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Sample records for hormone deficient children

  1. Growth hormone deficiency - children

    MedlinePlus

    ... the same age. The child will have normal intelligence in most cases. In older children, puberty may ... hormones cause the body to make. Tests can measure these growth factors. Accurate growth hormone deficiency testing ...

  2. Growth Hormone Deficiency in Children

    MedlinePlus

    ... many reasons for slow growth and below-average height in children. At times, slow growth is normal ... same age Signs of GHD • Slowed growth in height in infants, children, or adolescents (teenagers) • A young- ...

  3. Sleep disturbance in children with growth hormone deficiency.

    PubMed

    Hayashi, M; Shimohira, M; Saisho, S; Shimozawa, K; Iwakawa, Y

    1992-05-01

    We examined the effects of growth hormone (GH) deficiency on sleep development by performing all-night polysomnography in three female children with GH deficiency (GHD). The percentage of REM sleep seemed to be reduced before the treatment in 2 cases, and human GH (hGH) compensation slightly increased it. Submental twitch movements (mTMs), i.e., body movements during sleep localized in the submental muscle and lasting less than 0.5 seconds, were commonly disturbed in the three patients. Rapid eye movements in REM sleep (REMs) were reduced before the therapy in one case, this decrease being reversed on hGH compensation. REMs also seemed to increase after hGH treatment in the other two cases. Dopamines and cholinergic muscarinic agonists can cause GH release, while mTMs and REMs might be related to dopaminergic and cholinergic systems in the human brain. It is intriguing that GHD, and the disturbance of mTMs and REMs coexisted in children with GHD. Since a relatively poor social outcome in patients with GHD has been reported, even after hGH compensation, it is important to monitor their neurological development by means of evaluation of their sleep disturbance. PMID:1445594

  4. Growth hormone treatment in non-growth hormone-deficient children.

    PubMed

    Loche, Sandro; Carta, Luisanna; Ibba, Anastasia; Guzzetti, Chiara

    2014-03-01

    Until 1985 growth hormone (GH) was obtained from pituitary extracts, and was available in limited amounts only to treat severe growth hormone deficiency (GHD). With the availability of unlimited quantities of GH obtained from recombinant DNA technology, researchers started to explore new modalities to treat GHD children, as well as to treat a number of other non-GHD conditions. Although with some differences between different countries, GH treatment is indicated in children with Turner syndrome, chronic renal insufficiency, Prader-Willi syndrome, deletions/mutations of the SHOX gene, as well as in short children born small for gestational age and with idiopathic short stature. Available data from controlled trials indicate that GH treatment increases adult height in patients with Turner syndrome, in patients with chronic renal insufficiency, and in short children born small for gestational age. Patients with SHOX deficiency seem to respond to treatment similarly to Turner syndrome. GH treatment in children with idiopathic short stature produces a modest mean increase in adult height but the response in the individual patient is unpredictable. Uncontrolled studies indicate that GH treatment may be beneficial also in children with Noonan syndrome. In patients with Prader-Willi syndrome GH treatment normalizes growth and improves body composition and cognitive function. In any indication the response to GH seems correlated to the dose and the duration of treatment. GH treatment is generally safe with no major adverse effects being recorded in any condition. PMID:24926456

  5. Effect of growth hormone-releasing factor on growth hormone release in children with radiation-induced growth hormone deficiency

    SciTech Connect

    Lustig, R.H.; Schriock, E.A.; Kaplan, S.L.; Grumbach, M.M.

    1985-08-01

    Five male children who received cranial irradiation for extrahypothalamic intracranial neoplasms or leukemia and subsequently developed severe growth hormone (GH) deficiency were challenged with synthetic growth hormone-releasing factor (GRF-44), in an attempt to distinguish hypothalamic from pituitary dysfunction as a cause of their GH deficiency, and to assess the readily releasable GH reserve in the pituitary. In response to a pulse of GRF-44 (5 micrograms/kg intravenously), mean peak GH levels rose to values higher than those evoked by the pharmacologic agents L-dopa or arginine (6.4 +/- 1.3 ng/mL v 1.5 +/- 0.4 ng/mL, P less than .05). The peak GH value occurred at a mean of 26.0 minutes after administration of GRF-44. These responses were similar to those obtained in children with severe GH deficiency due to other etiologies (peak GH 6.3 +/- 1.7 ng/mL, mean 28.0 minutes). In addition, there was a trend toward an inverse relationship between peak GH response to GRF-44 and the postirradiation interval. Prolactin and somatomedin-C levels did not change significantly after the administration of a single dose of GRF-44. The results of this study support the hypothesis that cranial irradiation in children can lead to hypothalamic GRF deficiency secondary to radiation injury of hypothalamic GRF-secreting neurons. This study also lends support to the potential therapeutic usefulness of GRF-44 or an analog for GH deficiency secondary to cranial irradiation.

  6. Burden of Growth Hormone Deficiency and Excess in Children.

    PubMed

    Fideleff, Hugo L; Boquete, Hugo R; Suárez, Martha G; Azaretzky, Miriam

    2016-01-01

    Longitudinal growth results from multifactorial and complex processes that take place in the context of different genetic traits and environmental influences. Thus, in view of the difficulties in comprehension of the physiological mechanisms involved in the achievement of normal height, our ability to make a definitive diagnosis of GH impairment still remains limited. There is a myriad of controversial aspects in relation to GH deficiency, mainly related to diagnostic controversies and advances in molecular biology. This might explain the diversity in therapeutic responses and may also serve as a rationale for new "nonclassical" treatment indications for GH. It is necessary to acquire more effective tools to reach an adequate evaluation, particularly while considering the long-term implications of a correct diagnosis, the cost, and safety of treatments. On the other hand, overgrowth constitutes a heterogeneous group of different pathophysiological situations including excessive somatic and visceral growth. There are overlaps in clinical and molecular features among overgrowth syndromes, which constitute the real burden for an accurate diagnosis. In conclusion, both GH deficiency and overgrowth are a great dilemma, still not completely solved. In this chapter, we review the most burdensome aspects related to short stature, GH deficiency, and excess in children, avoiding any details about well-known issues that have been extensively discussed in the literature. PMID:26940390

  7. Educating children and families about growth hormone deficiency and its management: part 1.

    PubMed

    Collin, Jacqueline; Whitehead, Amanda; Walker, Jenny

    2016-02-01

    The management of growth hormone deficiency is long term. Children may be diagnosed at pre-school age meaning relationships with the paediatric endocrine team may last more than 15 years. The education role of the paediatric endocrine nurse specialist is essential in working in partnership with families over a long period of time. Children and young people have changing needs for information to help them understand their condition and growth hormone deficiency treatment as they grow up. Developing positive working relationships with parents, children and young people enables their developmental needs and the context in which they live their lives to be central to any educational planning for them. Addressing developmental needs when providing information on growth hormone deficiency to children and young people reinforces the need for education to be an ongoing process and not a one-off event. This is part one of a two-part article. The second part will be published in the March issue of Nursing Children and Young People and it focuses on educating children, young people and their parents about the condition, and includes case studies. PMID:26856576

  8. Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency.

    PubMed

    Kandemir, Nurgün; Vurallı, Doğuş; Taşkıran, Ekim; Gönç, Nazlı; Özön, Alev; Alikaşifoğlu, Ayfer; Yılmaz, Engin

    2012-01-01

    Mutations in the prophet of Pit-1 (PROP-1) gene are responsible for most of the cases of combined pituitary hormone deficiencies (CPHD). We performed this study to determine the prevalence of PROP-1 mutations in a group of Turkish children with CPHD. Fifty-three children with the diagnosis of CPHD were included in this study. Clinical data were obtained from medical files, and hormonal evaluation and genetic screening for PROP-1 mutations were performed. A homozygous S109X mutation was found in the second exon in two brothers, and they had growth hormone (GH) and thyroid-stimulating hormone (TSH) deficiencies and normal prolactin levels. In the third exon of the PROP-1 gene, a heterozygous A142T polymorphism was found in 14 patients and a homozygous A142T polymorphism was found in 3 patients. In the first exon, a homozygous A9A polymorphism was found in 7 patients and a heterozygous A9A polymorphism was found in 31 patients. We assumed that mutations in the PROP-1 gene in cases with CPHD were expected to be more prevalent in our population due to consanguinity, but it was found that these mutations were far less than expected and that it was rare in non-familial cases. PMID:23692781

  9. An examination of the effects of different doses of recombinant human growth hormone on children with growth hormone deficiency

    PubMed Central

    XUE, YING; GAO, YIQING; WANG, SHUQIN; WANG, PEI

    2016-01-01

    The aim of the present study was to examine the effects of different doses of recombinant human growth hormone (rhGH) on children with growth hormone deficiency (GHD) and on thyroid and glucose metabolism to identify more reasonable therapeutic doses of growth hormone (GH) for the treatment of this condition. In total, 60 prepubertal patients with GHD were randomly divided into the high-dose and low-dose groups (n=30 per group). The groups were treated with 0.1 or 0.05 U/kg for 6 months, respectively. The follow-up study focused on changes to the serum levels of insulin-like growth factor-1 (IGF-1), insulin-like growth factor binding protein (IGFBP)-3, blood glucose, thyroid hormone [triiodothyronine (T3) and its prohormone, thyroxine (T4), and thyroid stimulating hormone (TSH)] and the analysis of variance of the repeated data. Changes in the height, body weight and bone age of the high-dose group were greater than those of the low-dose group. After 6 months of treatment, the difference in height between the two groups was statistically significant (P<0.05). Glucose metabolism in the two groups was consistent, but there was a statistically significant difference in the fasting blood glucose (FBG) levels of the two groups after 6 months of treatment (P<0.05). Prior to treatment, the T3, T4 and TSH values (the thyroid function tests) in the two groups, especially for the value of T3 in high-dose group were varied. However, 6 months after treatment, statistically significant differences between the two groups (P<0.05) were identified. In conclusion, 0.1 U/kg of GH is beneficial to children with GHD in attaining a satisfactory height, but it leads to insulin resistance. Thus, glucose metabolism and thyroid function should be monitored on a regular basis in a clinical setting. PMID:27168784

  10. Increased insulin receptor binding in erythrocytes from growth hormone-deficient children.

    PubMed

    Dávila, N; Barceló, B; Carranza, M C; Calle, C

    1991-08-01

    Erythrocytes from growth hormone-deficient children (GHd-children) (n = 10) showed a statistically significant increase in insulin binding at low unlabeled insulin concentrations, together with a threefold decrease in apparent receptor affinity, as compared to control children (C) (n = 11). Scatchard analysis of the binding data using the two-site model revealed that both the receptor concentration R1 [GHd-children 0.10 +/- 0.01 ng/ml and C 0.03 +/- 0.002 ng/ml] and the dissociation constant KD1 [GHd-children (0.48 +/- 0.05) x 10(-9) M and C (0.19 +/- 0.01) x 10(-9) M] for high affinity-low capacity sites were significantly increased in erythrocytes from GHd-children, while neither receptor concentrations (R2) nor the dissociation constant (KD2) for low affinity-high capacity sites proved to be altered. These events were accompanied by a normal sensitivity to insulin as well as glucose tolerance in the GHd-group. The meaning of the increased insulin binding with normal insulin sensitivity in GH-deficiency is discussed. PMID:1760528

  11. Comparative pharmacokinetics and pharmacodynamics of a PEGylated recombinant human growth hormone and daily recombinant human growth hormone in growth hormone-deficient children

    PubMed Central

    Hou, Ling; Chen, Zhi-hang; Liu, Dong; Cheng, Yuan-guo; Luo, Xiao-ping

    2016-01-01

    Objective Recombinant human growth hormone (rhGH) replacement therapy in children generally requires daily subcutaneous (sc) injections, which may be inconvenient for patients. Jintrolong® is a PEGylated rhGH with the purpose of weekly sc injections. The aim of the current study was to examine the pharmacokinetics, pharmacodynamics, safety, and tolerability of multiple sc doses of Jintrolong® vs daily doses of rhGH. Design and methods Twelve children with growth hormone deficiency participated in this single-center, open-label, crossover Phase I trial. All subjects received daily sc injections of rhGH at 0.0286 mg/kg/d for 7 days, followed by a 4-week washout period and six weekly doses of Jintrolong® at 0.2 mg/kg/w. Results In comparison with rhGH, sc injection of Jintrolong® produced a noticeably higher Cmax, significantly longer half-life (t1/2), and slower plasma clearance, signifying a profile suitable for long-term treatment. The ratio of the area under the concentration vs time curve (AUC) after the seventh and first injections (AUC(0–∞)7th/AUC(0–∞)1st) of rhGH was 1.02, while the AUC(0–∞)6th/AUC(0–∞)1st of Jintrolong ® was 1.03, indicating no accumulation of circulating growth hormone. There was no significant difference in the change in insulin-like growth factor-1 expression produced by 7 days of sc rhGH and weekly Jintrolong® injections. There were no severe adverse events during the trial. Conclusion The elimination rate of Jintrolong® was slower than that of sc rhGH. No progressive serum accumulation of Jintrolong® was found. The changes in insulin-like growth factor-1 expression produced by rhGH and Jintrolong® were comparable, indicating similar pharmacodynamics. Our results demonstrate that Jintrolong® is suitable for long-term growth hormone treatment in children with growth hormone deficiency. PMID:26719670

  12. Genetics Home Reference: isolated growth hormone deficiency

    MedlinePlus

    ... Health Conditions isolated growth hormone deficiency isolated growth hormone deficiency Enable Javascript to view the expand/collapse ... PDF Open All Close All Description Isolated growth hormone deficiency is a condition caused by a severe ...

  13. Genetics of growth hormone deficiency.

    PubMed

    Mullis, Primus E

    2007-03-01

    When a child is not following the normal, predicted growth curve, an evaluation for underlying illness and central nervous system abnormalities is required and appropriate consideration should be given to genetic defects causing growth hormone (GH) deficiency. This article focuses on the GH gene, the various gene alterations, and their possible impact on the pituitary gland. Transcription factors regulating pituitary gland development may cause multiple pituitary hormone deficiency but may present initially as GH deficiency. The role of two most important transcription factors, POU1F1 (Pit-1) and PROP 1, is discussed. PMID:17336732

  14. Prospective study of the development of growth hormone deficiency in children given cranial irradiation, and its relation to statural growth

    SciTech Connect

    Brauner, R.; Rappaport, R.; Prevot, C.; Czernichow, P.; Zucker, J.M.; Bataini, P.; Lemerle, J.; Sarrazin, D.; Guyda, H.J.

    1989-02-01

    Although GH deficiency (GHD) is the most frequent hormonal abnormality that occurs after cranial radiation, the natural course of this complication and its relationship to growth in children are not known. Therefore, we undertook a 2-yr prospective study of 16 children, aged 1.7-15 yr at the time of treatment, who received cranial (31-42 Gy (1 Gy = 100 rads)) and spinal radiation for medulloblastoma or ependymoma (group I). Their growth was compared to that of 11 children given similar doses of cranial radiation only (group II). The mean plasma GH response to arginine-insulin test (AITT) was 9.1 +/- 1.5 (+/- SE) micrograms/L in group I and 8.5 +/- 1.8 micrograms/L in group II (P = NS). After 2 yr, 16 of the 27 children had a peak plasma GH value below 8 micrograms/L after AITT, and 10 children had a peak response less than 5 micrograms/L. In addition, in group I, AITT and sleep-related GH secretion were compared; at the 2 yr follow-up only 3 of 13 children had discrepant results. At the 2 yr follow-up children treated by cranial and spinal radiation had a mean height of -1.46 +/- 0.40 SD below the normal mean. In contrast, the children given only cranial radiation had a mean height of -0.15 +/- 0.18 SD; P less than 0.02. Therefore, most of the growth retardation appeared to be due to lack of spinal growth. GHD is thus an early complication of cranial radiation in these children, and no significant growth retardation can be attributed to GHD during the first 2 yr. These data contribute to the organization of follow-up in irradiated children in order to decide when human GH treatment is necessary.

  15. Growth hormone deficiency: an update.

    PubMed

    Audí, L; Fernández-Cancio, M; Camats, N; Carrascosa, A

    2013-03-01

    Growth hormone (GH) deficiency (GHD) in humans manifests differently according to the individual developmental stage (early after birth, during childhood, at puberty or in adulthood), the cause or mechanism (genetic, acquired or idiopathic), deficiency intensity and whether it is the only pituitary-affected hormone or is combined with that of other pituitary hormones or forms part of a complex syndrome. Growing knowledge of the genetic basis of GH deficiency continues to provide us with useful information to further characterise mutation types and mechanisms for previously described and new candidate genes. Despite these advances, a high proportion of GH deficiencies with no recognisable acquired basis continue to be labelled as idiopathic, although less frequently when they are congenital and/or familial. The clinical and biochemical diagnoses continue to be a conundrum despite efforts to harmonise biochemical assays for GH and IGF-1 analysis, probably because the diagnosis based on the so-called GH secretion stimulation tests will prove to be of limited usefulness for predicting therapy indications. PMID:23435439

  16. Effect of Growth Hormone Deficiency on Brain Structure, Motor Function and Cognition

    ERIC Educational Resources Information Center

    Webb, Emma A.; O'Reilly, Michelle A.; Clayden, Jonathan D.; Seunarine, Kiran K.; Chong, Wui K.; Dale, Naomi; Salt, Alison; Clark, Chris A.; Dattani, Mehul T.

    2012-01-01

    The growth hormone-insulin-like growth factor-1 axis plays a role in normal brain growth but little is known of the effect of growth hormone deficiency on brain structure. Children with isolated growth hormone deficiency (peak growth hormone less than 6.7 [micro]g/l) and idiopathic short stature (peak growth hormone greater than 10 [micro]g/l)…

  17. Effect of biosynthetic methionyl growth hormone (GH) therapy on the immune function in GH-deficient children.

    PubMed

    Bozzola, M; Cisternino, M; Valtorta, A; Moretta, A; Biscaldi, I; Maghnie, M; De Amici, M; Schimpff, R M

    1989-01-01

    The ability of growth hormone (GH) to influence certain immune functions has been studied in 21 GH-deficient children aged 1.8-17.7 years, before and during therapy with biosynthetic methionyl-hGH (12 IU/m2) injected intramuscularly 3 times weekly. Blood was collected prior to GH treatment, then after 1 week, again at 3-6 months, and finally at 9-12 months of therapy. We studied (1) the distribution of the T lymphocyte subpopulations: T total (CD3), helper/inducer (CD4) and suppressor/cytotoxic (CD8) cells, using monoclonal antibodies (OKT3, OKT4, OKT8) and (2) the in vitro IgM production stimulated by pokeweed mitogen. Pretreatment CD3, CD4, CD8 values were within the normal range. They did not change after 1 week of GH therapy. Following 3-6 months of GH treatment, CD3 significantly increased (p less than 0.001), CD4 decreased (p less than 0.01), CD8 increased (p less than 0.001) and the CD4/CD8 ratio decreased (p less than 0.001). At 9-12 months of therapy, the percentages of the different groups of T cells was not significantly different from the pretreatment values. In vitro IgM production before and following 3-6 months of GH treatment was significantly lower (p less than 0.005) than that of 15 age-matched controls. At 9-12 months, GH therapy restored the in vitro IgM production. No variations in the levels of serum immunoglobulins were observed throughout the treatment period. These data suggest that GH plays a role in the development of the immune function in children. PMID:2571554

  18. Effects of growth hormone therapeutic supplementation on hematopoietic stem/progenitor cells in children with growth hormone deficiency: focus on proliferation and differentiation capabilities.

    PubMed

    Kawa, M P; Stecewicz, I; Piecyk, K; Pius-Sadowska, E; Paczkowska, E; Rogińska, D; Sobuś, A; Łuczkowska, K; Gawrych, E; Petriczko, E; Walczak, M; Machaliński, B

    2015-09-01

    We investigated the direct effects of growth hormone (GH) replacement therapy (GH-RT) on hematopoiesis in children with GH deficiency (GHD) with the special emphasis on proliferation and cell cycle regulation. Peripheral blood (PB) was collected from sixty control individuals and forty GHD children before GH-RT and in 3rd and 6th month of GH-RT to measure hematological parameters and isolate CD34(+)-enriched hematopoietic progenitor cells (HPCs). Selected parameters of PB were analyzed by hematological analyzer. Moreover, collected HPCs were used to analyze GH receptor (GHR) and IGF1 expression, clonogenicity, and cell cycle activity. Finally, global gene expression profile of collected HPCs was analyzed using genome-wide RNA microarrays. GHD resulted in a decrease in several hematological parameters related to RBCs and significantly diminished clonogenicity of erythroid progenies. In contrast, GH-RT stimulated increases in clonogenic growth of erythroid lineage and RBC counts as well as significant up-regulation of cell cycle-propagating genes, including MAP2K1, cyclins D1/E1, PCNA, and IGF1. Likewise, GH-RT significantly modified GHR expression in isolated HPCs and augmented systemic IGF1 levels. Global gene expression analysis revealed significantly higher expression of genes associated with cell cycle, proliferation, and differentiation in HPCs from GH-treated subjects. (i) GH-RT significantly augments cell cycle progression in HPCs and increases clonogenicity of erythroid progenitors; (ii) GHR expression in HPCs is modulated by GH status; (iii) molecular mechanisms by which GH influences hematopoiesis might provide a basis for designing therapeutic interventions for hematological complications related to GHD. PMID:25920498

  19. Growth hormone deficiency and cerebral palsy

    PubMed Central

    Devesa, Jesús; Casteleiro, Nerea; Rodicio, Cristina; López, Natalia; Reimunde, Pedro

    2010-01-01

    Cerebral palsy (CP) is a catastrophic acquired disease, occurring during development of the fetal or infant brain. It mainly affects the motor control centres of the developing brain, but can also affect cognitive functions, and is usually accompanied by a cohort of symptoms including lack of communication, epilepsy, and alterations in behavior. Most children with cerebral palsy exhibit a short stature, progressively declining from birth to puberty. We tested here whether this lack of normal growth might be due to an impaired or deficient growth hormone (GH) secretion. Our study sample comprised 46 CP children, of which 28 were male and 18 were female, aged between 3 and 11 years. Data obtained show that 70% of these children lack normal GH secretion. We conclude that GH replacement therapy should be implemented early for CP children, not only to allow them to achieve a normal height, but also because of the known neurotrophic effects of the hormone, perhaps allowing for the correction of some of the common disabilities experienced by CP children. PMID:20856687

  20. Transient partial growth hormone deficiency due to zinc deficiency.

    PubMed

    Nishi, Y; Hatano, S; Aihara, K; Fujie, A; Kihara, M

    1989-04-01

    We present here a 13-year-old boy with partial growth hormone deficiency due to chronic mild zinc deficiency. When zinc administration was started, his growth rate, growth hormone levels, and plasma zinc concentrations increased significantly. His poor dietary intake resulted in chronic mild zinc deficiency, which in turn could be the cause of a further loss of appetite and growth retardation. There was also a possibility of renal zinc wasting which may have contributed to zinc deficiency. Zinc deficiency should be carefully ruled out in patients with growth retardation. PMID:2708733

  1. Growth hormone deficiency - children

    MedlinePlus

    ... gender. The child will still have normal body proportions, but may be chubby. The child's face often ... A physical exam, including weight, height, and body proportions, will show signs of slowed growth. The child ...

  2. Genetics Home Reference: combined pituitary hormone deficiency

    MedlinePlus

    ... People with combined pituitary hormone deficiency may have hypothyroidism, which is underactivity of the butterfly-shaped thyroid gland in the lower neck. Hypothyroidism can cause many symptoms, including weight gain and ...

  3. Effect of growth hormone treatment on quality of life in Japanese children with growth hormone deficiency: an analysis from a prospective observational study.

    PubMed

    Tanaka, Toshiaki; Hasegawa, Tomonobu; Ozono, Keiichi; Tanaka, Hiroyuki; Kanzaki, Susumu; Yokoya, Susumu; Chihara, Kazuo; Iwamoto, Noriyuki; Seino, Yoshiki

    2014-07-01

    The aim of this study was to assess changes in quality of life (QoL) in Japanese children with GH deficiency (GHD) after 12 mo of GH treatment or with idiopathic short stature (ISS) after 12 mo without treatment. Children with GHD were treated with GH after enrollment. Outcome measures included the parent-rated Child Behavior Checklist (CBCL), the Youth Self-Report Form (YSR), and height standard deviation scores (SDS). Total CBCL scores significantly decreased in children with GHD (n = 152, mean change (standard deviation [SD]) = -3.42 [11.21]) and ISS (n = 129, mean change = -4.82 [10.09]) after 12 mo (p < 0.001). Total YSR scores (mean change = -9.21 [14.07]) and height SDS (mean change = 0.35 [0.38]) significantly decreased in children with GHD (p < 0.001), but were unchanged in children with ISS. The change in total YSR score was significantly correlated with the change in height SDS in children with GHD (r = -0.516, p = 0.003). Our findings demonstrate that GH treatment can improve QoL in Japanese children with GHD. The correlation between the changes in total YSR score and height SDS demonstrated that increased height resulted in improved QoL. PMID:25110392

  4. Effect of Growth Hormone Treatment on Quality of Life in Japanese Children with Growth Hormone Deficiency: An Analysis from a Prospective Observational Study

    PubMed Central

    Tanaka, Toshiaki; Hasegawa, Tomonobu; Ozono, Keiichi; Tanaka, Hiroyuki; Kanzaki, Susumu; Yokoya, Susumu; Chihara, Kazuo; Iwamoto, Noriyuki; Seino, Yoshiki

    2014-01-01

    Abstract The aim of this study was to assess changes in quality of life (QoL) in Japanese children with GH deficiency (GHD) after 12 mo of GH treatment or with idiopathic short stature (ISS) after 12 mo without treatment. Children with GHD were treated with GH after enrollment. Outcome measures included the parent-rated Child Behavior Checklist (CBCL), the Youth Self-Report Form (YSR), and height standard deviation scores (SDS). Total CBCL scores significantly decreased in children with GHD (n = 152, mean change (standard deviation [SD]) = –3.42 [11.21]) and ISS (n = 129, mean change = –4.82 [10.09]) after 12 mo (p < 0.001). Total YSR scores (mean change = –9.21 [14.07]) and height SDS (mean change = 0.35 [0.38]) significantly decreased in children with GHD (p < 0.001), but were unchanged in children with ISS. The change in total YSR score was significantly correlated with the change in height SDS in children with GHD (r = –0.516, p = 0.003). Our findings demonstrate that GH treatment can improve QoL in Japanese children with GHD. The correlation between the changes in total YSR score and height SDS demonstrated that increased height resulted in improved QoL. PMID:25110392

  5. Growth Hormone Deficiency, Brain Development, and Intelligence

    ERIC Educational Resources Information Center

    Meyer-Bahlburg, Heino F. L.; And Others

    1978-01-01

    Available from: American Medical Association, 535 N. Dearborn Street, Chicago, Illinois 60610. In order to determine what effect, if any, growth hormone (GH) has on human brain development, 29 patients (mean age 11.7 years) with GH deficiency were selected according to the following criteria: no evidence of reversible GH deficiency, onset of…

  6. Cardiovascular Risk in Growth Hormone Deficiency: Beneficial Effects of Growth Hormone Replacement Therapy.

    PubMed

    Lanes, Roberto

    2016-06-01

    Growth hormone deficiency (GHD) in adulthood is associated with an increased risk of developing adverse cardiovascular events and with reduced life expectancy. Cardiovascular and metabolic abnormalities have so far been evaluated only in a small number of children with GHD and adolescents. In this article we review these abnormalities and their underlying mechanisms and discuss the beneficial effect of growth hormone treatment in subjects with GHD. PMID:27241971

  7. Netherton syndrome associated with growth hormone deficiency.

    PubMed

    Aydın, Banu Küçükemre; Baş, Firdevs; Tamay, Zeynep; Kılıç, Gürkan; Süleyman, Ayşe; Bundak, Rüveyde; Saka, Nurçin; Özkaya, Esen; Güler, Nermin; Darendeliler, Feyza

    2014-01-01

    Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by ichthyosiform scaling, hair abnormalities, and variable atopic features. Mutations in the serine protease inhibitor Kazal type 5 (SPINK5) gene leading to lymphoepithelial Kazal-type-related inhibitor (LEKTI) deficiency cause NS. Growth retardation is a classic feature of NS, but growth hormone (GH) deficiency with subsequent response to GH therapy is not documented in the literature. It is proposed that a lack of inhibition of proteases due to a deficiency of LEKTI in the pituitary gland leads to the overprocessing of human GH in NS. Herein we report three patients with NS who had growth retardation associated with GH deficiency and responded well to GH therapy. PMID:24015757

  8. Usability and Tolerability of the Norditropin NordiFlex® Injection Device in Children Never Previously Treated With Growth Hormone

    ClinicalTrials.gov

    2014-06-23

    Growth Hormone Disorder; Growth Hormone Deficiency in Children; Genetic Disorder; Turner Syndrome; Foetal Growth Problem; Small for Gestational Age; Chronic Kidney Disease; Chronic Renal Insufficiency; Delivery Systems

  9. Climacteric in untreated isolated growth hormone deficiency

    PubMed Central

    Menezes, Menilson; Salvatori, Roberto; Oliveira, Carla R.P.; Pereira, Rossana M.C.; Souza, Anita H.O.; Nobrega, Luciana M.A.; Cruz, Edla do A.C.; Menezes, Marcos; Alves, Érica O.; Aguiar-Oliveira, Manuel H.

    2008-01-01

    Objective To study the time, intensity of symptoms, hormonal profile, and related morbidity of climacteric in women with untreated isolated growth hormone (GH) deficiency (IGHD). Design Women belonging to a large Brazilian kindred with IGHD due to a homozygous mutation in the GH-releasing hormone receptor gene were studied. None of them had ever received GH replacement therapy. A two-step protocol was performed. In the first case-control experiment, aimed to determine the age at climacteric, we compared eight women with IGHD and 32 normal women between 37 and 55 years of age. In the second cross-sectional experiment, aimed to determine the severity of climacteric symptoms, seven women with IGHD (aged 47-65 y) were compared with 13 controls (aged 44-65 y). The Kupperman Index scores, serum follicle-stimulating hormone, luteinizing hormone, prolactin, and estradiol levels were determined, and pelvic and mammary ultrasonography, mammography, and colpocytology were performed. Results The number of women with follicle-stimulating hormone above 20 mIU/mL was higher in women with IGHD than controls. Kupperman’s Index was not different between the two groups. Menarche had been delayed and parity was lower in women with IGHD. Hormonal profile was similar, but prolactin was lower in women with IGHD. Uterine volume was smaller in women with IGHD, and endometrial thickness and ovarian volume were similar in the two groups. No difference in breast images or in colpocytology was observed between the two groups. Conclusions Menarche was delayed and the beginning of climacteric is anticipated in untreated lifetime IGHD, but menopausal symptoms and hormonal profile resemble the normal climacteric. PMID:18223507

  10. [Growth hormone deficiency in the adult: only an endocrinologic problem?].

    PubMed

    Martini, Chiara; Maffei, Pietro; De Carlo, Eugenio; Mioni, Roberto; Sicolo, Nicola; Scandellari, Cesare

    2002-01-01

    In the literature published during the last decade an increased risk of death due to cerebrovascular and cardiovascular events in growth hormone deficient adults has been reported. A partial reversibility of the syndrome following recombinant growth hormone treatment has also been described. Both these factors have contributed to the proposal of growth hormone therapy not only for children but also for adults. Following the initial enthusiasm, the scientific community is now evaluating various clinical experiences held over recent years and weighing up the results. Present day medicine has to take the economic impact of prescribed therapeutic regimens into consideration; in other words the ratio between cost and benefits must be calculated. The relatively recent issuance of the license for the treatment of growth hormone deficiency in adults using recombinant growth hormone does not allow us to evaluate a possible reduction in the risk of death due to cerebrovascular and cardiovascular events in treated subjects. A much longer observational period will be required. Besides the partial reversibility of the syndrome as a consequence of treatment, it is necessary to single out the selection criteria for the choice of treatment. These could also be useful as indicators of the efficacy of the same treatment. PMID:12402662

  11. Borjeson-Forssman-Lehmann syndrome and multiple pituitary hormone deficiency.

    PubMed

    Birrell, G; Lampe, A; Richmond, S; Bruce, S N; Gécz, J; Lower, K; Wright, M; Cheetham, T D

    2003-12-01

    We describe two brothers with Borjeson-Forssman-Lehmann syndrome and the 22A-->T (Lys8X) PHF6 mutation, who presented with the symptoms and signs of multiple pituitary hormone deficiency. Biochemical investigations and radiology confirmed growth hormone (GH), thyroid stimulating hormone (TSH) and adrenocorticotrophic hormone (ACTH) as well as gonadotrophin deficiency. They were also found to have optic nerve hypoplasia. This family suggests that the BFL gene product may play an important role in midline neuro-development including the hypothalamo-pituitary axis. PMID:14714754

  12. Exceptional Association Between Klinefelter Syndrome and Growth Hormone Deficiency

    PubMed Central

    Doubi, Sana; Amrani, Zoubida; Ouahabi, Hanan El; Boujraf, Saïd; Ajdi, Farida

    2015-01-01

    Klinefelter syndrome (KS) is characterized in adults by the combination of a tall stature, small testes, gynecomastia, and azoospermia. This case is described in a North African population of the Mediterranean region of North Africa. We report the case of a male 16 years old, of Arab ethnic origin, and diagnosed with this syndrome, who had a small height in relation to a growth hormone (GH) deficiency and a history of absence seizures (generalized myoclonic epilepsy). The patient's size was <−2.8 standard deviation (SD) with weight <−3 SD. GH deficiency was isolated and confirmed by two dynamic tests (insulin — hypoglycemia tolerance test and clonidine) with normal hypothalamic magnetic resonance imaging (MRI). GH supplementation using recombinant GH was advocated, while gonadotropin treatment was deferred. Small size in children or adolescents should not eliminate the diagnosis of Klinefelter syndrome — on the contrary, the presence of any associated sign (brain maturation, delay in puberty, aggressiveness) should encourage one to request a karyotype for the diagnosis and appropriate care of any case of KS that can be associated with GH deficiency, or which is in a variant form (isochromosome Xq, 49,XXXXY).

  13. Hormonal deficiencies during and after Puumala hantavirus infection.

    PubMed

    Mäkelä, S; Jaatinen, P; Miettinen, M; Salmi, J; Ala-Houhala, I; Huhtala, H; Hurme, M; Pörsti, I; Vaheri, A; Mustonen, J

    2010-06-01

    Previous reports have described panhypopituitarism associated with severe cases of hemorrhagic fever with renal syndrome (HFRS), but the prevalence of hormonal deficiencies after nephropathia epidemica (NE), a milder form of HFRS, has not been studied. This study was conducted in order to determine the prevalence of hormonal defects in patients with acute NE and during long-term follow-up. Fifty-four patients with serologically confirmed acute NE were examined by serum hormonal measurements during the acute NE, after 3 months, and after 1 to 10 (median 5) years. Thirty out of 54 (56%) patients had abnormalities of the gonadal and/or thyroid axis during the acute NE. After a median follow-up of 5 years, 9 (17%) patients were diagnosed with a chronic, overt hormonal deficit: hypopituitarism was found in five patients and primary hypothyroidism in five patients. In addition, chronic subclinical testicular failure was found in five men. High creatinine levels and inflammatory markers during NE were associated with the acute central hormone deficiencies, but not with the chronic deficiencies. Hormonal defects are common during acute NE and, surprisingly, many patients develop chronic hormonal deficiencies after NE. The occurrence of long-term hormonal defects cannot be predicted by the severity of acute NE. PMID:20397036

  14. Growth hormone deficiency during young adulthood and the benefits of growth hormone replacement

    PubMed Central

    Ahmid, M; Perry, C G; Ahmed, S F

    2016-01-01

    Until quite recently, the management of children with growth hormone deficiency (GHD) had focussed on the use of recombinant human GH (rhGH) therapy to normalise final adult height. However, research over the past two decades that has demonstrated deficits in bone health and cardiac function, as well as impaired quality of life in adults with childhood-onset GHD (CO-GHD), has questioned this practice. Some of these studies suggested that there may be short-term benefits of rhGH in certain group of adolescents with GHD during transition, although the impact of GHD and replacement during the transition period has not been adequately investigated and its long-term benefits remain unclear. GH therapy remains expensive and well-designed long-term studies are needed to determine the cost effectiveness and clinical benefit of ongoing rhGH during transition and further into adulthood. In the absence of compelling data to justify widespread continuation of rhGH into adult life, there are several questions related to its use that remain unanswered. This paper reviews the effects of growth hormone deficiency on bone health, cardiovascular function, metabolic profile and quality of life during transition and young adulthood. PMID:27129699

  15. IODIDE DEFICIENCY, THYROID HORMONES, AND NEURODEVELOPMENT

    EPA Science Inventory

    ABSTRACT BODY: Iodide is an essential nutrient for thyroid hormone synthesis. Severe iodide insufficiency during early development is associated with cognitive deficits. Environmental contaminants can perturb the thyroid axis and this perturbation may be more acute under conditio...

  16. Long-term effects of growth hormone (GH) replacement therapy on hematopoiesis in a large cohort of children with GH deficiency.

    PubMed

    Esposito, Andrea; Capalbo, Donatella; De Martino, Lucia; Rezzuto, Martina; Di Mase, Raffaella; Pignata, Claudio; Salerno, Mariacarolina

    2016-07-01

    The aim of our prospective case-control study was to evaluate long-term effects of GH replacement therapy on erythrocytes parameters, leukocytes, and platelets numbers in a large cohort of children with isolated GH deficiency (GHD). Hemoglobin (Hb) concentration, hematocrit (Hct), mean corpuscular volume, mean corpuscular hemoglobin, red cell distribution width, number of erythrocytes, leukocytes, neutrophils, lymphocytes, monocytes and platelets, ferritin, and C-reactive protein were evaluated in 85 children with isolated GHD (10.20 ± 3.50 years) before and annually during the first 5 years of GH replacement therapy and in 85 healthy children age and sex comparable to patients during 5 years of follow-up. Compared with controls, GHD children at study entry showed lower Hb (-1.18 ± 0.87 vs. -0.40 ± 0.90 SDS, p < 0.0001), red cells number (-0.24 ± 0.81 vs. 0.25 ± 1.14 SDS, p < 0.0001), and Hct (-1.18 ± 0.86 vs. -0.68 ± 0.99 SDS, p < 0.0001). Twelve GHD patients (14 %) showed a normocytic anemia. GH therapy was associated with a significant increase in Hb, Hct, and red cells number which became all comparable to controls within the first 2 years of treatment. Moreover, hemoglobin levels normalized in all anemic GHD patients after 5 years of therapy. No difference between patients and controls was found in leukocytes and platelets numbers neither at baseline nor during the study. GHD in childhood is associated with an impairment of erythropoiesis which causes a normocytic anemia in a considerable percentage of patients. GH replacement therapy exerts a beneficial effect leading to a significant increase of erythrocytes parameters and recovery from anemia. Neither GHD nor GH replacement treatment exerts effects on leukocytes or platelets numbers. PMID:26511947

  17. Leptin deficiency in maltreated children

    PubMed Central

    Danese, A; Dove, R; Belsky, D W; Henchy, J; Williams, B; Ambler, A; Arseneault, L

    2014-01-01

    Consistent with findings from experimental research in nonhuman primates exposed to early-life stress, children exposed to maltreatment are at high risk of detrimental physical health conditions, such as obesity and systemic inflammation. Because leptin is a key molecule involved in the regulation of both energy balance and immunity, we investigated abnormalities in leptin physiology among maltreated children. We measured leptin, body mass index and C-reactive protein in 170 12-year-old children members of the Environmental-Risk Longitudinal Twin Study, for whom we had prospectively-collected information on maltreatment exposure. We found that maltreated children exhibited blunted elevation in leptin levels in relation to increasing levels of physiological stimuli, adiposity and inflammation, compared with a group of non-maltreated children matched for gender, zygosity and socioeconomic status. These findings were also independent of key potential artifacts and confounders, such as time of day at sample collection, history of food insecurity, pubertal maturation and depressive symptoms. Furthermore, using birth weight as a proxy measure for leptin, we found that physiological abnormalities were presumably not present at birth in children who went on to be maltreated but only emerged over the course of childhood, after maltreatment exposure. Leptin deficiency may contribute to onset, persistence and progression of physical health problems in maltreated children. PMID:25247591

  18. Cutaneous findings of nutritional deficiencies in children.

    PubMed

    Goskowicz, M; Eichenfield, L F

    1993-08-01

    Nutritional deficiencies may be associated with a variety of cutaneous findings in children. This review emphasizes new developments relating to cutaneous findings of nutritional deficiencies. Zinc deficiency, acrodermatitis enteropathica, and acrodermatitis enteropathica-like eruptions are seen with a variety of conditions including cystic fibrosis, anorexia nervosa, and breastfeeding. Similar cutaneous findings not related to zinc deficiency may also occur with such metabolic disorders as methylmalonic aciduria, multiple carboxylase deficiency, essential fatty acid deficiency and other amino acid deficiencies. Vitamin K deficiency is associated with hemorrhagic disease of the newborn and coagulopathy. Vitamin A deficiency presents with a variety of systemic findings and distinctive dermatologic findings. Acute vitamin A deficiency may be seen in children infected with measles and is associated with more severe disease. The systemic and cutaneous findings of vitamin C deficiency, scurvy, are discussed. PMID:8374671

  19. Mexico City normal weight children exposed to high concentrations of ambient PM2.5 show high blood leptin and endothelin-1, vitamin D deficiency, and food reward hormone dysregulation versus low pollution controls. Relevance for obesity and Alzheimer disease.

    PubMed

    Calderón-Garcidueñas, Lilian; Franco-Lira, Maricela; D'Angiulli, Amedeo; Rodríguez-Díaz, Joel; Blaurock-Busch, Eleonore; Busch, Yvette; Chao, Chih-kai; Thompson, Charles; Mukherjee, Partha S; Torres-Jardón, Ricardo; Perry, George

    2015-07-01

    Millions of Mexico, US and across the world children are overweight and obese. Exposure to fossil-fuel combustion sources increases the risk for obesity and diabetes, while long-term exposure to fine particulate matter (PM2.5) and ozone (O3) above US EPA standards is associated with increased risk of Alzheimer's disease (AD). Mexico City Metropolitan Area children are chronically exposed to PM2.5 and O3 concentrations above the standards and exhibit systemic, brain and intrathecal inflammation, cognitive deficits, and Alzheimer disease neuropathology. We investigated adipokines, food reward hormones, endothelial dysfunction, vitamin D and apolipoprotein E (APOE) relationships in 80 healthy, normal weight 11.1±3.2 year olds matched by age, gender, BMI and SES, low (n: 26) versus high (n:54) PM2.5 exposures. Mexico City children had higher leptin and endothelin-1 (p<0.01 and p<0.000), and decreases in glucagon-like peptide-1 (GLP 1), ghrelin, and glucagon (<0.02) versus controls. BMI and leptin relationships were significantly different in low versus high PM2.5 exposed children. Mexico City APOE 4 versus 3 children had higher glucose (p=0.009). Serum 25-hydroxyvitamin D<30 ng/mL was documented in 87% of Mexico City children. Leptin is strongly positively associated to PM 2.5 cumulative exposures. Residing in a high PM2.5 and O3 environment is associated with 12h fasting hyperleptinemia, altered appetite-regulating peptides, vitamin D deficiency, and increases in ET-1 in clinically healthy children. These changes could signal the future trajectory of urban children towards the development of insulin resistance, obesity, type II diabetes, premature cardiovascular disease, addiction-like behavior, cognitive impairment and Alzheimer's disease. Increased efforts should be made to decrease pediatric PM2.5 exposures, to deliver health interventions prior to the development of obesity and to identify and mitigate environmental factors influencing obesity and Alzheimer

  20. Circulating microRNA profiles and the identification of miR-593 and miR-511 which directly target the PROP1 gene in children with combined pituitary hormone deficiency

    PubMed Central

    HU, YANYAN; WANG, QIAN; WANG, ZENGMIN; WANG, FENGXUE; GUO, XIAOBO; LI, GUIMEI

    2015-01-01

    Since the tissue of children with combined pituitary hormone deficiency (CPHD) is not readily accessible, a new focus in children with CPHD is the blood-based expression profiling of non-protein coding genes, such as microRNAs (miRNAs or miRs), which regulate gene expression by inhibiting the translation of mRNAs. In this study, to address this, we identified potential miRNA signatures for CPHD by comparing genome-wide miRNA expression profiles in the serum of children with CPHD vs. normal (healthy) controls. Human embryonic kidney 293T cells were transfected with miR-593 or miR-511 oligonucleotides. Potential target gene expression was validated by western blot analysis for proteins and by miR-593 or miR-511 reporter assay using PROP1 gene 3′-untranslated region (3′-UTR) reporter. The miR-593 and miR-511 levels in the serum of 103 children with CPHD were assessed using the reverse transcription-quantitative polymerase chain reaction (RT-qPCR) method. We found 23 upregulated and 19 down-regulated miRNAs with abnormal expression in children with CPHD compared with the normal controls using miRNA microarray analysis and RT-qPCR. miR-593 and miR-511 targeted the 3′-UTR of the PROP1 gene and attenuated the expression of PROP1. The levels of miR-593 and miR-511 in the serum of children with CPHD were increased compared with those in the control subjects. According to Youden’s index, the sensitivity was 82.54 and 84.86%, and the specificity was 98.15 and 91.36% for miR-593 and miR-511, respectively. The various levels of specific miRNAs, particularly miR-593 and miR-511 whose direct target is the PROP1 gene, may serve as a non-invasive diagnostic biomarkers for children with CPHD. PMID:25434367

  1. Homoarginine (hArg) and asymmetric dimethylarginine (ADMA) in short stature children without and with growth hormone deficiency: hArg and ADMA are involved differently in growth in the childhood.

    PubMed

    Langen, Jennifer; Kayacelebi, Arslan Arinc; Beckmann, Bibiana; Weigt-Usinger, Katharina; Carmann, Christina; Hörster, Irina; Lilienthal, Eggert; Richter-Unruh, Annette; Tsikas, Dimitrios; Lücke, Thomas

    2015-09-01

    Adult subjects with growth hormone (GH) deficiency (GHD) are known to have reduced life expectancy due to increased cardiovascular and cerebrovascular events. In adults, these events are associated with elevated circulating concentrations of asymmetric dimethylarginine (ADMA) which is an endogenous inhibitor of L-arginine (Arg)-derived nitric oxide (NO). Low circulating concentrations of homoarginine (hArg) emerged as a cardiovascular risk factor. In adults, hArg seems to antagonize ADMA. In the present work, we tested the hypothesis that children with short stature without or with GHD have altered Arg/NO pathway as compared to children with normal growth. We studied 66 short stature children (38 boys, 28 girls) aged 3.5-17.3 years, who underwent the routine L-Arginine Test to diagnose presence of GHD. GHD was confirmed in 47 children (GHD group; 30 boys, 17 girls) and was absent in the remaining 19 children (non-GHD group; 8 boys, 11 girls). In addition, we investigated 24 healthy age- and gender-matched children (10 boys, 14 girls) with normal growth. In EDTA plasma samples of all children, we determined by mass spectrometry-based methods the concentrations of Arg, hArg and ADMA, and calculated the Arg/ADMA and hArg/ADMA molar ratios. With respect to these biochemical parameters, we did not find statistically significant differences between the GHD and non-GHD groups. Comparing short with normal stature children, we found small differences regarding plasma hArg concentrations [mean ± SD; median (25th-75th percentile)]: 2.06 ± 0.52 µM; 2.12 (1.74-2.36) µM vs. 1.7 ± 0.5 µM; 1.6 (1.4-1.8) µM, P < 0.001. Compared to normal stature children, short stature children had considerably higher plasma concentrations of ADMA [0.77 ± 0.15 µM; 0.77 (0.66-0.85) µM vs. 0.57 ± 0.09 µM; 0.58 (0.50-0.63) µM, P < 0.001], but not of Arg [83.3 ± 19.2 µM; 82.2 (71.9-90.3) µM vs. 86.5 ± 17.8 µM; 84.8 (77.2-94.8) µM, P = 0.336], or the hArg/ADMA ratio [2.74 ± 0.76; 2

  2. Iron deficiency anemia in children.

    PubMed

    Subramaniam, Girish; Girish, Meenakshi

    2015-06-01

    Iron deficiency is not just anemia; it can be responsible for a long list of other manifestations. This topic is of great importance, especially in infancy and early childhood, for a variety of reasons. Firstly, iron need is maximum in this period. Secondly, diet in infancy is usually deficient in iron. Thirdly and most importantly, iron deficiency at this age can result in neurodevelopmental and cognitive deficits, which may not be reversible. Hypochromia and microcytosis in a complete blood count (CBC) makes iron deficiency anemia (IDA) most likely diagnosis. Absence of response to iron should make us look for other differential diagnosis like β thalassemia trait and anemia of chronic disease. Celiac disease is the most important cause of true IDA not responding to oral iron therapy. While oral ferrous sulphate is the cheapest and most effective therapy for IDA, simple nonpharmacological and pharmacological measures can go a long way in prevention of iron deficiency. PMID:25636824

  3. Color Vision Deficiencies in Children. United States.

    ERIC Educational Resources Information Center

    National Center for Health Statistics (DHEW/PHS), Hyattsville, MD.

    Presented are prevalence data on color vision deficiencies (color blindness) in noninstitutionalized children, aged 6-11, in the United States, as estimated from the Health Examination Survey findings on a representative sample of over 7,400 children. Described are the two color vision tests used in the survey, the Ishihara Test for Color…

  4. Evaluation of growth hormone release and human growth hormone treatment in children with cranial irradiation-associated short stature

    SciTech Connect

    Romshe, C.A.; Zipf, W.B.; Miser, A.; Miser, J.; Sotos, J.F.; Newton, W.A.

    1984-02-01

    We studied nine children who had received cranial irradiation for various malignancies and subsequently experienced decreased growth velocity. Their response to standard growth hormone stimulation and release tests were compared with that in seven children with classic GH deficiency and in 24 short normal control subjects. With arginine and L-dopa stimulation, six of nine patients who received radiation had a normal GH response (greater than 7 ng/ml), whereas by design none of the GH deficient and all of the normal children had a positive response. Only two of nine patients had a normal response to insulin hypoglycemia, with no significant differences in the mean maximal response of the radiation and the GH-deficient groups. Pulsatile secretion was not significantly different in the radiation and GH-deficient groups, but was different in the radiation and normal groups. All subjects in the GH-deficient and radiation groups were given human growth hormone for 1 year. Growth velocity increased in all, with no significant difference in the response of the two groups when comparing the z scores for growth velocity of each subject's bone age. We recommend a 6-month trial of hGH in children who have had cranial radiation and are in prolonged remission with a decreased growth velocity, as there is no completely reliable combination of GH stimulation or release tests to determine their response.

  5. Growth hormone deficiency in 18q deletion syndrome

    SciTech Connect

    Ghidoni, P.D.; Cody, J.; Danney, J.

    1994-09-01

    The 18q- syndrome is one of the most common chromosomal deletion syndromes. Clinical characteristics are variable but may include: hypotonia, cleft palate, mental retardation and hearing impairment. Growth failure (GF) (<3% weight/height) is present in 80% of affected individuals. We evaluated growth hormone (GH) sufficiency in 15 patients with 18q- syndrome. Of these 15 patients, 10 have growth failure (<3% weight/height); of the remaining 5, 3 had normal growth parameters and 2 had growth along the 5%. Twelve patients failed to produce adequate GH following standard stimulation testing. Of these 12 patients with inadequate GH production, 2 had normal growth (above 3%). Of the 15, only 1 has normal GH production and normal growth parameters. Bone age was obtained on 1 patient with both GH deficiency and GF, and revealed significant delays. GH levels in response to GH releasing factor were normal in 3 out of 4 patients. MRI studies of GH-deficient patients indicated normal midline structures. Myelination in the few studied GH-deficient patients appeared delayed. The gene for myelin basic protein (MBP) is known to be located on the terminal portion of the long arm of chromosome 18. Neither the gene for GH, GH releasing factor nor GH releasing factor receptor is on chromosome 18. These genes are located on chromosomes 17, chromosome 20 and chromosome 7, respectively. Findings to date suggest that GH deficiency is common in individuals with 18q- syndrome. The etiology of this finding is unknown. We postulate that a gene(s) on chromosome 18q is involved in GH expression.

  6. Association of Turner Syndrome and Growth Hormone Deficiency: A Review.

    PubMed

    Marques, Jorge Sales; Aires, Sónia

    2015-09-01

    Turner syndrome (TS) is an important cause of short stature in girls. Patients with TS most often do not have growth hormone deficiency (GHD). Testing GH secretion is not indicated despite the presence of short stature. In the last 20 years only three cases were reported with this association in Pubmed. We describe a case of an 11 year old girl with short stature and karyotype confirmed TS: 45,X(16)46,X,i(X)(ql0)(13). Because her growth velocity was low (-3 SD), we evaluated the GH response with stimulating tests and the results were under the normal range. These findings were compatible with GHD. It is important to check for GHD in patients with TS whenever the growth velocity is low for age and sex. PMID:26540761

  7. Rasch Measurement in the Assessment of Growth Hormone Deficiency in Adult Patients.

    ERIC Educational Resources Information Center

    Prieto, Luis; Roset, Montse; Badia, Xavier

    2001-01-01

    Tested the metric properties of a Spanish version of the Assessment of Growth Hormone Deficiency in Adults (AGHDA) questionnaire through Rasch analysis with a sample of 356 adult patients in Spain. Results suggest that the Spanish AGHDA could be a useful complement of the clinical evaluation of growth hormone deficiency patients at group and…

  8. Adult Growth Hormone Deficiency – Benefits, Side Effects, and Risks of Growth Hormone Replacement

    PubMed Central

    Reed, Mary L.; Merriam, George R.; Kargi, Atil Y.

    2013-01-01

    Deficiency of growth hormone (GH) in adults results in a syndrome characterized by decreased muscle mass and exercise capacity, increased visceral fat, impaired quality of life, unfavorable alterations in lipid profile and markers of cardiovascular risk, decrease in bone mass and integrity, and increased mortality. When dosed appropriately, GH replacement therapy (GHRT) is well tolerated, with a low incidence of side effects, and improves most of the alterations observed in GH deficiency (GHD); beneficial effects on mortality, cardiovascular events, and fracture rates, however, remain to be conclusively demonstrated. The potential of GH to act as a mitogen has resulted in concern over the possibility of increased de novo tumors or recurrence of pre-existing malignancies in individuals treated with GH. Though studies of adults who received GHRT in childhood have produced conflicting reports in this regard, long-term surveillance of adult GHRT has not demonstrated increased cancer risk or mortality. PMID:23761782

  9. Prader-Willi Syndrome and Growth Hormone Deficiency

    PubMed Central

    Aycan, Zehra; Baş, Veysel Nijat

    2014-01-01

    Prader-Willi syndrome (PWS) is a rare multisystem genetic disorder demonstrating great variability with changing clinical features during patient’s life. It is characterized by severe hypotonia with poor sucking and feeding difficulties in early infancy, followed by excessive eating and gradual development of morbid obesity in later infancy or early childhood. The phenotype is most probably due to hypothalamic dysfunction which is also responsible for growth hormone (GH) and thyroid-stimulating hormone (TSH) deficiencies, central adrenal insufficiency and hypogonadism. The multidimensional problems of patients with PWS can be managed with multidisciplinary approach. Reduced GH secretion, low peak GH response to stimulation, decreased spontaneous GH secretion and low serum IGF-1 levels in PWS patients have been documented in many studies. GH therapy has multiple beneficial effects on growth and body composition, motor and mental development in PWS patients. The recommended dosage for GH is 0.5-1 mg/m2/day. GH therapy should not be started in the presence of obstructive sleep apnea syndrome, adenotonsillar hypertrophy, severe obesity and diabetes mellitus. GH treatment should be considered for patients with genetically confirmed PWS in conjunction with dietary, environmental and life-style measures. PMID:24932597

  10. Pharmacokinetics and pharmacodynamics of recombinant human growth hormone by subcutaneous jet- or needle-injection in patients with growth hormone deficiency.

    PubMed

    Houdijk, E C; Herdes, E; Delemarre-Van de Waal, H A

    1997-12-01

    Eighteen growth hormone (GH) deficient children and adolescents (11 6/12-20 9/12 y) participated in a randomized open, two-period (4 weeks) cross-over study to evaluate the pharmacokinetics and pharmacodynamics of recombinant human growth hormone (rhGH) administered daily, either by subcutaneous jet-injection or conventional needle-injection. Plasma growth hormone (GH), insulin-like growth factor 1 (IGF-1), insulin-like growth factor binding protein 3 (IGFBP-3), glucose, insulin, HbAlc and serum-free fatty acids (FFA) levels were analysed repeatedly. GH absorption characteristics, expressed as AUC(0-infinity), Cmax and Tmax ratio (%) jet-injected over needle-injected were similar in both groups. IGF-I and IGFBP-3 plasma levels were identical in both groups. Serum FFA concentrations were comparable after GH administration with either injection device. Surprisingly nocturnal blood glucose decreased to asymptomatic hypoglycaemic levels in all patients. The results of this study showed equal responses concerning absorption and bioavailability of growth hormone administered daily for 4 weeks by either a jet- or a needle-injection device in GH-deficient children and adolescents. PMID:9475305

  11. Managing vitamin D deficiency in children

    PubMed Central

    2010-01-01

    Vitamin D deficiency has been identified in many British children. This condition has many deleterious effects on their health. Taking vitamin D status into account needs to become a daily element of primary care practice, both in antenatal and postnatal situations. It is probable that a significant improvement in reducing chronic diseases in adulthood will result from a more proactive approach in children. PMID:25949615

  12. Facial morphometry of Ecuadorian patients with growth hormone receptor deficiency/Laron syndrome.

    PubMed Central

    Schaefer, G B; Rosenbloom, A L; Guevara-Aguirre, J; Campbell, E A; Ullrich, F; Patil, K; Frias, J L

    1994-01-01

    Facial morphometry using computerised image analysis was performed on patients with growth hormone receptor deficiency (Laron syndrome) from an inbred population of southern Ecuador. Morphometrics were compared for 49 patients, 70 unaffected relatives, and 14 unrelated persons. Patients with growth hormone receptor deficiency showed significant decreases in measures of vertical facial growth as compared to unaffected relatives and unrelated persons with short stature from other causes. This report validates and quantifies the clinical impression of foreshortened facies in growth hormone receptor deficiency. Images PMID:7815422

  13. Efficacy and Safety of Sustained-Release Recombinant Human Growth Hormone in Korean Adults with Growth Hormone Deficiency

    PubMed Central

    Kim, Youngsook; Hong, Jae Won; Chung, Yoon-Sok; Kim, Sung-Woon; Cho, Yong-Wook; Kim, Jin Hwa; Kim, Byung-Joon

    2014-01-01

    Purpose The administration of recombinant human growth hormone in adults with growth hormone deficiency has been known to improve metabolic impairment and quality of life. Patients, however, have to tolerate daily injections of growth hormone. The efficacy, safety, and compliance of weekly administered sustained-release recombinant human growth hormone (SR-rhGH, Declage™) supplement in patients with growth hormone deficiency were evaluated. Materials and Methods This trial is 12-week prospective, single-arm, open-label trial. Men and women aged ≥20 years with diagnosed growth hormone deficiency (caused by pituitary tumor, trauma and other pituitary diseases) were eligible for this study. Each subject was given 2 mg (6 IU) of SR-rhGH once a week, subcutaneously for 12 weeks. Efficacy and safety at baseline and within 30 days after the 12th injection were assessed and compared. Score of Assessment of Growth Hormone Deficiency in Adults (AGHDA score) for quality of life and serum IGF-1 level. Results The IGF-1 level of 108.67±74.03 ng/mL was increased to 129.01±68.37 ng/mL (p=0.0111) and the AGHDA QoL score was decreased from 9.80±6.51 to 7.55±5.76 (p<0.0001) at week 12 compared with those at baseline. Adverse events included pain, swelling, erythema, and warmth sensation at the administration site, but many adverse events gradually disappeared during the investigation. Conclusion Weekly administered SR-rhGH for 12 weeks effectively increased IGF-1 level and improved the quality of life in patients with GH deficiency without serious adverse events. PMID:24954335

  14. Growth Hormone Response after Administration of L-dopa, Clonidine, and Growth Hormone Releasing Hormone in Children with Down Syndrome.

    ERIC Educational Resources Information Center

    Pueschel, Seigfried M.

    1993-01-01

    This study of eight growth-retarded children with Down's syndrome (aged 1 to 6.5 years) found that administration of growth hormone was more effective than either L-dopa or clonidine. Results suggest that children with Down's syndrome have both anatomical and biochemical hypothalamic derangements resulting in decreased growth hormone secretion and…

  15. Development of ovine chorionic somatomammotropin hormone-deficient pregnancies.

    PubMed

    Baker, Callie M; Goetzmann, Lindsey N; Cantlon, Jeremy D; Jeckel, Kimberly M; Winger, Quinton A; Anthony, Russell V

    2016-05-01

    Intrauterine growth restriction (IUGR) is a leading cause of neonatal mortality and morbidity. Chorionic somatomammotropin hormone (CSH), a placenta-specific secretory product found at high concentrations in maternal and fetal circulation throughout gestation, is significantly reduced in human and sheep IUGR pregnancies. The objective of this study was to knock down ovine CSH (oCSH) expression in vivo using lentiviral-mediated short-hairpin RNA to test the hypothesis that oCSH deficiency would result in IUGR of near-term fetal lambs. Three different lentiviral oCSH-targeting constructs were used and compared with pregnancies (n = 8) generated with a scrambled control (SC) lentiviral construct. Pregnancies were harvested at 135 days of gestation. The most effective targeting sequence, "target 6" (tg6; n = 8), yielded pregnancies with significant reductions (P ≤ 0.05) in oCSH mRNA (50%) and protein (38%) concentrations, as well as significant reductions (P ≤ 0.05) in placental (52%) and fetal (32%) weights compared with the SC pregnancies. Fetal liver weights were reduced 41% (P ≤ 0.05), yet fetal liver insulin-like growth factor-I (oIGF1) and -II mRNA concentrations were reduced (P ≤ 0.05) 82 and 71%, respectively, and umbilical artery oIGF1 concentrations were reduced 62% (P ≤ 0.05) in tg6 pregnancies. Additionally, fetal liver oIGF-binding protein (oIGFBP) 2 and oIGFBP3 mRNA concentrations were reduced (P ≤ 0.05), whereas fetal liver oIGFBP1 mRNA concentration was not impacted nor was maternal liver oIGF and oIGFBP mRNA concentrations or uterine artery oIGF1 concentrations (P ≥ 0.10). Based on our results, it appears that oCSH deficiency does result in IUGR, by impacting placental development as well as fetal liver development and function. PMID:26887431

  16. Lead Toxicity and Iron Deficiency in Utah Migrant Children.

    ERIC Educational Resources Information Center

    Ratcliffe, Stephen D.; And Others

    1989-01-01

    Determines the frequency of presumptive iron deficiency and lead toxicity in 198 Utah migrant children, aged 9-72 months. There were no confirmed cases of lead toxicity. Thirteen percent of all children tested, and 30 percent of those aged 9-23 months, were iron deficient. Hematocrit determination is an insensitive screen for iron deficiency.…

  17. [Benefits and risks of growth hormone in adults with growth hormone deficiency].

    PubMed

    Díez, Juan J; Cordido, Fernando

    2014-10-21

    Adult growth hormone (GH) deficiency is a well-recognized clinical syndrome with adverse health consequences. Many of these may improve after replacement therapy with recombinant GH. This treatment induces an increase in lean body mass and a decrease in fat mass. In long-term studies, bone mineral density increases and muscle strength improves. Health-related quality of life tends to increase after treatment with GH. Lipid profile and markers of cardiovascular risk also improve with therapy. Nevertheless, GH replacement therapy is not without risk. According to some studies, GH increases blood glucose, body mass index and waist circumference and may promote long-term development of diabetes and metabolic syndrome. Risk of neoplasia does not appear to be increased in adults treated with GH, but there are some high-risk subgroups. Methodological shortcomings and difficulties inherent to long-term studies prevent definitive conclusions about the relationship between GH and survival. Therefore, research in this field should remain active. PMID:24485161

  18. Absence of serum growth hormone binding protein in patients with growth hormone receptor deficiency (Laron dwarfism)

    SciTech Connect

    Daughaday, W.H.; Trivedi, B.

    1987-07-01

    It has recently been recognized that human serum contains a protein that specifically binds human growth hormone (hGH). This protein has the same restricted specificity for hGH as the membrane-bound GH receptor. To determine whether the GH-binding protein is a derivative of, or otherwise related to, the GH receptor, the authors have examined the serum of three patients with Laron-type dwarfism, a condition in which GH refractoriness has been attributed to a defect in the GH receptor. The binding of /sup 125/I-labeled hGH incubated with serum has been measured after gel filtration of the serum through an Ultrogel AcA 44 minicolumn. Results are expressed as percent of specifically bound /sup 125/I-hGH and as specific binding relative to that of a reference serum after correction is made for endogenous GH. The mean +/- SEM of specific binding of sera from eight normal adults (26-46 years of age) was 21.6 +/- 0.45%, and the relative specific binding was 101.1 +/- 8.6%. Sera from 11 normal children had lower specific binding of 12.5 +/- 1.95% and relative specific binding of 56.6 +/- 9.1%. Sera from three children with Laron-type dwarfism lacked any demonstrable GH binding, whereas sera from 10 other children with other types of nonpituitary short stature had normal relative specific binding. They suggest that the serum GH-binding protein is a soluble derivative of the GH receptor. Measurement of the serum GH-binding protein may permit recognition of other abnormalities of the GH receptor.

  19. Lead toxicity and iron deficiency in Utah migrant children

    SciTech Connect

    Ratcliffe, S.D.; Lee, J.; Lutz, L.J.; Woolley, F.R.; Baxter, S. ); Civish, F. ); Johnson, M. )

    1989-05-01

    The authors determined the frequency of presumptive iron deficiency and lead toxicity in 198 Utah migrant children, ages 9-72 months, during the summer of 1985. There were no confirmed cases of lead toxicity, 13% of those tested and 30% of the children ages 9-23 months were iron deficient. Hematocrit determinations accurately predicted iron deficiency in only 35% of the children confirmed to have this disorder via erythrocyte protoporphyrin screening.

