors to these deaths and their avoidability in 70% of the cases analyzed. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  10. Hepatorenal syndrome

    Science.gov (United States)

    ... 2016:chap 153. Nevah MI, Fallon MB. Hepatic encephalopathy, hepatorenal syndrome, hepatopulmonary syndrome, and other systemic complications of liver disease. In: Feldman M, Friedman LS, Brandt LJ, ...

  11. Programming social behavior by the maternal fragile X protein.

    Science.gov (United States)

    Zupan, B; Sharma, A; Frazier, A; Klein, S; Toth, M

    2016-07-01

    The developing fetus and neonate are highly sensitive to maternal environment. Besides the well-documented effects of maternal stress, nutrition and infections, maternal mutations, by altering the fetal, perinatal and/or early postnatal environment, can impact the behavior of genetically normal offspring. Mutation/premutation in the X-linked FMR1 (encoding the translational regulator FMRP) in females, although primarily responsible for causing fragile X syndrome (FXS) in their children, may also elicit such maternal effects. We showed that a deficit in maternal FMRP in mice results in hyperactivity in the genetically normal offspring. To test if maternal FMRP has a broader intergenerational effect, we measured social behavior, a core dimension of neurodevelopmental disorders, in offspring of FMRP-deficient dams. We found that male offspring of Fmr1(+/-) mothers, independent of their own Fmr1 genotype, exhibit increased approach and reduced avoidance toward conspecific strangers, reminiscent of 'indiscriminate friendliness' or the lack of stranger anxiety, diagnosed in neglected children and in patients with Asperger's and Williams syndrome. Furthermore, social interaction failed to activate mesolimbic/amygdala regions, encoding social aversion, in these mice, providing a neurobiological basis for the behavioral abnormality. This work identifies a novel role for FMRP that extends its function beyond the well-established genetic function into intergenerational non-genetic inheritance/programming of social behavior and the corresponding neuronal circuit. As FXS premutation and some psychiatric conditions that can be associated with reduced FMRP expression are more prevalent in mothers than full FMR1 mutation, our findings potentially broaden the significance of FMRP-dependent programming of social behavior beyond the FXS population. © 2016 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

  12. The maternal intrauterine environment as a generator of children at risk of metabolic syndrome: a review O ambiente intrauterino como fator de risco para a síndrome metabólica: uma revisão

    Directory of Open Access Journals (Sweden)

    Suzana Maria Ramos Costa

    2010-09-01

    Full Text Available Nowadays, scientists are paying special attention to the increasing prevalence of obesity and associated co-morbidities, especially metabolic syndrome. This is due to observation of the spread of this syndrome from one generation to another and the growing number of obese pregnant women, which seems to exacerbate this situation. It is not yet well established whether the pathophysiological process underlying metabolic syndrome, namely insulin resistance, is due to changes in the receptor or in the cascade of intracellular processes. This narrative review aims to report on physiological and pathological changes occurring in pregnancy and the presence of Insulin receptor, Insulin Growth Factor-I receptor and the hybrid receptor, focusing on the presence of hyperinsulinemia in the growth and development of fetuses susceptible to metabolic syndrome.O mundo científico está dando atenção especial ao crescimento da prevalência da obesidade e de suas co-morbidades, de modo particular da síndrome metabólica. Esse fato deve-se à observação da propagação dessa síndrome através de gerações e ao crescimento do número de gestantes obesas que parece agravar esta situação. Ainda não está bem estabelecido se o processo fisiopatológico subjacente à síndrome metabólica, a resistência à insulina, é por alteração no seu receptor ou na cascata de processos intracelulares. Esta revisão visa relacionar as alterações fisiológicas e patológicas da gestação e a presença dos receptores de insulina, Insulin Growth Factor-I e seus híbridos, focando na presença da hiperinsulinemia no crescimento e desenvolvimento do feto, a predisposição à síndrome metabólica.

  13. Maternal nutrition and birth outcomes.

    Science.gov (United States)

    Abu-Saad, Kathleen; Fraser, Drora

    2010-01-01

    In this review, the authors summarize current knowledge on maternal nutritional requirements during pregnancy, with a focus on the nutrients that have been most commonly investigated in association with birth outcomes. Data sourcing and extraction included searches of the primary resources establishing maternal nutrient requirements during pregnancy (e.g., Dietary Reference Intakes), and searches of Medline for "maternal nutrition"/[specific nutrient of interest] and "birth/pregnancy outcomes," focusing mainly on the less extensively reviewed evidence from observational studies of maternal dietary intake and birth outcomes. The authors used a conceptual framework which took both primary and secondary factors (e.g., baseline maternal nutritional status, socioeconomic status of the study populations, timing and methods of assessing maternal nutritional variables) into account when interpreting study findings. The authors conclude that maternal nutrition is a modifiable risk factor of public health importance that can be integrated into efforts to prevent adverse birth outcomes, particularly among economically developing/low-income populations.

  14. Post-Traumatic Stress Disorder and severe maternal morbidity: is there an association?

    Science.gov (United States)

    Angelini, Carina R; Pacagnella, Rodolfo C; Parpinelli, Mary A; Silveira, Carla; Andreucci, Carla B; Ferreira, Elton C; Santos, Juliana P; Zanardi, Dulce M; Souza, Renato T; Cecatti, Jose G

    2018-01-01

    To evaluate the occurrence of Post-Traumatic Stress Disorder among women experiencing a severe maternal morbidity event and associated factors in comparison with those without maternal morbidity. In a retrospective cohort study, 803 women with or without severe maternal morbidity were evaluated at 6 months to 5 years postpartum for the presence of Post-Traumatic Stress Disorder. Interviews were conducted by telephone and electronic data was stored. Data analysis was carried out by using χ2, Fisher's Exact test, and logistic regression analysis. There was no significant change in the prevalence of Post-Traumatic Stress Disorder related to a previous severe maternal morbidity experience. There were also no differences in diagnostic criteria for severe maternal morbidity (hypertensive syndromes, hemorrhage, surgical intervention or intensive care unit admission required, among other management criteria). Low parity (2.5-fold risk) and increasing age were factors associated with Post-Traumatic Stress Disorder. A severe maternal morbidity episode is not associated with Post-Traumatic Stress Disorder symptoms within five years of the severe maternal morbidity event and birth. However, a more advanced maternal age and primiparity increased the risk of Post-Traumatic Stress Disorder. This does not imply that women who had experienced a severe maternal morbidity event did not suffer or need differentiated care.

  15. BDNF expression in the hippocampus of maternally separated rats: does Bifidobacterium breve 6330 alter BDNF levels?

    Science.gov (United States)

    O'Sullivan, E; Barrett, E; Grenham, S; Fitzgerald, P; Stanton, C; Ross, R P; Quigley, E M M; Cryan, J F; Dinan, T G

    2011-09-01

    Brain-derived neurotrophic factor (BDNF) is of interest because of its putative role in stress and psychiatric disorders. Maternal separation is used as an animal model of early-life stress and of irritable bowel syndrome (IBS). Animals exposed to the paradigm show altered gut function together with heightened levels of arousal and corticosterone. Some probiotic organisms have been shown to be of benefit in IBS and influence the brain-gut axis. Our objective was to investigate the effects of maternal separation on BDNF under basal conditions and in response to the probiotic Bifidobacterium breve 6330. The study implemented the maternal separation model which we have previously described. Polymerase chain reaction and in situ hybridisation were performed to measure the effect of maternal separation on both BDNF total variants and BDNF splice variant (exon) IV in the hippocampus. Maternally separated and non-separated rats were treated with B. breve 6330, to investigate the effect of this probiotic on BDNF total variant and BDNF exon IV expression. Maternal separation increased BDNF total variants (Pbreve 6330 increased BDNF total variants (Pbreve 6330 did not alter BDNF levels in the maternally separated rats. Maternal separation caused a marked increase in BDNF in the hippocampus. While B. breve 6330 influenced BDNF in normal animals, it had no significant effect on BDNF in those which were maternally separated. We have demonstrated that an orally administered probiotic can influence hippocampal BDNF.

  16. Evaluation and interpretation of maternal toxicity in Segment II studies: Issues, some answers, and data needs

    International Nuclear Information System (INIS)

    Rogers, John M.; Chernoff, Neil; Keen, Carl L.; Daston, George P.

    2005-01-01

    Biologically rational regulatory policies with regards to developmental toxicity are often based on the extrapolation of standard laboratory rodent bioassay results to the human population. Significantly contributing to the difficulty of this task is the possibility that general toxic effects on the maternal organism may affect the developing conceptus. This review examines maternal factors which may bear directly or indirectly upon developmental outcome, with emphasis on those of greatest relevance to the hazard assessment process. Standard teratology testing protocols call for top dosage levels that induce overt maternal toxicity, and the developmental effects of this toxicity (both alone, and with concurrent embryo/fetal insult) continue to present regulators with considerable interpretive difficulties. In response to these problems, there have been both research and literature review efforts dealing with the relationship of maternal and developmental toxicity. Maternally mediated developmental toxicity occurs with a number of agents, and toxicant-induced alterations in maternal physiology may affect the conceptus at dosages not causing overt maternal toxicity. Relevant studies are reviewed here, and suggestions for avenues of future research are offered including the identification of any syndromes of developmental effects occurring at maternally toxic levels irrespective of the causative agent, and experimental approaches for the characterization of maternal toxicity

  17. Good maternal nutrition

    DEFF Research Database (Denmark)

    Breda, Joao; Robertson, Aileen

    This publication has three parts: •a summary of the results of a systematic review of the most recent evidence on maternal nutrition, the prevention of obesity and noncommunicable diseases; •a review of existing recommendations for nutrition, physical activity and weight gain during pregnancy...... in European countries; and •lists of possible opportunities for action in European countries. The overview and exploration of the national recommendations for nutrition, physical activity and weight gain during pregnancy are based on the results of a survey in which 51 of the 53 Member States in the WHO....... These are opportunities to promote nutrition and health throughout the life-course, ensure optimal diet-related fetal development and reduce the impact of morbidity and risk factors for noncommunicable diseases by improving maternal nutrition....

  18. AN AUDIT OF MATERNAL DEATHS

    Directory of Open Access Journals (Sweden)

    Basavana Gowda

    2015-03-01

    Full Text Available OBJECTIVES: A study of maternal death conducted to evaluate various factors responsible for maternal deaths. To identify complications in pregnancy, a childbirth which result in maternal death, and to identify opportunities for preventive intervention and understand the events leading to death; so that improving maternal health and reducing maternal mortality rate significantly. To analyze the causes and epidemiological amounts maternal mortality e.g. age parity, socioeconomic status and literacy. In order to reduce maternal mortality and to implement safe motherhood program and complications of pregnancy and to find out safe motherhood program. METHODS: The data collected was a retrograde by a proforma containing particulars of the diseased, detailed history and relatives were interviewed for additional information. The data collected was analysed. RESULTS: Maternal mortality rate in our own institution is 200/ 100,000 live births. Among 30 maternal deaths, 56% deaths (17 were among low socio - economic status, groups 60% deaths among unbooked 53.5% deaths more along illiterates evidenced by direct and indirect deaths about 25% of deaths were preventable. CONCLUSION: Maternal death is a great tragedy in the family life. It is crusade to know not just the medical cause of the death but the circumstances what makes these continued tragic death even more unacceptable is that deaths are largely preventable

  19. Angelman syndrome in an inbred family

    NARCIS (Netherlands)

    J. Beuten (Joke); R.C.M. Hennekam (Raoul); B. van Roy (Bernadette); K. Mangelschots (Kathelijne); J.S. Sutcliffe (James); D.J.J. Halley (Dicky); R.C.M. Hennekam (Raoul); L. Beaudet (Lucille); P.J. Willems (Patrick)

    1996-01-01

    textabstractAngelman syndrome (AS) is characterized by severe mental retardation, absent speech, puppet-like movements, inappropriate laughter, epilepsy, and abnormal electroencephalogram. The majority of AS patients (≃ 65%) have a maternal deficiency within chromosomal region 15q11-q13, caused by

  20. Angelman syndrome in an inbred family

    NARCIS (Netherlands)

    Beuten, J.; Hennekam, R. C.; van Roy, B.; Mangelschots, K.; Sutcliffe, J. S.; Halley, D. J.; Hennekam, F. A.; Beaudet, A. L.; Willems, P. J.

    1996-01-01

    Angelman syndrome (AS) is characterized by severe mental retardation, absent speech, puppet-like movements, inappropriate laughter, epilepsy, and abnormal electroencephalogram. The majority of AS patients (approximately 65%) have a maternal deficiency within chromosomal region 15q11-q13, caused by

  1. Maternally acquired runt disease.

    Science.gov (United States)

    Beer, A E; Billingham, R E

    1973-01-19

    Without altering the structural integrity of the placenta by irradiation or drugs, we have shown that it is possible to immunize females both adoptively and actively against the paternally inherited transplantation antigens of their fetuses. Such immunization causes a high incidence of runt disease among the litters. Although the putative chimeric status of the affected offspring has yet to be confirmed, the results of our experiments support the thesis that runt disease is caused by the activities of "unwanted" immigrant lymphocytes from the maternal circulation. Our results suggest that immunologically activated cells are more likely to cross the placenta than normal cells and that this greater mobility may not be related to the immunologic specificity of the activated cells. Two factors may have contributed to the apparent failure of numerous previous attempts to demonstrate the capacity of transplantation immunity to affect the well-being of a fetus or, more correctly, its placenta, in the way that might be expected of a homograft. (i) Investigators were preoccupied with obtaining a classic type of rejection, in utero, analogous to the rejection of an orthotopic skin homograft. The birth of consistently healthy-looking litters, interpreted as a failure of the experiment, convinced the investigators of the efficacy of nature's solution of the homograft problem and there was no reason for them to suspect its possible limitations. Observation of the litters for several weeks might have uncovered the phenomenon of maternally induced runt disease. (ii) Most investigators resorted to hyperimmunization of the mothers. This would have facilitated the synthesis of protective isoantibodies capable of interfering with the expression of the potentially harmful cellular immune response (6). Ever since the abnormalities of runt disease were first described they have repeatedly been compared to those observed in patients with certain lymphomas (17). Various theories have been

  2. [Precautionary maternity leave in Tirol].

    Science.gov (United States)

    Ludescher, K; Baumgartner, E; Roner, A; Brezinka, C

    1998-01-01

    Under Austrian law, precautionary maternity leave is a decree issued by the district public health physician. It forbids a pregnant woman to work and mandates immediate maternity leave. Regular maternity leave for all women employed in all jobs begins at 32 weeks of gestation. Women who work in workplaces deemed dangerous and women with a history of obstetric problems such as premature or growth-retarded babies from previous pregnancies are regularly 'sent' into precautionary maternity leave. The public health physicians of Tirol's nine administrative districts were interviewed and supplied data on precautionary maternity leave from their districts. In 100 women who attended the clinic for pregnancies at risk of the Obstetrics/Gynecology Department of Innsbruck University Hospital and who had already obtained precautionary maternity leave, the medical/administrative procedure was studied in each case and correlated with pregnancy outcome. The town district of Innsbruck and the district that comprises the suburbs of the provincial capital had the highest rates of precautionary maternity leave. The town district of Innsbruck had a rate of 24.3% of all pregnant women (employed and not employed) in precautionary maternity leave in 1997, whereas the whole province of Tirol had 13.4%. More than 80% of decrees for precautionary maternity leave are issued by district public health physicians on the basis of written recommendations from gynecologists. One third of women who are sent into precautionary maternity leave are issued the decree prior to 12 weeks of gestation - mostly cases of multiple pregnancies and women with previous miscarriages. The present system of precautionary maternity leave appears to work in the sense that most working pregnant women with risk factors are correctly identified - with most errors on the side of caution. As the system also helps employers - the employee's pay is paid from the federal family support fund and state insurance once she is in

  3. [The importance of maternal microbiome in pregnancy].

    Science.gov (United States)

    Záhumenský, J; Hederlingová, J; Pšenková, P

    2017-01-01

    To bring the most actual published findings of the influence of maternal microbiome on the development of pregnancy and possibilities of its adjusting. Review. 2nd Department of Gyneacology and Obstetrics of the Faculty of Medicine and the University Hospital, Bratislava. Review of the literature. The appearance of microbes on various body surface areas determines the overall health status of the individual in significant manner. The change in composition of microbioma in pregnant woman is well known. It was believed that the placenta and the body of the newborn is sterile environment. Modern diagnostic methods proved the presence of microorganisms inside the fetoplacentar unit without the signs of inflammation. Mutual interaction between the immune system of the mother, microbioma and immune system of the newborn can decrease the risk of serious obstetrical syndromes as well as define the lifelong health status of the newborn. The risk can be decreased by the administration of probiotics during the pregnancy.

  4. Maternal cardiac metabolism in pregnancy

    Science.gov (United States)

    Liu, Laura X.; Arany, Zolt

    2014-01-01

    Pregnancy causes dramatic physiological changes in the expectant mother. The placenta, mostly foetal in origin, invades maternal uterine tissue early in pregnancy and unleashes a barrage of hormones and other factors. This foetal ‘invasion’ profoundly reprogrammes maternal physiology, affecting nearly every organ, including the heart and its metabolism. We briefly review here maternal systemic metabolic changes during pregnancy and cardiac metabolism in general. We then discuss changes in cardiac haemodynamic during pregnancy and review what is known about maternal cardiac metabolism during pregnancy. Lastly, we discuss cardiac diseases during pregnancy, including peripartum cardiomyopathy, and the potential contribution of aberrant cardiac metabolism to disease aetiology. PMID:24448314

  5. Association between pre- and perinatal exposures and Tourette syndrome or chronic tic disorder in the ALSPAC cohort.

    Science.gov (United States)

    Mathews, Carol A; Scharf, Jeremiah M; Miller, Laura L; Macdonald-Wallis, Corrie; Lawlor, Debbie A; Ben-Shlomo, Yoav

    2014-01-01

    Tourette syndrome and chronic tic disorder are heritable but aetiologically complex. Although environment plays a role in their development, existing studies of non-genetic risk factors are inconsistent. To examine the association between pre- and perinatal exposures and Tourette syndrome/chronic tic disorder in the Avon Longitudinal Study of Parents and Children (ALSPAC) prospective longitudinal pre-birth cohort. Relationships between exposures and Tourette syndrome/chronic tic disorder were examined in 6090 children using logistic regression. Maternal alcohol and cannabis use, inadequate maternal weight gain and parity were associated with Tourette syndrome or Tourette syndrome/chronic tic disorder. Other previously reported exposures, including birth weight and prenatal maternal smoking, were not associated with Tourette syndrome/chronic tic disorder. This study supports previously reported relationships between Tourette syndrome/chronic tic disorder and prenatal alcohol exposure, and identifies additional previously unexplored potential prenatal risk factors.

  6. Association between pre- and perinatal exposures and Tourette syndrome or chronic tic disorder in the ALSPAC cohort†

    Science.gov (United States)

    Mathews, Carol A.; Scharf, Jeremiah M.; Miller, Laura L.; Macdonald-Wallis, Corrie; Lawlor, Debbie A.; Ben-Shlomo, Yoav

    2014-01-01

    Background Tourette syndrome and chronic tic disorder are heritable but aetiologically complex. Although environment plays a role in their development, existing studies of non-genetic risk factors are inconsistent. Aims To examine the association between pre- and perinatal exposures and Tourette syndrome/chronic tic disorder in the Avon Longitudinal Study of Parents and Children (ALSPAC) prospective longitudinal pre-birth cohort. Method Relationships between exposures and Tourette syndrome/chronic tic disorder were examined in 6090 children using logistic regression. Results Maternal alcohol and cannabis use, inadequate maternal weight gain and parity were associated with Tourette syndrome or Tourette syndrome/chronic tic disorder. Other previously reported exposures, including birth weight and prenatal maternal smoking, were not associated with Tourette syndrome/chronic tic disorder. Conclusions This study supports previously reported relationships between Tourette syndrome/chronic tic disorder and prenatal alcohol exposure, and identifies additional previously unexplored potential prenatal risk factors. PMID:24262815

  7. Embryo-maternal communication

    DEFF Research Database (Denmark)

    Østrup, Esben; Hyttel, Poul; Østrup, Olga

    2011-01-01

    Communication during early pregnancy is essential for successful reproduction. In this review we address the beginning of the communication between mother and developing embryo; including morphological and transcriptional changes in the endometrium as well as epigenetic regulation mechanisms dire...... directing the placentation. An increasing knowledge of the embryo-maternal communication might not only help to improve the fertility of our farm animals but also our understanding of human health and reproduction.......Communication during early pregnancy is essential for successful reproduction. In this review we address the beginning of the communication between mother and developing embryo; including morphological and transcriptional changes in the endometrium as well as epigenetic regulation mechanisms...

  8. Maternal obesity in Europe

    DEFF Research Database (Denmark)

    Devlieger, Roland; Benhalima, Katrien; Damm, Peter

    2016-01-01

    and offspring. These effects are often aggravated by the high incidence of abnormal glucose tolerance and excessive gestational weight gain found in this group. The main controversies around the management of the obese pregnant women are related to (1) the value of repeated weighing during pregnancy, (2......, the prevalence of maternal obesity varies from 7 to 25% and seems strongly related to social and educational inequalities. Obesity during pregnancy represents an important preventable risk factor for adverse pregnancy outcomes and is associated with negative long-term health outcomes for both mothers...

  9. Maternal ethanol ingestion: effect on maternal and neonatal glucose balance

    International Nuclear Information System (INIS)

    Witek-Janusek, L.