  20. Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

    PubMed Central

    Argente, Jesús; Flores, Raquel; Gutiérrez-Arumí, Armand; Verma, Bhupendra; Martos-Moreno, Gabriel Á; Cuscó, Ivon; Oghabian, Ali; Chowen, Julie A; Frilander, Mikko J; Pérez-Jurado, Luis A

    2014-01-01

    The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations in the RNPC3 gene, which codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein (snRNP) formation and splicing of U12-type introns. We found anomalies in U11/U12 di-snRNP formation and in splicing of multiple U12-type introns in patient cells. Defective transcripts include preprohormone convertases SPCS2 and SPCS3 and actin-related ARPC5L genes, which are candidates for the somatotroph-restricted dysfunction. The reported novel mechanism for familial growth hormone deficiency demonstrates that general mRNA processing defects of the minor spliceosome can lead to very narrow tissue-specific consequences. Subject Categories Genetics, Gene Therapy ' Genetic Disease; Metabolism PMID:24480542

  1. Predicting the Probability of Abnormal Stimulated Growth Hormone Response in Children After Radiotherapy for Brain Tumors

    SciTech Connect

    Hua Chiaho; Wu Shengjie; Chemaitilly, Wassim; Lukose, Renin C.; Merchant, Thomas E.

    2012-11-15

    Purpose: To develop a mathematical model utilizing more readily available measures than stimulation tests that identifies brain tumor survivors with high likelihood of abnormal growth hormone secretion after radiotherapy (RT), to avoid late recognition and a consequent delay in growth hormone replacement therapy. Methods and Materials: We analyzed 191 prospectively collected post-RT evaluations of peak growth hormone level (arginine tolerance/levodopa stimulation test), serum insulin-like growth factor 1 (IGF-1), IGF-binding protein 3, height, weight, growth velocity, and body mass index in 106 children and adolescents treated for ependymoma (n = 72), low-grade glioma (n = 28) or craniopharyngioma (n = 6), who had normal growth hormone levels before RT. Normal level in this study was defined as the peak growth hormone response to the stimulation test {>=}7 ng/mL. Results: Independent predictor variables identified by multivariate logistic regression with high statistical significance (p < 0.0001) included IGF-1 z score, weight z score, and hypothalamic dose. The developed predictive model demonstrated a strong discriminatory power with an area under the receiver operating characteristic curve of 0.883. At a potential cutoff point of probability of 0.3 the sensitivity was 80% and specificity 78%. Conclusions: Without unpleasant and expensive frequent stimulation tests, our model provides a quantitative approach to closely follow the growth hormone secretory capacity of brain tumor survivors. It allows identification of high-risk children for subsequent confirmatory tests and in-depth workup for diagnosis of growth hormone deficiency.

  2. Moral assessment of growth hormone therapy for children with idiopathic short stature.

    PubMed Central

    Verweij, M; Kortmann, F

    1997-01-01

    The prescription of growth hormone therapy for children who are not growth hormone deficient is one of the controversies in contemporary paediatric endocrinology. Is it morally appropriate to enhance the growth, by means of medical treatment, of a child wish idiopathic short stature? The medical, moral, and philosophical questions in this area are many. Data on the effects of human growth hormone (hGH) treatment will not on their own provide us with answers, as these effects have to be evaluated from a normative perspective. In this article we consider hGH treatment for children of idiopathic short stature from three normative perspectives: the goals of medicine, the good of the patient, and the public good. We argue that the prevention of psychological and social problems due to short stature (and not merely the enhancement of growth) should be the ultimate goal of medical treatment and research. PMID:9358351

  3. Severe short stature and Wolf-Hirschhorn syndrome: response to growth hormone in two cases without growth hormone deficiency.

    PubMed

    Austin, Devon E; Gunn, Alistair J; Jefferies, Craig A

    2015-02-01

    Wolf-Hirschhorn syndrome (WHS) is a rare congenital disorder occurring in approximately 1/50 000 births, with marked pre- and postnatal growth failure. WHS results from the hemizygous deletion encompassing the 4p16.3 region. This report of two children with WHS shows that growth hormone treatment in selected children with WHS and severe short stature may have a substantial effect on long-term growth. PMID:25988083

  4. Multiglandular Hormone Deficiency in a Patient with Systemic Capillary Leak Syndrome

    PubMed Central

    Then, Cornelia; Ritzel, Katrin; Seibold, Christa; Mann, Johannes F. E.; Reincke, Martin

    2015-01-01

    Systemic capillary leak syndrome (SCLS) is a rare but potentially fatal disorder characterized by a loss of fluid and proteins into the interstitial space leading to intravascular hypovolemia up to the point of hypovolemic shock. We report the case of a 64-year-old man with SCLS and multiple hormone abnormalities (primary hypothyroidism, hypoadrenalism, and hypogonadism), deficiency of hormone binding globulins, and hypogammaglobulinemia. The patient was successfully treated with intravenous immunoglobulins, theophylline, and terbutaline. Strikingly, with the dissolution of peripheral edema, hormone levels improved. To our knowledge, this is the first reported case of SCLS associated with polyglandular abnormalities. PMID:25685157

  5. Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo.

    PubMed

    Colvin, Stephanie C; Malik, Raleigh E; Showalter, Aaron D; Sloop, Kyle W; Rhodes, Simon J

    2011-01-01

    The etiology of most pediatric hormone deficiency diseases is poorly understood. Children with combined pituitary hormone deficiency (CPHD) have insufficient levels of multiple anterior pituitary hormones causing short stature, metabolic disease, pubertal failure, and often have associated nervous system symptoms. Mutations in developmental regulatory genes required for the specification of the hormone-secreting cell types of the pituitary gland underlie severe forms of CPHD. To better understand these diseases, we have created a unique mouse model of CPHD with a targeted knockin mutation (Lhx3 W227ter), which is a model for the human LHX3 W224ter disease. The LHX3 gene encodes a LIM-homeodomain transcription factor, which has essential roles in pituitary and nervous system development in mammals. The introduced premature termination codon results in deletion of the carboxyl terminal region of the LHX3 protein, which is critical for pituitary gene activation. Mice that lack all LHX3 function do not survive beyond birth. By contrast, the homozygous Lhx3 W227ter mice survive, but display marked dwarfism, thyroid disease, and female infertility. Importantly, the Lhx3 W227ter mice have no apparent nervous system deficits. The Lhx3 W227ter mouse model provides a unique array of hormone deficits and facilitates experimental approaches that are not feasible with human patients. These experiments demonstrate that the carboxyl terminus of the LHX3 transcription factor is not required for viability. More broadly, this study reveals that the in vivo actions of a transcription factor in different tissues are molecularly separable. PMID:21149718

  6. The Relationship Between Gene Polymorphism of Leptin and Leptin Receptor and Growth Hormone Deficiency.

    PubMed

    He, Jinshui; Fang, Yanling; Lin, Xinfu; Zhou, Huowang; Zhu, Shaobo; Zhang, Yugui; Yang, Huicong; Ye, Xiaoling

    2016-01-01

    BACKGROUND Growth hormone deficiency (GHD) is a major cause of congenital short stature. GHD patients have significantly decreased serum leptin levels, which are regulated by gene polymorphism of leptin and leptin receptor. This study thus investigated the relationship between gene polymorphism and susceptibility to GHD. MATERIAL AND METHODS A case-control study was performed using 180 GHD children in addition to 160 healthy controls. After the extraction of whole genomic DNA, the genotypes of leptin and leptin receptor gene loci were analyzed by sequencing for single-nucleotide polymorphism. RESULTS The frequency distribution of all alleles identified in leptin gene (loci rs7799039) and leptin receptor gene (loci rs1137100 and rs1137101) fit Hardy-Weinberg equilibrium. There was a significant difference in allele frequency at loci rs7799039 or rs1137101, as individuals with heterozygous GA allele had lower (rs7799039) or higher (rs1137101) GHD risk. No significant difference in allele frequency was discovered at loci rs1137100 (p>0.05), which was unrelated to GHD susceptibility. CONCLUSIONS Gene polymorphism of leptin (loci rs7799039) and leptin receptor (loci rs1137101) are correlated with GHD susceptibility. PMID:26915772

  7. The Relationship Between Gene Polymorphism of Leptin and Leptin Receptor and Growth Hormone Deficiency

    PubMed Central

    He, Jinshui; Fang, Yanling; Lin, Xinfu; Zhou, Huowang; Zhu, Shaobo; Zhang, Yugui; Yang, Huicong; Ye, Xiaoling

    2016-01-01

    Backgrounds Growth hormone deficiency (GHD) is a major cause of congenital short stature. GHD patients have significantly decreased serum leptin levels, which are regulated by gene polymorphism of leptin and leptin receptor. This study thus investigated the relationship between gene polymorphism and susceptibility to GHD. Material/Methods A case-control study was performed using 180 GHD children in addition to 160 healthy controls. After the extraction of whole genomic DNA, the genotypes of leptin and leptin receptor gene loci were analyzed by sequencing for single-nucleotide polymorphism. Results The frequency distribution of all alleles identified in leptin gene (loci rs7799039) and leptin receptor gene (loci rs1137100 and rs1137101) fit Hardy-Weinberg equilibrium. There was a significant difference in allele frequency at loci rs7799039 or rs1137101, as individuals with heterozygous GA allele had lower (rs7799039) or higher (rs1137101) GHD risk. No significant difference in allele frequency was discovered at loci rs1137100 (p>0.05), which was unrelated to GHD susceptibility. Conclusions Gene polymorphism of leptin (loci rs7799039) and leptin receptor (loci rs1137101) are correlated with GHD susceptibility. PMID:26915772

  8. [Effect of second somatonorm treatment in idiopathic growth hormone deficiency dwarfism].

    PubMed

    Bao, X

    1991-12-01

    Nine previously treated idiopathic growth hormone deficiency children were treated again with recombinant hGH for one year. The dosage and route of administration were the same as those in the previous treatment. The height velocity increased from 1.5 +/- 1.0 cm/year (mean +/- SD) to 9.2 +/- 1.2 cm/year. Compared with the height velocity (10.7 +/- 0.5 cm/a) in the first year treatment, it decreased in the second year (P less than 0.05). The results also showed that the effect was better with a dosage of 0.7 IU/kg/wk divided into 7 s.c. doses than with 0.5 IU/kg/wk divided into 3 i.m. doses. Eight of the 9 cases had low serum T4 after treatment, but no symptoms of hypothyroidism were seen. Anti-hGH antibody was observed in 2 cases, though it did not affect the height velocity. No other side effects were noticed during treatment. PMID:1838961

  9. [Trace elements deficiency in children receiving nutritional management].

    PubMed

    Masumoto, Kouji

    2016-07-01

    The trace elements is very important in growth of children, especially receiving nutritional management, including parenteral or enteral nutrition. Therefore, clinicians treating children should recognize regarding both the function and deficiency of trace elements. In this article, in nutritional management of children, the basic and recent knowledge was described regarding the function of some important trace elements, including zinc, copper, selenium, and iodine. In addition, the symptoms, diagnosis, and treatments in each trace element deficiency were also described. PMID:27455814

  10. Positive correlation of thyroid hormones and serum copper in children with congenital hypothyroidism.

    PubMed

    Blasig, Sarah; Kühnen, Peter; Schuette, Andrea; Blankenstein, Oliver; Mittag, Jens; Schomburg, Lutz

    2016-09-01

    Thyroid hormones are of central relevance for growth and development. However, the underlying molecular mechanisms are still not fully understood. Recent studies in humans and mice have demonstrated that serum levels of selenium (Se) and copper (Cu) are positively affected by thyroid hormones. Given the importance of these trace elements for many biochemical processes, we tested whether this interaction is found in children at risk for hypothyroidism, potentially providing a novel factor contributing to the disturbed development observed in congenital hypothyroidism (CH). We conducted a cross-sectional analysis of 84 children diagnosed with CH displaying a wide range of thyroid hormone concentrations. Serum Se and Cu concentrations were measured by total reflection X-ray fluorescence. Data for thyrotropin (TSH) were available in all, thyroxine (T4) and free thyroxine (fT4) in the majority and triiodothyronine (T3) in 29 of the children. Spearman rank analyzes were performed. Cu and thyroid hormones showed a strong positive correlation (Cu/T4, rho=0.5241, P=0.0003; Cu/T3, rho=0.6003, P=0.0006). Unlike in adults, no associations were found between Se and any of the thyroid hormones. Our data highlight that serum Cu and thyroid hormones are strongly associated already in early postnatal life. Severely hypothyroid children are thus at risk of developing a Cu deficiency if not adequately nourished or supplemented. This finding needs to be verified in larger groups of children in order not to miss an easily-avoidable risk factor for poor development. PMID:27267969

  11. Pros of priming in the diagnosis of growth hormone deficiency.

    PubMed

    Gonc, E Nazli; Ozon, Alev; Alikasifoglu, Ayfer; Kandemir, Nurgun

    2011-01-01

    Priming with sex steroids in stimulation tests for the diagnosis of GHD is still under debate. Most of the data on utility of priming during GH stimulation so far seem to support its use in the diagnosis of GHD in childhood. There is a propensity to treat growth retarded children who test subnormally to stimulation tests with GH. However, some studies analyzing the final height or height gain during GH treatment in such children failed to show any improvement in height. This paper summarizes previous studies on priming to analyze the utility of priming as a valid method to better the diagnostic capacity of the test. PMID:21528807

  12. Iron Deficiency in Preschool Children with Autistic Spectrum Disorders

    ERIC Educational Resources Information Center

    Bilgic, Ayhan; Gurkan, Kagan; Turkoglu, Serhat; Akca, Omer Faruk; Kilic, Birim Gunay; Uslu, Runa

    2010-01-01

    Iron deficiency (ID) causes negative outcomes on psychomotor and behavioral development of infants and young children. Children with autistic spectrum disorders (ASD) are under risk for ID and this condition may increase the severity of psychomotor and behavioral problems, some of which already inherently exist in these children. In the present…

  13. Glucose-6-phosphate dehydrogenase deficiency in Nigerian children.

    PubMed

    Williams, Olatundun; Gbadero, Daniel; Edowhorhu, Grace; Brearley, Ann; Slusher, Tina; Lund, Troy C

    2013-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy and in Sub-Saharan Africa, is a significant cause of infection- and drug-induced hemolysis and neonatal jaundice. Our goals were to determine the prevalence of G6PD deficiency among Nigerian children of different ethnic backgrounds and to identify predictors of G6PD deficiency by analyzing vital signs and hematocrit and by asking screening questions about symptoms of hemolysis. We studied 1,122 children (561 males and 561 females) aged 1 month to 15 years. The mean age was 7.4 ± 3.2 years. Children of Yoruba ethnicity made up the largest group (77.5%) followed by those Igbo descent (10.6%) and those of Igede (10.2%) and Tiv (1.8%) ethnicity. G6PD status was determined using the fluorescent spot method. We found that the overall prevalence of G6PD deficiency was 15.3% (24.1% in males, 6.6% in females). Yoruba children had a higher prevalence (16.9%) than Igede (10.5%), Igbo (10.1%) and Tiv (5.0%) children. The odds of G6PD deficiency were 0.38 times as high in Igbo children compared to Yoruba children (p=0.0500). The odds for Igede and Tiv children were not significantly different from Yoruba children (p=0.7528 and 0.9789 respectively). Mean oxygen saturation, heart rate and hematocrit were not significantly different in G6PD deficient and G6PD sufficient children. The odds of being G6PD deficient were 2.1 times higher in children with scleral icterus than those without (p=0.0351). In conclusion, we determined the prevalence of G6PD deficiency in Nigerian sub-populations. The odds of G6PD deficiency were decreased in Igbo children compared to Yoruba children. There was no association between vital parameters or hematocrit and G6PD deficiency. We found that a history of scleral icterus may increase the odds of G6PD deficiency, but we did not exclude other common causes of icterus such as sickle cell disease or malarial infection. PMID:23874768

  14. Isolated Adrenocorticotropic Hormone or Thyrotropin Deficiency Following Mild Traumatic Brain Injury: Three Cases with Long-Term Follow-Up

    PubMed Central

    Baek, Cho-Ok; Kim, Yu Ji; Kim, Ji Hye

    2015-01-01

    Few studies have examined the clinical features and long-term outcomes of isolated pituitary hormone deficiencies after traumatic brain injury (TBI). Such deficiencies typically present at time intervals after TBI, especially after mild injuries such as concussions, which makes their diagnosis difficult without careful history taking. It is necessary to improve diagnosis and prevent life threatening or morbid conditions such as those that may occur in deficiencies of adrenocorticotropic hormone (ACTH) or thyroid-stimulating hormone (as known as thyrotropin, TSH), the two most important pituitary hormones in hypopituitarism treatment. Here, we report two cases of isolated ACTH deficiency and one case of isolated TSH deficiency. These patients presented at different time points after concussion and underwent long-term follow-ups. PMID:27169080

  15. Iron deficiency anemia from diagnosis to treatment in children.

    PubMed

    Özdemir, Nihal

    2015-03-01

    Iron deficiency is the most common nutritional deficiency worldwide and an important public health problem especially in developing countries. Since the most important indicator of iron deficieny is anemia, the terms "iron deficiency" and "iron deficiency anemia" are often used interchangeably. However, iron deficiency may develop in the absence of anemia and the tissues may be affected from this condition. The most common causes of iron deficiency in children include insufficient intake together with rapid growth, low birth weight and gastrointestinal losses related to excessive intake of cow's milk. If insufficient intake can be excluded and there is insufficient response to oral iron treatment in patients with iron deficiency especially in older children, blood loss should be considered as the underlying cause. The main principles in management of iron deficiency anemia include investigation and elimination of the cause leading to iron deficiency, replacement of deficiency, improvement of nutrition and education of the patient and family. In this article, the practical approaches in the diagnosis and treatment of iron deficiency and the experience of our center have been reviewed. PMID:26078692

  16. Iodine Deficiency in School Children in Aligarh District, India.

    PubMed

    Aslami, Ahmad Nadeem; Ansari, Mohammed A; Khalique, N; Kapil, Umesh

    2016-08-01

    We carried out this study to assess iodine deficiency disorders among school children of 6-12 years age group in Aligarh district of India. The prevalence of goiter was 5.2%. Median Urinary Iodine Excretion level was 150 ug/L; 22.5% of students had biochemical iodine deficiency. 50.4% households were consuming adequately iodized salt. PMID:27567653

  17. Iron deficiency anemia from diagnosis to treatment in children

    PubMed Central

    Özdemir, Nihal

    2015-01-01

    Iron deficiency is the most common nutritional deficiency worldwide and an important public health problem especially in developing countries. Since the most important indicator of iron deficieny is anemia, the terms “iron deficiency” and “iron deficiency anemia” are often used interchangeably. However, iron deficiency may develop in the absence of anemia and the tissues may be affected from this condition. The most common causes of iron deficiency in children include insufficient intake together with rapid growth, low birth weight and gastrointestinal losses related to excessive intake of cow’s milk. If insufficient intake can be excluded and there is insufficient response to oral iron treatment in patients with iron deficiency especially in older children, blood loss should be considered as the underlying cause. The main principles in management of iron deficiency anemia include investigation and elimination of the cause leading to iron deficiency, replacement of deficiency, improvement of nutrition and education of the patient and family. In this article, the practical approaches in the diagnosis and treatment of iron deficiency and the experience of our center have been reviewed. PMID:26078692

  18. A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes.

    PubMed

    Takagi, Masaki; Takahashi, Mai; Ohtsu, Yoshiaki; Sato, Takeshi; Narumi, Satoshi; Arakawa, Hirokazu; Hasegawa, Tomonobu

    2016-04-25

    Heterozygous and/or homozygous HESX1 mutations have been reported to cause isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD), in association with septo optic dysplasia (SOD). We report a novel heterozygous HESX1 mutation in a CPHD patient without SOD phenotypes. The propositus was a one-year-old Japanese girl. Shortly after birth, she was found to be hypoglycemic. She was diagnosed with central adrenal insufficiency based on low cortisol and ACTH at a time of severe hypoglycemia. Further endocrine studies indicated that the patient also had central hypothyroidism and growth hormone deficiency. Using a next-generation sequencing strategy, we identified a novel heterozygous HESX1 mutation, c.326G>A (p.Arg109Gln). Western blotting and subcellular localization revealed no significant difference between wild type and mutant HESX1. Electrophoretic mobility shift assays showed that the mutant HESX1 abrogated DNA-binding ability. Mutant HESX1 was unable to repress PROP1-mediated activation. In conclusion, this study identified Arg109 as a critical residue in the HESX1 protein and extends our understanding of the phenotypic features, molecular mechanism, and developmental course associated with mutations in HESX1. When multiple genes need to be analyzed for mutations simultaneously, targeted sequence analysis of interesting genomic regions is an attractive approach. PMID:26781211

  19. Placenta Passage of the Thyroid Hormone Analog DITPA to Male Wild-Type and Mct8-Deficient Mice

    PubMed Central

    Ferrara, Alfonso Massimiliano; Liao, Xiao-Hui; Gil-Ibáñez, Pilar; Bernal, Juan; Weiss, Roy E.; Dumitrescu, Alexandra M.

    2014-01-01

    Monocarboxylate transporter 8 (MCT8) deficiency causes severe X-linked intellectual and neuropsychological impairment associated with abnormal thyroid function tests (TFTs) producing thyroid hormone (TH) deprivation in brain and excess in peripheral tissues. The TH analog diiodothyropropionic acid (DITPA) corrected the TFTs abnormalities and hypermetabolism of MCT8-deficient children but did not improve the neurological phenotype. The latter result was attributed to the late initiation of treatment. Therefore, we gave DITPA to pregnant mice carrying Mct8-deficient embryos to determine whether DITPA, when given prenatally, crosses the placenta and affects the serum TFTs and cerebral cortex of embryos. After depletion of the endogenous TH, Mct8-heterozygous pregnant dams carrying both wild-type (Wt) and Mct8-deficient (Mct8KO) male embryos were given DITPA. Effects were compared with those treated with levothyroxine (L-T4). With DITPA treatment, serum DITPA concentration was not different in the two genotypes, which produced equal effect on serum TSH levels in both groups of pups. In contrast, with L-T4 treatment, TSH did not normalize in Mct8KO pups whereas it did in the Wt littermates and dams despite higher concentration of serum T4. Finally, both treatments similarly modulated the expression of the TH-dependent genes Shh, Klf9, and Aldh1a3 in brain. Thus, the ability of DITPA to cross the placenta, its thyromimetic action on the expression of TH-dependent genes in brain, and its better accessibility to the pituitary than L-T4, as assessed by serum TSH, make DITPA a candidate for the prenatal treatment of MCT8 deficiency. PMID:25051435

  20. Dose-Response Analysis of Developmental Iodide Deficiency: Reductions in Thyroid Hormones and Impaired Hippocampal Synaptic Transmission

    EPA Science Inventory

    Iodide is an essential nutrient for thyroid hormone synthesis and severe iodide deficiency (ID) during early development is associated with neurological impairments. Several environmental contaminants can perturb the thyroid axis and this perturbation may be more acute under cond...

  1. Overview of Inherited Zinc Deficiency in Infants and Children.

    PubMed

    Kambe, Taiho; Fukue, Kazuhisa; Ishida, Riko; Miyazaki, Shiho

    2015-01-01

    Zinc nutrition is of special practical importance in infants and children. Poor zinc absorption causes zinc deficiency, which leads to a broad range of consequences such as alopecia, diarrhea, skin lesions, taste disorders, loss of appetite, impaired immune function and neuropsychiatric changes and growth retardation, thus potentially threatening life in infants and children. In addition to dietary zinc deficiency, inherited zinc deficiency, which rarely occurs, is found during the infant stage and early childhood. Recent molecular genetic studies have identified responsible genes for two inherited zinc deficiency disorders, acrodermatitis enteropathica (AE) and transient neonatal zinc deficiency (TNZD), clarifying the pathological mechanisms. Both of these zinc deficiencies are caused by mutations of zinc transporters, although the mechanisms are completely different. AE is an autosomal recessive disorder caused by mutations of the ZIP4 gene, consequently resulting in defective absorption of zinc in the small intestine. In contrast, TNZD is a disorder caused by mutations of the ZnT2 gene, which results in low zinc breast milk in the mother, consequently causing zinc deficiency in the breast-fed infant. In both cases, zinc deficiency symptoms are ameliorated by a daily oral zinc supplementation for the patients. Zinc is definitely one of the key factors for the healthy growth of infants and children, and thus zinc nutrition should receive much attention. PMID:26598882

  2. Effects of aerobic exercise on ectopic lipids in patients with growth hormone deficiency before and after growth hormone replacement therapy

    PubMed Central

    Christ, Emanuel R.; Egger, Andrea; Allemann, Sabin; Buehler, Tania; Kreis, Roland; Boesch, Chris

    2016-01-01

    Growth hormone replacement therapy (GHRT) increases exercise capacity and insulin resistance while it decreases fat mass in growth hormone-deficient patients (GHD). Ectopic lipids (intramyocellular (IMCL) and intrahepatocellular lipids (IHCL) are related to insulin resistance. The effect of GHRT on ectopic lipids is unknown. It is hypothesized that exercise-induced utilization of ectopic lipids is significantly decreased in GHD patients and normalized by GHRT. GHD (4 females, 6 males) and age/gender/waist-matched control subjects (CS) were studied. VO2max was assessed on a treadmill and insulin sensitivity determined by a two-step hyperinsulinaemic-euglycaemic clamp. Visceral (VAT) and subcutaneous (SAT) fat were quantified by MR-imaging. IHCL and IMCL were measured before and after a 2 h exercise at 50–60% of VO2max using MR-spectroscopy (∆IMCL, ∆IHCL). Identical investigations were performed after 6 months of GHRT. VO2max was similar in GHD and CS and significantly increased after GHRT; GHRT significantly decreased SAT and VAT. 2 h-exercise resulted in a decrease in IMCL (significant in CS and GHRT) and a significant increase in IHCL in CS and GHD pre and post GHRT. GHRT didn’t significantly impact on ∆IMCL and ∆IHCL. We conclude that aerobic exercise affects ectopic lipids in patients and controls. GHRT increases exercise capacity without influencing ectopic lipids. PMID:26792091

  3. Lymphocyte subset distribution and natural killer activity in growth hormone deficiency before and during short-term treatment with growth hormone releasing hormone.

    PubMed

    Kiess, W; Malozowski, S; Gelato, M; Butenand, O; Doerr, H; Crisp, B; Eisl, E; Maluish, A; Belohradsky, B H

    1988-07-01

    Natural killer (NK) cell activity was assessed in the peripheral blood of 20 patients with growth hormone (GH) deficiency due to a hypothalamic deficit of GH-releasing hormone (GHRH). All patients failed to respond to at least two provocative tests of GH secretion (GH below 7 ng/ml) but responded to a single GHRH iv bolus injection (1 microgram/kg body wt). In 14 of the 20 patients (20 determinations), lymphocyte subsets were also measured; in all patients the distribution of lymphocyte subsets was within the normal range. More importantly, NK cell activity in the 20 patients was significantly lower than in controls (P less than 0.01). To assess the in vivo effect of GH and GHRH on NK activity and lymphocyte subset distribution, immunologic tests were performed (i) before and after a single iv bolus injection of GHRH (1 microgram/kg body wt) in six patients; (ii) before and after 3 weeks of GHRH treatment (3-9 micrograms/kg body wt, one to four times daily) in five patients; and (iii) after 6 weeks of GH treatment (5 IU sc every alternate day) in one patient. Neither NK activity nor the distribution of lymphocyte subsets was altered during short-term GHRH administration. In conclusion, low NK activity is found in GH-deficient patients, and short-term administration of GH or GHRH fails to restore this immunological abnormality. This result suggests that the hypothalamus may be a regulator of NK activity in the human and that patients with hypothalamic deficiencies should be monitored for the development of discrete immunodeficiencies. PMID:3133146

  4. Deficiency of antidiuretic hormone: a rare cause of massive polyuria after kidney transplantation

    PubMed Central

    Jang, Kyung Mi; Sohn, Young Soo; Hwang, Young Ju; Choi, Bong Seok

    2016-01-01

    A 15-year-old boy, who was diagnosed with Alport syndrome and end-stage renal disease, received a renal transplant from a living-related donor. On postoperative day 1, his daily urine output was 10,000 mL despite normal graft function. His laboratory findings including urine, serum osmolality, and antidiuretic hormone levels showed signs similar to central diabetes insipidus, so he was administered desmopressin acetate nasal spray. After administering the desmopressin, urine specific gravity and osmolality increased abruptly, and daily urine output declined to the normal range. The desmopressin acetate was tapered gradually and discontinued 3 months later. Graft function was good, and urine output was maintained within the normal range without desmopressin 20 months after the transplantation. We present a case of a massive polyuria due to transient deficiency of antidiuretic hormone with the necessity of desmopressin therapy immediately after kidney transplantation in a pediatric patient. PMID:27186232

  5. Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

    PubMed

    Vurallı, Doğuş; Gönç, Nazlı; Vidaud, Dominique; Özön, Alev; Alikaşifoğlu, Ayfer; Kandemir, Nurgün

    2016-03-01

    Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which shows the features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS). While growth hormone deficiency (GHD) has been relatively frequently identified in NF1 and NS patients, there is limited experience in NFNS cases. The literature includes only one case report of a NFNS patient having GHD and that report primarily focuses on the dermatological lesions that accompany the syndrome and not on growth hormone (GH) treatment. Here, we present a 13-year-old girl who had clinical features of NFNS with a mutation in the NF1 gene. The case is the first NFNS patient reported in the literature who was diagnosed to have GHD and who received GH treatment until reaching final height. The findings in this patient show that short stature is a feature of NFNS and can be caused by GHD. Patients with NFNS who show poor growth should be evaluated for GHD. PMID:26758488

  6. Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome

    PubMed Central

    Vurallı, Doğuş; Gönç, Nazlı; Vidaud, Dominique; Özön, Alev; Alikaşifoğlu, Ayfer; Kandemir, Nurgün

    2016-01-01

    Neurofibromatosis-Noonan syndrome (NFNS) is a distinct entity which shows the features of both NF1 (neurofibromatosis 1) and Noonan syndrome (NS). While growth hormone deficiency (GHD) has been relatively frequently identified in NF1 and NS patients, there is limited experience in NFNS cases. The literature includes only one case report of a NFNS patient having GHD and that report primarily focuses on the dermatological lesions that accompany the syndrome and not on growth hormone (GH) treatment. Here, we present a 13-year-old girl who had clinical features of NFNS with a mutation in the NF1 gene. The case is the first NFNS patient reported in the literature who was diagnosed to have GHD and who received GH treatment until reaching final height. The findings in this patient show that short stature is a feature of NFNS and can be caused by GHD. Patients with NFNS who show poor growth should be evaluated for GHD. PMID:26758488

  7. Deficiency of antidiuretic hormone: a rare cause of massive polyuria after kidney transplantation.

    PubMed

    Jang, Kyung Mi; Sohn, Young Soo; Hwang, Young Ju; Choi, Bong Seok; Cho, Min Hyun

    2016-04-01

    A 15-year-old boy, who was diagnosed with Alport syndrome and end-stage renal disease, received a renal transplant from a living-related donor. On postoperative day 1, his daily urine output was 10,000 mL despite normal graft function. His laboratory findings including urine, serum osmolality, and antidiuretic hormone levels showed signs similar to central diabetes insipidus, so he was administered desmopressin acetate nasal spray. After administering the desmopressin, urine specific gravity and osmolality increased abruptly, and daily urine output declined to the normal range. The desmopressin acetate was tapered gradually and discontinued 3 months later. Graft function was good, and urine output was maintained within the normal range without desmopressin 20 months after the transplantation. We present a case of a massive polyuria due to transient deficiency of antidiuretic hormone with the necessity of desmopressin therapy immediately after kidney transplantation in a pediatric patient. PMID:27186232

  8. Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism.

    PubMed

    Ilias, Chatziioannidis; Evgenia, Babatseva; Aikaterini, Patsatsi; Asimina, Galli-Tsinopoulou; Constantina, Sarri; Maria, Lithoxopoulou; George, Mitsiakos; Paraskevi, Karagianni; Christos, Tsakalidis; Zissis, Mamuris; Nikolaos, Nikolaidis

    2015-01-01

    Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections, transient hyperaldosteronism, and signs of growth hormone (GH) deficiency. DNA molecular analysis in the SPINK5 gene revealed heterozygosity in our index patient for 238insG and 2468delA frameshift mutations in exons 4 and 26, respectively, in the maternal allele and 1431-12G>A splice-site mutation in intron 15 in the paternal allele as well as the missense variation E420K in homozygous state. Combination of the identified mutations along with transient hyperaldosteronism and possible GH deficiency have not been described before. Accordingly, the importance of early multidisciplinary approach is highlighted, in order to reach accurate diagnosis, initiate prompt treatment, and ensure survival with fewer disease complications. PMID:26229701

  9. Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism

    PubMed Central

    Ilias, Chatziioannidis; Evgenia, Babatseva; Aikaterini, Patsatsi; Asimina, Galli-Tsinopoulou; Constantina, Sarri; Maria, Lithoxopoulou; George, Mitsiakos; Paraskevi, Karagianni; Christos, Tsakalidis; Zissis, Mamuris; Nikolaos, Nikolaidis

    2015-01-01

    Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections, transient hyperaldosteronism, and signs of growth hormone (GH) deficiency. DNA molecular analysis in the SPINK5 gene revealed heterozygosity in our index patient for 238insG and 2468delA frameshift mutations in exons 4 and 26, respectively, in the maternal allele and 1431-12G>A splice-site mutation in intron 15 in the paternal allele as well as the missense variation E420K in homozygous state. Combination of the identified mutations along with transient hyperaldosteronism and possible GH deficiency have not been described before. Accordingly, the importance of early multidisciplinary approach is highlighted, in order to reach accurate diagnosis, initiate prompt treatment, and ensure survival with fewer disease complications. PMID:26229701

  10. Effect of perinatal thyroid hormone deficiency on expression of rat hippocampal conventional protein kinase C isozymes.

    PubMed

    Zhang, Hong-Mei; Lin, Ning; Dong, Yan; Su, Qing; Luo, Min

    2011-07-01

    Thyroid hormone (TH) is essential for the proper development of mammalian central nervous system. TH deficiency during critical period of brain development results in permanent cognitive and neurological impairments. Hippocampus is a structure involved in various memory processes that are essential for creating new memories, and lesions to hippocampus result in impaired learning and memory. Protein kinase C (PKC) isoforms play an important role in many types of learning and memory, and deletion of specific PKC genes results in deficits in learning. In the present study, we used real-time PCR and Western blot to investigate the conventional PKC expression in developing rat hippocampus with different thyroid status, trying to establish a correlation between TH deficiency and conventional PKC expression in developing rat hippocampus. We found that PKCβI and PKCγ expression decreased significantly both in mRNA and protein levels in hypothyroid group compared with the normal controls, and thyroxine replacement could restore it. As for PKCα, we did not find any difference between different thyroid status. Though the expression of PKCβII also decreased in the TH deficiency group, the change was not significant. Taken together, our data indicate TH deficiency can cause hippocampal PKCβ1 and PKCγ downregulation during rat brain development. Since there are other PKC isoforms in the rat brain, whether these change is related to impaired learning and memory of perinatal hypothyroid rats requires further researches. PMID:21424759

  11. The Influence of Alcohol Consumption in Conjunction with Sex Hormone Deficiency on Ca/P Ratio in Rats

    PubMed Central

    Lodi, Karina Bortolin; Marchini, Adriana Mathias Pereira da Silva; Santo, Ana Maria do Espírito; Rode, Sigmar de Mello; Marchini, Leonardo; da Rocha, Rosilene Fernandes

    2016-01-01

    Deficiency of sex hormones and excessive alcohol consumption are factors that have been related to alterations in the pattern of bone mineralization and osteoporosis. The aim of this study was to evaluate possible alterations in the calcium/phosphorus (Ca/P) ratio in the femur of rats subjected to sex hormone deficiency and/or alcohol consumption. Methods. Female and male Wistar rats (n = 108) were divided into ovariectomized (Ovx), orchiectomized (Orx), or sham-operated groups and subdivided according to diet: alcoholic diet (20% alcohol solution), isocaloric diet, and ad libitum diet. The diets were administered for 8 weeks. The Ca/P ratio in the femur was analyzed by energy dispersive micro-X-ray spectrometer (μEDX). Results. Consumption of alcohol reduced the Ca/P ratio in both females and males. The isocaloric diet reduced the Ca/P ratio in females. In groups with the ad libitum diet, the deficiency of sex hormones did not change the Ca/P ratio in females or males. However, the combination of sex hormone deficiency and alcoholic diet presented the lowest values for the Ca/P ratio in both females and males. Conclusions. There was a reduced Ca/P ratio in the femur of rats that consumed alcohol, which was exacerbated when combined with a deficiency of sex hormones. PMID:27073396

  12. A polymorphism in the leptin receptor gene at position 223 is associated with growth hormone replacement therapy responsiveness in idiopathic short stature and growth hormone deficiency patients.

    PubMed

    Su, Pen-Hua; Yang, Shun-Fa; Yu, Ju-Shan; Chen, Suh-Jen; Chen, Jia-Yuh

    2012-12-01

    We hypothesized that responses to growth hormone (GH) therapy by idiopathic short stature (ISS) and growth hormone deficiency (GHD) patients were associated with single nucleotide polymorphisms (SNPs) in the leptin (LEP) and leptin receptor (LEPR) genes. We retrospectively enrolled ISS (n = 32) and GHD (n = 38) patients and forty healthy age-and gender-matched children. They were genotyped for the LEP promoter at nt.-2548, and LEPR K109R and LEPR Q223R polymorphisms. Clinical and laboratory variables were determined before and after 2 years of GH treatment. ISS patients with G/A or A/A genotypes of the LEPR Q223R SNP had a significantly higher height velocity (cm/y) than ISS patients with the G/G genotype at 2 years after GH treatment. For GHD patients, G/A or A/A genotype of the LEPR K109R SNP was associated with higher body weight, higher BMI, and higher weight velocity than patients with the G/G genotype before GH treatment, but not after GH treatment. G/A or A/A genotype of the LEPR Q223R SNP was associated with a significantly higher body weight, higher height velocity before treatment, but not after GH treatment. G/A or A/A genotype of the LEPR Q223R SNP was associated with a significantly higher weight velocity before treatment, but a significantly lower weight velocity was found at 2 years after GH treatment. These results suggest LEPR Q223R SNP (rs1137101) is associated with outcomes of GH replacement therapy in ISS and GHD patients. PMID:23009903

  13. Microarchitecture, but Not Bone Mechanical Properties, Is Rescued with Growth Hormone Treatment in a Mouse Model of Growth Hormone Deficiency

    PubMed Central

    Kristensen, Erika; Hallgrímsson, Benedikt; Morck, Douglas W.; Boyd, Steven K.

    2012-01-01

    Growth hormone (GH) deficiency is related to an increased fracture risk although it is not clear if this is due to compromised bone quality or a small bone size. We investigated the relationship between bone macrostructure, microarchitecture and mechanical properties in a GH-deficient (GHD) mouse model undergoing GH treatment commencing at an early (prepubertal) or late (postpubertal) time point. Microcomputed tomography images of the femur and L4 vertebra were obtained to quantify macrostructure and vertebral trabecular microarchitecture, and mechanical properties were determined using finite element analyses. In the GHD animals, bone macrostructure was 25 to 43% smaller as compared to the GH-sufficient (GHS) controls (P < 0.001). GHD animals had 20% and 19% reductions in bone volume ratio (BV/TV) and trabecular thickness (Tb.Th), respectively. Whole bone mechanical properties of the GHD mice were lower at the femur and vertebra (67% and 45% resp.) than the GHS controls (P < 0.001). Both early and late GH treatment partially recovered the bone macrostructure (15 to 32 % smaller than GHS controls) and the whole bone mechanical properties (24 to 43% larger than GHD animals) although there remained a sustained 27–52% net deficit compared to normal mice (P < 0.05). Importantly, early treatment with GH led to a recovery of BV/TV and Tb.Th with a concomitant improvement of trabecular mechanical properties. Therefore, the results suggest that GH treatment should start early, and that measurements of microarchitecture should be considered in the management of GHD. PMID:22505889

  14. Growth hormone secretagogue receptor deficiency in mice protects against obesity‐induced hypertension

    PubMed Central

    Harris, Louise E.; Morgan, David G.; Balthasar, Nina

    2014-01-01

    Abstract Growth hormone secretagogue receptor (GHS‐R) signaling has been associated with growth hormone release, increases in food intake and pleiotropic cardiovascular effects. Recent data demonstrated that acute GHS‐R antagonism leads to increases in mean arterial pressure mediated by the sympathetic nervous system in rats; a highly undesirable effect if GHS‐R antagonism was to be used as a therapeutic approach to reducing food intake in an already obese, hypertensive patient population. However, our data in conscious, freely moving GHS‐R deficient mice demonstrate that chronic absence of GHS‐R signaling is protective against obesity‐induced hypertension. GHS‐R deficiency leads to reduced systolic blood pressure variability (SBPV); in response to acute high‐fat diet (HFD)‐feeding, increases in the sympathetic control of SBPV are suppressed in GHS‐R KO mice. Our data further suggest that GHS‐R signaling dampens the immediate HFD‐mediated increase in spontaneous baroreflex sensitivity. In diet‐induced obesity, absence of GHS‐R signaling leads to reductions in obesity‐mediated hypertension and tachycardia. Collectively, our findings thus suggest that chronic blockade of GHS‐R signaling may not result in adverse cardiovascular effects in obesity. PMID:24760503

  15. The epidemiology of iodine-deficiency disorders in relation to goitrogenic factors and thyroid-stimulating-hormone regulation.

    PubMed

    Thilly, C H; Swennen, B; Bourdoux, P; Ntambue, K; Moreno-Reyes, R; Gillies, J; Vanderpas, J B

    1993-02-01

    In children aged 5-7 y from goiter-endemic areas in Ubangi, Zaire, and Ntcheu, Malawi, mean serum thyroxin (T4) concentrations were 53 +/- 49 vs 81 +/- 33 nmol/L (P < 0.05), and thyroid-stimulating hormone (TSH) values were 24.3 +/- 9.6 vs 4.5 +/- 3.3 mU/L respectively (P < 0.01); mean urinary iodine concentrations were 0.14 +/- 0.02 vs 0.09 +/- 0.02 mumol/L, and mean thiocyanate concentrations were 0.33 +/- 0.05 vs 0.17 +/- 0.05 nmol/L, respectively (P < 0.05). Mean serum selenium concentrations were 0.343 +/- 0.176 mumol/L in Ubangi and 0.437 +/- 0.178 mumol/L in Ntcheu (P < 0.05). In two groups of 11 adolescent girls from Ubangi, the mean values for excretion of urinary iodine were 1.31 +/- 0.14 and 0.58 +/- 0.17 mumol/L (P < 0.05) after a meal of cassava or a control meal of rice, respectively. In euthyroid subjects from Ubangi, mean serum TSH for a given serum T4 was approximately twice as high for children aged < 15 y than for those aged 16-25 y. The high frequency of myxedematous cretins observed in Ubangi very probably result from both severe iodine and selenium deficiency together with thiocyanate overload. PMID:8427202

  16. The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency.

    PubMed

    Ferrara, Alfonso Massimiliano; Liao, Xiao-Hui; Ye, Honggang; Weiss, Roy E; Dumitrescu, Alexandra M; Refetoff, Samuel

    2015-11-01

    Mutations in the gene encoding the thyroid hormone (TH) transporter, monocarboxylate transporter 8 (MCT8), cause mental retardation in humans associated with a specific thyroid hormone phenotype manifesting high serum T3 and low T4 and rT3 levels. Moreover, these patients have failure to thrive, and physiological changes compatible with thyrotoxicosis. Recent studies in Mct8-deficient (Mct8KO) mice revealed that the high serum T3 causes increased energy expenditure. The TH analog, diiodothyropropionic acid (DITPA), enters cells independently of Mct8 transport and shows thyromimetic action but with a lower metabolic activity than TH. In this study DITPA was given daily ip to adult Mct8KO mice to determine its effect on thyroid tests in serum and metabolism (total energy expenditure, respiratory exchange rate, and food and water intake). In addition, we measured the expression of TH-responsive genes in the brain, liver, and muscles to assess the thyromimetic effects of DITPA. Administration of 0.3 mg DITPA per 100 g body weight to Mct8KO mice brought serum T3 levels and the metabolic parameters studied to levels observed in untreated Wt animals. Analysis of TH target genes revealed amelioration of the thyrotoxic state in liver, somewhat in the soleus, but there was no amelioration of the brain hypothyroidism. In conclusion, at the dose used, DITPA mainly ameliorated the hypermetabolism of Mct8KO mice. This thyroid hormone analog is suitable for the treatment of the hypermetabolism in patients with MCT8 deficiency, as suggested in limited preliminary human trials. PMID:26322373

  17. The Role of 25-Hydroxy Vitamin D Deficiency in Iron Deficient Children of North India.

    PubMed

    Sharma, Shikha; Jain, Rahul; Dabla, Pradeep Kumar

    2015-07-01

    Extensive data from animal and human studies indicate a role of vitamin D in erythropoiesis. Iron and vitamin D deficiencies are implicated with adverse health effects in children even if they are asymptomatic. The potential relationship between the two remains poorly understood. A cross-sectional study was performed in the period from 1st May 2012 through 30th April 2013 and subjects were classified into vitamin D deficiency (VDD), vitamin D insufficiency (VDI) and vitamin D sufficiency (VDS) groups according to their 25(OH) D levels. A total of 263 children were included in the analysis. Anaemia was present in 66 % of 25(OH) D deficient subjects compared with 35 % in vitamin D sufficient individuals (p < 0.0001). The association of breast feeding and development of VDD was also significant (p < 0.05). Serum levels of 25(OH) D were found lower in female sex and if the analysis was performed in the winter/spring season. Physicians should therefore assess vitamin D levels in all anaemic children and ensure adequate supplementation to prevent deficiencies. PMID:26089618

  18. Augmented glucoregulatory hormone concentrations during exhausting exercise in mildly iron-deficient rats.

    PubMed

    Zinker, B A; Dallman, P R; Brooks, G A

    1993-10-01

    We hypothesized that augmented responses of glucoregulatory hormones in iron deficiency would enhance liver and muscle glycogenolysis, leading to increased gluconeogenic precursor (lactate) supply and upregulation of hepatic gluconeogenesis. Female weanling rats were randomly placed on either a mildly iron-deficient (-Fe; 15 mg Fe/kg diet) or an iron-sufficient (+Fe; 50 mg Fe/kg diet) diet for 4 wk and studied at rest and during exhaustive treadmill running. Hemoglobin was 9.0 +/- 0.2 and 13.1 +/- 0.3 g/dl in -Fe and +Fe, respectively, after 3.5 wk of dietary iron deficiency. Arterial plasma epinephrine (Epi), norepinephrine (NE), adrenocorticotropic hormone (ACTH), corticosterone, insulin, and glucagon levels were similar at rest in both groups, as were liver, gastrocnemius, and superficial and deep vastus medialis glycogen levels. Liver and kidney phosphoenolpyruvate carboxykinase (PEPCK) activities were similar in both groups. Maximum O2 consumption was decreased (22%) in -Fe. Respiratory exchange ratio (CO2 production/O2 consumption) was unaffected at rest but increased at maximum O2 consumption in -Fe. Time to exhaustion during a standardized running test (13.4 m/min, 0% grade) was decreased 45% in -Fe (63 +/- 5 vs. 116 +/- 10 min). During exercise, euglycemia was maintained in both groups, but blood lactate was elevated in -Fe. The mean net glycogen utilization during exercise was increased in liver (43%), soleus (33%), and superficial vastus medialis (106%) and decreased in the gastrocnemius (36%) in -Fe. Liver and kidney PEPCK activities were increased similarly at exhaustion in both groups.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:8238458

  19. [Effects of the iodine deficiency on intellectual variables among children].

    PubMed

    Muela Martínez, José Antonio; García León, Ana; Torres Barahona, Rosario; Santiago Fernández, Piedad; Sóriguer Escofet, Federico

    2008-05-01

    An association between severe iodine deficiency and poor mental development has been found in many studies. We examined the relationship between moderate or mild iodine deficiency and intellectual capacity in order to determine whether problems common to severe iodine deficiency (including mental retardation) also emerge in a more subtle form. We also wished to know whether the classic methodology (comparing iodine-deficient zones with nondeficient zones) is the most adequate, and propose to combine this grouping by zones with urinary iodine presented by individuals in each zone. We measured IQ, manipulative and verbal capacity, attention, visual motor ability and disruptive behaviour, variables that have barely been studied in this kind of investigations. The sample comprised 760 schoolchildren from the province of Jaén (southern Spain). Our results show that children with low levels of iodine intake and with urinary iodine concentration lower than 100 microg/litre had a lower IQ and displayed more disruptive behaviour than children with high levels of the criteria. The other variables were not associated with iodine deficiency. PMID:18413091

  20. Psychological response to growth hormone treatment in short normal children.

    PubMed Central

    Downie, A B; Mulligan, J; McCaughey, E S; Stratford, R J; Betts, P R; Voss, L D

    1996-01-01

    This study provides a controlled assessment of the psychological (and physical) effects of growth hormone treatment. Fifteen short 'normal' children (height SD score < -2) have been treated with growth hormone since the age of 7/8 years. They, together with untreated short controls and average controls (10th-90th centiles), were assessed at recruitment, after three years, and after five years. Only the treated group showed a significant height increase (SD score -2.44 to -1.21 over five years). No significant differences were found at recruitment, three years, or five years in IQ, attainment, behaviour, or self esteem. Also at five years, there were no significant differences in locus of control, self perception, or parental perceptions of competence. Both short groups displayed less satisfaction with their height than the controls (p < 0.01), though all groups were optimistic of being tall adults. The treated children were no more unrealistic over final height than the untreated children. To date, no psychological benefits of treatment have been demonstrated; but nor have there been any discernible ill effects for either the treated or the untreated children. PMID:8813867

  1. Are children on jejunal feeds at risk of iron deficiency?

    PubMed Central

    Tan, Li-Zsa; Adams, Susan E; Kennedy, Alison; Kepreotes, Helen; Ooi, Chee Y

    2015-01-01

    Children on exclusive jejunal feeding may be at risk of iron deficiency due to the feeds bypassing the duodenum, which is the primary site for iron absorption. We describe the biochemical and hematological features of six children on exclusive jejunal feeding who did not receive iron supplementation. At a mean (standard deviation) period of 11 (6.5) mo after commencing jejunal feeds, there was a significant reduction in both serum iron (18.5 g/L vs 9.8 g/L, P = 0.01) and transferrin saturation levels (23.1% vs 13.7%, P = 0.02), suggesting iron deficiency. However, there was no significant change in ferritin, hemoglobin and mean corpuscular volume levels post-commencement of jejunal feeds. This may be the result of small bowel adaptation in response to early iron deficiency. Larger and longer term prospective studies are required to investigate if children on jejunal feeds are at risk of developing iron deficiency. PMID:25987804

  2. Novel mutations cause biotinidase deficiency in Turkish children.

    PubMed

    Pomponio, R J; Coskun, T; Demirkol, M; Tokatli, A; Ozalp, I; Hüner, G; Baykal, T; Wolf, B

    2000-03-01

    Mutation analysis was performed on DNA from 31 Turkish children with profound biotinidase deficiency who were symptomatic or ascertained by newborn screening. The 98G:del7ins3 mutation is common in clinically ascertained children in both the United States and Turkish populations, but a unique common mutation, R79C, is found only in the Turkish children identified both clinically and by newborn screening. Another frequently occurring mutation, T532M, is only observed in the Turkish newborn screening group. There are four other less frequent novel mutations identified in the Turkish population. Interestingly, the Q456H and the A171T:D444H double mutation, which are the most common mutations found in the US newborn screening population and have not been observed in symptomatic children, do occur in clinically ascertained children in the Turkish population, although the double mutation may be associated with milder and/or later-onset symptoms. PMID:10801053

  3. Obesity, diabetes and cancer: insight into the relationship from a cohort with growth hormone receptor deficiency.

    PubMed

    Guevara-Aguirre, Jaime; Rosenbloom, Arlan L

    2015-01-01

    Obesity with insulin-resistant diabetes and increased cancer risk is a global problem. We consider the alterations of metabolism attendant on the underlying pathogenic overnutrition and the role of the growth hormone (GH)-IGF-1 axis in this interaction. Obesity-induced insulin resistance is a determinant of diabetes. Excess glucose, and an elevated concentration of insulin acting through its own receptors along with complex interactions with the IGF-1 system, will add extra fuel and fuel signalling for malignant growth and induce anti-apoptotic activities, permitting proliferation of forbidden clones. In Ecuador there are ~100 living adults with lifelong IGF-1 deficiency caused by a GH receptor (GHR) mutation who, despite a high percentage of body fat, have markedly increased insulin sensitivity compared with age- and BMI-matched control relatives, and no instances of diabetes, which is present in 6% of unaffected relatives. Only 1 of 20 deceased individuals with GHR deficiency died of cancer vs 20% of ~1,500 relatives. Fewer DNA breaks and increased apoptosis occurred in cell cultures exposed to oxidant agents following addition of serum from GHR-deficient individuals vs serum from control relatives. These changes were reversible by adding IGF-1 to the serum from the GHR-deficient individuals. The reduction in central regulators of pro-ageing signalling thus appears to be the result of an absence of GHR function. The complex inter-relationship of obesity, diabetes and cancer risk is related to excess insulin and fuel supply, in the presence of heightened anti-apoptosis and uninhibited DNA damage when GHR function is normal. PMID:25316432

  4. Prevalence and risk factors for vitamin D deficiency in children with iron deficiency anemia

    PubMed Central

    Yoon, Jung Won; Kim, Sung Woo; Yoo, Eun Gyong

    2012-01-01

    Purpose The increasing prevalence of breast feeding has led to concerns about vitamin D deficiency (VDD) and iron deficiency anemia (IDA) in children. We evaluated the prevalence of VDD in a population of Korean children with IDA and assessed the risk factors for VDD in these children. Methods A total of 79 children who were diagnosed with IDA were prospectively surveyed from April 2010 to March 2011. Data were collected by questionnaire, medical assessment, and laboratory tests, including measurement of 25-hydroxyvitamin D (25OHD), hemoglobin, and wrist radiography. Results The median age was 22 months and 30% of the subjects were female. Over a half of subjects (58%) had subnormal vitamin D level (25OHD<30 ng/mL), and VDD (25OHD<20 ng/mL) was present in 39% of children. There was no difference in serum hemoglobin level between IDA patients with VDD and those without VDD. Most subjects (89%) were currently or had recently been breastfed and almost all subjects (97%) who had VDD received breastfeeding. Children with VDD were more likely to be younger than 2 years, to have been breastfed, and to have been tested in winter or spring. Multivariable analysis indicated seasonal variation was a significant independent risk factor for VDD in our IDA patients. Conclusion Our results demonstrated that VDD has a high prevalence in Korean children with IDA. Primary care physicians should be aware of the possibility of VDD in children with IDA and should supplement the vitamin D as well as iron. PMID:22745645

  5. Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.

    PubMed

    Shinnick, Julianna E; Schadt, Kimberly; Strawser, Cassandra; Wilcox, Nicholas; Perlman, Susan L; Wilmot, George R; Gomez, Christopher M; Mathews, Katherine D; Yoon, Grace; Zesiewicz, Theresa; Hoyle, Chad; Subramony, S H; Yiu, Eppie M; Delatycki, Martin B; Brocht, Alicia F; Farmer, Jennifer M; Lynch, David R

    2016-08-01

    Friedreich ataxia is a progressive degenerative disease with neurologic and cardiac involvement. This study characterizes comorbid medical conditions in a large cohort of patients with Friedreich ataxia. Patient diagnoses were collected in a large natural history study of 641 subjects. Prevalence of diagnoses in the cohort with Friedreich ataxia was compared with prevalence in the population without Friedreich ataxia. Ten patients (1.6%) had inflammatory bowel disease, 3.5 times more common in this cohort of individuals with Friedreich ataxia than in the general population. Four subjects were growth hormone deficient, reflecting a prevalence in Friedreich ataxia that is 28 times greater than the general population. The present study identifies specific diagnoses not traditionally associated with Friedreich ataxia that are found at higher frequency in this disease. These associations could represent coincidence, shared genetic background, or potentially interactive disease mechanisms with Friedreich ataxia. PMID:27071470

  6. Familial X-linked mental retardation and isolated growth hormone deficiency: Clinical and molecular findings

    SciTech Connect

    Hamel, B.C.J.; Smits, A.P.T.; Helm, B. van den

    1996-07-12

    We report on several members of a family with varying degrees of X-linked mental retardation (XLMR), isolated growth hormone deficiency (IGHD), and infantile behavior but without other consistent phenotypic abnormalities. Male patients continued to grow until well into their twenties and reached a height ranging from 135 to 159 cm. Except one, all female carriers were mentally normal; their adult height ranged from 159 to 168 cm. By linkage studies we have assigned the underlying genetic defect to the Xq24-q27.3 region, with a maximum lod score of Z = 3.26 at {theta} = 0.0 for the DXS294 locus. The XLMR-IGHD phenotype in these patients may be due to pleiotropic effects of a single gene or it may represent a contiguous gene syndrome. 18 refs., 6 figs., 3 tabs.

  7. Evaluation of Permanent Growth Hormone Deficiency (GHD) in Young Adults with Childhood Onset GHD: A multicenter study

    PubMed Central

    Berberoğlu, Merih; Darendeliler, Feyza; Poyrazoğlu, Şükran; Darcan, Şükran; İşgüven, Pınar; Bideci, Aysun; Öcal, Gönül; Bundak, Rüveyde; Yüksel, Bilgin; Arslanoğlu, İlknur

    2008-01-01

    Background: Reconfirming the diagnosis of childhood onset growth hormone deficiency (GHD) in young adults is necessary to demonstrate the need for continuation of GH therapy. Objective: This nationally−based study was planned to establish GH status during adulthood in childhood−onset GH deficient patients and to evaluate factors that would predict persistency of the GHD. Methods: In this multicenter study, 70 GH deficient patients who had reached final height were evaluated after completion of GH treatment. Fifty−two patients (74%) had isolated GHD and 18 patients (26%) had multiple pituitary hormone deficiency (MPHD). Patients who had reached final height and the pubertal Tanner stage 5 were reevaluated for GH status. After at least 6 weeks of cessation of GH treatment, patients were retested with insulin induced hypoglycemia. Results: GHD was found to be transient in 64.3% of all patients. Of the isolated GH deficient patients 82.7% had transient GHD, whereas 88.9% of the MPHD patients showed persistent GHD. Comparison of isolated GH deficient and multiple hormone deficient patients indicated higher peak GH, IGF−I and IGFBP−3 levels in isolated GH deficient patients. No parameter was significantly different in the transiently and persistently GH deficient patients with respect to gender. Although specificity of IGF−I value of less than −2 SD showing persistency of GHD was lower than the specificity of IGFBP−3 value of less than −2 SD (65.7% vs 84%), negative predictive values were similar for the two parameters (85.2% and 84%, respectively). Conclusion: Most of the cases of childhood onset GHD are idiopathic and the GHD is transient. In patients with MPHD, GHD is generally permanent. Low IGF−I and IGFBP−3 levels are supporting findings to show persistency of the GHD. Conflict of interest:None declared. PMID:21318062

  8. Detection of Growth Hormone Deficiency in Adults with Chronic Traumatic Brain Injury.

    PubMed

    Kreber, Lisa A; Griesbach, Grace S; Ashley, Mark J

    2016-09-01

    This study examined the prevalence of growth hormone deficiency (GHD) in patients with traumatic brain injury (TBI) during the post-acute phase of recovery and whether GHD was associated with increased disability, decreased independence, and depression. A secondary objective was to determine the accuracy of insulin-like growth factor-1 (IGF-1) levels in predicting GHD in patients with TBI. Anterior pituitary function was assessed in 235 adult patients with TBI through evaluation of fasting morning hormone levels. GH levels were assessed through provocative testing, specifically the glucagon stimulation test. GHD was diagnosed in a significant number of patients, with 45% falling into the severe GHD (≤3 μg/L) category. IGF-1 levels were not predictive of GHD. Patients with GHD were more disabled and less independent compared with those patients who were not GHD. Those patients with more severe GHD also showed decreased levels of cortisol and testosterone. Symptoms of depression were also more prevalent in this group. In addition, patients with severe GHD had delayed admission to post-acute rehabilitation. This study confirms the high prevalence of GHD in patients with TBI and the necessity to monitor clinical symptoms and perform provocative testing to definitively diagnose GHD. PMID:26414093

  9. Molecular genetic analysis of X-linked hypogammaglobulinemia and isolated growth hormone deficiency

    SciTech Connect

    Stewart, D.M.; Kurman, C.C.; Staudt, L.M.

    1995-09-01

    In 1980 the clinical syndrome of X-linked hypogammaglobulinemia and isolated growth hormone deficiency (XLA/GHD) was described. XLA/GHD patients have reduced serum levels of Ig and normal cell-mediated immunity, and thus resemble patients with Bruton`s X-linked agammaglobulinemia (XLA). However, XLA/GHD patients also have isolated GHD. Mutations and deletions in the Bruton`s tyrosine kinase gene (BTK) are responsible for Bruton`s XLA. We investigated BTK gene expression in an XLA/GHD patient from the family originally described by Northern analysis, cDNA sequencing, and Western analysis of protein production using mAb to BTK. BTK mRNA was normal in size and abundance, and the mRNA sequence was normal over the coding region, except for a single silent mutation. BTK protein was present in normal amounts in PBMC of this patient. Thus, at the molecular level, XLA/GHD is a different disease entity from Bruton`s XLA. These results suggest that undescribed genes critical for B cell development and growth hormone production exist on the X chromosome. 17 refs., 4 figs.

  10. Controversies in the diagnosis and management of growth hormone deficiency in childhood and adolescence.

    PubMed

    Murray, P G; Dattani, M T; Clayton, P E

    2016-01-01

    Growth hormone deficiency (GHD) is a rare but important cause of short stature in childhood with a prevalence of 1 in 4000. The diagnosis is currently based on an assessment of auxology along with supporting evidence from biochemical and neuroradiological studies. There are significant controversies in the diagnosis and management of GHD. Growth hormone (GH) stimulation tests continue to play a key role in GHD diagnosis but the measured GH concentration can vary significantly with stimulation test and GH assay used, creating difficulties for diagnostic accuracy. Such issues along with the use of adjunct biochemical markers such as IGF-I and IGFBP-3 for the diagnosis of GHD, will be discussed in this review. Additionally, the treatment of GHD remains a source of much debate; there is no consensus on the best mechanism for determining the starting dose of GH in patients with GHD. Weight and prediction based models will be discussed along with different mechanisms for dose adjustment during treatment (auxology or IGF-I targeting approaches). At the end of growth and childhood treatment, many subjects diagnosed with isolated GHD re-test normal. It is not clear if this represents a form of transient GHD or a false positive diagnosis during childhood. Given the difficulties inherent in the diagnosis of GHD, an early reassessment of the diagnosis in those who respond poorly to GH is to be recommended. PMID:26153506

  11. Detection of Growth Hormone Deficiency in Adults with Chronic Traumatic Brain Injury

    PubMed Central

    Griesbach, Grace S.; Ashley, Mark J.

    2016-01-01

    Abstract This study examined the prevalence of growth hormone deficiency (GHD) in patients with traumatic brain injury (TBI) during the post-acute phase of recovery and whether GHD was associated with increased disability, decreased independence, and depression. A secondary objective was to determine the accuracy of insulin-like growth factor-1 (IGF-1) levels in predicting GHD in patients with TBI. Anterior pituitary function was assessed in 235 adult patients with TBI through evaluation of fasting morning hormone levels. GH levels were assessed through provocative testing, specifically the glucagon stimulation test. GHD was diagnosed in a significant number of patients, with 45% falling into the severe GHD (≤3 μg/L) category. IGF-1 levels were not predictive of GHD. Patients with GHD were more disabled and less independent compared with those patients who were not GHD. Those patients with more severe GHD also showed decreased levels of cortisol and testosterone. Symptoms of depression were also more prevalent in this group. In addition, patients with severe GHD had delayed admission to post-acute rehabilitation. This study confirms the high prevalence of GHD in patients with TBI and the necessity to monitor clinical symptoms and perform provocative testing to definitively diagnose GHD. PMID:26414093

  12. Precocious metamorphosis in the juvenile hormone-deficient mutant of the silkworm, Bombyx mori.

    PubMed

    Daimon, Takaaki; Kozaki, Toshinori; Niwa, Ryusuke; Kobayashi, Isao; Furuta, Kenjiro; Namiki, Toshiki; Uchino, Keiro; Banno, Yutaka; Katsuma, Susumu; Tamura, Toshiki; Mita, Kazuei; Sezutsu, Hideki; Nakayama, Masayoshi; Itoyama, Kyo; Shimada, Toru; Shinoda, Tetsuro

    2012-01-01

    Insect molting and metamorphosis are intricately governed by two hormones, ecdysteroids and juvenile hormones (JHs). JHs prevent precocious metamorphosis and allow the larva to undergo multiple rounds of molting until it attains the proper size for metamorphosis. In the silkworm, Bombyx mori, several "moltinism" mutations have been identified that exhibit variations in the number of larval molts; however, none of them have been characterized molecularly. Here we report the identification and characterization of the gene responsible for the dimolting (mod) mutant that undergoes precocious metamorphosis with fewer larval-larval molts. We show that the mod mutation results in complete loss of JHs in the larval hemolymph and that the mutant phenotype can be rescued by topical application of a JH analog. We performed positional cloning of mod and found a null mutation in the cytochrome P450 gene CYP15C1 in the mod allele. We also demonstrated that CYP15C1 is specifically expressed in the corpus allatum, an endocrine organ that synthesizes and secretes JHs. Furthermore, a biochemical experiment showed that CYP15C1 epoxidizes farnesoic acid to JH acid in a highly stereospecific manner. Precocious metamorphosis of mod larvae was rescued when the wild-type allele of CYP15C1 was expressed in transgenic mod larvae using the GAL4/UAS system. Our data therefore reveal that CYP15C1 is the gene responsible for the mod mutation and is essential for JH biosynthesis. Remarkably, precocious larval-pupal transition in mod larvae does not occur in the first or second instar, suggesting that authentic epoxidized JHs are not essential in very young larvae of B. mori. Our identification of a JH-deficient mutant in this model insect will lead to a greater understanding of the molecular basis of the hormonal control of development and metamorphosis. PMID:22412378

  13. Sex Hormone-Binding Globulin in Children and Adolescents

    PubMed Central

    Aydın, Banu; Winters, Stephen J.