    1986-01-01

    Liver glycogen availability in the newborn is of major importance for the maintenance of postnatal blood glucose levels. This study examined the effect of maternal ethanol ingestion on maternal and neonatal glucose balance in the rate. Female rats were placed on 1) the Lieber-DeCarli liquid ethanol diet, 2) an isocaloric liquid pair-diet, or 3) an ad libitum rat chow diet at 3 wk before mating and throughout gestation. Blood and livers were obtained from dams and rat pups on gestational days 21 and 22. The pups were studied up to 6 h in the fasted state and up to 24 h in the fed state. Maternal ethanol ingestion significantly decreased litter size, birth weight, and growth. A significantly higher mortality during the early postnatal period was seen in the prenatal ethanol exposed pups. Ethanol significantly decreased fed maternal liver glycogen stores but not maternal plasma glucose levels. The newborn rats from ethanol ingesting dams also had significantly decreased liver glycogen stores. Despite mobilizing their available glycogen, these prenatal ethanol exposed pups became hypoglycemic by 6 h postnatal. This was more marked in the fasted pups. Ethanol did not affect maternal nor neonatal plasma insulin levels. Thus maternal ethanol ingestion reduces maternal and neonatal liver glycogen stores and leads to postnatal hypoglycemia in the newborn rat

  10. Maternal Depression, Maternal Expressed Emotion, and Youth Psychopathology

    Science.gov (United States)

    Tompson, Martha C.; Pierre, Claudette B.; Boger, Kathryn Dingman; McKowen, James W.; Chan, Priscilla T.; Freed, Rachel D.

    2010-01-01

    Across development, maternal depression has been found to be a risk factor for youth psychopathology generally and youth depression specifically. Maternal Expressed Emotion (EE) has been examined as a predictor of outcome among youth with depression. The present study explored the associations between youth psychopathology and two…

  11. The effects of maternal haemoglobin as an indicator of maternal ...

    African Journals Online (AJOL)

    EB

    relationship could exist between MMA of mother-infant pairs and maternal nutritional indicator (haemoglobin). Objectives: This study reviewed the effects of maternal haemoglobin (Hb) on MMA of mother-infant pairs at birth. Methods: One hundred and fifty three mother-infant pairs were enrolled in this study using the ...

  12. Maternal leptin and body composition in the first trimester of pregnancy.

    LENUS (Irish Health Repository)

    Fattah, Chro

    2012-02-01

    BACKGROUND: Leptin is produced mainly by adipocytes. Levels are increased in women with obesity and during pregnancy. Increased levels are also associated with pregnancy complications such as, pre-eclampsia and gestational diabetes mellitus. OBJECTIVE: We studied what component of body composition correlated best with maternal leptin in the first trimester of pregnancy and, whether maternal leptin correlated better with visceral fat rather than fat distributed elsewhere. SUBJECTS AND METHODS: Women were recruited in the first trimester. Maternal adiposity was measured using body mass index and advanced bioelectrical impedance analysis. Maternal leptin was measured using an enzyme-linked immunosorbent assay technique. RESULTS: Of the 100 subjects studied, the mean leptin concentration was 37.7 ng\\/ml (range: 2.1-132.8). Leptin levels did not correlate with gestational age in the first trimester, maternal age, parity or birth weight. Serum leptin correlated positively with maternal weight and body mass index, and with the different parameters of body composition. On multiple regression analysis, serum leptin correlated with visceral fat but not fat distributed elsewhere. CONCLUSIONS: Visceral fat is the main determinant of circulating maternal leptin in the first trimester of pregnancy. This raises the possibility that maternal leptin in early pregnancy may be a marker for the development of metabolic syndrome, including diabetes mellitus.

  13. Maternal Concern for Child Undereating.

    Science.gov (United States)

    Brown, Callie L; Pesch, Megan H; Perrin, Eliana M; Appugliese, Danielle P; Miller, Alison L; Rosenblum, Katherine; Lumeng, Julie C

    To describe features of maternal concern for her child undereating; examine maternal and child correlates of maternal concern for undereating; and determine whether maternal concern for undereating is associated with feeding practices. This was a cross-sectional analysis of an observational study with 286 mother-child dyads (mean child age, 71 months). Maternal concern for undereating was assessed using a semistructured interview. Mothers completed questionnaires to assess picky eating, food neophobia, and feeding practices. Feeding practices were further assessed using videotaped mealtime observations. Logistic regression was used to assess the association of maternal and child characteristics with maternal concern for undereating. Regression was used to assess the association of maternal concern for undereating with feeding practices, controlling for covariates. Over a third of mothers (36.5%) expressed concern that their child does not eat enough. Correlates of concern for undereating included child body mass index z-score (BMIz; odds ratio [OR] = 0.58; 95% confidence interval [CI], 0.43-0.77) and picky eating (OR = 2.41; 95% CI, 1.26-4.59). Maternal concern for undereating was associated with greater reported pressure to eat (relative risk [RR] = 1.97; 95% CI, 1.55-2.50), greater observed bribery (OR = 2.63; 95% CI, 1.50-4.60), and higher observed pressure (OR = 1.90; 95% CI, 1.08-3.36) during mealtimes. Mothers of children who are picky eaters and have a lower BMIz are more likely to be concerned that their children do not eat enough, and maternal concern for undereating is associated with pressuring and bribing children to eat. Pediatricians might address maternal concern for undereating by advising feeding practices that do not involve pressure and bribery, particularly among healthy weight children. Copyright © 2016 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

  14. Analysis of preventability of hypertensive disorder in pregnancy-related maternal death using the nationwide registration system of maternal deaths in Japan.

    Science.gov (United States)

    Katsuragi, Shinji; Tanaka, Hiroaki; Hasegawa, Junichi; Nakamura, Masamitsu; Kanayama, Naohiro; Nakata, Masahiko; Murakoshi, Takeshi; Yoshimatsu, Jun; Osato, Kazuhiro; Tanaka, Kayo; Sekizawa, Akihiko; Ishiwata, Isamu; Ikeda, Tomoaki

    2018-04-26

    Hypertensive disorder of pregnancy (HDP) is a major cause of maternal death. The goal of this study was to investigate factors associated with maternal death due to HDP. HDP-related maternal deaths in Japan reported to the Committee of the Ministry of Health, Labor and Welfare from 2010 to 2015 were examined. Out of 47 cases of HDP, 30 were identified as the major cause of maternal death. The median maternal age was 34 years (range 24-45) and the mortality in women aged ≥40 years was seven times higher that than in women aged deaths in Japan. Mothers aged ≥40 years are most at risk for HDP-related maternal death. Major concerns for preventabilities were late hospitalization, maternal transportation, and termination of pregnancy for term or near-term HDP. Regular vital checks and prompt lowering of BP were lacked during labor in most cases. HELLP syndrome should be managed at a general hospital with sufficient medical resources.

  15. AN AUDIT OF THE SUDDEN-INFANT-DEATH-SYNDROME PREVENTION PROGRAM IN THE AUCKLAND REGION

    NARCIS (Netherlands)

    Obdeijn, M. C.; Tonkin, S.; Mitchell, E. A.

    1995-01-01

    Aim. An audit of the sudden infant death syndrome (SIDS) prevention programme in the Auckland region. Methods. 107 health professionals working in antenatal classes, postnatal wards, domiciliary midwifery and the Plunket Society were interviewed. Results. Maternal smoking and infant sleeping

  16. Complicaciones maternas y mortalidad perinatal en el Síndrome de Hellp: Registro multicéntrtico en unidades de cuidados intensivos del área Buenos Aires Maternal morbidity and perinatal mortality in HELLP syndrome. Multicentric studies in intensive care units in Buenos Aires area

    Directory of Open Access Journals (Sweden)

    Eduardo Malvino

    2005-03-01

    Full Text Available Se analizaron en forma retrospectiva las características clínicas, complicaciones, gravedad, y sobrevivencia materna y fetal, en un grupo de gestantes con síndrome HELLP ( Hemolysis , Elevated Liver enzyme levels, Low Platelet count que requirieron admisión en cuatro unidades de cuidados intensivos del área metropolitana Buenos Aires, Argentina. Durante el período comprendido entre marzo de 1997 y marzo de 2003 se evaluaron 62 pacientes en la segunda mitad del embarazo o el puerperio inmediato que cumplían criterios diagnósticos de hipertensión inducida por el embarazo, asociado a plaquetopenia 70 UI/l, láctico deshidrogenasa >600 UI/l, bilirrubina total >1.2 mg / dl , y/o frotis de sangre periférica con signos de hemólisis. La edad promedio fue 28 ± 8 años; número de gestas promedio 2.7 ± 2.3; edad gestacional media 33 ± 4 semanas. Según el grado de plaquetopenia, 23 casos pertenecieron a la clase 1, 29 a la clase 2 y el resto a la clase 3 de la clasificación de Martin . Hubo 16 formas eclámpticas. El recuento plaquetario promedio fue 67 604 ± 31 535/ mm3 ; TGO 271 ± 297 UI/l; TGP 209 ± 178 UI/l; LDH 1 444 ± 1 295 UI/l; creatininemia 1.1 ± 0.8 mg / dl. Cuarenta y una pacientes cursaron con diverso grado de deterioro del filtrado glomerular, con requerimiento de tratamiento hemodialítico y plasmaféresis en un caso. Se presentó insuficiencia respiratoria vinculada a síndrome de distrés respiratorio del adulto en cuatro enfermas. Todas las puérperas sobrevivieron y se comprobaron cuatro muertes perinatales. En la población estudiada, se observó baja prevalencia de complicaciones graves, óptima sobrevivencia materna y baja mortalidad perinatal.We analized the clinical characteristics, complications, severity, and maternal and fetal survival of patients suffering from HELLP syndrome ( Hemolysis , Elevated Liver enzymes level, Low Platelet count requiring admission to the intensive care unit in four hospitals from

  17. National level maternal health decisions

    NARCIS (Netherlands)

    Koduah, A.

    2016-01-01

    Maternal and neonatal deaths and morbidity still pose an enormous challenge for health authorities in Ghana, a lower middle income country. Despite massive investments in maternal and neonatal health and special attention through Millennium Development Goals (MDG) 4

  18. Maternal Involvement and Academic Achievement.

    Science.gov (United States)

    Lopez, Linda C.; Holmes, William M.

    The potential impact of several maternal involvement behaviors on teachers' ratings of children's academic skills was examined through statistical analyses. Data, based on mothers' responses to selected questions concerning maternal involvement and on teachers' ratings on the Classroom Behavior Inventory, were obtained for 115 kindergarten…

  19. Maternal Employment and Adolescent Development.

    Science.gov (United States)

    Montemayor, Raymond; Clayton, Mark D.

    1983-01-01

    The relationship between maternal employment and adolescent development is enormously complex, and no simple generalizations are possible. Many intervening variables alter the impact that maternal employment has on adolescent development. There is an urgent need to discover what impact this arrangement has on adolescent development. (CJ)

  20. ALPHA-FETOPROTEIN IN FETAL SERUM, AMNIOTIC-FLUID, AND MATERNAL SERUM

    NARCIS (Netherlands)

    VANLITH, JMM; BEEKHUIS, [No Value; VANLOON, AJ; MANTINGH, A; DEWOLF, BTHM; BREED, ASPM

    In order to gain more insight into the association between alpha-fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three

  1. The Role of Maternal-Fetal Cholesterol Transport in Early Fetal Life : Current Insights

    NARCIS (Netherlands)

    Baardman, Maria E.; Kerstjens-Frederikse, Wilhelmina S.; Berger, Rolf M. F.; Bakker, Marian K.; Hofstra, Robert M. W.; Plosch, Torsten

    The importance of maternal cholesterol as an exogenous cholesterol source for the growing embryo was first reported in studies of Smith-Lemli-Opitz syndrome. Although most of the fetus's cholesterol is synthesized by the fetus itself, there is now growing evidence that during the first weeks of

  2. The role of maternal-fetal cholesterol transport in early fetal life: Current insights

    NARCIS (Netherlands)

    T. Baardman (Taco); W.S. Kerstjens-Frederikse (Wilhelmina); R.M.F. Berger (Rolf); M.K. Bakker (Marian); R.M.W. Hofstra (Robert); T. Plösch (Torsten)

    2013-01-01

    textabstractThe importance of maternal cholesterol as an exogenous cholesterol source for the growing embryo was first reported in studies of Smith-Lemli-Opitz syndrome. Although most of the fetus's cholesterol is synthesized by the fetus itself, there is now growing evidence that during the first

  3. Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype

    NARCIS (Netherlands)

    Hordijk, R; Scheffer, H; Leegte, B; Hofstra, RMW; Stolte-Dijkstra, [No Value

    1999-01-01

    Groningen, Ne report on a boy with a maternal uniparental disomy for chromosome 14 (UPD(14)). At 7 years of age he was referred to us by the paediatrician because of symptoms of Prader-Willi syndrome (PWS). He showed short stature, obesity, mild developmental delay, cryptorchidism, and some mild

  4. Maternal smoking during pregnancy increases the risk of postnatal infections in preterm neonates

    DEFF Research Database (Denmark)

    Jeppesen, Dorthe Lisbeth; Nielsen, Susanne Dam; Ersbøll, Annette Kjær

    2008-01-01

    Background: Maternal smoking during pregnancy is known to be associated with perinatal complications such as preterm delivery, low birth weight, and sudden infant death syndrome. Objective: The purpose of this study was to evaluate the influence of smoking during pregnancy on the risk of postnata...

  5. Relationship between Maternal Language Parameters and the Child's Language Competency and Developmental Condition.

    Science.gov (United States)

    Hooshyar, Nahid T.

    Maternal language directed to 21 nonhandicapped, 21 Down syndrome, and 19 language impaired preschool children was examined. The three groups (all Caucasian and middle-class) were matched in mean length of utterance (MLU) and in developmental skills as measured on the Vineland Adaptive Behavior Scale. Mother-child language interaction was…

  6. Cushing's Syndrome

    Science.gov (United States)

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  7. Usher Syndrome

    Science.gov (United States)

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  8. Metabolic Syndrome

    Science.gov (United States)

    Metabolic syndrome is a group of conditions that put you at risk for heart disease and diabetes. These conditions ... agree on the definition or cause of metabolic syndrome. The cause might be insulin resistance. Insulin is ...

  9. Reye Syndrome

    Science.gov (United States)

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  10. Rett Syndrome

    Science.gov (United States)

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  11. Caplan syndrome

    Science.gov (United States)

    ... enable JavaScript. Rheumatoid pneumoconiosis (RP; also known as Caplan syndrome) is swelling (inflammation) and scarring of the ... avoid exposure to inorganic dust. Alternative Names RP; Caplan syndrome; Pneumoconiosis - rheumatoid; Silicosis - rheumatoid pneumoconiosis; Coal worker's ...

  12. Turner Syndrome

    Science.gov (United States)

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  13. Gardner's syndrome

    International Nuclear Information System (INIS)

    Sobrado Junior, C.W.; Bresser, A.; Cerri, G.G.; Habr-Gama, A.; Pinotti, H.W.; Magalhaes, A.

    1988-01-01

    A case of familiar poliposis of colon related to a right mandibular osteoma is reported (this association is usually called Gardner's syndrome). Radiologic pictures ae shown and some commentaries about this syndrome concerning the treatment are made. (author) [pt

  14. Sotos Syndrome

    Science.gov (United States)

    ... Clinical Trials Organizations Publications Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ... have also been reported. × Definition Sotos syndrome (cerebral gigantism) is a rare genetic disorder caused by mutation ...

  15. Felty syndrome

    Science.gov (United States)

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  16. Bartter syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000308.htm Bartter syndrome To use the sharing features on this page, please enable JavaScript. Bartter syndrome is a group of rare conditions that affect ...

  17. Pendred Syndrome

    Science.gov (United States)

    ... other possible long-term consequences of the syndrome. Children with Pendred syndrome should start early treatment to gain communication skills, such as learning sign language or cued speech or learning to ...

  18. Dravet Syndrome

    Science.gov (United States)

    ... and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related ... Publications Definition Dravet ...

  19. Congenital varicella syndrome: cranial MRI in a long-term survivor

    International Nuclear Information System (INIS)

    Deasy, N.P.; Jarosz, J.M.; Cox, T.C.S.; Hughes, E.

    1999-01-01

    Congenital varicella syndrome is a rare disorder which follows maternal infection in the first or early second trimester. The syndrome comprises a number of malformations including microcephaly, cortical destruction and limb hypoplasia. We describe a case where there has been long-term survival following second trimester maternal infection. The clinical findings, including the characteristic lower limb hypoplasia, are documented, as are the appearances on cranial MRI indicating an encephaloclastic porencephaly. (orig.) (orig.)

  20. Brief Psychotherapy for Maternal Depression: Impact on Mothers and Children.

    Science.gov (United States)

    Swartz, Holly A; Cyranowski, Jill M; Cheng, Yu; Zuckoff, Allan; Brent, David A; Markowitz, John C; Martin, Stacy; Amole, Marlissa C; Ritchey, Fiona; Frank, Ellen

    2016-06-01

    Two-generation studies demonstrate that treating maternal depression benefits school-age children. Although mothers prefer psychotherapy to medication, little is known about how psychotherapy for maternal depression affects offspring, especially in very high-risk families in which both mothers and children concurrently meet syndromal criteria for psychiatric disorders. This trial evaluated the effects of 2 brief psychotherapies for maternal depression on very high-risk families. Mothers with major depressive disorder were randomly assigned to 9 sessions of either brief interpersonal psychotherapy for mothers (IPT-MOMS; n = 85) or brief supportive psychotherapy (BSP; n = 83). Independent assessors evaluated mothers and their children, ages 7 to 18 years, diagnosed with at least 1 internalizing disorder, every 3 months over the course of 1 year. Symptoms and functioning of mothers and children improved significantly over time, with no between-group differences. However, children of mothers assigned to BSP had more outpatient mental health visits and were more likely to receive antidepressant medication. Mothers reported greater satisfaction with IPT-MOMS than BSP. Improvement in mothers' depressive symptoms was associated with improvement in child functioning in time-lagged fashion, with children improving 3 to 6 months after mothers improved. Antidepressant medication use and number of mental health visits received by children did not affect outcomes. IPT-MOMS and BSP demonstrated comparable beneficial effects on maternal depression. Children's functioning improved following maternal improvement, independent of youths' treatment. Children of mothers randomized to IPT-MOMS, compared with BSP, achieved comparable outcomes despite less follow-up treatment. Observation of lagged association between maternal improvement and change in child functioning should influence treatment planning for families. Clinical trial registration information-Psychotherapy for Depressed

  1. Down Syndrome

    Science.gov (United States)

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  2. Rowell syndrome

    Directory of Open Access Journals (Sweden)

    Ramesh Y Bhat

    2014-01-01

    Full Text Available Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine.

  3. Aicardi Syndrome

    Science.gov (United States)

    ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) × Definition Aicardi syndrome is a rare genetic ... from Aicardi-Goutieres syndrome, which is an inherited encephalopathy that affects newborn infants.) View Full Definition Treatment There is no ...

  4. Obstetric antiphospholipid syndrome.

    Science.gov (United States)

    Esteve-Valverde, E; Ferrer-Oliveras, R; Alijotas-Reig, J

    2016-04-01

    Obstetric antiphospholipid syndrome is an acquired autoimmune disorder that is associated with various obstetric complications and, in the absence of prior history of thrombosis, with the presence of antiphospholipid antibodies directed against other phospholipids, proteins called cofactors or PL-cofactor complexes. Although the obstetric complications have been related to the procoagulant properties of antiphospholipid antibodies, pathological studies of human placenta have shown the proinflammatory capacity of antiphospholipid antibodies via the complement system and proinflammatory cytokines. There is no general agreement on which antiphospholipid antibodies profile (laboratory) confers the greatest obstetric risk, but the best candidates are categories I and IIa. Combined treatment with low doses of aspirin and heparin achieves good obstetric and maternal outcomes. In this study, we also review the therapeutic possibilities in refractory cases, although the likelihood of progressing to other autoimmune diseases is low. We briefly comment on incomplete obstetric antiphospholipid syndrome, also known as antiphospholipid antibody-mediated pregnancy morbidity syndrome. Copyright © 2015 Elsevier España, S.L.U. y Sociedad Española de Medicina Interna (SEMI). All rights reserved.

  5. Maternal employment, breastfeeding, and health: evidence from maternity leave mandates.

    Science.gov (United States)

    Baker, Michael; Milligan, Kevin

    2008-07-01

    Public health agencies around the world have renewed efforts to increase the incidence and duration of breastfeeding. Maternity leave mandates present an economic policy that could help achieve these goals. We study their efficacy, focusing on a significant increase in maternity leave mandates in Canada. We find very large increases in mothers' time away from work post-birth and in the attainment of critical breastfeeding duration thresholds. We also look for impacts of the reform on self-reported indicators of maternal and child health captured in our data. For most indicators we find no effect.

  6. Radionuclides and maternal lactation

    International Nuclear Information System (INIS)

    Zamora, H.H.

    1989-01-01

    The increase in the number of nuclear medicine centers, both official and private in the country, as well as the increase in the number of patients, due to the effectiveness of their diagnostic and therapeutic procedures, brings out new situations that must be studied from the point of view of radioprotection. This work makes a revision in the medical literature about procedures with radioisotopes during the maternal nursing period. In general, it is recommended to stop nursing for 24 hours for 99mtc test, and to resume it after the draining of the milky content. This can be done in spite of the sensitivity of the target organ of the baby, because the dosage will be below permissible limits accepted by international agencies with respect to diagnostic test and I-131 treatment, and if continuing nursing is desired, it is recommended to use other diagnostic or therapeutic procedures before discontinuing the most important nutritional resource at this age

  7. Fortification of maternal milk

    Directory of Open Access Journals (Sweden)

    Cecilia Di Natale

    2013-06-01

    Full Text Available The beneficial effects of human milk (HM, well recognized for the term infant, extend to the feeding of premature infants, because their nutrition support must be designed to compensate for metabolic and gastrointestinal immaturity, immunologic compromise, and maternal psycosocial conditions. Studies show that preterm milk contains higher protein levels and more fat than term human milk. The American Academy of Pediatrics recommended that preterm neonates should receive sufficient nutrients to enable them to grow at a rate similar to that of fetuses of the same gestational age. There are no doubts about the fact that maternal milk is the best food for all neonates, but unfortified human breast milk may not meet the recommended nutritional needs of growing preterm infants. Human milk must therefore be supplemented (fortified with the nutrients in short supply. The objective of fortification is to increase the concentration of nutrients to such levels that at the customary feeding volumes infants receive amounts of all nutrients that meet the requirements. The are two different forms of fortification of human milk: standard and individualized. The new concepts and recommendations for optimization of human milk fortification is the “individualized fortification”. Actually, two methods have been proposed for individualization: the “targeted/tailored fortification” and the “adjustable fortification”. In summary, the use of fortified human milk produces adequate growth in premature infants and satisfies the specific nutritional requirements of these infants. The use of individualized fortification is recommended. Proceedings of the 9th International Workshop on Neonatology · Cagliari (Italy · October 23rd-26th, 2013 · Learned lessons, changing practice and cutting-edge research

  8. Dravets syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

  9. Neuroendocrine Regulation of Maternal Behavior

    Science.gov (United States)

    Bridges, Robert S.

    2015-01-01

    The expression of maternal behavior in mammals is regulated by the developmental and experiential events over a female’s lifetime. In this review the relationships between the endocrine and neural systems that play key roles in these developmental and experiential that affect both the establishment and maintenance of maternal care are presented. The involvement of the hormones estrogen, progesterone, and lactogens are discussed in the context of ligand, receptor, and gene activity in rodents and to a lesser extent in higher mammals. The roles of neuroendocrine factors, including oxytocin, vasopressin, classical neurotransmitters, and other neural gene products that regulate aspects of maternal care are set forth, and the interactions of hormones with central nervous system mediators of maternal behavior are discussed. The impact of prior developmental factors, including epigenetic events, and maternal experience on subsequent maternal care are assessed over the course of the female’s lifespan. It is proposed that common neuroendocrine mechanisms underlie the regulation of maternal care in mammals. PMID:25500107

  10. Effect of ethanol consumption during gestation on maternal-fetal amino acid metabolism in the rat

    International Nuclear Information System (INIS)

    Lin, G.W.

    1981-01-01

    The distribution of 14 C-alpha-aminoisobutyric acid (AIB), administered intravenously, in maternal, fetal and placental tissues was examined in the rat on gestation-day 21. Ethanol consumption during gestation (day 6 through 21) significantly reduced the uptake of AIB by the placenta and fetus while exerting no influence on maternal tissue AIB uptake. The concentration of fetal plasma free histidine was decreased 50% as a result of maternal ethanol ingestion, but the free histidine level of maternal plasma was not altered. Since no effect on protein content of fetal tissue could be detected, it is speculated that reduced histidine to the fetus might significantly alter the amounts of histamine and carnosine formed via their precursor. The significance of these findings in relation to the Fetal Alcohol Syndrome is discussed

  11. Mother-Child Interaction as a Window to a Unique Social Phenotype in 22q11.2 Deletion Syndrome and in Williams Syndrome

    Science.gov (United States)

    Weisman, Omri; Feldman, Ruth; Burg-Malki, Merav; Keren, Miri; Geva, Ronny; Diesendruck, Gil; Gothelf, Doron

    2015-01-01

    Mother-child interactions in 22q11.2 Deletion syndrome (22q11.2DS) and Williams syndrome (WS) were coded for maternal sensitivity/intrusiveness, child's expression of affect, levels of engagement, and dyadic reciprocity. WS children were found to express more positive emotions towards their mothers compared to 22q11.2DS children and those with…

  12. Maternal analgosedation and breastfeeding: guidance for the pediatrician

    Directory of Open Access Journals (Sweden)

    Karel Allegaert

    2015-03-01

    Full Text Available As part of analgosedative treatment modalities after delivery (e.g. caesarean related pain, birth related trauma, pre-existing pain syndromes, mothers are treated with different analgosedatives that may also affect the nursing infant. This review aims to summarize the available knowledge on commonly prescribed analgosedatives (opioids, intravenous and inhalational anesthetics, benzodiazepines, non-opioid analgesics, and local anesthetics during breastfeeding. We propose that the use of systemic non-opioid analgesics, local anesthetics, inhalational or intravenous anesthetics is safe when mothers are nursing. When systemic opioids are used, we recommend pediatricians to consider clinical monitoring of the infant for sedation. The duration of maternal exposure (> 4 days and the presence of maternal signs of somnolence are hereby of additional relevance. We encourage research groups to report on their specific observations and expertise in order to further validate the current practices and guidance.

  13. Prenatal exposure to very severe maternal obesity is associated with adverse neuropsychiatric outcomes in children.

    Science.gov (United States)

    Mina, T H; Lahti, M; Drake, A J; Räikkönen, K; Minnis, H; Denison, F C; Norman, J E; Reynolds, R M

    2017-01-01

    Prenatal maternal obesity has been linked to adverse childhood neuropsychiatric outcomes, including increased symptoms of attention deficit hyperactivity disorder (ADHD), internalizing and externalizing problems, affective disorders and neurodevelopmental problems but few studies have studied neuropsychiatric outcomes among offspring born to very severely obese women or assessed potential familial confounding by maternal psychological distress. We evaluated neuropsychiatric symptoms in 112 children aged 3-5 years whose mothers had participated in a longitudinal study of obesity in pregnancy (50 very severe obesity, BMI ⩾40 kg/m2, obese class III and 62 lean, BMI 18.5-25 kg/m2). The mothers completed the Conners' Hyperactivity Scale, Early Symptomatic Syndrome Eliciting Neurodevelopmental Clinical Examination Questionnaire (ESSENCE-Q), Child's Sleep Habits Questionnaire (CSHQ), Strengths and Difficulties Questionnaire (SDQ), and Child Behavior Checklist (CBCL) to assess child neuropsychiatric symptoms. Covariates included child's sex, age, birthweight, gestational age, socioeconomic deprivation levels, maternal age, parity, smoking status during pregnancy, gestational diabetes and maternal concurrent symptoms of anxiety and depression assessed using State Anxiety of Spielberger State-Trait Anxiety Index (STAI) and General Health Questionnaire (GHQ), respectively. Children exposed to prenatal maternal very severe obesity had significantly higher scores in the Conners' Hyperactivity Scale; ESSENCE-Q; total sleep problems in CSHQ; hyperactivity, conduct problems and total difficulties scales of the SDQ; higher externalizing and total problems, anxious/depressed, aggressive behaviour and other problem syndrome scores and higher DSM-oriented affective, anxiety and ADHD problems in CBCL. Prenatal maternal very severe obesity remained a significant predictor of child neuropsychiatric problems across multiple scales independent of demographic factors, prenatal factors and

  14. PPO.02 Severe maternal morbidity in Ireland

    NARCIS (Netherlands)

    Manning, E.; Lutomski, J.E.; O'Connor, L.; Corcoran, P.; Greene, R.

    2014-01-01

    OBJECTIVE: To assess the incidence of severe maternal morbidity (SMM) and examine associated factors in Ireland. METHODS: In 2011, 67,806 maternities were reported from 19 maternity units, representing 93% of maternities in Ireland. SMM was classified as the presence of one or more of 15 categories

  15. Regional differences in Dutch maternal mortality

    NARCIS (Netherlands)

    de Graaf, J.P.; Schutte, J.M.; Poeran, J.J.; van Roosmalen, J.; Bonsel, G.J.; Steegers, E.A.P.

    2012-01-01

    Objective To study regional differences in maternal mortality in the Netherlands. Design Confidential inquiry into the causes of maternal mortality. Setting Nationwide. Population A total of 3 108 235 live births and 337 maternal deaths. Methods Data analysis of all maternal deaths in the period

  16. Rise in maternal mortality in the Netherlands

    NARCIS (Netherlands)

    Schutte, J. M.; Steegers, E. A. P.; Schuitemaker, N. W. E.; Santema, J. G.; de Boer, K.; Pel, M.; Vermeulen, G.; Visser, W.; van Roosmalen, J.

    2010-01-01

    To assess causes, trends and substandard care factors in maternal mortality in the Netherlands. Design Confidential enquiry into the causes of maternal mortality. Nationwide in the Netherlands. 2,557,208 live births. Data analysis of all maternal deaths in the period 1993-2005. Maternal mortality.

  17. Imaging clues in the prenatal diagnosis of syndromes and aneuploidy

    International Nuclear Information System (INIS)

    Estroff, Judy A.

    2012-01-01

    Advances in fetal sonography and MRI have increased both the range and diagnostic accuracy of detectable fetal anomalies, with many anomalies detectable earlier in pregnancy. The presence of structural anomalies greatly raises the risk that the fetus has a syndrome or abnormal karyotype. In addition, new techniques in maternal serum screening have greatly increased the ability to identify pregnant patients at risk for anomalies and syndromes. This paper reviews maternal first- and second-trimester serum screening and imaging and covers many of the most common fetal karyotypic and structural anomalies. (orig.)

  18. Imaging clues in the prenatal diagnosis of syndromes and aneuploidy

    Energy Technology Data Exchange (ETDEWEB)

    Estroff, Judy A. [Harvard Medical School, Fetal-Neonatal Radiology, Boston, MA (United States); Children' s Hospital Boston, Advanced Fetal Care Center, Department of Radiology, Boston, MA (United States)

    2012-01-15

    Advances in fetal sonography and MRI have increased both the range and diagnostic accuracy of detectable fetal anomalies, with many anomalies detectable earlier in pregnancy. The presence of structural anomalies greatly raises the risk that the fetus has a syndrome or abnormal karyotype. In addition, new techniques in maternal serum screening have greatly increased the ability to identify pregnant patients at risk for anomalies and syndromes. This paper reviews maternal first- and second-trimester serum screening and imaging and covers many of the most common fetal karyotypic and structural anomalies. (orig.)

  19. Improving Outpatient’s Quality of Life Through Patient Adherence of Antihypertensive Therapy Using “Mobile Phone (SMS and Brief Counseling‑5A” in Polyclinic of Internal Medicine at PKU Muhammadiyah Bantul Hospital, Yogyakarta

    Directory of Open Access Journals (Sweden)

    Ginanjar Z. Saputri

    2017-06-01

    Full Text Available The Health-Related Quality of Life (HRQoL is one of the important psycho-social characteristics that can affect patient’s ability to manage therapy. Poor of knowledge of hypertension and the changing lifestyle can affect the quality of life of patients. One of the pharmacist’s interventions in hypertension management is to conduct counseling. Motivational counseling helps health service to assess patient’s understanding and patient’s readiness to change patient’s behavior. Some motivational counseling methods still need to be developed. Therefore, this study aims to find the influence of the “brief counseling-5A” and “motivational SMS” by a pharmacist on the quality of life and blood pressure control in hypertension patients in the internal disease polyclinic, PKU Muhammadiyah Bantul Hospital, Yogyakarta. The study has been done by using the quasi-experimental method with prospective data collection during the period of January until April 2013. Sixty patients have met inclusion criteria and were divided into two groups. Thirty patients (50% received “brief counseling-5A” and “motivational SMS” as intervention group and the other thirty patients (50% received usual care as a control group. The data collection was done by interviewing patients. Medication adherence and QoL were assessed by using Morisky Medication Adherence Scale (MMAS and SF-36. The values of blood pressure are taken from patient’s medical records. Patient’s quality of life showed a good improvement during post study. It is shown in 8 different domains including pain, fatigue, physical function, emotional function, social function, role physical, mental health, and general health. In intervention group, physical function, emotional function, and pain showed highly significant improvement (p<0.05. Systolic and diastolic blood pressure in the intervention group decreased significantly (p<0.05 (systolic p=0.001 and diastolic p=0.018 in the post study

  20. Hepatitis E and Maternal Deaths

    Centers for Disease Control (CDC) Podcasts

    Dr. Alain Labrique, assistant professor in the Department of International Health and Department of Epidemiology at the Bloomberg School of Public Health, gives us his perspective on hepatitis E and maternal deaths.

  1. Maternity leave in normal pregnancy.

    Science.gov (United States)

    Leduc, Dean

    2011-08-01

    To assist maternity care providers in recognizing and discussing health- and illness-related issues in pregnancy and their relationship to maternity benefits. Published literature was retrieved through searches of PubMed or Medline, CINAHL, and The Cochrane Library in 2009 using appropriate controlled vocabulary (e.g., maternity benefits) and key words (e.g., maternity, benefits, pregnancy). Results were restricted to systematic reviews, randomized controlled trials/controlled clinical trials, and observational studies. There were no date or language restrictions. Searches were updated on a regular basis and incorporated in the guideline to December 2009. Grey (unpublished) literature was identified through searching the web sites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies.

  2. Maternal Employment and Childhood Obesity

    DEFF Research Database (Denmark)

    Gwozdz, Wencke; Sousa-Poza, Alfonso; Reisch, Lucia

    2013-01-01

    The substantial increase in female employment rates in Europe over the past two decades has often been linked in political and public rhetoric to negative effects on child development, including obesity. We analyse this association between maternal employment and childhood obesity using rich...... on obesity's main drivers: calorie intake and physical activity. Our analysis provides little evidence for any association between maternal employment and childhood obesity, diet or physical activity....

  3. Maternal Employment and Childhood Obesity

    DEFF Research Database (Denmark)

    Gwozdz, Wencke; Sousa-Poza, Alfonso; Reisch, Lucia

    The substantial increase in female employment rates in Europe over the past two decades has often been linked in political and public rhetoric to negative effects on child development, including obesity. We analyse this association between maternal employment and childhood obesity using rich...... on obesity's main drivers: calorie intake and physical activity. Our analysis provides little evidence for any association between maternal employment and childhood obesity, diet or physical activity....

  4. Paradoxes of maternal mourning.

    Science.gov (United States)

    Brice, C W

    1991-02-01

    It has been customary to conceptualize mourning as a phasic or stage phenomenon (Lindemann 1944; Parkes 1972; Bowlby 1980; Knapp 1986). Such a conceptualization has proved to be of tremendous didactic value, especially in terms of succinctly organizing and communicating the major affects, behaviors, and reactions of mourning. It is, however, my belief, based upon clinical experience with many forms of bereavement, that the phenomenon of mourning is not comprised of clearly delineated stages and phases. I have come to conceptualize the phenomenon of mourning the death of a loved person as involving the bereaved's struggle with a series of more or less unresolvable paradoxes rather than as a progression through stages that possess relatively distinct and predictable beginning and ending points. The specific paradoxes encountered by a bereaved person differ, of course, in accordance with the relationship that was lost (mother, father, spouse, child, or sibling), the developmental stage of the bereaved (childhood, adolescence, adulthood, or maturity), the type of death (sudden or prolonged), and the cause of death (illness, murder, suicide, or accident). In this paper, I will address those paradoxes that seem specific to maternal mourning - that is, to mothers who are mourning the death of a child.

  5. Urofacial syndrome

    Directory of Open Access Journals (Sweden)

    Kamal F Akl

    2012-01-01

    Full Text Available The urofacial syndrome is characterized by functional obstructive uropathy asso-ciated with an inverted smile. The importance of the subject is that it sheds light, not only on the muscles of facial expression, but also on the inheritance of voiding disorders and lower urinary tract malformations. We report a 10-year-old-male patient who had the urofacial syndrome. Early diagnosis of the urofacial syndrome is important to avoid upper urinary tract damage and renal failure.

  6. Refeeding syndrome

    OpenAIRE

    Tripathy, Swagata; Mishra, Padmini; Dash, S. C.

    2008-01-01

    Refeeding syndrome is a potentially fatal medical condition that may affect malnourished patients in response to an inappropriately rapid overfeeding. This commonly occurs following the institution of nutritional support, especially parenteral or enteral nutrition. The most characteristic pathophysiology of refeeding syndrome relates to the rapid consumption of phosphate after glucose intake and subsequent hypophosphatemia. Refeeding syndrome can manifest as either metabolic changes (hypokala...

  7. Revesz syndrome

    Directory of Open Access Journals (Sweden)

    Dayane Cristine Issaho

    2015-04-01

    Full Text Available Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.

  8. Maternal Super Obesity and Neonatal Morbidity after Term Cesarean Delivery.

    Science.gov (United States)

    Smid, Marcela C; Vladutiu, Catherine J; Dotters-Katz, Sarah K; Manuck, Tracy A; Boggess, Kim A; Stamilio, David M

    2016-10-01

    Objective To estimate the association between maternal super obesity (body mass index [BMI] ≥ 50 kg/m(2)) and neonatal morbidity among neonates born via cesarean delivery (CD). Methods Retrospective cohort of singleton neonates delivered via CD ≥ 37 weeks in the Maternal-Fetal Medicine Unit Cesarean Registry. Maternal BMI at delivery was stratified as 18.5 to 29.9 kg/m(2), 30 to 39.9 kg/m(2), 40 to 49.9 kg/m(2), and ≥ 50 kg/m(2). Primary outcomes included acute (5-minute Apgar score neonatal injury, and/or transient tachypnea of the newborn) and severe (grade 3 or 4 intraventricular hemorrhage, necrotizing enterocolitis, seizure, respiratory distress syndrome, hypoxic ischemic encephalopathy, meconium aspiration, ventilator support ≥ 2 days, sepsis and/or neonatal death) neonatal morbidity. Odds of neonatal morbidity were estimated for each BMI category adjusting for clinical and operative characteristics. Results Of 41,262 maternal-neonatal dyads, 36% of women were nonobese, 49% had BMI of 30 to 39.9 kg/m(2), 12% had BMI of 40 to 49.9 kg/m(2), and 3% were super obese. Compared with nonobese women, super obese women had twofold odds of acute (5 vs. 10%; adjusted odds ratio [aOR]: 1.81, 95% confidence interval [CI]: 1.59-2.73) and severe (3 vs. 6%; aOR: 2.08; 95% CI: 1.59-2.73) neonatal morbidity. Conclusion Among term infants delivered via CD, maternal super obesity is associated with increased risk of neonatal morbidity. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  9. Role for Genetic Anticipation in Lynch Syndrome

    DEFF Research Database (Denmark)

    Nilbert, Mef; Timshel, Susanne; Bernstein, Inge

    2009-01-01

    PURPOSE: Anticipation (ie, an earlier age at onset in successive generations) is linked to repeat expansion in neurodegenerative syndromes, whereas its role in hereditary cancer is unclear. We assessed anticipation in Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]), in which DNA...... mismatch repair (MMR) defects cause early and accelerated tumor development with a broad tumor spectrum. PATIENTS AND METHODS: In the population-based Danish HNPCC registry, 407 MMR gene mutation carriers who had developed cancer associated with Lynch syndrome, were identified. These individuals formed 290....... The effect remained when cancers diagnosed at surveillance were excluded, applied to maternal as well as paternal inheritance, and was independent of the MMR gene mutated. CONCLUSION: The effect from anticipation demonstrated in this large, population-based Lynch syndrome cohort underscores the need...

  10. [Maternal-placental interactions and fetal programming].

    Science.gov (United States)

    Kadyrov, M; Moser, G; Rath, W; Kweider, N; Wruck, C J; Pufe, T; Huppertz, B

    2013-06-01

    Pregnancy-related complications not only represent a risk for maternal and fetal morbidity and mortality, but are also a risk for several diseases later in life. Many epidemiological studies have shown clear associations between an adverse intrauterine environment and an increased risk of diabetes, hypertension, cardiovascular disease, depression, obesity, and other chronic diseases in the adult. Some of these syndromes could be prevented by avoiding adverse stimuli or insults including psychological stress during pregnancy, intake of drugs, insufficient diet and substandard working conditions. Hence, all of these stimuli have the potential to alter health later in life. The placenta plays a key role in regulating the nutrient supply to the fetus and producing hormones that control the fetal as well as the maternal metabolism. Thus, any factor or stimulus that alters the function of the hormone producing placental trophoblast will provoke critical alterations of placental function and hence could induce programming of the fetus. The factors that change placental development may interfere with nutrient and oxygen supply to the fetus. This may be achieved by a direct disturbance of the placental barrier or more indirectly by, e. g., disturbing trophoblast invasion. For both path-ways, the respective pathologies are known: while preeclampsia is caused by alterations of the villous trophoblast, intra-uterine growth restriction is caused by insufficient invasion of the extravillous trophoblast. In both cases the effect can be undernutrition and/or fetal hypoxia, both of which adversely affect organ development, especially of brain and heart. However, the mechanisms responsible for disturbances of trophoblast differentiation and function remain elusive. © Georg Thieme Verlag KG Stuttgart · New York.

  11. Reye's Syndrome

    Science.gov (United States)

    ... that contain aspirin. Some hospitals and medical facilities conduct newborn screenings for fatty acid oxidation disorders to determine which children are at greater risk of developing Reye's syndrome. ...

  12. Marfan Syndrome (For Teens)

    Science.gov (United States)

    ... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

  13. Learning about Marfan Syndrome

    Science.gov (United States)

    ... Additional Resources for Marfan Syndrome What is Marfan syndrome? Marfan syndrome is one of the most common inherited ... FAQ Top of page Additional Resources For Marfan Syndrome Marfan syndrome [nlm.nih.gov] From Medline Plus Marfan ...

  14. Russell-Silver syndrome

    Science.gov (United States)

    Silver-Russell syndrome; Silver syndrome; RSS; Russell-Silver syndrome ... One in 10 children with this syndrome has a problem involving chromosome 7. In other people with the syndrome, it may affect chromosome 11. Most of the time, it ...

  15. What Is Usher Syndrome?

    Science.gov (United States)

    ... Action You are here Home › Retinal Diseases Listen Usher Syndrome What is Usher syndrome? How is Usher syndrome ... available? Are there any related diseases? What is Usher Syndrome? Usher syndrome is an inherited condition characterized by ...