    2016-01-01

    Sex hormone-binding globulin (SHBG) is a circulating glycoprotein that transports testosterone and other steroids in the blood. Interest in SHBG has escalated in recent years because of its inverse association with obesity and insulin resistance, and because many studies have linked lower circulating levels of SHBG to metabolic syndrome, type 2 diabetes, nonalcoholic fatty liver disease, polycystic ovary syndrome, and early puberty. The purpose of this review is to summarize molecular, clinical, endocrine, and epidemiological findings to illustrate how measurement of plasma SHBG may be useful in clinical medicine in children. PMID:26761949

  14. Sex Hormone-Binding Globulin in Children and Adolescents.

    PubMed

    Aydın, Banu; Winters, Stephen J

    2016-03-01

    Sex hormone-binding globulin (SHBG) is a circulating glycoprotein that transports testosterone and other steroids in the blood. Interest in SHBG has escalated in recent years because of its inverse association with obesity and insulin resistance, and because many studies have linked lower circulating levels of SHBG to metabolic syndrome, type 2 diabetes, nonalcoholic fatty liver disease, polycystic ovary syndrome, and early puberty. The purpose of this review is to summarize molecular, clinical, endocrine, and epidemiological findings to illustrate how measurement of plasma SHBG may be useful in clinical medicine in children. PMID:26761949

  15. Should Patients with Trichorhinophalangeal Syndrome be Tested for Growth Hormone Deficiency?

    PubMed

    Marques, Jorge Sales; Maia, Catarina; Almeida, Raquel; Isidoro, Lara; Dias, Catarina

    2015-09-01

    Type 1 Trichorhinophalangeal syndrome (TRPS) is characterized by typical facial and skeletal abnormalities. These patients frequently exhibit short stature; however, only one case with growth hormone (GH) deficiency can be found in the literature. Our patient is a 10-year-old girl with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity: c. 1198C>T (p. Gln400X) and c.2086C>T (p. Arg696X). She has an additional GH deficiency. The patient is short in stature, with a growth velocity of 1.5 cm per year (SDS - 4.07), a bone age of 4.5 years, and she shows no response to the GH stimulation tests. According to a previous report of an identical case, catch-up growth will occur after beginning GH treatment. We believe that GH stimulation tests should be performed on patients with TRPS1 exhibiting a growth velocity below the normal range expected for their age and sex. If the result is subnormal, then GH therapy should be attempted. PMID:26540763

  16. GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency.

    PubMed

    Castinetti, F; Daly, A F; Stratakis, C A; Caberg, J-H; Castermans, E; Trivellin, G; Rostomyan, L; Saveanu, A; Jullien, N; Reynaud, R; Barlier, A; Bours, V; Brue, T; Beckers, A

    2016-06-01

    Patients with Xq26.3 microduplication present with X-linked acrogigantism (X-LAG) syndrome, an early-childhood form of gigantism due to marked growth hormone (GH) hypersecretion from mixed GH-PRL adenomas and hyperplasia. The microduplication includes GPR101, which is upregulated in patients' tumor tissue. The GPR101 gene codes for an orphan G protein coupled receptor that is normally highly expressed in the hypothalamus. Our aim was to determine whether GPR101 loss of function mutations or deletions could be involved in patients with congenital isolated GH deficiency (GHD). Taking advantage of the cohort of patients from the GENHYPOPIT network, we studied 41 patients with unexplained isolated GHD. All patients had Sanger sequencing of the GPR101 gene and array comparative genome hybridization (aCGH) to look for deletions. Functional studies (cell culture with GH secretion measurements, cAMP response) were performed. One novel GPR101 variant, c.589 G>T (p.V197L), was seen in the heterozygous state in a patient with isolated GHD. In silico analysis suggested that this variant could be deleterious. Functional studies did not show any significant difference in comparison with wild type for GH secretion and cAMP response. No truncating, frameshift, or small insertion-deletion (indel) GPR101 mutations were seen in the 41 patients. No deletion or other copy number variation at chromosome Xq26.3 was found on aCGH. We found a novel GPR101 variant of unknown significance, in a patient with isolated GH deficiency. Our study did not identify GPR101 abnormalities as a frequent cause of GH deficiency. PMID:26797872

  17. Deficiency of prohormone convertase dPC2 (AMONTILLADO) results in impaired production of bioactive neuropeptide hormones in Drosophila.

    PubMed

    Wegener, Christian; Herbert, Henrik; Kahnt, Jörg; Bender, Michael; Rhea, Jeanne M

    2011-08-01

    Peptide hormones synthesized by secretory neurons in the CNS are important regulators of physiology, behavior, and development. Like other neuropeptides, they are synthesized from larger precursor molecules by a specific set of enzymes. Using a combination of neurogenetics, immunostainings, and direct mass spectrometric profiling, we show that the presence of Drosophila prohormone convertase 2 encoded by the gene amontillado (amon) is a prerequisite for the proper processing of neuropeptide hormones from the major neurohemal organs of the CNS. A loss of amon correlates with a loss of neuropeptide hormone signals from the larval ring gland and perisympathetic organs. Neuropeptide hormone signals were still detectable in the adult corpora cardiaca of older amon-deficient flies which were amon heat-shock-rescued until eclosion. A semiquantification by direct peptide profiling using stable isotopic standards showed, however, that their neuropeptide hormone levels are strongly reduced. Targeted expression of GFP under the control of amon regulatory regions revealed a co-localization with the investigated peptide hormones in secretory neurons of the brain and ventral nerve cord. The lack of AMON activity resulted in a deficiency of L3 larva to enter the wandering phase. In conclusion, our findings provide the first direct evidence that AMON is a key enzyme in the production of neuropeptides in the fruitfly. PMID:21138435

  18. The influence of growth hormone deficiency, growth hormone replacement therapy, and other aspects of hypopituitarism on fracture rate and bone mineral density. .

    PubMed

    Wüster, C; Abs, R; Bengtsson, B A; Bennmarker, H; Feldt-Rasmussen, U; Hernberg-Ståhl, E; Monson, J P; Westberg, B; Wilton, P

    2001-02-01

    To assess the influence of factors affecting fracture risk and bone density in adult hypopituitary patients with growth hormone deficiency (GHD), data from a large-scale pharmacoepidemiological survey (the Pharmacia & Upjohn International Metabolic Database [KIMS]) were analyzed and compared with data from a control population (the European Vertebral Osteoporosis Study [EVOS]). The KIMS group consisted of 2084 patients (1112 men and 972 women) with various types of pituitary disease and EVOS consisted of 1176 individuals (581 men and 595 women). Fracture and bone mineral density (BMD) data were available from 2024 patients from the KIMS group and 392 patients from EVOS. The prevalence of fractures in patients with hypopituitarism was 2.66 times that in the non-GH-deficient EVOS population. Adult-onset hypopituitarism with GHD was associated with a higher fracture risk than childhood-onset disease, and patients with isolated GHD had a similar prevalence of fractures to those with multiple pituitary hormone deficiencies. Hormonal replacement therapy with L-thyroxine, glucocorticoids, and sex steroids did not affect the risk of fracture in KIMS patients. In addition, fracture rates in KIMS were independent of body mass index (BMI) and the country of origin. However, smoking was associated with a higher fracture rate in this group. In summary, this is the first large-scale analysis to support the hypothesis of an increased fracture risk in adult patients with hypopituitarism and GHD. This increased risk appears to be attributable to GHD alone, rather than to other pituitary hormone deficiencies or to their replacement therapy. PMID:11204440

  19. Growth hormone receptor polymorphism and growth hormone therapy response in children: a Bayesian meta-analysis.

    PubMed

    Renehan, Andrew G; Solomon, Mattea; Zwahlen, Marcel; Morjaria, Reena; Whatmore, Andrew; Audí, Laura; Binder, Gerhard; Blum, Werner; Bougnères, Pierre; Santos, Christine Dos; Carrascosa, Antonio; Hokken-Koelega, Anita; Jorge, Alexander; Mullis, Primus E; Tauber, Maïthé; Patel, Leena; Clayton, Peter E

    2012-05-01

    Recombinant human growth hormone (rhGH) therapy is used in the long-term treatment of children with growth disorders, but there is considerable treatment response variability. The exon 3-deleted growth hormone receptor polymorphism (GHR(d3)) may account for some of this variability. The authors performed a systematic review (to April 2011), including investigator-only data, to quantify the effects of the GHR(fl-d3) and GHR(d3-d3) genotypes on rhGH therapy response and used a recently established Bayesian inheritance model-free approach to meta-analyze the data. The primary outcome was the 1-year change-in-height standard-deviation score for the 2 genotypes. Eighteen data sets from 12 studies (1,527 children) were included. After several prior assumptions were tested, the most appropriate inheritance model was codominant (posterior probability = 0.93). Compared with noncarriers, carriers had median differences in 1-year change-in-height standard-deviation score of 0.09 (95% credible interval (CrI): 0.01, 0.17) for GHR(fl-d3) and of 0.14 (95% CrI: 0.02, 0.26) for GHR(d3-d3). However, the between-study standard deviation of 0.18 (95% CrI: 0.10, 0.33) was considerable. The authors tested by meta-regression for potential modifiers and found no substantial influence. They conclude that 1) the GHR(d3) polymorphism inheritance is codominant, contrasting with previous reports; 2) GHR(d3) genotypes account for modest increases in rhGH effects in children; and 3) considerable unexplained variability in responsiveness remains. PMID:22494952

  20. Iron Deficiency Is Common During Remission in Children With Inflammatory Bowel Disease

    PubMed Central

    Wikholm, Emma; Malmborg, Petter; Forssberg, Maria; Hederos, Carl-Axel; Wikström, Sverre

    2016-01-01

    The aim was to study prevalence of iron deficiency in children with inflammatory bowel disease (IBD) during remission. In addition, there was an observational evaluation of hematological response to oral iron. A population-based retrospective study including 90 Swedish children (median 13 years) with IBD was performed. Patient records covered in median 25 months. Iron deficiency was present in 70/77 children (91%) in which iron status could be assessed. In clinical and biochemical remission, iron deficiency was found in 57/67 (85%) of children, and 23 (34%) of them had iron deficiency anemia. Thirty-six iron-deficient children were prescribed oral iron supplementation and 32 (89%) improved hemoglobin levels over 6 months. In conclusion, iron deficiency is common during clinical remission in children with IBD, even in cohorts with low prevalence of anemia. Therefore, regular biochemical screening for iron deficiency is warranted during all stages of disease, irrespective of symptoms and inflammatory blood markers. PMID:27336004

  1. Strategy utilization deficiencies in children: when, where, and why.

    PubMed

    Miller, P H; Seier, W L

    1994-01-01

    By the early 1980s, a clear picture of the role of strategies in memory development was emerging. Strategies generally help recall and thus are a main contributor to memory development. Young children have a production deficiency that is overcome during the grade school years. By the early 1990s, the process appeared to be a good deal more complex. Although spontaneously produced strategies often help recall, they do not inevitably do so, especially among novice strategy producers--even when their strategy production appears proficient. In the 1980s and 1990s, a main theme of research on children's strategies of memory has been that children begin to use strategies earlier than previously thought. Researchers have identified rudimentary strategies of even 2- and 3-yr-olds. Our research suggests that we also need to take a careful look at the other end of the spectrum. A strategy may continue to develop well beyond the point at which an apparently full-blown strategy is produced. Producing a relevant strategy does not mark the end of strategy development. Rather, it marks the beginning of the development of a proficient, low-effort strategy that enhances recall. Even after a child spontaneously produces the strategy fully and consistently, the strategy gradually becomes less effortful to access and to execute and is integrated with other mnemonic strategies and activities. As a result, the strategy is increasingly likely to facilitate recall. Researchers need to conduct a fine-grained analysis of the actual implementation of a strategy--how the strategy of interest dovetails with a set of strategic, metamemorial, information-processing, and motor-control processes. The utilization deficiency phenomenon may challenge current conceptions of how and why skills develop. Why do children spontaneously use and continue to use a skill that helps them little or not at all? The usual assumption has been that children acquire and perfect skills because they have some benefit

  2. Parathyroid hormone increases bone formation and improves mineral balance in vitamin D-deficient female rats.

    PubMed

    Toromanoff, A; Ammann, P; Mosekilde, L; Thomsen, J S; Riond, J L

    1997-06-01

    The present study was designed to investigate whether enhanced bone formation due to intermittent PTH administration is dependent on vitamin D metabolites. Forty-eight female Sprague-Dawley rats were randomized into four groups: 1) vitamin D-sufficient, saline-injected (+D Sal); 2) vitamin D-sufficient, human (h) PTH-(1-38)-treated (+D PTH); 3) vitamin D-deficient, saline-injected (-D Sal); and 4) vitamin D-deficient, hPTH-(1-38)-treated (-D PTH) animals. The -D diet contained 2% calcium (Ca), 1.25% phosphorus (P), and 20% lactose to maintain normocalcemia and normophosphatemia despite vitamin D deficiency. The +D diet contained 0.8% Ca, 0.5% P, 20% lactose, and 1000 IU/kg vitamin D. After 45 days of either diet, the rats were injected with 50 microg/kg BW PTH or saline, s.c., daily for 2 weeks. Serum Ca, Mg, P, albumin, and creatinine were similar in all groups. PTH administration decreased endogenous PTH concentrations in the -D PTH compared with those in the - D Sal group. Serum alkaline phosphatase activity, bone mass measurements, dual energy x-ray absortiometric analysis of mineral density, and mechanical testing values in vertebrae and femora of the -D Sal animals did not significantly differ from those in +D Sal animals. Moreover, in both diet groups, PTH improved bone biochemical activity (as assessed by serum alkaline phosphatase), bone mass, mineral density, and biomechanical properties. These results indicate that mineral supply, more than vitamin D itself, may be important for normal bone mineralization and to enable PTH to enhance bone formation. A balance study performed during the last 3 days of the experiment revealed that PTH increased apparent intestinal magnesium absorption in the +D group only. Ca and P retention, however, were augmented in both diet groups after PTH treatment. In conclusion, in normocalcemic and normophosphatemic -D rats, PTH treatment reduced the increased endogenous hormone concentration and improved Ca and P retention

  3. Growth hormone deficiency due to traumatic brain injury in a patient with X-linked congenital adrenal hypoplasia.

    PubMed

    Engiz, Ozlem; Ozön, Alev; Riepe, Felix; Alikaşifoğlu, Ayfer; Gönç, Nazli; Kandemir, Nurgün

    2010-01-01

    X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal insufficiency and is frequently associated with hypogonadotropic hypogonadism (HH). The production of other pituitary hormones (adrenocorticotropic hormone [ACTH], growth hormone [GH], thyroid-stimulating hormone [TSH], and prolactin [PRL]) is usually normal. Mutations of the DAX-1 gene have been reported in patients with AHC and HH. We present a 13-year-old male patient with AHC caused by a nonsense mutation in the DAX-1 gene who developed GH deficiency following head trauma. He showed signs of adrenal insufficiency at the age of 23 months, and glucocorticoid and mineralocorticoid treatment was started. His parents reported head trauma due to a traffic accident at the age of 21 months. Adrenal computed tomography revealed hypoplasia of the left and agenesis of the right adrenal gland. Decreased growth rate was noted at the age of 12.5 years while receiving hydrocortisone 15 mg/m2/day. His height was 139.9 cm (-1.46 SD), body weight was 54.9 kg, pubic hair was Tanner stage 1, and testis size was 3 ml. His bone age was 7 years. His gonadotropin (follicle-stimulating hormone [FSH], luteinizing hormone [LH]) and testosterone levels were prepubertal. The evaluation of GH/insulin-like growth factor-1 (IGF-1) secretion at the age of 13 years revealed GH deficiency. Pituitary magnetic resonance imaging demonstrated a hypoplastic hypophysis (< 2.5 mm) and a normal infundibulum. GH treatment (0.73 IU/kg/week) was started. This paper reports a patient with genetically confirmed AHC demonstrating GH deficiency possibly due to a previous head trauma. Complete pituitary evaluation should be performed in any child who has survived severe traumatic brain injury. PMID:20718192

  4. Effects of thyroid hormone deficiency on electrocardiogram findings of congenitally hypothyroid neonates.

    PubMed

    Asami, T; Suzuki, H; Yazaki, S; Sato, S; Uchiyama, M

    2001-08-01

    and log (TSH). From these results we conclude that the deficiency of thyroid hormones does not affect ECG findings of congenitally hypothyroid neonates. This may be consistent with the unexpectedly mild signs and symptoms of screen-detected hypothyroid neonates. PMID:11525269

  5. Prevention of Iron-Deficiency Anemia in Infants and Children of Preschool Age.

    ERIC Educational Resources Information Center

    Fomon, Samuel J.

    Iron-deficiency anemia is almost certainly the most prevalent nutritional disorder among infants and young children in the United States. Anemia is frequently seen among children of low socioeconomic status but is probably also the most frequent nutritional deficiency disease seen among children cared for by private doctors. Possible reasons for…

  6. Hormones

    MedlinePlus

    Hormones are your body's chemical messengers. They travel in your bloodstream to tissues or organs. They work ... glands, which are special groups of cells, make hormones. The major endocrine glands are the pituitary, pineal, ...

  7. Deficient motor timing in children with neurofibromatosis type 1.

    PubMed

    Debrabant, Julie; Plasschaert, Ellen; Caeyenberghs, Karen; Vingerhoets, Guy; Legius, Eric; Janssens, Sandra; Van Waelvelde, Hilde

    2014-11-01

    Neurofibromatosis type 1 (NF1) is one of the most common single-gene disorders affecting fine and visual-motor skills. This case-control study investigated motor timing as a possible related performance deficit in children with NF1. A visual-motor reaction time (VRT) test was administered in 20 NF1 children (mean age 9 years 7 months) and 20 age- and gender-matched typically developing (TD) children. Copying and tracing performance were evaluated using the Beery-Buktenica Developmental Test of Visual-Motor Integration (Beery VMI). Children with NF1 responded with an increased reaction time (RT) to temporally predictive stimuli compared to TD children, whereas RT at unpredictive stimuli did not differ between groups. Motor timing indexed by the RT decrease at predictive stimuli significantly associated with the Beery VMI copy and tracing outcomes. Deficient motor timing as an actual symptom may add to further research on the pathogenesis of NF1-associated motor impairment and the development of more effective treatment. PMID:25145806

  8. Deficient cognitive control fuels children's exuberant false allegations.

    PubMed

    Poole, Debra Ann; Dickinson, Jason J; Brubacher, Sonja P; Liberty, Allison E; Kaake, Amanda M

    2014-02-01

    In eyewitness studies as in actual investigations, a minority of children generate numerous false (and sometimes incredulous) allegations. To explore the characteristics of these children, we reinterviewed and administered a battery of tasks to 61 children (ages 4-9 years) who had previously participated in an eyewitness study where a man broke a "germ rule" twice when he tried to touch them. Performance on utilization, response conflict (Luria tapping), and theory of mind tasks predicted the number of false reports of touching (with age and time since the event controlled) and correctly classified 90.16% of the children as typical witnesses or exuberant (more than 3) false reporters. Results of a factor analysis pointed to a common process underlying performance on these tasks that accounted for 49% of the variability in false reports. Relations between task performance and testimony confirmed that the mechanisms underlying occasional intrusions are different from those that drive persistent confabulation and that deficient cognitive control fuels young children's exuberant false reports. PMID:24157217

  9. Dose dependency of time of onset of radiation-induced growth hormone deficiency

    SciTech Connect

    Clayton, P.E.; Shalet, S.M. )

    1991-02-01

    Growth hormone (GH) secretion during insulin-induced hypoglycemia was assessed on 133 occasions in 82 survivors of childhood malignant disease. All had received cranial irradiation with a dose range to the hypothalamic-pituitary axis of 27 to 47.5 Gy (estimated by a schedule of 16 fractions over 3 weeks) and had been tested on one or more occasions between 0.2 and 18.9 years after treatment. Results of one third of the GH tests were defined as normal (GH peak response, greater than 15 mU/L) within the first 5 years, in comparison with 16% after 5 years. Stepwise multiple linear regression analysis showed that dose (p = 0.007) and time from irradiation (p = 0.03), but not age at therapy, had a significant influence on peak GH responses. The late incidence of GH deficiency was similar over the whole dose range (4 of 26 GH test results normal for less than 30 Gy and 4 of 25 normal for greater than or equal to 30 Gy after 5 years), but the speed of onset over the first years was dependent on dose. We conclude that the requirement for GH replacement therapy and the timing of its introduction will be influenced by the dose of irradiation received by the hypothalamic-pituitary axis.

  10. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.

    PubMed

    Laumonnier, Frédéric; Ronce, Nathalie; Hamel, Ben C J; Thomas, Paul; Lespinasse, James; Raynaud, Martine; Paringaux, Christine; Van Bokhoven, Hans; Kalscheuer, Vera; Fryns, Jean-Pierre; Chelly, Jamel; Moraine, Claude; Briault, Sylvain

    2002-12-01

    Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the IL1RAPL gene at Xp21.3 and the Xq breakpoint near the SOX3 gene (SRY [sex determining region Y]-box 3) (GenBank accession number NM_005634) at Xq26.3. Because carrier females with microdeletion in the IL1RAPL gene do not present any abnormal phenotype, we focused on the Xq breakpoint. However, we were unable to confirm the involvement of SOX3 in the mental retardation in this female patient. To validate SOX3 as an X-linked mental retardation (XLMR) gene, we performed mutation analyses in families with XLMR whose causative gene mapped to Xq26-q27. We show here that the SOX3 gene is involved in a large family in which affected individuals have mental retardation and growth hormone deficiency. The mutation results in an in-frame duplication of 33 bp encoding for 11 alanines in a polyalanine tract of the SOX3 gene. The expression pattern during neural and pituitary development suggests that dysfunction of the SOX3 protein caused by the polyalanine expansion might disturb transcription pathways and the regulation of genes involved in cellular processes and functions required for cognitive and pituitary development. PMID:12428212

  11. Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency

    PubMed Central

    Laumonnier, Frédéric; Ronce, Nathalie; Hamel, Ben C. J.; Thomas, Paul; Lespinasse, James; Raynaud, Martine; Paringaux, Christine; van Bokhoven, Hans; Kalscheuer, Vera; Fryns, Jean-Pierre; Chelly, Jamel; Moraine, Claude; Briault, Sylvain

    2002-01-01

    Physical mapping of the breakpoints of a pericentric inversion of the X chromosome (46,X,inv[X][p21q27]) in a female patient with mild mental retardation revealed localization of the Xp breakpoint in the IL1RAPL gene at Xp21.3 and the Xq breakpoint near the SOX3 gene (SRY [sex determining region Y]–box 3) (GenBank accession number NM_005634) at Xq26.3. Because carrier females with microdeletion in the IL1RAPL gene do not present any abnormal phenotype, we focused on the Xq breakpoint. However, we were unable to confirm the involvement of SOX3 in the mental retardation in this female patient. To validate SOX3 as an X-linked mental retardation (XLMR) gene, we performed mutation analyses in families with XLMR whose causative gene mapped to Xq26-q27. We show here that the SOX3 gene is involved in a large family in which affected individuals have mental retardation and growth hormone deficiency. The mutation results in an in-frame duplication of 33 bp encoding for 11 alanines in a polyalanine tract of the SOX3 gene. The expression pattern during neural and pituitary development suggests that dysfunction of the SOX3 protein caused by the polyalanine expansion might disturb transcription pathways and the regulation of genes involved in cellular processes and functions required for cognitive and pituitary development. PMID:12428212

  12. MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency.

    PubMed

    Castinetti, Frederic; Reynaud, Rachel; Saveanu, Alexandru; Jullien, Nicolas; Quentien, Marie Helene; Rochette, Claire; Barlier, Anne; Enjalbert, Alain; Brue, Thierry

    2016-06-01

    Over the last 5 years, new actors involved in the pathogenesis of combined pituitary hormone deficiency in humans have been reported: they included a member of the immunoglobulin superfamily glycoprotein and ciliary G protein-coupled receptors, as well as new transcription factors and signalling molecules. New modes of inheritance for alterations of genes encoding transcription factors have also been described. Finally, actors known to be involved in a very specific phenotype (hypogonadotroph hypogonadism for instance) have been identified in a wider range of phenotypes. These data thus suggest that new mechanisms could explain the low rate of aetiological identification in this heterogeneous group of diseases. Taking into account the fact that several reviews have been published in recent years on classical aetiologies of CPHD such as mutations of POU1F1 or PROP1, we focused the present overview on the data published in the last 5 years, to provide the reader with an updated review on this rapidly evolving field of knowledge. PMID:26733480

  13. Profile of follitropin alpha/lutropin alpha combination for the stimulation of follicular development in women with severe luteinizing hormone and follicle-stimulating hormone deficiency

    PubMed Central

    Rinaldi, Leonardo; Selman, Helmy

    2016-01-01

    A severe gonadotropin deficiency together with chronic estradiol deficiency leading to amenorrhea characterizes patients suffering from hypogonadotropic hypogonadism. Administration of both follicle-stimulating hormone (FSH) and luteinizing hormone (LH) to these patients has been shown to be essential in achieving successful stimulation of follicular development, ovulation, and rescue of fertility. In recent years, the availability of both recombinant FSH (rFSH) and recombinant LH (rLH) has provided a new therapeutic option for the stimulation of follicular growth in hypopituitary–hypogonadotropic women (World Health Organization Group I). In this article, we review the data reported in the literature to highlight the role and the efficacy of using recombinant gonadotropins, rFSH and rLH, in the treatment of women with severe LH/FSH deficiency. Although the studies on this issue are limited and the experiences available in the literature are few due to the small number of such patients, it is clearly evident that the recombinant gonadotropins rFSH and rLH are efficient in treating patients affected by hypogonadotropic hypogonadism. The results observed in the studies reported in this review suggest that recombinant gonadotropins are able to induce proper follicular growth, oocyte maturation, and eventually pregnancy in this group of women. Moreover, the clinical use of recombinant gonadotropins in this type of patients has given more insight into some endocrinological aspects of ovarian function that have not yet been fully understood. PMID:27307766

  14. Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children.

    PubMed

    Chalmers, R A; Bain, M D; Michelakakis, H; Zschocke, J; Iles, R A

    2006-02-01

    Persistent trimethylaminuria in children is caused by autosomal recessively inherited impairment of hepatic trimethylamine (TMA) oxidation due to deficiency of flavin monooxygenase 3 (FMO3) secondary to mutations in the FMO3 gene. Trimethylaminuria or 'fish odour syndrome' is due to excessive excretion into body fluids and breath of TMA derived from the enterobacterial metabolism of dietary precursors. The disorder is present from birth but becomes apparent as foods containing high amounts of choline or of trimethylamine N-oxide (TMAO) from marine (sea or saltwater) fish are introduced into the diet. In our experience, trimethylaminuria (FMO3 deficiency) in children is rare. We have compared the dynamics and diagnostic efficacy of choline loading with marine fish meals in six children with trimethylaminuria. Loading with a marine fish meal provides a simple and acceptable method for confirmation of diagnosis of suspected trimethylaminuria in children, with the effects being cleared more quickly than with a choline load test. However, oral loading with choline bitartrate allows estimation of residual oxidative capacity in vivo and is a useful adjunct to molecular studies. Patients homozygous for the 'common' P153L mutation in the FMO3 gene showed virtual complete lack of residual TMA N-oxidative capacity, consistent with a nonfunctional or absent FMO3 enzyme, whereas a patient with the M82T mutation showed some residual oxidative capacity. A patient compound heterozygous for two novel mutations, G193E and R483T, showed considerable residual N-oxidative capacity. A further patient, heterozygous for two novel sequence variations in the FMO3 gene, consistently showed malodour and elevated urinary TMA/TMAO ratios under basal conditions but a negative response to both choline and marine fish meal loading. Comparison of the effects of administration of antibiotics (metronidazole, amoxicillin, neomycin) on gut bacterial production of trimethylamine from choline showed they

  15. Parents’ views on growth hormone treatment for their children: psychosocial issues

    PubMed Central

    van Dongen, Nadine; Kaptein, Ad A

    2012-01-01

    Background We evaluated the opinions of parents in The Netherlands concerning treatment of their children with growth hormone, and examined beliefs and perceptions about treatment and quality of health care communication and support. Methods An Internet survey was completed by 69 parents who had children prescribed growth hormone and were part of the Patient Intelligence Panel. Acceptance of the diagnosis and treatment was investigated with reference to four topics, ie, search and quality of information, involvement in decision-making process, operational aspects, and emotional problems and support. Results Among the parents surveyed, 48% reported a lack of freedom to choose the type of growth hormone device that best suited their needs, 92% believed that their children (and they themselves) would benefit if the children self-administered growth hormone, and 65% believed training to support self-administration would be helpful. According to 79%, the availability of support from another parent with experience of treating their own child with growth hormone, alongside their doctor, would be valuable. Thirty-seven percent of the parents indicated that their children felt anxious about administration of growth hormone, and 83% of parents would appreciate psychological support to overcome their anxiety. An increase in reluctance to receive treatment with growth hormone was observed by 40% of parents after the children reached puberty, and 57% of these parents would appreciate psychological support to overcome this reluctance. Conclusion Understanding how growth hormone treatments and their implications are perceived by parents is a first step towards addressing quality of growth hormone treatment, which may be instrumental in improving adherence. The data show a need for support and involvement of parents in the process of choosing a growth hormone device. This decision-making process may be instrumental in improving acceptance and diminishing emotional problems for

  16. Evaluation of Iodine Deficiency in Children with Attention Deficit/Hyperactivity Disorder

    PubMed Central

    Kanık Yüksek, Saliha; Aycan, Zehra; Öner, Özgür

    2016-01-01

    Objective: To investigate the incidence of iodine deficiency (ID) and its effects on mental function in children referred to the Dr. Sami Ulus Maternity and Children’s Training and Research Hospital with a prospective diagnosis of attention deficit/hyperactivity disorder (ADHD). Methods: The study was conducted on 89 children referred in the period from September 2009 to June 2010 with a diagnosis of ADHD. A questionnaire was given to all parents. Conners’ rating scales were applied to the parents (CPRS) and teachers (CTRS), and revised Wechsler intelligence scale for children (WISC-R) to the children. Serum thyroid-stimulating hormone, free triiodothyronine and free thyroxine, thyroglobulin, anti-thyroid peroxidase, anti-thyroglobulin, and urinary iodine levels were measured in all children. Results: Median age was 9.41±1.95 years, and 83.1% of subjects were male. The mean urinary iodine level of the children was 92.56±22.25 μg/L. ID was detected in 71.9% of subjects and all were mild ID. There was no significant relationship between urinary iodine levels with WISC-R subtest scores and CPRS. However, a significant association was found between urinary iodine levels and hyperactivity section of CTRS (p<0.05). Likewise, a significant relationship was found between learning disorder/mental retardation diagnosis and freedom subtest of WISC-R (p<0.05). Conclusion: This study highlights the effects of ID on comprehension, perception, attention, and learning. However, the results need to be supported by new randomized controlled trials. PMID:26758811

  17. Effect of Dietary Selenium Deficiency on the Cell Apoptosis and the Level of Thyroid Hormones in Chicken.

    PubMed

    Huang, Yunmao; Li, Wanyan; Xu, Danning; Li, Bingxin; Tian, Yunbo; Zan, Linsen

    2016-06-01

    This study assessed the effect of dietary selenium (Se) deficiency on male reproductive function in chicken. A total of 180 Hy-line laying cocks (1 day old; Weiwei) were randomly divided into 2 groups (n = 90) of Se-deficient chickens and control chickens. The control group was fed a basic diet (containing 0.15 mg of Se/kg). The Se-deficient group was fed a Se-deficient corn-soy basal diet (containing 0.033 mg of Se/kg). Fifteen chickens were killed in each group on days 30, 60, and 90, respectively. Then, serum and testes were collected and used in the detection of experimental index. Results indicated that GSH-Px activity and Bcl-2 mRNA level in the testes and thyroidal triiodothyronine (T3) and free triiodothyronine (FT3) levels in serum by dietary Se deficiency were significantly decreased compared to the corresponding control groups. Se deficiency-treated group showed a significant increase in MDA concent, TUNEL-positive cells, and mRNA level of Bax, Caspase3, and p53 in the testes and thyroidal thyroxine (T4), free thyroxine (FT4), and thyroid-stimulating hormone (TSH) levels in serum. Histopathologically, Se deficiency caused impairments in the testes. These results suggested that dietary Se deficiency exerts significant harmful effects on male reproductive organ and that the intrinsic and extrinsic pathways and the upstream regulators such as p53, Bax, and Bcl-2 were all involved in Se deficiency-induced testicular apoptosis. PMID:26507440

  18. Clonidine-stimulated growth hormone concentrations (cut-off values) measured by immunochemiluminescent assay (ICMA) in children and adolescents with short stature

    PubMed Central

    de Fátima Borges, Maria; Teixeira, Flávia Carolina Cândida; Feltrin, Aline Karin; Ribeiro, Karina Alvarenga; Nascentes, Gabriel Antonio Nogueira; Resende, Elisabete Aparecida Mantovani Rodrigues; Ferreira, Beatriz Pires; Silva, Adriana Paula; Palhares, Heloísa Marcelina Cunha

    2016-01-01

    OBJECTIVES: To establish cut-off values for growth hormone concentrations using clonidine as a secretagogue and an immunochemiluminescent assay as the method of measurement and to analyze the response time as well as the influence of gender, nutritional status and pubertal stage. METHODS: A total of 225 tests were performed in 3 patient groups, categorized as group 1 (normal), group 2 (idiopathic short stature) and group 3 (growth hormone deficiency). Among the 199 disease-free individuals, 138 were prepubertal, and 61 were pubertal. Clonidine (0.1 mg/m2) was orally administered, and the growth hormone level was measured by immunochemiluminescent assay. The growth hormone peak and the difference between the growth hormone peak and the baseline level were then analyzed. Statistical analyses were performed using Student's t-test or the Mann-Whitney test and Kruskal-Wallis test followed by Dunn's post hoc test. Cut-off values were determined using a receiver operating characteristic curve. RESULTS: Group 1 and group 2 had no difference in growth hormone peak, gender, body mass index standard deviation score, or pubertal stage. Group 3 exhibited a significantly lower growth hormone peak than the other groups did. The receiver operating characteristic curve demonstrated that growth hormone concentrations ≥ 3.0 ng/mL defined responsiveness to clonidine. In total, 3.02% of individuals in group 1 and group 2 were considered false positive, i.e., these children lacked growth hormone deficiency and had a peak below 3.0 ng/mL. CONCLUSION: Clonidine-stimulated growth hormone concentrations ≥3 ng/mL, as measured by immunochemiluminescent assay, suggest responsiveness to the stimulus regardless of gender, body mass index standard deviation score or pubertal stage. PMID:27166774

  19. Anti-Müllerian Hormone Deficiency in Females With Fanconi Anemia

    PubMed Central

    Sklavos, Martha M.; Giri, Neelam; Stratton, Pamela; Alter, Blanche P.

    2014-01-01

    Context: In females with Fanconi anemia (FA), infertility is often accompanied by diminished ovarian reserve and hypergonadotropic amenorrhea before the age of 30 years, suggesting primary ovarian insufficiency (POI). POI is typically diagnosed only after perimenopausal symptoms are observed. Objective: The objective of the study was to assess whether serum anti-Müllerian hormone (AMH) levels can serve as a cycle-independent marker for the diagnosis of POI in patients with FA. Design and Setting: This observational study used the National Cancer Institute's inherited bone marrow failure syndrome cohort at the National Institutes of Health Clinical Center. Participants: The study included 22 females with FA, 20 unaffected female relatives of patients with FA, and 21 unrelated healthy females under 41 years of age. Main Outcome Measure: Serum AMH, a marker of ovarian reserve, was measured in all participants. Results: Females with FA had very low AMH levels (median 0.05 ng/mL; range 0–2.32 ng/mL; P < .001) when compared with unaffected relatives (median 2.10 ng/mL; range 0.04–4.73 ng/mL) and unrelated healthy females (median 1.92 ng/mL; range 0.31–6.64 ng/mL). All patients with FA older than 25 years of age were diagnosed with POI and had undetectable AMH levels. Conclusions: AMH deficiency appears to be a shared trait across this heterogeneous FA cohort. Substantially reduced AMH levels in females with FA suggest a primary ovarian defect associated with reduced fertility. Measurement of AMH at the time of FA diagnosis and subsequent monitoring of AMH levels at regular intervals may be useful for the timely management of complications related to POI such as subfertility/infertility, osteoporosis, and menopausal symptoms. PMID:24438373

  20. Difference in growth hormone response to growth hormone-releasing hormone (GHRH) testing following GHRH subacute treatment in normal aging and growth hormone-deficient adults: possible perspectives for therapeutic use of GHRH or its analogs in elderly subjects?

    PubMed

    Iovino, M; Triggiani, V; Giagulli, V A; Iovine, N; Licchelli, B; Resta, F; Sabbà, C; Tafaro, E; Solimando, A; Tommasicchio, A; Guastamacchia, E

    2011-06-01

    The somatotroph axis function shows a decline in the elderly (somatopause). In particular growth hormone (GH) response to GH-releasing hormone (GHRH) is reduced in aged man but less than that observed in GH-deficient adults (GHDAs). Plasma GH response to GHRH (1 µg/kg BW) was significantly lower in four GHDAs than in seven healthy aged men 30, 60, and 90 min after acute GHRH administration. To verify whether a priming regimen might be able to increase the reduced GH response to GHRH, both healthy aged men and GHDA patients underwent repetitive administration of GHRH (100 µg GHRH intravenously as a single morning dose, every 2 days for 12 days). After the GHRH-priming regimen, plasma GH values 30, 60, and 90 min after the acute GHRH test were significantly higher than values at the corresponding time points before priming regimen in healthy aged men but not in GHDA patients. These findings confirmed that somatotroph cells become less sensitive to GHRH with normal aging and demonstrate that repetitive administration of GHRH restores the attenuated response only in healthy aged men but not in GHDA patients. This could support the possible use of GHRH or its analogs instead of recombinant human GH in elderly patients with the advantage of preserving the endogenous pulses of GH with the secretion of the different isoforms of GH. However, concerns arise about the possible role of these molecules in tumorigenesis and tumor growth promotion. PMID:20843274

  1. Growth hormone deficiency predicts cardiovascular risk in young adults treated for acute lymphoblastic leukemia in childhood.

    PubMed

    Link, Katarina; Moëll, Christian; Garwicz, Stanislaw; Cavallin-Ståhl, Eva; Björk, Jonas; Thilén, Ulf; Ahrén, Bo; Erfurth, Eva Marie

    2004-10-01

    Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy, and until recently prophylactic cranial radiotherapy (CRT) was important for achieving long-term survival. Hypothalamic-pituitary hormone insufficiency is a well-recognized consequence of CRT for childhood cancer. Another problem is increased cardiovascular risk, which has been shown in long-term survivors of other childhood cancers. In the only previously reported study on cardiovascular risk after childhood ALL, obesity and dyslipidemia were recorded in a small subgroup treated with CRT, compared with patients treated with chemotherapy. The mechanisms behind the increase in cardiovascular risk in survivors of childhood cancer are not clarified. The aim of the present study was to elucidate mechanisms of increased cardiovascular risk in former childhood ALL patients. A group of 44 ALL survivors (23 males, median age 25 yr, range 19-32 yr at the time of study) treated with CRT (median 24 Gy, 18-30 Gy) at a median age of 5 yr (1-18 yr) and chemotherapy were investigated for prevalence of GH deficiency and cardiovascular risk factors. Comparison was made with controls randomly selected from the general population and individually matched for sex, age, smoking habits, and residence. All patients and controls underwent a GHRH-arginine test, and patients with a peak GH 3.9 microg/liter or greater were further investigated with an additional insulin tolerance test. Significantly higher plasma levels of insulin (P = 0.002), blood glucose (P = 0.01), and serum levels of low-density lipoprotein cholesterol, apolipoprotein (Apo) B, triglycerides, fibrinogen, and leptin (all P

  2. Beyond Stimulus Deprivation: Iron Deficiency and Cognitive Deficits in Postinstitutionalized Children

    ERIC Educational Resources Information Center

    Doom, Jenalee R.; Gunnar, Megan R.; Georgieff, Michael K.; Kroupina, Maria G.; Frenn, Kristin; Fuglestad, Anita J.; Carlson, Stephanie M.

    2014-01-01

    Children adopted from institutions have been studied as models of the impact of stimulus deprivation on cognitive development (Nelson, Bos, Gunnar, & Sonuga-Barke, 2011), but these children may also suffer from micronutrient deficiencies (Fuglestad et al., 2008). The contributions of iron deficiency (ID) and duration of deprivation on…

  3. Crohn's disease and growth deficiency in children and adolescents.

    PubMed

    Gasparetto, Marco; Guariso, Graziella

    2014-10-01

    Nutritional concerns, linear growth deficiency, and delayed puberty are currently detected in up to 85% of patients with Crohn's disease (CD) diagnosed at childhood. To provide advice on how to assess and manage nutritional concerns in these patients, a Medline search was conducted using "pediatric inflammatory bowel disease", "pediatric Crohn's disease", "linear growth", "pubertal growth", "bone health", and "vitamin D" as key words. Clinical trials, systematic reviews, and meta-analyses published between 2008 and 2013 were selected to produce this narrative review. Studies referring to earlier periods were also considered if the data was relevant to our review. Although current treatment strategies for CD that include anti-tumor necrosis factor-α therapy have been shown to improve patients' growth rate, linear growth deficiencies are still common. In pediatric CD patients, prolonged diagnostic delay, high initial activity index, and stricturing/penetrating type of behavior may cause growth deficiencies (in weight and height) and delayed puberty, with several studies reporting that these patients may not reach an optimal bone mass. Glucocorticoids and inflammation inhibit bone formation, though their impact on skeletal modeling remains unclear. Long-term control of active inflammation and an adequate intake of nutrients are both fundamental in promoting normal puberty. Recent evidence suggests that recombinant growth factor therapy is effective in improving short-term linear growth in selected patients, but is of limited benefit for ameliorating mucosal disease and reducing clinical disease activity. The authors conclude that an intense initial treatment (taking a "top-down" approach, with the early introduction of immunomodulatory treatment) may be justified to induce and maintain remission so that the growth of children with CD can catch up, ideally before puberty. Exclusive enteral nutrition has a key role in inducing remission and improving patients

  4. Crohn's disease and growth deficiency in children and adolescents

    PubMed Central

    Gasparetto, Marco; Guariso, Graziella

    2014-01-01

    Nutritional concerns, linear growth deficiency, and delayed puberty are currently detected in up to 85% of patients with Crohn’s disease (CD) diagnosed at childhood. To provide advice on how to assess and manage nutritional concerns in these patients, a Medline search was conducted using “pediatric inflammatory bowel disease”, “pediatric Crohn’s disease”, “linear growth”, “pubertal growth”, “bone health”, and “vitamin D” as key words. Clinical trials, systematic reviews, and meta-analyses published between 2008 and 2013 were selected to produce this narrative review. Studies referring to earlier periods were also considered if the data was relevant to our review. Although current treatment strategies for CD that include anti-tumor necrosis factor-α therapy have been shown to improve patients’ growth rate, linear growth deficiencies are still common. In pediatric CD patients, prolonged diagnostic delay, high initial activity index, and stricturing/penetrating type of behavior may cause growth deficiencies (in weight and height) and delayed puberty, with several studies reporting that these patients may not reach an optimal bone mass. Glucocorticoids and inflammation inhibit bone formation, though their impact on skeletal modeling remains unclear. Long-term control of active inflammation and an adequate intake of nutrients are both fundamental in promoting normal puberty. Recent evidence suggests that recombinant growth factor therapy is effective in improving short-term linear growth in selected patients, but is of limited benefit for ameliorating mucosal disease and reducing clinical disease activity. The authors conclude that an intense initial treatment (taking a “top-down” approach, with the early introduction of immunomodulatory treatment) may be justified to induce and maintain remission so that the growth of children with CD can catch up, ideally before puberty. Exclusive enteral nutrition has a key role in inducing

  5. Fetal and neonatal iron deficiency exacerbates mild thyroid hormone insufficiency effects on male thyroid hormone levels and brain thyroid hormone-responsive gene expression.

    PubMed

    Bastian, Thomas W; Prohaska, Joseph R; Georgieff, Michael K; Anderson, Grant W

    2014-03-01

    Fetal/neonatal iron (Fe) and iodine/TH deficiencies lead to similar brain developmental abnormalities and often coexist in developing countries. We recently demonstrated that fetal/neonatal Fe deficiency results in a mild neonatal thyroidal impairment, suggesting that TH insufficiency contributes to the neurodevelopmental abnormalities associated with Fe deficiency. We hypothesized that combining Fe deficiency with an additional mild thyroidal perturbation (6-propyl-2-thiouracil [PTU]) during development would more severely impair neonatal thyroidal status and brain TH-responsive gene expression than either deficiency alone. Early gestation pregnant rats were assigned to 7 different treatment groups: control, Fe deficient (FeD), mild TH deficient (1 ppm PTU), moderate TH deficient (3 ppm PTU), severe TH deficient (10 ppm PTU), FeD/1 ppm PTU, or FeD/3 ppm PTU. FeD or 1 ppm PTU treatment alone reduced postnatal day 15 serum total T4 concentrations by 64% and 74%, respectively, without significantly altering serum total T3 concentrations. Neither treatment alone significantly altered postnatal day 16 cortical or hippocampal T3 concentrations. FeD combined with 1 ppm PTU treatment produced a more severe effect, reducing serum total T4 by 95%, and lowering hippocampal and cortical T3 concentrations by 24% and 31%, respectively. Combined FeD/PTU had a more severe effect on brain TH-responsive gene expression than either treatment alone, significantly altering Pvalb, Dio2, Mbp, and Hairless hippocampal and/or cortical mRNA levels. FeD/PTU treatment more severely impacted cortical and hippocampal parvalbumin protein expression compared with either individual treatment. These data suggest that combining 2 mild thyroidal insults during development significantly disrupts thyroid function and impairs TH-regulated brain gene expression. PMID:24424046

  6. Need for Comprehensive Hormonal Workup in the Management of Adrenocortical Tumors in Children

    PubMed Central

    Gönç, E. Nazlı; Özön, Zeynep Alev; Çakır, Meltem Didem; Alikaşifoğlu, Ayfer; Kandemir, Nurgün

    2014-01-01

    Ob­jec­ti­ve: Clinical findings do not reflect the excess hormonal status in adrenocortical tumors (ACTs) in children. Identification of abnormal hormone secretion may help provide the tumor marker and delineate those patients with a risk of adrenal suppression following tumor removal. To analyze the impact of complete hormonal assessment regardless of the clinical presentation in hormone-secreting ACTs in childhood. Methods: Association of hormonal workup at diagnosis with the clinical findings and frequency of adrenal suppression postoperatively were analyzed in 18 children with ACT. Results: Seventeen of the 18 patients had functional ACT. Clinical findings suggested isolated virilization and isolated Cushing’s syndrome in 38.8% and 17.6% of patients, respectively. Hormonal workup revealed a frequency of 83.3% for hyperandrogenism. The majority of the tumors (50%) had mixed type hormonal secretion. Hypercortisolism existed in 28.5% of children with isolated virilization and hyperandrogenism was found in 2/3 of children with isolated Cushing’s syndrome. Various androgens other than dehydroepiandrosterone sulfate were also determined to be high in hyperandrogenism. Increased testosterone was a highly prevalent tumor marker. Nine patients (3 with no signs of hypercortisolism) had adrenal suppression following tumor removal which lasted 1-24 months. Conclusion: Complete hormonal workup showed the predominance of mixed hormone-secreting type of tumor in the patients who lacked the appropriate clinical findings and also showed that patients lacking signs of Cushing’s syndrome could have postoperative adrenal suppression. Clinical findings may not reflect the abnormal hormone secretion in all cases and tumor markers as well as risk of postoperative adrenal suppression can best be determined by complete hormonal evaluation at the time of diagnosis. PMID:24932598

  7. Rapid detection of a point mutation in thyroid-stimulating hormone beta-subunit gene causing congenital isolated thyroid-stimulating hormone deficiency.

    PubMed

    Mori, R; Sawai, T; Kinoshita, E; Baba, T; Matsumoto, T; Yoshimoto, M; Tsuji, Y; Satake, Y; Sawada, K

    1991-12-01

    Previous study showed that congenital isolated TSH deficiency in Japan is resulted exclusively from a G-A transition at nucleotide 145 in exon 2 of the TSH beta-subunit gene. All reported cases were from the inbred in Shikoku Island. We describe here a 10-year-old boy with hereditary TSH deficiency in the same area. The patient was born with a weight of 3,225 g to non-consanguineous parents. Evaluation at age 2 months revealed typical manifestations of cretinism without goiter. Serum T4, T3, and TSH values were 2.53 micrograms/dl, 107 ng/dl, and 0.5 microU/ml, respectively. A TRH stimulation test showed no increment of serum TSH value. Other anterior pituitary hormone levels were all within the normal range. Two oligonucleotide primers T1a and T1b were synthesized according to the sequence data. Amplified 169 bp nucleotides in exon 2 of the TSH beta gene with this primer set were digested with MaeI. Both the phenotypically normal brother and normal controls showed only the 169 bp fragment, whereas the proband showed 140 and 29 bp fragments and both parents showed three fragments; 169, 140, and 29 bp. These results were consistent with the point mutation of TSH beta gene in Japanese patients with congenital isolated TSH deficiency. Our PCR method with MaeI digestion contributes to the rapid detection of the homozygous patient and the heterozygous carrier. PMID:1811097

  8. Hormones

    MedlinePlus

    ... the foods you eat Sexual function Reproduction Mood Endocrine glands, which are special groups of cells, make hormones. The major endocrine glands are the pituitary, pineal, thymus, thyroid, adrenal ...

  9. Metabolic Characteristics in Obese Patients Complicated by Mild Thyroid Hormone Deficiency.

    PubMed

    Wang, X; Liu, H; Chen, J; Huang, Y; Li, L; Rampersad, S; Qu, S

    2016-05-01

    The prevalence of subclinical hypothyroidism (SH) is increasing, especially in obese people. The purpose of this study was to evaluate the difference in metabolic profiles between obese patients with mild increased thyrotropin (TSH) or with normal TSH. A total of 219 obese patients were recruited in this cross-sectional study. They were divided into 2 groups: obese patients with normal TSH (0.35-2.5 mU/l) and age-, and body mass index (BMI)-matched obese patients with higher-normal TSH (2.5-5.5 mU/l). We have named it compensatory hypothyroidism or mild thyroid hormone deficiency. Anthropometric data, glucose-lipid metabolism, markers of inflammation, body composition, and thyroid function parameters were measured. Results showed that: 1) The levels of fasting plasma glucose (FPG), high density lipoprotein cholesterol (HDL-C), and 25-hydroxyvitamin D levels were significantly lower in obese patients complicated by mild increased TSH than in obese patients with normal TSH (p<0.05). The fasting insulin (FINS) and C reactive protein (CRP) levels were significantly higher in obese patients complicated by mild increased TSH when compared to the obese patients with normal TSH (p<0.01). Jostel's TSH index (TSHI) and standard TSH index (sTSHI) were significantly higher in obesity with mild increased TSH when compared to obesity with normal TSH (both p<0.001). Thyroid's secretory capacity (GT) was significantly lower in obesity with mild increased TSH when compared to obesity with normal TSH (p<0.001). 2) In the obese patients complicated by mild increased TSH group, serum TSH was significantly positively correlated with ALT, AST and CP (p<0.05). In the obese patients with normal TSH group, serum TSH was significantly positively correlated with UA (p<0.05). In all subjects, serum TSH was significantly positively correlated with ALT, AST, FINS, CP, CRP, and UA (p<0.05), but negatively with DBP, FPG, and HDL-C (p<0.05). 3) There was significant difference of the

  10. Familial idiopathic gonadotropin deficiency not linked to gene for gonadotropin-releasing hormone (GnRH) in Brazilian kindred

    SciTech Connect

    Faraco, J.; Francke, U.; Toledo, S.

    1994-09-01

    Familial idiopathic gonadotropin deficiency (FIGD) is an autosomal recessive disorder which results in failure to develop secondary sexual characteristics. The origin is a hypothalamic defect resulting in insufficient secretion of gonadotropin-releasing hormone GnRH (also called LHRH, luteinizing hormone releasing hormone) and follicle-stimuating hormone (FSH). FIGD has been determined to be a separate entity from Kallmann syndrome which presents with hypogonadism as well as anosmia. The FIGD phenotype appears to be analogous to the phenotype of the hpg (hypogonadal) mouse. Because the hpg phenotype is the result of a structurally abnormal GnRH gene, we have studied the GnRH gene in individuals from a previously reported Brazilian FIGD family. An informative dimorphic marker in the signal peptide sequence of the GnRH gene allowed assessment of linkage between the disease gene and the GnRH locus in this pedigree. We have concluded that the GnRH locus is not linked to the disease-causing mutation in these hypogonadal individuals. Recent evidence suggests that neuropeptide Y (NPY) may play a role in the initiation of puberty. We hypothesize that mutations in NPY may result in failure to secrete GnRH. We have characterized three diallelic frequent-cutter restriction fragment length polymorphisms within the human NPY locus, and are currently using these markers to determine if the NPY gene is linked to, and possibly the site of the disease mutation in this kindred.

  11. Isolated adrenocorticotropic hormone deficiency associated with Hashimoto's disease and thyroid crisis triggered by head trauma. Case report.

    PubMed

    Tanei, Takafumi; Eguchi, Youko; Yamamoto, Yuka; Hirano, Masaki; Takebayashi, Shigenori; Nakahara, Norimoto

    2012-01-01

    A 47-year-old man presented to our hospital after suffering transient loss of consciousness and falling to the floor. On admission, his Glasgow Coma Scale score was 11 (E3V3M5), and he exhibited restlessness. Blood examination revealed hyperthyroidism. Computed tomography showed slight traumatic subarachnoid hemorrhage. He developed fever and tachycardia, and was diagnosed with thyroid crisis. Magnetic resonance imaging showed a brain contusion in the right frontal lobe, and encephalopathy signs in the right frontal and insular cortex. Immunocytochemical examinations suggested Hashimoto's disease, and hormone examinations revealed plasma levels were undetectably low of adrenocorticotropic hormone (ACTH) and low of cortisol. Pituitary stimulation tests showed inadequate plasma ACTH and cortisol response, consistent with isolated ACTH deficiency (IAD). The final diagnosis was IAD associated with Hashimoto's disease. Hydrocortisone replacement therapy was continued, and the patient was nearly free from neurological deficits after 18 months. The neuroimaging abnormalities gradually improved with time. PMID:22278027

  12. Food fortification for addressing iron deficiency in Filipino children: benefits and cost-effectiveness.

    PubMed

    Detzel, Patrick; Wieser, Simon

    2015-01-01

    Iron deficiency is one of the most widespread nutritional disorders in both developing and industrialized countries, making it a global public health concern. Anemia, mainly due to iron deficiency, affects one third of the world's population and is concentrated in women and children below 5 years of age. Iron deficiency anemia has a profound impact on human health and productivity, and the effects of iron deficiency are especially pronounced in the first 1,000 days of life. This critical window of time sets the stage for an individual's future physiological and cognitive health, underscoring the importance of addressing iron deficiency in infants and young children. This review focuses on the use of fortified foods as a cost-effective tool for addressing iron deficiency in infants and young children in the Philippines. PMID:26045326

  13. 'A disease that makes criminals': encephalitis lethargica (EL) in children, mental deficiency, and the 1927 Mental Deficiency Act.

    PubMed

    Ruiz, Violeta

    2015-03-01

    Encephalitis lethargica (EL) was an epidemic that spread throughout Europe and North America during the 1920s. Although it could affect both children and adults alike, there were a strange series of chronic symptoms that exclusively affected its younger victims: behavioural disorders which could include criminal propensities. In Britain, which had passed the Mental Deficiency Act in 1913, the concept of mental deficiency was well understood when EL appeared. However, EL defied some of the basic precepts of mental deficiency to such an extent that amendments were made to the Mental Deficiency Act in 1927. I examine how clinicians approached the sequelae of EL in children during the 1920s, and how their work and the social problem that these children posed eventually led to changes in the legal definition of mental deficiency. EL serves as an example of how diseases are not only framed by the society they emerge in, but can also help to frame and change existing concepts within that same society. PMID:25683195

  14. Prevalence of Iron Deficiency and Anemia among Young Children with Acute Diarrhea in Bhaktapur, Nepal

    PubMed Central

    Chandyo, Ram K.; Ulak, Manjeswori; Adhikari, Ramesh K.; Sommerfelt, Halvor; Strand, Tor A.

    2015-01-01

    Iron deficiency anemia is still common in children under five years of age and may impair their growth and cognitive development. Diarrhea is the second most common reason for seeking medical care for young children in Nepal. However, neither screening programs nor effective preventive measures for anemia and iron deficiencies are in place among children with diarrhea in many developing countries. The aims of this study were to determine the prevalence of anemia and iron deficiency and explore their associations with clinical, socioeconomic, and anthropometric parameters in Nepalese children. This was a cross-sectional study based on 1232 children, six to 35 months old, with acute diarrhea participating in a zinc supplementation trial. The mean (SD) hemoglobin was 11.2 g/dL (1.2). Anemia was found in 493 children (40%); this estimate increased to 641 (52%) when we adjusted for the altitude of the study area (hemoglobin <11.3 g/dL). One in every three children had depleted iron stores and 198 (16%) of the children had both depleted iron stores and anemia, indicating iron deficiency anemia. The prevalence of anemia among children presenting with acute diarrhea was high but the degree of severity was mainly mild or moderate. Iron deficiency explained less than half of the total anemia, indicating other nutritional deficiencies inducing anemia might be common in this population. PMID:27417782

  15. Skin manifestations of nutritional deficiency disease in children: modern day contexts.

    PubMed

    Lee, Lara Wine; Yan, Albert C

    2012-12-01

    Nutritional deficiency syndromes, such as scurvy, pellagra, and beriberi are of historical significance but have largely disappeared from modern society. However, certain populations of children in modern society are at risk of severe nutritional complications. The rarity of these syndromes and lack of understanding about modern-day risk factors for nutritional deficiency often delays diagnosis. Dermatologists must maintain an appropriate index of suspicion for these characteristic syndromes as many of the deficiency states present with cutaneous manifestations. Here we review the cutaneous manifestations of macronutrient and micronutrient deficiency syndromes as well as those populations of children that remain at risk for developing severe disease. PMID:23171006

  16. Spino-Cerebellar Degeneration, Hormonal Disorder, Hypogonadism, Deaf Mutism and Mental Deficiency

    ERIC Educational Resources Information Center

    Sylvester, P. E.

    1972-01-01

    Post mortem examinations were done on two adult siblings (one female and one male) who had been clinically described as suffering from mental handicap, deaf mutism, ataxia, hypogonadism, and hormonal disorders. (DB)

  17. Neurocognitive outcomes of children secondary to mild iodine deficiency in pregnant women.

    PubMed

    Caron, Philippe

    2015-07-01

    Iodine deficiency is the most important preventable cause of brain damage worldwide. During pregnancy, severe iodine deficiency causes endemic cretinism, whereas mild-to-moderate iodine deficiency impairs neurocognitive function of the offspring. Numerous reports demonstrate the impact of iodine supplementation on prevention of cretinism, and recent studies evaluate the effects of iodine prophylaxis on neurocognitive development in children of women with mild-to-moderate iodine deficiency. Iodine prophylaxis is generally well tolerated without side effects for the pregnant women and the offspring. In France, the iodine status was recently considered as satisfactory in children and adult population, but regional studies conducted during the last two decades have shown that healthy women are mild-to-moderately iodine deficient during pregnancy. According to recent World Heath Organization guidelines, systematic iodine prophylaxis is recommended in women planning a pregnancy, during gestation and lactation in order to prevent maternal, neonatal and infantile consequences of mild-to-moderate iodine deficiency. PMID:25934357

  18. Combinatorial effects of malaria season, iron deficiency, and inflammation determine plasma hepcidin concentration in African children

    PubMed Central

    Armitage, Andrew E.; Khandwala, Shivani; Mwangi, Tabitha W.; Uyoga, Sophie; Bejon, Philip A.; Williams, Thomas N.; Prentice, Andrew M.; Drakesmith, Hal

    2014-01-01

    Hepcidin is the master regulatory hormone that governs iron homeostasis and has a role in innate immunity. Although hepcidin has been studied extensively in model systems, there is less information on hepcidin regulation in global health contexts where iron deficiency (ID), anemia, and high infectious burdens (including malaria) all coexist but fluctuate over time. We evaluated iron status, hepcidin levels, and determinants of hepcidin in 2 populations of rural children aged ≤8 years, in the Gambia and Kenya (total n = 848), at the start and end of a malaria season. Regression analyses and structural equation modeling demonstrated, for both populations, similar combinatorial effects of upregulating stimuli (iron stores and to a lesser extent inflammation) and downregulating stimuli (erythropoietic drive) on hepcidin levels. However, malaria season was also a significant factor and was associated with an altered balance of these opposing factors. Consistent with these changes, hepcidin levels were reduced whereas the prevalence of ID was increased at the end of the malaria season. More prevalent ID and lower hepcidin likely reflect an enhanced requirement for iron and an ability to efficiently absorb it at the end of the malaria season. These results, therefore, have implications for ID and malaria control programs. PMID:24596418

  19. Hormone-sensitive lipase deficiency suppresses insulin secretion from pancreatic islets of Lep{sup ob/ob} mice

    SciTech Connect

    Sekiya, Motohiro; Yahagi, Naoya; Tamura, Yoshiaki; Okazaki, Hiroaki; Igarashi, Masaki; Ohta, Keisuke; Takanashi, Mikio; Kumagai, Masayoshi; Takase, Satoru; Nishi, Makiko; Takeuchi, Yoshinori; Izumida, Yoshihiko; Kubota, Midori; Ohashi, Ken; Iizuka, Yoko; Yagyu, Hiroaki; Gotoda, Takanari; Nagai, Ryozo; Shimano, Hitoshi; Yamada, Nobuhiro; and others

    2009-09-25

    It has long been a matter of debate whether the hormone-sensitive lipase (HSL)-mediated lipolysis in pancreatic {beta}-cells can affect insulin secretion through the alteration of lipotoxicity. We generated mice lacking both leptin and HSL (Lep{sup ob/ob}/HSL{sup -/-}) and explored the role of HSL in pancreatic {beta}-cells in the setting of obesity. Lep{sup ob/ob}/HSL{sup -/-} developed elevated blood glucose levels and reduced plasma insulin levels compared with Lep{sup ob/ob}/HSL{sup +/+} in a fed state, while the deficiency of HSL did not affect glucose homeostasis in Lep{sup +/+} background. The deficiency of HSL exacerbated the accumulation of triglycerides in Lep{sup ob/ob} islets, leading to reduced glucose-stimulated insulin secretion. The deficiency of HSL also diminished the islet mass in Lep{sup ob/ob} mice due to decreased cell proliferation. In conclusion, HSL affects insulin secretary capacity especially in the setting of obesity.

  20. Malondialdehyde, antioxidant enzymes, and renal tubular functions in children with iron deficiency or iron-deficiency anemia.

    PubMed

    Altun, Demet; Kurekci, Ahmet Emin; Gursel, Orhan; Hacıhamdioglu, Duygu Ovunc; Kurt, Ismail; Aydın, Ahmet; Ozcan, Okan

    2014-10-01

    We aimed to investigate the effects of iron deficiency (ID) or iron-deficiency anemia (IDA) on oxidative stress and renal tubular functions before and after treatment of children. A total of 30 children with a diagnosis of IDA constituted the IDA group and 32 children with a diagnosis of ID constituted the ID group. Control group consisted 38 age-matched children. Serum ferritin, soluble transferrin receptor (sTfR), serum, and urinary sodium (Na), potassium (K), calcium (Ca), phosphorus (P), creatinine (Cr), uric acid (UA), urinary N-acetyl-β-D-glucosaminidase (NAG) levels, and intra-erythrocyte malondialdehyde (MDA), catalase (CAT), superoxide dismutase (SOD), and glutathione peroxidase (GSH-Px) levels were measured before and after iron therapy in the IDA and ID groups, whereas it was studied once in the control group. We have divided the study group in groups according to age (infants <2 years, children 3-9 years, and adolescents 10-15 years). Patients with IDA (infant, adolescent) and ID (infant, children, and adolescent) had a significantly high level of MDA in post-treatment period in comparison to those of healthy control. Patients with IDA (children, adolescent) and ID (infant, children) had a significantly high level of pre-treatment GSH-Px than controls. Post-treatment SOD was lower in IDA (children and adolescent) groups than control and post-treatment CAT was lower in IDA and ID (adolescent) groups than control. These findings show that ferrous sulfate used in the treatment of ID or IDA could lead to oxidative stress; however, a marked deterioration of in proximal renal tubular functions was not seen. PMID:25099508

  1. Induction of chronic growth hormone deficiency by anti-GH serum

    NASA Technical Reports Server (NTRS)

    Grindeland, R. E.; Smith, A. T.; Ellis, S.; Evans, E. S.

    1974-01-01

    The observations reported indicate that the growth rate of neonatal rats can be specifically inhibited for at least 78 days following the administration of antisera against growth hormone (GH) for only four days after birth. The inhibition can be correlated with a marked deficit of tibial growth promoting activity in the pituitary but not with the plasma concentrations of immuno-reactive GH.