  16. Cushing's syndrome in pregnancy and neonatal hypertrophic obstructive cardiomyopathy.

    Science.gov (United States)

    Fayol, L; Masson, P; Millet, V; Simeoni, U

    2004-10-01

    Cushing's syndrome is rare in pregnancy but can cause spontaneous abortion, stillbirth or premature birth. We report a case of transient hypertrophic obstructive cardiomyopathy in a newborn whose mother had hypercortisolism due to a primary adrenal lesion. There was no family history of hypertrophic obstructive cardiomyopathy. Follow-up revealed complete resolution of the cardiac abnormalities in the infant. Cushing's syndrome in the mother resolved after delivery. Although maternal hypercortisolism seldom results in symptomatic hypercortisolism in the newborn, hypertrophic obstructive cardiomyopathy can occur.

  17. Maternal scaffolding behavior: links with parenting style and maternal education.

    Science.gov (United States)

    Carr, Amanda; Pike, Alison

    2012-03-01

    The purpose of this study was to specify the relationship between positive and harsh parenting and maternal scaffolding behavior. A 2nd aim was to disentangle the effects of maternal education and parenting quality, and a 3rd aim was to test whether parenting quality mediated the association between maternal education and scaffolding practices. We examined associations between positive and harsh parenting practices and contingent and noncontingent tutoring strategies. Ninety-six mother-child dyads (49 boys, 47 girls) from working- and middle-class English families participated. Mothers reported on parenting quality at Time 1 when children were 5 years old and again approximately 5 years later at Time 2. Mother-child pairs were observed working together on a block design task at Time 2, and interactions were coded for contingent (contingent shifting) and noncontingent (fixed failure feedback) dimensions of maternal scaffolding behavior. Positive and harsh parenting accounted for variance in contingent behavior over and above maternal education, whereas only harsh parenting accounted for unique variance in noncontingent scaffolding practices. Our findings provide new evidence for a more differentiated model of the relation between general parenting quality and specific scaffolding behaviors. PsycINFO Database Record (c) 2012 APA, all rights reserved.

  18. Inactivation of the maternal fragile X gene results in sensitization of GABAB receptor function in the offspring

    OpenAIRE

    Zupan, Bojana; Toth, Miklos

    2008-01-01

    Fragile X syndrome is an X linked disorder caused by the inactivation of the FMR-1 gene with symptoms ranging from impaired cognitive functions to seizures, anxiety, sensory abnormalities and hyperactivity. Although Fragile X syndrome is considered a typical Mendelian disorder, we have recently reported that the environment, specifically the fmr-1+/− or fmr-1−/− (H or KO) maternal environment, elicits on its own a partial fragile X-like phenotype and can contribute to the overall phenotype of...

  19. A link between thrifty phenotype and maternal care across two generations of intercrossed mice.

    Directory of Open Access Journals (Sweden)

    Bruno Sauce

    Full Text Available Maternal effects are causal influences from mother to offspring beyond genetic information, and have lifelong consequences for multiple traits. Previously, we reported that mice whose mothers did not nurse properly had low birth weight followed by rapid fat accumulation and disturbed development of some organs. That pattern resembles metabolic syndromes known collectively as the thrifty phenotype, which is believed to be an adaptation to a stressful environment which prepares offspring for reduced nutrient supply. The potential link between maternal care, stress reactivity, and the thrifty phenotype, however, has been poorly explored in the human and animal literature: only a couple of studies even mention (much less, test these concepts under a cohesive framework. Here, we explored this link using mice of the parental inbred strains SM/J and LG/J-who differ dramatically in their maternal care-and the intercrossed generations F1 and F2. We measured individual differences in 15 phenotypes and used structural equation modeling to test our hypotheses. We found a remarkable relationship between thrifty phenotype and lower quality of maternal behaviors, including nest building, pup retrieval, grooming/licking, and nursing. To our knowledge, this is the first study to show, in any mammal, a clear connection between the natural variation in thrifty phenotype and maternal care. Both traits in the mother also had a substantial effect on survival rate in the F3 offspring. To our surprise, however, stress reactivity seemed to play no role in our models. Furthermore, the strain of maternal grandmother, but not of paternal grandmother, affected the variation of maternal care in F2 mice, and this effect was mediated by thrifty phenotype in F2. Since F1 animals were all genetically identical, this finding suggests that maternal effects pass down both maternal care and thrifty phenotype in these mice across generations via epigenetic transmission.

  20. Seckel syndrome: an overdiagnosed syndrome.

    OpenAIRE

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There r...

  1. Combined measurement of maternal serum FE3 and HPL for determination of fetus-placenta function

    International Nuclear Information System (INIS)

    Peng Yangshui; Li Gefang; Xia Dingwen

    2003-01-01

    Objective: To investigate the clinical application of combined measurement of maternal serum FE 3 and HPL for determination of fetus-placenta function. Methods: Maternal serum FE 3 and HPL levels were measured with RIA in 86 complicated and 39 non-complicated pregnant women. Results: Serum FE 3 contents in pregnant women complicated with hypertensive syndrome, intrauterine fetal distress, gestation above 33 wks complicated with diabetes and 3rd grade placenta were significantly lower than those in non-complicated ones (p 3 and HPL could improve the early diagnosis of high-risk pregnancies

  2. Altered placental development in undernourished rats: role of maternal glucocorticoids

    Directory of Open Access Journals (Sweden)

    Chen Chun-Hung

    2011-08-01

    Full Text Available Abstract Maternal undernutrition (MUN during pregnancy may lead to fetal intrauterine growth restriction (IUGR, which itself predisposes to adult risk of obesity, hypertension, and diabetes. IUGR may stem from insufficient maternal nutrient supply or reduced placental nutrient transfer. In addition, a critical role for maternal stress-induced glucocorticoids (GCs has been suggested to contribute to both IUGR and the ensuing risk of adult metabolic syndrome. While GC-induced fetal organ defects have been examined, there have been few studies on placental responses to MUN-induced maternal stress. Therefore, we hypothesize that 50% MUN associates with increased maternal GC levels and decreased placental HSD11B. This in turn leads to decreased placental and fetal growth, hence the need to investigate nutrient transporters. We measured maternal serum levels of corticosterone, and the placental basal and labyrinth zone expression of glucocorticoid receptor (NR3C1, 11-hydroxysteroid dehydrogenase B 1 (HSD11B-1 predominantly activates cortisone to cortisol and 11-dehydrocorticosterone (11-DHC to corticosterone, although can sometimes drive the opposing (inactivating reaction, and HSD11B-2 (only inactivates and converts corticosterone to 11-DHC in rodents in control and MUN rats at embryonic day 20 (E20. Moreover, we evaluated the expression of nutrient transporters for glucose (SLC2A1, SLC2A3 and amino acids (SLC38A1, 2, and 4. Our results show that MUN dams displayed significantly increased plasma corticosterone levels compared to control dams. Further, a reduction in fetal and placental weights was observed in both the mid-horn and proximal-horn positions. Notably, the placental labyrinth zone, the site of feto-maternal exchange, showed decreased expression of HSD11B1-2 in both horns, and increased HSD11B-1 in proximal-horn placentas, but no change in NR3C1. The reduced placental GCs catabolic capacity was accompanied by downregulation of SLC2A3, SLC

  3. The HELLP syndrome : Its association with unexplained elevation of MSAFP and MShCG in the second trimester

    NARCIS (Netherlands)

    Morssink, LP; Heringa, MP; Beekhuis, [No Value; DeWolf, BTHM; Mantingh, A

    In this study, we examined the relationship between concentrations of maternal serum alpha-fetoprotein (MSAFP) and maternal serum human chorionic gonadotropin (MShCG) in the second trimester and the 'haemolysis, elevated liver enzymes, low platelet count' (HELLP) syndrome. The concentrations of both

  4. Burnout Syndrome

    OpenAIRE

    Panova, Gordana; Panov, Nenad; Stojanov, H; Sumanov, Gorgi; Panova, Blagica; Stojanovski, Angel; Nikolovska, Lence; Jovevska, Svetlana; Trajanovski, D; Asanova, D

    2013-01-01

    Introduction: Increasing work responsibilities, allocation of duties, loss of energy and motivation in everyday activities, emotional exhaustion, lack of time for themselves, insuffi cient time for rest and recreation, dissatisfaction in private life. All these symptoms can be cause of Burnout Syndrome. Aim: To see the importance of this syndrome, the consequences of job dissatisfaction, the environment, family and expression in drastic chan...

  5. Tourette Syndrome

    Science.gov (United States)

    If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...

  6. Fahr's Syndrome

    Science.gov (United States)

    ... or 50s, although it can occur at any time in childhood or adolescence. × Definition Fahr's Syndrome is a rare, genetically dominant, inherited ... or 50s, although it can occur at any time in childhood or adolescence. View Full Definition Treatment There is no cure for Fahr's Syndrome, ...

  7. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine; Bødtger, Uffe; Heltberg, Ole

    2014-01-01

    Lemierre's syndrome is an often un-diagnosed disease seen in previously healthy young subjects, presenting with symptoms of pharyngitis, fever and elevated markers of inflammation. The syndrome is characterised by infectious thrombosis of the jugular vein due to infection with Fusobacteria, causing...

  8. Ambras syndrome

    Directory of Open Access Journals (Sweden)

    Sudhir Malwade

    2015-01-01

    Full Text Available Ambras syndrome, a form of congenital hypertrichosis lanuginosa, is extremely rare in neonates. It is characterized by typical pattern of hair distribution, dysmorphic facial features and a familial pattern of inheritance. We report a case of Ambras syndrome in a preterm neonate with history of consanguinity and positive family history.

  9. Antiphospholipid syndrome

    DEFF Research Database (Denmark)

    Cervera, Ricard; Piette, Jean-Charles; Font, Josep

    2002-01-01

    To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression.......To analyze the clinical and immunologic manifestations of antiphospholipid syndrome (APS) in a large cohort of patients and to define patterns of disease expression....

  10. Noonan syndrome

    OpenAIRE

    Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

    2013-01-01

    Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid ris...

  11. Prehospital maternity care in Norway.

    Science.gov (United States)

    Egenberg, Signe; Puntervoll, Stein Atle; Øian, Pål

    2011-11-29

    Out-of-hospital maternity care in Norway is randomly organised and not properly formalized. We wished to examine the extent, organisation and quality of this service. We obtained information from the Norwegian Medical Birth Registry on all unplanned out-of-hospital births in 2008. A questionnaire was sent to all maternity institutions, municipalities and emergency dispatch centres, with questions regarding the practical and formal organisation of the service using figures from 2008. 430 children, all above 22 weeks gestation, were born unplanned outside of hospitals in Norway in 2008. Of these, 194 were born unplanned at home, 189 while being transported and 47 in other locations (doctor's offices, infirmaries, unknown). Five out of 53 maternity institutions (9 %) confirmed they had a formal midwife service agreement for out-of-hospital births. 247 municipalities (79 %) claimed to have no such assistance. Of these, 33 are located at least 90 minutes away from the nearest maternity ward. Half of the emergency dispatch centres had no registration identifying formal agreements on assistance by midwives for out-of-hospital births. There is an urgent need to put in place formal agreements between the regional health authorities and the municipalities on out-of-hospital midwife services. A distance of 90 minutes' journey time to a maternity ward to fulfil the right to qualified assistance is not well-founded.

  12. Pregnancy and Antiphospholipid Syndrome

    DEFF Research Database (Denmark)

    Schreiber, Karen; Hunt, Beverley J

    2016-01-01

    Antiphospholipid syndrome (APS) is classified as the association of thrombotic events and/or obstetric morbidity in patients persistently positive for antiphospholipid antibodies (aPL). APS is also the most frequently acquired risk factor for a treatable cause of recurrent pregnancy loss and incr......Antiphospholipid syndrome (APS) is classified as the association of thrombotic events and/or obstetric morbidity in patients persistently positive for antiphospholipid antibodies (aPL). APS is also the most frequently acquired risk factor for a treatable cause of recurrent pregnancy loss...... and increases the risk of conditions associated with ischemic placental dysfunction, such as stillbirth, intrauterine death, preeclampsia, premature birth, and fetal growth restriction. The use of low-dose aspirin and heparin has improved the pregnancy outcome in obstetric APS and approximately 70% of pregnant...... women with APS will deliver a viable live infant. However, current management does not prevent all maternal, fetal, and neonatal complications of APS and the current treatment fails in 20 to 30% of APS pregnancies, raising the need to explore other treatments to improve obstetrical outcome. Two clinical...

  13. TAFRO Syndrome.

    Science.gov (United States)

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. What Is the Diet for PKU?

    Science.gov (United States)

    ... and carefully measured amounts of fruits, vegetables, bread, pasta, and cereals. Many people who follow a low ... food pattern eat special low protein breads and pastas. They are nearly free of phe, allow greater ...

  15. PKU-RBRC Workshop on Transverse Spin

    Energy Technology Data Exchange (ETDEWEB)

    Avakian,H.; Bunce, G.; Yuan, F.

    2008-06-30

    Understanding the structure of the nucleon is a fundamental question in subatomic physics, and it has been under intensive investigation for the last several years. Modern research focuses in particular on the spin structure of the nucleon. Experimental and theoretical investigations worldwide over the last few decades have established that, contrary to nave quark model expectations, quarks carry only about 30% of the totd spin of the proton. The origin of the remaining spin is the key question in current hadronic physics and also the major driving forces for the current and future experiments, such as RHIC and CEBAF in US, JPARC in Japan, COMPASS at CERN in Europe, FAIR at GSI in Germany. Among these studies, the transverse-spin physics develops actively and rapidly in the last few years. Recent studies reveal that transverse-spin physics is closely related to many fundamental properties of the QCD dynamics such as the factorization, the non-trivial universality of the parton distribution and fragmentation functions. It was very timely to bring together the theorists and experimentalists in this field at this workshop to review and discuss the latest developments and future perspective in hadronic spin physics. This workshop was very success iu many aspects. First of all, it attracted almost every expert working in this field. We had more than eighty participants in total, among them 27 came from the US institutes, 13 from Europe, 3 from Korea, and 2 from Japan. The rest participants came from local institutes in China. Second, we arranged plenty physics presentations, and the program covers all recent progresses made in the last few years. In total, we had 47 physics presentations, and two round table discussions. The discussion sessions were especially very useful and very much appreciated by all participants. In addition, we also scheduled plenty time for discussion in each presentation, and the living discussions impressed and benefited all participants.

  16. A Current Look at Phenylketonuria (PKU).

    Science.gov (United States)

    Fischer, Margaret

    Research was reviewed on the current status of phenylketonuria, an hereditary amino acid metabolic disorder that can cause severe mental retardation, physical complications, and emotional difficulties if not detected and treated early in childhood. A majority of the research cited was published in the 1960's. Topics covered were: discovery of…

  17. What Are Common Symptoms of Phenylketonuria (PKU)?

    Science.gov (United States)

    ... of Legislation and Public Policy (OLPP) Office of Science Policy, Reporting, and Program Analysis (OSPRA) Division of Extramural Research (DER) Extramural Scientific Branches Grants Management Branch (GMB) Office of Committee Management ( ...

  18. What Are Common Treatments for Phenylketonuria (PKU)?

    Science.gov (United States)

    ... of Legislation and Public Policy (OLPP) Office of Science Policy, Reporting, and Program Analysis (OSPRA) Division of Extramural Research (DER) Extramural Scientific Branches Grants Management Branch (GMB) Office of Committee Management ( ...

  19. Clinicolaboratory profile of phenylketonuria (PKU) in Sohag ...

    African Journals Online (AJOL)

    Abdelrahim A. Sadek

    2013-05-29

    May 29, 2013 ... In the untreated classic case, mental retardation is severe, pre- cluding speech ... genetic disorder characterized by a mutation in the gene for the hepatic ..... [11] Gross PT, Berlow S, Schuett VE, Fariello RG. EEG in phenyl-.

  20. Epidemiologic view of phenylketonuria (PKU in Latinamerica

    Directory of Open Access Journals (Sweden)

    Gustavo JC Borrajo

    2014-07-01

    Phenylketonuria newborn screening programs vary among different Latin American countries; each one has its own history; quality standards, newborn population covered and the mandatory legislation of newborn screening. Epidemiological knowledge on phenylketonuria of this region is imprecise due to the lack of national statistic registries, thus avoiding an objective assessment of population coverage and disease incidence; therefore available data is obtained from isolated observations. Analysis of phenylketonuria and hyperphenylalaninemia based on available information of several Latin American newborn screening programs shows mean incidence values of 1: 23,518 and 1: 20,759 respectively; however, individual analysis of incidence by country indicates that phenylketonuria ranges between 1:12,473 and 1:161,748 live newborns.

  1. Dramatic Increases in Maternal Opioid Use and Neonatal Abstinence Syndrome

    Science.gov (United States)

    ... Alcohol Club Drugs Cocaine Fentanyl Hallucinogens Inhalants Heroin Marijuana MDMA (Ecstasy/Molly) Methamphetamine Opioids Over-the-Counter Medicines Prescription Medicines Steroids (Anabolic) Synthetic Cannabinoids (K2/Spice) Synthetic Cathinones (Bath Salts) Tobacco/ ...

  2. Reverse innovation in maternal health.

    Science.gov (United States)

    Firoz, Tabassum; Makanga, Prestige Tatenda; Nathan, Hannah L; Payne, Beth; Magee, Laura A

    2017-09-01

    Reverse innovation, defined as the flow of ideas from low- to high-income settings, is gaining traction in healthcare. With an increasing focus on value, investing in low-cost but effective and innovative solutions can be of mutual benefit to both high- and low-income countries. Reverse innovation has a role in addressing maternal health challenges in high-income countries by harnessing these innovative solutions for vulnerable populations especially in rural and remote regions. In this paper, we present three examples of 'reverse innovation' for maternal health: a low-cost, easy-to-use blood pressure device (CRADLE), a diagnostic algorithm (mini PIERS) and accompanying mobile app (PIERS on the Move), and a novel method for mapping maternal outcomes (MOM).

  3. Classification differences and maternal mortality

    DEFF Research Database (Denmark)

    Salanave, B; Bouvier-Colle, M H; Varnoux, N

    1999-01-01

    OBJECTIVES: To compare the ways maternal deaths are classified in national statistical offices in Europe and to evaluate the ways classification affects published rates. METHODS: Data on pregnancy-associated deaths were collected in 13 European countries. Cases were classified by a European panel....... This change was substantial in three countries (P statistical offices appeared to attribute fewer deaths to obstetric causes. In the other countries, no differences were detected. According to official published data, the aggregated maternal mortality rate for participating countries was 7.7 per...... of experts into obstetric or non-obstetric causes. An ICD-9 code (International Classification of Diseases) was attributed to each case. These were compared to the codes given in each country. Correction indices were calculated, giving new estimates of maternal mortality rates. SUBJECTS: There were...

  4. Maternal employment and birth outcomes

    DEFF Research Database (Denmark)

    Wüst, Miriam

    selection of mothers between pregnancies drives the results, I focus on mothers whose change in employment status is likely not to be driven by underlying health (unemployed mothers and students). Given generous welfare bene ts and strict workplace regulations in Denmark, my findings support a residual......I use Danish survey and administrative data to examine the impact of maternal employment during pregnancy on birth outcomes. As healthier mothers are more likely to work and health shocks to mothers may impact employment and birth outcomes, I combine two strategies: First, I control extensively...... for time-varying factors that may correlate with employment and birth outcomes, such as pre-pregnancy family income and maternal occupation, pregnancy-related health shocks, maternal sick listing, and health behaviors (smoking and alcohol consumption). Second, to account for remaining time...

  5. Pregnancy outcome in joint hypermobility syndrome and Ehlers-Danlos syndrome.

    Science.gov (United States)

    Sundelin, Heléne E K; Stephansson, Olof; Johansson, Kari; Ludvigsson, Jonas F

    2017-01-01

    An increased risk of preterm birth in women with joint hypermobility syndrome or Ehlers-Danlos syndrome is suspected. In this nationwide cohort study from 1997 through 2011, women with either joint hypermobility syndrome or Ehlers-Danlos syndrome or both disorders were identified through the Swedish Patient Register, and linked to the Medical Birth Register. Thereby, 314 singleton births to women with joint hypermobility syndrome/Ehlers-Danlos syndrome before delivery were identified. These births were compared with 1 247 864 singleton births to women without a diagnosis of joint hypermobility syndrome/Ehlers-Danlos syndrome. We used logistic regression, adjusted for maternal age, smoking, parity, and year of birth, to calculate adjusted odds ratios for adverse pregnancy outcomes. Maternal joint hypermobility syndrome/Ehlers-Danlos syndrome was not associated with any of our outcomes: preterm birth (adjusted odds ratio = 0.6, 95% confidence interval 0.3-1.2), preterm premature rupture of membranes (adjusted odds ratio = 0.8; 95% confidence interval 0.3-2.2), cesarean section (adjusted odds ratio = 0.9, 95% confidence interval 0.7-1.2), stillbirth (adjusted odds ratio = 1.1, 95% confidence interval 0.2-7.9), low Apgar score (adjusted odds ratio = 1.6, 95% confidence interval 0.7-3.6), small for gestational age (adjusted odds ratio = 0.9, 95% confidence interval 0.4-1.8) or large for gestational age (adjusted odds ratio = 1.2, 95% confidence interval 0.6-2.1). Examining only women with Ehlers-Danlos syndrome (n = 62), we found a higher risk of induction of labor (adjusted odds ratio = 2.6; 95% confidence interval 1.4-4.6) and amniotomy (adjusted odds ratio = 3.8; 95% confidence interval 2.0-7.1). No excess risks for adverse pregnancy outcome were seen in joint hypermobility syndrome. Women with joint hypermobility syndrome/Ehlers-Danlos syndrome do not seem to be at increased risk of adverse pregnancy outcome. © 2016 Nordic Federation of

  6. Congenital heart disease linked to maternal autoimmunity against cardiac myosin.

    Science.gov (United States)

    Cole, Charles R; Yutzey, Katherine E; Brar, Anoop K; Goessling, Lisa S; Van Vickle-Chavez, Sarah J; Cunningham, Madeleine W; Eghtesady, Pirooz

    2014-05-01

    Structural congenital heart disease (CHD) has not previously been linked to autoimmunity. In our study, we developed an autoimmune model of structural CHD that resembles hypoplastic left heart syndrome (HLHS), a life-threatening CHD primarily affecting the left ventricle. Because cardiac myosin (CM) is a dominant autoantigen in autoimmune heart disease, we hypothesized that immunization with CM might lead to transplacental passage of maternal autoantibodies and a prenatal HLHS phenotype in exposed fetuses. Elevated anti-CM autoantibodies in maternal and fetal sera, as well as IgG reactivity in fetal myocardium, were correlated with structural CHD that included diminished left ventricular cavity dimensions in the affected progeny. Further, fetuses that developed a marked HLHS phenotype had elevated serum titers of anti-β-adrenergic receptor Abs, as well as increased protein kinase A activity, suggesting a potential mechanism for the observed pathological changes. Our maternal-fetal model presents a new concept linking autoimmunity against CM and cardiomyocyte proliferation with cardinal features of HLHS. To our knowledge, this report shows the first evidence in support of a novel immune-mediated mechanism for pathogenesis of structural CHD that may have implications in its future diagnosis and treatment.