  2. Comparative Evaluation of Iron Deficiency among Obese and Non-obese Children

    PubMed Central

    Sharif, MR; Madani, M; Tabatabaie, F

    2014-01-01

    Background Obese children are at the risk of micronutrient deficiency especially iron deficiency. Given the importance of iron deficiency in this age group and considering the existing discrepancies, present study was performed with the aim of evaluating iron deficiency in obese children. Material and Method This study was conducted, in the form of a case-control study, on 100 children aged between 5 to 15 during June and November 2013 in Kashan. Cases consisted of 50 obese children and controls were 50 children who were not obese.Blood sample was drawn to check for serum iron, total iron binding capacity (TIBC) by biochemistry method and plasma ferritin by ELISA method. The obtained data were entered into SPSS software version 16 and statistically analyzed. P < 0.05 was identified as statistically significance. Results The mean values of serum iron were 52.38 and 64.50 microg/dL for the case and control groups (P<0.02). TIBC levels in obese and non-obese Children were 434.80 and 382.28 microg/dL (P<0.008). The ferritin level in the study group was 70.56 versus 68.06 ng/ml in the control group (P=0.79). In the obese children group, 8.3% (n=2) of children with iron deficiency had ferritin levels less than 15 while in control group 100% (n=14) of iron deficient children had ferritin levels below 15 (P<0.001). Conclusion In our study, mean serum iron levels were lower among obese children in comparison with control group. However, ferritin concentrations were similar in both groups. It is supposed that due to inflammatory state caused by obesity, serum ferritin levels are naturally higher in obese people. It is suggested that higher levels of ferritin considered as normal reference values in obese people. PMID:25598956

  3. Prevalence and correlates of vitamin K deficiency in children with inflammatory bowel disease.

    PubMed

    Nowak, Jan K; Grzybowska-Chlebowczyk, Urszula; Landowski, Piotr; Szaflarska-Poplawska, Anna; Klincewicz, Beata; Adamczak, Daria; Banasiewicz, Tomasz; Plawski, Andrzej; Walkowiak, Jaroslaw

    2014-01-01

    Although vitamin K deficiency has been implicated in adult inflammatory bowel disease (IBD), its prevalence in pediatric IBD remains unknown. We carried out a cross-sectional study in 63 children with Crohn's disease (CD) and 48 with ulcerative colitis (UC) to assess the prevalence of vitamin K deficiency and to search for potential correlation between vitamin K status and pediatric IBD activity. Vitamin K status was assessed using protein induced by vitamin K absence-II (PIVKA-II; ELISA). Prevalence of vitamin K deficiency was 54.0% in CD and 43.7% in UC. Vitamin K deficiency was more common in patients with higher CD activity, in CD patients with higher mass Z-scores, and less common among children with CD treated with infliximab. Relation of vitamin K deficiency to pediatric IBD clinical course and treatment demand further research. PMID:24759680

  4. Multiple endocrinopathies (growth hormone deficiency, autoimmune hypothyroidism and diabetes mellitus) in Kearns-Sayre syndrome.

    PubMed

    Berio, A; Piazzi, A

    2013-01-01

    Kearns-Sayre syndrome is characterized by onset before 20 years, chronic progressive external opthalmoplegia, pigmentary retinal degeneration, and ataxia (and/or hearth block, and/or high protein content in the cerebrospinal fluid) in the presence of mtDNA rearrangements. Multiple endocrine dysfunction associated with this syndrome was rarely reported. In this paper, the Authors report on a female patient with Kearns-Sayre syndrome with large heteroplasmic mtDNA deletion, absence of cytochrome c oxidase in many muscle fibers, partial GH deficiency, hypothyroidism and subsequently insulin dependent diabetes mellitus (IDDM). Anti-thyroid peroxidase and antithyreoglobulin antibodies were present in high titer in serum while anti-islet cell antibodies were absent. The patient developed thyroiditis with Hashimoto encephalopathy. The presence of GH deficiency, autoimmune thyroiditis with hypothyroidism and IDDM distinguishes this case from others and confirms the association of Kearns-Sayre syndrome with multiple endocrine dysfunction. Hashimoto encephalopathy and anti-thyroideal antibodies suggest that in this patient, predisposed by a genetic factor (a mitochondrial deletion) anti-thyroideal antibodies may have contributed to the hypothyroidism and, by interfering with cerebral mitochondrial function, may have caused the encephalopathy. GH deficiency and IDDM can be attributed to oxidative phosphorylation deficiency but the autoimmunity may also have played a role in the production of glandular insufficiencies. It seems important to search for endocrine autoimmunity in every case of KSS. PMID:23947115

  5. Hormone replacement therapy in children: The use of growth hormone and IGF-I.

    PubMed

    Pfäffle, Roland

    2015-06-01

    Recombinant human GH (rhGH) has been available since 1985. This article gives an overview, what has been achieved over the past 30 years in respect to optimization of rhGH treatment for the individual child with GH deficiency and what are the safety issues concerned with this treatment. In the last twenty years significant scientific progress has been made in the diagnosis of GH deficiency, the genetic disorders that are associated with pituitary GH deficiency and the genetics that influence growth in general. On the other hand rhGH is not only used in states of GH deficiency but also various conditions without a proven GH deficiency by classical standards. Clinical studies that investigated both the genetics of growth and the individual responses to rhGH therapy in these patient populations were able to refine our concept about the physiology of normal growth. In most patients under rhGH treatment there is a considerable short-term effect, however the overall gain in growth obtained by a long-term treatment until final height still remains a matter of debate in some of the conditions treated. Also first studies on the long-term safety risks of rhGH treatment have raised the question whether this treatment is similarly safe for all the patient groups eligible for such a treatment. Therefore even in the face of a longstanding safety record of this drug replacement therapy the discussion about the right cost and risk to benefit ratio is continuing. Consequently there is still a need for carefully conducted long-term studies that use modern anthropometric, genetic, and laboratory techniques in order to provide the necessary information for clinicians to select the patients that will benefit best from this valuable treatment without any long term risk. PMID:26051295

  6. Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.

    PubMed

    Tamburrino, Federica; Gibertoni, Dino; Rossi, Cesare; Scarano, Emanuela; Perri, Annamaria; Montanari, Francesca; Fantini, Maria Pia; Pession, Andrea; Tartaglia, Marco; Mazzanti, Laura

    2015-11-01

    RASopathies are developmental disorders caused by heterozygous germline mutations in genes encoding proteins in the RAS-MAPK signaling pathway. Reduced growth is a common feature. Several studies generated data on growth, final height (FH), and height velocity (HV) after growth hormone (GH) treatment in patients with these disorders, particularly in Noonan syndrome, the most common RASopathy. These studies, however, refer to heterogeneous cohorts in terms of molecular information, GH status, age at start and length of therapy, and GH dosage. This work reports growth data in 88 patients affected by RASopathies with molecularly confirmed diagnosis, together with statistics on body proportions, pubertal pattern, and FH in 33, including 16 treated with GH therapy for proven GH deficiency. Thirty-three patients showed GH deficiency after pharmacological tests, and were GH-treated for an average period of 6.8 ± 4.8 years. Before starting therapy, HV was -2.6 ± 1.3 SDS, and mean basal IGF1 levels were -2.0 ± 1.1 SDS. Long-term GH therapy, starting early during childhood, resulted in a positive height response compared with untreated patients (1.3 SDS in terms of height-gain), normalizing FH for Ranke standards but not for general population and Target Height. Pubertal timing negatively affected pubertal growth spurt and FH, with IGF1 standardized score increased from -2.43 to -0.27 SDS. During GH treatment, no significant change in bone age velocity, body proportions, or cardiovascular function was observed. PMID:26227443

  7. Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay.

    PubMed

    Rodinová, M; Trefilová, E; Honzík, T; Tesařová, M; Zeman, J; Hansíková, H

    2014-01-01

    Cytochrome c oxidase (CIV) deficiency is among the most common childhood mitochondrial disorders. The diagnosis of this deficiency is complex, and muscle biopsy is used as the gold standard of diagnosis. Our aim was to minimize the patient burden and to test the use of a dipstick immunocapture assay (DIA) to determine the amount of CIV in non-invasively obtained buccal epithelial cells. Buccal smears were obtained from five children with Leigh syndrome including three children exhibiting a previously confirmed CIV deficiency in muscle and fibroblasts and two children who were clinical suspects for CIV deficiency; the smear samples were analysed using CI and CIV human protein quantity dipstick assay kits. Samples from five children of similar age and five adults were used as controls. Analysis of the controls demonstrated that only samples of buccal cells that were frozen for a maximum of 4 h after collection provide accurate results. All three patients with confirmed CIV deficiency due to mutations in the SURF1 gene exhibited significantly lower amounts of CIV than the similarly aged controls; significantly lower amounts were also observed in two new patients, for whom later molecular analysis also confirmed pathologic mutations in the SURF1 gene. We conclude that DIA is a simple, fast and sensitive method for the determination of CIV in buccal cells and is suitable for the screening of CIV deficiency in non-invasively obtained material from children who are suspected of having mitochondrial disease. PMID:25629267

  8. Growth Hormone: Use and Abuse

    MedlinePlus

    ... than children of the same age), such as chronic kidney disease, Turner syndrome, and Prader-Willi syndrome In adults, GH is used to treat • Growth hormone deficiency • Muscle wasting (loss of muscle tissue) from HIV • Short bowel ...

  9. Mathematics Deficiencies in Children with Very Low Birth Weight or Very Preterm Birth

    ERIC Educational Resources Information Center

    Taylor, H. Gerry; Espy, Kimberly Andrews; Anderson, Peter J.

    2009-01-01

    Children with very low birth weight (VLBW, less than 1500 g) or very preterm birth (VPTB, less than 32 weeks gestational age or GA) have more mathematics disabilities or deficiencies (MD) and higher rates of mathematics learning disabilities (MLD) than normal birth weight term-born children (NBW, greater than 2500 g and greater than 36 weeks GA).…

  10. Plasma Amino Acids Profiles in Children with Autism: Potential Risk of Nutritional Deficiencies.

    ERIC Educational Resources Information Center

    Arnold, Georgianne L.; Hyman, Susan L.; Mooney, Robert A.; Kirby, Russell S.

    2003-01-01

    The plasma amino acid profiles of 10 children with autism on gluten and casein restricted diets and 26 on unrestricted diets were reviewed. There was a trend for the children on restricted diets to have an increased prevalence of essential amino acid deficiencies and lower plasma levels of essential acids. (Contains references.) (Author/CR)

  11. Can Maori Children Really Be Positioned as "Deficient" Learners for Reading English?

    ERIC Educational Resources Information Center

    Harris, Fleur

    2009-01-01

    Maori are the indigenous people of New Zealand. Since British colonial settlement in the early 1800s, Maori children have been predominantly educated in an English-speaking system dominated by colonial governance. In this institution, Maori children have been constructed as deficient learners, primarily in relation to a colonial curriculum taught…

  12. Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.

    PubMed

    Ziemnicka, K; Budny, B; Drobnik, K; Baszko-Błaszyk, D; Stajgis, M; Katulska, K; Waśko, R; Wrotkowska, E; Słomski, R; Ruchała, M

    2016-08-01

    The role of genetic background in childhood-onset combined pituitary hormone deficiency (CPHD) has been extensively studied. The major contributors are the PROP1, POU1F1, LHX3, LHX4 and HESX1 genes coding transcription factors implicated in pituitary organogenesis. The clinical consequences of mutations encompass impaired synthesis of a growth hormone (GH) and one or more concurrent pituitary hormones (i.e. LH, FSH, TSH, PRL). Manifestation of the disorder may vary due to various mutation impacts on the final gene products or an influence of environmental factors during pituitary organogenesis. We describe the clinical and molecular characteristics of two brothers aged 47 and 39 years presenting an uncommon manifestation of congenital hypopituitarism. Sequencing of the PROP1, POU1F1, LHX3, LHX4 and HESX1 genes was performed to confirm the genetic origin of the disorder. A compound heterozygosity in the PROP1 gene has been identified for both probands. The first change represents a mutational hot spot (c.150delA, p.R53fsX164), whereas the second is a novel alteration (p.R112X) that leads to protein disruption. Based on precise genetic diagnosis, an in silico prediction of a p.R112X mutation on protein architecture was performed. The resulting clinical phenotype was surprisingly distinct compared to most patients with genetic alterations in PROP1 reported in the current literature. This may be caused by a residual activity of a newly identified p.R112X protein that preserves over 70 % of the homeodomain structure. This examination may confirm a key role of a DNA-binding homeodomain in maintaining PROP1 functionality and suggests a conceivable explanation of an unusual phenotype. PMID:26608600

  13. Sulphur limitation and early sulphur deficiency responses in poplar: significance of gene expression, metabolites, and plant hormones

    PubMed Central

    Honsel, Anne; Kojima, Mikiko; Haas, Richard; Frank, Wolfgang; Sakakibara, Hitoshi; Herschbach, Cornelia; Rennenberg, Heinz

    2012-01-01

    The influence of sulphur (S) depletion on the expression of genes related to S metabolism, and on metabolite and plant hormone contents was analysed in young and mature leaves, fine roots, xylem sap, and phloem exudates of poplar (Populus tremula×Populus alba) with special focus on early consequences. S depletion was applied by a gradual decrease of sulphate availability. The observed changes were correlated with sulphate contents. Based on the decrease in sulphate contents, two phases of S depletion could be distinguished that were denominated as ‘S limitation’ and ‘early S deficiency’. S limitation was characterized by improved sulphate uptake (enhanced root-specific sulphate transporter PtaSULTR1;2 expression) and reduction capacities (enhanced adenosine 5′-phosphosulphate (APS) reductase expression) and by enhanced remobilization of sulphate from the vacuole (enhanced putative vacuolar sulphate transporter PtaSULTR4;2 expression). During early S deficiency, whole plant distribution of S was impacted, as indicated by increasing expression of the phloem-localized sulphate transporter PtaSULTR1;1 and by decreasing glutathione contents in fine roots, young leaves, mature leaves, and phloem exudates. Furthermore, at ‘early S deficiency’, expression of microRNA395 (miR395), which targets transcripts of PtaATPS3/4 (ATP sulphurylase) for cleavage, increased. Changes in plant hormone contents were observed at ‘early S deficiency’ only. Thus, S depletion affects S and plant hormone metabolism of poplar during ‘S limitation’ and ‘early S deficiency’ in a time series of events. Despite these consequences, the impact of S depletion on growth of poplar plants appears to be less severe than in Brassicaceae such as Arabidopsis thaliana or Brassica sp. PMID:22162873

  14. Screening for Hormonal, Monogenic, and Syndromic Disorders in Obese Infants and Children

    PubMed Central

    Mason, Kelly; Page, Laura; Balikcioglu, Pinar Gumus

    2015-01-01

    The prevalence of pediatric obesity in the United States is nearly 17%. Most cases are “exogenous”, resulting from excess energy intake relative to energy expenditure over a prolonged period of time. However, some cases of obesity are “endogenous”, associated with hormonal, genetic, or syndromic disorders such as hypothyroidism, Cushing’s syndrome, growth hormone deficiency, defective leptin signaling, mutations in the melanocortin 4 receptor, and Prader-Willi and Bardet-Biedl syndromes. This article reviews the hormonal, monogenic, and syndromic causes of childhood obesity and identifies critical features that distinguish “endogenous” obesity disorders from the more common exogenous obesity. Findings that raise suspicion for endogenous obesity include onset in infancy, lack of satiety, poor linear growth, dysmorphic features, and cognitive dysfunction. Selection and interpretation of appropriate laboratory tests and indications for subspecialist referral are also discussed. PMID:25198446

  15. Deficiency of female sex hormones augments PGE2 and CGRP levels within midbrain periaqueductal gray.

    PubMed

    Wang, Dan; Zhao, Jiuhan; Wang, Jian; Li, Jingqing; Yu, Shengyuan; Guo, Xinjin

    2014-11-15

    The midbrain periaqueductal gray (PAG) is a substantial component of the descending modulatory network to control on nociceptive transmission and autonomic functions. Also, accumulated evidence has suggested that the PAG plays a crucial role in regulating migraine headache, a neurovascular disorder. The purpose of this study was to employ ELISA methods to examine the levels of prostaglandin E2 (PGE2) and calcitonin-gene related peptide (CGRP) in the PAG of rats who received ovariectomy and subsequent hormone replacement with 17β-estradiol, progesterone, or the combination of 17β-estradiol and progesterone. In addition, using Western blot analysis we examined expression of subtypes of PGE2 receptor in the PAG of rats with different conditions of female sex hormones. Results of our study demonstrated that lack of female sex hormones significantly increased the levels of PGE2 and CGRP in the dorsolateral PAG (P < 0.05) as well as expression of PGE2 EP3 receptors (P < 0.05). Furthermore, a liner relationship was observed between PGE2 and CGRP in the PAG (r = 092, P < 0.01). Also, inhibiting EP3 receptors by chronic administration of L-798106 (EP3 antagonist) into the lateral ventricles significantly attenuated expression of CGRP in the PAG of ovariectomized animals (P < 0.05 vs. vehicle control). Overall, our findings for the first time show that (1) circulating 17β-estradiol and/or progesterone influences the levels of PGE2 and CGRP in the PAG; (2) a lower level of 17β-estradiol and/or progesterone augments PGE2 and its EP3 receptor; and (3) PGE2 plays a role in regulating expression of CGRP in the PAG. PMID:25175853

  16. Iron deficiency associated with higher blood lead in children living in contaminated environments.

    PubMed Central

    Bradman, A; Eskenazi, B; Sutton, P; Athanasoulis, M; Goldman, L R

    2001-01-01

    The evidence that iron deficiency increases lead child exposure is based primarily on animal data and limited human studies, and some of this evidence is contradictory. No studies of iron status and blood lead levels in children have accounted for environmental lead contamination and, therefore, the source of their exposure. Thus, no studies have directly determined whether iron deficiency modifies the relationship of environmental lead and blood lead. In this study, we compared blood lead levels of iron-deficient and iron-replete children living in low, medium, or highly contaminated environments. Measurements of lead in paint, soil, dust, and blood, age of housing, and iron status were collected from 319 children ages 1-5. We developed two lead exposure factors to summarize the correlated exposure variables: Factor 1 summarized all environmental measures, and Factor 2 was weighted for lead loading of house dust. The geometric mean blood lead level was 4.9 microg/dL; 14% exceeded 10 microg/dL. Many of the children were iron deficient (24% with ferritin < 12 ng/dL). Seventeen percent of soil leads exceeded 500 microg/g, and 23% and 63% of interior and exterior paint samples exceeded 5,000 microg/g. The unadjusted geometric mean blood lead level for iron-deficient children was higher by 1 microg/dL; this difference was greater (1.8 microg/dL) after excluding Asians. Blood lead levels were higher for iron-deficient children for each tertile of exposure as estimated by Factors 1 and 2 for non-Asian children. Elevated blood lead among iron-deficient children persisted after adjusting for potential confounders by multivariate regression; the largest difference in blood lead levels between iron-deficient and -replete children, approximately 3 microg/dL, was among those living in the most contaminated environments. Asian children had a paradoxical association of sufficient iron status and higher blood lead level, which warrants further investigation. Improving iron status

  17. Adipose Triglyceride Lipase and Hormone-Sensitive Lipase Are Involved in Fat Loss in JunB-Deficient Mice

    PubMed Central

    Pinent, Montserrat; Prokesch, Andreas; Hackl, Hubert; Voshol, Peter J.; Klatzer, Ariane; Walenta, Evelyn; Panzenboeck, Ute; Kenner, Lukas; Trajanoski, Zlatko; Hoefler, Gerald

    2011-01-01

    Proteins of the activator protein-1 family are known to have roles in many physiological processes such as proliferation, apoptosis, and inflammation. However, their role in fat metabolism has yet to be defined in more detail. Here we study the impact of JunB deficiency on the metabolic state of mice. JunB knockout (JunB-KO) mice show markedly decreased weight gain, reduced fat mass, and a low survival rate compared with control mice. If fed a high-fat diet, the weight gain of JunB-KO mice is comparable to control mice and the survival rate improves dramatically. Along with normal expression of adipogenic marker genes in white adipose tissue (WAT) of JunB-KO mice, this suggests that adipogenesis per se is not affected by JunB deficiency. This is supported by in vitro data, because neither JunB-silenced 3T3-L1 cells nor mouse embryonic fibroblasts from JunB-KO mice show a change in adipogenic potential. Interestingly, the key enzymes of lipolysis, adipose triglyceride lipase and hormone-sensitive lipase, were significantly increased in WAT of fasted JunB-KO mice. Concomitantly, the ratio of plasma free fatty acids per gram fat mass was increased, suggesting an elevated lipolytic rate under fasting conditions. Furthermore, up-regulation of TNFα and reduced expression of perilipin indicate that this pathway is also involved in increased lipolytic rate in these mice. Additionally, JunB-KO mice are more insulin sensitive than controls and show up-regulation of lipogenic genes in skeletal muscle, indicating a shuttling of energy substrates from WAT to skeletal muscle. In summary, this study provides valuable insights into the impact of JunB deficiency on the metabolic state of mice. PMID:21540289

  18. The testicular form of hormone-sensitive lipase HSLtes confers rescue of male infertility in HSL-deficient mice.

    PubMed

    Vallet-Erdtmann, Virginie; Tavernier, Geneviève; Contreras, Juan Antonio; Mairal, Aline; Rieu, Cécile; Touzalin, Anne-Marie; Holm, Cecilia; Jégou, Bernard; Langin, Dominique

    2004-10-01

    Inactivation of the hormone-sensitive lipase gene (HSL) confers male sterility with a major defect in spermatogenesis. Several forms of HSL are expressed in testis. HSLtes mRNA and protein are found in early and elongated spermatids, respectively. The other forms are expressed in diploid germ cells and interstitial cells of the testis. To determine whether the absence of the testis-specific form of HSL, HSLtes, was responsible for the infertility in HSL-null mice, we generated transgenic mice expressing HSLtes under the control of its own promoter. The transgenic animals were crossed with HSL-null mice to produce mice deficient in HSL in nongonadal tissues but expressing HSLtes in haploid germ cells. Cholesteryl ester hydrolase activity was almost completely blunted in HSL-deficient testis. Mice with one allele of the transgene showed an increase in enzymatic activity and a small elevation in the production of spermatozoa. The few fertile hemizygous male mice produced litters of very small to small size. The presence of the two alleles led to a doubling in cholesteryl ester hydrolase activity, which represented 25% of the wild type values associated with a qualitatively normal spermatogenesis and a partial restoration of sperm reserves. The fertility of these mice was totally restored with normal litter sizes. In line with the importance of the esterase activity, HSLtes transgene expression reversed the cholesteryl ester accumulation observed in HSL-null mice. Therefore, expression of HSLtes and cognate cholesteryl ester hydrolase activity leads to a rescue of the infertility observed in HSL-deficient male mice. PMID:15292223

  19. Cardiovascular risk in adult hypopituitaric patients with growth hormone deficiency: is there a role for vitamin D?

    PubMed

    Savanelli, Maria Cristina; Scarano, Elisabetta; Muscogiuri, Giovanna; Barrea, Luigi; Vuolo, Laura; Rubino, Manila; Savastano, Silvia; Colao, Annamaria; Di Somma, Carolina

    2016-04-01

    Hypovitaminosis D represent an environmental risk factors for cardiovascular (CV) disease. To investigate the prevalence of hypovitaminosis D and the correlation between GH/IGF-I deficiency and hypovitaminosis D with CV risk in GH deficiency (GHD) patients. A link between these hormones has been shown. Forty-one hypopituitaric patients with GHD (22 males, age 18-84 years) and 41 controls were enrolled in the study. Anthropometric parameters, blood pressure, glucose and lipid profile, parathyroid hormone (PTH), 25(OH) vitamin D (vitamin D), metabolic syndrome (MS), GH peak after GHRH + ARG, IGF-I, and standard deviation score (SDS) of IGF-I (zIGF-I) were assessed. Vitamin D levels were lower in patients than in controls (21.3 ± 12.3 vs. 28.2 ± 9.4, p = 0.006). Deficiency was found in 51 % of patients versus 14.6 % of controls (p < 0.01), insufficiency in 26.8 versus 41.4 % (p = 0.269) and normal vitamin D levels in 21.9 versus 43.9 % (p = 0.060). The prevalence of dyslipidemia was 51.2 % in patients versus 12.1 % in controls (p < 0.001), type 2 diabetes mellitus (DM) was 7.3 versus 17 % (p = 0.292), hypertension was 44 versus 22 % (p = 0.060), and MS was 17 versus 14.6 % (p = 0.957). In patients, an association was found between the presence of hypovitaminosis D and the prevalence of dyslipidemia, hypertension and MS and between zIGF-I and the prevalence of hypertension. Hypovitaminosis D was the most powerful predictor of the prevalence of dyslipidemia and hypertension. GHD patients have an increased prevalence of hypovitaminosis D compared with controls. The presence of hypovitaminosis D was the most powerful predictor of the prevalence of dyslipidemia and hypertension in GHD patients, suggesting the involvement of both factors in the CV risk in these patients. PMID:26511949

  20. Iron, Anemia, and Iron Deficiency Anemia among Young Children in the United States.

    PubMed

    Gupta, Priya M; Perrine, Cria G; Mei, Zuguo; Scanlon, Kelley S

    2016-01-01

    Iron deficiency and anemia are associated with impaired neurocognitive development and immune function in young children. Total body iron, calculated from serum ferritin and soluble transferrin receptor concentrations, and hemoglobin allow for monitoring of the iron and anemia status of children in the United States. The purpose of this analysis is to describe the prevalence of iron deficiency (ID), anemia, and iron deficiency anemia (IDA) among children 1-5 years using data from the 2007-2010 National Health and Nutrition Examination Survey (NHANES). Prevalence of ID, anemia, and IDA among children 1-5 years was 7.1% (5.5, 8.7), 3.2% (2.0, 4.3), and 1.1% (0.6, 1.7), respectively. The prevalence of both ID and anemia were higher among children 1-2 years (p < 0.05). In addition, 50% of anemic children 1-2 years were iron deficient. This analysis provides an update on the prevalence of ID, anemia, and IDA for a representative sample of US children. Our results suggest little change in these indicators over the past decade. Monitoring of ID and anemia is critical and prevention of ID in early childhood should remain a public health priority. PMID:27249004

  1. Iron, Anemia, and Iron Deficiency Anemia among Young Children in the United States

    PubMed Central

    Gupta, Priya M.; Perrine, Cria G.; Mei, Zuguo; Scanlon, Kelley S.

    2016-01-01

    Iron deficiency and anemia are associated with impaired neurocognitive development and immune function in young children. Total body iron, calculated from serum ferritin and soluble transferrin receptor concentrations, and hemoglobin allow for monitoring of the iron and anemia status of children in the United States. The purpose of this analysis is to describe the prevalence of iron deficiency (ID), anemia, and iron deficiency anemia (IDA) among children 1–5 years using data from the 2007–2010 National Health and Nutrition Examination Survey (NHANES). Prevalence of ID, anemia, and IDA among children 1–5 years was 7.1% (5.5, 8.7), 3.2% (2.0, 4.3), and 1.1% (0.6, 1.7), respectively. The prevalence of both ID and anemia were higher among children 1–2 years (p < 0.05). In addition, 50% of anemic children 1–2 years were iron deficient. This analysis provides an update on the prevalence of ID, anemia, and IDA for a representative sample of US children. Our results suggest little change in these indicators over the past decade. Monitoring of ID and anemia is critical and prevention of ID in early childhood should remain a public health priority. PMID:27249004

  2. Soy protein formulas in children: no hormonal effects in long-term feeding.

    PubMed

    Giampietro, Paolo Gianni; Bruno, Giovanna; Furcolo, Giuseppe; Casati, Alessandra; Brunetti, Ercole; Spadoni, Gian Luigi; Galli, Elena

    2004-02-01

    Recently, the finding of high plasma concentration of phyto-oestrogens in soy protein formula (SPF) fed children has focused scientific attention on the phyto-oestrogens (isoflavones genistein, daidzein, and their glycosides) contained in SPFs. The aim of this study was to evaluate some hormonal and metabolic effects of long-term (more than 6 months) SPF feeding. We enrolled 48 children, mean age 37 months (range 7-96 months), 27 males and 21 females. All children underwent physical examination. Bone age, urinary markers of bone metabolism, serum levels of bone alkaline phosphatase, osteocalcin, 17beta-oestradiol, and intact parathyroid hormone were measured. Eighteen healthy children represented the control group. No abnormalities were observed in auxological parameters; none of the enrolled girls showed signs/symptoms of precocious puberty and none of the boys presented gynecomastia; bone age was within the normal range. The serum level of bone alkaline phosphatase, osteocalcin, 17beta-oestradiol, and intact parathyroid hormone, and the urinary levels of the markers of bone metabolism were all within normal values. We conclude that long-term feeding with SPFs in early life does not seem to produce oestrogen-like hormonal effects. PMID:15055353

  3. Blood and hair lead in children with different extents of iron deficiency in Karachi

    SciTech Connect

    Ataur Rahman, Muhammad; Rahman, Bushra; Saeed Ahmad, Muhammad; Blann, Andrew; Ahmed, Nessar

    2012-10-15

    Childhood iron deficiency has a high incidence in Pakistan. Some but not all studies have shown that dietary iron deficiency may cause increased absorption of lead as both compete for the same transporters in the small intestine. Therefore, children in Pakistan, residing in heavily polluted cities like Karachi may be prone to lead poisoning. This hypothesis was tested by investigating blood and hair lead concentrations in children from Karachi who were divided into four groups of iron status; normal, borderline iron deficiency, iron deficiency and iron deficiency anaemia. A prospective observational study was conducted where 269 children were categorized into four groups of iron status using the World Health Organization criteria and one based on soluble transferrin receptor measurements. Blood iron status was determined using a full blood count, serum iron, ferritin, transferrin saturation and soluble transferrin receptor measurements. Blood lead was determined by graphite atomic absorption spectroscopy, whereas hair lead was assessed using an inductively coupled plasma atomic emission spectroscopy technique. Blood lead concentrations were significantly higher in children with iron deficiency anaemia (mean [95% confidence intervals] were 24.9 [22.6-27.2] {mu}g/dL) compared to those with normal iron status (19.1 [16.8-21.4] {mu}g/dL) using WHO criteria. In contrast, hair lead content was not significantly different in children of different iron status. Our findings reinforce the importance of not only reducing environmental lead pollution but also the development of national health strategies to reduce childhood iron deficiency in Pakistan.

  4. Exposure to polychlorinated biphenyls and levels of thyroid hormones in children.

    PubMed Central

    Osius, N; Karmaus, W; Kruse, H; Witten, J

    1999-01-01

    As part of an epidemiologic study on exposure to a toxic waste incineration plant we investigated whether blood concentrations of polychlorinated biphenyls (PCBs), lead, and cadmium, as well as concentration of mercury in 24-hr urine samples were associated with thyroid hormone status. As an indication of status, we determined levels of thyroid-stimulating hormone (TSH), free thyroxine (FT(4)), and free triiodothyronine (FT(3)) in children living in households where [less than/equal to] 10 cigarettes were smoked per day. Eight PCB congeners (PCBs 101, 118, 138, 153, 170, 180, 183, and 187) were measured in whole blood samples. Of these, seven congeners (PCB 101 was not detected in any sample) and the sum of all PCB congeners were analyzed as predictors for thyroid hormone status in separate linear regression models adjusted for potential confounders. In addition, the possible effects of cadmium, lead, and mercury on levels of thyroid hormones were examined. Blood concentrations and information on questionnaire data were available for 320 children 7-10 years of age. We found a statistically significant positive association between the mono-ortho congener PCB 118 and TSH as well as statistically significant negative relationships of PCBs 138, 153, 180, 183, and 187 to FT(3). There was no association for the PCB congeners and FT(4). Blood cadmium concentration was associated with increasing TSH and diminishing FT(4). Blood lead and urine concentration of mercury were of no importance to thyroid hormone levels. The results stress the need for future studies on the possible influences of PCB and cadmium exposure on thyroid hormones, particularly in children. These studies should also take neurologic development into account. PMID:10504153

  5. Exclusion of growth hormone (GH)-releasing hormone gene mutations in familial isolated GH deficiency by linkage and single strand conformation analysis

    SciTech Connect

    Perez Jurado, L.A.; Francke, U.; Phillips, J.A. III

    1994-03-01

    The molecular basis and the locus responsible for most familial cases of isolated GH deficiency (IGHD) are still unknown. The GH-releasing hormone (GHRH) gene has been evaluated as a possible candidate in 23 unrelated families with IGHD, 14 of whom were classified as having autosomal recessive IGHD type IB and 9 of whom had autosomal dominant IGHD type II. Three highly polymorphic microsatellites (dinucleotide repeats), mapped close to GHRH on chromosome 20 by previous linkage studies, were analyzed as markers for the GHRH locus. All available family members were genotyped for D20S44 [no recombination with GHRH at a LOD (logarithm of the odds) score of 3.6]. Noninformative families were also genotyped for D20S45 and/or D20S54 (located at {approximately} 1 and 3 centiMorgan of genetic distance from GHRH, respectively). Twenty families were informative for linkage analysis with 1 or more of these markers. They found at least 1 obligate recombinant with discordance between phenotype and genotype in 19 of the 23 families (83%). There is only a very small chance (1-3% or less) that the discordances observed are due to recombination between the GHRH locus and the marker tested. Concordant segregation was seen in only 1 type IB family (4%). When probands from this and the 3 noninformative families were screened for sequence variants in the 5 exons of the GHRH gene by single strand conformation analysis, no abnormal patterns were observed. They conclude that mutations responsible for IGHD are not within or near the structural gene for GHRH on chromosome 20 in the 23 families studied. As linkage to the GH-1 gene has also been previously excluded in 65% of these families, mutations in a locus or loci unlinked to GH-1 and GHRH must be responsible for the majority of these IGHD families. 31 refs., 4 figs., 1 tab.

  6. Role of Gonadotropin-releasing Hormone Stimulation Test in Diagnosing Gonadotropin Deficiency in Both Males and Females with Delayed Puberty

    PubMed Central

    Sun, Qi-Hong; Zheng, Yu; Zhang, Xiao-Lin; Mu, Yi-Ming

    2015-01-01

    Background: Delayed puberty can result either from constitutional delay of growth and puberty (CDP) or idiopathic hypogonadotropic hypogonadism (IHH). Gonadotropin-releasing hormone (GnRH) stimulation test has been generally accepted as a current method for diagnosing delayed puberty. The objective of this research was to assess the cut-off values and the efficacy of GnRH stimulation test in the diagnosis of delayed puberty in both males and females. Methods: A study of 91 IHH, 27 CDP patients, 6 prepubertal children, and 20 pubertal adults was undertaken. Blood samples were obtained at 0, 30, 60, and 120 min after GnRH administration and the levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) were measured. For each parameter, the sensitivities and specificities were estimated, and the receiver operating characteristic (ROC) curves were constructed. Results: The ROC curves indicated that a serum basal LH <0.6 IU/L or peak LH <9.74 IU/L resulted in moderate sensitivity (73.8% or 80.0%) and specificity (90.9% or 86.4%) in the diagnosis of HH in males. Serum basal LH <0.85 IU/L or basal FSH <2.43 IU/L resulted in moderate sensitivity (80.0% or 100.0%) and specificity (75.0% or 50.0%) in the diagnosis of HH in females. Conclusions: Our data suggest that isolated use of the gonadorelin stimulation test is almost sufficient to discriminate between HH and CDP in males, but unnecessary in females. The most useful predictor is serum basal or peak LH to differentiate these two disorders in males, but serum basal LH or FSH in females. PMID:26365959

  7. Micronutrient Deficiencies and Plasmodium vivax Malaria among Children in the Brazilian Amazon

    PubMed Central

    Benzecry, Silvana Gomes; Alexandre, Márcia Almeida; Vítor-Silva, Sheila; Salinas, Jorge Luis; de Melo, Gisely Cardoso; Marinho, Helyde Albuquerque; Paes, Ângela Tavares; de Siqueira, André Machado; Monteiro, Wuelton Marcelo; Lacerda, Marcus Vinícius Guimarães; Leite, Heitor Pons

    2016-01-01

    Background There is a growing body of evidence linking micronutrient deficiencies and malaria incidence arising mostly from P. falciparum endemic areas. We assessed the impact of micronutrient deficiencies on malaria incidence and vice versa in the Brazilian state of Amazonas. Methodology/Principal Findings We evaluated children <10 years old living in rural communities in the state of Amazonas, Brazil, from May 2010 to May 2011. All children were assessed for sociodemographic, anthropometric and laboratory parameters, including vitamin A, beta-carotene, zinc and iron serum levels at the beginning of the study (May 2010) and one year later (May 2011). Children were followed in between using passive surveillance for detection of symptomatic malaria. Those living in the study area at the completion of the observation period were reassessed for micronutrient levels. Univariate Cox-proportional Hazards models were used to assess whether micronutrient deficiencies had an impact on time to first P. vivax malaria episode. We included 95 children median age 4.8 years (interquartile range [IQR]: 2.3–6.6), mostly males (60.0%) and with high maternal illiteracy (72.6%). Vitamin A deficiencies were found in 36% of children, beta-carotene deficiency in 63%, zinc deficiency in 61% and iron deficiency in 51%. Most children (80%) had at least one intestinal parasite. During follow-up, 16 cases of vivax malaria were diagnosed amongst 13 individuals. Micronutrient deficiencies were not associated with increased malaria incidence: vitamin A deficiency [Hazard ratio (HR): 1.51; P-value: 0.45]; beta-carotene [HR: 0.47; P-value: 0.19]; zinc [HR: 1.41; P-value: 0.57] and iron [HR: 2.31; P-value: 0.16]). Upon reevaluation, children with al least one episode of malaria did not present significant changes in micronutrient levels. Conclusion Micronutrient serum levels were not associated with a higher malaria incidence nor the malaria episode influenced micronutrient levels. Future studies

  8. Growth hormone therapy in children with CKD after more than two decades of practice.

    PubMed

    Rees, Lesley

    2016-09-01

    This review focuses on the evidence for the efficacy and safety of recombinant human growth hormone (rhGH) therapy in children with all stages of chronic kidney disease (CKD) and at all ages. It describes the improving height prognosis for our patients both with and without rhGH; explains the underlying hormonal abnormalities that provide the rationale for rhGH use in CKD and the endocrine changes that accompany treatment; and views on who warrants treatment, with what dose, and how long for. PMID:26369925

  9. Dysgraphia in Children: Lasting Psychomotor Deficiency or Transient Developmental Delay?

    ERIC Educational Resources Information Center

    Smits-Engelsman, Bouwien C. M.; Van Galen, Gerard P.

    1997-01-01

    Used writing tasks recorded on a computer-monitored XY tablet to differentiate between normal variations in psychomotor development and dysgraphia in 16 young children. Found that control of spatial accuracy, not allograph retrieval or size control, discriminated dysgraphic children from others. Poor writers were less accurate than proficient…

  10. Testosterone Replacement Therapy Prevents Alterations of Coronary Vascular Reactivity Caused by Hormone Deficiency Induced by Castration

    PubMed Central

    Rouver, Wender Nascimento; Delgado, Nathalie Tristão Banhos; Menezes, Jussara Bezerra; Santos, Roger Lyrio; Moyses, Margareth Ribeiro

    2015-01-01

    The present study aimed to determine the effects of chronic treatment with different doses of testosterone on endothelium–dependent coronary vascular reactivity in male rats. Adult male rats were divided into four experimental groups: control (SHAM), castrated (CAST), castrated and immediately treated subcutaneously with a physiological dose (0.5 mg/kg/day, PHYSIO group) or supraphysiological dose (2.5 mg/kg/day, SUPRA group) of testosterone for 15 days. Systolic blood pressure (SBP) was assessed at the end of treatment through tail plethysmography. After euthanasia, the heart was removed and coronary vascular reactivity was assessed using the Langendorff retrograde perfusion technique. A dose–response curve for bradykinin (BK) was constructed, followed by inhibition with 100 μM L-NAME, 2.8 μM indomethacin (INDO), L-NAME + INDO, or L-NAME + INDO + 0.75 μM clotrimazole (CLOT). We observed significant endothelium–dependent, BK–induced coronary vasodilation, which was abolished in the castrated group and restored in the PHYSIO and SUPRA groups. Furthermore, castration modulated the lipid and hormonal profiles and decreased body weight, and testosterone therapy restored all of these parameters. Our results revealed an increase in SBP in the SUPRA group. In addition, our data led us to conclude that physiological concentrations of testosterone may play a beneficial role in the cardiovascular system by maintaining an environment that is favourable for the activity of an endothelium–dependent vasodilator without increasing SBP. PMID:26322637

  11. Testosterone Replacement Therapy Prevents Alterations of Coronary Vascular Reactivity Caused by Hormone Deficiency Induced by Castration.

    PubMed

    Rouver, Wender Nascimento; Delgado, Nathalie Tristão Banhos; Menezes, Jussara Bezerra; Santos, Roger Lyrio; Moyses, Margareth Ribeiro

    2015-01-01

    The present study aimed to determine the effects of chronic treatment with different doses of testosterone on endothelium-dependent coronary vascular reactivity in male rats. Adult male rats were divided into four experimental groups: control (SHAM), castrated (CAST), castrated and immediately treated subcutaneously with a physiological dose (0.5 mg/kg/day, PHYSIO group) or supraphysiological dose (2.5 mg/kg/day, SUPRA group) of testosterone for 15 days. Systolic blood pressure (SBP) was assessed at the end of treatment through tail plethysmography. After euthanasia, the heart was removed and coronary vascular reactivity was assessed using the Langendorff retrograde perfusion technique. A dose-response curve for bradykinin (BK) was constructed, followed by inhibition with 100 μM L-NAME, 2.8 μM indomethacin (INDO), L-NAME + INDO, or L-NAME + INDO + 0.75 μM clotrimazole (CLOT). We observed significant endothelium-dependent, BK-induced coronary vasodilation, which was abolished in the castrated group and restored in the PHYSIO and SUPRA groups. Furthermore, castration modulated the lipid and hormonal profiles and decreased body weight, and testosterone therapy restored all of these parameters. Our results revealed an increase in SBP in the SUPRA group. In addition, our data led us to conclude that physiological concentrations of testosterone may play a beneficial role in the cardiovascular system by maintaining an environment that is favourable for the activity of an endothelium-dependent vasodilator without increasing SBP. PMID:26322637

  12. Fibroblast Growth Factor Receptor 3 Deficiency Does Not Impair the Osteoanabolic Action of Parathyroid Hormone on Mice

    PubMed Central

    Xie, Yangli; Yi, Lingxian; Weng, Tujun; Huang, Junlan; Luo, Fengtao; Jiang, Wanling; Xian, Cory J; Du, Xiaolan; Chen, Lin

    2016-01-01

    Summary: PTH stimulates bone formation in Fgfr3 knockout mice through promotion of proliferation and differentiation in osteoblasts. Introduction: Previous studies showed that endogenous fibroblast growth factor 2 (FGF-2) is required for parathyroid hormone (PTH)-stimulated bone anabolic effects, however, the exact mechanisms by which PTH stimulate bone formation and the function of FGF receptors in mediating these actions are not fully defined. FGF receptor 3 (FGFR3) has been characterized as an important regulator of bone metabolism and is confirmed to cross-talk with PTH/PTHrP signal in cartilage and bone development. Methods: Fgfr3 knockout and wild-type mice at 2-month-old and 4-month-old were intraperitoneally injected with PTH intermittently for 4 weeks and then the skeletal responses to PTH were assessed by dual energy X-ray absorptiometry (DEXA), micro-computed tomography (μCT) and bone histomorphometry. Results: Intermittent PTH treatment improved bone mineral density (BMD) and femoral mechanical properties in both Fgfr3-/- and wild-type mice. Histomorphometric analysis showed that bone formation and bone resorption were increased in both genotypes following PTH treatment. PTH treatment increased trabecular bone volume (BV/TV) in WT and Fgfr3-deficient mice. The anabolic response in Fgfr3-deficient and wild-type bone is characterized by an increase of both bone formation and resorption-related genes following PTH treatment. In addition, we found that Fgfr3 null osteoblasts (compared to wild-type controls) maintained normal abilities to response to PTH-stimulated increase of proliferation, differentiation, expression of osteoblastic marker genes (Cbfa1, Osteopontin and Osteocalcin), and phosphorylation of Erk1/2. Conclusions: Bone anabolic effects of PTH were not impaired by the absence of FGFR3, suggesting that the FGFR3 signaling may not be required for osteoanabolic effects of PTH activities. PMID:27489502

  13. Health consequences of iodine deficiency.

    PubMed

    Kapil, Umesh

    2007-12-01

    Iodine Deficiency Disorders (IDD) are one of the biggest worldwide public health problem of today. Their effect is hidden and profoundly affects the quality of human life. Iodine deficiency occurs when the soil is poor in iodine, causing a low concentration in food products and insufficient iodine intake in the population. When iodine requirements are not met, the thyroid may no longer be able to synthesize sufficient amounts of thyroid hormone. The resulting low-level of thyroid hormones in the blood is the principal factor responsible for the series of functional and developmental abnormalities, collectively referred to as IDD. Iodine deficiency is a significant cause of mental developmental problems in children, including implications on reproductive functions and lowering of IQ levels in school-aged children. The consequence of iodine deficiency during pregnancy is impaired synthesis of thyroid hormones by the mother and the foetus. An insufficient supply of thyroid hormones to the developing brain may result in mental retardation. Brain damage and irreversible mental retardation are the most important disorders induced by iodine deficiency. Daily consumption of salt fortified with iodine is a proven effective strategy for prevention of IDD. PMID:21748117

  14. [Assessment of the level of urinary iodine deficiency in children of Senegalese central regions].

    PubMed

    Sall, N D; Sall, M G; Sarr, N G; Gaye, O; Diatta, A; Diallo, F; Mbaye, A M; Ndiaye, B; Toure, M

    2000-01-01

    Iodine deficiency disorders (IDD) are a major public health problem in Senegal, where strategies of salt iodization were adopted in the southern and eastern regions. The aim of this study led in four districts (Koungheul, Bambey, Mekhe and Kebemer), was to estimate by a questionnaire, the women knowleges, attitudes and practices (KAP) concerning IDD, and to measure children urinary iodine excretion by the Sandell-Kolthoff method to assess a potential deficiency. Six hundred ninety eight households were selected covering 1336 women (age 15 to 49 years) and 400 children (age 6 to 12 years). Sixty three per cent of the women knew the goiter, 89% of them considered that it was a disease and only 0.6% knew the role of iodized salt in the treatment. On the other hand, 20% of the children presented a normal range of urinary iodine excretion superior to 100 microg/l, the deficiency was light (50 to 100 microg/l) in 38% of the children, moderate (25 to 50 microg/l) in 27% and severe (< 25 microg/l) in 15% of them. These results show that other Senegalese regions are concerned by iodine deficiency disorders and need information, education and iodine supplementation programmes, notably for children and young women. PMID:15779170

  15. The Incidence of and Factors Associated with Vitamin D Deficiency in Newly Diagnosed Children with Cancer.

    PubMed

    Genc, Dildar Bahar; Vural, Sema; Yagar, Gulperi

    2016-07-01

    This retrospective chart review study aimed to assess vitamin D status and identify risk factors associated with vitamin D deficiency and bone parameters in children with cancer at admission. The data of 86 (50 males and 36 females) patients between April 2013 and June 2015 were analyzed. Calcium, phosphorus, alkaline phosphatase (ALP), 25(OH)D, age, gender, diagnostic category, body mass index, duration of complaints, and season of blood sampling were recorded. Median age was 7.17 years (range 0.31-17.40) in 29 hematological malignancy and 57 solid tumor patients. According to cut-off level of 20 ng/ml, 63% of children with cancer had vitamin D deficiency at diagnosis with a median 25(OH)D of 16.75 ng/ml. The mean vitamin D value of children >10 years was significantly low in comparison to that observed in younger children [11.83, 95% confidence interval (CI) = = 8.85-14.81 ng/ml vs. 19.81, 95% CI = = 17.02-22.60 ng/ml]. Vitamin D measurement between November and May was a risk factor for vitamin D deficiency (P < 0.05). The frequency of hypocalcemia and hypophosphatemia was not different between two groups of vitamin D. Further longitudinal studies are needed to investigate whether monitoring vitamin D status and supplementation in children with cancer might prevent future complications related to vitamin D deficiency. PMID:27270075

  16. Glucose-6-phosphate dehydrogenase deficiency among children attending the Emergency Paediatric Unit of Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria

    PubMed Central

    Isaac, IZ; Mainasara, AS; Erhabor, Osaro; Omojuyigbe, ST; Dallatu, MK; Bilbis, LS; Adias, TC

    2013-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common human enzyme deficiencies in the world. It is particularly common in populations living in malaria-endemic areas, affecting more than 400 million people worldwide. This present study was conducted with the aim of determining the prevalence of G6PD deficiency among children visiting the Emergency Paediatric Unit of Usmanu Danfodiyo University Teaching Hospital for pediatric-related care. The study included 118 children, made up of 77 (65.3%) males and 41 (34.7%) females aged ≤5 years with mean age of 3.26 ± 1.90 years. Randox G6PD quantitative in vitro test screening was used for the diagnosis of G6PD deficiency. Of the 118 children tested, 17 (14.4%) were G6PD-deficient. Prevalence of G6PD deficiency was concentrated predominantly among male children (22.1%). Male sex was significantly correlated with G6PD deficiency among the children studied (r = 7.85, P = 0.01). The highest prevalence occurred among children in the 2- to 5-year age-group. Of the 17 G6PD-deficient children, twelve (70.2%) were moderately deficient, while five (29.4%) were severely deficient. Blood film from G6PD-deficient children indicated the following morphological changes; Heinz bodies, schistocytes, target cells, nucleated red cells, spherocytes, and polychromasia. This present study has shown a high prevalence of G6PD deficiency among children residing in Sokoto in the northwestern geopolitical zone of Nigeria. The study indicated a male sex bias in the prevalence of G6PD deficiency among the children studied. There is a need for the routine screening of children for G6PD deficiency in our environment, to allow for evidence-based management of these children and to ensure the avoidance of food, drugs, and infective agents that can potentially predispose these children to oxidative stress as well as diseases that deplete micronutrients that protect against oxidative stress. There is need to build capacity in our

  17. Extent of vitamin A deficiency among preschool children and women of reproductive age.

    PubMed

    West, Keith P

    2002-09-01

    Knowledge of the extent of vitamin A (VA) deficiency (D) is critical for identifying high-risk populations and mobilizing resources for prevention. Yet, all estimates are necessarily imperfect, often based on assumptions in the absence of data. In 1995, the World Health Organization estimated 254 million children to be VA-deficient and 2.8 million to have xerophthalmia. Subsequently, estimates were changed to 75-140 million and 3.3 million, respectively. Although both sets are consistent with a problem of enormous magnitude, the discrepancies also created uncertainty. The present analysis indicates there are approximately 127 million and 4.4 million preschool children with VAD (serum retinol < 0.70 micro mol/L or displaying abnormal impression cytology) and xerophthalmia, respectively. More than 7.2 million pregnant women in the developing world are VA-deficient (serum or breast-milk vitamin A concentrations < 0.70 micro mol/L), and another 13.5 million have low VA status (0.70-1.05 micro mol/L); >6 million women develop night blindness (XN) during pregnancy annually. Roughly 45% of VA-deficient and xerophthalmic children and pregnant women with low-to-deficient VA status live in South and Southeast Asia. These regions harbor >60% of all cases of maternal XN, three fourths of whom seem to live in India. Africa accounts for 25-35% of the global cases of child and maternal VAD; about 10% of all deficient persons live in the eastern Mediterranean region, 5-15% live in the Western Pacific and approximately 5% live in the Region of the Americas. VA prophylaxis seems to be preventing the number of deficient preschool children from increasing while probably reducing rates of blindness and mortality. Greater effort is needed to assess and prevent VAD and its disorders, particularly among pregnant and lactating women. PMID:12221262

  18. Serum galactose-deficient IgA1 levels in children with IgA nephropathy.

    PubMed

    Jiang, Mengjie; Jiang, Xiaoyun; Rong, Liping; Xu, Yuanyuan; Chen, Lizhi; Qiu, Zeting; Mo, Ying

    2015-01-01

    Immunoglobulin A nephropathy (IgAN) is an immunopathologic diagnosis based on a renal biopsy, it is characterized by deposits of IgA-containing immune complexes in the mesangium. Adults with IgAN have a galactose-deficient IgA1 in the circulation and glomerular deposition. There are few studies on the glycosylation of serum IgA1 in children with IgAN. To measure the serum levels of galactose-deficient IgA1 in pediatric patients with IgAN, 72 biopsy-proven IgAN children were divided into 3 groups based on the clinical features: isolated hematuria group (24 patients), hematuria and proteinuria group (22 patients), and nephritic syndrome group (26 patients). They were also divided into 3 groups according to pathologic grading: grade I + II group (25 patients), grade III group (33 patients) and grade IV + V group (14 patients). 30 healthy children were recruited as a control group. We used vicia villosa lectin binding enzyme-linked immunosorbent assay to measure the serum levels of galactose-deficient IgA1 in all groups and controls. Serum levels of galactose-deficient IgA1 in children with IgAN were higher than controls (P < 0.01). There were no significant differences in serum levels of galactose-deficient IgA1 among the different clinical and pathologic grading groups. The values of the area under the curve for galactose-deficient IgA1 levels were 0.976 (95% CI, 0.953-1.000). The cutoff point for galactose-deficient IgA1 levels was 0.125, with a sensitivity of 87.5% and a specificity of 83.3%, with a positive predictive value of 92.6% and a negative predictive value of 73.5% (P < 0.01). Children with IgAN presented serum galactose-deficient IgA1, which has shown no relationship with the clinical manifestations and pathologic grading of the disease. Detection of serum galactose-deficient IgA1 levels by vicia villosa lectin binding enzyme-linked immunosorbent assay has a certain clinical value in diagnosis of children with IgAN. PMID:26221341

  19. Serum galactose-deficient IgA1 levels in children with IgA nephropathy

    PubMed Central

    Jiang, Mengjie; Jiang, Xiaoyun; Rong, Liping; Xu, Yuanyuan; Chen, Lizhi; Qiu, Zeting; Mo, Ying

    2015-01-01

    Immunoglobulin A nephropathy (IgAN) is an immunopathologic diagnosis based on a renal biopsy, it is characterized by deposits of IgA-containing immune complexes in the mesangium. Adults with IgAN have a galactose-deficient IgA1 in the circulation and glomerular deposition. There are few studies on the glycosylation of serum IgA1 in children with IgAN. To measure the serum levels of galactose-deficient IgA1 in pediatric patients with IgAN, 72 biopsy-proven IgAN children were divided into 3 groups based on the clinical features: isolated hematuria group (24 patients), hematuria and proteinuria group (22 patients), and nephritic syndrome group (26 patients). They were also divided into 3 groups according to pathologic grading: grade I + II group (25 patients), grade III group (33 patients) and grade IV + V group (14 patients). 30 healthy children were recruited as a control group. We used vicia villosa lectin binding enzyme-linked immunosorbent assay to measure the serum levels of galactose-deficient IgA1 in all groups and controls. Serum levels of galactose-deficient IgA1 in children with IgAN were higher than controls (P < 0.01). There were no significant differences in serum levels of galactose-deficient IgA1 among the different clinical and pathologic grading groups. The values of the area under the curve for galactose-deficient IgA1 levels were 0.976 (95% CI, 0.953-1.000). The cutoff point for galactose-deficient IgA1 levels was 0.125, with a sensitivity of 87.5% and a specificity of 83.3%, with a positive predictive value of 92.6% and a negative predictive value of 73.5% (P < 0.01). Children with IgAN presented serum galactose-deficient IgA1, which has shown no relationship with the clinical manifestations and pathologic grading of the disease. Detection of serum galactose-deficient IgA1 levels by vicia villosa lectin binding enzyme-linked immunosorbent assay has a certain clinical value in diagnosis of children with IgAN. PMID:26221341

  20. Growth hormone deficiency and antipituitary antibodies in a patient with common variable immunodeficiency.

    PubMed

    Delvecchio, M; De Bellis, A; De Mattia, D; Cavallo, L; Martire, B

    2009-09-01

    Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia and T-lymphocytes dysfunction. Autoimmune diseases are frequent. A 10.7-yr-old female, diagnosed with CVID when 7 yr old, was referred because of short stature. She was pre-pubertal and short (height -2.86 SD score) with delayed bone age. Her intestinal absorption, routine biochemistry, heart, renal, liver, and thyroid functions were normal. Two stimulation tests for GH showed a maximum peak of 1.9 ng/ml (IGF-1: 154 ng/ml, 147-832). When the patient was 13 yr old (height -4.23 SD score, telarche and pubarche stage 2, bone age 6.25 yr), GH treatment was initiated. Despite poor compliance, the growth velocity showed improvement. Anti-thyrogobulin, anti-thyroperoxidase, anti-21-hydroxylase, and anti-tyrosine-phosphate antibodies were negative while anti- pituitary antibodies (APA) were positive. For the first time, the presence of APA (previously associated with GH deficiency in non-CVID subjects) is reported in a CVID patient. The possibility of an autoimmune involvement of the pituitary gland was previously debated for CVID patients, but had never been demonstrated. This case suggests that in CVID, the pituitary gland can be targeted by autoantibodies and thus a more comprehensive follow-up of these patients should be performed. PMID:19509479

  1. Diamond-Blackfan anemia and nutritional deficiency-induced anemia in children.

    PubMed

    Gelbart, David

    2014-04-01

    Diamond-Blackfan anemia is a rare, inherited disease that characteristically presents as a chronic, normochromic macrocytosis due to red cell lineage bone marrow failure. Although studies are elaborating on the genetic basis for its associated comorbidities, little has been published comparing this anemia to other chronic anemias that have similar laboratory results in children. This article offers a global perspective of the disease and compares it with anemia due to vitamin B12 and folate deficiency in children. PMID:24662257

  2. Correlation between serum leptin level and thyroid hormones in children with major beta-thalassemia 

    PubMed Central

    Shahramian, I; Noori, NM; Ramezani, AA; Sharafi, E; Akhlaghi, E

    2013-01-01

    Background Beta-thalassemia is the most common hematology disease in human and leptin is one of the hormone that produce by adiposities cells. The purpose of this study was to investigate the relationship between serum leptin level and thyroid hormones in children with major beta-thalassemia. Materials and Methods This descriptive-cross sectional study was performed on 90 children aged 6-16 years old with beta-thalassemia. Body Mass Index (BMI ) were meuseurd in all patients and then, after collecting the samples, leptin and thyroid hormones levels of the serum were measured in the patients with thalassemia via ELISA method. Then, all data was analyzed by Pearson correlation test, and x2 statistical tests and P < 0.05 was considered as a significant difference. Results The mean of body mass index and serum leptin level in the patients group was 16.58±2.43 and 1.521 ±2. 49, respectively. The mean serum levels of thyroxin (T4), triiodothyronine (T3), and thyroid- stimulating hormone (TSH) in patient's groups were7.94 ±3.56, 1.28 ± 0.46, and 2.85 ±3. 44, respectively. There was significant correlation between serum leptin levels and T4 in patients with major thalassemia; also there was no significant correlation between serum leptin level and T3and TSH. There was a significant correlation was between the leptin serum level and BMI in patients (P value=0.008). Conclusion The results of this study demonstrated that in patients with major thalassemia, there was significant correlation between serum leptin level and thyroxin hormone. Leptin level has more relationship with thyroxin than thyroid- stimulating hormone. PMID:24575288

  3. Prevalence of Iron deficiency anemia in children with liver cirrhosis: A cross-sectional study

    PubMed Central

    Zareifar, Soheila; Dehghani, Seyed Mohsen; Rahanjam, Najmeh; Farahmand Far, Mohammad Reza

    2015-01-01

    Background: Among the many complications reported for cirrhosis, iron deficiency anemia (IDA) has attracted much attention. This type of anemia, in contrast to other types of anemia, is easy to treat prophylactically, but if left untreated can lead to a poor quality of life. The aim of this study was to estimate the hemoglobin and serum iron levels among patients with liver cirrhosis for the early diagnosis of IDA and to avoid unnecessary testing and iron supplementation. Subjects and Methods: In this cross-sectional study, 88 children diagnosed with cirrhosis were included, and the values of hemoglobin, serum iron levels and relationship between serum iron (SI), total iron-binding capacity (TIBC), prothrombine time (PT), international normalization ratio (INR), total and direct bilirubin and hepatic enzymes were estimated using paired t test, Mann-Whitney, Chi-square and Kruskal-Wallis tests. Results: Forty-six (52.3%) of 88 children were girls and 42 (47.7%) were boys. Forty-eight (54.5%) patients had anemia and 8 (9%) had iron deficiency anemia (5 boys, 5.6%, and 3 girls, 3.4%). No relationships were observed between iron deficiency anemia and the patient’s age or gender, whereas there was a relationship between iron deficiency and severity and duration of the disease, although the correlation was not statistically significant. Conclusion: The high frequency of iron deficiency anemia in children with cirrhosis (9%) suggests that timely screening should be used for early diagnosis and treatment. PMID:26261697

  4. Malnutrition and micronutrient deficiencies among Bhutanese refugee children--Nepal, 2007.

    PubMed

    2008-04-11

    Acute and chronic malnutrition and micronutrient deficiencies have been found in refugee camp populations. In southeastern Nepal, despite consistent access by refugees to general rations, certain micronutrient deficiencies have posed a substantial health burden to the approximately 100,000 Bhutanese residing in seven refugee camps. Limited food diversity, frequent illness, and poor feeding practices have been cited as underlying causes of poor nutritional status in this population. Annual surveys to assess levels of acute malnutrition (i.e., wasting) and chronic malnutrition (i.e., stunting) have been conducted in these camps by the Association of Medical Doctors of Asia (AMDA) and United Nations High Commissioner for Refugees (UNHCR); however, the capacity to reliably evaluate micronutrient deficiencies has not existed locally in the camps. In January 2007, AMDA and CDC, at the request of UNHCR and the World Food Programme (WFP), conducted a nutritional survey of children aged 6-59 months, assessing 1) the prevalence of acute malnutrition, chronic malnutrition, underweight, anemia, and angular stomatitis (i.e., riboflavin deficiency); 2) the cumulative incidence of diarrhea and acute respiratory illness (ARI); and 3) the feeding practices of the children's mothers. This report describes the results of that survey, which indicated that, although acute malnutrition was found in only 4.2% of the children, chronic malnutrition was found in 26.9% and anemia in 43.3%. These findings underscore the importance of monitoring both malnutrition and micronutrient deficiencies and addressing the underlying causes of nutritional deficits. PMID:18401331

  5. Prevalence of vitamin A deficiency in children aged 6-9 years in Wukro, northern Ethiopia.

    PubMed Central

    Kassaye, T.; Receveur, O.; Johns, T.; Becklake, M. R.

    2001-01-01

    OBJECTIVE: To determine the prevalence of vitamin A deficiency in children aged 6-9 years in northern Ethiopia. METHODS: A cross-sectional study was carried out and the data were analysed for 824 (61.5%) of 1339 eligible children for whom there was complete information on biochemical vitamin A status, dietary vitamin A intake, ocular examination for xerophthalmia, and anthropometry. FINDINGS: The prevalence of xerophthalmia was 5.8%; serum retinol levels were below 0.35 mumol/l and between 0.35 and 0.70 mumol/l in 8.4% and 51.1% of the children respectively. The liver vitamin A reserve (modified relative dose response ratio > or = 0.06) was low in 41.0% of the children. CONCLUSION: The high prevalence of severe vitamin A deficiency in children aged 6-9 years indicates the need to reevaluate the practice of targeting vitamin A supplementation programmes on children under 6 years of age in areas where vitamin A deficiency is endemic. PMID:11417037

  6. Nutritional Deficiencies and Food Insecurity Among HIV-infected Children in Tanzania

    PubMed Central

    Modlin, Chelsea E.; Naburi, Helga; Hendricks, Kristy M.; Lyatuu, Goodluck; Kimaro, Josphine; Adams, Lisa V.; Palumbo, Paul E.; von Reyn, C. Fordham

    2014-01-01

    Background: Poor nutrition has been associated with impaired immunity and accelerated disease progression in HIV-infected children. The aim of this study was to quantify the levels of nutrient intake in HIV-infected children and compare these to standard recommendations. Methods: We surveyed HIV-infected Tanzanian children enrolled in a pediatric care program that provided routine nutritional counseling and vitamin supplementation. We obtained anthropometric measurements and determined 24-hour macronutrient and micronutrient intakes and food insecurity. Values were compared to recommended nutrient intakes based on age and gender. Results: We interviewed 48 pairs of children and their caregiver(s). The age of the child ranged from 2-14 years; median age 6 and 60% female. The median weight-for-height z-score for children ≤ 5 years was 0.69 and BMI-for-age z-scores for children >5 was -0.84. Macronutrient evaluation showed that 29 (60%) children were deficient in dietary intake of energy; deficiency was more common in older children (p=0.004). Micronutrient evaluation shows that over half of study subjects were deficient in dietary intake of vitamin A, vitamin D, vitamin E, thiamine, riboflavin, niacin, folate, vitamin B12, and calcium. Food insecurity was reported by 20 (58%) caregivers. Conclusions and Public Health Implications: The diets of many HIV-infected children at a specialized treatment center in Tanzania do not meet recommended levels of macro-and micro-nutrients. Food insecurity was a contributory factor. Enhanced dietary counseling and provision of macro- and micro-nutrient supplements will be necessary to achieve optimal nutrition for most HIV-infected children in resource-poor regions.

  7. Behavioral Effects of Org 2766, a Synthetic Analog of the Adrenocorticotrophic Hormone (4-9), in 14 Outpatient Autistic Children.

    ERIC Educational Resources Information Center

    Buitelaar, Jan K.; And Others

    1990-01-01

    Fourteen autistic children (ages 5-13) were administered Org 2766 (a synthetic analog of the adrenocorticotrophic hormone 4-9) or a placebo for 4 weeks. The hormone appeared to decrease stereotypic behavior and increase such behaviors as "change toys,""locomote," and "talk," though Aberrant Behavior Checklist ratings did not show significant…

  8. A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency - a clinical research center study

    SciTech Connect

    Cogan, J.D.; Prince, M.; Phillips, J.

    1995-12-01

    Familial isolated GH deficiency type II (IGHD-II) is an autosomal dominant disorder that has been previously shown in some patients to be caused by heterogeneous GH gene defects that affect GH messenger RNA (mRNA) splicing. We report here our findings of multiple G{r_arrow}A transitions of the first base of the donor splice site of IVS 3 (+1G{r_arrow}A) in IGHD II subjects from three nonrelated kindreds from Sweden, North America, and South Africa. This + 1G{r_arrow}A substitution creates an NlaIII site that was used to demonstrate that all affected individuals in all three families were heterozygous for the mutation. To determine the effect of this mutation of GH mRNA processing, HeLa cells were transfected with expression plasmids containing normal or mutant +1G{r_arrow}A alleles, and complementary DNAs from the resulting GH mRNAs were sequenced. The mutation was found to destroy the GH IVS3 donor splice site, causing skipping of exon 3 and loss of the codons for amino acids 32-71 of the mature GH peptide from the mutant GH mRNA. Our finding of exon 3 skipping in transcripts of the +1G{r_arrow}A mutant allele is identical to our previous report of a different sixth base transition (+6T{r_arrow}C) mutation of the IVS 3 donor splice site that also causes IGHD II. Microsatellite analysis of an affected subjects` DNA from each of the three nonrelated kindreds indicates that the +1G{r_arrow}A mutation arose independently in each family. Finding that neither grandparent has the mutation in the first family suggests that it arose de novo in that family. Our data indicate that (1) +1G{r_arrow}A IVS 3 mutations perturb GH mRNA splicing and cause IGHD II; and (2) these mutations can present as de novo GHD cases. 13 refs., 4 figs., 1 tab.

  9. Suitability of School Textbooks for 5 to 7 Year Old Children with Colour Vision Deficiencies

    ERIC Educational Resources Information Center

    Torrents, Aurora; Bofill, Francesc; Cardona, Genis

    2011-01-01

    Purpose: The aim of the present study was to determine, through colorimetric analysis, whether school textbooks for children aged 5 to 7 years contained tasks requiring normal colour vision discrimination for their resolution. In addition, the performance of a group of observers with diverse colour vision deficiencies was evaluated while…

  10. Is red meat required for the prevention of iron deficiency among children and adolescents?

    PubMed

    Savva, Savvas C; Kafatos, Anthony

    2014-01-01

    Iron deficiency remains the most common nutritional deficiency worldwide despite the fact that global prevention is a high priority. Recent guidelines suggest intake of red meat both in infants and toddlers to prevent iron deficiency. However frequent consumption of red and processed meat may be associated with an increased risk for cancer, cardiovascular disease and diabetes. Evidence also suggests that even in vegetarian diets or diets with little consumption of white or red meat, iron status may not be adversely affected. The Eastern Orthodox Christian Church dietary recommendations which is a type of periodic vegetarian diet, has proved beneficial for the prevention of iron deficiency and avoidance of excess iron intake. This paper aims to provide examples of meals for children and adolescents that may be sufficient to meet age specific iron requirements without consumption of red meat beyond the recommended consumption which is once or twice per month. PMID:25088337

  11. Effectiveness of zinc protoporphyrin/heme ratio for screening iron deficiency in preschool-aged children.

    PubMed

    Yu, Kyeong Hee

    2011-02-01

    Hemoglobin and zinc protoporphyrin (ZPP) tests are commonly used to screen for iron deficiency, but little research has been done to systematically evaluate the sensitivity and specificity of these two tests. The goal of this study was to evaluate the effectiveness of zinc protoporphyrin/heme (ZPP/H) ratio as a point-of-service screening test for iron deficiency among preschool-aged children by comparing the sensitivity and specificity of hemoglobin, ZPP/H ratio, and serum ferritin (SF). Also completed were assessments for the prevalence of anemia, iron deficiency (ID), and iron deficiency anemia (IDA) with indicators of ferritin models. This study was carried out with 95 children ages 3 to 6 y. Anthropometric measurements were assessed, and blood samples were analyzed for hemoglobin, SF, transferrin saturation (TS), and ZPP. Anemia was common and the prevalences of anemia, ID, and IDA were 14.7%, 12.6%, and 5.2%, respectively. The ZPP/H ratio was strongly and significantly correlated with hemoglobin. And ZPP/H ratio was a more sensitive test for ID than hemoglobin or SF measurement, correctly identifying more than twice as many iron-deficient children (sensitivity of 91.7%, compared to 41.7% for hemoglobin and SF). However, ZPP/H ratio had lower specificity (60.2%, compared to 89.1% for hemoglobin or 96.4% for SF) and resulted in the false identification of more subjects who actually were not iron deficient than did hemoglobin or SF. Low hemoglobin concentration is a late-stage indicator of ID, but ZPP/H ratio can detect ID at early stages and can be performed easily at a relatively low cost. Therefore, ZPP/H ratio can serve as a potential screening test for pre-anemic iron deficiency in community pediatric practices. PMID:21487495

  12. Multiple sulfatase deficiency: A case series of four children

    PubMed Central

    Incecik, Faruk; Ozbek, Mehmet N.; Gungor, Serdal; Pepe, Stefano; Herguner, Ozlem M.; Mungan, Neslihan Onenli; Gungor, Sabiha; Altunbasak, Sakir

    2013-01-01

    Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The gene sulfatase-modifying factor 1 (SUMF1), recently identified, encodes the enzyme responsible for post-translational modification of a cysteine residue, which is essential for the activity of sulfatases. We describe clinical findings and mutation analysis of four patients. The patients presented with hypotonia, developmental delay, coarse face, ichthyosis, and hepatosplenomegaly. The diagnosis was made through clinical findings, enzymatic assays, and mutation analysis. We were detected to be homozygous for a novel missense mutation c. 739G > C causing a p.G247R amino acid substitution in the SUMF1 protein. PMID:24339620

  13. Estrogen priming effect on growth hormone (GH) provocative test: a useful tool for the diagnosis of GH deficiency.

    PubMed

    Martínez, A S; Domené, H M; Ropelato, M G; Jasper, H G; Pennisi, P A; Escobar, M E; Heinrich, J J

    2000-11-01

    We have studied the effect of estradiol (E2) on the GH-insulin-like growth factor (GH-IGF) axis in 15 prepubertal GH deficiency (GHD) children and 44 prepubertal or early pubertal children with idiopathic short stature (SS). All of them received a daily dose of micronized E2 (1 or 2 mg) or placebo, for 3 days, before a sequential arginine-clonidine test. In SS children, GH maximal responses were 17.8+/-10.9 on placebo and 27.9+/-14.5 microg/L on estrogen (P < 0.0001). The lower 95% confidence limits for GH maximal response changed from 3.7 microg/L (without E2) to 8.3 microg/L (on E2). In GHD children, no significant stimulatory effect of estrogen on GH levels was observed. After placebo, a cut-off limit of 3.7 microg/L (the lower 95% confidence interval limit) resulted in 73% sensitivity, 95% specificity, and an overall 90% diagnostic efficiency. After E2, a cut-off limit of 8.3 microg/L resulted in a sensitivity of 87%, a specificity of 98%, and a diagnostic efficiency of 95%. After placebo, 68% of SS showed normal IGF-I levels, and the mean did not change on E2 (13.7+/-6.3 vs. 14.3+/-6.8 nmol/L, not significant). In 93% of SS, IGF binding protein (IGFBP)-3 levels were normal during placebo. On E2, mean IGFBP-3 did not change (2.63+/-0.70 vs. 2.70+/-0.70 mg/L, not significant). In 14 of 15 GHD patients, IGF-I values were below normal on placebo, and the mean of the group did not change after E2. During placebo, 13 of 15 GHD children presented low IGFBP-3 values. During E2, there was a small significant increase in IGFBP-3 values (1.06+/-0.58 vs. 1.20+/-0.69 mg/L, P < 0.02). The highest diagnostic efficiencies for IGF-I and IGFBP-3 were observed during placebo (75% and 91%, respectively). We conclude that GH stimulation tests after E2 priming had the highest diagnostic efficiency. Our findings suggest that the effect of estrogen priming on GH stimulated levels, by reducing the number of false nonresponders, might be useful to better discriminate between normal and

  14. Conjunctival impression cytology fails to detect subclinical vitamin A deficiency in young children.

    PubMed

    Rahman, M M; Mahalanabis, D; Wahed, M A; Islam, M; Habte, D; Khaled, M A; Alvarez, J O

    1995-07-01

    Thirty-four asymptomatic children, ages 5-35 mo, were studied to compare the conjunctival impression cytology technique with the relative dose response test in detection of subclinical vitamin A deficiency. Conjunctival smears were collected from the infero-temporal-bulbar conjunctiva of each eye with a strip of cellulose acetate filter paper and transferred onto a glass slide. Venous blood was drawn at 0 and 5 h after administration of an oral dose of 1000 micrograms of retinol palmitate (relative dose response test). An increase in serum retinol concentration (> or = 20%) in the 5-h value was considered indicative of an inadequate liver store of vitamin A and hence subclinical vitamin A deficiency. Of the 34 children, 26 (76.5%) had moderate to severe protein-energy malnutrition. Only three children (9%) had abnormal conjunctival impression cytology, whereas 23 (68%) had abnormal relative dose response. Even more striking was the finding that only two of the 23 children with abnormal relative dose response had abnormal conjunctival impression cytology. The results suggest that the conjunctival impression cytology test has poor agreement with the relative dose response test results in assessing vitamin A status in young children. If relative dose response is considered an acceptable reference method for assessing vitamin A status, then the conjunctival impression cytology test cannot be considered a valid measure of subclinical vitamin A deficiency in this population. PMID:7616303

  15. Deficient Brainstem Encoding of Pitch in Children with Autism Spectrum Disorders

    PubMed Central

    Russo, N. M.; Skoe, E.; Trommer, B.; Nicol, T.; Zecker, S.; Bradlow, A.; Kraus, N.

    2008-01-01

    Objective Deficient prosody is a hallmark of the pragmatic (socially contextualized) language impairment in Autism Spectrum Disorders (ASD). Prosody communicates emotion and intention and is conveyed through acoustic cues such as pitch contour. Thus, the objective of this study was to examine the subcortical representations of prosodic speech in children with ASD. Methods Using passively-evoked brainstem responses to speech syllables with descending and ascending pitch contours, we examined sensory encoding of pitch in children with ASD who had normal intelligence and hearing and were age-matched with typically-developing (TD) control children. Results We found that some children on the autism spectrum show deficient pitch tracking (evidenced by increased frequency and slope errors and reduced phase locking) compared with TD children. Conclusions This is the first demonstration of subcortical involvement in prosody encoding deficits in this population of children. Significance Our findings may have implications for diagnostic and remediation strategies in a subset of children with ASD and open up an avenue for future investigations. PMID:18558508

  16. Iron Deficiency and Other Types of Anemia in Infants and Children.

    PubMed

    Wang, Mary

    2016-02-15

    Anemia, defined as a hemoglobin level two standard deviations below the mean for age, is prevalent in infants and children worldwide. The evaluation of a child with anemia should begin with a thorough history and risk assessment. Characterizing the anemia as microcytic, normocytic, or macrocytic based on the mean corpuscular volume will aid in the workup and management. Microcytic anemia due to iron deficiency is the most common type of anemia in children. The American Academy of Pediatrics and the World Health Organization recommend routine screening for anemia at 12 months of age; the U.S. Preventive Services Task Force found insufficient evidence to assess the benefits vs. harms of screening. Iron deficiency anemia, which can be associated with cognitive issues, is prevented and treated with iron supplements or increased intake of dietary iron. The U.S. Preventive Services Task Force found insufficient evidence to recommend screening or treating pregnant women for iron deficiency anemia to improve maternal or neonatal outcomes. Delayed cord clamping can improve iron status in infancy, especially for at-risk populations, such as those who are preterm or small for gestational age. Normocytic anemia may be caused by congenital membranopathies, hemoglobinopathies, enzymopathies, metabolic defects, and immune-mediated destruction. An initial reticulocyte count is needed to determine bone marrow function. Macrocytic anemia, which is uncommon in children, warrants subsequent evaluation for vitamin B12 and folate deficiencies, hypothyroidism, hepatic disease, and bone marrow disorders. PMID:26926814

  17. Constitutional delay influences the auxological response to growth hormone treatment in children with short stature and growth hormone sufficiency.

    PubMed

    Gunn, Katherine C; Cutfield, Wayne S; Hofman, Paul L; Jefferies, Craig A; Albert, Benjamin B; Gunn, Alistair J

    2014-01-01

    In a retrospective, population based cohort study, we examined whether constitutional delay was associated with the growth response to growth hormone (GH) in children with short stature and normal GH responses. 70 patients were treated with 21 GH iu/m2/week from 1975 to 2013 throughout New Zealand. Demographic and auxological data were prospectively collected and standard deviation scores (SDS) were calculated for height (HtSDS), yearly growth velocity (GV-SDS), body mass index (BMI-SDS) and predicted adult height (PAH-SDS) at time of the last available bone age. In the first year, GH was associated with marked increase in HtSDS (+0.46 (0.19, 0.76), p < 0.001) and GV-SDS (from -1.9 (-3.6, -0.7) to +2.7 (0.45, 4.2), p < 0.001). The increase in HtSDS but not in GV-SDS was greatest with younger patients and greater bone age delay, with no effect of sex, BMI-SDS or baseline HtSDS. PAH-SDS increased with treatment (+0.94 (0.18, 1.5)); increased PAH-SDS was associated with less bone age delay and greater initial increase in HtSDS. This study shows that greater bone age delay was associated with greater initial improvement in height but less improvement in predicted adult heights, suggesting that children with very delayed bone ages may show accelerated maturation during GH treatment. PMID:25317732

  18. Pituitary response to thyrotropin releasing hormone in children with overweight and obesity.

    PubMed

    Rijks, Jesse; Penders, Bas; Dorenbos, Elke; Straetemans, Saartje; Gerver, Willem-Jan; Vreugdenhil, Anita

    2016-01-01

    Thyroid stimulating hormone (TSH) concentrations in the high normal range are common in children with overweight and obesity, and associated with increased cardiovascular disease risk. Prior studies aiming at unravelling the mechanisms underlying these high TSH concentrations mainly focused on factors promoting thyrotropin releasing hormone (TRH) production as a cause for high TSH concentrations. However, it is unknown whether TSH release of the pituitary in response to TRH is affected in children with overweight and obesity. Here we describe TSH release of the pituitary in response to exogenous TRH in 73 euthyroid children (39% males) with overweight or (morbid) obesity. Baseline TSH concentrations (0.9-5.5 mU/L) were not associated with BMI z score, whereas these concentrations were positively associated with TSH concentrations 20 minutes after TRH administration (r(2) = 0.484, p < 0.001) and the TSH incremental area under the curve during the TRH stimulation test (r(2) = 0.307, p < 0.001). These results suggest that pituitary TSH release in response to TRH stimulation might be an important factor contributing to high normal serum TSH concentrations, which is a regular finding in children with overweight and obesity. The clinical significance and the intermediate factors contributing to pituitary TSH release need to be elucidated in future studies. PMID:27485208

  19. Pituitary response to thyrotropin releasing hormone in children with overweight and obesity

    PubMed Central

    Rijks, Jesse; Penders, Bas; Dorenbos, Elke; Straetemans, Saartje; Gerver, Willem-Jan; Vreugdenhil, Anita

    2016-01-01

    Thyroid stimulating hormone (TSH) concentrations in the high normal range are common in children with overweight and obesity, and associated with increased cardiovascular disease risk. Prior studies aiming at unravelling the mechanisms underlying these high TSH concentrations mainly focused on factors promoting thyrotropin releasing hormone (TRH) production as a cause for high TSH concentrations. However, it is unknown whether TSH release of the pituitary in response to TRH is affected in children with overweight and obesity. Here we describe TSH release of the pituitary in response to exogenous TRH in 73 euthyroid children (39% males) with overweight or (morbid) obesity. Baseline TSH concentrations (0.9–5.5 mU/L) were not associated with BMI z score, whereas these concentrations were positively associated with TSH concentrations 20 minutes after TRH administration (r2 = 0.484, p < 0.001) and the TSH incremental area under the curve during the TRH stimulation test (r2 = 0.307, p < 0.001). These results suggest that pituitary TSH release in response to TRH stimulation might be an important factor contributing to high normal serum TSH concentrations, which is a regular finding in children with overweight and obesity. The clinical significance and the intermediate factors contributing to pituitary TSH release need to be elucidated in future studies. PMID:27485208

  20. Reinforcement and Stimulant Medication Ameliorate Deficient Response Inhibition in Children with Attention-Deficit/Hyperactivity Disorder.

    PubMed

    Rosch, Keri S; Fosco, Whitney D; Pelham, William E; Waxmonsky, James G; Bubnik, Michelle G; Hawk, Larry W

    2016-02-01

    This study examined the degree to which reinforcement, stimulant medication, and their combination impact response inhibition in children with Attention-Deficit/Hyperactivity Disorder (ADHD). Across three studies, participants with ADHD (n = 111, 25 girls) and typically-developing (TD) controls (n = 33, 6 girls) completed a standard version of the stop signal task (SST) and/or a reinforcement-manipulation SST with performance-contingent points. In two of these studies, these tasks were performed under placebo or 0.3 and 0.6 mg/kg methylphenidate (MPH) conditions. Cross-study comparisons were conducted to test hypotheses regarding the separate and combined effects of reinforcement and methylphenidate on response inhibition among children with ADHD relative to TD controls. Baseline response inhibition was worse among children with ADHD compared to controls. MPH produced dose-related improvements in response inhibition in children with ADHD; compared to non-medicated TD controls, 0.3 mg/kg MPH normalized deficient response inhibition, and 0.6 mg/kg MPH resulted in better inhibition in children with ADHD. Reinforcement improved response inhibition to a greater extent for children with ADHD than for TD children, normalizing response inhibition. The combination of MPH and reinforcement improved response inhibition among children with ADHD compared to reinforcement alone and MPH alone, also resulting in normalization of response inhibition despite repeated task exposure. Deficient response inhibition commonly observed in children with ADHD is significantly improved with MPH and/or reinforcement, normalizing inhibition relative to TD children tested under standard conditions. PMID:25985978

  1. The relationship between iron deficiency anemia and simple febrile convulsion in children

    PubMed Central

    Yousefichaijan, Parsa; Eghbali, Aziz; Rafeie, Mohammad; Sharafkhah, Mojtaba; Zolfi, Mohaddeseh; Firouzifar, Mohammadreza

    2014-01-01

    Background: Simple febrile convulsion is the most common disease of the nervous system in children. There are hypotheses that iron deficiency may affect febrile convulsion and the threshold of neuron excitation. Aims: This study was conducted with the objective of finding the effects of iron deficiency anemia on simple febrile convulsion episodes. Settings and Design: The study was conducted at AmirKabir Hospital of Arak Medical Sciences University, Arak, Iran. This is a case-control study. Materials and Methods: In this study, 382 children who were selected according to our inclusion and exclusion factors, were divided into two groups of case (febrile convulsion) and control (other factors causing fever) by their cause of hospitalization. After fever subsided, 5 ml blood sample was taken from each child and complete blood count and iron profile tests were performed. Statistical Analysis: The results were interpreted using descriptive statistics and independent t-test. Results: The prevalence of anemia in the group with febrile convulsion was significantly less than that in the control group: 22.5% of the children in the group with febrile convulsion and 34% in the control group exhibited anemia (P < 0.001). Moreover, the group with febrile convulsion had significantly higher blood indices, such as Hb, Hct, MCV, MCH, and MCHC, compared to the control group (P < 0.001). Conclusions: Iron deficiency can prevent febrile convulsion in children and probably increases the threshold of neuron excitation in fever. PMID:25250062

  2. Iron Deficiency Anemia among Hospitalized Children in Konya, Turkey

    PubMed Central

    Akin, Fatih; Solak, Ece Selma; Kilicaslan, Cengizhan; Boke, Saltuk Bugra; Arslan, Sukru

    2013-01-01

    The aim of this study was to investigate the characteristics of our hospitalized patients with the diagnosis of iron deficiency anemia (IDA) and effects of the IDA prevention project of the Turkish Ministry of Health which was started in 2004. The recommended dose of prophylactic iron supplementation was 1-2 mg/kg/day. The files of 1519 patients who were hospitalized to Konya Education and Research Hospital Pediatrics Clinic were reviewed. A total of 50 patients consisting of 35 boys and 15 girls with the mean age of 16,59 ± 1,68 months were included into the study. The prevalence of IDA was 3.29% (boys: 4.23%, girls: 2.1%). Hgb and Hct of the patients >24 months were significantly higher than those of the patients with the age of 6–12 months. Iron supplementation receiving rates were very low. Of the 28 patients older than 12 months, only 44% of them had received a full course of iron supplementation for 8 months. In conclusion, although prophylactic iron supplementation lowered the prevalences of IDA, receiving rates of iron supplementation were not adequate. While IDA is still a public health problem, prophylactic approaches should be carried out more effectively. PMID:24455223

  3. Iron Deficiency Anemia among Hospitalized Children in Konya, Turkey.

    PubMed

    Akin, Fatih; Solak, Ece Selma; Kilicaslan, Cengizhan; Boke, Saltuk Bugra; Arslan, Sukru

    2013-01-01

    The aim of this study was to investigate the characteristics of our hospitalized patients with the diagnosis of iron deficiency anemia (IDA) and effects of the IDA prevention project of the Turkish Ministry of Health which was started in 2004. The recommended dose of prophylactic iron supplementation was 1-2 mg/kg/day. The files of 1519 patients who were hospitalized to Konya Education and Research Hospital Pediatrics Clinic were reviewed. A total of 50 patients consisting of 35 boys and 15 girls with the mean age of 16,59 ± 1,68 months were included into the study. The prevalence of IDA was 3.29% (boys: 4.23%, girls: 2.1%). Hgb and Hct of the patients >24 months were significantly higher than those of the patients with the age of 6-12 months. Iron supplementation receiving rates were very low. Of the 28 patients older than 12 months, only 44% of them had received a full course of iron supplementation for 8 months. In conclusion, although prophylactic iron supplementation lowered the prevalences of IDA, receiving rates of iron supplementation were not adequate. While IDA is still a public health problem, prophylactic approaches should be carried out more effectively. PMID:24455223

  4. Peripheral bone mass is not affected by winter vitamin D deficiency in children and young adults from Ushuaia.

    PubMed

    Oliveri, M B; Wittich, A; Mautalen, C; Chaperon, A; Kizlansky, A

    2000-09-01

    Low vitamin D levels in elderly people are associated with reduced bone mass, secondary hyperparathyroidism, and increased fracture risk. Its effect on the growing skeleton is not well known. The aim of this study was to evaluate the possible influence of chronic winter vitamin D deficiency and higher winter parathyroid hormone (PTH) levels on bone mass in prepubertal children and young adults. The study was carried out in male and female Caucasian subjects. A total of 163 prepubertal children (X age +/- 1 SD: 8.9 +/- 0.7 years) and 234 young adults (22.9 +/- 3.6 years) who had never received vitamin D supplementation were recruited from two areas in Argentina: (1)Ushuaia (55 degrees South latitude), where the population is known to have low winter 25OHD levels and higher levels of PTH in winter than in summer, and (2)Buenos Aires (34 degrees S), where ultraviolet (UV) radiation and vitamin D nutritional status in the population are adequate all year round. Bone mineral content (BMC) and bone mineral density (BMD) of the ultradistal and distal radius were measured in the young adults. Only distal radius measurements were taken in the children. Similar results were obtained in age-sex matched groups from both areas. The only results showing significant difference corresponded to comparison among the Ushuaian women: those whose calcium (Ca) intake was below 800 mg/day presented lower BMD and BMC values than those whose Ca intake was above that level (0.469 +/- 0.046 versus 0.498 +/- 0.041 g/cm(2), P < 0.02; 3.131 +/- 0.367 versus 3.339 +/- 0.386 g, P < 0.05, respectively). In conclusion, peripheral BMD and BMC were similar in children and young adults from Ushuaia and Buenos Aires in spite of the previously documented difference between both areas regarding UV radiation and winter vitamin D status. BMD of axial skeletal areas as well the concomitant effect of a low Ca diet and vitamin D deficiency on the growing skeleton should be studied further. PMID:10954776

  5. The prevalence of glucose-6-phosphate dehydrogenase deficiency in Gambian school children

    PubMed Central

    2014-01-01

    Background Primaquine, the only available drug effective against Plasmodium falciparum sexual stages, induces also a dose-dependent haemolysis, especially in glucose-6-phosphate dehydrogenase deficient (G6PDd) individuals. Therefore, it is important to determine the prevalence of this deficiency in areas that would potentially benefit from its use. The prevalence of G6PD deficiency by genotype and enzyme activity was determined in healthy school children in The Gambia. Methods Blood samples from primary school children collected during a dry season malaria survey were screened for G6PDd and malaria infection. Genotypes for allele mutations reported in the country; 376, 202A-, 968A- and 542 were analysed while enzyme activity (phenotype) was assayed using a semi-quantitative commercial test kit. Enzyme activity values were fitted in a finite mixture model to determine the distribution and calculate a cut-off for deficiency. The association between genotype and phenotype for boys and girls as well as the association between mutant genotype and deficient phenotype was analysed. Results Samples from 1,437 children; 51% boys were analysed. The prevalence of P. falciparum malaria infection was 14%. The prevalence of the 202A-, 968 and 542 mutations was 1.8%, 2.1% and 1.0%, respectively, and higher in boys than in girls. The prevalence of G6PDd phenotype was 6.4% (92/1,437), 7.8% (57/728) in boys and 4.9% (35/709) in girls with significantly higher odds in the former (OR 1.64, 95% CI 1.05, 2.53, p = 0.026). The deficient phenotype was associated with reduced odds of malaria infection (OR 0.77, 95% CI 0.36, 1.62, p = 0.49). Conclusions There is a weak association between genotype and phenotype estimates of G6PDd prevalence. The phenotype expression of deficiency represents combinations of mutant alleles rather than specific mutations. Genotype studies in individuals with a deficient phenotype would help identify alleles responsible for haemolysis. PMID:24742291

  6. Higher Prevalence of Iron Deficiency as Strong Predictor of Attention Deficit Hyperactivity Disorder in Children

    PubMed Central

    Bener, A; Kamal, M; Bener, HZ; Bhugra, D

    2014-01-01

    Background: It has been reported that ferritin and iron deficiency may be related to the path physiology of attention deficit hyperactivity disorder (ADHD). Aim: The aim of this study was to determine the association between iron deficiency and ADHD and the impact and role of iron deficiency on the development of ADHD in children. Subjects and Methods: The study based on the case-control study age- and sex-matched control and conducted at the School Health and Primary Healthcare Clinics, Qatar. A total of 630 children with ADHD aged 5-18 and 630 controls aged 5-18 years old. Sociodemographic and clinical data were collected, including physician diagnosis. The health status of the subjects was assessed by ascertaining clinical presentations and symptoms, family history, body mass index (BMI), iron deficiency, ferritin, serum 25-hydroxyvitamin D, calcium, magnesium, and phosphorus levels. Descriptive, univariate, and multivariate statistical analysis were performed. Results: Mean age (standard deviation [SD] in years) for ADHD and control children were 11.54 (3.83) versus 11.50 (3.62). There were statistically significant differences between ADHD versus control children for vitamin D [16.81 (7.84) vs. 22.18 (9.00) ng/ml], serum iron [82.11 (13.61) vs. 85.60 (12.47) ng/ml], ferritin [36.26 (5.93) vs. 38.19 (5.61) ng/ml], hemoglobin [12.02 (2.13) vs. 12.89 (2.02) g/dL], magnesium [0.82 (0.08) vs. 0.88 (0.06) mmol/L], serum calcium level [2.35 (0.12) vs. 2.39 (0.14) mmol/L], and phosphorous [1.47 (0.30) vs. 1.54 (0.26) mmol/L]. Of total 630 of ADHD children, 116 (18.4%) had severe vitamin D deficiency (<10 ng/ml). Multivariate logistic regression analysis revealed that serum vitamin D level, serum iron, ferritin, serum calcium level, physical activity, nervous behavior, consanguinity, BMI, and child order were considered as the main factors associated with the ADHD after adjusting for age, gender, and other variables. Conclusion: The study indicates that low serum iron

  7. Elevated Serum Polybrominated Diphenyl Ethers and Alteration of Thyroid Hormones in Children from Guiyu, China

    PubMed Central

    Xu, Xijin; Liu, Junxiao; Zeng, Xiang; Lu, Fangfang; Chen, Aimin; Huo, Xia

    2014-01-01

    Informal electronic waste (e-waste) recycling results in serious environmental pollution of polybrominated diphenyl ethers (PBDEs) and heavy metals. This study explored whether there is an association between PBDEs, heavy metal and key growth- and development-related hormones in children from Guiyu, an e-waste area in southern China. We quantified eight PBDE congeners using gas chromatographic mass spectrometry, lead and cadmium utilizing graphite furnace atomic absorption spectrometry, three thyroids with radioimmunoassay and two types of growth hormones by an enzyme-linked immune-sorbent assay (ELISA) in 162 children, 4 to 6 years old, from Guiyu. In blood, median total PBDE was 189.99 ng/g lipid. Lead and cadmium concentrations in blood averaged 14.53±4.85 µg dL−1 and 0.77±0.35 µg L−1, respectively. Spearman partial correlation analysis illustrated that lead was positively correlated with BDE153 and BDE183. Thyroid-stimulating hormone (TSH) was positively correlated with almost all PBDE congeners and negatively correlated with insulin-like growth factor binding protein-3 (IGFBP-3), whereas free triiodothyronine (FT3) and free thyroxine (FT4) were negatively correlated with BDE154. However, no correlation between the hormones and blood lead or cadmium levels was found in this study. Adjusted multiple linear regression analysis showed that total PBDEs was negatively associated with FT3 and positively associated with TSH. Notably, FT4 was positively correlated with FT3, house functions as a workshop, and father's work involved in e-waste recycling and negatively correlated with vitamin consumptions. TSH was negatively related with FT4, paternal residence time in Guiyu, working hours of mother, and child bean products intake. IGFBP-3 was positively correlated with IGF-1 and house close to an e-waste dump. These results suggest that elevated PBDEs and heavy metals related to e-waste in Guiyu may be important risk factors for hormone alterations in children

  8. Deficiencies in culturally competent asthma care for ethnic minority children: a qualitative assessment among care providers

    PubMed Central

    2012-01-01

    Background Asthma outcomes are generally worse for ethnic minority children. Cultural competence training is an instrument for improving healthcare for ethnic minority patients. To develop effective training, we explored the mechanisms in paediatric asthma care for ethnic minority patients that lead to deficiencies in the care process. Methods We conducted semi-structured interviews on care for ethnic minority children with asthma (aged 4-10 years) with paediatricians (n = 13) and nurses (n = 3) in three hospitals. Interviews were analysed qualitatively with a framework method, using a cultural competence model. Results Respondents mentioned patient non-adherence as the central problem in asthma care. They related non-adherence in children from ethnic minority backgrounds to social context factors, difficulties in understanding the chronic nature of asthma, and parents’ language barriers. Reactions reported by respondents to patients’ non-adherence included retrieving additional information, providing biomedical information, occasionally providing referrals for social context issues, and using informal interpreters. Conclusions This study provides keys to improve the quality of specialist paediatric asthma care to ethnic minority children, mainly related to non-adherence. Care providers do not consciously recognise all the mechanisms that lead to deficiencies in culturally competent asthma care they provide to ethnic minority children (e.g. communicating mainly from a biomedical perspective and using mostly informal interpreters). Therefore, the learning objectives of cultural competence training should reflect issues that care providers are aware of as well as issues they are unaware of. PMID:22551452

  9. Anemia and Iron Deficiency in Vietnamese Children, 6 to 11 Years Old.

    PubMed

    Le Nguyen Bao, Khanh; Tran Thuy, Nga; Nguyen Huu, Chinh; Khouw, Ilse; Deurenberg, Paul

    2016-07-01

    In a population sample of 385 children, 6 to 11 years old, venous blood parameters-hemoglobin (Hb), ferritin, red blood cell count (RBC), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), C-reactive protein (CRP), and α1-acid glycoprotein (AGP)-were determined to get insight into the iron status. The prevalence of anemia was 11.4%; 5.6% had iron deficiency (ID), whereas 0.4% had ID anemia. Correction for inflammation based on CRP and AGP did not markedly change the overall prevalence of ID and ID anemia. Stunted children had lower Hb and ferritin values compared with nonstunted children, and thin children had lower values compared with normal-weight or overweight and obese children. Many nonanemic children had alert values for RBC, MCV, MCH, and MCHC. It is concluded that although the prevalence of anemia is of the magnitude of a mild public health problem, the iron status of many nonanemic children is borderline, as indicated by a high number of children with low values for red blood cytology. PMID:27052301

  10. Urinary levels of early kidney injury molecules in children with vitamin B12 deficiency.

    PubMed

    Güneş, Ali; Aktar, Fesih; Tan, İlhan; Söker, Murat; Uluca, Ünal; Balık, Hasan; Mete, Nuriye

    2016-10-01

    The aim of this study was to investigate urine early kidney injury molecules, including human kidney injury molecule-1 (KIM-1), liver-type fatty-acid binding protein (L-FABP), N-acetyl-b-D-glucosaminidase A (NAG), and neutrophil gelatinase-associated lipocalin (NGAL) in children with vitamin B12 (cobalamin) deficiency (CD). Twelve children with vitamin B12 deficiency and 20 healthy matched controls were included. Hematologic parameters, serum urea, creatinine (Cr), electrolytes, B12 and folate levels were recorded. Estimated glomerular filtration rate (eGFR) was calculated. Urine protein, electrolytes, andurinary early markers were measured. Patients with CD had significantly higher urine electrolyte/Cr ratios (p <0.05). Significantly higher urinary KIM-1/Cr, L-FABP/Cr, NAG/Cr and NGAL/Cr were found in CD group (p <0.05). Significant negative correlations were found between levels of serum B12 and urinary markers in the patients (p <0.05). Increased urinary kidney injury molecules and electrolytes in children with B12 deficiency suggest a possible subclinical renal dysfunction, which cannot be determined by conventional kidney function tests. PMID:27606644

  11. Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.

    PubMed

    Dusatkova, Petra; Pfäffle, Roland; Brown, Milton R; Akulevich, Natallia; Arnhold, Ivo J P; Kalina, Maria A; Kot, Karolina; Krzisnik, Ciril; Lemos, Manuel C; Malikova, Jana; Navardauskaite, Ruta; Obermannova, Barbora; Pribilincova, Zuzana; Sallai, Agnes; Stipancic, Gordana; Verkauskiene, Rasa; Cinek, Ondrej; Blum, Werner F; Parks, John S; Austerlitz, Frederic; Lebl, Jan

    2016-03-01

    Two variants (c.[301_302delAG];[301_302delAG] and c.[150delA];[150delA]) in the PROP1 gene are the most common genetic causes of recessively inherited combined pituitary hormones deficiency (CPHD). Our objective was to analyze in detail the origin of the two most prevalent variants. In the multicentric study were included 237 patients with CPHD and their 15 relatives carrying c.[301_302delAG];[301_302delAG] or c.[150delA];[150delA] or c.[301_302delAG];[ 150delA]. They originated from 21 different countries worldwide. We genotyped 21 single-nucleotide variant markers flanking the 9.6-Mb region around the PROP1 gene that are not in mutual linkage disequilibrium in the general populations--a finding of a common haplotype would be indicative of ancestral origin of the variant. Haplotypes were reconstructed by Phase and Haploview software, and the variant age was estimated using an allelic association method. We demonstrated the ancestral origin of both variants--c.[301_302delAG] was carried on 0.2 Mb-long haplotype in a majority of European patients arising ~101 generations ago (confidence interval 90.1-116.4). Patients from the Iberian Peninsula displayed a different haplotype, which was estimated to have emerged 23.3 (20.1-29.1) generations ago. Subsequently, the data indicated that both the haplotypes were transmitted to Latin American patients ~13.8 (12.2-17.0) and 16.4 (14.4-20.1) generations ago, respectively. The c.[150delA] variant that was carried on a haplotype spanning about 0.3 Mb was estimated to appear 43.7 (38.4-52.7) generations ago. We present strong evidence that the most frequent variants in the PROP1 gene are not a consequence of variant hot spots as previously assumed, but are founder variants. PMID:26059845

  12. Extracellular Water and Blood Pressure in Adults with Growth Hormone (GH) Deficiency: A Genotype-Phenotype Association Study

    PubMed Central

    Nilsson, Anna G.; Bosaeus, Niklas; Nyström, Helena Filipsson; Svensson, Per-Arne; Bengtsson, Bengt-Åke; Nilsson, Staffan; Bosaeus, Ingvar; Boguszewski, Cesar Luiz; Johannsson, Gudmundur

    2014-01-01

    Objectives Growth hormone deficiency (GHD) in adults is associated with decreased extracellular water volume (ECW). In response to GH replacement therapy (GHRT), ECW increases and blood pressure (BP) reduces or remains unchanged. Our primary aim was to study the association between polymorphisms in genes related to renal tubular function with ECW and BP before and 1 year after GHRT. The ECW measures using bioimpedance analysis (BIA) and bioimpedance spectroscopy (BIS) were validated against a reference method, the sodium bromide dilution method (Br−). Design and Methods Using a candidate gene approach, fifteen single-nucleotide polymorphisms (SNPs) in nine genes with known impact on renal tubular function (AGT, SCNN1A, SCNN1G, SLC12A1, SLC12A3, KCNJ1, STK39, WNK1 and CASR) were genotyped and analyzed for associations with ECW and BP at baseline and with their changes after 1 year of GHRT in 311 adult GHD patients. ECW was measured with the Br−, BIA, and BIS. Results Both BIA and BIS measurements demonstrated similar ECW results as the reference method. At baseline, after adjustment for sex and BMI, SNP rs2291340 in the SLC12A1 gene was associated with ECW volume in GHD patients (p = 0.039). None of the SNPs influenced the ECW response to GHRT. One SNP in the SLC12A3 gene (rs11643718; p = 0.024) and three SNPs in the SCNN1G gene [rs5723 (p = 0.02), rs5729 (p = 0.016) and rs13331086 (p = 0.035)] were associated with the inter-individual differences in BP levels at baseline. A polymorphism in the calcium-sensing receptor (CASR) gene (rs1965357) was associated with changes in systolic BP after GHRT (p = 0.036). None of these associations remained statistically significant when corrected for multiple testing. Conclusion The BIA and BIS are as accurate as Br− to measure ECW in GHD adults before and during GHRT. Our study provides the first evidence that individual polymorphisms may have clinically relevant effects on ECW and BP in GHD adults

  13. Recombinant growth hormone therapy for cystic fibrosis in children and young adults

    PubMed Central

    Thaker, Vidhu; Haagensen, Alexandra L; Carter, Ben; Fedorowicz, Zbys; Houston, Brian W

    2015-01-01

    Background Cystic fibrosis is an inherited condition causing disease most noticeably in the lungs, digestive tract and pancreas. People with cystic fibrosis often have malnutrition and growth delay. Adequate nutritional supplementation does not improve growth optimally and hence an anabolic agent, recombinant growth hormone, has been proposed as a potential intervention. Objectives To evaluate the effectiveness and safety of recombinant human growth hormone therapy in improving lung function, quality of life and clinical status of children and young adults with cystic fibrosis. Search methods We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group’s Trials Register comprising references identified from comprehensive electronic database searches and handsearches of relevant journals and abstract books of conference proceedings. Date of latest search: 11 February 2015. We conducted a search of relevant endocrine journals and proceedings of the Endocrinology Society meetings using Scopus and Proceedings First. Date of latest search: 04 March 2015. Selection criteria Randomised and quasi-randomised controlled trials of all preparations of recombinant growth hormone compared to either no treatment, or placebo, or each other at any dose (high-dose and low-dose) or route and for any duration, in children or young adults aged up to 25 years diagnosed with cystic fibrosis (by sweat test or genetic testing). Data collection and analysis Two authors independently screened papers, extracted trial details and assessed their risk of bias. Main results Four controlled trials were included in this review (with 161 participants in total), each with an unclear risk of bias. Analysis of data obtained from these trials shows improvement in height for all comparisons, but improvements in weight and lean tissue mass were only reported in the comparison of standard dose recombinant growth hormone versus no treatment. One study showed moderate improvement at one time point

  14. Clinical characteristics and follow-up of 5 young Chinese males with gonadotropin-releasing hormone deficiency caused by mutations in the KAL1 gene

    PubMed Central

    Li, Juan; Li, Niu; Ding, Yu; Huang, Xiaodong; Shen, Yongnian; Wang, Jian; Wang, Xiumin

    2015-01-01

    Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) pertains to a group of genetic disorders consisting of anosmic hypogonadotropic hypogonadism (Kallmann syndrome, KS) and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). KS is genetically heterogeneous. We hereby present 5 young male patients with GnRH deficiency caused by mutations in the KAL1 gene. Their ages ranged from 9 months to 16 years. They were referred to our department for an endocrine consultation for micropenis. Hormone assays showed low circulating gonadotropins and testosterone. Molecular studies revealed KAL1 mutations in all cases, three reported nonsense sequence variants in the KAL1 gene were detected in 4 patients, respectively (c.784C > T (p.Arg 262*), c.1267C > T (p.Arg423*), and c.1270C > T (p.Arg424*)), and one patient harbored a novel hemizygous sequence variant [c.227G > A (p.Trp76*)]. Only one patient presented short stature without growth hormone deficiency and anosmia. Another patient had bilateral eyelid ptosis, trichiasis, and refractive error. This is the first report on the co-occurrence of a KAL1 gene mutation and tent-like upper lip in four patients. All of our cases had normal olfactory bulbs and showed no renal agenesis, cleft lip/palate, and hearing impairment. These cases expand our knowledge of the phenotype associated with KAL1 sequence variations, although the precise mechanism by which KAL1 gene influences the development of this phenotype is still unknown. PMID:26862482

  15. Thyroid hormone-regulated mouse cerebral cortex genes are differentially dependent on the source of the hormone: a study in monocarboxylate transporter-8- and deiodinase-2-deficient mice.

    PubMed

    Morte, Beatriz; Ceballos, Ainhoa; Diez, Diego; Grijota-Martínez, Carmen; Dumitrescu, Alexandra M; Di Cosmo, Caterina; Galton, Valerie Anne; Refetoff, Samuel; Bernal, Juan

    2010-05-01

    Thyroid hormones influence brain development through the control of gene expression. The concentration of the active hormone T(3) in the brain depends on T(3) transport through the blood-brain barrier, mediated in part by the monocarboxylate transporter 8 (Mct8/MCT8) and the activity of type 2 deiodinase (D2) generating T(3) from T(4). The relative roles of each of these pathways in the regulation of brain gene expression is not known. To shed light on this question, we analyzed thyroid hormone-dependent gene expression in the cerebral cortex of mice with inactivated Mct8 (Slc16a2) and Dio2 genes, alone or in combination. We used 34 target genes identified to be controlled by thyroid hormone in microarray comparisons of cerebral cortex from wild-type control and hypothyroid mice on postnatal d 21. Inactivation of the Mct8 gene (Mct8KO) was without effect on the expression of 31 of these genes. Normal gene expression in the absence of the transporter was mostly due to D2 activity because the combined disruption of Mct8 and Dio2 led to similar effects as hypothyroidism on the expression of 24 genes. Dio2 disruption alone did not affect the expression of positively regulated genes, but, as in hypothyroidism, it increased that of negatively regulated genes. We conclude that gene expression in the Mct8KO cerebral cortex is compensated in part by D2-dependent mechanisms. Intriguingly, positive or negative regulation of genes by thyroid hormone is sensitive to the source of T(3) because Dio2 inactivation selectively affects the expression of negatively regulated genes. PMID:20211971

  16. Vitamin A deficiency and inflammatory markers among preschool children in the Republic of the Marshall Islands

    PubMed Central

    Maqsood, Maria; Dancheck, Barbara; Gamble, Mary V; Palafox, Neal A; Ricks, Michelle O; Briand, Kennar; Semba, Richard D

    2004-01-01

    Background The exclusion of individuals with elevated acute phase proteins has been advocated in order to improve prevalence estimates of vitamin A deficiency in surveys, but it is unclear whether this will lead to sampling bias. The purpose of the study was to determine whether the exclusion of individuals with elevated acute phase proteins is associated with sampling bias and to characterize inflammation in children with night blindness. Methods In a survey in the Republic of the Marshall Islands involving 281 children, aged 1–5 years, serum retinol, C-reactive protein (CRP), and α1-acid glycoprotein (AGP) were measured. Results Of 281 children, 24 (8.5%) had night blindness and 165 (58.7%) had serum retinol <0.70 μmol/L. Of 248 children with AGP and CRP measurements, 123 (49.6%) had elevated acute phase proteins (CRP >5 mg/L and/or AGP >1000 mg/L). Among children with and without night blindness, the proportion with serum retinol <0.70 μmol/L was 79.2% and 56.8% (P = 0.03) and with anemia was 58.3% and 35.7% (P = 0.029), respectively. The proportion of children with serum retinol <0.70 μmol/L was 52.0% after excluding children with elevated acute phase proteins. Among children with and without elevated acute phase proteins, mean age was 2.8 vs 3.2 years (P = 0.016), the proportion of boys was 43.1% vs. 54.3% (P = 0.075), with no hospitalizations in the last year was 11.0% vs 23.6% (P = 0.024), and with anemia was 43.8% vs 31.7% (P = 0.05), respectively. Conclusions Exclusion of children with inflammation in this survey of vitamin A deficiency does not improve prevalence estimates for vitamin A deficiency and instead leads to sampling bias for variables such as age, gender, anemia, and hospitalization history. PMID:15588289

  17. Hormone treatment of children and adolescents with gender dysphoria: an ethical analysis.

    PubMed

    Abel, Brendan S

    2014-09-01

    In the context of transgender health, most people are not comfortable with allowing a twelve-year-old child with gender dysphoria to elect to undergo gender reassignment surgery. The likelihood is too high that the child would be unable to fully comprehend the scope of a decision that carries significant, permanent consequences, particularly because the decision to surgically change gender is based upon a conception of gender that can fluctuate during adolescent years. Conversely, however, most people would not contend that this fluidity is reason to wholly deny certain medical care such as hormonal treatments to transgender youth, a demographic with extremely high rates of violent behavior, self-harm, and suicide. This paper will explore ethical considerations to this emerging debate of what therapeutic options should be offered to transgender children and adolescents. Pediatric endocrinologists have been treating gender dysphoric adolescents with puberty-suppressing drugs and, to a lesser extent, with cross-sex hormone therapies for more than twenty years. Clinicians and thought leaders have mentioned ethical components of this emerging practice in the few cohort studies and clinical review articles about the subject. However, ethics have generally been a secondary consideration in the medical academic literature. In this paper, I will provide a brief overview of the practice, summarize the current research on hormone treatment for transgender minors, and provide an ethical analysis of the practice. PMID:25231782

  18. Mercury exposure, nutritional deficiencies and metabolic disruptions may affect learning in children

    PubMed Central

    Dufault, Renee; Schnoll, Roseanne; Lukiw, Walter J; LeBlanc, Blaise; Cornett, Charles; Patrick, Lyn; Wallinga, David; Gilbert, Steven G; Crider, Raquel

    2009-01-01

    Among dietary factors, learning and behavior are influenced not only by nutrients, but also by exposure to toxic food contaminants such as mercury that can disrupt metabolic processes and alter neuronal plasticity. Neurons lacking in plasticity are a factor in neurodevelopmental disorders such as autism and mental retardation. Essential nutrients help maintain normal neuronal plasticity. Nutritional deficiencies, including deficiencies in the long chain polyunsaturated fatty acids eicosapentaenoic acid and docosahexaenoic acid, the amino acid methionine, and the trace minerals zinc and selenium, have been shown to influence neuronal function and produce defects in neuronal plasticity, as well as impact behavior in children with attention deficit hyperactivity disorder. Nutritional deficiencies and mercury exposure have been shown to alter neuronal function and increase oxidative stress among children with autism. These dietary factors may be directly related to the development of behavior disorders and learning disabilities. Mercury, either individually or in concert with other factors, may be harmful if ingested in above average amounts or by sensitive individuals. High fructose corn syrup has been shown to contain trace amounts of mercury as a result of some manufacturing processes, and its consumption can also lead to zinc loss. Consumption of certain artificial food color additives has also been shown to lead to zinc deficiency. Dietary zinc is essential for maintaining the metabolic processes required for mercury elimination. Since high fructose corn syrup and artificial food color additives are common ingredients in many foodstuffs, their consumption should be considered in those individuals with nutritional deficits such as zinc deficiency or who are allergic or sensitive to the effects of mercury or unable to effectively metabolize and eliminate it from the body. PMID:19860886

  19. Vitamin D status among Thai school children and the association with 1,25-Dihydroxyvitamin D and parathyroid hormone levels.

    PubMed

    Houghton, Lisa A; Gray, Andrew R; Harper, Michelle J; Winichagoon, Pattanee; Pongcharoen, Tippawan; Gowachirapant, Sueppong; Gibson, Rosalind S

    2014-01-01

    In several low latitude countries, vitamin D deficiency is emerging as a public health issue. Adequate vitamin D is essential for bone health in rapidly growing children. In the Thai population, little is known about serum 25-hydroxyvitamin D [25(OH)D] status of infants and children. Moreover, the association between 25(OH)D and the biological active form of 1,25-dihydroxyvitamin D [1,25(OH)]2D is not clear. The specific aims of this study were to characterize circulating serum 25(OH)D, 1,25(OH)2D and their determinants including parathyroid hormone (PTH), age, sex, height and body mass index (BMI) in 529 school-aged Thai children aged 6-14 y. Adjusted linear regression analysis was performed to examine the impact of age and BMI, and its interaction with sex, on serum 25(OH)D concentrations and 1,25(OH)2D concentrations. Serum 25(OH)D, 1,25(OH)2D and PTH concentrations (geometric mean ± geometric SD) were 72.7±1.2 nmol/L, 199.1±1.3 pmol/L and 35.0±1.5 ng/L, respectively. Only 4% (21 of 529) participants had a serum 25(OH)D level below 50 nmol/L. There was statistically significant evidence for an interaction between sex and age with regard to 25(OH)D concentrations. Specifically, 25(OH)D concentrations were 19% higher in males. Moreover, females experienced a statistically significant 4% decline in serum 25(OH)D levels for each increasing year of age (P = 0.001); no decline was seen in male participants with increasing age (P = 0.93). When BMI, age, sex, height and serum 25(OH)D were individually regressed on 1,25(OH)2D, height and sex were associated with 1,25(OH)2D with females exhibiting statistically significantly higher serum 1,25(OH)2D levels compared with males (P<0.001). Serum 1,25(OH)2D among our sample of children exhibiting fairly sufficient vitamin D status were higher than previous reports suggesting an adaptive mechanism to maximize calcium absorption. PMID:25111832

  20. Knowledge, awareness, attitudes and sources of vitamin D deficiency and sufficiency in Saudi children

    PubMed Central

    Alshamsan, Fatimah M.; Bin-Abbas, Bassam S.

    2016-01-01

    Objectives: To examine the awareness, knowledge, and attitudes regarding vitamin D and its sources among Saudi Arabian children. Methods: One hundred patients (vitamin D-deficient children) and 100 healthy children participated in the study. Participants were interviewed separately on topics including their awareness, knowledge, and attitudes regarding vitamin D using multiple-choice, and short-answer questions. This prospective, cross-sectional study was performed on children and adolescents between January 2011 and December 2011 at the Security Forces Hospital, Riyadh, Saudi Arabia. Results: Only 28% were aware of the sources of vitamin D, while 64% of healthy subjects were aware. Similarly, only 50% of patients and their parents knew of the health benefits of vitamin D, while 70% of healthy subjects had knowledge. Hence, our findings agree with previous findings that low levels of awareness and knowledge regarding vitamin D and its sources persist. Conclusion: Most vitamin D deficient cases were unaware of vitamin D sources. However, half of the patient/parents were aware of benefits of vitamin D. Hence, we recommend that an improved campaign for awareness, knowledge, and attitudes regarding vitamin D and its sources are needed. PMID:27146624

  1. Prevalence of Iron Deficiency Anaemia Among School Children in Kenitra, Northwest of Morocco.

    PubMed

    Achouri, I; Aboussaleh, Y; Sbaibi, R; Ahami, A; El Hioui, M

    2015-04-01

    Iron deficiency anaemia is an important health problem in Morocco. This study was conducted to estimate the prevalence of anaemia among school children in Kenitra. The sample represents school children of all educational levels and age ranged between 6-15 years. The level of hemoglobin, haematocrit, mean corpuscular volume, mean corpuscular hemoglobin and mean corpuscular hemoglobin concentration was measured in a group of 271 school children. The seric iron was assessed and anaemia was defined when hemoglobin < 11.5 g dL(-1). A questionnaire was developed to obtain information about the daily food consumption and socio-economic conditions. The prevalence of anaemia was 16.2%. The mean hemoglobin concentration was 12.53 g dL(-1) in boys and 12.52 g dL(-1) in girls. The results suggest that iron deficiency is an important determinant of anaemia in this population. There was a significant relationship between education of the mother and anaemia in children (p = 0.004) but not with the family income. It is concluded that improving the economic status of the family, women education and health education about balanced animal and plant food consumption are recommended strategies to reduce the burden of anaemia. PMID:26506650

  2. Calcium-regulating hormones, bone mineral content, breaking load and trabecular remodeling are altered in growing pigs fed calcium-deficient diets.

    PubMed

    Eklou-Kalonji, E; Zerath, E; Colin, C; Lacroix, C; Holy, X; Denis, I; Pointillart, A

    1999-01-01

    Studies on calcium nutrition in appropriate large animal models can be directly relevant to humans. We have examined the effect of dietary Ca deficiency on various bone and bone-related variables, including plasma markers, histomorphometry, mineral content and breaking strength in pigs. Three groups of eight 38-d-old female pigs were fed adequate (0.9%; control), low (0.4%; LCa) or very low (0.1%; VLCa) Ca diets for 32 d. Plasma Ca significantly decreased over time only in the VLCa-deficient pigs. The concentrations of the parathyroid hormones (PTH) and calcitriol increased as Ca deficiency developed, and the plasma PTH and calcitriol levels varied inversely with dietary Ca. The total bone ash contents, bending moments, trabecular bone volume and the mineral apposition rate all decreased as the calcium intake decreased. The osteoclast surface areas were greater than those of controls in both Ca-deficient groups, whereas the osteoblast surface areas were greater only in the VLCa group. The plasma osteoblast-related markers (alkaline phosphatase, carboxy-terminal propeptide of type I procollagen and osteocalcin) were either greater or unaffected in the Ca-deficient pigs. The results indicate that deficient bone mineralization combined with an increased bone resorption led to bone loss and fragility. The differences in the changes in bone cells (number and activity) between LCa and VLCa groups might be due to differences (time and extent) of circulating PTH and calcitriol. The defective mineralization in both Ca-depleted groups resulted mainly from the lack of Ca because their osteoblast activity was either maintained or stimulated. The results also underline the progressive sensitivity of pigs to Ca supply and the usefulness of this model. PMID:9915898

  3. Leptin in pediatrics: A hormone from adipocyte that wheels several functions in children

    PubMed Central

    Soliman, Ashraf T.; Yasin, Mohamed; Kassem, Ahmed

    2012-01-01

    The protein leptin, a pleiotropic hormone regulates appetite and energy balance of the body and plays important roles in controlling linear growth, pubertal development, cardiovascular function, and immunity. Recent findings in the understanding of the structure, functional roles, and clinical significance of conditions with increased and decreased leptin secretion are summarized. Balance between leptin and other hormones is significantly regulated by nutritional status. This balance influences many organ systems, including the brain, liver, and skeletal muscle, to mediate the essential adaptation process. The aim of this review is to summarize the possible physiological functions of leptin and its signaling pathways during childhood and adolescence including control of food intake, energy regulation, growth and puberty, and immunity. Moreover, its secretion and possible roles in the adaptation process during different disease states (obesity, malnutrition, eating disorders, delayed puberty, congenital heart diseases and hepatic disorders) are discussed. The clinical manifestations and the successful management of patients with genetic leptin deficiency and the application of leptin therapy in other diseases including lipodystrophy, states with severe insulin resistance, and diabetes mellitus are discussed. PMID:23565493

  4. Adult-Onset Deficiency in Growth Hormone and Insulin-Like Growth Factor-I Alters Oligodendrocyte Turnover in the Corpus Callosum

    PubMed Central

    Hua, Kun; Forbes, M. Elizabeth; Lichtenwalner, Robin J.; Sonntag, William E.; Riddle, David R.

    2009-01-01

    Growth hormone (GH) and insulin-like growth factor-I (IGF-I) provide trophic support during development and also appear to influence cell structure, function and replacement in the adult brain. Recent studies demonstrated effects of the GH/IGF-I axis on adult neurogenesis, but it is unclear whether the GH/IGF-I axis influences glial turnover in the normal adult brain. In the current study we used a selective model of adult-onset GH and IGF-I deficiency to evaluate the role of GH and IGF-I in regulating glial proliferation and survival in the adult corpus callosum. GH/IGF-I-deficient dwarf rats of the Lewis strain were made GH/IGF-I replete via twice daily injections of GH starting at postnatal day 28 (P28), approximately the age at which GH pulse amplitude increases in developing rodents. GH/IGF-I deficiency was initiated in adulthood by removing animals from GH treatment. Quantitative analyses revealed that adult-onset GH/IGF-I deficiency decreased cell proliferation in the white matter and decreased the survival of newborn oligodendrocytes. These findings are consistent with the hypothesis that aging-related changes in the GH/IGF-I axis produce deficits in ongoing turnover of oligodendrocytes, which may contribute to aging-related cognitive changes and deficits in remyelination after injury. PMID:19115393

  5. Metabolic and Hormonal Changes of Severely Burned Children Receiving Long-Term Oxandrolone Treatment

    PubMed Central

    Przkora, Rene; Jeschke, Marc G.; Barrow, Robert E.; Suman, Oscar E.; Meyer, Walter J.; Finnerty, Celeste C.; Sanford, Arthur P.; Lee, Jong; Chinkes, David L.; Mlcak, Ronald P.; Herndon, David N.

    2005-01-01

    Objective: When given to children for 1 year after a severe burn, oxandrolone significantly improves lean body mass, bone mineral content, and muscle strength. The beneficial effects of oxandrolone on height and weight were observed 1 year after treatment was discontinued. To study the efficacy of oxandrolone in severely burned children for 12 months after burn and 12 months after the drug was discontinued. Summary Background Data: Oxandrolone attenuates body catabolism during the acute phase after burn. It is unclear whether oxandrolone would have any beneficial effects during long-term treatment or if there were any effects after the drug was stopped. Methods: Sixty-one children with 40% total body surface area burns were enrolled in this study. Patients were randomized into those to receive oxandrolone (n = 30) or placebo (n = 31) for the first 12 months. Treatment was discontinued after 12 months, and the patients were studied without the drug for the following 12 months. At discharge and 6, 12, 18, and 24 months after burn, height, weight, body composition, resting energy expenditure, muscle strength, and serum human growth hormone, insulin-like growth factor-I (IGF-1), IGF binding protein-3, insulin, cortisol, parathyroid hormone, tri-iodothyronine uptake (T3 uptake), and free thyroxine index (FTI) were measured. Statistical analysis used Tukey multiple comparison test. Significance was accepted at P < 0.05. Results: Oxandrolone improved lean body mass, bone mineral content and muscle strength compared with controls during treatment, P < 0.05. Serum IGF-1, T3 uptake, and FTI were significantly higher during drug treatment compared with controls, P < 0.05. Significant increases in height and weight with oxandrolone were observed after the end of treatment. Conclusions: Oxandrolone improved body composition and strength in severely burned children during the 12 months of treatment. Its effect on height and weight continued after treatment was discontinued. PMID

  6. Efficacy and safety of growth hormone treatment for children born small for gestational age

    PubMed Central

    2014-01-01

    Recombinant growth hormone (GH) is an effective treatment for short children who are born small for gestational age (SGA). Short children born SGA who fail to demonstrate catch-up growth by 2-4 years of age are candidates for GH treatment initiated to achieve catch-up growth to a normal height in early childhood, maintain a normal height gain throughout childhood, and achieve an adult height within the normal target range. GH treatment at a dose of 35-70 µg/kg/day should be considered for those with very marked growth retardation, as these patients require rapid catch-up growth. Factors associated with response to GH treatment during the initial 2-3 years of therapy include age and height standard deviation scores at the start of therapy, midparental height, and GH dose. Adverse events due to GH treatment are no more common in the SGA population than in other conditions treated with GH. Early surveillance in growth clinics is strongly recommended for children born SGA who have not caught up. Although high dose of up to 0.067 mg/kg/day are relatively safe for short children with growth failure, clinicians need to remain aware of long-term mortality and morbidity after GH treatment. PMID:25324863

  7. Growth Hormone Deficiency, Short Stature, and Juvenile Rheumatoid Arthritis in a Patient with Autoimmune Polyglandular Syndrome Type 1: Case Report and Brief Review of the Literature

    PubMed Central

    Pun, Teresa; Chandurkar, Vikram

    2011-01-01

    Autoimmune polyglandular syndromes (APSs) include a cluster of autoimmune and nonautoimmune conditions which have been classified into subtypes. APSs type 1 is characterized by at least two of the following: chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and autoimmune Addison's disease (AD). We report the chronological history of a female patient who presented with features most consistent with APS type 1, along with growth hormone deficiency and juvenile rheumatoid arthritis (JRA). In terms of her autoimmune diagnoses, she first presented with JRA at three years of age, then hypocalcemia and hypoparathyroidism at five years of age, type 1 diabetes (DM 1) at age eleven years, adrenal insufficiency at age fourteen years, recurrent mucocutaneous candidiasis as a teenager, growth hormone deficiency at age fourteen years leading to significant short stature, primary amenorrhoea, and hypogonadism, and finally alopecia at age twenty-six years. In addition to this, she has suffered other nonautoimmune medical problems including a Tetralogy of Fallot with a surgical repair at age six years. On review of the medical literature, we found no other previously reported case with this unique combination of medical problems. PMID:22363878

  8. Nutritional assessment methods for zinc supplementation in prepubertal non-zinc-deficient children

    PubMed Central

    Lopes, Márcia Marília Gomes Dantas; de Brito, Naira Josele Neves; de Medeiros Rocha, Érika Dantas; França, Mardone Cavalcante; de Almeida, Maria das Graças; Brandão-Neto, José

    2015-01-01

    Background Zinc is an essential nutrient that is required for numerous metabolic functions, and zinc deficiency results in growth retardation, cell-mediated immune dysfunction, and cognitive impairment. Objective This study evaluated nutritional assessment methods for zinc supplementation in prepubertal non-zinc-deficient children. Design We performed a randomised, controlled, triple-blind study. The children were divided into a control group (10% sorbitol, n=31) and an experimental group (10 mg Zn/day, n=31) for 3 months. Anthropometric and dietary assessments as well as bioelectrical measurements were performed in all children. Results Our study showed (1) an increased body mass index for age and an increased phase angle in the experimental group; (2) a positive correlation between nutritional assessment parameters in both groups; (3) increased soft tissue, and mainly fat-free mass, in the body composition of the experimental group, as determined using bioelectrical impedance vector analysis; (4) increased consumption of all nutrients, including zinc, in the experimental group; and (5) an increased serum zinc concentration in both groups (p<0.0001). Conclusions Given that a reference for body composition analysis does not exist for intervention studies, longitudinal studies are needed to investigate vector migration during zinc supplementation. These results reinforce the importance of employing multiple techniques to assess the nutritional status of populations. PMID:26507491

  9. Prolonged retention after aggregation into secretory granules of human R183H-growth hormone (GH), a mutant that causes autosomal dominant GH deficiency type II.

    PubMed

    Zhu, Yong Lian; Conway-Campbell, Becky; Waters, Michael J; Dannies, Priscilla S

    2002-11-01

    Human R183H-GH causes autosomal dominant GH deficiency type II. Because we show here that the mutant hormone is fully bioactive, we have sought to locate an impairment in its progress through the secretory pathway as assessed by pulse chase experiments. Newly synthesized wild-type and R183H-GH were stable when expressed transiently in AtT20 cells, and both formed equivalent amounts of Lubrol-insoluble aggregates within 40 min after synthesis. There was no evidence for intermolecular disulfide bond formation in aggregates of wild-type hormone or the R183H mutant. Both wild-type and R183H-GH were packaged into secretory granules, assessed by the ability of 1 mM BaCl2 to stimulate release and by immunocytochemistry. The mutant differed from wild-type hormone in its retention in the cells after packaging into secretory granules; 50% more R183H-GH than wild-type aggregates were retained in AtT20 cells 120 min after synthesis, and stimulated release of R183H-GH or a mixture of R183H-GH and wild-type that had been retained in the cell was reduced. The longer retention of R183H-GH aggregates indicates that a single point mutation in a protein contained in secretory granules affects the rate of secretory granule release. PMID:12399418

  10. Iron Deficiency and the Cognitive and Psychomotor Development of Children: A Pilot Study with Institutionalized Children.

    ERIC Educational Resources Information Center

    Driva, A.; And Others

    1985-01-01

    Describes a pilot study, involving 48 institutionalized infants and toddlers, which aimed to treat iron deficiency anemia and to discover other factors contributing to the problem. Results indicate improvement in cognitive development after the administration of iron among three groups, while no significant differences were observed in psychomotor…

  11. Effect of selenium deficiency on hepatic type I 5-iodothyronine deiodinase activity and hepatic thyroid hormone levels in the rat.

    PubMed Central

    Beckett, G J; Russell, A; Nicol, F; Sahu, P; Wolf, C R; Arthur, J R

    1992-01-01

    Selenium deficiency in rats for a period of up to 6 weeks inhibited both the production of 3,3',5-tri-iodothyronine (T3) from thyroxine (T4) (5'-deiodination) and also the catabolism of T3 to 3,3'-di-iodothyronine (5-deiodination) in liver homogenates. The hepatic stores of T3 were decreased by only 8% in selenium deficiency, despite the T3 production rate from T4 being only 7% of the rate found in selenium-supplemented rats. Hepatic glutathione S-transferase (GST) activity was increased in both hypothyroidism and selenium deficiency, but apparently by different mechanisms, since mRNA expression for this family of enzymes was lowered by hypothyroidism and increased in selenium deficiency. It is concluded that, since both T3 production and catabolism are inhibited by selenium deficiency, there is little change in hepatic T3 stores, and therefore the changes in the activity of certain hepatic enzymes, such as GST, that are found in selenium deficiency are not the result of tissue hypothyroidism. Images Fig. 1. PMID:1546962

  12. Severe Iron Deficiency Anemia in Infants and Young Children, Requiring Hospital Admission

    PubMed Central

    Lundblad, Kristin; Rosenberg, Jonathan; Mangurten, Henry; Angst, Denise B.