  7. [Pregnancy in patients with renal transplantation: maternal and fetal morbidity].

    Science.gov (United States)

    Romero Arauz, Juan Fernando; Ayala Méndez, José Antonio; Jiménez Solís, Guillermo

    2008-11-01

    Preeclampsia is a multisystemic syndrome with unknown etiology and characterized by abnormal vascular placentation response. Patients with renal transplantation restore them fertility 10 months after the intervention. To evaluate incidence of preeclampsia and maternal-perinatal outcome in patients with renal transplantation. Comparative, observational and retrospective study performed in pregnant patients with renal transplantation, from December 1999 to April 2008 at Perinatology of Hypertensive Diseases Department of the Unidad Medica de Alta Especialidad de Ginecoobstetricia Luis Castelazo Ayala, IMSS. Davison' guide, descriptive statistic, and Fischer exact test were used. Thirty patients were analyzed, 27 cases satisfy Davison's recommended guidelines, and the rest did not achieve these criteria (p = 0.001). Preeclampsia occurred in 15 cases (50%), preterm delivery in 15 (50%), and fetal growth restriction in 6 (20%). Among the 11 patients with previous chronic hypertension, 8 developed superimposed preeclampsia (72%), and 9 had delivery before 37 weeks of gestation (82%). Malfunction of renal transplantation, before pregnancy, was associated with maternal and perinatal poor outcome (p = 0.006). There were no maternal deaths, but one perinatal (3%) Successful pregnancy is possible in patients with renal transplantation, however there is a high risk of preeclampsia, infection, and fetal growth restriction. Patients with renal transplantation must fulfill Davison's pre-pregnancy guidelines.

  8. Developmental programming in response to maternal over-nutrition

    Directory of Open Access Journals (Sweden)

    Maria eAlfaradhi

    2011-06-01

    Full Text Available Metabolic disorders have seen an increased prevalence in recent years in developed as well as developing countries. While it is clear lifestyle choices and habits have contributed to this epidemic, mounting evidence suggests the nutritional milieu during critical stages of development in early life can ‘program’ individuals to develop the metabolic syndrome later in life. Extensive epidemiological data presents an association between maternal obesity and nutrition during pregnancy and offspring obesity, and a number of animal models have been established in order to uncover the underlying mechanisms contributing to the programming of physiological systems. It is hard to distinguish the causal factors due to the complex nature of the maternal-fetal relationship; however, in order to develop adequate prevention strategies it is vital to identify which maternal factor(s – be it the diet, diet-induced obesity or weight gain – and at which time during early development instigate the programmed phenotype. Curtailing the onset of obesity at this early stage in life presents a promising avenue through which to stem the growing epidemic of obesity.

  9. Maternal Depression and Youth Internalizing and Externalizing Symptomatology: Severity and Chronicity of Past Maternal Depression and Current Maternal Depressive Symptoms

    Science.gov (United States)

    O’Connor, Erin E.; Langer, David A.; Tompson, Martha C.

    2017-01-01

    Maternal depression is a well-documented risk factor for youth depression, and taking into account its severity and chronicity may provide important insight into the degree of risk conferred. This study explored the degree to which the severity/chronicity of maternal depression history explained variance in youth internalizing and externalizing symptoms above and beyond current maternal depressive symptoms among 171 youth (58% male) ages 8 to 12 over a span of three years. Severity and chronicity of past maternal depression and current maternal depressive symptoms were examined as predictors of parent-reported youth internalizing and externalizing symptomatology, as well as youth self-reported depressive symptoms. Severity and chronicity of past maternal depression did not account for additional variance in youth internalizing and externalizing symptoms at Time 1 beyond what was accounted for by maternal depressive symptoms at Time 1. Longitudinal growth curve modeling indicated that prior severity/chronicity of maternal depression predicted levels of youth internalizing and externalizing symptoms at each time point when controlling for current maternal depressive symptoms at each time point. Chronicity of maternal depression, apart from severity, also predicted rate of change in youth externalizing symptoms over time. These findings highlight the importance of screening and assessing for current maternal depressive symptoms, as well as the nature of past depressive episodes. Possible mechanisms underlying the association between severity/chronicity of maternal depression and youth outcomes, such as residual effects from depressive history on mother–child interactions, are discussed. PMID:27401880

  10. Maternal Mortality – A Challenge?

    Directory of Open Access Journals (Sweden)

    Shital G. Sonone

    2013-01-01

    Full Text Available Background : The current maternal mortality rate (MMR in Maharashtra is 104/100000 live births, ranking 3rd in India. There is scope for reducing it as majority of the causes of MMR are preventable and curable. Aims and Objectives: To study the sociodemographic profile and causes of maternal deaths at Dr. V. M. Govt. Medical College, Solapur. Material and Methods: The study population included all deliveries i.e. women admitted in the hospital during pregnancy, child-birth or within 42 days of termination of pregnancy from any cause related to or aggravated due to pregnancy during the period of 2 years from 1st August 2009 to 31st July 2011. IPD case records and autopsy reports of all maternal deaths were taken and various variables were studied. The present study is prospective study of maternal mortality conducted in Dept. of Obstetrics and Gynaecology, Dr. V. M. Medical College Solapur. Cases were distributed ac-cording to their age, literacy rate, residence,socioeconomic status, ante-natal care, gestational age, gravida/parity, place of referral, pregnancy outcome, and place of delivery, perinatal outcome and etiological factors. This study also suggests the measures to reduce maternal mortality. Results: The total number of live births during the study period were 13,188 and total number of maternal deaths were 63 and MMR was 477 per 1, 00,000 live births. In the maternal deaths studied, 1/3rd of the women were illiterate, half of the women belonged to urban slum areas and of lower socioeconomic class.1/3rd of the deaths occurred in primigravida,within 24 hrs from admission, 58.73% of the patients were referred from outside. Out of that 86.49% of women were sent from private hospital and died in post partum period, having poor perinatal outcome. Haemorrhage (28.57% and hypertension (12.69% are two direct causes and severe anemia (33.33% is most common in direct cause of maternal death in our study.

  11. Modeling Family Dynamics in Children with Fragile X Syndrome

    Science.gov (United States)

    Hall, Scott S.; Burns, David D.; Reiss, Allan L.

    2007-01-01

    Few studies have examined the impact of children with genetic disorders and their unaffected siblings on family functioning. In this study, the reciprocal causal links between problem behaviors and maternal distress were investigated in 150 families containing a child with fragile X syndrome (FXS) and an unaffected sibling. Both children's…

  12. Congenital varicella syndrome in a monochorionic diamniotic twin pregnancy

    Directory of Open Access Journals (Sweden)

    Vania A Villota

    2014-01-01

    Full Text Available Congenital varicella syndrome encompasses a broad spectrum of malformations present in children of mothers who developed chickenpox during the first 20 weeks of gestation. We report a case of a monochorionic diamniotic twin pregnancy, with maternal exposure to chickenpox during the thirteenth week of gestation, which produced one symptomatic and one healthy child.

  13. Congenital varicella syndrome in a monochorionic diamniotic twin pregnancy.

    Science.gov (United States)

    Villota, Vania A; Delgado, Julián; Pachajoa, Harry

    2014-05-01

    Congenital varicella syndrome encompasses a broad spectrum of malformations present in children of mothers who developed chickenpox during the first 20 weeks of gestation. We report a case of a monochorionic diamniotic twin pregnancy, with maternal exposure to chickenpox during the thirteenth week of gestation, which produced one symptomatic and one healthy child.

  14. Epigenotype-phenotype correlations in Silver-Russell syndrome

    NARCIS (Netherlands)

    Wakeling, E. L.; Amero, S. Abu; Alders, M.; Bliek, J.; Forsythe, E.; Kumar, S.; Lim, D. H.; Macdonald, F.; Mackay, D. J.; Maher, E. R.; Moore, G. E.; Poole, R. L.; Price, S. M.; Tangeraas, T.; Turner, C. L. S.; van Haelst, M. M.; Willoughby, C.; Temple, I. K.; Cobben, J. M.

    2010-01-01

    Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry. Maternal uniparental disomy (mUPD) of chromosome 7 and hypomethylation of the imprinting control region (ICR) 1 on chromosome 11p15 are

  15. Down Syndrome Temperament: The Stereotype at Middle Childhood and Adolescence.

    Science.gov (United States)

    Gunn, Pat; Cuskelly, Monica

    1991-01-01

    Behavioral ratings by mothers and teachers of 94 children with Down's Syndrome (between 8 and 14 years of age) indicated general support for the amiable personality stereotype, but ratings of low persistence were associated with maternal impressions of difficulty. There was little agreement between mothers and teachers regarding individual child…

  16. Parenting Young Children with and without Fragile X Syndrome

    Science.gov (United States)

    Sterling, Audra; Barnum, Leah; Skinner, Debra; Warren, Steven F.; Fleming, Kandace

    2012-01-01

    The purpose of this study was to examine maternal parenting styles across age-matched siblings using a within-family design, in which one child has Fragile X syndrome. Thirteen families participated; children were aged 16 to 71 months. Mothers completed several videotaped activities with each child separately as well as an interview. Mothers used…

  17. Birthing Centers and Hospital Maternity Services

    Science.gov (United States)

    ... Educators Search English Español Birthing Centers and Hospital Maternity Services KidsHealth / For Parents / Birthing Centers and Hospital Maternity Services What's in this article? Giving Birth at ...

  18. Maternal death and near miss measurement

    African Journals Online (AJOL)

    ABEOLUGBENGAS

    2008-05-26

    May 26, 2008 ... Maternal health services need to be accountable more than ever ... of maternal death and near miss audit, surveillance and review is ..... (d) A fundamental principle of these ..... quality assurance in obstetrics in Nigeria - a.

  19. Maternal postpartum distress and childhood overweight

    DEFF Research Database (Denmark)

    Adeltoft, Teresa Ajslev; Andersen, Camilla S; Ingstrup, Katja Glejsted

    2010-01-01

    We investigated associations between maternal postpartum distress covering anxiety, depression and stress and childhood overweight.......We investigated associations between maternal postpartum distress covering anxiety, depression and stress and childhood overweight....

  20. Negotiating Rights : Building Coalitions for Improving Maternal ...

    International Development Research Centre (IDRC) Digital Library (Canada)

    Negotiating Rights : Building Coalitions for Improving Maternal Health Services ... the state of maternal health in the country reflects poorly on public health priorities. ... A number of international agencies and civil society organizations are ...

  1. Maternity waiting homes: A panacea for maternal/neonatal ...

    African Journals Online (AJOL)

    women to inadequately equipped delivery settings 4,5. Eritrea has made some ... Maternity waiting homes were introduced in Eritrea in 2007 as a strategy to mitigate .... 24(4):472-8. 5. Chandramohan D, Cutts F, Millard P The effect of stay in.

  2. Maternal-fetal cholesterol transport in the second half ofmouse pregnancy does not involve LDL receptor-related protein 2

    NARCIS (Netherlands)

    Zwier, Mathijs V; Baardman, Maria E; van Dijk, Theo H; Jurdzinski, Angelika; Wisse, Lambertus J; Bloks, Vincent W; Berger, Rolf M F; DeRuiter, Marco C; Groen, Albert K; Plösch, Torsten

    AimLDL receptor-related protein type 2 (LRP2) is highly expressed on both yolk sac and placenta. Mutations in the corresponding gene are associated with severe birth defects in humans, known as Donnai-Barrow syndrome. We here characterized the contribution of LRP2 and maternal plasma cholesterol

  3. Preeclampsia complicated by advanced maternal age: a registry-based study on primiparous women in Finland 1997–2008

    Directory of Open Access Journals (Sweden)

    Lamminpää Reeta

    2012-06-01

    Full Text Available Abstract Background Preeclampsia is a frequent syndrome and its cause has been linked to multiple factors, making prevention of the syndrome a continuous challenge. One of the suggested risk factors for preeclampsia is advanced maternal age. In the Western countries, maternal age at first delivery has been steadily increasing, yet few studies have examined women of advanced maternal age with preeclampsia. The purpose of this registry-based study was to compare the obstetric outcomes in primiparous and preeclamptic women younger and older than 35 years. Methods The registry-based study used data from three Finnish health registries: Finnish Medical Birth Register, Finnish Hospital Discharge Register and Register of Congenital Malformations. The sample contained women under 35 years of age (N = 15,437 compared with those 35 and over (N = 2,387 who were diagnosed with preeclampsia and had their first singleton birth in Finland between 1997 and 2008. In multivariate modeling, the main outcome measures were Preterm delivery (before 34 and 37 weeks, low Apgar score (5 min., small-for-gestational-age, fetal death, asphyxia, Cesarean delivery, induction, blood transfusion and admission to a Neonatal Intensive Care Unit. Results Women of advanced maternal age (AMA exhibited more preeclampsia (9.4% than younger women (6.4%. They had more prior terminations (25 ( Conclusions Preeclampsia is more common in women with advanced maternal age. Advanced maternal age is an independent risk factor for adverse outcomes in first-time mothers with preeclampsia.

  4. Effects of maternal confidence and competence on maternal parenting stress in newborn care.

    Science.gov (United States)

    Liu, Chien-Chi; Chen, Yueh-Chih; Yeh, Yen-Po; Hsieh, Yeu-Sheng

    2012-04-01

    This paper is a report of a correlational study of the relations of maternal confidence and maternal competence to maternal parenting stress during newborn care. Maternal role development is a cognitive and social process influenced by cultural and family contexts and mother and child characteristics. Most knowledge about maternal role development comes from western society. However, perceptions of the maternal role in contemporary Taiwanese society may be affected by contextual and environmental factors. A prospective correlational design was used to recruit 372 postpartum Taiwanese women and their infants from well-child clinics at 16 health centres in central Taiwan. Inclusion criteria for mothers were gestational age >37 weeks, ≥18 years old, and healthy, with infants maternal confidence, maternal competence and self-perceived maternal parenting stress. After controlling for maternal parity and infant temperament, high maternal confidence and competence were associated with low maternal parenting stress. Maternal confidence influenced maternal parenting stress both directly and indirectly via maternal competence. To assist postpartum women in infant care programmes achieve positive outcomes, nurses should evaluate and bolster mothers' belief in their own abilities. Likewise, nurses should not only consider mothers' infant care skills, but also mothers' parity and infant temperament. Finally, it is crucial for nurses and researchers to recognize that infant care programmes should be tailored to mothers' specific maternal characteristics. © 2011 The Authors. Journal of Advanced Nursing © 2011 Blackwell Publishing Ltd.

  5. Maternal mortality and severe maternal morbidity from acute fatty liver of pregnancy in the Netherlands

    NARCIS (Netherlands)

    Dekker, Ruth R.; Schutte, Joke M.; Stekelenburg, Jelle; Zwart, Joost J.; van Roosmalen, Jos

    Objective: To assess maternal death and severe maternal morbidity from acute fatty liver of pregnancy (AFLP) in the Netherlands. Study design: A retrospective study of all cases of maternal mortality in the Netherlands between 1983 and 2006 and all cases of severe maternal morbidity in the

  6. Goldenhar syndrome

    Directory of Open Access Journals (Sweden)

    Neeraj Sharma

    2013-01-01

    Full Text Available Goldenhar syndrome is a syndrome of complex structures developing from first and second branchial arches during blastogenesis. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. The disorder is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Here we present a unique case of Goldenhar syndrome with absence of left condyle, hypoplasia of the zygomatic bone, no pneumatization of the mastoid process, underdeveloped mandible, bifid tongue and the skin tags in the preauricular area.

  7. Cowden syndrome

    Directory of Open Access Journals (Sweden)

    Ravi Prakash S

    2010-01-01

    Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

  8. Costello syndrome

    Directory of Open Access Journals (Sweden)

    Madhukara J

    2007-01-01

    Full Text Available Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to normal nonconsanguineous parents presented to us with abnormal facial features, arrhythmia, mitral valve dysfunction and growth retardation. His cutaneous examination revealed lax and pigmented skin over hands and feet with deep creases, acanthosis nigricans and short curly hairs. Its differentiation from other syndromes with similar clinical features is discussed in this article.

  9. Problems of contemporary maternity: psychological aspect

    Directory of Open Access Journals (Sweden)

    I. V. Puz

    2013-08-01

    Full Text Available This article deals with the problems of modern motherhood and studies the phenomenon of deviant maternal behavior. Based on the literature, present study analyzes such forms of violation of maternal behavior as mother's refusal from a baby; mother's cruel treatment of a baby; frequent abortions; maternity in the early reproductive age; conscious maternity postponement for a later reproductive age. Also the factors that contribute to various manifestations of deviant motherhood are described.

  10. [Maternal and perinatal health].

    Science.gov (United States)

    1991-01-01

    After a year-long diagnosis of Chile's health situation, the Ministry of Health in 1991 formulated a new maternal-child health program designed to assure that all pregnancies would be desired and would occur under optimal conditions. Orientation for responsible parenthood will be an important part of the process. Other objectives include reducing the incidence of adolescent pregnancy and of sexually transmitted diseases. The pregnancy rate for young women 15-19 changed very little in Chile between 1952-82, because of the lack of sex education and family planning services. Family planning programs designed especially for adolescents would help to combat unwanted pregnancies and could offer the methods most suitable for young women. The well-known longitudinal study in Czechoslovakia which followed the development of children whose mothers were denied legal abortions in the 1960s showed the children to be at increased risk of unsatisfactory social adjustment in later life and suggested some consequences of unwanted pregnancy. A study of unwanted pregnancy in Chile was initiated in 4 prenatal care centers in a working class area of Santiago in 1984. 2485 women in the 6th or 7th month of pregnancy were classified according to their existing family sizes. Only 33.1% of the women desired the pregnancy at that time and 38.4% desired it but at a later time. 28.5% did not desire it at all. Women who did not desire the pregnancy waited significantly longer to obtain prenatal care than women who desired it. Age, economic problems, being single, family conflicts, already having the desired number of children, and short intervals since the most recent birth were associated with not desiring the current pregnancy. Of the 1663 women who did not desire the pregnancy, only 13.1% of those single, 35.8% of those in union, and 44.0% of those married used a contraceptive method. 2133 of the mothers were interviewed 6 months and 1977 12 months after delivery. Birth weights did not vary

  11. Antenatal Bartter Syndrome: A Review

    Directory of Open Access Journals (Sweden)

    Y. Ramesh Bhat

    2012-01-01

    Full Text Available Antenatal Bartter syndrome (ABS is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the loop of Henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. Early onset, unexplained maternal polyhydramnios often challenges the treating obstetrician. Increasing polyhydramnios without apparent fetal or placental abnormalities should lead to the suspicion of this entity. Biochemical analysis of amniotic fluid is suggested as elevated chloride level is usually diagnostic. Awareness, early recognition, maternal treatment with indomethacin, and amniocentesis allow the pregnancy to continue. Affected neonates are usually born premature, have postnatal polyuria, vomiting, failure to thrive, hypercalciuria, and subsequently nephrocalcinosis. Hypokalemia, metabolic alkalosis, secondary hyperaldosteronism and hyperreninaemia are other characteristic features. Volume depletion due to excessive salt and water loss on long term stimulates renin-angiotensin-aldosterone system resulting in juxtaglomerular hyperplasia. Clinical features and electrolyte abnormalities may also depend on the subtype of the syndrome. Prenatal diagnosis and timely indomethacin administration prevent electrolyte imbalance, restitute normal growth, and improve activity. In this paper, authors present classification, pathophysiology, clinical manifestations, laboratory findings, complications, and prognosis of ABS.

  12. Antenatal Bartter Syndrome: A Review

    Science.gov (United States)

    Bhat, Y. Ramesh; Vinayaka, G.; Sreelakshmi, K.

    2012-01-01

    Antenatal Bartter syndrome (ABS) is a rare autosomal recessive renal tubular disorder. The defective chloride transport in the loop of Henle leads to fetal polyuria resulting in severe hydramnios and premature delivery. Early onset, unexplained maternal polyhydramnios often challenges the treating obstetrician. Increasing polyhydramnios without apparent fetal or placental abnormalities should lead to the suspicion of this entity. Biochemical analysis of amniotic fluid is suggested as elevated chloride level is usually diagnostic. Awareness, early recognition, maternal treatment with indomethacin, and amniocentesis allow the pregnancy to continue. Affected neonates are usually born premature, have postnatal polyuria, vomiting, failure to thrive, hypercalciuria, and subsequently nephrocalcinosis. Hypokalemia, metabolic alkalosis, secondary hyperaldosteronism and hyperreninaemia are other characteristic features. Volume depletion due to excessive salt and water loss on long term stimulates renin-angiotensin-aldosterone system resulting in juxtaglomerular hyperplasia. Clinical features and electrolyte abnormalities may also depend on the subtype of the syndrome. Prenatal diagnosis and timely indomethacin administration prevent electrolyte imbalance, restitute normal growth, and improve activity. In this paper, authors present classification, pathophysiology, clinical manifestations, laboratory findings, complications, and prognosis of ABS. PMID:22518185

  13. Maternal inflammation during pregnancy and childhood adiposity

    NARCIS (Netherlands)

    R. Gaillard (Romy); S.L. Rifas-Shiman (Sheryl); W. Perng (Wei); E. Oken (Emily); M.W. Gillman (Matthew W.)

    2016-01-01

    textabstractObjective: Maternal pre-pregnancy obesity is associated with offspring obesity. Underlying mechanisms may involve a maternal obesity-mediated proinflammatory state during pregnancy. Maternal C-reactive protein (CRP) level during pregnancy is a biomarker of low-grade systemic

  14. Epidemiology of Maternal Mortality in Malawi

    African Journals Online (AJOL)

    live births. Causes and determinants of maternal mortal- ity. Global causes of maternal mortality. Across the globe the causes of maternal deaths are strik- ..... at home”. Findings from Thyolo, Mangochi and Chik- wawa were similar". Perceived qua/ity of care. Like anywhere in the world, the perceived quality of care in ...

  15. Prenatal Maternal Stress Programs Infant Stress Regulation

    Science.gov (United States)

    Davis, Elysia Poggi; Glynn, Laura M.; Waffarn, Feizal; Sandman, Curt A.

    2011-01-01

    Objective: Prenatal exposure to inappropriate levels of glucocorticoids (GCs) and maternal stress are putative mechanisms for the fetal programming of later health outcomes. The current investigation examined the influence of prenatal maternal cortisol and maternal psychosocial stress on infant physiological and behavioral responses to stress.…

  16. Maternal androgen excess and obesity induce sexually dimorphic anxiety-like behavior in the offspring.

    Science.gov (United States)

    Manti, Maria; Fornes, Romina; Qi, Xiaojuan; Folmerz, Elin; Lindén Hirschberg, Angelica; de Castro Barbosa, Thais; Maliqueo, Manuel; Benrick, Anna; Stener-Victorin, Elisabet

    2018-03-22

    Maternal polycystic ovary syndrome (PCOS), a condition associated with hyperandrogenism, is suggested to increase anxiety-like behavior in the offspring. Because PCOS is closely linked to obesity, we investigated the impact of an adverse hormonal or metabolic maternal environment and offspring obesity on anxiety in the offspring. The obese PCOS phenotype was induced by chronic high-fat-high-sucrose (HFHS) consumption together with prenatal dihydrotestosterone exposure in mouse dams. Anxiety-like behavior was assessed in adult offspring with the elevated-plus maze and open-field tests. The influence of maternal androgens and maternal and offspring diet on genes implicated in anxiety were analyzed in the amygdala and hypothalamus with real-time PCR ( n = 47). Independent of diet, female offspring exposed to maternal androgens were more anxious and displayed up-regulation of adrenoceptor α 1B in the amygdala and up-regulation of hypothalamic corticotropin-releasing hormone ( Crh). By contrast, male offspring exposed to a HFHS maternal diet had increased anxiety-like behavior and showed up-regulation of epigenetic markers in the amygdala and up-regulation of hypothalamic Crh. Overall, there were substantial sex differences in gene expression in the brain. These findings provide novel insight into how maternal androgens and obesity exert sex-specific effects on behavior and gene expression in the offspring of a PCOS mouse model.-Manti, M., Fornes, R., Qi, X., Folmerz, E., Lindén Hirschberg, A., de Castro Barbosa, T., Maliqueo, M., Benrick, A., Stener-Victorin, E. Maternal androgen excess and obesity induce sexually dimorphic anxiety-like behavior in the offspring.

  17. Plotting Maternity in Three Persons

    Science.gov (United States)

    Kinser, Amber E.

    2012-01-01

    This performance text examines complexities of personal and maternal identity in family life. Speaking in first, second, and third person voices, the author offers autoethnographic accounts of the tensions between separateness and connectedness, normative and subjective motherhood, and novice and seasoned perspectives. The piece functions as a…

  18. Intergenerational Attitudes toward Maternal Employment.

    Science.gov (United States)

    Heaven, Catherine P.; McCluskey-Fawcett, Kathleen

    Intergenerational attitudes toward child care were examined among college-age students and their parents through the use of questionnaires, the Beliefs About the Consequences of Maternal Employment Scale (BACMEC), and the Bias in Attitudes toward Women Scale (BIAS). Findings indicated that traditional attitudes were more prevalent in males of both…

  19. Multigenerational effects of maternal undernutrition

    Science.gov (United States)

    Einstein, Francine H.

    2014-01-01

    Intrauterine exposure to reduced nutrient availability can have major effects in determining susceptibility to chronic disease later in life. Martínez et al. (2014) demonstrate multigenerational effects of poor maternal nutrition and evidence of germ-line transmission through alterations in DNA methylation. PMID:24896533

  20. Reye Syndrome

    Science.gov (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now What Is Reye’s Syndrome? ...

  1. Alagille Syndrome

    Science.gov (United States)

    ... Legacy Society Make Gifts of Stock Donate Your Car Personal Fundraising Partnership & Support Share Your Story Spread the Word Give While You Shop Contact Us Donate Now Alagille Syndrome Back Alagille ...

  2. Turner Syndrome

    Science.gov (United States)

    ... Failure to begin sexual changes expected during puberty Sexual development that "stalls" during teenage years Early end to menstrual cycles not due to pregnancy For most women with Turner syndrome, inability to ...

  3. [Refeeding syndrome].

    Science.gov (United States)

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  4. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  5. Alagille Syndrome

    Science.gov (United States)

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  6. Reye Syndrome

    Science.gov (United States)

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  7. Turner Syndrome

    Science.gov (United States)

    ... crowding, and osteoporosis (brittle bones). Because of their physical conditions, health concerns, and infertility, some girls and women with TS may have low self- esteem, anxiety, or depression. How is Turner syndrome diagnosed? Physical features may ...

  8. Cushing's Syndrome

    Science.gov (United States)

    ... person cured of Cushing’s syndrome might have some memory loss and slight mental decline. But the change is ... Categories: Family Health, Infants and Toddlers, Kids and Teens, Men, Seniors, WomenTags: acth, adenomas, hormone, sickness September ...

  9. Levator Syndrome

    Science.gov (United States)

    ... Abscess Anorectal Fistula Foreign Objects in the Rectum Hemorrhoids Levator Syndrome Pilonidal Disease Proctitis Rectal Prolapse (See ... out other painful rectal conditions (such as thrombosed hemorrhoids , fissures , or abscesses ). The physical examination is often ...

  10. Alport Syndrome

    Science.gov (United States)

    ... signs and symptoms may differ, based on age, gender and inherited type of Alport syndrome. For example, ... prevention and treatment of kidney disease. The Better Business Bureau Wise Giving Alliance Charity Seal provides the ...

  11. Gilbert's Syndrome

    Science.gov (United States)

    ... not know you have the condition until it's discovered by accident, such as when a blood test ... chemotherapy drug Some protease inhibitors used to treat HIV If you have Gilbert's syndrome, talk to your ...

  12. Potter syndrome

    Science.gov (United States)

    Potter phenotype ... In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is ... kidneys normally produce the amniotic fluid (as urine). Potter phenotype refers to a typical facial appearance that ...

  13. Moebius Syndrome

    Science.gov (United States)

    ... delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are unable to move their eyes back and forth. Decreased numbers of muscle fibers have been reported. Deformities of the tongue, jaw, and limbs, such ...

  14. Fraser syndrome

    DEFF Research Database (Denmark)

    Barisic, Ingeborg; Odak, Ljubica; Loane, Maria

    2013-01-01

    Fraser syndrome is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal, and urogenital malformations. We present a population-based epidemiological study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network of...

  15. Angelman Syndrome

    Science.gov (United States)

    ... therapy for seizures is usually necessary. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential. × Treatment There ...

  16. Joubert Syndrome

    Science.gov (United States)

    ... CEP290 . View Full Definition Treatment Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing ...

  17. Zellweger Syndrome

    Science.gov (United States)

    ... swallow. Some babies will be born with glaucoma, retinal degeneration, and impaired hearing. Jaundice and gastrointestinal bleeding also may occur. Treatment There is no cure for Zellweger syndrome, nor ...

  18. Nephrotic Syndrome

    Science.gov (United States)

    ... your blood — typically with an artificial kidney machine (dialyzer). Chronic kidney disease. Nephrotic syndrome may cause your ... opportunities Reprint Permissions A single copy of these materials may be reprinted for noncommercial personal use only. " ...

  19. Ohtahara Syndrome

    Science.gov (United States)

    ... are more often affected than girls. View Full Definition Treatment Antiepileptic drugs are used to control seizures, but are unfortunately ... Other therapies are symptomatic and supportive. × ... Definition Ohtahara syndrome is a neurological disorder characterized by ...

  20. Usher Syndrome

    Science.gov (United States)

    ... to abnormal development of the vestibular hair cells, sensory cells that detect gravity and head movement. RP ... 3 Ben-Rebeh, I., et al. (2016). Genetic analysis of Tunisian families with Usher syndrome type 1: ...

  1. Genotype-Phenotype Correlation of Maternally Inherited Disorders due to Mutations in Mitochondrial DNA

    Directory of Open Access Journals (Sweden)

    Peterus Thajeb

    2006-09-01

    Full Text Available Mitochondrial disorders are heterogeneous systemic ailments that are most often caused by maternal inheritance of a variety of mutations of the mitochondrial (mt DNA. Paternal inheritance and somatic mutation are rare. The disorders are well recognized not only for the genotypic heterogeneity, but also the phenotypic variation among the affected members of a single family. The genotype-phenotype correlation of the diversity of the syndromic and non-syndromic features of mitochondrial disorders are discussed. Some aspects of the molecular mechanisms of this heterogeneity, and the histopathologic findings are highlighted.

  2. Construction of HMI Network System for Individualized Maternity Intervention Service against Birth Defects in Community

    Institute of Scientific and Technical Information of China (English)

    Xu-huai HU

    2007-01-01

    The paper expounds the community maternity service system against birth defects,from the viewpoint of individualized service in family planning. We have utilized modern information technology to develop health management information (HMI) network with individualized maternity, and to establish the community service system for intervention of birth defects. The service system applied the concept of modern health management information to implementing informational management for screening,treatment, following up, outcome monitoring, so as to provide a base for promotion of health, diagnosis, treatment as well as scientific research, with the prenatal screening of Down's syndrome as a model. The introduction to informational network during the processes of service has been carried out with regards to its composition, function and application, while introducing the effects of computerized case record individualized in prevention, management and research of Down's syndrome.

  3. Effect of maternal PCOS and PCOS-like phenotype on the offspring’s health

    Science.gov (United States)

    Puttabyatappa, Muraly; Cardoso, Rodolfo C.; Padmanabhan, Vasantha

    2015-01-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder with both reproductive and metabolic abnormalities affecting women of reproductive age. While the exact origin of PCOS is unknown, observations from clinical and animal studies suggest that maternal hyperandrogenism may be a contributing factor. Because women with PCOS manifest hyperandrogenism during pregnancy, changes in the gestational endocrine milieu may play a role in the vertical transmission of this syndrome. This review discusses the potential developmental origins of PCOS, the impact of maternal PCOS on the offspring’s health and contributions of the postnatal environment, capitalizing on findings from animal models that exhibit a PCOS-like phenotype. In addition, this review highlights the scarcity of data at early gestational stages in humans and the importance of animal experimentation to better understand the cellular and molecular mechanisms involved in the programming of adult diseases, therefore, helping identify therapeutic targets for preventive and treatment strategies. PMID:26639019

  4. Eagle's Syndrome

    OpenAIRE

    Pinheiro,Thaís Gonçalves; Soares,Vítor Yamashiro Rocha; Ferreira,Denise Bastos Lage; Raymundo,Igor Teixeira; Nascimento,Luiz Augusto; Oliveira,Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction:?Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is diffic...

  5. Barth Syndrome

    DEFF Research Database (Denmark)

    Saric, Ana; Andreau, Karine; Armand, Anne-Sophie

    2016-01-01

    Mutations in the gene encoding the enzyme tafazzin, TAZ, cause Barth syndrome (BTHS). Individuals with this X-linked multisystem disorder present cardiomyopathy (CM) (often dilated), skeletal muscle weakness, neutropenia, growth retardation, and 3-methylglutaconic aciduria. Biopsies of the heart......, liver and skeletal muscle of patients have revealed mitochondrial malformations and dysfunctions. It is the purpose of this review to summarize recent results of studies on various animal or cell models of Barth syndrome, which have characterized biochemically the strong cellular defects associated...

  6. Pendred's syndrome

    International Nuclear Information System (INIS)

    Hashmi, M.I.; Cheema, I.A.; Qasim, G.

    2003-01-01

    This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahimyar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome. (author)

  7. Maternal undernutrition and fetal developmental programming of obesity: the glucocorticoid connection.

    Science.gov (United States)

    Correia-Branco, Ana; Keating, Elisa; Martel, Fátima

    2015-02-01

    An adequate maternal nutrition during pregnancy is crucial for the health outcome of offspring in adulthood. Maternal undernutrition during critical periods of fetal development can program the fetus for metabolic syndrome (MetS) later in life, especially when postnatally challenged with a hypernutritive diet. Adipogenesis, which begins in utero and accelerates in neonatal life, is a major candidate for developmental programming. During fetal development, the hypothalamic-pituitary-adrenal (HPA) axis is extremely susceptible to programming, and the HPA tone is increased throughout life in undernourished conditions. As a consequence, an alteration in the expression and function of glucocorticoid (GC) receptors and of the major GC regulatory enzymes (11β-hydroxysteroid dehydrogenase 1 and -2) occurs. In this review, we will give insights into the role of maternoplacental adverse interactions under the specific context of maternal undernutrition, for later-in-life MetS development, with a special emphasis on the role of GCs. © The Author(s) 2014.

  8. [Poland's syndrome].

    Science.gov (United States)

    Slezak, R; Sasiadek, M

    2000-08-01

    Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

  9. Maternal serum uric acid level and maternal and neonatal complications in preeclamptic women: A cross-sectional study.

    Science.gov (United States)

    Asgharnia, Maryam; Mirblouk, Fariba; Kazemi, Soudabeh; Pourmarzi, Davood; Mahdipour Keivani, Mina; Dalil Heirati, Seyedeh Fatemeh

    2017-09-01

    Preeclampsia is associated with maternal and neonatal complications. It has been indicated that increased uric acid might have a predictive role on preeclampsia. We aimed to investigate the relationship between the level of uric acid with maternal and neonatal complications in women with preeclampsia. In this cross-sectional study, 160 singleton preeclamptic women at more than 28 wk gestational age were included. Hemoglobin, hematocrit, platelet count, liver and uric acid tests, and maternal and neonatal complications were assessed. The severity of preeclampsia, placental abruption, preterm labor, thrombocytopenia, elevated alanine aminotransferase and aspartate aminotransferase (ALT and AST), HELLP syndrome, eclampsia and required hospitalization in the ICU was considered as the maternal complication. Fetal complications were: small for gestational age (SGA), intrauterine fetal death, hospitalization in the neonatal intensive care unit, and Apgar score uric acid in women with severe preeclampsia was significantly higher than non-severe preeclampsia (p=0.031), also in those with an abnormal liver test (p=0.009). The mean level of uric acid in women with preterm delivery was significantly higher than women with term delivery (p=0.0001). Also, the level of uric acid had no effect on neonatal hospitalization in neonate invasive care unit. Based on logistic regression, the incidence of severe preeclampsia not affected by decreased or increased serum levels of uric acid. With higher level of uric acid in server preeclampsia we can expected more complications such as hepatic dysfunction and preterm delivery. Thus serum uric acid measurement can be helpful marker for severe preeclampsia.

  10. What is Metabolic Syndrome?

    Science.gov (United States)

    ... Intramural Research Home / Metabolic Syndrome Metabolic Syndrome Also known as What Is Metabolic syndrome ... metabolic risk factors to be diagnosed with metabolic syndrome. Metabolic Risk Factors A Large Waistline Having a large ...

  11. Loeys-Dietz Syndrome

    Science.gov (United States)

    ... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

  12. Milk-alkali syndrome

    Science.gov (United States)

    Calcium-alkali syndrome; Cope syndrome; Burnett syndrome; Hypercalcemia; Calcium metabolism disorder ... Milk-alkali syndrome is almost always caused by taking too many calcium supplements, usually in the form of calcium carbonate. Calcium ...

  13. Exogenous Cushing syndrome

    Science.gov (United States)

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the hormone ...

  14. Turner Syndrome: Other FAQs

    Science.gov (United States)

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  15. Angelman syndrome, cause of epilepsy in infants

    International Nuclear Information System (INIS)

    Sykora, P.; Vicenova, A.; Svecova, L.; Kolnikova, M.

    2014-01-01

    Several chromosomal syndromes include brain dysfunction symptoms as mental retardation, developmental speech disorders and epilepsy. Authors present a case report of Angelman syndrome – neuro behavioral disorder associated with deletion in the maternal chromosome 15q 11-g13 causing mutation of the UBE3A gene. The main features consist of psychomotor retardation, developmental speech disorder, ataxia, tremor, hyperactivity, clapping hands, inadequate laughter and happiness, attention deficit and epilepsy. The later starts before the 3rd year of age in form of atypical absences, myoclonic and generalized tonic-clonic seizures. EEG typically shows episodes of slow activity with sharp waves occipitally. Prognosis is poor. Genetic syndromes importantly contribute to the etiology of epilepsy with early seizures. (author)

  16. Clinical spectrum of silver - Russell syndrome

    Directory of Open Access Journals (Sweden)

    Sapna N.K. Varma

    2013-01-01

    Full Text Available Silver - Russell syndrome is a clinically and genetically heterogenous condition characterized by severe intrauterine and postnatal growth retardation, craniofacial disproportion and normal intelligence downward curvature of the corner of the mouth, syndactyly and webbed fingers. Diagnosis of Silver - Russell syndrome remains clinical; no definite etiology or specific tests have been established. In the recent years, it has been shown that more than 38% of patients have hypomethylation in the imprinting control region 1 of 11p15 and one-tenth of patients carry a maternal uniparental disomy of chromosome seven. The pathophysiological mechanisms resulting in the Silver - Russell phenotype remain unknown despite the recent progress in deciphering the molecular defects associated with this condition. This case report describes the clinical features of Silver - Russell syndrome in a father and daughter.

  17. Adiponectin supplementation in pregnant mice prevents the adverse effects of maternal obesity on placental function and fetal growth.

    Science.gov (United States)

    Aye, Irving L M H; Rosario, Fredrick J; Powell, Theresa L; Jansson, Thomas

    2015-10-13

    Mothers with obesity or gestational diabetes mellitus have low circulating levels of adiponectin (ADN) and frequently deliver large babies with increased fat mass, who are susceptible to perinatal complications and to development of metabolic syndrome later in life. It is currently unknown if the inverse correlation between maternal ADN and fetal growth reflects a cause-and-effect relationship. We tested the hypothesis that ADN supplementation in obese pregnant dams improves maternal insulin sensitivity, restores normal placental insulin/mechanistic target of rapamycin complex 1 (mTORC1) signaling and nutrient transport, and prevents fetal overgrowth. Compared with dams on a control diet, female C57BL/6J mice fed an obesogenic diet before mating and throughout gestation had increased fasting serum leptin, insulin, and C-peptide, and reduced high-molecular-weight ADN at embryonic day (E) 18.5. Placental insulin and mTORC1 signaling was activated, peroxisome proliferator-activated receptor-α (PPARα) phosphorylation was reduced, placental transport of glucose and amino acids in vivo was increased, and fetal weights were 29% higher in obese dams. Maternal ADN infusion in obese dams from E14.5 to E18.5 normalized maternal insulin sensitivity, placental insulin/mTORC1 and PPARα signaling, nutrient transport, and fetal growth without affecting maternal fat mass. Using a mouse model with striking similarities to obese pregnant women, we demonstrate that ADN functions as an endocrine link between maternal adipose tissue and fetal growth by regulating placental function. Importantly, maternal ADN supplementation reversed the adverse effects of maternal obesity on placental function and fetal growth. Improving maternal ADN levels may serve as an effective intervention strategy to prevent fetal overgrowth caused by maternal obesity.