    2016-01-01

    Objective. This study evaluated patient characteristics, milk intake, and associated lab findings of children 6 months to 5 years old, admitted to a children’s hospital with severe iron-deficiency anemia (IDA). Methods. A chart review was conducted on patients admitted with microcytic anemia (hemoglobin concentration less than 7 g/dL), accompanied by a low serum ferritin and/or low serum iron level between January 2000 and December 2006. Results. A total of 18 children with severe IDA were evaluated. Many had parents with private insurance and jobs. Almost all children drank >24 ounces of milk daily. Hemoglobin on admission was 3.8 g/dL, and the mean of the patients’ mean corpuscular volume was 52.8 fL. Median iron levels were 4 µg/dL. Conclusions. Severe IDA is still prevalent in children, yet physicians may not perform necessary testing. The devastating long-term effects of severe IDA should prompt clinicians to screen for severe IDA in children regardless of absent risk factors. PMID:27335995

  13. Sex Hormones in Allergic Conjunctivitis: Altered Levels of Circulating Androgens and Estrogens in Children and Adolescents with Vernal Keratoconjunctivitis

    PubMed Central

    Sacchetti, Marta; Lambiase, Alessandro; Moretti, Costanzo; Bonini, Stefano

    2015-01-01

    Purpose. Vernal keratoconjunctivitis (VKC) is a chronic allergic disease mainly affecting boys in prepubertal age and usually recovering after puberty. To evaluate a possible role of sex hormones in VKC, serum levels of sex hormones in children and adolescents with VKC were assessed. Methods. 12 prepubertal and 7 early pubertal boys with active VKC and 6 male patients with VKC in remission phase at late pubertal age and 48 healthy age and sex-matched subjects were included. Serum concentration of estrone, 17 beta-estradiol, dehydroepiandrosterone-sulfate, total testosterone and free testosterone, dihydrotestosterone (DHT), cortisol, delta-4-androstenedione, follicle-stimulating hormone, luteinizing hormone, and sex-hormones binding globuline (SHBG) were evaluated. Results. Serum levels of Estrone were significantly increased in all groups of patients with VKC when compared to healthy controls (P < 0.001). Prepubertal and early pubertal VKC showed a significant decrease in DHT (P = 0.007 and P = 0.028, resp.) and SHBG (P = 0.01 and P = 0.002, resp.) when compared to controls and serum levels of SHBG were increased in late pubertal VKC in remission phase (P = 0.007). Conclusions and Relevance. VKC patients have different circulating sex hormone levels in different phases of the disease and when compared to nonallergic subjects. These findings suggest a role played by sex hormones in the pathogenesis and/or activity of VKC. PMID:25756057

  14. Birth characteristics and female sex hormone concentrations during adolescence: results from the Dietary Intervention Study in Children

    PubMed Central

    Hartman, Terryl J.; Rovine, Michael J.; Dorgan, Joanne F.

    2011-01-01

    Background Birth characteristics and adult hormone concentrations influence breast cancer risk, but little is known about the influence of birth characteristics on hormone concentrations, particularly during adolescence. Methods We evaluated the association of birth characteristics (birth weight, birth length, and gestational age) with serum sex hormone concentrations during late childhood and adolescence in 278 female participants of the Dietary Intervention Study in Children. Repeated measures analysis of variance models were used to assess the relationships of birth characteristics and serum estrogens and androgens at five different time points over a mean period of 7 years. Results In analyses that did not take into account time from blood draw until menarche, birth weight was inversely associated with pre-menarche concentrations of estradiol, estrone sulfate, androstenedione, testosterone, and dehydroepiandrosterone sulfate (DHEAS). In the post-menarche analyses, birth weight was not significantly associated with concentration of any of the hormones under investigation. Birth length and gestational age were not associated with hormone concentrations before or after menarche. Conclusion Birth weight is inversely associated with sex hormone concentrations before menarche in the model unadjusted for time from blood draw until menarche. Impact The in utero environment has long-term influences on the hormonal milieu, which could potentially contribute to breast cancer risk. PMID:21327460

  15. Impaired beta-endorphin response to human corticotropin-releasing hormone in obese children.

    PubMed

    Bernasconi, S; Petraglia, F; Iughetti, L; Marcellini, C; Lamborghini, A; Facchinetti, F; Genazzani, A R

    1988-09-01

    In order to evaluate the secretion of beta-endorphin in obese children and adolescents, we measured plasma beta-endorphin, ACTH and cortisol levels before and following administration of CRH (1 microgram/kg). Fourteen normal weight and 22 obese subjects (weight excess ranging from 30 to 98%) were studied. Plasma hormone levels were measured by radioimmunoassay directly in plasma (cortisol, ACTH) and after silicic acid extraction and Sephadex G-75 column chromatography (beta-endorphin). Basal beta-endorphin levels in obese children were significantly higher than in controls (14.7 +/- 1.8 vs 6.0 +/- 0.6 pmol/l; mean +/- SEM). No differences were found in basal ACTH and cortisol levels. CRH administration significantly increased beta-endorphin, ACTH and cortisol levels in normal subjects and ACTH and cortisol levels in obese subjects. Plasma beta-endorphin levels in obese children and adolescents did not show any significant increment. These data confirm the higher than normal beta-endorphin plasma levels in obese subjects in childhood and demonstrate that CRH is unable to increase beta-endorphin levels, suggesting an impairment of the hypothalamo-pituitary control mechanisms or an extra-anterior pituitary source. PMID:2842994

  16. Anti-infective use in children and pregnancy: current deficiencies and future challenges

    PubMed Central

    Gwee, Amanda; Cranswick, Noel

    2015-01-01

    There are a number of challenges to using anti-infective agents in children and pregnant women. There is limited understanding of the altered pharmacokinetics of anti-infectives in these populations and as a result, optimized dosing regimens are yet to be established. The potential adverse effects of the drug on pregnancy outcome and the developing foetus is a major consideration, and the long term implications of drug side effects must be taken into account when drug exposure occurs early in life. These factors hinder research and licensing of new anti-infective drugs in these populations. We describe the current deficiencies and future challenges of anti-infective use in children and pregnant women, providing specific examples. PMID:24588467

  17. Iron deficiency anemia among children: Addressing a global public health problem within a Canadian context.

    PubMed

    Christofides, Anna; Schauer, Claudia; Zlotkin, Stanley H

    2005-12-01

    Despite current Canadian pre- and perinatal nutrition programs, the prevalence of both iron deficiency and iron deficiency anemia (IDA) is very high among young Aboriginal children from Canada's remote north. The major risk factors for IDA include prolonged consumption of evaporated cow's milk, chronic infection and prolonged exclusive breastfeeding. In the present article, the authors discuss IDA as a significant public health problem in Canadian Aboriginal communities. Whereas the prevalence of IDA in Canadian children is between 3.5% and 10.5% in the general population, in two Northern Ontario First Nations communities and one Inuit community, the anemia rate was 36%, with 56% having depleted iron stores. Traditional methods of preventing IDA, including targeted fortification, dietary diversification and supplementation, have not solved the problem. The authors' research group at The Hospital for Sick Children in Toronto, Ontario, conceived of the strategy of 'home fortification' with 'Sprinkles' - single-dose sachets containing micronutrients in a powder form, which are easily sprinkled onto any foods prepared in the household. In Sprinkles, the iron (ferrous fumarate) is encapsulated within a thin lipid layer to prevent the iron from interacting with food. Sprinkles have been shown to be efficacious in the treatment of anemia in many developing countries. Their use in Aboriginal communities to treat and prevent anemia is described in the present paper. The authors believe that children in Aboriginal communities across Canada would potentially benefit if Sprinkles were incorporated into Health Canada's current distribution system, in combination with a social marketing strategy to encourage their use. PMID:19668671

  18. Does zinc deficiency play a role in stunting among primary school children in NE Thailand?

    PubMed

    Gibson, Rosalind S; Manger, Mari Skar; Krittaphol, Woravimol; Pongcharoen, Tippawan; Gowachirapant, Sueppong; Bailey, Karl B; Winichagoon, Pattanee

    2007-01-01

    Stunting in school-age years may result in a decrease in adult size, and thus reduced work capacity and adverse reproductive outcomes. We have compared the mean intakes of energy, protein and selected growth-limiting nutrients in fifty-eight stunted children and 172 non-stunted controls drawn from 567 children aged 6-13 years attending ten rural schools in NE Thailand. Control children were selected randomly after stratifying children by age in each school. Dietary data were calculated from 24-h recalls using nutrient values from Thai food composition data and chemical analysis. Inter-relationships between stunting and sociodemographic, anthropometric and biochemical variables were also examined. Biochemical variables investigated were serum albumin, zinc, ferritin, transferrin receptor and retinol, and iodine in casual urine samples. Significantly more males than females were stunted (males, n 38, 65.5% v. females, n 20. 34.5%: P=0.025). Stunted males had lower mean intakes of energy, protein, calcium, phosphorus and zinc, and a lower mean (95% CI) serum zinc (9.19 (8.53, 9.84) v. 9.70 (8.53, 9.29) micromol/1) than non-stunted males; no other biochemical differences were noted. Stunted males also had a lower mean arm muscle area (P= 0.015), after adjusting for age, than non-stunted males. In conclusion, the lower dietary intakes of the stunted males compared to their non-stunted counterparts may be associated with anorexia and hypogeusia induced by zinc deficiency. Hence, zinc deficiency may be a factor limiting linear growth, especially among boys in NE Thailand, but more research is needed to establish whether other factors also play a role. PMID:17217573

  19. Vitamin D levels in children with severe hemophilia A: an underappreciated deficiency.

    PubMed

    Albayrak, Canan; Albayrak, Davut

    2015-04-01

    Osteoporosis in hemophilic patients is a significant problem. The causes of osteoporosis in hemophilic patients are lack of adequate exercise, multiple hemorrhage and inflammation, and low vitamin D levels. The aim of this study was to retrospectively determine the frequency of vitamin D deficiency and insufficiency in children with severe hemophilia A. Forty-seven children with severe hemophilia were included in the study. None of the patients had previously received vitamin D supplementation. No patient had clinical or radiologic findings of rickets or seropositivity of hepatitis C virus or HIV. The mean age of the patients was 11.64 ± 5.70 (range, 2-18) years. The mean vitamin D level was 16.35 ± 7.49 ng/ml (range, 3.25-33.80). Vitamin D levels were below 10 ng/ml (severe vitamin D deficiency) in 9 cases (19%), between 10 and 19.99 ng/ml (vitamin D deficiency) in 23 cases (49%), between 20 and 29.99 ng/ml (vitamin D insufficiency) in 13 cases (28%), and above 30 ng/ml (normal vitamin D level) in 2 cases (4%). The mean serum levels of 25-hydroxy vitamin D in the children with hemophilia during winter and autumn were significantly lower than that during summer (P = 0.0028 and P = 0.0091, respectively). A majority of our hemophilic patients (96%) had low vitamin D levels. The study showed that the risk of vitamin D deficiency is the most highest during winter and autumn. Normal lifelong vitamin D levels are especially important in hemophilia because of the possible synergistic effect of vitamin D levels on periarticular and general osteoporosis, which is intrinsic to hemophilic conditions. We advise routine checking of vitamin D levels twice a year and vitamin D supplementation to maintain its level between 30 and 100 ng/ml. PMID:25485786

  20. The impact of Vitamin D deficiency on asthma, allergic rhinitis and wheezing in children: An emerging public health problem

    PubMed Central

    Bener, Abdulbari; Ehlayel, Mohammad S.; Bener, Hale Z.; Hamid, Qutayba

    2014-01-01

    Background: Vitamin D deficiency has been declared a public health problem for both adults and children worldwide. Asthma and related allergic diseases are the leading causes of morbidity in children. The objective of this study was to investigate the potential role of Vitamin D deficiency in childhood asthma and other allergic diseases such as allergic rhinitis and wheezing. Materials and Methods: This cross-sectional study was conducted in Primary Health Care Centers (PHCs), from March 2012 to October 2013. A total of 2350 Qatari children below the age of 16 were selected from PHCs, and 1833 agreed to participate in this study giving a response rate of (78%). Face-to-face interviews with parents of all the children were based on a questionnaire that included variables such as socio-demographic information, assessment of nondietary covariates, Vitamin D intake, type of feeding, and laboratory investigations. Their health status was assessed by serum Vitamin D (25-hydoxyvitamin D), family history and body mass index. Results: Most of the children who had asthma (38.5%), allergic rhinitis (34.8%) and wheezing (35.7%) were below 5 years. Consanguinity was significantly higher in parents of children with allergic rhinitis (48.6%), followed by those with asthma (46.4%) and wheezing (40.8%) than in healthy children (35.9%) (P < 0.001). The proportion of severe Vitamin D deficiency was significantly higher in children with wheezing (23.4%), allergic rhinitis (18.5%), and asthma (17%) than in healthy children (10.5%). Exposure to the sun was significantly less in Vitamin D deficient children with asthma (60.3%), allergic rhinitis (62.5%) and wheezing (64.4%) than in controls (47.1%) (P = 0.008). It was found that Vitamin D deficiency was a significant correlate for asthma (odds ratio [OR] =2.31; P < 0.001), allergic rhinitis (OR = 1.59; P < 0.001) and wheezing (relative risk = 1.29; P = 0.05). Conclusion: The study findings revealed a high prevalence of Vitamin D

  1. Prevalence and correlates of 25-hydroxyvitamin D deficiency in the Chronic Kidney Disease in Children (CKiD) cohort

    PubMed Central

    McDermott, Kelly; Abraham, Alison G.; Friedman, Lisa Aronson; Johnson, Valerie L.; Kaskel, Frederick J.; Furth, Susan L.; Warady, Bradley A.; Portale, Anthony A.; Melamed, Michal L.

    2016-01-01

    Background Vitamin D plays an important role in the mineral and bone disorder seen in chronic kidney disease (CKD). Deficiency of 25-hydroxyvitamin D (25OHD) is highly prevalent in the adult CKD population. Methods The prevalence and determinants of 25OHD deficiency (defined as a level <20 ng/ml) were examined longitudinally in 506 children in the CKiD cohort. Predictors of secondary hyperparathyroidism and the determinants of 1,25-dihydroxyvitamin D (1,25(OH)2D) levels were also evaluated. Results Deficiency of 25OHD was observed in 28 % of the cohort at enrollment. Significant predictors of 25OHD deficiency were older age, non-white race, higher body mass index, assessment during winter, less often than daily milk intake, non-use of nutritional vitamin D supplement and proteinuria. Lower values of glomerular filtration rate (GFR), serum 25OHD, calcium and higher levels of FGF23 were significant determinants of secondary hyperparathyroidism. Lower GFR, low serum 25OHD, nephrotic-range proteinuria, and high FGF23 levels were significant determinants of serum 1, 25(OH)2 D levels. Conclusions Deficiency of 25OHD is prevalent in children with CKD and is associated with potentially modifiable risk factors such as milk intake, nutritional vitamin D supplement use, and proteinuria. 25OHD deficiency is a risk factor for secondary hyperparathyroidism and decreased serum 1, 25(OH)2D in children with CKD. PMID:26307635

  2. THE EFFECTS OF DIETARY VITAMIN E AND SELENIUM DEFICIENCIES ON PLASMA THYROID AND THYMIC HORMONE CONCENTRATIONS IN THE CHICKEN

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Beginning at hatching, male Cornell K strain single comb white leghorn chickens were fed a basal diet, with or without vitamin E (100 IU/kg) and/or selenium (Se, 0.2 ppm). After 3 weeks of treatment, animals fed either the Se-deficient or basal diet had significantly reduced plasma Se-dependent glut...

  3. The High Prevalence of Anemia in Cambodian Children and Women Cannot Be Satisfactorily Explained by Nutritional Deficiencies or Hemoglobin Disorders

    PubMed Central

    Wieringa, Frank Tammo; Dahl, Miriam; Chamnan, Chhoun; Poirot, Etienne; Kuong, Khov; Sophonneary, Prak; Sinuon, Muth; Greuffeille, Valerie; Hong, Rathavuth; Berger, Jacques; Dijkhuizen, Marjoleine Amma; Laillou, Arnaud

    2016-01-01

    Background: Anemia is highly prevalent in Cambodian women and children, but data on causes of anemia are scarce. We performed a national micronutrient survey in children and women that was linked to the Cambodian Demographic Health Survey 2014 (CDHS-2014) to assess the prevalence of micronutrient deficiency, hemoglobin disorders and intestinal parasite infection. Methods: One-sixth of households from the CDHS-2014 were selected for a follow-up visit for the micronutrient survey. Households were visited from two weeks to two months after the CDHS-2014 visit. Data on micronutrient status were available for 1512 subjects (792 children and 720 women). Results: Anemia was found in 43% of the women and 53% of the children. Hemoglobin disorders affected >50% of the population, with Hemoglobin-E the most prevalent disorder. Deficiencies of iron (ferritin < 15 g/L), vitamin A (retinol-binding-protein (RBP) < 0.70 mol/L) or vitamin B12 (<150 pmol/L) were not prevalent in the women (<5% for all), whereas 17.8% of the women had low concentrations of folic acid (<10 nmol/L). In the children, the prevalence of iron, vitamin A, vitamin B12 or folic acid deficiency was <10%. Zinc deficiency, hookworm infection and hemoglobinopathy were significantly associated with anemia in children, whereas in the women none of the factors was significantly associated with anemia. Iron deficiency anemia (IDA) was more prevalent in children <2 years, but in older children and women, the prevalence of IDA was <5%. The most prevalent, preventable causes of anemia were hookworm infection and zinc and folic acid deficiency. Over 40% of the anemia was not caused by nutritional factors. Conclusion: The very high prevalence of anemia in Cambodian women and children cannot be explained solely by micronutrient deficiencies and hemoglobin disorders. Micronutrient interventions to improve anemia prevalence are likely to have limited impact in the Cambodian setting. The focus of current interventions to

  4. Ablation of neurons expressing agouti-related protein, but not melanin concentrating hormone, in leptin-deficient mice restores metabolic functions and fertility

    PubMed Central

    Wu, Qi; Whiddon, Benjamin B.; Palmiter, Richard D.

    2012-01-01

    Leptin-deficient (Lepob/ob) mice are obese, diabetic, and infertile. Ablation of neurons that make agouti-related protein (AgRP) in moderately obese adult Lepob/ob mice caused severe anorexia. The mice stopped eating for 2 wk and then gradually recovered. Their body weight fell to within a normal range for WT mice, at which point food intake and glucose tolerance were restored to that of WT mice. Remarkably, both male and female Lepob/ob mice became fertile. Ablation of neurons that express melanin-concentrating hormone (MCH) in adult Lepob/ob mice had no effect on food intake, body weight, or fertility, but resulted in improved glucose tolerance. We conclude that AgRP-expressing neurons play a critical role in mediating the metabolic syndrome and infertility of Lepob/ob mice, whereas MCH-expressing neurons have only a minor role. PMID:22232663

  5. Predominance of Giardia lamblia assemblage A among iron deficiency anaemic pre-school Egyptian children.

    PubMed

    Hussein, Eman M; Zaki, Wafaa M; Ahmed, Shahira A; Almatary, Amal M; Nemr, Nader I; Hussein, Abdalla M

    2016-04-01

    Intestinal parasites and nutritional deficiency can coexist and influence each other. This study aimed to clarify the association between Giardia genotypes and presence of iron deficiency anaemia (IDA) among pre-school Egyptian children. Two groups (IDA and non-anaemic) of giardiasis children (44/group) were selected according to their recovery response after treatment of giardiasis. Each group included 24 and 20 gastrointestinal symptomatic and asymptomatic, respectively. Giardia human genotypes were performed by intergenic spacer (IGS) gene based polymerase chain reaction (PCR) with high-resolution melting curve (HRM). PCR/HRM proved that Tms of assemblage A and B ranged from 79.31 ± 0.29 to 84.77 ± 0.31. In IDA patients, assemblages A and B were found among 40/44 (90.9 %) and 4/44 (9.1 %), respectively, while in non-anaemic patients, assemblages A and B were found in 10/44 (22.7 %) and 32/44 (72.7 %), respectively, beside two (4.6 %) cases had mixed infection. The difference was statistically significant. No significant relation was found between symptomatic or asymptomatic assemblages and IDA as assemblage A was found in 21/24 (87.5 %) and 19/20 (95 %) of symptomatic and asymptomatic, respectively, while 3/24 (12.5 %) and 1/20 (5 %) of assemblage B were symptomatic was asymptomatic, respectively. A significant relation was found between assemblage A subtypes distribution among IDA patients as AI and AII were detected on 23 (52.3 %) and 16 (36.4 %) of patients, respectively, while one case (2.3 %) had mixed infection. In conclusion, assemblage A is predominant among IDA giardiasis children suggesting its role in enhancing the occurrence of IDA while B has a protective role. PMID:26758448

  6. Growth hormone treatment of adolescents with growth hormone deficiency (GHD) during the transition period: results of a survey among adult and paediatric endocrinologists from Italy. Endorsed by SIEDP/ISPED, AME, SIE, SIMA.

    PubMed

    Aimaretti, G; Attanasio, R; Cannavò, S; Nicoletti, M C; Castello, R; Di Somma, C; Garofalo, P; Iughetti, L; Loche, S; Maghnie, M; Mazzanti, L; Saggese, G; Salerno, M; Tonini, G; Toscano, V; Zucchini, S; Cappa, M

    2015-03-01

    Treatment of adolescents with growth hormone deficiency (GHD) during the transition period is a controversial issue. This paper is a contribution from the Italian community of paediatric and adult endocrinologists surveyed in a Delphi panel. The Delphi method is a structured communication technique, originally developed as a systematic, interactive forecasting method that relies on a panel of experts. The experts answer questionnaires in two or more rounds. There was substantial agreement on the definition of the problems associated with the diagnosis and treatment of adolescents with GHD in the transition period, as well as on the identification of the controversial issues which need further studies. There is general consensus on the need of re-testing all isolated idiopathic GHD after at least 30-day withdrawn from treatment, while in patients with multiple pituitary deficiency and low IGF-I levels there is generally no need to re-test. In patients with permanent or confirmed GHD, a starting low rhGH dose (0.01-0.03 mg per day) to be adjusted according to IGF-I concentrations is also widely accepted. For those continuing treatment, the optimal therapeutic schedule to obtain full somatic maturation, normalization of body composition and bone density, cardiovascular function and Quality of Life, need to be evaluated. PMID:25362629

  7. Mild riboflavin deficiency is highly prevalent in school-age children but does not increase risk for anaemia in Côte d'Ivoire.

    PubMed

    Rohner, Fabian; Zimmermann, Michael B; Wegmueller, Rita; Tschannen, Andreas B; Hurrell, Richard F

    2007-05-01

    There are few data on the prevalence of riboflavin deficiency in sub-Saharan Africa, and it remains unclear whether riboflavin status influences the risk for anaemia. The aims of this study were to: (1) measure the prevalence of riboflavin deficiency in children in south-central Côte d'Ivoire; (2) estimate the riboflavin content of the local diet; and (3) determine if riboflavin deficiency predicts anaemia and/or iron deficiency. In 5- to 15-year-old children (n 281), height, weight, haemoglobin (Hb), whole blood zinc protoporphyrin (ZPP), erythrocyte glutathione reductase activity coefficient (EGRAC), serum retinol, C-reactive protein (CRP) and prevalence of Plasmodium spp. (asymptomatic malaria) and Schistosoma haematobium (bilharziosis) infections were measured. Three-day weighed food records were kept in twenty-four households. Prevalence of anaemia in the sample was 52%; 59% were iron-deficient based on an elevated ZPP concentration, and 36% suffered from iron deficiency anaemia. Plasmodium parasitaemia was found in 49% of the children. Nineteen percent of the children were infected with S. haematobium. Median riboflavin intake in 5- to 15-year-old children from the food records was 0.42 mg/d, approximately 47% of the estimated average requirement for this age group. Prevalence of riboflavin deficiency was 65%, as defined by an EGRAC value > 1.2. Age, elevated CRP and iron deficiency were significant predictors of Hb. Riboflavin-deficient children free of malaria were more likely to be iron deficient (odds ratio; 3.07; 95% CI 1.12, 8.41). In conclusion, nearly two-thirds of school-age children in south-central Côte d'Ivoire are mildly riboflavin deficient. Riboflavin deficiency did not predict Hb and/or anaemia, but did predict iron deficiency among children free of malaria. PMID:17381972

  8. THE EFFECTS OF METHIONINE DEFICIENCIES ON PLASMA LEVELS OF THYROID HORMONES, INSULIN-LIKE GROWTH FACTORS I AND II, LIVER AND BODY WEIGHTS, AND FEED INTAKE IN GROWING CHICKENS

    Technology Transfer Automated Retrieval System (TEKTRAN)

    A deficiency of methionine (Met) at 0.25% of the diet, or 50% of the National Research Council's recommended level, has been reported to cause elevations in plasma triiodothyronine (T3) in growing broiler chickens. In the present study, plasma levels of thyroid hormones as well as insulin-like grow...

  9. Oxytocin and vasopressin hormone genes in children's externalizing problems: A cognitive endophenotype approach.

    PubMed

    Wade, Mark; Hoffmann, Thomas J; Knafo-Noam, Ariel; O'Connor, Thomas G; Jenkins, Jennifer M

    2016-06-01

    Externalizing problems are among the most common mental health problems of children. Research suggests that these problems are heritable, yet little is known about the specific genes involved in their pathophysiology. The current study examined a genotype-endophenotype-phenotype model of externalizing problems in 320 preschool-aged children. Markers of the oxytocin (OXT) and arginine vasopressin (AVP) hormone genes were selected as candidates owing to their known association with psychopathology in other domains. We tested whether OXT and AVP variants were related to children's externalizing problems, as well as two cognitive endophenotypes presumed to underlie these problems: theory of mind (ToM) and executive functioning (EF). Externalizing problems were assessed at age 4.5 using a previously-validated rating scale. ToM and EF were measured with age-appropriate tasks. Using a family-based association design and controlling for non-genomic confounds, support was found for an association between a two-marker OXT haplotype (rs2740210-rs2770378) and a two-marker AVP haplotype (rs1887854-rs3761249) and externalizing problems. Specific associations of these haplotypes with ToM and EF were also observed. Further, ToM and EF were shown to independently and jointly predict externalizing problems, and to partially mediate the effects of OXT and AVP on externalizing problems. This study provides the first evidence that genetic variation in OXT and AVP may contribute to individual differences in childhood externalizing problems, and that these effects may operate through emerging neurocognitive abilities in the preschool period. PMID:27155104

  10. Efficacy of Short-Term Growth Hormone Treatment in Prepubertal Children with Idiopathic Short Stature

    PubMed Central

    Kim, Ho-Seong; Yang, Sei Won; Yoo, Han-Wook; Suh, Byung Kyu; Ko, Cheol Woo; Chung, Woo Yeong; Lee, Kee Hyoung; Hwang, Jin Soon; Ji, Hyi-Jeong; Ahn, Hyunji

    2014-01-01

    Purpose It has been reported that daily recombinant human growth hormone (GH) treatment showed beneficial effects on growth in prepubertal children with idiopathic short stature (ISS). The present study aimed to validate the GH (Eutropin®) effect on growth promotion and safety after short-term GH treatment. Materials and Methods This study was an open-label, multicenter, interventional study conducted at nine university hospitals in Korea between 2008 and 2009. Thirty six prepubertal children with ISS were enrolled in this study to receive 6-month GH treatment. Yearly growth rate, height standard deviation score (SDS), and adverse events were investigated during treatment. Results After 26 weeks of GH treatment, the height velocity significantly increased by 6.36±3.36 cm/year (p<0.001). The lower end of one-sided 95% confidence interval was 5.22 cm/year, far greater than the predefined effect size. The gain in height SDS at week 26 was 0.57±0.27 (p<0.0001). Bone age significantly increased after GH treatment, however, bone maturation rate (bone age for chronological age) showed limited advancement. This 26-week GH treatment was effective in increasing serum levels of insulin-like growth factor (IGF)-I and IGF binding protein (IGFBP)-3 from baseline (p<0.0001). Eutropin was well tolerated and there were no withdrawals due to adverse events. No clinically significant changes in laboratory values were observed. Conclusion This 6-month daily GH treatment in children with ISS demonstrated increased height velocity, improved height SDS, and increased IGF-I and IGFBP-3 levels with a favorable safety profile. PMID:24339287

  11. Social Costs of Iron Deficiency Anemia in 6–59-Month-Old Children in India

    PubMed Central

    Plessow, Rafael; Arora, Narendra Kumar; Brunner, Beatrice; Tzogiou, Christina; Eichler, Klaus; Brügger, Urs; Wieser, Simon

    2015-01-01

    Introduction Inadequate nutrition has a severe impact on health in India. According to the WHO, iron deficiency is the single most important nutritional risk factor in India, accounting for more than 3% of all disability-adjusted life years (DALYs) lost. We estimate the social costs of iron deficiency anemia (IDA) in 6–59-month-old children in India in terms of intangible costs and production losses. Materials and Methods We build a health economic model estimating the life-time costs of a birth cohort suffering from IDA between the ages of 6 and 59 months. The model is stratified by 2 age groups (6–23 and 24–59-months), 2 geographical areas (urban and rural), 10 socio-economic strata and 3 degrees of severity of IDA (mild, moderate and severe). Prevalence of anemia is calculated with the last available National Family Health Survey. Information on the health consequences of IDA is extracted from the literature. Results IDA prevalence is 49.5% in 6–23-month-old and 39.9% in 24–58-month-old children. Children living in poor households in rural areas are particularly affected but prevalence is high even in wealthy urban households. The estimated yearly costs of IDA in 6–59-month-old children amount to intangible costs of 8.3 m DALYs and production losses of 24,001 m USD, equal to 1.3% of gross domestic product. Previous calculations have considerably underestimated the intangible costs of IDA as the improved WHO methodology leads to a threefold increase of DALYs due to IDA. Conclusion Despite years of iron supplementation programs and substantial economic growth, IDA remains a crucial public health issue in India and an obstacle to the economic advancement of the poor. Young children are especially vulnerable due to the irreversible effects of IDA on cognitive development. Our research may contribute to the design of new effective interventions aiming to reduce IDA in early childhood. PMID:26313356

  12. Effect of sex and gonadal hormones on rat plasma lipids during the development of an essential fatty acid deficiency

    PubMed Central

    Lyman, R. L.; Ostwald, Rosemarie; Bouchard, Pauline; Shannon, Angela

    1966-01-01

    1. Male, female and castrated rats treated with oestradiol (30μg./week) or testosterone (2mg./week) were given an essential fatty acid-deficient diet containing 10% of hydrogenated coconut oil for 9 weeks. The concentrations and fatty acid composition of plasma phospholipids, cholesteryl esters and triglycerides were determined. 2. Between the second and third weeks of the deficiency, concentrations of plasma cholesteryl esters, phospholipids and triglycerides decreased, then remained relatively constant. There were no significant differences between males and females, but oestradiol caused a significant rise in plasma phospholipids and triglycerides as compared with testosterone-treated animals. 3. During the first 2 weeks of the deficiency, linoleic acid in the plasma lipids of all groups decreased to low concentrations and changed very little thereafter. 4. Female rats maintained higher percentages and concentrations of arachidonic acid and stearic acid in plasma phospholipids and arachidonic acid in cholesteryl esters than did males. Males had higher proportions of eicosatrienoic acid and oleic acid. There was no sex difference in the fatty acid composition of plasma triglycerides. 5. Oestradiol-treated rats had concentrations of cholesteryl and phospholipid arachidonate comparable with those of female rats and higher than the testosterone-treated group. Eicosatrienoic acid in the oestradiol–treated rats was high and resembled that of the male rats, apparently because of the higher concentration of plasma phospho lipids in this group. 6. Supplementation of the essential fatty acid-deficient rats with linoleate restored plasma cholesteryl and phospholipid linoleate and arachidonate nearly to normal concentrations in a single day. The increase in arachidonic acid in these fractions was accompanied by a similar quantitative decrease in eicosatrienoic acid. 7. These sex differences appear to be related to the smaller size of the female rat and to a more direct

  13. Intraoperative Parathyroid Hormone Monitoring Corroborates the Success of Parathyroidectomy in Children

    PubMed Central

    Çelik, Ahmet; Divarcı, Emre; Dökümcü, Zafer; Ergün, Orkan; Özen, Samim; Gökşen, Damla; Darcan, Şükran; Ertan, Yeşim

    2014-01-01

    Ob­jec­ti­ve: To assess the efficacy of intraoperative parathyroid hormone (PTH) monitoring in evaluating the outcome of parathyroidectomy in pediatric patients. Methods: Intraoperative PTH monitoring during parathyroidectomy was performed in five children (3M, 2F); three had parathyroid adenomas (single gland disease) and two had primary hyperplasia. One patient had undergone two previous surgical interventions to remove the parathyroid glands, but the PTH levels had remained high with persistence of symptoms. Immunoradiometric analysis was used for PTH measurements. Preoperative PTH values were obtained to monitor the baseline levels. Serum samples were collected 20 minutes after removal of the adenoma/parathyroid gland(s) and PTH levels were compared with preoperative values. Specimens were also confirmed by frozen sectional examination. Results: Mean age of the patients was 11 years (range: 3 months-16 years). Mean preoperative PTH values were 633.3±579 pg/mL (range: 143-1300 pg/mL). Intraoperative values decreased to 18.7±5.5 pg/mL (range: 8-27 pg/mL) following removal of the gland(s). Normal calcium levels were achieved with adequate management following surgery. One patient (with multiple surgeries and found to have an ectopic parathyroid gland) had hungry bone syndrome after the operation and was treated successfully. There were no major complications. All patients maintained normal calcium/phosphorus levels in the follow-up period, ranging from 2 to 5 years. Conclusion: An ectopic parathyroid gland or another undetected adenoma can be overlooked during surgery. Owing to the short life of the hormone, intraoperative PTH monitoring to determine PTH clearance proved to be a feasible marker for adequacy and safety of surgery and “cure”. PMID:25241609

  14. Markers of Bone Metabolism Are Affected by Renal Function and Growth Hormone Therapy in Children with Chronic Kidney Disease

    PubMed Central

    Doyon, Anke; Fischer, Dagmar-Christiane; Bayazit, Aysun Karabay; Canpolat, Nur; Duzova, Ali; Sözeri, Betül; Bacchetta, Justine; Balat, Ayse; Büscher, Anja; Candan, Cengiz; Cakar, Nilgun; Donmez, Osman; Dusek, Jiri; Heckel, Martina; Klaus, Günter; Mir, Sevgi; Özcelik, Gül; Sever, Lale; Shroff, Rukshana; Vidal, Enrico; Wühl, Elke; Gondan, Matthias; Melk, Anette; Querfeld, Uwe; Haffner, Dieter; Schaefer, Franz

    2015-01-01

    Objectives The extent and relevance of altered bone metabolism for statural growth in children with chronic kidney disease is controversial. We analyzed the impact of renal dysfunction and recombinant growth hormone therapy on a panel of serum markers of bone metabolism in a large pediatric chronic kidney disease cohort. Methods Bone alkaline phosphatase (BAP), tartrate-resistant acid phosphatase 5b (TRAP5b), sclerostin and C-terminal FGF-23 (cFGF23) normalized for age and sex were analyzed in 556 children aged 6–18 years with an estimated glomerular filtration rate (eGFR) of 10–60 ml/min/1.73m2. 41 children receiving recombinant growth hormone therapy were compared to an untreated matched control group. Results Standardized levels of BAP, TRAP5b and cFGF-23 were increased whereas sclerostin was reduced. BAP was correlated positively and cFGF-23 inversely with eGFR. Intact serum parathormone was an independent positive predictor of BAP and TRAP5b and negatively associated with sclerostin. BAP and TRAP5B were negatively affected by increased C-reactive protein levels. In children receiving recombinant growth hormone, BAP was higher and TRAP5b lower than in untreated controls. Sclerostin levels were in the normal range and higher than in untreated controls. Serum sclerostin and cFGF-23 independently predicted height standard deviation score, and BAP and TRAP5b the prospective change in height standard deviation score. Conclusion Markers of bone metabolism indicate a high-bone turnover state in children with chronic kidney disease. Growth hormone induces an osteoanabolic pattern and normalizes osteocyte activity. The osteocyte markers cFGF23 and sclerostin are associated with standardized height, and the markers of bone turnover predict height velocity. PMID:25659076

  15. Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

    PubMed

    Jamsheer, Aleksander; Olech, Ewelina M; Kozłowski, Kazimierz; Niedziela, Marek; Sowińska-Seidler, Anna; Obara-Moszyńska, Monika; Latos-Bieleńska, Anna; Karczewski, Marek; Zemojtel, Tomasz

    2016-07-01

    Desbuquois dysplasia type 2 (DBQD2) is a rare recessively inherited skeletal genetic disorder characterized by severe prenatal and postnatal growth retardation, generalized joint laxity with dislocation of large joints and facial dysmorphism. The condition was recently described to result from autosomal recessive mutations in XYLT1, encoding the enzyme xylosyltransferase-1. In this paper, we report on a Polish patient with DBQD2 who presented with severe short stature of prenatal onset, joint laxity, psychomotor retardation and multiple radiological abnormalities including short metacarpals, advanced bone age and exaggerated trochanters. Endocrinological examinations revealed that sleep-induced growth hormone (GH) release and GH peak in clonidine- and glucagon-induced provocative tests as well as insulin-like growth factor 1 (IGF-1) and IGF-binding protein-3 levels were all markedly decreased, confirming deficiency of GH secretion. Bone age, unlikely to GH deficiency, was significantly advanced. To establish the diagnosis at a molecular level, we performed whole-exome sequencing and bioinformatic analysis in the index patient, which revealed compound heterozygous XYLT1 mutations: c.595C>T(p.Gln199*) and c.1651C>T(p.Arg551Cys), both of which are novel. Sanger sequencing showed that the former mutation was inherited from the healthy mother, whereas the latter one most probably occurred de novo. Our study describes the first case of DBQD2 resulting from compound heterozygous XYLT1 mutation, expands the mutational spectrum of the disease and provides evidence that the severe growth retardation and microsomia observed in DBQD2 patients may result not only from the skeletal dysplasia itself but also from GH and IGF-1 deficiency. PMID:27030147

  16. Growth Hormone Response to L-Dopa and Clonidine in Autistic Children.

    ERIC Educational Resources Information Center

    Realmuto, George M.; And Others

    1990-01-01

    Seven medication-free autistic subjects (ages 6-19) were administered clonidine and L-Dopa to investigate neuroendocrine responses through changes in growth hormone levels. Findings showed that, compared to normal controls, the L-Dopa-stimulated growth hormone peak was delayed and the clonidine growth hormone peak was premature. (Author/JDD)

  17. Preschool-Aged Children with Iron Deficiency Anemia Show Altered Affect and Behavior1,2

    PubMed Central

    Lozoff, Betsy; Corapci, Feyza; Burden, Matthew J.; Kaciroti, Niko; Angulo-Barroso, Rosa; Sazawal, Sunil; Black, Maureen

    2012-01-01

    This study compared social looking and response to novelty in preschool-aged children (47–68 mo) with or without iron deficiency anemia (IDA). Iron status of the participants from a low-income community in New Delhi, India, was based on venous hemoglobin, mean corpuscular volume, and red cell distribution width. Children’s social looking toward adults, affect, and wary or hesitant behavior in response to novelty were assessed in a semistructured paradigm during an in-home play observation. Affect and behavior were compared as a function of iron status: IDA (n = 74) vs. nonanemic (n = 164). Compared with nonanemic preschoolers, preschoolers with IDA displayed less social looking toward their mothers, moved close to their mothers more quickly, and were slower to display positive affect and touch novel toys for the first time. These results indicate that IDA in the preschool period has affective and behavioral effects similar to those reported for IDA in infancy. PMID:17311960

  18. Selling Sprinkles micronutrient powder reduces anemia, iron deficiency, and vitamin A deficiency in young children in Western Kenya: a cluster-randomized controlled trial2, 3

    PubMed Central

    Suchdev, Parminder S; Ruth, Laird J; Woodruff, Bradley A; Mbakaya, Charles; Mandava, Usha; Flores-Ayala, Rafael; Jefferds, Maria Elena D; Quick, Robert

    2015-01-01

    Background Although the efficacy of micronutrient powders [MNPs; eg, Sprinkles MNP (Sprinkles Global Health Initiative)] in the reduction of anemia has been established, the effectiveness of these powders in real-world programs has seldom been assessed. Objective In this study, we evaluated the effect of community-based marketing and distribution of Sprinkles MNP on childhood rates of anemia and iron and vitamin A deficiency. Design In a cluster-randomized trial in children aged 6–35 mo in Western Kenya, 60 villages were randomly assigned to either intervention or control groups. Community vendors marketed and sold sachets of Sprinkles MNP in intervention villages. Biweekly household visits monitored the use of Sprinkles MNP. Hemoglobin, ferritin, retinol binding protein, malaria, and anthropometric measures were assessed at baseline (n = 1063) and 12 mo of follow-up (n = 862). Data were analyzed by using an intention-to-treat analysis and generalized linear mixed models. Results On average, 33% of households in intervention villages purchased Sprinkles MNP; the average weekly intake per child was 0.9 sachets (~11.3 mg Fe and ~328 μg vitamin A). Compared with control subjects, intervention children had greater improvements in hemoglobin concentrations (increase of 0.9 compared with 0.6 g/dL, respectively; P = 0.02), iron deficiency (decrease of 19.3% compared with 5.3%, respectively; P = 0.001), and vitamin A deficiency (decrease of 7.5% compared with an increase 2.5% increase, respectively; P = 0.01). Results adjusted for age, sex, socioeconomic status, and maternal education showed a significant association between the hemoglobin, iron, and vitamin A concentrations of children and the number of Sprinkles MNP sachets the children consumed. The prevalence of malaria, wasting, and stunting did not change significantly in either group. Conclusion Even with relatively low and infrequent use, Sprinkles MNP sales through community vendors were associated with

  19. Increment in vitamin D level and bone mineral accrual in children with vitamin D deficiency

    PubMed Central

    Midha, Tanu; Singh, Satyajeet; Bajpai, Anurag; Tilak, Amita

    2016-01-01

    Purpose To compare different regimens of vitamin D with respect to its serum increment levels and bone mineral accrual in vitamin D-deficient children. Methods Children identified as being vitamin D deficient (serum levels<20 ng/mL) were divided into 3 treatment groups by stratified block randomization (group 1, 4,000 IU/day of vitamin D3 plus 50 mg/kg/day calcium for 12 weeks; group 2, 30,000 IU/wk of vitamin D3 plus 50 mg/kg/day calcium for 12 weeks; and group 3, 300,000 IU of vitamin D3 once intramuscularly plus 50 mg/kg/day calcium). After regimen completion, each child received a maintenance dose of 400 IU/day vitamin D3 plus 50 mg/kg/day calcium. Their serum vitamin D level was measured after 3 and 12 months. Total body less head bone mineral concentration (BMC) and total body less head bone mineral density (BMD) were measured after 12 months. Results The mean increment in serum vitamin D levels from baseline to 3 months was significantly higher in group 3 than in groups 1 and 2, but the levels from 3 to 12 months were almost similar among all 3 groups. There were no significant differences among the 3 groups with respect to percentage increase of BMD and BMC. Conclusion The injectable form of vitamin D was more efficacious than the oral forms in increasing the serum level to the normal range. All 3 regimens were equally effective in increasing the BMC and BMD. The 400 IU/day maintenance dose was sufficient to keep the serum level within the normal range. PMID:27588029

  20. Anemia, micronutrient deficiencies, and malaria in children and women in Sierra Leone prior to the Ebola outbreak

    Technology Transfer Automated Retrieval System (TEKTRAN)

    To identify the factors associated with anemia and to document the severity of micronutrient deficiencies, malaria and inflammation, a nationally representative cross-sectional survey was conducted. A three-stage sampling procedure was used to randomly select children <5 years of age and adult women...

  1. A survey of children affected by ectomermal dysplasia syndromes shows an increased prevalence of atopic disorders and immune deficiency

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Ectodermal dysplasia (ED) syndromes are rare genetic disorders that affect the development of tissues derived from the embryonic ectoderm. Studies and anecdotal experience have indicated that atopic disorders (AD) and immune deficiencies (ID) may be associated with ED in children. Some ED genotypes ...

  2. Iodine deficiency in Belarusian children as a possible factor stimulating the irradiation of the thyroid gland during the Chernobyl catastrophe.

    PubMed Central

    Gembicki, M; Stozharov, A N; Arinchin, A N; Moschik, K V; Petrenko, S; Khmara, I M; Baverstock, K F

    1997-01-01

    Ten years after the Chernobyl nuclear plant catastrophe more than 500 children in Belarus are suffering from thyroid cancer. The major cause of the high incidence of thyroid cancer in children under 15 years of age appears to be contamination resulting from that catastrophe, mainly with isotopes of radioactive iodine. Another important factor may be iodine deficiency in the environment. A countrywide program for investigation of goiter prevalence and iodine deficiency has been established in the Republic of Belarus with the assistance of the European World Health Organization office. The program will oversee the examination of 11,000 children and adolescents 6 to 18 years of age from 30 schools in urban and rural areas. The results obtained in a group of 824 children and adolescents (the pilot phase) are typical for significant iodine deficiency and moderate goiter endemism. It is clear that the present situation does not completely reflect the situation that existed at the time of the Chernobyl catastrophe. However, data from epidemiologic studies conducted many years before the accident showed high goiter prevalence in the contaminated areas, indicating that the prevalence of iodine deficiency at the time of the catastrophe was similar to the present one or even greater. Such an assumption could lead to a better understanding of the thyroid pathologies that have been observed. PMID:9467069

  3. Urinary Kidney Injury Molecules in Children with Iron-Deficiency Anemia

    PubMed Central

    Güneş, Ali; Ece, Aydın; Aktar, Fesih; Tan, İlhan; Söker, Murat; Karabel, Duran; Balık, Hasan; Uluca, Ünal; Şen, Velat; Yolbaş, İlyas

    2015-01-01

    Background The aim of this study was to investigate the urine levels of human kidney injury molecule-1 (KIM-1), neutrophil gelatinase-associated lipocalin (NGAL), N-acetyl-β-D-glucosaminidase (NAG), and liver-type fatty acid-binding protein (L-FABP) in children with iron-deficiency anemia (IDA). Material/Methods Thirty-five children with IDA and 32 matched healthy controls were recruited. We assessed complete blood count, serum iron, iron-binding capacity, ferritin, serum levels of urea, creatinine (Cr), sodium (Na), potassium (K), calcium (Ca), and glucose levels. Estimated glomerular filtration rate (eGFR) was calculated. Urinary NAG, NGAL, KIM-1, and L-FABP were measured and divided by urine creatinine for comparisons. Results There were no significant differences in serum urea, Cr, or eGFR between the IDA group and the control group (p>0.05, for all). IDA patients had significantly higher urine NGAL/Cr, L-FABP/Cr, KIM-1/Cr, and NAG/Cr compared with the control group (p<0.05). There were significant negative correlations between hemoglobin, hematocrit, red blood cell count, and urine NGAL/Cr, NAG/Cr, L-FABP/Cr, KIM-1/Cr levels (p<0.05). Conclusions Higher urinary kidney injury molecule levels in IDA patients suggest a possible subclinical renal injury in pediatric IDA patients whose renal functions and serum electrolytes were normal. PMID:26697893

  4. A LONGER INTERVAL WITHOUT GROWTH HORMONE REPLACEMENT AND FEMALE GENDER ARE ASSOCIATED WITH LOWER BONE MINERAL DENSITY IN ADULTS WITH CHILDHOOD ONSET GROWTH HORMONE DEFICIENCY - A KIMS DATABASE ANALYSIS

    PubMed Central

    Tritos, Nicholas A; Hamrahian, Amir H; King, Donna; Greenspan, Susan L; Cook, David M; Jönsson, Peter J; Wajnrajch, Michael P; Koltowska – Häggstrom, Maria; Biller, Beverly MK

    2016-01-01

    Objective Childhood onset growth hormone deficiency (COGHD) is associated with low bone mineral density (BMD). Adults with persistent COGHD may be at risk for insufficient bone accrual or bone loss during adulthood. The purpose of this study was to identify BMD predictors and characterize the effects of GH replacement on BMD in COGHD adults with persistent GHD. Design Retrospective analysis of the KIMS database. Methods Variables predicting standardized BMD (sBMD) were identified. The effect of GH replacement (3 years) on BMD was examined. Results 314 COGHD adults (148 women, 166 men; 62 non-naïve, 178 semi-naïve, and 74 true naïve, depending on length and timing of previous GH replacement), who had BMD measured in lumbar spine (LS) and femoral neck (FN) at study entry. In semi-naïve subjects, a longer gap in GH replacement between childhood and adulthood was predictive of lower sBMD in the FN (r= −0.18, P=0.038). Thyrotropin deficiency predicted lower sBMD in the LS (r= −0.16,P=0.052). In true naïve patients, a longer gap between onset of pituitary disease and study entry (r= −0.35,P=0.012) and female gender (r= −0.27,P=0.043) independently predicted lower sBMD in the FN. There were no differences in BMD increases between non-naïve, semi-naïve and true naïve subjects on GH replacement. Conclusions In semi-naïve subjects a longer interval off GH replacement was associated with lower sBMD in the FN. Among true naïve patients, a longer gap between the onset of pituitary disease and GH replacement, and female gender predicted lower sBMD in the FN. PMID:22711759

  5. Reduced susceptibility to azoxymethane-induced aberrant crypt foci formation and colon cancer in growth hormone deficient rats

    PubMed Central

    Carroll, Robert E.; Goodlad, Robert A.; Poole, Aleksandra J.; Tyner, Angela L.; Robey, R. Brooks; Swanson, Steven M.; Unterman, Terry G.

    2010-01-01

    Objectives To evaluate the role of GH in colon carcinogenesis, we examined the formation of aberrant crypt foci (ACFs) and tumor development in wild type (WT) and GH-deficient, spontaneous dwarf rats (SDRs) exposed to the carcinogen azoxymethane (AOM). Design ACF were quantified by stereomicroscopy and tumor number and weights were recorded for each animal. Cell proliferation was measured by vincristine metaphase arrest, flow cytometry, and bromode-oxyuridine (BrdU) incorporation. Apoptosis was measured by TUNEL staining and cleaved caspase-3 immunohistochemistry. IGF-I was measured by radioimmunoassay (RIA). Hexokinase activity was measured by spectrophotometric assay. PARP cleavage, and IGF-IR, and p27kip/cip expression were measured by Western blotting. Results ACFs detected by stereomicroscopy were markedly reduced (~85%) in SDRs vs. WT rats at 10, 25, and 28 weeks after AOM. Tumor incidence, number, and weight also were reduced in SDR vs. WT animals. AOM treatment increased cell proliferation in the distal colon (where tumors occur) of WT rats but not SDRs, and these changes corresponded to increased ACF and tumor formation. Apoptosis rates were similar in AOM-treated WT and SDRs. Alterations in serum IGF-I levels may contribute to differences in the proliferative response to AOM and decreased ACF formation in SDR vs. WT rats. Conclusions We conclude that early neoplastic lesions (ACFs) were reduced in GH-deficient animals. This effect corresponds with differences in AOM-induced proliferation, but not apoptosis. These data indicate that GH is required for the full effect of AOM on colon ACF and tumor development, and that the SDR rat is a promising model for studies regarding the role of GH/IGF system in the initiation and promotion of colon cancer. PMID:19406679

  6. Iron Deficiency Protects Against Severe Plasmodium falciparum Malaria and Death in Young Children

    PubMed Central

    Gwamaka, Moses; Kurtis, Jonathan D.; Sorensen, Bess E.; Holte, Sarah; Morrison, Robert; Mutabingwa, Theonest K.; Fried, Michal

    2012-01-01

    (See the Editorial Commentary by Awah and Kaneko, on pages 1145–7.) Background. Iron supplementation may increase malaria morbidity and mortality, but the effect of naturally occurring variation in iron status on malaria risk is not well studied. Methods. A total of 785 Tanzanian children living in an area of intense malaria transmission were enrolled at birth, and intensively monitored for parasitemia and illness including malaria for up to 3 years, with an average of 47 blood smears. We assayed plasma samples collected at routine healthy-child visits, and evaluated the impact of iron deficiency (ID) on future malaria outcomes and mortality. Results. ID at routine, well-child visits significantly decreased the odds of subsequent parasitemia (23% decrease, P < .001) and subsequent severe malaria (38% decrease, P = .04). ID was also associated with 60% lower all-cause mortality (P = .04) and 66% lower malaria-associated mortality (P = .11). When sick visits as well as routine healthy-child visits are included in analyses (average of 3 iron status assays/child), ID reduced the prevalence of parasitemia (6.6-fold), hyperparasitemia (24.0-fold), and severe malaria (4.0-fold) at the time of sample collection (all P < .001). Conclusions. Malaria risk is influenced by physiologic iron status, and therefore iron supplementation may have adverse effects even among children with ID. Future interventional studies should assess whether treatment for ID coupled with effective malaria control can mitigate the risks of iron supplementation for children in areas of malaria transmission. PMID:22354919

  7. Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.

    PubMed

    Baş, Firdevs; Uyguner, Z Oya; Darendeliler, Feyza; Aycan, Zehra; Çetinkaya, Ergun; Berberoğlu, Merih; Şiklar, Zeynep; Öcal, Gönül; Darcan, Şükran; Gökşen, Damla; Topaloğlu, Ali Kemal; Yüksel, Bilgin; Özbek, Mehmet Nuri; Ercan, Oya; Evliyaoğlu, Olcay; Çetinkaya, Semra; Şen, Yaşar; Atabek, Emre; Toksoy, Güven; Aydin, Banu Küçükemre; Bundak, Rüveyde

    2015-06-01

    To investigate the specific mutations in PROP1, POU1F1, LHX3, and HESX1 genes in patients with combined pituitary hormone deficiency (CPHD) in Turkey. Seventy-six patients with CPHD were included in this study. Based on clinical, hormonal, and neuro-radiological data, relevant transcription factor genes were evaluated by Sanger sequencing and multiplex ligation-dependent probe amplification. Total frequency of mutations was 30.9 % in patients with CPHD. Frequency was significantly higher in familial patients (p = 0.001). Three different types of mutations in PROP1 gene (complete gene deletion, c.301-302delAG, a novel mutation; IVS1+2T>G) were found in 12 unrelated patients (21.8 %). Mutations in PROP1 gene were markedly higher in familial than in sporadic cases (58.8 vs. 5.3 %, p < 0.001). Homozygous complete gene deletion was the most common mutation in PROP1 gene (8/12) and was identified in six familial patients. Four different homozygous mutations [p.Q4X, novel mutations; exons 1-2 deletion, p.V153F, p.I244S] were detected in POU1F1 gene. Central precocious puberty was firstly observed in a sporadic-male patient with homozygous POU1F1 (p.I244S) mutation. A homozygous mutation in HESX1 gene (p.R160H) was detected in one patient. This study is the first to investigate specific mutations in CPHD patients in Turkey. Complete deletion in PROP1 gene was the most common mutation encountered in patients with CPHD. We believe that the results of this study will contribute to the establishment of genetic screening strategies in Turkey, as well as to the studies on phenotype-genotype correlations and early diagnosis of CPHD patients. PMID:25500790

  8. Vitamin A deficiency is associated with gastrointestinal and respiratory morbidity in school-age children.

    PubMed

    Thornton, Kathryn A; Mora-Plazas, Mercedes; Marín, Constanza; Villamor, Eduardo

    2014-04-01

    Infection is an important cause of morbidity throughout childhood. Poor micronutrient status is a risk factor for infection-related morbidity in young children, but it is not clear whether these associations persist during school-age years. We examined the relation between blood concentrations of micronutrient status biomarkers and risk of gastrointestinal and respiratory morbidity in a prospective study of 2774 children aged 5-12 y from public schools in Bogotá, Colombia. Retinol, zinc, ferritin, mean corpuscular volume, hemoglobin, erythrocyte folate, and vitamin B-12 concentrations were measured in blood at enrollment into the cohort. Children were followed for 1 academic year for incidence of morbidity, including diarrhea with vomiting, cough with fever, earache or ear discharge with fever, and doctor visits. Compared with adequate vitamin A status (≥30.0 μg/dL), vitamin A deficiency (<10.0 μg/dL) was associated with increased risk of diarrhea with vomiting [unadjusted incidence rate ratio (IRR): 2.17; 95% CI: 0.95, 4.96; P-trend = 0.03] and cough with fever (unadjusted IRR: 2.36; 95% CI: 1.30, 4.31; P-trend = 0.05). After adjustment for several sociodemographic characteristics and hemoglobin concentrations, every 10 μg/dL plasma retinol was associated with 18% fewer days of diarrhea with vomiting (P < 0.001), 10% fewer days of cough with fever (P < 0.001), and 6% fewer doctor visits (P = 0.01). Every 1 g/dL of hemoglobin was related to 17% fewer days with ear infection symptoms (P < 0.001) and 5% fewer doctor visits (P = 0.009) after controlling for sociodemographic factors and retinol concentrations. Zinc, ferritin, mean corpuscular volume, erythrocyte folate, and vitamin B-12 status were not associated with morbidity or doctor visits. Vitamin A and hemoglobin concentrations were inversely related to rates of morbidity in school-age children. Whether vitamin A supplementation reduces the risk or severity of infection in children over 5 y of age needs to

  9. Biological Systems of Vitamin K: A Plasma Nutriproteomics Study of Subclinical Vitamin K Deficiency in 500 Nepalese Children.

    PubMed

    Lee, Sun Eun; Schulze, Kerry J; Cole, Robert N; Wu, Lee S F; Yager, James D; Groopman, John; Christian, Parul; West, Keith P

    2016-04-01

    Vitamin K (VK) is a fat-soluble vitamin whose deficiency disrupts coagulation and may disturb bone and cardiovascular health. However, the scale and systems affected by VK deficiency in pediatric populations remains unclear. We conducted a study of the plasma proteome of 500 Nepalese children 6-8 years of age (male/female ratio = 0.99) to identify proteins associated with VK status. We measured the concentrations of plasma lipids and protein induced by VK absence-II (PIVKA-II) and correlated relative abundance of proteins quantified by mass spectrometry with PIVKA-II. VK deficiency (PIVKA-II>2 μg/L) was associated with a higher abundance of low-density lipoproteins, total cholesterol, and triglyceride concentrations (p<0.01). Among 978 proteins observed in >10% of the children, five proteins were associated with PIVKA-II and seven proteins were differentially abundant between VK deficient versus sufficient children, including coagulation factor-II, hemoglobin, and vascular endothelial cadherin, passing a false discovery rate (FDR) threshold of 10% (q<0.10). Among 27 proteins associated with PIVKA-II or VK deficiency at a less stringent FDR (q<0.20), a network comprised of hemoglobin subunits and erythrocyte anti-oxidative enzymes were highly and positively correlated each other (all r>0.7). Untargeted proteomics offers a novel systems approach to elucidating biological processes of coagulation, vascularization, and erythrocyte oxidative stress related to VK status. The results may help elucidate subclinical metabolic disturbances related to VK deficiency in populations. PMID:26913649

  10. Biological Systems of Vitamin K: A Plasma Nutriproteomics Study of Subclinical Vitamin K Deficiency in 500 Nepalese Children

    PubMed Central

    Schulze, Kerry J.; Cole, Robert N.; Wu, Lee S. F.; Yager, James D.; Groopman, John; Christian, Parul; West, Keith P.

    2016-01-01

    Abstract Vitamin K (VK) is a fat-soluble vitamin whose deficiency disrupts coagulation and may disturb bone and cardiovascular health. However, the scale and systems affected by VK deficiency in pediatric populations remains unclear. We conducted a study of the plasma proteome of 500 Nepalese children 6–8 years of age (male/female ratio = 0.99) to identify proteins associated with VK status. We measured the concentrations of plasma lipids and protein induced by VK absence-II (PIVKA-II) and correlated relative abundance of proteins quantified by mass spectrometry with PIVKA-II. VK deficiency (PIVKA-II >2 μg/L) was associated with a higher abundance of low-density lipoproteins, total cholesterol, and triglyceride concentrations (p < 0.01). Among 978 proteins observed in >10% of the children, five proteins were associated with PIVKA-II and seven proteins were differentially abundant between VK deficient versus sufficient children, including coagulation factor-II, hemoglobin, and vascular endothelial cadherin, passing a false discovery rate (FDR) threshold of 10% (q < 0.10). Among 27 proteins associated with PIVKA-II or VK deficiency at a less stringent FDR (q < 0.20), a network comprised of hemoglobin subunits and erythrocyte anti-oxidative enzymes were highly and positively correlated each other (all r > 0.7). Untargeted proteomics offers a novel systems approach to elucidating biological processes of coagulation, vascularization, and erythrocyte oxidative stress related to VK status. The results may help elucidate subclinical metabolic disturbances related to VK deficiency in populations. PMID:26913649

  11. Reference intervals of thyroid hormones in a previously iodine-deficient but presently more than adequate area of Western China: a population-based survey.

    PubMed

    Cai, Jing; Fang, Yujie; Jing, Da; Xu, Shaoyong; Ming, Jie; Gao, Bin; Shen, Han; Zhang, Rong; Ji, Qiuhe

    2016-04-25

    The aim of our study is to establish the reference intervals (RIs) of thyroid hormones in a previously iodine-deficient area but presently more than iodine-adequate area of Western China, and also to investigate the factors which affect thyroid function. The cross-sectional study conducted in Xi'an, was based on 2007-2008 China National Diabetes and Metabolic Disorders Survey. Among 1286 participating adults, 717 were finally included as reference population. Thyrotropin (TSH), total triiodothyronine (T3), free triiodothyronine (FT3), total thyroxine (T4), free thyroxine (FT4), thyroperoxidase antibody (TPO-Ab) and thyroglobulin antibody (Tg-Ab) were measured. Thyroid ultrasound examination was also performed. The present study established the new RIs of serum TSH (0.43-5.51 mIU/L), FT4 (11.0-20.4 pmol/L), FT3 (3.63-5.73 pmol/L), T4 (67.8-157 mmol/L) and T3 (1.08-2.20 mmol/L), which were different from the data provided by the manufacturers. Significant differences among all the age groups were observed in FT3, but neither in TSH nor in FT4. The TSH levels in adults with pathologic ultrasonography results or positive thyroid autoantibody were significantly higher than those in reference adults. Our present results provide valuable references for the diagnosis of thyroid diseases in population of Western China. Considering that most inland areas of China have faced the challenge of the transition from iodine deficiency to adequacy or more than adequacy, we recommend physicians utilize our RIs to determine thyroid diseases in the similar areas with Xi'an in China. PMID:26842591

  12. Anabolic and Catabolic Regimens of Human Parathyroid Hormone 1–34 Elicit Bone- and Envelope-Specific Attenuation of Skeletal Effects in Sost-Deficient Mice

    PubMed Central

    Kedlaya, Rajendra; Ellis, Shana N.; Childress, Paul J.; Bidwell, Joseph P.; Bellido, Teresita; Turner, Charles H.

    2011-01-01

    PTH is a potent calcium-regulating factor that has skeletal anabolic effects when administered intermittently or catabolic effects when maintained at consistently high levels. Bone cells express PTH receptors, but the cellular responses to PTH in bone are incompletely understood. Wnt signaling has recently been implicated in the osteo-anabolic response to the hormone. Specifically, the Sost gene, a major antagonist of Wnt signaling, is down-regulated by PTH exposure. We investigated this mechanism by treating Sost-deficient mice and their wild-type littermates with anabolic and catabolic regimens of PTH and measuring the skeletal responses. Male Sost+/+ and Sost−/− mice were injected daily with human PTH 1–34 (0, 30, or 90 μg/kg) for 6 wk. Female Sost+/+ and Sost−/− mice were continuously infused with vehicle or high-dose PTH (40 μg/kg · d) for 3 wk. Dual energy x-ray absorptiometry-derived measures of intermittent PTH (iPTH)-induced bone gain were impaired in Sost−/− mice. Further probing revealed normal or enhanced iPTH-induced cortical bone formation rates but concomitant increases in cortical porosity among Sost−/− mice. Distal femur trabecular bone was highly responsive to iPTH in Sost−/− mice. Continuous PTH (cPTH) infusion resulted in equal bone loss in Sost+/+ and Sost−/− mice as measured by dual energy x-ray absorptiometry. However, distal femur trabecular bone, but not lumbar spine trabecular bone, was spared the bone-wasting effects of cPTH in Sost−/− mice. These results suggest that changes in Sost expression are not required for iPTH-induced anabolism. iPTH-induced resorption of cortical bone might be overstimulated in Sost-deficient environments. Furthermore, Sost deletion protects some trabecular compartments, but not cortical compartments, from bone loss induced by high-dose PTH infusion. PMID:21652726

  13. Association between vitamin D status and serum parathyroid hormone concentration and calcaneal stiffness in Japanese adolescents: sex differences in susceptibility to vitamin D deficiency.

    PubMed

    Tsugawa, Naoko; Uenishi, Kazuhiro; Ishida, Hiromi; Ozaki, Reo; Takase, Tomoki; Minekami, Takuya; Uchino, Yuri; Kamao, Maya; Okano, Toshio

    2016-07-01

    There is currently insufficient information on serum 25-hydroxyvitamin D (25OHD) and parathyroid hormone (PTH) concentrations, and bone mineral status in healthy adolescents to allow reference values to be set. This study aimed to provide comparable data on vitamin D status in Japanese adolescents and to assess sex differences in susceptibility to vitamin D insufficiency. Serum 25OHD and PTH concentrations were measured in 1,380 healthy adolescents (aged 12-18 years). Subjects completed a questionnaire on exercise history, diet, and lifestyle factors. Calcaneal stiffness was evaluated by quantitative ultrasound. Serum 25OHD concentrations in boys and girls were 60.8 ± 18.3 and 52.8 ± 17.0 nmol/L, respectively. Approximately 30 % of boys and 47 % of girls had suboptimal 25OHD concentrations (<50 nmol/L). Serum PTH concentration was negatively correlated with serum 25OHD concentration in boys, but negatively correlated with calcium intake rather than serum 25OHD in girls. In contrast, the increment in calcaneal stiffness as a result of elevation of serum 25OHD was higher in girls than in boys. As vitamin D deficiency is common in Japanese adolescents, it was estimated that intakes of ≥12 and ≥14 μg/day vitamin D would be required to reach 25OHD concentrations of 50 nmol/L in boys and girls, respectively. Moreover, the results of the present study indicate that vitamin D deficiency has a greater association with calcaneal stiffness in girls than in boys. PMID:26260151

  14. Reversible Albumin-Binding GH Possesses a Potential Once-Weekly Treatment Profile in Adult Growth Hormone Deficiency

    PubMed Central

    Janukonyté, Jurgita; Klose, Marianne; Marina, Djordje; Tanvig, Mette; Nielsen, Lene F.; Höybye, Charlotte; Andersen, Marianne; Feldt-Rasmussen, Ulla; Christiansen, Jens Sandahl

    2016-01-01

    Context: NNC0195-0092 is a reversible, albumin-binding GH derivative, developed for once-weekly administration. Objectives: The objective of the study was to evaluate safety, local tolerability, pharmacodynamics, and pharmacokinetics of multiple, once-weekly doses of NNC0195-0092, compared with daily GH. Design and Setting: This was a phase 1, randomized, open-label, active-controlled, multiple-dose, dose-escalation trial. Patients: Thirty-four GH-treated adult subjects (male, n = 25) with GH deficiency participated in the study. Interventions and Main Outcome Measures: Subjects were sequentially assigned into four cohorts of eight subjects, randomized within each cohort (3:1) to once-weekly NNC0195-0092 (n = 6) for 4 weeks (0.02, 0.04, 0.08, and 0.12 mg/kg) or daily injections of Norditropin NordiFlex (n = 2) for 4 weeks with a dose replicating the pretrial dose of somatropin. A safety assessment was performed prior to initiating treatment at the next dose level of NNC0195-0092. Daily GH treatment was discontinued 14 days before the trial start. Blood samples were drawn for assessment of safety, pharmacokinetics, pharmacodynamics (IGF-1 and IGF-binding protein-3) profiles, and immunogenicity studies. Results: Numbers of adverse events were similar at the dose levels of 0.02, 0.04, and 0.08 mg/kg NNC0195-0092 vs daily injections of Norditropin NordiFlex, whereas the number of adverse events was greater at the highest dose level of NNC0195-0092 (0.12 mg/kg). NNC0195-0092 (area under the curve[0–168h]) and peak plasma concentration) increased in a dose-dependent manner, and a dose-dependent increase in IGF-1 levels was observed. IGF-1 profiles were elevated for at least 1 week, and for the 0.02-mg/kg and 0.04-mg/kg NNC0195-0092 doses, the observed IGF-1 levels were similar to the levels for the active control group. Conclusion: Four once-weekly doses of NNC0195-0092 (dose range 0.02–0.12 mg/kg) administered to adult patients with GH deficiency were well tolerated

  15. Relationship between hyperglycemia, hormone disturbances, and clinical evolution in severely hyperglycemic post surgery critically ill children: an observational study

    PubMed Central

    2014-01-01

    Background To study hormonal changes associated with severe hyperglycemia in critically ill children and the relationship with prognosis and length of stay in intensive care. Methods Observational study in twenty-nine critically ill children with severe hyperglycemia defined as 2 blood glucose measurements greater than 180 mg/dL. Severity of illness was assessed using pediatric index of mortality (PIM2), pediatric risk of mortality (PRISM) score, and pediatric logistic organ dysfunction (PELOD) scales. Blood glucose, glycosuria, insulin, C-peptide, cortisol, corticotropin, insulinlike growth factor-1, growth hormone, thyrotropin, thyroxine, and treatment with insulin were recorded. β-cell function and insulin sensitivity and resistance were determined on the basis of the homeostatic model assessment (HOMA), using blood glucose and C-peptide levels. Results The initial blood glucose level was 249 mg/dL and fell gradually to 125 mg/dL at 72 hours. Initial β-cell function (49.2%) and insulin sensitivity (13.2%) were low. At the time of diagnosis of hyperglycemia, 50% of the patients presented insulin resistance and β-cell dysfunction, 46% presented isolated insulin resistance, and 4% isolated β-cell dysfunction. β-cell function improved rapidly but insulin resistance persisted. Initial glycemia did not correlate with any other factor, and there was no relationship between glycemia and mortality. Patients who died had higher cortisol and growth hormone levels at diagnosis. Length of stay was correlated by univariate analysis, but not by multivariate analysis, with C-peptide and glycemic control at 24 hours, insulin resistance, and severity of illness scores. Conclusions Critically ill children with severe hyperglycemia initially present decreased β-cell function and insulin sensitivity. Nonsurvivors had higher cortisol and growth hormone levels and developed hyperglycemia later than survivors. PMID:24628829

  16. Iodine deficiency disorders.

    PubMed

    Elliott, T C

    1987-01-01

    Iodine deficiency disorder (IDD) affects 800 million people in the world, yet iodine supplementation is one of the most cost-effective nutritional interventions known. Iodine is incorporated into thyroid hormones, necessary for regulating metabolic rate, growth, and development of the brain and nervous system. IDD may appear as goiter in adults, usually not a serious problem, or in cretinism in children, which is marked by severe mental and physical retardation, with irreversible hearing and speech defects and either deaf-mutism, squint and paralysis, or stunting and edema. Children supplemented by age 1 or 2 can sometimes be helped. Foods contain variable amounts of iodine dependent on the soil where they are grown, hence mountainous and some inland regions have high goiter and IDD incidence. There are also goitrogenic foods, typically those of the cabbage family. Diagnosis is clinical or by blood tests for thyroid hormone levels and ratios. Finger-stick methods are available. Prevention of IDD is simple with either iodized salt or flour, iodinated central water supplies, injectable or oral iodine-containing oil. All cost about $.04 per person per year, except injections, which cost about $1 per person, but have the advantage that they could be combined with immunizations. Local problems with supplements are loss of iodine in salt with storage in tropics, and local production of cheaper uniodinated salt. Emphasis should be given to pregnant women and young children. There is no harm in giving pregnant women iodine injections in 2nd or 3rd trimester. PMID:12343033

  17. Effect of recombinant human growth hormone on changes in height, bone mineral density, and body composition over 1-2 years in children with Hurler or Hunter syndrome.

    PubMed

    Polgreen, Lynda E; Thomas, William; Orchard, Paul J; Whitley, Chester B; Miller, Bradley S

    2014-02-01

    Patients with Hurler or Hunter syndrome typically have moderate to severe growth deficiencies despite therapy with allogeneic hematopoietic stem cell transplantation and/or enzyme replacement therapy. It is unknown whether treatment with recombinant human growth hormone (hGH) can improve growth in these children. The objectives of this study were to determine the effects of hGH on growth, bone mineral density (BMD), and body composition in children with Hurler or Hunter syndrome enrolled in a longitudinal observational study. The difference in annual change in outcomes between hGH treated and untreated subjects was estimated by longitudinal regression models that adjusted for age, Tanner stage, and sex where appropriate. We report on 23 participants who completed at least 2 annual study visits (10 [43%] treated with hGH): Hurler syndrome (n=13) average age of 9.8 ± 3.1 years (range 5.3-13.6 years; 54% female) and Hunter syndrome (n=10) average age of 12.0 ± 2.7 years (range 7.0-17.0 years; 0% female). As a group, children with Hurler or Hunter syndrome treated with hGH had no difference in annual change in height (growth velocity) compared to those untreated with hGH. Growth velocity in hGH treated individuals ranged from -0.4 to 8.1cm/year and from 0.3 to 6.6 cm/year in the untreated individuals. Among children with Hunter syndrome, 100% (N=4) of those treated but only 50% of those untreated with hGH had an annual increase in height standard deviation score (SDS). Of the individuals treated with hGH, those with GHD had a trend towards higher annualized growth velocity compared to those without GHD (6.5 ± 1.9 cm/year vs. 3.5 ± 2.1cm/year; p=.050). Children treated with hGH had greater annual gains in BMD and lean body mass. In conclusion, although as a group we found no significant difference in growth between individuals treated versus not treated with hGH, individual response was highly variable and we are unable to predict who will respond to treatment. Thus

  18. Genetics Home Reference: cytochrome P450 oxidoreductase deficiency

    MedlinePlus

    ... P450 oxidoreductase deficiency is a disorder of hormone production. This condition specifically affects steroid hormones, which are ... activity of cytochrome P450 oxidoreductase, which disrupts the production of steroid hormones. Changes in sex hormones such ...

  19. Evaluation Efficacy of Ferrous Sulfate Therapy on Headaches of 5-15 Years Old Iron Deficient Children with Migraine

    PubMed Central

    Fallah, R; Zare Bidoki, S; Ordooei, M

    2016-01-01

    Background Some researches have shown the association between iron deficiency and migraine headache in adults. The aim of present study was to evaluate efficacy of ferrous sulfate treatment on migraine headaches of 5-15 years old migraineur children with iron deficiency. Materials and Methods In a quasi- experimental study, monthly frequency, severity, duration and disability of headaches of 5-15 years old migraineur children that prophylactic therapy was indicated in them and had iron deficiency who were referred to Pediatric Neurology Clinic of Shahid Sadoughi University of Medical Sciences, Yazd, Iran between 2013 and 2015 and were treated with 2mg/kg/day topiramate plus 4mg/kg/day of ferrous sulfate for three consecutive months, were evaluated and headache characteristics before and after treatment were compared. Results In this study, 98 children with mean age of 9.72±3.19 were evaluated that 31children (31.6%) had iron deficiency. Monthly frequency (22.89±7.18 vs.14.5±4.56, P= 0.02), severity score (8.12± 1.76 vs. 5.03±1.15, P= 0.02) and disability score of headache (38.23±10.7vs. 30.12±7.46, P= 0.03) were more in children with iron deficiency. Iron therapy was effective in decreasing of monthlyfrequency 22.89± 7.18 vs. 10.13±4.51, P = 0.001), severity score (8.12±1.76 vs. 5.11±1.62, P =0.001), duration (2.14±1.23 vs.1.14±1.01, P= 0.001) and disability score of headache (38.23±10.7 vs. 22.87±8.65, P= 0.01). Conclusion In children, iron deficiency increased monthly frequency, severity and disability of migraine headache and ferrous sulfate can be used as a safe and effective drug in migraine prophylaxis. PMID:27222700

  20. Treatment with N- and C-Terminal Peptides of Parathyroid Hormone-Related Protein Partly Compensate the Skeletal Abnormalities in IGF-I Deficient Mice

    PubMed Central

    Portal-Núñez, Sergio; Murillo-Cuesta, Silvia; Lozano, Daniel; Cediel, Rafael; Esbrit, Pedro

    2014-01-01

    Insulin-like growth factor-I (IGF-I) deficiency causes growth delay, and IGF-I has been shown to partially mediate bone anabolism by parathyroid hormone (PTH). PTH-related protein (PTHrP) is abundant in bone, and has osteogenic features by poorly defined mechanisms. We here examined the capacity of PTHrP (1–36) and PTHrP (107–111) (osteostatin) to reverse the skeletal alterations associated with IGF-I deficiency. Igf1-null mice and their wild type littermates were treated with each PTHrP peptide (80 µg/Kg/every other day/2 weeks; 2 males and 4 females for each genotype) or saline vehicle (3 males and 3 females for each genotype). We found that treatment with either PTHrP peptide ameliorated trabecular structure in the femur in both genotypes. However, these peptides were ineffective in normalizing the altered cortical structure at this bone site in Igf1-null mice. An aberrant gene expression of factors associated with osteoblast differentiation and function, namely runx2, osteoprotegerin/receptor activator of NF-κB ligand ratio, Wnt3a, cyclin D1, connexin 43, catalase and Gadd45, as well as in osteocyte sclerostin, was found in the long bones of Igf1-null mice. These mice also displayed a lower amount of trabecular osteoblasts and osteoclasts in the tibial metaphysis than those in wild type mice. These alterations in Igf1-null mice were only partially corrected by each PTHrP peptide treatment. The skeletal expression of Igf2, Igf1 receptor and Irs2 was increased in Igf1-null mice, and this compensatory profile was further improved by treatment with each PTHrP peptide related to ERK1/2 and FoxM1 activation. In vitro, PTHrP (1–36) and osteostatin were effective in promoting bone marrow stromal cell mineralization in normal mice but not in IGF-I-deficient mice. Collectively, these findings indicate that PTHrP (1–36) and osteostatin can exert several osteogenic actions even in the absence of IGF-I in the mouse bone. PMID:24503961

  1. Receptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient.

    PubMed

    Berg, M A; Peoples, R; Pérez-Jurado, L; Guevara-Aguirre, J; Rosenbloom, A L; Laron, Z; Milner, R D; Francke, U

    1994-04-01

    Eight different mutations were detected in the growth hormone (GH) receptor gene of patients with inherited GH receptor deficiency (GHRD; Laron syndrome) from five continents. All the mutations are located in the extracellular domain of the receptor and are predicted to cause gross structural abnormalities and non-functional receptor molecules. They include three nucleotide changes in the coding region causing translational stop signals, including the newly identified E183X mutation; two nucleotide changes in introns that affect splice junctions; two dinucleotide deletions that result in stop codons downstream; and one single nucleotide change that activates a donor splice site within an exon and results in a transcript missing 24 nucleotides. This latter mutation (E180splice) was first identified in a cohort of patients with GHRD from southern Ecuador. Based on the fact that the E180splice mutation generates a new cleavage site for the restriction enzyme MnlI, a simple diagnostic test has been developed that can be carried out on dried blood spots collected on filter paper. A total of 55 affected individuals from Ecuador has been found to be homozygous for this mutation. Asymptomatic carriers can also be detected, and 104 of 150 individuals screened were found to be carriers. Using this test, the E180splice mutation has recently been detected in one of two oriental Jewish patients from Israel. PMID:7949594

  2. 25-Hydroxyvitamin D: functional outcomes in infants and young children.

    PubMed

    Greer, Frank R

    2008-08-01

    Vitamin D deficiency occurs in the United States in exclusively breastfed infants who have high levels of skin pigmentation, inadequate vitamin D supplementation, and insufficient sunlight exposure. I review serum 25-hydroxyvitamin D [25(OH)D] concentrations and functional outcomes of vitamin deficiency in young children and breastfed and nonbreastfed infants. These outcomes include the presence or absence of vitamin D deficiency rickets, bone mineral content, and serum parathyroid hormone concentration. Daily vitamin D supplements of 400 IU/L keep serum 25(OH)D concentrations higher than 50 nmol/L and prevent rickets in infants and young children. The available evidence is not sufficient to support the use of bone mineral content or parathyroid hormone concentrations in infants and young children as functional outcomes to define deficient or sufficient levels of 25(OH)D. I therefore propose a research agenda to establish the functional definitions of vitamin D sufficiency or deficiency in infants and young children. PMID:18689395

  3. Accelerated telomere attrition in children and teenagers with α1-antitrypsin deficiency.

    PubMed

    Escribano, Amparo; Pastor, Sara; Reula, Ana; Castillo, Silvia; Vicente, Silvia; Sanz, Francisco; Casas, Francisco; Torres, María; Fernández-Fabrellas, Estrella; Codoñer-Franch, Pilar; Dasí, Francisco

    2016-08-01

    Numerous studies have shown that oxidative stress accelerates telomere shortening in several lung pathologies. Since oxidative stress is involved in the pathophysiology of α1-antitrypsin deficiency (AATD), we hypothesised that telomere shortening would be accelerated in AATD patients. This study aimed to assess telomere length in AATD patients and to study its association with α1-antitrypsin phenotypes.Telomere length, telomerase activity, telomerase reverse transcriptase (hTERT) expression and biomarkers of oxidative stress were measured in 62 children and teenagers (aged 2-18 years) diagnosed with AATD and 18 controls (aged 3-16 years).Our results show that intermediate-risk (MZ; SZ) and high-risk (ZZ) AATD patients have significantly shorter telomeres and increased oxidative stress than controls. Correlation studies indicate that telomere length was related to oxidative stress markers in AATD patients. Multiple hypothesis testing revealed an association between telomere length, telomerase activity, hTERT expression and AATD phenotypes; high-risk patients showed shorter telomeres, lower hTERT expression and decreased telomerase activity than intermediate-risk and low-risk patients.AATD patients show evidence of increased oxidative stress leading to telomere attrition. An association between telomere and α1-antitrypsin phenotypes is observed suggesting that telomere length could be a promising biomarker for AATD disease progression. PMID:27390278

  4. Diagnostic yield of upper gastrointestinal endoscopy in the evaluation of iron deficiency anemia in older children and adolescents.

    PubMed

    Gulen, Huseyin; Kasirga, Erhun; Yildirim, Sule Aslan; Kader, Sebnem; Sahin, Gulseren; Ayhan, Semin

    2011-11-01

    Iron deficiency anemia (IDA) is frequent in childhood. Inadequate nutrition and gastrointestinal malabsorption are the frequent causes of IDA in children. But reduced iron absorption and insidious blood loss from the gastrointestinal tract has been identified as the most frequent causes of IDA in older children and adolescents. Therefore the authors evaluated the frequency and etiologies of the upper gastrointestinal system pathologies causing IDA in older pediatric population. Patients with known hematological or chronic diseases, heavy menstrual flow, and obvious blood loss were excluded from the study. Forty-four children between the ages of 9.5 and 17.5 years and diagnosed with IDA were enrolled. They underwent upper gastrointestinal endoscopy and biopsy from esophagus, stomach, and duodenum. Mean age and hemoglobin (Hb) levels of study group (32 boys, and 12 girls) were 14.6 ± 2.0 years and 7.9 ± 1.8 g/dL, respectively. Only 1 patient had a positive serology testing with anti-tissue transglutaminase and small bowel biopsy correlating with celiac disease. Endoscopy revealed abnormal findings in 25 (56.8%) patients (21 endoscopic antral gastritis, 2 active duodenal ulcers, and 2 duodenal polyps). Helicobacter pylori (HP) infection was identified by using antral histopathological evaluation in 19 of 44 children (43.2%). In 2 of duodenal samples, one patient had celiac disease, and the other one was diagnosed as giardiasis. In conclusion, there are different etiologies resulting in IDA in older children and adolescents. When older children and adolescents are found to have iron deficiency, HP infection and other gastrointestinal pathologies should be ruled out before iron deficiency treatment. PMID:21728721

  5. Adrenal steroid, cortisol, adrenocorticotropin, and beta-endorphin responses to human corticotropin-releasing hormone stimulation test in normal children and children with premature pubarche.

    PubMed

    Ghizzoni, L; Virdis, R; Ziveri, M; Lamborghini, A; Alberini, A; Volta, C; Bernasconi, S

    1989-10-01

    To determine whether CRH affects adrenal androgen, beta-endorphin (B-E), and ACTH secretion in normal children during sexual maturation, 17-hydroxyprogesterone (17-OHP), androstenedione (D4-A), dehydroepiandrosterone (DHEA), DHEA sulfate (DS), cortisol, B-E, and ACTH were measured after an iv injection of 1 microgram/kg human CRH. Children with premature pubarche were similarly analyzed to establish whether this condition is accompanied by altered hormonal responses to CRH. CRH produced consistent increases in ACTH, B-EP, and cortisol blood levels, which were comparable at all age intervals in all groups. 17-OHP increased after CRH injection, but its response linearly with age. D4-A levels were not influenced, while DHEA and DS levels were only partially influenced by CRH. The stimulated D4-A to 17-OHP ratio increased with sexual maturation, whereas ratios of cortisol to 17-OHP and D4-A to DHEA remained constant. Children with premature pubarche had hormonal responses similar in magnitude to those of prepubertal children of comparable age. In conclusion, an increase in 17,20-desmolase efficiency occurs with postnatal maturation after CRH challenge. Moreover, CRH does not appear to play an important role in premature pubarche. PMID:2550509

  6. Effects of essential fatty acids in iron deficient and sleep-disturbed attention deficit hyperactivity disorder (ADHD) children.

    PubMed

    Yehuda, S; Rabinovitz-Shenkar, S; Carasso, R L

    2011-10-01

    Inattention, hyperactivity and impulsivity constitute the core diagnostic criteria for attention deficit hyperactivity disorder (ADHD) children. Patients generally suffer from sleep disturbance and malnutrition that can account for tiredness during the day, poor concentration, poor eating and depressed mood, along with anemia and an n-3 polyunsaturated acid deficiency. The change of ADHD behavior in children (9-12) was studied, following 10 weeks of treatment with a polyunsaturated acid mixture on six variables: cooperation, mood, concentration, homework preparation, fatigue and sleep quality. Iron status was also examined. Polyunsaturated acid administration was associated with significant improvement in quality of life, ability to concentrate, sleep quality and hemoglobin levels. PMID:21587279

  7. [Serum levels of Zn in children with different degress of nutritional deficiency].

    PubMed

    Amesty-Valbuena, Alis; Pereira-Medero, Nayda; Núñez-González, José Rafael de Jesús; García, Doris; de Villaroel, Monserrat Vicente; Granadillo, Víctor; Manzanilla, José; Fernández, Denny

    2006-12-01

    The importance of Zinc (Zn) as a necessary oligoclement for human nutrition begins in the first three decades of life. At the moment, the role that Zn plays in the infantile nutrition is very well-known, acquiring a special connotation in children with proteic-energetics malnutrition (PEM). In this study the daily ingestion and the serum measuremets of Zn were determined in 64 undernourished children (light, mild and severe) and in 25 eutrophic children with ages between 1 to 5 years, belonging to families of the strata IV and V according to the Graffar scale corrected by age. The results of the serum values of Zn were for the light undernourished of 39.73 +/- 14.97 microg/dL (30.38 microg/dL-44.56 microg/dL), for the mild undernourished of 35.07 +/- 28.13 microg/dL (27.76 microg/dL-65.80 microg/dL) and for the severe undernourished of 15.48 +/- 10.44 microg/dL (5.57 microg/dL-28.56 microg/dL), which were diminished in relation with the control group, 76.71 +/- 33.29 microg/dL (45.75 microg/dL - 78.27 microg/dL) with p < 0.0001. Equally, there were significant differences (p < 0.001) among the group of severe undernourished with the light undernourished and normal subjects. In relation with the daily ingestion of Zn, a statistically significant difference was observed only (p < 0.001) in the severe undernourished, 1.87 +/- 0.54 mg/día (1.20 mg/día-2.87 mg/día) when comparing them with the light undernourished, 5.48 +/- 0.98 mg/día (3.50 mg/día-7.87 mg/día), the mild undernourished, 4.99 +/- 1.24 mg/día (4.10 mg/día-11.42 mg/día) ) and the normal subjects, 6.22 +/- 0.98 mg/día (4.8 mg/día-8.02 mg/día). There was a positive correlation between ingestion and seric values of Zn when the 3 undernourished groups were studied. These results allow to conclude that both the seric values of Zn and its ingestion show modifications in relation with the degree of nutritional deficiency. PMID:17176903

  8. Iodine deficiency in pregnancy, infancy and childhood and its consequences for brain development.

    PubMed

    Melse-Boonstra, Alida; Jaiswal, Nidhi

    2010-02-01

    Iodine deficiency during foetal development and early childhood is associated with cognitive impairment. Randomised clinical studies in school-aged children encountered in the literature indicate that cognitive performance can be improved by iodine supplementation, but most studies suffer from methodological constraints. Tests to assess cognitive performance in the domains that are potentially affected by iodine deficiency need to be refined. Maternal iodine supplementation in areas of mild-to-moderate iodine deficiency may improve cognitive performance of the offspring, but randomised controlled studies with long-term outcomes are lacking. Studies in infants or young children have not been conducted. The best indicators for iodine deficiency in children are thyroid-stimulating hormone (TSH) in newborns and thyroglobulin (Tg) in older children. Urinary iodine may also be useful but only at the population level. Adequate salt iodisation will cover the requirements of infants and children as well as pregnant women. However, close monitoring remains essential. PMID:20172468

  9. Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency

    PubMed Central

    2012-01-01

    Background SLC6A8, an X-linked gene, encodes the creatine transporter (CRTR) and its mutations lead to cerebral creatine (Cr) deficiency which results in mental retardation, speech and language delay, autistic-like behaviour and epilepsy (CRTR-D, OMIM 300352). CRTR-D represents the most frequent Cr metabolism disorder but, differently from Cr synthesis defects, that are partially reversible by oral Cr supplementation, does not respond to Cr treatment even if precociously administrated. The precursors of Cr are the non-essential amino acids Glycine (Gly) and Arginine (Arg), which have their own transporters at the brain–blood barrier level and, therefore, their supplementation appears an attractive and feasible therapeutic option aimed at stimulating Cr endogenous synthesis and, in this way, at overcoming the block of Cr transport within the brain. However, until now the effects of Arg and/or Gly supplementation on Cr brain levels and behaviour have been controversial. Methods In this study five Italian male patients affected by CRTR-D were supplemented with oral L-Arg at a dosage of 300 mg/kg/day divided into 3 doses, for 24–36 months. Biochemical and plasmatic amino acids examinations and thyroid hormone dosages were periodically performed. Moreover, Proton and Phosphorus Magnetic Resonance Spectroscopy (MRS) was monitored during follow-up in concurrence with neuropsychological evaluations. Results During L-Arg treatment a clinical improvement in motor skills and to a lesser extent in communication and attention was observed. In addition, all patients had a reduction in the number and frequency of epileptic seizures. Daily living skills appeared also to be positively influenced by L-Arg treatment. Moreover, Total Cr and especially PhosphoCr, evaluated by proton and phosphorus spectroscopy, showed a mild increase, although well below the normal range. Conclusion This study provides information to support the effectiveness of L-Arg supplement treatment in

  10. A Randomized Safety and Efficacy Study of Somavaratan (VRS-317), a Long-Acting rhGH, in Pediatric Growth Hormone Deficiency

    PubMed Central

    Moore, Wayne V.; Nguyen, Huong Jil; Kletter, Gad B.; Miller, Bradley S.; Rogers, Douglas; Ng, David; Moore, Jerome A.; Humphriss, Eric; Cleland, Jeffrey L.

    2016-01-01

    Context: Somavaratan (VRS-317) is a long-acting form of recombinant human GH under development for children and adults with GH deficiency (GHD). Objectives: To determine the optimal somavaratan dose regimen to normalize IGF-1 in pediatric GHD and to evaluate safety and efficacy of somavaratan over 6 months. Design: Open-label, multicenter, single ascending dose study followed by 6-month randomized comparison of 3 dosing regimens. Setting: Twenty-five United States pediatric endocrinology centers. Patients: Naive-to-treatment, prepubertal children with GHD (n = 68). Intervention(s): Patients received single sc doses of somavaratan (0.8, 1.2, 1.8, 2.7, 4.0, or 6.0 mg/kg) during the 30-day dose-finding phase, then were randomized to somavaratan 1.15 mg/kg weekly, 2.5 mg/kg twice monthly, or 5.0 mg/kg monthly for 6 months. Main Outcome Measures: Safety, pharmacokinetics, pharmacodynamics, 6-month height velocity (HV). Results: Somavaratan pharmacokinetics was linearly proportional to dose; dose-dependent increases in the magnitude and duration of IGF-1 responses enabled weekly, twice-monthly or monthly dosing. A single dose of somavaratan sustained IGF-1 responses for up to 1 month. No somavaratan or IGF-1 accumulation occurred with repeat dosing. Mean annualized HVs for somavaratan administered monthly, twice monthly, or weekly (7.86 ± 2.5, 8.61 ± 2.7, and 7.58 ± 2.5 cm/y, respectively) were similar between groups. Adverse events were mostly mild and transient. Conclusions: Somavaratan demonstrated clinically meaningful improvements in HV and IGF-1 in prepubertal children with GHD, with no significant differences between monthly, twice-monthly, or weekly dosing. PMID:26672637

  11. Disruption of thyroid hormone homeostasis in Ugt1a-deficient Gunn rats by microsomal enzyme inducers is not due to enhanced thyroxine glucuronidation

    SciTech Connect

    Richardson, Terrilyn A.; Klaassen, Curtis D.

    2010-10-01

    Microsomal enzyme inducers (MEI) that increase UDP-glucuronosyltransferases (UGTs) are thought to increase glucuronidation of thyroxine (T{sub 4}), thus reducing serum T{sub 4}, and subsequently increasing thyroid stimulating hormone (TSH). Ugt1a1 and Ugt1a6 mediate T{sub 4} glucuronidation. Therefore, this experiment determined the involvement of Ugt1a enzymes in increased T{sub 4} glucuronidation, decreased serum T{sub 4}, and increased TSH after MEI treatment. Male Wistar and Ugt1a-deficient Wistar (Gunn) rats were fed a control diet or diet containing pregnenolone-16{alpha}-carbonitrile (PCN; 800 ppm), 3-methylcholanthrene (3-MC; 200 ppm), or Aroclor 1254 (PCB; 100 ppm) for 7 days. Serum T{sub 4}, triiodothyronine (T{sub 3}), and TSH concentrations, hepatic T{sub 4}/T{sub 3} glucuronidation, and thyroid histology and follicular cell proliferation were investigated. PCN, 3-MC, and PCB treatments decreased serum T{sub 4}, whereas serum T{sub 3} was maintained in both Gunn and Wistar rats (except for PCB treatment). TSH was increased in Wistar and Gunn rats after PCN (130 and 277%) or PCB treatment (72 and 60%). T{sub 4} glucuronidation in Wistar rats was increased after PCN (298%), 3-MC (85%), and PCB (450%), but was extremely low in Gunn rats, and unchanged after MEI. T{sub 3} glucuronidation was increased after PCN (121%) or PCB (58%) in Wistar rats, but only PCN increased T{sub 3} glucuronidation in Gunn rats (43%). PCN treatment induced thyroid morphological changes and increased follicular cell proliferation in both strains. These data demonstrate that T{sub 4} glucuronidation cannot be increased in Ugt1a-deficient Gunn rats. Thus, the decrease in serum T{sub 4}, increase in TSH, and increase in thyroid cell proliferation after MEI are not dependent on increased T{sub 4} glucuronidation, and cannot be attributed to Ugt1a enzymes.

  12. [Prevalence and determinants of anemia in young children in French-speaking Africa. Role of iron deficiency].

    PubMed

    Diouf, S; Folquet, M; Mbofung, K; Ndiaye, O; Brou, K; Dupont, C; N'dri, D; Vuillerod, M; Azaïs-Braesco, V; Tetanye, E

    2015-11-01

    Anemia and iron deficiency are major public health issues worldwide and particularly in Africa. Reliable information about their prevalence and associated factors is required to allow for effective actions. In this study, we used data from recent (2006-2012) large population health surveys, carried out in 11 French-speaking African countries (Benin, Burkina Faso, Cameroon, Congo Brazzaville, Ivory Coast, Gabon, Guinea, Mali, Niger, Democratic Republic of Congo, and Senegal). Hemoglobin (Hb) was assessed and demographic and health-related parameters were obtained from nation-representative samples of children aged 6-59 months. Anemia (Hb<11g/dL) was found in 72.4% of the children (60.2-87.8%), with no gender difference but a slightly lower incidence in older children (62% at age 4-5 years versus 85% at age 9 months), especially for the more severe forms (2.1% versus 8.7%, respectively). Anemia was only slightly but significantly affected by location (75.5% in rural areas versus 67.3% in towns), income (79.8% in lower quintile of income versus 62.3% in higher quintile), or maternal education (74.1% in children from non-educated mothers versus 62.4% in children whose mothers had secondary education). Nearly 50% of women of child-bearing age had anemia. In the countries that report this information, less than 50% (17-65%) of children consumed iron-rich foods regularly and only 12% (7.4-20.5%) received iron supplementation. Infection and parasitism are known to affect some markers of iron status, because of the inflammatory reaction, thereby making the diagnosis of iron deficiency difficult. In the study countries, acute respiratory diseases and diarrhea affected 6.2 and 15.6% of children aged between 6 and 59 months, respectively; their distribution according to age and location is very different from the one of anemia, which is also the case for the distribution of malaria. It is thus likely that a large part of the anemia observed in young children is due to iron

  13. Iron fortification of whole wheat flour reduces iron deficiency and iron deficiency anemia and increases body iron stores in Indian school-aged children.

    PubMed

    Muthayya, Sumithra; Thankachan, Prashanth; Hirve, Siddhivinayak; Amalrajan, Vani; Thomas, Tinku; Lubree, Himangi; Agarwal, Dhiraj; Srinivasan, Krishnamachari; Hurrell, Richard F; Yajnik, Chittaranjan S; Kurpad, Anura V

    2012-11-01

    Wheat is the primary staple food for nearly one-third of the world's population. NaFeEDTA is the only iron (Fe) compound suitable for fortifying high extraction flours. We tested the hypothesis that NaFeEDTA-fortified, whole wheat flour reduces Fe deficiency (ID) and improves body Fe stores (BIS) and cognitive performance in Indian children. In a randomized, double-blind, controlled, school feeding trial, 6- to 15-y-old, Fe-depleted children (n = 401) were randomly assigned to either a daily wheat-based lunch meal fortified with 6 mg of Fe as NaFeEDTA or an otherwise identical unfortified control meal. Hemoglobin (Hb) and Fe status were measured at baseline, 3.5 mo, and 7 mo. Cognitive performance was evaluated at baseline and 7 mo in children (n = 170) at one of the study sites. After 7 mo, the prevalence of ID and ID anemia in the treatment group significantly decreased from 62 to 21% and 18 to 9%, respectively. There was a time x treatment interaction for Hb, serum ferritin, transferrin receptor, zinc protoporphyrin, and BIS (all P < 0.0001). Changes in BIS differed between the groups; it increased in the treatment group (0.04 ± 0.04 mmol/kg body weight) and decreased in the control group (-0.02 ± 0.04 mmol/kg body weight) (P < 0.0001). In sensory tests, NaFeEDTA-fortified flour could not be differentiated from unfortified flour. There were no significant differences in cognitive performance tests between the groups. NaFeEDTA-fortified wheat flour markedly improved BIS and reduced ID in Fe-depleted children. It may be recommended for wider use in national school feeding programs. PMID:23014487

  14. Low plasma selenium concentrations in critically ill children: the interaction effect between inflammation and selenium deficiency

    PubMed Central

    2014-01-01

    Introduction Low plasma selenium concentrations are frequent in critically ill patients. However, whether this is due to systemic inflammation, a deficient nutritional state or both is still not clear. We aimed to determine the factors associated with low plasma selenium in critically ill children while considering the inflammatory response and nutritional status. Method A prospective study was conducted in 173 children (median age 34 months) with systemic inflammatory response who had plasma selenium concentrations assessed 48 hours after admission and on the 5th day of ICU stay. The normal reference range was 0.58 μmol/L to 1.6 μmol/L. The outcome variable was ‘low plasma selenium’, which was defined as plasma selenium values below the distribution median during this period. The main explanatory variables were age, malnutrition, sepsis, C-reactive protein (CRP), and clinical severity scores. The data were analyzed using a Binomial Generalized Estimating Equations model, which includes the correlation between admission and 5th day responses. Results Malnutrition and CRP were associated with low plasma selenium. The interaction effect between these two variables was significant. When CRP values were less than or equal to 40 mg/L, malnutrition was associated with low plasma selenium levels (odds ratio (OR) = 3.25, 95% confidence interval (CI) 1.39 to 7.63, P = 0.007; OR = 2.98, 95% CI 1.26 to 7.06, P = 0.013; OR = 2.49, 95% CI 1.01 to 6.17, P = 0.049, for CRP = 10, 20 and 40 mg/L, respectively). This effect decreased as CRP concentrations increased and there was loose significance when CRP values were >40 mg/L. Similarly, the effect of CRP on low plasma selenium was significant for well-nourished patients (OR = 1.13; 95% CI 1.06 to 1.22, P <0.001) but not for the malnourished (OR = 1.03; 95% CI 0.99 to 1.08, P = 0.16). Conclusions There is a significant interaction between the magnitude of the inflammatory

  15. Use of combined measures from capillary blood to assess iron deficiency in rural Kenyan children.

    PubMed

    Shell-Duncan, Bettina; McDade, Thomas

    2004-02-01

    Community-based surveys of iron deficiency (ID) require simple, accurate methods that can be used in remote areas. The objective of this study was to assess iron status in rural Kenya using "field-friendly" methods for capillary blood, including an improved dried blood spot assay for transferrin receptor (TfR). A single finger stick was used to obtain capillary blood from 275 school-age children. Whole blood was applied directly to filter paper, dried, and later analyzed for TfR, as well as C-reactive protein (CRP), an acute-phase protein that serves as a general marker of inflammation. Capillary blood was also used to measure hemoglobin (Hb) concentration and the ratio of zinc protoporphyrin to heme (ZPP:H). The Hb concentration alone provides the lowest estimate of the prevalence of ID (8.0%). Because ZPP:H is reported to be elevated in the presence of inflammation, we constructed a preliminary diagnostic model based on elevated ZPP:H and normal CRP level, estimating the prevalence of ID at 25.9%. When TfR is added to a multiple criteria model (elevated ZPP:H in the absence of elevated CRP and/or elevated TfR level) the prevalence of ID is estimated to be 31.2%. This study demonstrates the diagnostic utility of combining TfR with other indexes of iron status, enabling the detection of ID in both the presence and absence of infection. Furthermore, this study is the first field application of TfR blood-spot methods, and it demonstrates their feasibility in remote field settings. PMID:14747676

  16. GH deficiency status combined with GH receptor polymorphism affects response to GH in children

    PubMed Central

    Valsesia, Armand; Chatelain, Pierre; Stevens, Adam; Peterkova, Valentina A; Belgorosky, Alicia; Maghnie, Mohamad; Antoniazzi, Franco; Koledova, Ekaterina; Wojcik, Jerome; Farmer, Pierre; Destenaves, Benoit; Clayton, Peter

    2015-01-01

    Meta-analysis has shown a modest improvement in first-year growth response to recombinant human GH (r-hGH) for carriers of the exon 3-deleted GH receptor (GHRd3) polymorphism but with significant interstudy variability. The associations between GHRd3 and growth response to r-hGH over 3 years in relation to severity of GH deficiency (GHD) were investigated in patients from 14 countries. Treatment-naïve pre-pubertal children with GHD were enrolled from the PREDICT studies (NCT00256126 and NCT00699855), categorized by peak GH level (peak GH) during provocation test: ≤4 μg/l (severe GHD; n=45) and >4 to <10 μg/l mild GHD; n=49) and genotyped for the GHRd3 polymorphism (full length (fl/fl, fl/d3, d3/d3). Gene expression (GE) profiles were characterized at baseline. Changes in growth (height (cm) and SDS) over 3 years were measured. There was a dichotomous influence of GHRd3 polymorphism on response to r-hGH, dependent on peak GH level. GH peak level (higher vs lower) and GHRd3 (fl/fl vs d3 carriers) combined status was associated with height change over 3 years (P<0.05). GHRd3 carriers with lower peak GH had lower growth than subjects with fl/fl (median difference after 3 years −3.3 cm; −0.3 SDS). Conversely, GHRd3 carriers with higher peak GH had better growth (+2.7 cm; +0.2 SDS). Similar patterns were observed for GH-dependent biomarkers. GE profiles were significantly different between the groups, indicating that the interaction between GH status and GHRd3 carriage can be identified at a transcriptomic level. This study demonstrates that responses to r-hGH depend on the interaction between GHD severity and GHRd3 carriage. PMID:26340968

  17. GH deficiency status combined with GH receptor polymorphism affects response to GH in children.

    PubMed

    Valsesia, Armand; Chatelain, Pierre; Stevens, Adam; Peterkova, Valentina A; Belgorosky, Alicia; Maghnie, Mohamad; Antoniazzi, Franco; Koledova, Ekaterina; Wojcik, Jerome; Farmer, Pierre; Destenaves, Benoit; Clayton, Peter

    2015-12-01

    Meta-analysis has shown a modest improvement in first-year growth response to recombinant human GH (r-hGH) for carriers of the exon 3-deleted GH receptor (GHRd3) polymorphism but with significant interstudy variability. The associations between GHRd3 and growth response to r-hGH over 3 years in relation to severity of GH deficiency (GHD) were investigated in patients from 14 countries. Treatment-naïve pre-pubertal children with GHD were enrolled from the PREDICT studies (NCT00256126 and NCT00699855), categorized by peak GH level (peak GH) during provocation test: ≤4 μg/l (severe GHD; n=45) and >4 to <10 μg/l mild GHD; n=49) and genotyped for the GHRd3 polymorphism (full length (fl/fl, fl/d3, d3/d3). Gene expression (GE) profiles were characterized at baseline. Changes in growth (height (cm) and SDS) over 3 years were measured. There was a dichotomous influence of GHRd3 polymorphism on response to r-hGH, dependent on peak GH level. GH peak level (higher vs lower) and GHRd3 (fl/fl vs d3 carriers) combined status was associated with height change over 3 years (P<0.05). GHRd3 carriers with lower peak GH had lower growth than subjects with fl/fl (median difference after 3 years -3.3 cm; -0.3 SDS). Conversely, GHRd3 carriers with higher peak GH had better growth (+2.7 cm; +0.2 SDS). Similar patterns were observed for GH-dependent biomarkers. GE profiles were significantly different between the groups, indicating that the interaction between GH status and GHRd3 carriage can be identified at a transcriptomic level. This study demonstrates that responses to r-hGH depend on the interaction between GHD severity and GHRd3 carriage. PMID:26340968

  18. Vitamin D deficiency and its predictors in a country with thirteen months of sunshine: the case of school children in central Ethiopia.

    PubMed

    Wakayo, Tolassa; Belachew, Tefera; Vatanparast, Hassan; Whiting, Susan J

    2015-01-01

    Studies examining vitamin D status among children living in sunny climates indicated that children did not receive adequate vitamin D, however, this has not been looked at among children living in Ethiopia. In this study, we determined vitamin D deficiency and its predictors among school children aged 11-18 years, examining circulating 25-hydroxy vitamin D [25(OH)D]. The school-based cross-sectional study was conducted in schools in Adama Town (n = 89) and in rural Adama (n = 85) for a total sample of 174. Students were randomly selected using multi-stage stratified sampling method from both settings. Socioeconomic status of parents and demographic, anthropometric, sun exposure status and blood 25(OH)D levels were obtained. Vitamin D deficiency, defined as circulating levels of 25(OH)D <50 nmol/L, was found in 42% of the entire study participants. Prevalence of deficiency was significantly higher among students in urban setting compared to rural (61.8% vs 21.2%, respectively, p<0.001). After controlling for potential confounders using multivariable logistic regression model, duration of exposure to sunlight, amount of body part exposed to sunlight, place of residence, maternal education, body fatness, having TV/computer at home and socioeconomic status were significant predictors of vitamin D deficiency. The findings suggest that Vitamin D deficiency was prevalent in healthy school children living both in urban and rural areas of a country with abundant year round sunshine providing UVB, with the prevalence of deficiency being significantly higher among urban school children who were less exposed to sunlight. Behaviour change communication to enhance exposure to ultraviolet light is critical to prevent vitamin D deficiency in tropical country like Ethiopia. Further study is required to assess the deleterious effect of its deficiency on bone mineral homeostasis of growing children in Ethiopia during their most critical period of bone development. PMID:25822900

  19. Vitamin D Deficiency and Its Predictors in a Country with Thirteen Months of Sunshine: The Case of School Children in Central Ethiopia

    PubMed Central

    Wakayo, Tolassa; Belachew, Tefera; Vatanparast, Hassan; Whiting, Susan J.

    2015-01-01

    Studies examining vitamin D status among children living in sunny climates indicated that children did not receive adequate vitamin D, however, this has not been looked at among children living in Ethiopia. In this study, we determined vitamin D deficiency and its predictors among school children aged 11–18 years, examining circulating 25-hydroxy vitamin D [25(OH)D]. The school-based cross-sectional study was conducted in schools in Adama Town (n = 89) and in rural Adama (n = 85) for a total sample of 174. Students were randomly selected using multi-stage stratified sampling method from both settings. Socioeconomic status of parents and demographic, anthropometric, sun exposure status and blood 25(OH)D levels were obtained. Vitamin D deficiency, defined as circulating levels of 25(OH)D <50 nmol/L, was found in 42% of the entire study participants. Prevalence of deficiency was significantly higher among students in urban setting compared to rural (61.8% vs 21.2%, respectively, p<0.001). After controlling for potential confounders using multivariable logistic regression model, duration of exposure to sunlight, amount of body part exposed to sunlight, place of residence, maternal education, body fatness, having TV/computer at home and socioeconomic status were significant predictors of vitamin D deficiency. The findings suggest that Vitamin D deficiency was prevalent in healthy school children living both in urban and rural areas of a country with abundant year round sunshine providing UVB, with the prevalence of deficiency being significantly higher among urban school children who were less exposed to sunlight. Behaviour change communication to enhance exposure to ultraviolet light is critical to prevent vitamin D deficiency in tropical country like Ethiopia. Further study is required to assess the deleterious effect of its deficiency on bone mineral homeostasis of growing children in Ethiopia during their most critical period of bone development. PMID:25822900

  20. Hormonal Control of Fetal Growth.

    ERIC Educational Resources Information Center

    Cooke, Paul S.; Nicoll, Charles S.

    1983-01-01

    Summarizes recent research on hormonal control of fetal growth, presenting data obtained using a new method for studying the area. Effects of endocrine ablations and congenital deficiencies, studies of hormone/receptor levels, in-vitro techniques, hormones implicated in promoting fetal growth, problems with existing methodologies, and growth of…

  1. Vitamin D Deficiency in Children and Adolescents in Bağcılar, İstanbul

    PubMed Central

    Erol, Meltem; Yiğit, Özgül; Küçük, Suat Hayri; Bostan Gayret, Özlem

    2015-01-01

    Objective: This study aimed to evaluate the frequency of seasonal 25-hydroxyvitamin D [25(OH)D] deficiency and insufficiency in children and adolescents living in Bağcılar, district of İstanbul city. Methods: Serum vitamin D levels of 280 children aged 3-17 years old were measured at the end of winter and at the end of summer. Of the total group, vitamin D levels were re-measured in 198 subjects. Vitamin D deficiency was defined as a serum 25(OH)D level less than 15 ng/mL and insufficiency-as levels between 15 and 20 ng/mL. Patients whose vitamin D levels were less than 15 ng/mL at the end of winter were treated with 2000 units/day of vitamin D for 3 months. Results: In the “end of winter” samples, 25(OH)D deficiency was present in 80.36% of the subjects and insufficiency in 11.79%. In the “end of summer” samples, vitamin D deficiency was detected in 3.44% and insufficiency in 27.75%. Vitamin D levels in the “end of winter” samples were not significantly different between boys and girls, while “end of summer” levels were significantly lower in girls (p=0.015). Sunlight exposure was significantly higher in boys (p=0.011). The group with sufficient dairy product consumption had significantly higher vitamin D levels in both “end of summer” and “end of winter” samples. Limb pain was frequently reported in children with low vitamin D levels in the “end of winter” samples (p=0.001). Negative correlations were observed between vitamin D levels and season and also between vitamin D levels and age. Conclusion: It is essential to provide supplemental vitamin D to children and adolescents to overcome the deficiency seen especially at the end of winter. PMID:26316436

  2. Iron, Magnesium, Vitamin D, and Zinc Deficiencies in Children Presenting with Symptoms of Attention-Deficit/Hyperactivity Disorder

    PubMed Central

    Villagomez, Amelia; Ramtekkar, Ujjwal

    2014-01-01

    Attention-Deficit/Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder increasing in prevalence. Although there is limited evidence to support treating ADHD with mineral/vitamin supplements, research does exist showing that patients with ADHD may have reduced levels of vitamin D, zinc, ferritin, and magnesium. These nutrients have important roles in neurologic function, including involvement in neurotransmitter synthesis. The aim of this paper is to discuss the role of each of these nutrients in the brain, the possible altered levels of these nutrients in patients with ADHD, possible reasons for a differential level in children with ADHD, and safety and effect of supplementation. With this knowledge, clinicians may choose in certain patients at high risk of deficiency, to screen for possible deficiencies of magnesium, vitamin D, zinc, and iron by checking RBC-magnesium, 25-OH vitamin D, serum/plasma zinc, and ferritin. Although children with ADHD may be more likely to have lower levels of vitamin D, zinc, magnesium, and iron, it cannot be stated that these lower levels caused ADHD. However, supplementing areas of deficiency may be a safe and justified intervention. PMID:27417479

  3. Hormonal Correlates of Clozapine-Induced Weight Gain in Psychotic Children: An Exploratory Study

    ERIC Educational Resources Information Center

    Sporn, Alexandra L.; Bobb, Aaron J.; Gogtay, Nitin; Stevens, Hanna; Greenstein, Deanna K.; Clasen, Liv S.; Tossell, Julia W.; Nugent, Thomas; Gochman, Peter A.; Sharp, Wendy S.; Mattai, Anand; Lenane, Marge C.; Yanovski, Jack A.; Rapoport, Judith L.

    2005-01-01

    Objective: Weight gain is a serious side effect of atypical antipsychotics, especially in childhood. In this study, the authors examined six weight gain-related hormones in patients with childhood-onset schizophrenia (COS) after 6 weeks of clozapine treatment. Method: Fasting serum samples for 24 patients with COS and 21 matched healthy controls…

  4. Sex hormone-binding globulin and lipid profile in pubertal children.

    PubMed

    Garcés, Carmen; Oya, Iría de; Lasunción, Miguel A; López-Simón, Laura; Cano, Beatriz; de Oya, Manuel

    2010-02-01

    Men and women have different lipid profiles throughout life, related to changes in sex hormones; and this has been associated with sex-related differences in the prevalence of coronary heart disease. The influence of sex hormone changes during puberty on the lipid profile has been reported, but levels of sex hormone-binding globulin (SHBG) (the specific plasma binding protein of sex hormones) have not been evaluated even though its regulatory role might be crucial. The aim of this study was to analyze the relationship between sex hormones and SHBG and changes in plasma lipid levels during puberty. Our population-based sample included 370 healthy schoolchildren (175 male and 195 female), ranging from 12 to 15 years old. High-density lipoprotein cholesterol (HDL-C) levels were significantly lower in 15-year-olds than in younger boys, and apolipoprotein (apo) A-I levels steeply decreased across the studied age groups. Parallel to these changes, testosterone levels increased whereas SHBG decreased as age increases in boys. In girls, no significant differences were observed in these variables among the age groups. Testosterone and SHBG were highly correlated with anthropometric variables. Sex hormone-binding globulin was negatively associated with triglycerides (TG) in both sexes, remaining statistically significant after further adjustment for age and body mass index (BMI) in girls. Sex hormone-binding globulin was the only predictive variable for HDL-C and TG in multiple linear regression analysis, after adjustment by BMI, in both sexes, accounting for 10% of the variance of HDL-C in boys and for around 5% of the variance of TG in both sexes. In boys, testosterone and SHBG remained significantly correlated to apo A-I levels, even after adjusting for age and BMI, and were the most important predictive variables for apo A-I in multiple linear regression analysis. In conclusion, SHBG levels are related to a decrease in HDL-C and apo A-I levels during puberty in boys and

  5. Sex Steroid Hormone Levels and Reproductive Development of Eight-Year-Old Children following In Utero and Environmental Exposure to Phthalates

    PubMed Central

    Su, Pen-Hua; Chen, Jia-Yuh; Lin, Ching-Yi; Chen, Hsiao-Yen; Liao, Pao-Chi; Ying, Tsung-Ho; Wang, Shu-Li

    2014-01-01

    In utero exposure to phthalates may adversely affect reproductive development in children due to the anti-androgenic properties of the pthalates. Accordingly, we aimed to determine the effects of in utero and environmental phthalate exposure on the reproductive development of eight-year-old children. We recruited 180 children in central Taiwan during November 2001 and followed them until August 2009 when all children became eight years old. Birth outcomes were collected. Bone age, hormone concentrations, and reproductive developmental stages were determined. Phthalate metabolite levels, including mono-2-ethylhexyl phthalate [MEHP], mono-n-butyl phthalate [MnBP], and mono-benzyl phthalate [MBzP], were assessed. No significant gender differences were found in in utero phthalate exposure. Maternal urinary levels of phthalate metabolites did not correlate significantly with birth outcomes, physical characteristics, and reproductive hormones of the eight-year-old children. Regarding the urinary phthalate metabolite levels of the eight-year-old children, MEHP correlated significantly with serum progesterone levels. MEHP levels in girls correlated significantly with serum progesterone levels. MnBP correlated significantly with serum FSH in all children. In girls, MnBP correlated with serum FSH, and MBzP correlated with serum progesterone and FSH levels. Urinary phthalate metabolite levels did not correlate with female developmental stages or the development of female reproductive organs. Phthalate metabolites did not correlate with the physical characteristics and reproductive hormones in boys. Therefore, environmental exposure to phthalates, as determined by urinary phthalate metabolite levels of eight-year-old children, may affect reproductive hormone levels in children, indicating that further studies on the environmental health effects of phthalates are warranted. PMID:25207995

  6. [Concentration of thyrotropic hormone and free thyroxin in children with Down's syndrome].

    PubMed

    Jiménez-López, V; Arias, A; Arata-Bellabarba, G; Vivas, E; Delgado, M C; Paoli, M

    2001-06-01

    The incidence of hypothyroidism is higher among children with Down syndrome than among children in the general population. The frequency of hypothyroidism is higher in the areas of endemic goiter than in other areas. The aim of this paper was to study the concentrations of TSH and FT4 in children with Down syndrome residents of Mérida, a region of Venezuelan Andes. At the Centro de Estudio y Prevención del Retardo Mental y Alteraciones en el Desarrollo (CEPREMAD), the thyroid function was studied in 48 children (1 month to 6 years old), who had Down syndrome, and in 123 healthy children of similar ages. All the children were referred to the Center for thyroid function evaluation. Two (4.2%) of the 48 children with Down syndrome had congenital hypothyroidism and 22 (45.8%) had subclinical hypothyroidism (high concentration of thyrotropin-TSH). Among the control children, only 14% had elevated levels of TSH. There were no differences in relation to the gender. In conclusion in children with Down syndrome, the frequency of high concentrations of TSH was three times higher than the frequency among the healthy children. The frequency of hypothyroidism was similar to that found in areas without endemic goiter. PMID:11416978

  7. Iron-Deficiency Anemia (For Parents)

    MedlinePlus

    ... Things to Know About Zika & Pregnancy Iron-Deficiency Anemia KidsHealth > For Parents > Iron-Deficiency Anemia Print A ... common nutritional deficiency in children. About Iron-Deficiency Anemia Every red blood cell in the body contains ...

  8. Reducing Iron Deficiency in 18-36-months-old US Children: Is the Solution Less Calcium?

    PubMed

    Kerling, Elizabeth H; Souther, Laura M; Gajewski, Byron J; Sullivan, Debra K; Georgieff, Michael K; Carlson, Susan E

    2016-09-01

    Objectives National surveys consistently identify iron deficiency (ID) in US children between 1 and 3 years of age, when the brain is rapidly developing and vulnerable to the effects of ID. However, controversy remains as to how best to recognize and prevent ID in young children, in part because of the multiple potential etiologies. The objective of this project was to assess ID in children and identify potential individual dietary predictors of status. Methods We examined three biomarkers of ID [soluble transferrin receptor (sTfR) and serum ferritin (SF), and body iron (calculated from sTfR and SF)] against parent-provided dietary calcium and iron intake for eight-three 18-36 month old children from middle class families. Results Using literature-based cutoffs, fourteen children (16.9 %) had at least one indicator of ID: low SF(<10 μg/l, 7.2 %), negative body iron (<0 mg/kg, 7.2 %) or elevated sTfR (>8.4 μg/ml, 13.2 %). All children consumed more than the Dietary Reference Intake (DRI) Estimated Average Requirement of 3 mg/d iron. The mean iron intake of children identified with ID approximated the Recommended Dietary Allowance of 7 mg/d. Most children (81 %) consumed above the DRI Adequate Intake of 500 mg/d of calcium. Calcium intakes were generally high and predicted lower body iron (p = 0.0005), lower SF (p = 0.0086) and higher sTfR (p = 0.0176). Conclusions for Practice We found rates of ID similar to US national averages. Dietary calcium intake predicted lower iron status more than deficits in iron intake. Teaching parents to balance calcium and iron intake in toddlers could be a strategy to prevent ID. PMID:26987860

  9. Micronutrient Deficiencies Are Common in 6- to 8-Year-Old Children of Rural Nepal, with Prevalence Estimates Modestly Affected by Inflammation12

    PubMed Central

    Schulze, Kerry J.; Christian, Parul; Wu, Lee S.-F.; Arguello, Margia; Cui, Hongjie; Nanayakkara-Bind, Ashika; Stewart, Christine P.; Khatry, Subarna K.; LeClerq, Steven; West, Keith P.

    2014-01-01

    Subclinical micronutrient deficiencies remain a hidden aspect of malnutrition for which comprehensive data are lacking in school-aged children. We assessed the micronutrient status of Nepalese children, aged 6 to 8 y, born to mothers who participated in a community-based antenatal micronutrient supplementation trial from 1999 to 2001. Of 3305 participants, plasma indicators were assessed in a random sample of 1000 children. Results revealed deficiencies of vitamins A (retinol <0.70 μmol/L, 8.5%), D (25-hydroxyvitamin D <50 nmol/L, 17.2%), E (α-tocopherol <9.3 μmol/L, 17.9%), K (decarboxy prothombin >2 μg/L, 20%), B-12 (cobalamin <150 pmol/L, 18.1%), B-6 [pyridoxal-5′-phosphate (PLP) <20 nmol/L, 43.1%], and β-carotene (41.5% <0.09 μmol/L), with little folate deficiency (6.2% <13.6 nmol/L). Deficiencies of iron [ferritin <15 μg/L, 10.7%; transferrin receptor (TfR) >8.3 mg/L, 40.1%; TfR:ferritin >500 μg/μg, 14.3%], iodine (thyroglobulin >40 μg/L, 11.4%), and selenium (plasma selenium <0.89 μmol/L, 59.0%) were observed, whereas copper deficiency was nearly absent (plasma copper <11.8 μmol/L, 0.7%). Hemoglobin was not assessed. Among all children, 91.7% experienced at least 1 micronutrient deficiency, and 64.7% experienced multiple deficiencies. Inflammation (α-1 acid glycoprotein >1 g/L, C-reactive protein >5 mg/L, or both) was present in 31.6% of children, affecting the prevalence of deficiency as assessed by retinol, β-carotene, PLP, ferritin, TfR, selenium, copper, or having any or multiple deficiencies. For any nutrient, population deficiency prevalence estimates were altered by ≤5.4% by the presence of inflammation, suggesting that the majority of deficiencies exist regardless of inflammation. Multiple micronutrient deficiencies coexist in school-aged children in rural Nepal, meriting more comprehensive strategies for their assessment and prevention. PMID:24744314

  10. Micronutrient deficiencies are common in 6- to 8-year-old children of rural Nepal, with prevalence estimates modestly affected by inflammation.

    PubMed

    Schulze, Kerry J; Christian, Parul; Wu, Lee S F; Arguello, Margia; Cui, Hongjie; Nanayakkara-Bind, Ashika; Stewart, Christine P; Khatry, Subarna K; LeClerq, Steven; West, Keith P

    2014-06-01

    Subclinical micronutrient deficiencies remain a hidden aspect of malnutrition for which comprehensive data are lacking in school-aged children. We assessed the micronutrient status of Nepalese children, aged 6 to 8 y, born to mothers who participated in a community-based antenatal micronutrient supplementation trial from 1999 to 2001. Of 3305 participants, plasma indicators were assessed in a random sample of 1000 children. Results revealed deficiencies of vitamins A (retinol <0.70 μmol/L, 8.5%), D (25-hydroxyvitamin D <50 nmol/L, 17.2%), E (α-tocopherol <9.3 μmol/L, 17.9%), K (decarboxy prothombin >2 μg/L, 20%), B-12 (cobalamin <150 pmol/L, 18.1%), B-6 [pyridoxal-5'-phosphate (PLP) <20 nmol/L, 43.1%], and β-carotene (41.5% <0.09 μmol/L), with little folate deficiency (6.2% <13.6 nmol/L). Deficiencies of iron [ferritin <15 μg/L, 10.7%; transferrin receptor (TfR) >8.3 mg/L, 40.1%; TfR:ferritin >500 μg/μg, 14.3%], iodine (thyroglobulin >40 μg/L, 11.4%), and selenium (plasma selenium <0.89 μmol/L, 59.0%) were observed, whereas copper deficiency was nearly absent (plasma copper <11.8 μmol/L, 0.7%). Hemoglobin was not assessed. Among all children, 91.7% experienced at least 1 micronutrient deficiency, and 64.7% experienced multiple deficiencies. Inflammation (α-1 acid glycoprotein >1 g/L, C-reactive protein >5 mg/L, or both) was present in 31.6% of children, affecting the prevalence of deficiency as assessed by retinol, β-carotene, PLP, ferritin, TfR, selenium, copper, or having any or multiple deficiencies. For any nutrient, population deficiency prevalence estimates were altered by ≤5.4% by the presence of inflammation, suggesting that the majority of deficiencies exist regardless of inflammation. Multiple micronutrient deficiencies coexist in school-aged children in rural Nepal, meriting more comprehensive strategies for their assessment and prevention. PMID:24744314

  11. Hormone levels

    MedlinePlus

    Blood or urine tests can determine the levels of various hormones in the body. This includes reproductive hormones, thyroid hormones, adrenal hormones, pituitary hormones, and many others. For more information, see: ...

  12. Iron deficiency.

    PubMed

    Scrimshaw, N S

    1991-10-01

    The world's leading nutritional problem is iron deficiency. 66% of children and women aged 15-44 years in developing countries have it. Further, 10-20% of women of childbearing age in developed countries are anemic. Iron deficiency is identified with often irreversible impairment of a child's learning ability. It is also associated with low capacity for adults to work which reduces productivity. In addition, it impairs the immune system which reduces the body's ability to fight infection. Iron deficiency also lowers the metabolic rate and the body temperature when exposed to cold. Hemoglobin contains nearly 73% of the body's iron. This iron is always being recycled as more red blood cells are made. The rest of the needed iron does important tasks for the body, such as binds to molecules that are reservoirs of oxygen for muscle cells. This iron comes from our diet, especially meat. Even though some plants, such as spinach, are high in iron, the body can only absorb 1.4-7% of the iron in plants whereas it can absorb 20% of the iron in red meat. In many developing countries, the common vegetarian diets contribute to high rates of iron deficiency. Parasitic diseases and abnormal uterine bleeding also promote iron deficiency. Iron therapy in anemic children can often, but not always, improve behavior and cognitive performance. Iron deficiency during pregnancy often contributes to maternal and perinatal mortality. Yet treatment, if given to a child in time, can lead to normal growth and hinder infections. However, excess iron can be damaging. Too much supplemental iron in a malnourished child promotes fatal infections since the excess iron is available for the pathogens use. Many countries do not have an effective system for diagnosing, treating, and preventing iron deficiency. Therefore a concerted international effort is needed to eliminate iron deficiency in the world. PMID:1745900

  13. Heritability of hyperphagic eating behavior and appetite-related hormones among Hispanic children

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Eating in the absence of hunger (EAH) may be a genetically influenced phenotype of overweight children, but evidence is limited. This research evaluated the heritability (h2) of EAH and its association with overweight among Hispanic children 5 to 18 years old. Genetic and environmental associations ...

  14. Assessment of diagnostic and therapeutic approaches of Helicobacter pylori-associated iron deficiency and anemia in children with dyspeptic symptoms.

    PubMed

    El-Aziz Awad, Mohiee El-Deen; Amin, Saleh Mohamed; Abdou, Saied Mohamed

    2014-12-01

    This study assessed the diagnostic approaches of Helicobacter pylori (IP)-associated iron deficiency (ID) and anemia (IDA) in children with dyspeptic symptoms and evaluated the effect of simultaneous anti-H. pylori (anti-HIP) therapy and oral iron in comparison with each of anti? HP therapy and oral iron therapy alone, on iron status as assessed by serum soluble transferrin receptor (sTfR) level. Two hundreds children with dyspeptic symptoms were subjected to clinical evaluation, stool examination, CBC, biochemical assays for serum iron parameters and measurements of serum IgG antibodies to HP and serum sTfR level by ELISA. Sixty children were found to have HP. associated ID or IDA and were randomly divided into 3 groups (20 children each). GA received 2-week anti-HP therapy plus 90-day oral iron, and GB received 2-week anti-HP therapy alone whereas group C received 90-day oral iron alone. Re-evaluation of the 3 groups was performed after 3 months of treatment initiation by repeat CBC and serum sTfR level. Children (45%) were HP-seropositive. The mean values of serum sTfR were significantly higher in HP-positive group and in HP-positive children with IDA than in HP-negative group and in HP-negative children with IDA although no significant differences were noted in hematologic variables and iron parameters between the corresponding groups and children. As regard treatment groups, there were significant improvements in the mean values of indices of IDA status (HIb, MCH, MCV, sTfR) and ID status (sTtRi) at 3 months of treatment initiation compared with their baseline values after. anti-HP triple therapy either with oral iron or without oral iron whereas the control children who were treated with oral iron alone showed insignificant changes despite oral iron administration. The improvements in these parameters were significantly greater in groups of children who received anti-HP therapy either combined with iron or alone, where compared with those who did not receive

  15. An inflection point of serum 25-hydroxyvitamin D for maximal suppression of parathyroid hormone is not evident from multi-site pooled data in children and adolescents

    Technology Transfer Automated Retrieval System (TEKTRAN)

    In adults, maximal suppression of serum parathyroid hormone (PTH) has commonly been used to determine the sufficiency of serum 25-hydroxyvitamin D [25(OH) D]. In children and adolescents, the relationship between serum 25(OH) D and PTH is less clear, and most studies reporting a relationship are der...

  16. Genetic Hemoglobin Disorders, Infection, and Deficiencies of Iron and Vitamin A Determine Anemia in Young Cambodian Children123

    PubMed Central

    George, Joby; Yiannakis, Miriam; Main, Barbara; Devenish, Robyn; Anderson, Courtney; An, Ung Sam; Williams, Sheila M.; Gibson, Rosalind S.