  18. Maternal Characteristics Predicting Young Girls’ Disruptive Behavior

    Science.gov (United States)

    van der Molen, Elsa; Hipwell, Alison E.; Vermeiren, Robert; Loeber, Rolf

    2011-01-01

    Little is known about the relative predictive utility of maternal characteristics and parenting skills on the development of girls’ disruptive behavior. The current study used five waves of parent and child-report data from the ongoing Pittsburgh Girls Study to examine these relationships in a sample of 1,942 girls from age 7 to 12 years. Multivariate Generalized Estimating Equation (GEE) analyses indicated that European American race, mother’s prenatal nicotine use, maternal depression, maternal conduct problems prior to age 15, and low maternal warmth explained unique variance. Maladaptive parenting partly mediated the effects of maternal depression and maternal conduct problems. Both current and early maternal risk factors have an impact on young girls’ disruptive behavior, providing support for the timing and focus of the prevention of girls’ disruptive behavior. PMID:21391016

  19. Syndrome of arachnomelia in Simmental cattle

    Directory of Open Access Journals (Sweden)

    Weppert Myriam

    2008-10-01

    Full Text Available Abstract Background The syndrome of arachnomelia is an inherited malformation mainly of limbs, back and head in cattle. At present the arachnomelia syndrome has been well known mainly in Brown Swiss cattle. Nevertheless, the arachnomelia syndrome had been observed in the Hessian Simmental population during the decade 1964–1974. Recently, stillborn Simmental calves were observed having a morphology similar to the arachnomelia syndrome. The goal of this work was the characterization of the morphology and genealogy of the syndrome in Simmental to establish the basis for an effective management of the disease. Results The first pathologically confirmed arachnomelia syndrome-cases in the current Simmental population appeared in the year 2005. By 2007, an additional 140 calves with the arachnomelia syndrome were identified. The major pathological findings were malformed bones affecting the head, long bones of the legs and the vertebral column. It could be shown that, with the exception of two cases that were considered as phenocopies, all of the paternal and about two-third of the maternal pedigrees of the affected calves could be traced back to one common founder. Together with the data from experimental matings, the pedigree data support an autosomal recessive mutation being the etiology of the arachnomelia syndrome. The frequency of the mutation in the current population was estimated to be 3.32%. Conclusion We describe the repeated occurrence of the arachnomelia syndrome in Simmental calves. It resembles completely the same defect occurring in the Brown Swiss breed. The mutation became relatively widespread amongst the current population. Therefore, a control system has to be established and it is highly desirable to map the disease and develop a genetic test system.

  20. The evolution of multivariate maternal effects.

    Directory of Open Access Journals (Sweden)

    Bram Kuijper

    2014-04-01

    Full Text Available There is a growing interest in predicting the social and ecological contexts that favor the evolution of maternal effects. Most predictions focus, however, on maternal effects that affect only a single character, whereas the evolution of maternal effects is poorly understood in the presence of suites of interacting traits. To overcome this, we simulate the evolution of multivariate maternal effects (captured by the matrix M in a fluctuating environment. We find that the rate of environmental fluctuations has a substantial effect on the properties of M: in slowly changing environments, offspring are selected to have a multivariate phenotype roughly similar to the maternal phenotype, so that M is characterized by positive dominant eigenvalues; by contrast, rapidly changing environments favor Ms with dominant eigenvalues that are negative, as offspring favor a phenotype which substantially differs from the maternal phenotype. Moreover, when fluctuating selection on one maternal character is temporally delayed relative to selection on other traits, we find a striking pattern of cross-trait maternal effects in which maternal characters influence not only the same character in offspring, but also other offspring characters. Additionally, when selection on one character contains more stochastic noise relative to selection on other traits, large cross-trait maternal effects evolve from those maternal traits that experience the smallest amounts of noise. The presence of these cross-trait maternal effects shows that individual maternal effects cannot be studied in isolation, and that their study in a multivariate context may provide important insights about the nature of past selection. Our results call for more studies that measure multivariate maternal effects in wild populations.

  1. The evolution of multivariate maternal effects.

    Science.gov (United States)

    Kuijper, Bram; Johnstone, Rufus A; Townley, Stuart

    2014-04-01

    There is a growing interest in predicting the social and ecological contexts that favor the evolution of maternal effects. Most predictions focus, however, on maternal effects that affect only a single character, whereas the evolution of maternal effects is poorly understood in the presence of suites of interacting traits. To overcome this, we simulate the evolution of multivariate maternal effects (captured by the matrix M) in a fluctuating environment. We find that the rate of environmental fluctuations has a substantial effect on the properties of M: in slowly changing environments, offspring are selected to have a multivariate phenotype roughly similar to the maternal phenotype, so that M is characterized by positive dominant eigenvalues; by contrast, rapidly changing environments favor Ms with dominant eigenvalues that are negative, as offspring favor a phenotype which substantially differs from the maternal phenotype. Moreover, when fluctuating selection on one maternal character is temporally delayed relative to selection on other traits, we find a striking pattern of cross-trait maternal effects in which maternal characters influence not only the same character in offspring, but also other offspring characters. Additionally, when selection on one character contains more stochastic noise relative to selection on other traits, large cross-trait maternal effects evolve from those maternal traits that experience the smallest amounts of noise. The presence of these cross-trait maternal effects shows that individual maternal effects cannot be studied in isolation, and that their study in a multivariate context may provide important insights about the nature of past selection. Our results call for more studies that measure multivariate maternal effects in wild populations.

  2. Maternal and neonatal outcomes of respiratory failure during pregnancy.

    Science.gov (United States)

    Hung, Chen-Yiu; Hu, Han-Chung; Chiu, Li-Chung; Chang, Chih-Hao; Li, Li-Fu; Huang, Chung-Chi; Kao, Chuan-Chi; Cheng, Po-Jen; Kao, Kuo-Chin

    2018-05-01

    Obstetric patients comprise a limited portion of intensive care unit patients, but they often present with unfamiliar conditions and exhibit the potential for catastrophic deterioration. This study evaluated the maternal and neonatal outcomes of respiratory failure during pregnancy. Information on 71 patients at >25 weeks gestation in the ICU with respiratory failure was recorded between 2009 and 2013. The characteristics and outcomes of mothers and fetuses were determined through a retrospective chart review and evaluated using Student's t test, chi-square test, and Fisher's exact test. The leading causes of respiratory failure were postpartum hemorrhage and severe preeclampsia in the obstetric causes group and pneumonia in the nonobstetric causes group during pregnancy and the peripartum period. The non-obstetric causes group exhibited a higher incidence of acute respiratory distress syndrome and renal replacement therapy as well as requiring more ventilator days. The patients in the obstetric causes group showed significant improvement after delivery in the partial pressure of arterial oxygen to the fraction of inspired oxygen and peak inspiratory pressure decrease. Both groups exhibited high incidences of neonatal respiratory distress syndrome. Neonatal complications resulting from meconium aspiration syndrome (MAS) and sepsis were more common in the non-obstetric causes group; however, neurological development impairment was more common in the obstetric causes group. Obstetric cause was associated with longer ventilator free days and fewer episodes of ARDS after delivery. Neonatal complications resulting from different etiologies of respiratory failure were found to differ. Copyright © 2017. Published by Elsevier B.V.

  3. Maternal Emotional Availability and Its Association with Maternal Psychopathology, Attachment Style Insecurity and Theory of Mind.

    Science.gov (United States)

    Licata, Maria; Zietlow, Anna-Lena; Träuble, Birgit; Sodian, Beate; Reck, Corinna

    High maternal emotional availability (EA) positively affects various domains of child development. However, the question of which factors promote or hinder maternal EA has not been investigated systematically. The present study investigated several maternal characteristics, namely maternal psychopathology, maternal attachment style insecurity, and theory of mind (ToM) as possible factors that influence maternal EA. The sample was comprised of 56 mothers and their preschool-aged children. Half of the mothers were diagnosed with postpartum depression and or anxiety disorders according to DSM-IV, and the other half were healthy controls. The results showed that both low maternal attachment style insecurity and high ToM skills significantly predicted maternal EA sensitivity, independently from maternal postpartum and concurrent psychopathology and education. Moreover, maternal attachment style insecurity fully mediated the link between maternal postpartum psychopathology and sensitivity. The findings suggest that maternal attachment style security can buffer negative effects of maternal psychopathology on maternal sensitivity in the mother-child interaction. © 2016 S. Karger AG, Basel.

  4. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  5. Nevoid basal cell carcinoma syndrome

    Science.gov (United States)

    NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic ... syndrome is known as PTCH ("patched"). The gene is passed down ...

  6. Maternal obesity and prenatal programming.

    Science.gov (United States)

    Elshenawy, Summer; Simmons, Rebecca

    2016-11-05

    Obesity is a significant and increasing public health concern in the United States and worldwide. Clinical and epidemiological evidence clearly shows that genetic and environmental factors contribute to the increased susceptibility of humans to obesity and its associated comorbidities; the interplay of these factors is explained by the concept of epigenetics. The impact of maternal obesity goes beyond the newborn period; fetal programming during the critical window of pregnancy, can have long term detrimental effects on the offspring as well as future generations. Emerging evidence is uncovering a link between the clinical and molecular findings in the offspring with epigenetic changes in the setting of maternal obesity. Research targeted towards reducing the transgenerational propagation and developmental programming of obesity is vital in reducing the increasing rates of disease. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  7. Maternal mortality following caesarean sections.

    Science.gov (United States)

    Sikdar, K; Kundu, S; Mandal, G S

    1979-08-01

    A study of 26 maternal deaths following 3647 caesarean sections was conducted in Eden Hospital from 1974-1977. During the time period there were 35,544 births and 308 total maternal deaths (8.74/1000). Indications for Caesarean sections included: 1) abnormal presentation; 2) cephalopelvic disproportion; 3) toxemia; 4) prolonged labor; 5) fetal distress; and 6) post-caesarean pregnancies. Highest mortality rates were among cephalopelvic disproportion, toxemia, and prolonged labor patients. 38.4% of the patients died due to septicaemia and peritonitis, but other deaths were due to preclampsia, shock, and hemorrhage. Proper antenatal care may have prevented anemia and preclampsia and treated other pre-existing or superimposed diseases.

  8. Maternal age and child morbidity

    DEFF Research Database (Denmark)

    Hviid, Malene Meisner; Skovlund, Charlotte Wessel; Mørch, Lina Steinrud

    2017-01-01

    the association between maternal age and overall child morbidity according to main diagnosis groups. MATERIAL AND METHODS: We conducted a national cohort study including 352 027 live firstborn singleton children. The children were born between Jan 1994 and Dec 2009 and followed to Dec 2012. Children were divided...... into groups according to maternal age: 15-24, 25-29, 30-34, and 35+ years. Poisson regression analyses calculated adjusted incidence rate ratios (IRR) of child morbidities according to main diagnoses groups A-Q of the International Classification of Disease 10 with adjustment for year of birth, body mass...... index, smoking, and mother's level of education. RESULTS: Average follow-up time was 11 years. Compared to children born to women 25-29 years, firstborn children to mothers aged 35+ had higher child morbidity in 8 of 19 main diagnosis groups and firstborn children to mothers 15-24 years had higher child...

  9. Hepatitis E and Maternal Deaths

    Centers for Disease Control (CDC) Podcasts

    2012-11-06

    Dr. Alain Labrique, assistant professor in the Department of International Health and Department of Epidemiology at the Bloomberg School of Public Health, gives us his perspective on hepatitis E and maternal deaths.  Created: 11/6/2012 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID); National Center for Immunization and Respiratory Diseases (NCIRD).   Date Released: 11/7/2012.

  10. The measurement of maternal adiposity.

    LENUS (Irish Health Repository)

    Fattah, C

    2012-02-01

    The issue of maternal obesity has become a major public health problem. Internationally, the diagnosis of obesity is based on body mass index (BMI) that is, weight in kg\\/height in m2. While epidemiological associations have been shown between different BMI categories and adverse clinical outcomes, there is also a growing realisation that BMI has significant limitations. In this review, we assess current methods to measure body fat and, in particular, their application in pregnant women.

  11. Nutcracker syndrome

    International Nuclear Information System (INIS)

    Jolley, Ingrid

    2014-01-01

    Purpose: The purpose of this case study is to highlight the symptoms of the Nutcracker Syndrome (NCS), the methods of clinical investigations and the importance of differential diagnosis. Introduction: The NCS refers to left renal vein entrapment caused by abnormal branching patterns of the superior mesenteric artery from the aorta. 1,2 Clinical case presentation: A 27 years old female presented to the emergency department with complaints of abdominal discomfort, bloating, loose bowel motions and irregular micro-haematuria. The radiologist's report indicated the findings from computed tomography examination to be consistent with anterior NCS. Discussion: In most of the NCS cases the clinical symptoms are non-specific. 3 The syndrome is caused by a vascular disorder, but its clinical manifestation can relate to a wide range of abdominal, urological, endovascular or gynaecological pathologies. 4 Conclusion: Nutcracker Syndrome is a relatively rare disease and underdiagnosed may lead to left renal vein thrombosis

  12. Compartment syndromes

    Science.gov (United States)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  13. Usher Syndrome

    Directory of Open Access Journals (Sweden)

    Ana Fakin

    2012-06-01

    Full Text Available Usher syndrome is an autosomal recessive disease with prevalence of 3–6/100.000 and is the most common syndrome that affects vision and hearing. Three subtypes are distinguished on the basis of different degree of hearing loss. All patients develop retinitis pigmentosa with night vision difficulties and constriction of visual field, and ultimately a decline in visual acuity and color vision. Future holds promise for gene therapy. We present a patient with typical clinical picture of Usher syndrome, who started noticing night vision problems at age 13. At age 25 he was operated on for posterior cortical cataracts. At age 34 he has only 5–10° of visual field remaining with 1.0 visual acuity in both eyes. Fundus autofluorescence imaging revealed a typical hyperautofluorescent ring on the border between normal and affected retina.

  14. Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Ikinci

    2010-10-01

    Full Text Available Metabolic Syndrome is a combination of risk factors including common etiopathogenesis. These risk factors play different roles in occurence of atherosclerotic diseases, type 2 diabetes, and cancers. Although a compromise can not be achieved on differential diagnosis for MS, the existence of any three criterias enable to diagnose MS. These are abdominal obesity, dislipidemia (hypertrigliceridemia, hypercholesterolemia, and reduced high density lipoprotein hypertension, and elevated fasting blood glucose. According to the results of Metabolic Syndrome Research (METSAR, the overall prevalence of MS in Turkey is 34%; in females 40%, and in males it is 28%. As a result of “Western” diet, and increased frequency of obesity, MS is observed in children and in adolescents both in the world and in Turkey. Resulting in chronic diseases, it is thought that the syndrome can be prevented by healthy lifestyle behaviours. [TAF Prev Med Bull 2010; 9(5.000: 535-540

  15. Trajectories of parenting behavior and maternal depression.

    Science.gov (United States)

    Azak, Schale; Raeder, Sabine

    2013-06-01

    This study investigated trajectories of maternal parenting behavior across the infants' first 18 months of life in relation to maternal depression. Furthermore, predictors of the quality of the mother-infant relationship at 18 months were examined. Participants consisted of three types of mother-infant dyads: mothers with comorbid depression and anxiety (n=19), mothers with depression (n=7) and nondepressed mothers (n=24). Maternal behaviors and the quality of relationship were rated on a global scale (NICHD) from video-taped mother-infant interactions. Maternal behaviors rated at six, 12 and 18 months were collapsed into a composite variable maternal style. The quality of the relationship captured as dyadic mutuality was rated at 18 months. Comorbid and depressed mothers showed lower quality in maternal style compared with the nondepressed mothers at six months. Over the follow-up the comorbid mothers were lower in maternal style compared to the nondepressed mothers, but the comorbid mothers increased significantly in maternal style despite elevated depression symptoms. Mean maternal style and infant cognitive skills predicted the quality in relationship at 18 months suggesting that the mother-toddler relationship depends on contributions from the mother and the child. Higher growth in maternal style despite of depression symptoms among comorbid mothers was interpreted against the background that the majority of the comorbid mother-infant dyads received several treatments. Copyright © 2013 Elsevier Inc. All rights reserved.

  16. Maternal feeding controls fetal biological clock.

    Directory of Open Access Journals (Sweden)

    Hidenobu Ohta

    Full Text Available BACKGROUND: It is widely accepted that circadian physiological rhythms of the fetus are affected by oscillators in the maternal brain that are coupled to the environmental light-dark (LD cycle. METHODOLOGY/PRINCIPAL FINDINGS: To study the link between fetal and maternal biological clocks, we investigated the effects of cycles of maternal food availability on the rhythms of Per1 gene expression in the fetal suprachiasmatic nucleus (SCN and liver using a transgenic rat model whose tissues express luciferase in vitro. Although the maternal SCN remained phase-locked to the LD cycle, maternal restricted feeding phase-advanced the fetal SCN and liver by 5 and 7 hours respectively within the 22-day pregnancy. CONCLUSIONS/SIGNIFICANCE: Our results demonstrate that maternal feeding entrains the fetal SCN and liver independently of both the maternal SCN and the LD cycle. This indicates that maternal-feeding signals can be more influential for the fetal SCN and particular organ oscillators than hormonal signals controlled by the maternal SCN, suggesting the importance of a regular maternal feeding schedule for appropriate fetal molecular clockwork during pregnancy.

  17. Eagle's Syndrome

    Science.gov (United States)

    Pinheiro, Thaís Gonçalves; Soares, Vítor Yamashiro Rocha; Ferreira, Denise Bastos Lage; Raymundo, Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

    2013-01-01

    Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT) of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical. PMID:25992033

  18. Eagle's Syndrome

    Directory of Open Access Journals (Sweden)

    Pinheiro, Thaís Gonçalves

    2014-01-01

    Full Text Available Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical.

  19. Rapunzel syndrome

    International Nuclear Information System (INIS)

    Al-Wadan, Ali H.; Al-Saai, Azan S.; Abdoulgafour, Mohamed; Al-Absi, Mohamed

    2006-01-01

    An 18-year-old single female patient, presented with non specific gastrointestinal symptoms of anorexia, abdominal pain, and change in bowel habit. Clinically she was anemic, cachectic, and depressed. Abdominal examination revealed mobile epigastric mass. The scalp alopecia and endoscopy coupled by computed tomography scan, confirmed the diagnoses of trichobezoar, but it was not diagnosed as Rapunzel syndrome except after laparotomy, gastrotomy, and enterotomy. There are less than 16 cases of Rapunzel syndrome described worldwide, and this is the first case to be described in the middle east. (author)

  20. Waardenburg syndrome

    Directory of Open Access Journals (Sweden)

    Tagra Sunita

    2006-01-01

    Full Text Available Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  1. Olmsted syndrome

    Directory of Open Access Journals (Sweden)

    Kumar Pramod

    2008-01-01

    Full Text Available Olmsted syndrome is a rare disorder characterized by the combination of periorificial, keratotic plaques and bilateral palmoplantar keratoderma. New associated features are being reported. Olmsted syndrome is particularly rare in a female patient, and we report such a case in a six year-old Indian girl, who presented with keratoderma of her soles since birth and on her palms since the age of two years along with perioral and perinasal hyperkeratosis. She had sparse, light brown, thin hair. Although the psychomotor development of the child was normal until 18 months of age, the keratoderma plaques had restricted the child′s mobility after that stage.

  2. Eagle syndrome

    International Nuclear Information System (INIS)

    Raina, Deepika; Gothi, Rajesh; Rajan, Sriram

    2009-01-01

    Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament, which then may produce a pain sensation due the pressure exerted on various structures in the head and neck. When suspected, imaging helps in identifying the abnormally elongated styloid process or the calcified ligament. In recent years, three-dimensional CT (3DCT) has proved to be valuable in these cases. We report the case of a 62-year-old man with this syndrome in whom imaging with 3DCT conclusively established the diagnosis

  3. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  4. Fenton's syndrome

    International Nuclear Information System (INIS)

    Rimondi, E.; Albasini, V.

    1989-01-01

    The authors report two recent cases of Fenton's syndrome, a very rare carpal fracture-dislocation. After some anatomophysiopathological considerations and a review of the literature, a wider nosographic frame is proposed in which the entity of the dislocation of the head of capitate bone is not essential. According to both the literature and personal findings, the authors remark that this syndrome is always found in the presence of two morphological variants of the distal radioulnar joint. Finally, the authors stress the importance of a corect diagnosis of this lesion to avoid unnecessary attempts of reduction

  5. Reiter's Syndrome.

    Science.gov (United States)

    Savant, S S; Fernandez, J C; Dhurandhar, M W; Fernandez, R J

    1979-01-01

    A case of Reiter's syndrome occurring in a young mate aged 20 years having extensive skin lesions of keratoderina blenoffhagica is presented along with a review of literature. Although urethritis was absent, other clinical and histopathological features of the cutaneous lesions led us to the diagnosis. The-possible relationship of postural psoriasis to Reiter's syndrome is discussed. Failure of the patient to respond satisfactorily to steroids, antibiotics etc, prompted the use of rnethotrexate in the case. The result was dramatic, as the patient completely recovered within ten days of starting treatment.

  6. Larsen syndrome

    Directory of Open Access Journals (Sweden)

    Mohammed Mahbubul Islam

    2016-08-01

    Full Text Available Larsen syndrome is a rare inherited disorder characterized by congenital dislocation of multiple joints along with other anomalies of heart, face, hands and bones. Larsen syndrome was first described in 1950 by Larsen, Schottstaedt and Bost. In the present report, we describe a 10 year old girl who presented with mid facial hypoplasia with depressed nasal bridge, high arched palate, bilateral talipes equinovarus and high arched feet. On examination, she had short stature (HAZ -3.5 SD with hyperextension of knee joint, fixed flexion of elbow joint. Awareness of this condition and associated complications may help in management and follow up of these patients. 

  7. Joubert syndrome

    International Nuclear Information System (INIS)

    Villanua, J.A.; Lopez, J.M.; Recondo, J.A.; Garcia, J.M.; Gaztanaga, R.

    1998-01-01

    Joubert syndrome is a rare malformation of the posterior fossa, mainly affecting the cerebellar vermis, which generally appears as a dysplastic lesion. Other structures of the cervico medullary junction may be involved, with accompanying brainstem hypoplasia according to neuroimaging studies. The diagnosis is usually reached during, childhood, based on a constellation of changes in the child's neurological development that are supported by the results of imaging studied. Respiratory problems are the most common signs in newborns,leading to the suspicion of the presence of this syndrome. (Author) 11 refs

  8. Lemierre's syndrome.

    LENUS (Irish Health Repository)

    O'Dwyer, D N

    2012-02-01

    Lemierre\\'s syndrome is a rare disease that results in an oropharyngeal infection, which precipitates an internal jugular vein thrombosis and metastatic infection. Fusobacterium necrophorum is an anaerobic Gram-negative bacillus and has been identified as the causative agent. We describe the case of a young girl whose presentation and diagnosis were confounded by a history of valvular heart disease. Infection of heart valves can produce many of the signs and symptoms associated with Lemierre\\'s syndrome. We describe the diagnosis, investigation and optimal management of this rare disorder.

  9. Meigs' Syndrome

    International Nuclear Information System (INIS)

    Baloch, S.; Khaskheli, M.; Farooq, S.

    2006-01-01

    Meigs' syndrome is a rare clinical condition commonly considered to be associated with malignant ovarian tumour. A case of unmarried female is presented who came with a slowly increasing abdominal mass. Clinical and ultrasonic investigations revealed a mobile, solid right adenexal tumour in the lower abdomen, along with ascites and pleural effusion of the right lung. The level of CA 125 was also raised. Diagnosis of Meigs' syndrome was confirmed after surgical intervention. The tumour was successfully removed and pleural effusion disappeared 15 days after the intervention. Cytomorphologic study of both the tumour and ascitic fluid was negative for malignancy. (author)

  10. [Elsberg syndrome].

    Science.gov (United States)

    Nielsen, Kristine Esbjerg; Knudsen, Troels Bygum

    2013-12-16

    A syndrome involving acute urinary retention in combination with sacral radiculitis and cerebrospinal fluid pleocytosis was first described by the American neurosurgeon Charles Elsberg in 1931. In many instances the aetiology is herpes simplex virus type 2 (HSV-2) reactivation from sensory neurons. In this case report we present a 34-year-old pregnant woman with previous undiagnosed sensory lumbosacral symptoms. She was hospitalized with HSV-2 meningitis and lumbosacral radiculitis but no genital rash. A week after the onset of symptoms she developed acute urinary retention, thus indicating Elsberg syndrome.

  11. How does maternal oxytocin influence children's mental health problem and maternal mental health problem?

    Science.gov (United States)

    Tse, Wai S; Siu, Angela F Y; Wong, Tracy K Y

    2017-12-01

    This study aims to explore the interrelationship among maternal oxytocin (OT) responsiveness, maternal mental health, maternal parenting behavior, and mental health of children under a free-play interaction. 61 mother-child dyads were recruited for the study. Maternal mental health problem and parenting self-efficacy were measured using self-reported questionnaires. The mental health problems of children were also evaluated using a mother-reported questionnaire. Furthermore, salivary OT was collected before and after a standardized 10min free-play interaction. Parenting behaviors, including eye gaze and touch, were measured during the free-play interaction. Maternal OT responsiveness was significantly associated with less maternal mental health problem, touch frequency, and mental health problem of children but not with parenting self-efficacy. In the multivariate linear regression analysis that considers maternal OT responsiveness and maternal and children's mental health problems, maternal OT responsiveness was not associated with the mental health problems of children. This result suggested that maternal mental health problem played a mediational role between maternal OT responsiveness and the mental health problem of children. Results supported the assertion that maternal OT responsiveness contributed to the increased risk of maternal mental health problems and, subsequently, the risk of mental health problems of their children. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Maternal emotion regulation during child distress, child anxiety accommodation, and links between maternal and child anxiety.

    Science.gov (United States)

    Kerns, Caroline E; Pincus, Donna B; McLaughlin, Katie A; Comer, Jonathan S

    2017-08-01

    Environmental contributions are thought to play a primary role in the familial aggregation of anxiety, but parenting influences remain poorly understood. We examined dynamic relations between maternal anxiety, maternal emotion regulation (ER) during child distress, maternal accommodation of child distress, and child anxiety. Mothers (N=45) of youth ages 3-8 years (M=4.8) participated in an experimental task during which they listened to a standardized audio recording of a child in anxious distress pleading for parental intervention. Measures of maternal and child anxiety, mothers' affective states, mothers' ER strategies during the child distress, and maternal accommodation of child anxiety were collected. Mothers' resting respiratory sinus arrhythmia (RSA) reactivity during the recording was also acquired. Higher maternal negative affect and greater maternal ER switching (i.e., using multiple ER strategies in a short time without positive regulatory results) during child distress were associated with child anxiety. Sequential mediation modeling showed that maternal anxiety predicted ineffective maternal ER during child distress exposure, which in turn predicted greater maternal accommodation, which in turn predicted higher child anxiety. Findings support the mediating roles of maternal ER and accommodation in linking maternal and child anxiety, and suggest that ineffective maternal ER and subsequent attempts to accommodate child distress may act as mechanisms underlying the familial aggregation of anxiety. Copyright © 2017 Elsevier Ltd. All rights reserved.

  13. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  14. Maternal Depression and Parent Management Training Outcomes.

    Science.gov (United States)

    Dempsey, Jack; McQuillin, Samuel; Butler, Ashley M; Axelrad, Marni E

    2016-09-01

    This study examines the impact of maternal depression on reductions in children's behavior problems severity following implementation of the Brief Behavioral Intervention-a brief, manualized parent management training treatment. The parents of 87 children aged 2-6 years of age received parent management training at a metropolitan hospital. Parents of participants completed measures of externalizing behavior and maternal depression. The association between pre-post treatment change in externalizing behavior and maternal depression was examined using an autoregressive cross-lagged model. Results showed that self-reported maternal depressive symptoms at pre-treatment negatively influenced the overall magnitude of reduction of reported externalizing behaviors in children following treatment. Results indicate that aspects of family functioning not specifically targeted by parent management training, such as maternal depression, significantly affect treatment outcomes. Clinicians providing parent management training may benefit from assessing for maternal depression and modifying treatment as indicated.

  15. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and/or ...... LS in this day and age appears to be low, however the syndrome is difficult to recognize, and still requires the full attention of the clinician.......This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and....../or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium...

  16. Sjogren syndrome

    NARCIS (Netherlands)

    Brito-Zeron, Pilar; Baldini, Chiara; Bootsma, Hendrika; Bowman, Simon J.; Jonsson, Roland; Mariette, Xavier; Sivils, Kathy; Theander, Elke; Tzioufas, Athanasios; Ramos-Casals, Manuel

    2016-01-01

    Sjogren syndrome (SjS) is a systemic autoimmune disease that primarily affects the exocrine glands (mainly the salivary and lacrimal glands) and results in the severe dryness of mucosal surfaces, principally in the mouth and eyes. This disease predominantly affects middle-aged women, but can also be

  17. Rett Syndrome

    Science.gov (United States)

    ... loss of interest in normal play Delayed speech development or loss of previously acquired speech abilities Problem behavior or marked mood swings Any clear loss of previously gained milestones in gross motor or fine motor skills Causes Rett syndrome is a rare genetic disorder. ...

  18. Nodding Syndrome

    Centers for Disease Control (CDC) Podcasts

    2013-12-19

    Dr. Scott Dowell, a CDC director, discusses the rare illness, nodding syndrome, in children in Africa.  Created: 12/19/2013 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 1/27/2014.

  19. Piriformis Syndrome

    Science.gov (United States)

    ... can usually resume their normal activities. In some cases, exercise regimens may need to be modified in order to reduce the likelihood of recurrence or worsening. Clinical Trials Throughout the U.S. ... Definition Piriformis syndrome is a rare neuromuscular disorder that ...

  20. Hellp syndrome

    International Nuclear Information System (INIS)

    Chaudhry, A.A.

    2002-01-01

    A 24 years old female presented with hypertension, haemolysis, elevated liver enzymes and thrombocytopenia in an unconscious state after undergoing an emergency caesarian section. A diagnosis of HELLP syndrome was made on the above findings. Patient made an uneventful recovery with conservative management. A brief review of the literature is included along with the case report. (author)

  1. Kartagener's Syndrome.

    Science.gov (United States)

    Dhar, D K; Ganguly, K C; Alam, S; Hossain, A; Sarker, U K; Das, B K; Haque, M J

    2009-01-01

    Kartagener's Syndrome or Immotile Cilia Syndrome, a variant of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive genetic disorder caused by defect in the tiny hair like structure, the cilia lining the respiratory tract (upper and lower), sinuses, eustachian tubes, middle ear and fallopian tubes. Here electron microscopy shows abnormal arrangement of ciliary tubules and patients with Kartagener's syndrome has an absence of dynein arms at the base of the cilia. The inability of cilia to move results in inadequate clearance of bacteria from the air passages, resulting in an increased risk of infection and causing bronchiectasis. Another result of ciliary immobility is infertility. A 60 years old lady was diagnosed as a case of Kartagener's syndrome. She had history of chronic cough for 20 years, irregular fever for 20 years and occasional shortness of breath for 5 years. Relevant investigations revealed dextrocardia, situs inversus, bilateral maxillary sinusitis with non pneumatised frontal sinus and bronchiectasis. She was treated with low concentration oxygen inhalation, antibiotic, bronchodilator, chest physiotherapy including postural drainage, vitamins and other supportive treatment.

  2. Carraro syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wendler, H.; Schwarz, R.

    1980-07-01

    The report concerns a girl aged 9 1/2 years who was deaf and dumb and had marked shortening of the calves with deformities of the feet and bilateral, congenital hypoplasia of the tibiae. This syndrome was first described by Carraro in 1931, but there have been no further reports since then.

  3. Rett Syndrome.

    Science.gov (United States)

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  4. Alagille Syndrome

    Science.gov (United States)

    ... 3] Kamath BM, Loomes KM, Piccoli DA. Medical management of Alagille syndrome. Journal of Pediatric Gastroenterology and Nutrition. 2010;50(6): ... 30 a.m. to 5 p.m. eastern time, M-F Follow Us NIH… Turning Discovery Into ... Disease Urologic Diseases Endocrine Diseases Diet & Nutrition ...

  5. Kounis syndrome

    African Journals Online (AJOL)

    neoplastic agents), exposure to radiological contrast media, poison ivy, bee stings, shellfish and coronary stents. In addition to coronary arterial involvement, Kounis syndrome com prises other arterial systems with similar physiologies, such as mesenteric and cerebral circulation resulting in ischaemia/infarction of the vital ...

  6. Proteus syndrome

    Directory of Open Access Journals (Sweden)

    Debi Basanti

    2005-01-01

    Full Text Available Proteus syndrome is a variable and complex disorder characterized by multifocal overgrowths affecting any tissue or structure of the body. We present a girl aged 3 years and 8 months with an epidermal nevus, port-wine stain, macrodactyly with gigantism of the feet, lymphohemagiomas and multiple lipomas.

  7. Crest syndrome

    International Nuclear Information System (INIS)

    Koch, B.; Roedl, W.

    1988-01-01

    If a patient has peri- and intra-articular calcinosis, as well as acro-osteolysis and esophageal hypomotility, and rheumatic symptoms, Crest syndrome should be considered as a manifestation of progressive systemic sclerosis. In connection with relevant symptoms on the skin and visceral involvement, radiological studies offer the possibility of classifying progressive systemic sclerosis more accurately. (orig.) [de

  8. Gitelman syndrome.

    NARCIS (Netherlands)

    Knoers, N.V.A.M.; Levtchenko, E.N.

    2008-01-01

    Gitelman syndrome (GS), also referred to as familial hypokalemia-hypomagnesemia, is characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence

  9. Marfan Syndrome

    Science.gov (United States)

    ... can treat many of its symptoms. Thanks to new research and treatments, people with Marfan syndrome who are diagnosed early ... This helps doctors stay on top of any new problems. Doctors might also ... or kids with amblyopia or strabismus will probably need to wear glasses. ...

  10. Kartagener's Syndrome

    African Journals Online (AJOL)

    GB

    presenting with recurrent upper and lower respiratory tract infections, sinusitis or bronchiectasis. Inability to diagnose this condition may subject the patient to unnecessary and repeated hospital admissions, investigations and treatment failure. KEY WORDS: Kartagener's syndrome, primary cilliary dyskinesia, situs inversus, ...

  11. Maternal and neonatal outcomes of respiratory failure during pregnancy

    Directory of Open Access Journals (Sweden)

    Chen-Yiu Hung

    2018-05-01

    Full Text Available Background: Obstetric patients comprise a limited portion of intensive care unit patients, but they often present with unfamiliar conditions and exhibit the potential for catastrophic deterioration. This study evaluated the maternal and neonatal outcomes of respiratory failure during pregnancy. Methods: Information on 71 patients at >25 weeks gestation in the ICU with respiratory failure was recorded between 2009 and 2013. The characteristics and outcomes of mothers and fetuses were determined through a retrospective chart review and evaluated using Student's t test, chi-square test, and Fisher's exact test. Results: The leading causes of respiratory failure were postpartum hemorrhage and severe preeclampsia in the obstetric causes group and pneumonia in the nonobstetric causes group during pregnancy and the peripartum period. The non-obstetric causes group exhibited a higher incidence of acute respiratory distress syndrome and renal replacement therapy as well as requiring more ventilator days. The patients in the obstetric causes group showed significant improvement after delivery in the partial pressure of arterial oxygen to the fraction of inspired oxygen and peak inspiratory pressure decrease. Both groups exhibited high incidences of neonatal respiratory distress syndrome. Neonatal complications resulting from meconium aspiration syndrome (MAS and sepsis were more common in the non-obstetric causes group; however, neurological development impairment was more common in the obstetric causes group. Conclusion: Obstetric cause was associated with longer ventilator free days and fewer episodes of ARDS after delivery. Neonatal complications resulting from different etiologies of respiratory failure were found to differ. Keywords: Acute respiratory distress syndrome, Neonatal, Obstetric, Outcome, Respiratory failure

  12. Heritable Variation, With Little or No Maternal Effect, Accounts for Recurrence Risk to Autism Spectrum Disorder in Sweden.

    Science.gov (United States)

    Yip, Benjamin Hon Kei; Bai, Dan; Mahjani, Behrang; Klei, Lambertus; Pawitan, Yudi; Hultman, Christina M; Grice, Dorothy E; Roeder, Kathryn; Buxbaum, Joseph D; Devlin, Bernie; Reichenberg, Abraham; Sandin, Sven

    2018-04-01

    Autism spectrum disorder (ASD) has both genetic and environmental origins, including potentially maternal effects. Maternal effects describe the association of one or more maternal phenotypes with liability to ASD in progeny that are independent of maternally transmitted risk alleles. While maternal effects could play an important role, consistent with association to maternal traits such as immune status, no study has estimated maternal, additive genetic, and environmental effects in ASD. Using a population-based sample consisting of all children born in Sweden from 1998 to 2007 and their relatives, we fitted statistical models to family data to estimate the variance in ASD liability originating from maternal, additive genetic, and shared environmental effects. We calculated sibling and cousin family recurrence risk ratio as a direct measure of familial, genetic, and environmental risk factors and repeated the calculations on diagnostic subgroups, specifically autistic disorder (AD) and spectrum disorder (SD), which included Asperger's syndrome and/or pervasive developmental disorder not otherwise specified. The sample consisted of 776,212 children of whom 11,231 had a diagnosis of ASD: 4554 with AD, 6677 with SD. We found support for large additive genetic contribution to liability; heritability (95% confidence interval [CI]) was estimated to 84.8% (95% CI: 73.1-87.3) for ASD, 79.6% (95% CI: 61.2-85.1) for AD, and 76.4% (95% CI: 63.0-82.5) for SD. There was modest, if any, contribution of maternal effects to liability for ASD, including subtypes AD and SD, and there was no support for shared environmental effects. These results show liability to ASD arises largely from additive genetic variation. Copyright © 2017 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.

  13. Pregnancy and Antiphospholipid Syndrome.

    Science.gov (United States)

    Schreiber, Karen; Hunt, Beverley J

    2016-10-01

    Antiphospholipid syndrome (APS) is classified as the association of thrombotic events and/or obstetric morbidity in patients persistently positive for antiphospholipid antibodies (aPL). APS is also the most frequently acquired risk factor for a treatable cause of recurrent pregnancy loss and increases the risk of conditions associated with ischemic placental dysfunction, such as stillbirth, intrauterine death, preeclampsia, premature birth, and fetal growth restriction. The use of low-dose aspirin and heparin has improved the pregnancy outcome in obstetric APS and approximately 70% of pregnant women with APS will deliver a viable live infant. However, current management does not prevent all maternal, fetal, and neonatal complications of APS and the current treatment fails in 20 to 30% of APS pregnancies, raising the need to explore other treatments to improve obstetrical outcome. Two clinical studies of retrospective design have suggested that the immunomodulator hydroxychloroquine (HCQ) may play a role in the prevention of pregnancy complications in women with aPL and APS. The randomized controlled multicenter trial of hydroxychloroquine versus placebo during pregnancy in women with antiphospholipid antibodies (HYPATIA) of HCQ versus placebo will provide scientific evidence on the use of HCQ in pregnant women with aPL. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  14. The perinatal and maternal outcome in pregnancy with advanced maternal age 35 years and >35 years

    OpenAIRE

    Pallavi S. Kalewad; Trupti Nadkarni

    2016-01-01

    Background: Purpose of this study is to evaluate maternal and perinatal outcome in advanced maternal age women. As numbers of pregnancies in advanced maternal age continue to grow, obstetric care provider would benefit from up to date outcome data to enhance their preconceptional and antenatal counseling. Methods: It is observational prospective analytic study, conducted in Nowrosjee Wadia maternity hospital, Parel, Mumbai. Total 100 patients were included in study, fulfilling inclusion cr...

  15. Maternal bereavement and cryptorchidism in offspring

    DEFF Research Database (Denmark)

    Ingstrup, Katja Glejsted; Olsen, Jørn; Wu, Chunsen

    2015-01-01

    BACKGROUND: Cryptorchidism (undescended testis) is a common anomaly with largely unexplained etiology. Animal studies have suggested maternal emotional stress as a potential risk factor, but this has not been studied in humans. We aimed to investigate whether maternal bereavement due to the death...... interval = 0.92-1.14]). Results were similar when the diagnosis was verified with surgery. We adjusted for maternal and paternal age, birth year, and family history of cryptorchidism. CONCLUSION: We observed no association between maternal bereavement before and during pregnancy and the occurrence...

  16. Maternal mortality in Denmark, 1985-1994

    DEFF Research Database (Denmark)

    Andersen, Betina Ristorp; Westergaard, Hanne Brix; Bødker, Birgit

    2008-01-01

    fortuitous causes. Hypertensive disorders of pregnancy were the major cause of direct maternal deaths. The rate of maternal deaths constituted 9.8/100,000 maternities (i.e. the number of women delivering registrable live births at any gestation or stillbirths at 24 weeks of gestation or later). CONCLUSION......: This is the first systematic report on deaths in Denmark based on data from national registries. The maternal mortality rate in Denmark is comparable to the rates in other developed countries. Fortunately, statistics are low, but each case represents potential learning. Obstetric care has changed and classification...

  17. The Effect of Marital Violence on Maternal Parenting Style and Maternal Stress.

    Science.gov (United States)

    Niesman, Cindy S.

    A study examined the effect of extreme marital discord, involving abuse of the mother, on maternal parenting style and level of maternal stress. It was hypothesized that battered women experience a higher level of maternal stress and choose an authoritarian parenting style as a consequence of marital discord. Subjects were 30 mothers of children…

  18. Evidence from Maternity Leave Expansions of the Impact of Maternal Care on Early Child Development

    Science.gov (United States)

    Baker, Michael; Milligan, Kevin

    2010-01-01

    We study the impact of maternal care on early child development using an expansion in Canadian maternity leave entitlements. Following the leave expansion, mothers who took leave spent 48-58 percent more time not working in their children's first year of life. This extra maternal care primarily crowded out home-based care by unlicensed…

  19. Maternal mortality: a global overview.

    Science.gov (United States)

    Choolani, M; Ratnam, S S

    1995-02-01

    Reduction of maternal mortality in developing countries is possible through elimination of unsafe abortion, active management of labor, appropriate management of pregnancy complications, and availability of adequate facilities. Prevention and early recognition are key factors in preventing maternal deaths due to ruptured uteri. A well equipped hospital is the appropriate place for delivery of mothers with a history of previous cesarean sections, a grossly contracted pelvis, previous myomectomies, previous multiple births, and previous abnormal births or complications during delivery. Complicated procedures, use of oxytocins, and administration of anesthesia should be performed with experienced, trained medical personnel. Surveillance of and correction for anemia should occur during the course of the pregnancy. Infections can be controlled with tetanus toxoid immunization and use of chest X-rays. The health care system should be tiered with primary health care services located in suburbs and rural districts. Services should be situated to account for population distribution, extent of maternal mortality in the region, transportation facilities, and the nearest secondary hospital. Birthing homes with sanitary facilities are an option for rural districts. A two-way referral system should be established between the primary, secondary, and tertiary level hospitals. Audits should be conducted as a means of checking for needed improvements in the system. Planning that includes proper roads, transportation, and communication facilities is important. Funding can come in the form of money, materials, and manpower. Safe motherhood requires the commitment of local people and local governments. The first step in a safe motherhood program is creating awareness among the political and economic elite. Governments are encouraged to shift resources from the military to housing, transportation, communications, education, and health during peace-times. Local professional associations

  20. Educación maternal

    OpenAIRE

    Carnicer Fuentes, Inmaculada Concepción

    2010-01-01

    Definir y/o describir los objetivos, metodología y contenidos de la educación maternal como componente del proceso asistencial integrado de atención al “Embarazo, Parto y Puerperio” de la Consejería de Salud de la Junta de Andalucía. Definir y/o describir los aspectos básicos del crecimiento y desarrollo ovular Definir y/o describir los aspectos básicos de la educación sanitaria durante el embarazo, incluyendo aspectos como nutrición, fármacos, vacunas, atención prenatal y prevención ...