    2012-01-01

    In Cambodia, many factors may complicate the detection of iron deficiency. In a cross-sectional survey, we assessed the role of genetic hemoglobin (Hb) disorders, iron deficiency, vitamin A deficiency, infections, and other factors on Hb in young Cambodian children. Data on sociodemographic status, morbidity, and growth were collected from children (n = 3124) aged 6 to 59 mo selected from 3 rural provinces and Phnom Penh municipality. Blood samples were collected (n = 2695) for complete blood count, Hb type (by DNA analysis), ferritin, soluble transferrin receptor (sTfR), retinol-binding protein (RBP), C-reactive protein, and α1-acid glycoprotein (AGP). Genetic Hb disorders, anemia, and vitamin A deficiency were more common in rural than in urban provinces (P < 0.001): 60.0 vs. 40.0%, 58.2 vs. 32.7%, and 7.4 vs. 3.1%, respectively. Major determinants of Hb were age group, Hb type, ferritin, sTfR, RBP, AGP >1.0 g/L (P < 0.001), and rural setting (P < 0.05). Age group, Hb type, RBP, elevated AGP, and rural setting also influenced ferritin and sTfR (P < 0.02). Multiple factors affected anemia status, including the following: age groups 6–11.99 mo (OR: 6.1; 95% CI: 4.3, 8.7) and 12–23.99 mo (OR: 2.7; 95% CI: 2.1, 3.6); Hb type, notably Hb EE (OR: 18.5; 95% CI: 8.5, 40.4); low ferritin (OR: 3.2; 95% CI: 2.2, 4.7); elevated AGP (OR: 1.4; 95% CI: 1.2,1.7); rural setting (OR: 2.3; 95% CI: 1.7, 3.1); low RBP (OR: 3.6; 95% CI: 2.2, 5.9); and elevated sTfR (OR: 2.1; 95% CI: 1.7, 2.7). In Cambodia, where a high prevalence of genetic Hb disorders exists, ferritin and sTfR are of limited use for assessing the prevalence of iron deficiency. New low-cost methods for detecting genetic Hb disorders are urgently required. PMID:22378325

  17. Pulsatile growth hormone release in Turner's syndrome and short normal children.

    PubMed

    Ghizzoni, L; Lamborghini, A; Ziveri, M; Volta, C; Panza, C; Balestrazzi, P; Bernasconi, S

    1990-09-01

    To determine whether the quantitative and qualitative aspects of GH secretion in girls with Turner's syndrome are similar to those of short-normal children we studied the 24-h GH secretion of 10 patients with Turner's syndrome and 9 short-normal children with comparable auxological features. GH profiles, obtained by 30-min sampling, were analysed by the Pulsar programme. The pulsatile GH release over the 24 h in Turner's syndrome was similar to that in normal children. However, when the GH release over the 12 day and night hours were separately analysed, only normal children showed a night-time increase in the sum of peak amplitudes. Moreover, patients with Turner's syndrome had significantly decreased number and frequency of peaks in the night-time compared with short children. In short-normal children but not in Turner's syndrome, height velocity was related to the 24-h integrated concentration of GH, area under the curve over zero-line and over baseline, sum of peak areas, and amplitudes. Night-time GH area over zero-line and over baseline, mean peak amplitude, height area, sum of peak area and amplitudes were positively correlated with height velocity in short children, whereas in Turner's syndrome height velocity was related to daytime parameters only. In conclusion, girls with Turner's syndrome have a discrete pattern of pulsatile GH release. However, the relation of GH secretion to growth in these patients, is uncertain. PMID:2239077

  18. Comparison of indicators of iron deficiency in Kenyan children1–6

    PubMed Central

    Grant, Frederick KE; Martorell, Reynaldo; Flores-Ayala, Rafael; Cole, Conrad R; Ruth, Laird J; Ramakrishnan, Usha; Suchdev, Parminder S

    2015-01-01

    Background In the absence of a feasible, noninvasive gold standard, iron deficiency (ID) is best measured by the use of multiple indicators. However, the choice of an appropriate single iron biomarker to replace the multiple-criteria model for screening for ID at the population level continues to be debated. Objective We compared ID defined as ≥2 of 3 abnormal ferritin (<12 μg/L), soluble transferrin receptor (TfR; >8.3 mg/L), or zinc protoporphyrin (ZP; >80 μmol/mol) concentrations (ie, multiple-criteria model) with ID defined by abnormal concentrations of any of the independent candidate iron biomarkers (ferritin alone, TfR alone, or ZP alone) and TfR/ferritin index (ID, >500). Values either were adjusted for inflammation [as measured by C-reactive protein (>5 mg/L) and α1-acid glycoprotein (>1 g/L) before applying cutoffs for ID] or were unadjusted. Design In this community-based cluster survey, capillary blood was obtained from 680 children (aged 6–35 mo) for measurement of iron status by using ferritin, TfR, and ZP. Results On the basis of the multiple-criteria model, the mean (±SE) prevalence of ID was 61.9 ± 2.2%, whereas the prevalences based on abnormal ferritin, TfR, or ZP concentrations or an abnormal TfR/ferritin index were 26.9 ± 1.7%, 60.9 ± 2.2%, 82.8 ± 1.6%, and 43.1 ± 2.3%, respectively, for unadjusted values. The prevalences of ID were higher for adjusted values only for low ferritin and an elevated TfR/ferritin index compared with the unadjusted values. The κ statistics for agreement between the multiple-criteria model and the other iron indicators ranged from 0.35 to 0.88; TfR had the best agreement (κ = 0.88) with the multiple-criteria model. Positive predictive values of ID based on the other iron indicators in predicting ID based on the multiple-criteria model were highest for ferritin and TfR. Receiver operating characteristic curve analysis indicated that TfR (AUC = 0.94) was superior to the other indicators in diagnosing ID

  19. Hormonal and Cardiac Response of Autistic Children to Changes in Environmental Stimulation.

    ERIC Educational Resources Information Center

    Graveling, R. A.; Brooke, J. D.

    1978-01-01

    A study was made of physiological responses of five autistic children (mean age seven years six months) to variations in environmental load in order to examine the under- vs over-arousal dichotomy. (Author)

  20. Anemia, Micronutrient Deficiencies, and Malaria in Children and Women in Sierra Leone Prior to the Ebola Outbreak - Findings of a Cross-Sectional Study

    PubMed Central

    Wirth, James P; Rohner, Fabian; Woodruff, Bradley A; Chiwile, Faraja; Yankson, Hannah; Koroma, Aminata S; Russel, Feimata; Sesay, Fatmata; Dominguez, Elisa; Petry, Nicolai; Shahab-Ferdows, Setareh; de Onis, Mercedes; Hodges, Mary H

    2016-01-01

    To identify the factors associated with anemia and to document the severity of micronutrient deficiencies, malaria and inflammation, a nationally representative cross-sectional survey was conducted. A three-stage sampling procedure was used to randomly select children <5 years of age and adult women from households in two strata (urban and rural). Household and individual data were collected, and blood samples from children and women were used to measure the prevalence of malaria, inflammation, and deficiencies of iron, vitamin A, folate, and vitamin B12. 839 children and 945 non-pregnant women were included in the survey. In children, the prevalence rates of anemia (76.3%; 95% CI: 71.8, 80.4), malaria (52.6%; 95% CI: 46.0, 59.0), and acute and chronic inflammation (72.6%; 95% CI: 67.5, 77.1) were high. However, the prevalence of vitamin A deficiency (17.4%; 95% CI: 13.9, 21.6) was moderate, and the prevalence of iron deficiency (5.2%; 95% CI: 3.3, 8.1) and iron-deficiency anemia (3.8%; 95% CI: 2.5, 5.8) were low. Malaria and inflammation were associated with anemia, yet they explained only 25% of the population-attributable risk. In women, 44.8% (95% CI: 40.1, 49.5), 35.1% (95% CI: 30.1, 40.4), and 23.6% (95% CI: 20.4, 27.3) were affected by anemia, malaria, or inflammation, respectively. The prevalence rates of iron deficiency (8.3%; 95% CI: 6.2, 11.1), iron-deficiency anemia (6.1%; 95% CI: 4.4, 8.6), vitamin A deficiency (2.1%; 95% CI: 1.1, 3.1) and vitamin B12 deficiency (0.5%; 95% CI: 0.2, 1.4) were low, while folate deficiency was high (79.2%; 95% CI: 74.1, 83.5). Iron deficiency, malaria, and inflammation were significantly associated with anemia, but explained only 25% of cases of anemia. Anemia in children and women is a severe public health problem in Sierra Leone. Since malaria and inflammation only contributed to 25% of anemia, other causes of anemia, such as hemoglobinopathies, should also be explored. PMID:27163254

  1. Anemia, Micronutrient Deficiencies, and Malaria in Children and Women in Sierra Leone Prior to the Ebola Outbreak - Findings of a Cross-Sectional Study.

    PubMed

    Wirth, James P; Rohner, Fabian; Woodruff, Bradley A; Chiwile, Faraja; Yankson, Hannah; Koroma, Aminata S; Russel, Feimata; Sesay, Fatmata; Dominguez, Elisa; Petry, Nicolai; Shahab-Ferdows, Setareh; de Onis, Mercedes; Hodges, Mary H

    2016-01-01

    To identify the factors associated with anemia and to document the severity of micronutrient deficiencies, malaria and inflammation, a nationally representative cross-sectional survey was conducted. A three-stage sampling procedure was used to randomly select children <5 years of age and adult women from households in two strata (urban and rural). Household and individual data were collected, and blood samples from children and women were used to measure the prevalence of malaria, inflammation, and deficiencies of iron, vitamin A, folate, and vitamin B12. 839 children and 945 non-pregnant women were included in the survey. In children, the prevalence rates of anemia (76.3%; 95% CI: 71.8, 80.4), malaria (52.6%; 95% CI: 46.0, 59.0), and acute and chronic inflammation (72.6%; 95% CI: 67.5, 77.1) were high. However, the prevalence of vitamin A deficiency (17.4%; 95% CI: 13.9, 21.6) was moderate, and the prevalence of iron deficiency (5.2%; 95% CI: 3.3, 8.1) and iron-deficiency anemia (3.8%; 95% CI: 2.5, 5.8) were low. Malaria and inflammation were associated with anemia, yet they explained only 25% of the population-attributable risk. In women, 44.8% (95% CI: 40.1, 49.5), 35.1% (95% CI: 30.1, 40.4), and 23.6% (95% CI: 20.4, 27.3) were affected by anemia, malaria, or inflammation, respectively. The prevalence rates of iron deficiency (8.3%; 95% CI: 6.2, 11.1), iron-deficiency anemia (6.1%; 95% CI: 4.4, 8.6), vitamin A deficiency (2.1%; 95% CI: 1.1, 3.1) and vitamin B12 deficiency (0.5%; 95% CI: 0.2, 1.4) were low, while folate deficiency was high (79.2%; 95% CI: 74.1, 83.5). Iron deficiency, malaria, and inflammation were significantly associated with anemia, but explained only 25% of cases of anemia. Anemia in children and women is a severe public health problem in Sierra Leone. Since malaria and inflammation only contributed to 25% of anemia, other causes of anemia, such as hemoglobinopathies, should also be explored. PMID:27163254

  2. Characterization of serum platelet-activating factor (PAF) acetylhydrolase. Correlation between deficiency of serum PAF acetylhydrolase and respiratory symptoms in asthmatic children.

    PubMed Central

    Miwa, M; Miyake, T; Yamanaka, T; Sugatani, J; Suzuki, Y; Sakata, S; Araki, Y; Matsumoto, M

    1988-01-01

    Platelet-activating factor (PAF) acetylhydrolase has been recognized as an enzyme that inactivates PAF. We developed a convenient and reproducible method for determining human serum PAF acetylhydrolase activity. The assay was based on measurement of [14C]acetate produced from 1-O-alkyl-2-[14C]-acetyl-sn-glycero-3-phosphocholine upon precipitation of the complex of radioactive substrate and albumin with TCA. The apparent Km value of PAF acetylhydrolase (near the physiological concentration of serum protein) was 1.5 X 10(-4) M PAF. 32 subjects with serum PAF acetylhydrolase deficiency were found among 816 healthy Japanese adults. The low PAF acetylhydrolase activity in the deficient serum might not be due to the presence of enzyme inhibitor. Both the sensitivity to PAF and the metabolism of PAF in platelets from PAF acetylhydrolase-deficient subjects were almost the same as those of normal subjects. Deficiency in serum PAF acetylhydrolase appeared to be transmitted by autosomal recessive heredity among five Japanese families. Among healthy adults, healthy children, and asthmatic children, who were grouped into five classes on the basis of respiratory symptoms (remission, wheezy, mild, moderate, and severe groups), the probability of PAF acetylhydrolase deficiency was significantly higher in groups with severe symptoms (moderate and severe) (P less than 0.01). These results suggest that deficiency of serum PAF acetylhydrolase might be one of the factors leading to severe respiratory symptoms in asthmatic children. Images PMID:3198761

  3. Zinc deficiency in children with environmental enteropathy - development of new strategies: Report from an expert workshop

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Zinc deficiency is a major cause of childhood morbidity and mortality. The WHO/UNICEF strategy for zinc supplementation as adjunctive therapy for diarrhea is poorly implemented. A conference of experts in zinc nutrition and gastrointestinal disorders was convened to consider approaches that might co...

  4. Iodine deficiency in pregnancy: the effect on neurodevelopment in the child.

    PubMed

    Skeaff, Sheila A

    2011-02-01

    Iodine is an integral part of the thyroid hormones, thyroxine (T(4)) and tri-iodothyronine (T(3)), necessary for normal growth and development. An adequate supply of cerebral T(3), generated in the fetal brain from maternal free T(4) (fT(4)), is needed by the fetus for thyroid hormone dependent neurodevelopment, which begins in the second half of the first trimester of pregnancy. Around the beginning of the second trimester the fetal thyroid also begins to produce hormones but the reserves of the fetal gland are low, thus maternal thyroid hormones contribute to total fetal thyroid hormone concentrations until birth. In order for pregnant women to produce enough thyroid hormones to meet both her own and her baby's requirements, a 50% increase in iodine intake is recommended. A lack of iodine in the diet may result in the mother becoming iodine deficient, and subsequently the fetus. In iodine deficiency, hypothyroxinemia (i.e., low maternal fT(4)) results in damage to the developing brain, which is further aggravated by hypothyroidism in the fetus. The most serious consequence of iodine deficiency is cretinism, characterised by profound mental retardation. There is unequivocal evidence that severe iodine deficiency in pregnancy impairs brain development in the child. However, only two intervention trials have assessed neurodevelopment in children of moderately iodine deficient mothers finding improved neurodevelopment in children of mothers supplemented earlier rather than later in pregnancy; both studies were not randomised and were uncontrolled. Thus, there is a need for well-designed trials to determine the effect of iodine supplementation in moderate to mildly iodine deficient pregnant women on neurodevelopment in the child. PMID:22254096

  5. Home-based subcutaneous immunoglobulin G replacement therapy under real-life conditions in children and adults with antibody deficiency

    PubMed Central

    2010-01-01

    Background Subcutaneous immunoglobulin (SCIG) therapy is an alternative to intravenous immunoglobulin (IVIG) therapy. Methods We evaluated the efficacy and safety of the SCIG Vivaglobin® (formerly known as Beriglobin® SC) under real-life conditions in a post-marketing observational study in 82 patients with primary or secondary antibody deficiencies. Health-related quality of life (HRQoL) was evaluated in a subset of 30 patients previously treated with IVIG (including 11 children < 14 years) using the Short Form 36 (SF-36) for patients ≥ 14 years of age (adults) and the Child Health Questionnaire - Parental Form 50 (CHQ-PF50) for children < 14 years of age. Treatment preferences were assessed in adults. Results The mean serum immunoglobulin G (IgG) trough level during SCIG treatment (7.5 g/L) was higher than during previous IVIG treatment (6.6 g/L; p < 0.01). The investigators assessed the efficacy of SCIG therapy as "excellent" in 89% of patients. No systemic adverse drug reactions were observed. Improvements by ≥ 5 points were observed in 5 of 8 SF36 subscales and in 6 of 12 CHQ-PF50 subscales. Statistically significant improvements (p ≤ 0.05) were observed for the SF-36 subscales of bodily pain, general health perceptions, and vitality (adults), and for the CHQ-PF50 subscales of general health perceptions, parental impact - time, parental impact - emotional, and family activities (children). Patients preferred SCIG over IVIG therapy (92%) and home therapy over therapy at the clinic/physician (83%). Conclusion This study confirms that therapy with Vivaglobin® at home is effective, safe, well tolerated, and improves quality of life in patients with antibody deficiency. PMID:20696632

  6. Deficient Orthographic and Phonological Representations in Children with Dyslexia Revealed by Brain Activation Patterns

    ERIC Educational Resources Information Center

    Cao, Fan; Bitan, Tali; Chou, Tai-Li; Burman, Douglas D.; Booth, James R.

    2006-01-01

    Background: The current study examined the neuro-cognitive network of visual word rhyming judgment in 14 children with dyslexia and 14 age-matched control children (8- to 14-year-olds) using functional magnetic resonance imaging (fMRI). Methods: In order to manipulate the difficulty of mapping orthography to phonology, we used conflicting and…

  7. Vitamin D deficiency in critically ill children: A roadmap to interventional research

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Two studies published this month in Pediatrics provide new and unique information regarding the relationship between vitamin D status and critical illnesses in children admitted to PICUs in the United States and Canada. These two studies, from Boston Children's Hospital and six PICUs in Canada, demo...

  8. Production Deficiencies in Elicited Language but Not in the Spontaneous Verbalizations of Hyperactive Children.

    ERIC Educational Resources Information Center

    Zentall, Sydney S.

    1988-01-01

    Twenty-two hyperactive children were more spontaneously talkative than controls during transitions and nonverbal tasks (nonelicited conditions), but less talkative when asked to tell stories (elicited conditions). Findings suggest that minimal stimulus input precipitate excessive verbal activity from hyperactive children, while stories requiring…

  9. Electro-oculographic recordings reveal reading deficiencies in learning disabled children.

    PubMed

    Poblano, A; Córdoba de Caballero, B; Castillo, I; Cortés, V

    1996-01-01

    This study was undertaken in order to learn the functional differences in reading tasks between two groups of children: those identified as learning disabled and a group of control children. During the earliest stages of learning to read, children adopt a logographic strategy, in which letter order is ignored and phonologic factors are secondary. The children later move into an alphabetic and then to an orthographic reading stage. Reading strategies can be studied by electro-oculographic (EOG) recordings during text reading. This investigation uses EOG to study text reading time, and number of saccadic and regressive movements, to test if learning disabled children show altered strategies on text reading. Nineteen learning disabled and thirteen control subjects were included in the study. Learning disabled children showed longer text reading time, and greater number of saccadic and regressive eye movements. Electro-oculographic recording is not a test customarily performed on learning disabled children. However, our results concerning the dynamic discriminative reading have shown that it can be a useful tool for the examination of learning disabled children. PMID:8987186

  10. Growth hormone significantly increases the adult height of children with idiopathic short stature: comparison of subgroups and benefit

    PubMed Central

    2014-01-01

    Background Children with Idiopathic Short Stature do not attain a normal adult height. The improvement of adult height with treatment with recombinant human growth hormone (rhGH), at doses of 0.16 to 0.28 mg/kg/week is modest, usually less that 4 cm, and they remain short as adults. The benefit obtained seems dose dependent and benefits of 7.0 to 8.0 cm have been reported with higher doses of 0.32 to 0.4 mg/kg/week, but the number of studies is limited. The topic has remained controversial. Objective The objective was to conduct a retrospective analysis of our experience with 123 children with ISS treated with 0.32 ± 0.03 mg/kg/week of rhGH, with the aim of comparing the different subgroups of non-familial short stature, familial short stature, normal puberty, and delayed puberty and to assess the benefit by comparison with 305 untreated historical controls, from nine different randomized and nonrandomized controlled studies. Results Eighty eight of our children (68 males and 20 females) attained an adult height or near adult height of -0.71 SDS (0.74 SD) (95% CI, -0.87 to -0.55) with a benefit over untreated controls of 9.5 cm (7.4 to 11.6 cm) for males and 8.6 cm (6.7 to 10.5 cm) for females. In the analysis of the subgroups, the adult height and adult height gain of children with non-familial short stature were significantly higher than of familial short stature. No difference was found in the cohorts with normal or delayed puberty in any of the subgroups, except between the non-familial short stature and familial short stature puberty cohorts. This has implications for the interpretation of the benefit of treatment in studies where the number of children with familial short stature in the controls or treated subjects is not known. The treatment was safe. There were no significant adverse events. The IGF-1 values were essentially within the levels expected for the stages of puberty. Conclusion Our experience was quite positive with normalization of

  11. Hormonal therapies in acne.

    PubMed

    Shaw, James C

    2002-07-01

    Hormones, in particular androgen hormones, are the main cause of acne in men, women, children and adults, in both normal states and endocrine disorders. Therefore, the use of hormonal therapies in acne is rational in concept and gratifying in practice. Although non-hormonal therapies enjoy wide usage and continue to be developed, there is a solid place for hormonal approaches in women with acne, especially adult women with persistent acne. This review covers the physiological basis for hormonal influence in acne, the treatments that are in use today and those that show promise for the future. The main treatments to be discussed are oral contraceptives androgen receptor blockers like spironolactone and flutamide, inhibitors of the enzyme 5 alpha-reductase and topical hormonal treatments. PMID:12083987

  12. Human growth hormone.

    PubMed

    Strobl, J S; Thomas, M J

    1994-03-01

    The study of human growth hormone is a little more than 100 years old. Growth hormone, first identified for its dramatic effect on longitudinal growth, is now known to exert generalized effects on protein, lipid, and carbohydrate metabolism. Additional roles for growth hormone in human physiology are likely to be discovered in the areas of sleep research and reproduction. Furthermore, there is some indication that growth hormone also may be involved in the regulation of immune function, mental well-being, and the aging process. Recombinant DNA technology has provided an abundant and safe, albeit expensive, supply of human growth hormone for human use, but the pharmacological properties of growth hormone are poor. Most growth hormone-deficient individuals exhibit a secretory defect rather than a primary defect in growth hormone production, however, and advances in our understanding of the neuroendocrine regulation of growth hormone secretion have established the basis for the use of drugs to stimulate release of endogenously synthesized growth hormone. This promises to be an important area for future drug development. PMID:8190748

  13. [Vitamin A deficiency and the anthropometric nutritional status of urban and rural marginalized children in the state of Zulia, Venezuela].

    PubMed

    Amaya-Castellanos, Daisy; Viloria-Castejón, Haydée; Ortega, Pablo; Gómez, Gisela; Urrieta, Jesús R; Lobo, Pablo; Estévez, Jesús

    2002-06-01

    The present transversal study was carried out to estimate the prevalence of both vitamin A deficiency (VAD) and protein-energy malnutrition among children (24 to 85 months) from three urban slums (n = 173) in Maracaibo city, Zulia State, Venezuela and a rural slum area (n = 34), vieinal to Maracaibo, by measuring serum retinol and z score of anthropometric indices Height//Age (H//AZ); Weight//Age (W//AZ) and Weight//Height (W//HZ), compared to NCHS-WHO reference values. The Graffar's methodology adapted to Venezuela by Méndez Castellano (1986) confirmed the underprivileged socio-economic condition of the children population. For serum retinol analysis, peripheral venous blood was drawn and serum was treated according to the Bieri et al. (1979) technique and HPLC procedure. Values were recorded in microgram/dL. Statistical analysis was done by using Epi Info 2000, release 1.0 and SAS release 6.0 (1996) computer programs. The prevalence of VAD (serum retinol < 20 micrograms/dL) in the total children population (n = 207) was 22.2%, being higher in urban children than in rural children (22.5% vs 20.5%). No clinical signs of VAD were detected in the children. The nutritional status analysed by Z score of anthropometric indices revealed that 27.4% of children suffered from undernutrition (Z score = -2 to > -3 SD), being 15.4% stunted, 9.6% wasted and 2.6% with acute protein-energy malnutrition. Neither severe malnutrition nor overweight were detected. According with the H//AZ index, 54.6% of children had adequate nutrition. However 23% of them suffered from VAD. In children at risk of developing undernutrition (Z score = -1 to > -2 SD), 20.9% had VAD and of the stunted children, 21.9% presented VAD. With W//AZ, 60.3%, 29.9% and 9.1% of children were with adequate nutrition, at risk, or wasted respectively; of each group, 25.6%, 17.7% and 15%, respectively had serum retinol values below 20 micrograms/dL. The Z score of W//HZ indicator revealed that 87.4%, 10.4% and 2

  14. Micronutrient Deficiencies and Related Factors in School-Aged Children in Ethiopia: A Cross-Sectional Study in Libo Kemkem and Fogera Districts, Amhara Regional State

    PubMed Central

    Herrador, Zaida; Sordo, Luis; Gadisa, Endalamaw; Buño, Antonio; Gómez-Rioja, Rubén; Iturzaeta, Jose Manuel; de Armas, Lisset Fernandez; Benito, Agustín; Aseffa, Abraham; Moreno, Javier; Cañavate, Carmen; Custodio, Estefania

    2014-01-01

    Introduction The present study describes the distribution of selected micronutrients and anaemia among school-aged children living in Libo Kemkem and Fogera (Amhara State, Ethiopia), assessing differences by socio-demographic characteristics, health status and dietary habits. Methods A cross-sectional survey was carried out during May–December 2009. Socio-demographic characteristics, health status and dietary habits were collected. Biomarkers were determined for 764 children. Bivariate and multivariable statistical methods were employed to assess micronutrient deficiencies (MD), anaemia, and their association with different factors. Results More than two thirds of the school-aged children (79.5%) had at least one MD and 40.5% had two or more coexisting micronutrient deficiencies. The most prevalent deficiencies were of zinc (12.5%), folate (13.9%), vit A (29.3%) and vit D (49%). Anaemia occurred in 30.9% of the children. Children living in rural areas were more likely to have vit D insufficiency [OR: 5.9 (3.7–9.5)] but less likely to have folate deficiency [OR: 0.2 (0.1–0.4)] and anaemia [OR: 0.58 (0.35–0.97)]. Splenomegaly was positively associated with folate deficiency and anaemia [OR: 2.77 (1.19–6.48) and 4.91 (2.47–9.75)]. Meat and fish consumption were inversely correlated with zinc and ferritin deficiencies [OR: 0.2 (0.1–0.8) and 0.2 (0.1–0.9)], while oil consumption showed a negative association with anaemia and deficiencies of folate and vitamin A [0.58 (0.3–0.9), OR: 0.5 (0.3–0.9) and 0.6 (0.4–0.9)]. Serum ferritin levels were inversely correlated to the presence of anaemia (p<0.005). Conclusion There is a high prevalence of vitamin A deficiency and vitamin D insufficiency and a moderate prevalence of zinc and folate deficiencies in school-aged children in this area. The inverse association of anaemia and serum ferritin levels may be due to the presence of infectious diseases in the area. To effectively tackle malnutrition

  15. Therapeutic Efficacy and Safety of GH in Japanese Children with Down Syndrome Short Stature Accompanied by GH Deficiency

    PubMed Central

    Meguri, Kyoko; Inoue, Masaru; Narahara, Koji; Sato, Takahiro; Takata, Ami; Ohki, Nobuhiko; Ozono, Keiichi

    2013-01-01

    In this study, we investigated the effects of GH treatment in children with Down syndrome who had been diagnosed with GH deficiency (GHD). A total of 20 subjects were investigated in this study. Fourteen Down syndrome children (5 boys and 9 girls) with short stature due to GHD were treated with GH at Okayama Red Cross General Hospital, and 6 Down syndrome children (4 boys and 2 girls) with short stature due to GHD were registered in the Pfizer International Growth Database (KIGS). Height SD score (SDS) increased throughout the three-year GH treatment period. The overall mean height SDS increased from –3.5 at baseline to –2.5 after 3 yr of treatment. The mean change in height SDS during these 3 yr was 1.1. In addition, height assessment of SD score based on Down syndrome-specific growth data in the Japanese population revealed that the height SDS (Down syndrome) also increased across the 3-yr GH treatment period. The mean change in height SDS (Down syndrome) during these three years was 1.3. GH therapy was effective for Down syndrome short stature accompanied by GHD, and no new safety concerns were found in this study. PMID:24170963

  16. Association of E-selectin with hematological, hormonal levels and plasma proteins in children with end stage renal disease

    PubMed Central

    Meamar, Rokhsareh; Shafiei, Mohammad; Abedini, Amin; Ghazvini, Mohammad Reza Aghaye; Roomizadeh, Peyman; Taheri, Shahram; Gheissari, Alaleh

    2016-01-01

    Background: Hypercoagulable state is a common serious problem in patients with end-stage renal disease (ESRD). ESRD patients are in a condition of chronic inflammation. An increased level of E-selectin, “a key adhesion molecule that regulates leukocyte bindings to endothelium at damaged sites,” accompanies the higher risk of inflammation in ESRD patients. We aimed to investigate the possible correlation among E-selectin as an adhesion molecule, coagulation factors, and inflammatory factors in children with ESRD. Materials and Methods: Thirty-five child patients with ESRD who had been on regular dialysis treatment were registered in our study. Nighteen sex- and age-matched healthy volunteers were used as the control group. Laboratory tests were requested for the evaluation of hematological and biochemical parameters, and parathyroid hormone (PTH), and for coagulation state; fibrinogen, protein C, and protein S were measured. The enzyme-linked immunosorbent assay (ELISA) (Biomerica, CA, and IDS, UK). for serum E-selectin assay was provided by R and D Systems (Abingdon, UK). Results: Hemoglubolin (Hb), blood urea nitrogen (BUN), creatinine, calcium, PTH, triglyceride (TG) concentrations in serum as well as E-selectin showed significant difference between the two study groups, as indeed was expected. Serum E-selectin was significantly higher (P value = 0.033) in dialysis patients than in healthy subjects. E-selectin was positively correlated only with phosphorus in ESRD children (r = 0.398, P = 0.018). No association was found for other parameters. Conclusion: Although in our study circulating E-selectin concentration “as an inflammatory maker” is independently positively associated with limited blood markers, for better evaluation, well-designed cohort studies should be examined in ESRD children. PMID:27563628

  17. Genetics Home Reference: 21-hydroxylase deficiency

    MedlinePlus

    ... deficiency is an inherited disorder that affects the adrenal glands . The adrenal glands are located on top of the kidneys and ... body. In people with 21-hydroxylase deficiency , the adrenal glands produce excess androgens, which are male sex hormones. ...

  18. Obesity-Related Hormones in Low-Income Preschool-Age Children: Implications for School Readiness

    ERIC Educational Resources Information Center

    Miller, Alison L.; Lumeng, Carey N.; Delproposto, Jennifer; Florek, Brian; Wendorf, Kristin; Lumeng, Julie C.

    2013-01-01

    Mechanisms underlying socioeconomic disparities in school readiness and health outcomes, particularly obesity, among preschool-aged children are complex and poorly understood. Obesity can induce changes in proteins in the circulation that contribute to the negative impact of obesity on health; such changes may relate to cognitive and emotion…

  19. IgA and/or IgG subclass deficiency in children with recurrent respiratory infections and its relationship with chronic pulmonary damage.

    PubMed

    Ozkan, H; Atlihan, F; Genel, F; Targan, S; Gunvar, T

    2005-01-01

    Most patients with IgA and/or IgG subclass deficiency are asymptomatic but some may suffer from frequent mainly respiratory infections. The aim of our study was to determine the frequency of IgA and/or IgG subclass deficiencies and the rate of chronic pulmonary damage secondary to recurrent pulmonary infections in these children. Serum IgA and IgG subclass levels were measured in 225 children aged 6 months to 6 years with recurrent sinopulmonary infections (44 with recurrent upper respiratory tract infections, 100 with recurrent pulmonary infections and 81 with recurrent bronchiolitis). In order to determine chronic pulmonary damage due to recurrent infections in patients with recurrent pulmonary infections CT scans of thorax were also obtained. The overall frequency of antibody defects was found to be 19.1%. IgA deficiency was observed in 9.3%, IgG subclass deficiency in 8.4% and IgA + IgG subclass deficiency in 1.4%. The prevalance of IgA and/or IgG subclass deficiency was 25% in patients with recurrent upper respiratory tract infections, 22% in patients with recurrent pulmonary infections and 12.3% in patients with recurrent bronchiolitis (p>0.05). Chronic pulmonary damage in lungs was determined radiologically in 17 of 100 cases with recurrent pulmonary infection. In IgG subclass deficiencies sequel changes, although not statistically significant, were observed five times more frequently than that of IgA deficiencies. CT scans revealed pulmonary sequels in 5 of the 22 (22.7%) patients with recurrent pulmonary infections and immunodeficiency (bronchiectasis in 2 patients with IgG3 deficiency, fibrotic changes in one with IgA deficiency and in one with IgG3 deficiency, bronchiolitis obliterans in one with IgG2 + IgG3 deficiency). On the other hand, pulmonary sequels were observed in 12 patients (15.4%) with normal immunoglobulin levels. Eight of them were bronchiolitis obliterans, 2 of them were atelectasia and 1 of them was bronchiectasia. We therefore suggest

  20. Zinc deficiency in children with environmental enteropathy—development of new strategies: report from an expert workshop1234

    PubMed Central

    Young, Graeme P; Mortimer, Elissa K; Gopalsamy, Geetha L; Alpers, David H; Binder, Henry J; Manary, Mark J; Ramakrishna, Balakrishnan S; Brown, Ian L; Brewer, Thomas G

    2014-01-01

    Zinc deficiency is a major cause of childhood morbidity and mortality. The WHO/UNICEF strategy for zinc supplementation as adjunctive therapy for diarrhea is poorly implemented. A conference of experts in zinc nutrition and gastrointestinal disorders was convened to consider approaches that might complement the current recommendation and what research was needed to develop these approaches. Several key points were identified. The design of novel zinc interventions would be facilitated by a better understanding of how disturbed gut function, such as environmental (or tropical) enteropathy, affects zinc absorption, losses, and homeostasis. Because only 10% of zinc stores are able to be rapidly turned over, and appear to be rapidly depleted by acute intestinal illness, they are probably best maintained by complementary regular supplementation in a primary prevention strategy rather than secondary prevention triggered by acute diarrhea. The assessment of zinc status is challenging and complex without simple, validated measures to facilitate field testing of novel interventions. Zinc bioavailability may be a crucial factor in the success of primary prevention strategies, and a range of options, all still inadequately explored, might be valuable in improving zinc nutrition. Some therapeutic actions of zinc on diarrhea seem attributable to pharmacologic effects, whereas others are related to the reversal of deficiency (ie, nutritional). The distinction between these 2 mechanisms cannot be clarified given the insensitivity of serum zinc to identify subclinical deficiency states. Why zinc seems to be less effective than expected at all ages, and ineffective for secondary prevention of diarrhea in children <12 mo of age, remains unclear. It was concluded that a reframing of the current recommendation is warranted with consideration of how to better optimize and deliver zinc and whether to provide a complementary public health primary prevention zinc strategy. This requires

  1. Zinc deficiency in children with environmental enteropathy-development of new strategies: report from an expert workshop.

    PubMed

    Young, Graeme P; Mortimer, Elissa K; Gopalsamy, Geetha L; Alpers, David H; Binder, Henry J; Manary, Mark J; Ramakrishna, Balakrishnan S; Brown, Ian L; Brewer, Thomas G

    2014-10-01

    Zinc deficiency is a major cause of childhood morbidity and mortality. The WHO/UNICEF strategy for zinc supplementation as adjunctive therapy for diarrhea is poorly implemented. A conference of experts in zinc nutrition and gastrointestinal disorders was convened to consider approaches that might complement the current recommendation and what research was needed to develop these approaches. Several key points were identified. The design of novel zinc interventions would be facilitated by a better understanding of how disturbed gut function, such as environmental (or tropical) enteropathy, affects zinc absorption, losses, and homeostasis. Because only 10% of zinc stores are able to be rapidly turned over, and appear to be rapidly depleted by acute intestinal illness, they are probably best maintained by complementary regular supplementation in a primary prevention strategy rather than secondary prevention triggered by acute diarrhea. The assessment of zinc status is challenging and complex without simple, validated measures to facilitate field testing of novel interventions. Zinc bioavailability may be a crucial factor in the success of primary prevention strategies, and a range of options, all still inadequately explored, might be valuable in improving zinc nutrition. Some therapeutic actions of zinc on diarrhea seem attributable to pharmacologic effects, whereas others are related to the reversal of deficiency (ie, nutritional). The distinction between these 2 mechanisms cannot be clarified given the insensitivity of serum zinc to identify subclinical deficiency states. Why zinc seems to be less effective than expected at all ages, and ineffective for secondary prevention of diarrhea in children <12 mo of age, remains unclear. It was concluded that a reframing of the current recommendation is warranted with consideration of how to better optimize and deliver zinc and whether to provide a complementary public health primary prevention zinc strategy. This requires

  2. Selenium deficiency mitigates hypothyroxinemia in iodine-deficient subjects.

    PubMed

    Vanderpas, J B; Contempré, B; Duale, N L; Deckx, H; Bebe, N; Longombé, A O; Thilly, C H; Diplock, A T; Dumont, J E

    1993-02-01

    Studies were performed to assess the role of combined selenium and iodine deficiency in the etiology of endemic myxedematous cretinism in a population in Zaire. One effect of selenium deficiency may be to lower glutathione peroxidase activity in the thyroid gland, thus allowing hydrogen peroxide produced during thyroid hormone synthesis to be cytotoxic. In selenium-and-iodine-deficient humans, selenium supplementation may aggravate hypothyroidism by stimulating thyroxin metabolism by the selenoenzyme type I iodothyronine 5'-deiodinase. Selenium supplementation is thus not indicated without iodine or thyroid hormone supplementation in cases of combined selenium and iodine deficiencies. PMID:8427203

  3. Serum lipoprotein pattern as modified in G6PD-deficient children during haemolytic anaemia induced by fava bean ingestion.

    PubMed

    Dessì, S; Batetta, B; Spano, O; Pulisci, D; Mulas, M F; Muntoni, S; Armeni, M; Sanna, C; Antonucci, R; Pani, P

    1992-04-01

    In the present study, plasma lipid concentrations were determined at different times after admission in sera from G6PD-deficient children during haemolytic crisis induced by fava bean ingestion. Reductions in total, LDL and HDL cholesterol were found in association with the maximum of bone marrow hyperplasia. A return towards normal values occurred with regression of the disease. No changes in other lipid parameters were observed. These data suggest that alterations of lipoprotein pattern, other than in experimental animals, are also present in humans with non-malignant proliferative processes. These changes appear to be a consequence of the disease, probably due to an increased utilization of cholesterol by proliferating cells. PMID:1571275

  4. Ornithine transcarbamylase and disaccharidase activities in damaged intestinal mucosa of children--diagnosis of hereditary ornithine transcarbamylase deficiency in mucosa.

    PubMed

    Cathelineau, L; Briand, P; Rabier, D; Navarro, J

    1985-12-01

    Ornithine transcarbamylase (OTC) and disaccharidase activities were measured in the intestinal mucosa from 182 children. Sixty-nine had normal mucosa, whereas the others had different degrees of mucosal damage. Brush border disaccharidases are significantly decreased in all degrees of villous atrophy. In contrast, OTC is not affected in moderate atrophy and only slightly decreased in severe atrophy. Consequently, the OTC-to-lactase ratio increases with the degree of atrophy and permits discrimination between normal and damaged mucosa. The assay of OTC activity in intestinal mucosa for the diagnosis of hereditary deficiency in male hemizygote patients generally provides nonambiguously low results, whereas in heterozygote females the amount of residual activity is in the range of the results found in damaged mucosa. PMID:4067786

  5. Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome.

    PubMed

    Hulle, Severine Van; Craen, Margarita; Callewaert, Bert; Joustra, Sjoerd; Oostdijk, Wilma; Losekoot, Monique; Wit, Jan Maarten; Turgeon, Marc Olivier; Bernard, Daniel J; Schepper, Jean De

    2016-03-01

    Immunoglobulin super family member 1 (IGSF1) deficiency syndrome is characterized by central hypothyroidism, delayed surge in testosterone during puberty, macro-orchidism, and in some cases, hypoprolactinemia and/or transient growth hormone (GH) deficiency. Our patient was a 19-year-old male adolescent who had been treated since the age of 9 years with GH and thyroxine for an idiopathic combined GH, thyroid-stimulating hormone (TSH), and prolactin (PRL) deficiency. His GH deficiency proved to be transient, but deficiencies of TSH and PRL persisted, and he had developed macro-orchidism since the end of puberty. Brain magnetic resonance imaging and PROP1 and POU1F1 sequencing were normal. A disharmonious puberty (delayed genital and pubic hair development, bone maturation, and pubertal growth spurt, despite normal testicular growth) was observed as well as a delayed adrenarche, as reflected by very low dehydroepiandrosterone sulfate and delayed pubarche. Direct sequencing of the IGSF1 gene revealed a novel hemizygous mutation, c.3127T>C, p.Cys1043Arg. Pathogenicity of the mutation was demonstrated in vitro. Male children with an idiopathic combined GH, PRL, and TSH deficiency, showing persistent central hypothyroidism but transient GH deficiency upon retesting at adult height, should be screened for mutations in the IGSF1 gene, especially when macro-orchidism and/or hypoprolactinemia are present. We suspect that delayed adrenarche, as a consequence of PRL deficiency, might be part of the clinical phenotype of patients with IGSF1 deficiency. PMID:26757742

  6. Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome

    PubMed Central

    Hulle, Severine Van; Craen, Margarita; Callewaert, Bert; Joustra, Sjoerd; Oostdijk, Wilma; Losekoot, Monique; Wit, Jan Maarten; Turgeon, Marc Olivier; Bernard, Daniel J.; Schepper, Jean De

    2016-01-01

    Immunoglobulin super family member 1 (IGSF1) deficiency syndrome is characterized by central hypothyroidism, delayed surge in testosterone during puberty, macro-orchidism, and in some cases, hypoprolactinemia and/or transient growth hormone (GH) deficiency. Our patient was a 19-year-old male adolescent who had been treated since the age of 9 years with GH and thyroxine for an idiopathic combined GH, thyroid-stimulating hormone (TSH), and prolactin (PRL) deficiency. His GH deficiency proved to be transient, but deficiencies of TSH and PRL persisted, and he had developed macro-orchidism since the end of puberty. Brain magnetic resonance imaging and PROP1 and POU1F1 sequencing were normal. A disharmonious puberty (delayed genital and pubic hair development, bone maturation, and pubertal growth spurt, despite normal testicular growth) was observed as well as a delayed adrenarche, as reflected by very low dehydroepiandrosterone sulfate and delayed pubarche. Direct sequencing of the IGSF1 gene revealed a novel hemizygous mutation, c.3127T>C, p.Cys1043Arg. Pathogenicity of the mutation was demonstrated in vitro. Male children with an idiopathic combined GH, PRL, and TSH deficiency, showing persistent central hypothyroidism but transient GH deficiency upon retesting at adult height, should be screened for mutations in the IGSF1 gene, especially when macro-orchidism and/or hypoprolactinemia are present. We suspect that delayed adrenarche, as a consequence of PRL deficiency, might be part of the clinical phenotype of patients with IGSF1 deficiency. PMID:26757742

  7. Vitamin D Deficiency and Hashimoto’s Thyroiditis in Children and Adolescents: a Critical Vitamin D Level for This Association?

    PubMed Central

    Evliyaoğlu, Olcay; Acar, Manolya; Özcabı, Bahar; Erginöz, Ethem; Bucak, Feride; Ercan, Oya; Kucur, Mine

    2015-01-01

    Objective: Vitamin D has been suggested to be active as an immunomodulator in autoimmune diseases such as Hashimoto’s thyroiditis (HT). The goal of the present study was to investigate the vitamin D status in HT patients. Methods: This prevalence case-control study was conducted on 90 patients with HT (of ages 12.32±2.87 years) and 79 age-matched healthy controls (11.85±2.28 years). Serum 25-hydroxyvitamin D3 [25(OH)D3] levels were measured in all 169 subjects. Results: The prevalence of vitamin D deficiency in HT patients (64 of 90; 71.1%) was significantly higher than that in the control group (41 of 79; 51.9%) (p=0.025). Mean serum 25(OH)D3 level in the HT group was significantly lower compared to the control group (16.67±11.65 vs. 20.99±9.86 ng/mL, p=0.001). HT was observed 2.28 times more frequently in individuals with 25(OH)D3 levels <20 ng/mL (OR: 2.28, CI: 1.21-4.3). Conclusion: Vitamin D deficiency is associated with HT in children and adolescents. Levels lower than 20 ng/mL seem to be critical. The mechanism for this association is not clear. PMID:26316435

  8. Is severe progressive liver disease caused by alpha-1-antitrypsin deficiency more common in children or adults?

    PubMed

    Chu, Andrew S; Chopra, Kapil B; Perlmutter, David H

    2016-07-01

    The classical form of alpha-1-antitrypsin deficiency (A1ATD) is known to cause liver disease in children and adults, but there is relatively little information about the risk of severe, progressive liver disease and the need for liver transplantation. To better understand how newly evolving pharmacological, genetic, and cellular therapies may be targeted according to risk for progressive liver disease, we sought to determine the age distribution of A1ATD as a cause of severe liver disease, as defined by the need for liver transplantation. Using 3 US liver transplantation databases for the period 1991-2012, we found 77.2% of 1677 liver transplants with a reported diagnosis of A1ATD were adults. The peak age range was 50-64 years. Using 2 of the databases which included specific A1AT phenotypes, we found that many of these adults who undergo liver transplantation with A1ATD as the diagnosis are heterozygotes and have other potential causes of liver disease, most notably obesity and ethanol abuse. However, even when these cases are excluded and only ZZ and SZ phenotypes are considered, severe liver disease requiring transplantation is more than 2.5 times as likely in adults. The analysis also showed a markedly increased risk for males. In the pediatric group, almost all of the transplants are done in children less than 5 years of age. In conclusion, A1ATD causes progressive liver disease most commonly in adults with males in the highest risk category. In the pediatric group, children less than 5 years of age are highest in risk. These results suggest that A1ATD most commonly causes liver disease by mechanisms similar to age-dependent degenerative diseases and more rarely in children by powerful modifiers. Liver Transplantation 22 886-894 2016 AASLD. PMID:26946192

  9. Justified and unjustified use of growth hormone

    PubMed Central

    van der Lely, A J

    2004-01-01

    Growth hormone (GH) replacement therapy for children and adults with proven GH deficiency due to a pituitary disorder has become an accepted therapy with proven efficacy. GH is increasingly suggested, however, as a potential treatment for frailty, osteoporosis, morbid obesity, cardiac failure, and various catabolic conditions. However, the available placebo controlled studies have not reported many significant beneficial effects, and it might even be dangerous to use excessive GH dosages in conditions in which the body has just decided to decrease GH actions. GH can indeed induce changes in body composition that are considered to be advantageous to GH deficient and non-GH deficient subjects. In contrast to GH replacement therapy in GH deficient subjects, however, excessive GH action due to GH misuse seems to be ineffective in improving muscle power. Moreover, there are no available study data to indicate that the use of GH for non-GH deficient subjects should be advocated, especially as animal data suggest that lower GH levels are positively correlated with longevity. PMID:15466991

  10. Iron Deficiency in Autism and Asperger Syndrome.

    ERIC Educational Resources Information Center

    Latif, A.; Heinz, P.; Cook, R.

    2002-01-01

    Retrospective analysis of the full blood count and, when available, serum ferritin measurements of 96 children (52 with autism and 44 with Asperger syndrome) found six autistic children had iron deficiency and 12 of the 23 autistic children with serum ferritin measures were iron deficient. Far fewer Asperger children were iron deficient. Results…

  11. Generalization of a Sign Language Rehearsal Strategy in Mentally Retarded and Hearing Deficient Children.

    ERIC Educational Resources Information Center

    Manion, Ian G.; Bucher, Bradley

    1986-01-01

    Five nonverbal severely mentally retarded and three nonverbal deaf children learned to use a sign-rehearsal strategy in one of two memory tasks. Generalization to a simpler task was accomplished for two Ss trained in a more complex task. (Author/CL)

  12. Applications of Measures of Speed of Mental Operations among Children with Intellectual Deficiency.

    ERIC Educational Resources Information Center

    Loranger, Michel; Blais, Marie Claude; Hopps, Sandra; Pepin, Michel; Boisvert, Jean-Marie; Doyon, Martin

    2002-01-01

    This study assessed use of five computerized analogy problems as a measure of mental speed with 62 children (ages 3-13) with mild/moderate mental retardation. Results found medium to high correlation between scores on the tasks and other cognitive measures and the adaptive behavior scale. The value of assessing cognitive speed in the cognitive…

  13. Developmental Changes in the Effects of Instructions on Production- deficient Children

    ERIC Educational Resources Information Center

    Bray, Norman W.; And Others

    1977-01-01

    First- and third-grade children were tested under six different instruction conditions which varied in how explicitly they cued a rehearsal strategy in a self-paced sequential-memory task. The type of strategy adopted was monitored with study time and overt verbalization measures. (JMB)

  14. N300 Indexes Deficient Integration of Orthographic and Phonological Representations in Children with Dyslexia

    ERIC Educational Resources Information Center

    Hasko, Sandra; Bruder, Jennifer; Bartling, Jurgen; Schulte-Korne, Gerd

    2012-01-01

    In transparent orthographies, like German, children with developmental dyslexia (DD) are mainly characterized by a reading fluency deficit. The reading fluency deficit might be traced back to a scarce integration of orthographic and phonological representations. In order to address this question, the present study used EEG to investigate the N300,…

  15. Intake of Phthalate-tainted Foods and Serum Thyroid Hormones in Taiwanese Children and Adolescents.

    PubMed

    Tsai, Hui-Ju; Wu, Chia-Fang; Tsai, Yi-Chun; Huang, Po-Chin; Chen, Mei-Lien; Wang, Shu-Li; Chen, Bai-Hsiun; Chen, Chu-Chih; Wu, Wen-Chiu; Hsu, Pi-Shan; Hsiung, Chao A; Wu, Ming-Tsang

    2016-01-01

    On April-May, 2011, phthalates, mainly Di-(2-ethylhexyl) phthalate (DEHP), were deliberately added to a variety of foodstuff as a substitute emulsifier in Taiwan. This study investigated the relationship between DEHP-tainted foodstuffs exposure and thyroid function in possibly affected children and adolescents. Two hundred fifty participants <18 years possibly exposed to DEHP were enrolled in this study between August 2012 and January 2013. Questionnaires were used to collect details on their past exposure to DEHP-tainted food items. Blood and urine samples were collected for biochemical workups to measure current exposure derived from three urinary DEHP metabolites using a creatinine excretion-based model. More than half of 250 participants were estimated to be exposed to DEHP-tainted foods found to exceed the recommend tolerable daily intake of DEHP established by the European Food Safety Authority (<50 μg/kg/day). The median daily DEHP intake (DDI) among those 250 participants was 46.52 μg/kg/day after multiple imputation. This value was ~10-fold higher than the current median DEHP intake (4.46 μg/kg/day, n = 240). Neither past nor current DEHP exposure intensity was significantly associated with serum thyroid profiles. Future studies may want to follow the long-term health effects of this food scandal in affected children and adolescents. PMID:27470018

  16. Intake of Phthalate-tainted Foods and Serum Thyroid Hormones in Taiwanese Children and Adolescents

    NASA Astrophysics Data System (ADS)

    Tsai, Hui-Ju; Wu, Chia-Fang; Tsai, Yi-Chun; Huang, Po-Chin; Chen, Mei-Lien; Wang, Shu-Li; Chen, Bai-Hsiun; Chen, Chu-Chih; Wu, Wen-Chiu; Hsu, Pi-Shan; Hsiung, Chao A.; Wu, Ming-Tsang

    2016-07-01

    On April-May, 2011, phthalates, mainly Di-(2-ethylhexyl) phthalate (DEHP), were deliberately added to a variety of foodstuff as a substitute emulsifier in Taiwan. This study investigated the relationship between DEHP-tainted foodstuffs exposure and thyroid function in possibly affected children and adolescents. Two hundred fifty participants <18 years possibly exposed to DEHP were enrolled in this study between August 2012 and January 2013. Questionnaires were used to collect details on their past exposure to DEHP-tainted food items. Blood and urine samples were collected for biochemical workups to measure current exposure derived from three urinary DEHP metabolites using a creatinine excretion-based model. More than half of 250 participants were estimated to be exposed to DEHP-tainted foods found to exceed the recommend tolerable daily intake of DEHP established by the European Food Safety Authority (<50 μg/kg/day). The median daily DEHP intake (DDI) among those 250 participants was 46.52 μg/kg/day after multiple imputation. This value was ~10-fold higher than the current median DEHP intake (4.46 μg/kg/day, n = 240). Neither past nor current DEHP exposure intensity was significantly associated with serum thyroid profiles. Future studies may want to follow the long-term health effects of this food scandal in affected children and adolescents.

  17. Intake of Phthalate-tainted Foods and Serum Thyroid Hormones in Taiwanese Children and Adolescents

    PubMed Central

    Tsai, Hui-Ju; Wu, Chia-Fang; Tsai, Yi-Chun; Huang, Po-Chin; Chen, Mei-Lien; Wang, Shu-Li; Chen, Bai-Hsiun; Chen, Chu-Chih; Wu, Wen-Chiu; Hsu, Pi-Shan; Hsiung, Chao A.; Wu, Ming-Tsang

    2016-01-01

    On April-May, 2011, phthalates, mainly Di-(2-ethylhexyl) phthalate (DEHP), were deliberately added to a variety of foodstuff as a substitute emulsifier in Taiwan. This study investigated the relationship between DEHP-tainted foodstuffs exposure and thyroid function in possibly affected children and adolescents. Two hundred fifty participants <18 years possibly exposed to DEHP were enrolled in this study between August 2012 and January 2013. Questionnaires were used to collect details on their past exposure to DEHP-tainted food items. Blood and urine samples were collected for biochemical workups to measure current exposure derived from three urinary DEHP metabolites using a creatinine excretion-based model. More than half of 250 participants were estimated to be exposed to DEHP-tainted foods found to exceed the recommend tolerable daily intake of DEHP established by the European Food Safety Authority (<50 μg/kg/day). The median daily DEHP intake (DDI) among those 250 participants was 46.52 μg/kg/day after multiple imputation. This value was ~10-fold higher than the current median DEHP intake (4.46 μg/kg/day, n = 240). Neither past nor current DEHP exposure intensity was significantly associated with serum thyroid profiles. Future studies may want to follow the long-term health effects of this food scandal in affected children and adolescents. PMID:27470018

  18. [News options and preparations in growth hormone therapy].

    PubMed

    Aguiar-Oliveira, Manuel H; Meneguz-Moreno, Rafael A; Nascimento-Junior, Adão C

    2008-07-01

    In the last twenty years, recombinant human Growth hormone (hrGH) has been available for the treatment of Growth Hormone Deficiency (GHD) in children and more recently in adults. However, the necessity of daily injections compromises the patient's compliance. Attempts to improve this compliance includes the use of pens and needle free devices, once the infusion pumps, not always physiologic, are of restricted use. When growth is the purpose of treatment, daily subcutaneous hrGH is still the most indicated. Nevertheless the expansion of GH replacement to new uses and especially in adults will need new preparations. Nowadays, the oral secretagogues have not proved efficacy to be used in clinical practice and the slow- release preparations of GH and GH releasing hormone that could improve the patient's compliance will need to be studied considering long term efficacy and safety. PMID:18797599

  19. Evaluation of appetite-stimulating hormones in prepubertal children with epilepsy during topiramate treatment.

    PubMed

    Okuyaz, Cetin; Kursel, Onur; Komur, Mustafa; Tamer, Lulufer

    2012-12-01

    We investigated the mechanism of topiramate-related appetite loss and exposed its relationship to body weight, body mass index, body fat index, and serum insulin, lipid, leptin, neuropeptide-Y, cortisol, ghrelin, and adiponectin levels. Twenty children with epilepsy were evaluated at baseline and months 3 and 6 of treatment. Their body fat index, leptin, and neuropeptide-Y levels significantly decreased at month 3, whereas significant decreases occurred in body weight, body mass index, body fat index, neuropeptide-Y, cholesterol, and cortisol levels of patients at month 6 compared with baseline. Weight loss during topiramate treatment was attributed to loss of appetite and reduced food intake caused by reductions in neuropeptide-Y. To the best of our knowledge, this study is the first to describe reductions in neuropeptide-Y with topiramate use in humans. PMID:23127262

  20. Iodine-deficiency disorders.

    PubMed

    Zimmermann, Michael B; Jooste, Pieter L; Pandav, Chandrakant S

    2008-10-01

    2 billion individuals worldwide have insufficient iodine intake, with those in south Asia and sub-Saharan Africa particularly affected. Iodine deficiency has many adverse effects on growth and development. These effects are due to inadequate production of thyroid hormone and are termed iodine-deficiency disorders. Iodine deficiency is the most common cause of preventable mental impairment worldwide. Assessment methods include urinary iodine concentration, goitre, newborn thyroid-stimulating hormone, and blood thyroglobulin. In nearly all countries, the best strategy to control iodine deficiency is iodisation of salt, which is one of the most cost-effective ways to contribute to economic and social development. When iodisation of salt is not possible, iodine supplements can be given to susceptible groups. Introduction of iodised salt to regions of chronic iodine-deficiency disorders might transiently increase the proportion of thyroid disorders, but overall the small risks of iodine excess are far outweighed by the substantial risks of iodine deficiency. International efforts to control iodine-deficiency disorders are slowing, and reaching the third of the worldwide population that remains deficient poses major challenges. PMID:18676011

  1. Soy intake and urinary sex hormone levels in preschool Japanese children.

    PubMed

    Wada, Keiko; Nakamura, Kozue; Masue, Takako; Sahashi, Yukari; Ando, Kyoko; Nagata, Chisato

    2011-05-01

    The authors investigated whether soy intake is associated with sex steroid levels in Japanese children. This cross-sectional study was conducted in autumn 2006. Subjects were substantially healthy preschoolers, 230 boys and 198 girls, aged 3-6 years. Dietary data, including soy intake, were assessed using 3-day dietary records. Each child's dietary intake was controlled for total energy intake using the Willett method (Nutritional Epidemiology. Oxford, United Kingdom: Oxford University Press; 1990:245-271). Urinary estrone, estradiol, testosterone, and 5-androstene-3β,17α diol levels measured using liquid chromatography-electrospray ionization tandem mass spectrometry, and urinary dehydroepiandrosterone level measured with a radioimmunoassay, were adjusted for urinary creatinine levels. In the analysis of covariance for sex steroids after adjustments for age and body mass index, soy intake was significantly negatively related to estrone and estradiol in boys and positively related to testosterone and 5-androstene-3β,17α diol in girls. Isoflavone had a significant tendency to be negatively associated with estradiol in boys and to be positively associated with testosterone in girls. Total energy intake was not associated with any sex steroids in boys or girls. These results suggest that soy intake might affect the secretion or metabolism of sex steroids in childhood and that the effects might differ by sex. PMID:21427172

  2. Deficiency of the parathyroid hormone-related peptide nuclear localization and carboxyl terminal sequences leads to premature skin ageing partially mediated by the upregulation of p27.

    PubMed

    Jiang, Minyue; Chen, Guangpei; Lu, Na; Zhang, Yongjie; Jin, Shulei; Karaplis, Andrew; Goltzman, David; Miao, Dengshun

    2015-11-01

    We previously reported that deficiency of the PTHrP nuclear localization sequence (NLS) and C-terminus in PTHrP knockin (PTHrP KI) mice resulted in premature ageing of skin. P27, a cyclin-dependent kinase inhibitor, was upregulated in PTHrP KI mice and acted as a downstream target of the PTHrP NLS to regulate the proliferation of vascular smooth muscle cells. To determine the effects of p27 deficiency on premature skin ageing of PTHrP KI mice, we compared the skin phenotypes of PTHrP KI mice to those of p27 knockout (p27(-/-) ) mice and to those of double homozygous p27-deficient and PTHrP KI (p27(-/-) PTHrP KI) mice at 2 weeks age. Compared with wild-type littermates, PTHrP KI mice displayed thinner skin and decreased subcutaneous fat and collagen fibres, decreased skin cell proliferation and increased apoptosis, higher expression of p27, p19 and p53 and lower expression of cyclin E and CDK2, and increased reactive oxygen species levels and decreased antioxidant capacity. Deficiency of p27 in the PTHrP KI mice at least in part corrected the skin premature ageing phenotype resulting in thicker skin and increased subcutaneous fat and collagen. These alternations were associated with higher expression of CDK2 and cyclin E, lower expression of p19 and p53, and enhanced antioxidant capacity with increased skin cell proliferation and inhibition of apoptosis. Our results indicate that the NLS and C-terminus of PTHrP play a critical role in preventing skin from premature ageing that is partially mediated by p27. PMID:26121068

  3. Genotype–Phenotype Correlations for Infants and Children with ABCA3 Deficiency

    PubMed Central

    Casey, Alicia M.; Fishman, Martha P.; Wegner, Daniel J.; Wert, Susan E.; Cole, F. Sessions; Hamvas, Aaron; Nogee, Lawrence M.

    2014-01-01

    Rationale: Recessive mutations in the ATP-binding cassette transporter A3 (ABCA3) cause lethal neonatal respiratory failure and childhood interstitial lung disease. Most ABCA3 mutations are private. Objectives: To determine genotype–phenotype correlations for recessive ABCA3 mutations. Methods: We reviewed all published and unpublished ABCA3 sequence and phenotype data from our prospective genetic studies of symptomatic infants and children at Washington and Johns Hopkins Universities. Mutations were classified based on their predicted disruption of protein function: frameshift and nonsense mutations were classified as “null,” whereas missense, predicted splice site mutations, and insertion/deletions were classified as “other.” We compared age of presentation and outcomes for the three genotypes: null/null, null/other, and other/other. Measurements and Main Results: We identified 185 infants and children with homozygous or compound heterozygous ABCA3 mutations and lung disease. All of the null/null infants presented with respiratory failure at birth compared with 75% of infants with null/other or other/other genotypes (P = 0.00011). By 1 year of age, all of the null/null infants had died or undergone lung transplantation compared with 62% of the null/other and other/other children (P < 0.0001). Conclusions: Genotype–phenotype correlations exist for homozygous or compound heterozygous mutations in ABCA3. Frameshift or nonsense ABCA3 mutations are predictive of neonatal presentation and poor outcome, whereas missense, splice site, and insertion/deletions are less reliably associated with age of presentation and prognosis. Counseling and clinical decision making should acknowledge these correlations. PMID:24871971

  4. Treatment adherence with the easypod™ growth hormone electronic auto-injector and patient acceptance: survey results from 824 children and their parents

    PubMed Central

    2011-01-01

    Background Accurately monitoring adherence to treatment with recombinant human growth hormone (r-hGH) enables appropriate intervention in cases of poor adherence. The electronic r-hGH auto-injector, easypod™, automatically records the patient's adherence to treatment. This study evaluated adherence to treatment of children who started using the auto-injector and assessed opinions about the device. Methods A multicentre, multinational, observational 3-month survey in which children received r-hGH as part of their normal care. Physicians reviewed the recorded dose history and children (with or without parental assistance) completed a questionnaire-based survey. Children missing ≤2 injections per month (92% of injections given) were considered adherent to treatment. Adherence was compared between GH treatment-naïve and treatment-experienced children. Results Of 834 recruited participants, 824 were evaluated. The median (range) age was 11 (1-18) years. From the recorded dose history, 87.5% of children were adherent to treatment over the 3-month period. Recorded adherence was higher in treatment-naïve (89.7%, n = 445/496) than in treatment-experienced children (81.7%, n = 152/186) [Fisher's exact test FI(X) = 7.577; p = 0.0062]. According to self-reported data, 90.2% (607/673) of children were adherent over 3 months; 51.5% (421/817) missed ≥1 injection over this period (mainly due to forgetfulness). Concordance between reported and recorded adherence was 84.3%, with a trend towards self-reported adherence being higher than recorded adherence. Most children liked the auto-injector: over 80% gave the top two responses from five options for ease of use (720/779), speed (684/805) and comfort (716/804). Although 38.5% (300/780) of children reported pain on injection, over half of children (210/363) considered the pain to be less or much less than expected. Given the choice, 91.8% (732/797) of children/parents would continue using the device. Conclusions easypod

  5. Influence of sex and gonadal hormones on rat-liver and carcass lipids during the development of an essential fatty acid deficiency

    PubMed Central

    Ostwald, Rosemarie; Bouchard, Pauline; Miljanich, P.; Lyman, R. L.

    1965-01-01

    1. Groups of intact male and female rats and castrated rats injected with oestradiol or testosterone were given a diet containing hydrogenated coconut oil for 9 weeks, and at intervals the amounts and fatty acid compositions of the carcass and liver lipids were determined. 2. Male rats grew faster and larger, and exhibited typical external essential fatty acid deficiency symptoms sooner than did females. Testosterone-treated castrated male rats were similar to males, and oestradiol-injected castrated male rats resembled females. 3. Intact females maintained a higher linoleic acid concentration in their carcass than did males. Total amounts of carcass linoleic acid remained similar for all groups, only 200mg. being removed in 9 weeks regardless of body size. 4. The amounts of total cholesteryl esters were independent of liver size. They were higher in males and testosterone-treated castrated male rats than in females and oestrogen-treated castrated male rats. 5. Phospholipids represented about 80% of the liver lipids. The total amounts of the phospholipid linoleic acid and arachidonic acid were similar for all groups regardless of liver size, and were not affected appreciably by the deficiency. Females and oestrogen-treated castrated male rats maintained a higher proportion of phospholipid arachidonic acid for longer periods than did their male counterparts. Both the total amounts and the proportions of eicosatrienoic acid and palmitic acid were higher in males than in females. 6. Supplementation of the essential fatty acid-deficient diet with linoleic acid caused a rapid loss of eicosatrienoic acid and palmitic acid with a concomitant increase in stearic acid and arachidonic acid. 7. There were no obvious differences in the way that the essential fatty acids were metabolized or mobilized from adipose tissue of male or female rats during essential fatty acid deficiency. 8. The results indicated that the greater growth rate of the male rats caused them to require and

  6. Young Zanzibari Children with Iron Deficiency, Iron Deficiency Anemia, Stunting, or Malaria Have Lower Motor Activity Scores and Spend Less Time in Locomotion

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Motor activity improves cognitive and social-emotional development through a child’s exploration of his or her physical and social environment. This study assessed anemia, iron deficiency, hemoglobin (Hb), length-for-age Z-score (LAZ), and malaria infection as predictors of motor activity in 771 chi...

  7. Potential Contribution of Iron Deficiency and Multiple Factors to Anemia Among 6- to 72-Month-Old Children in the Kokang Area of Myanmar.

    PubMed

    Zhao, Ai; Gao, Hongchong; Li, Bo; Yu, Kai; Win, Naing Naing; Zhang, Yumei; Wang, Peiyu

    2015-10-01

    The prevalence of anemia among children in Myanmar has been reported to be among the highest in the world. This study was conducted to determine 1) the prevalence of anemia in preschool children and 2) risk factors associated with anemia. A total of 138 children aged from 6 to 72 months were recruited through cluster sampling from six villages in Kokang. Hemoglobin (Hb) concentration, blood trace elements, and anthropometric indicators were measured. Feces samples were collected to examine for the presence of ascarid eggs. The overall prevalence of anemia in children was 61.6%, including 10.9% with severe anemia. Meanwhile, high prevalence of stunting (40.0%), underweight (22.4%), wasting (6.3%), and small head circumference (6.7%) was found. Children with anemia were more prone to stunting. Children with severe anemia and moderate anemia had significantly lower blood iron and zinc levels than children without anemia (P < 0.001 and P = 0.007). The prevalence of ascarid infection was 64.9%; however, it was not associated with anemia. Drinking spring water was positively associated with anemia (odds ratio [OR] = 6.368). This study demonstrated that anemia is an important public health problem among children from the Kokang area. Iron deficiency and drinking spring water may be the important causes of anemia among children. PMID:26195457

  8. Glucose-6-phosphate dehydrogenase deficiency and the risk of malaria and other diseases in children in Kenya: a case-control and a cohort study

    PubMed Central

    Uyoga, Sophie; Ndila, Carolyne M; Macharia, Alex W; Nyutu, Gideon; Shah, Shivang; Peshu, Norbert; Clarke, Geraldine M; Kwiatkowski, Dominic P; Rockett, Kirk A; Williams, Thomas N

    2015-01-01

    Summary Background The global prevalence of X-linked glucose-6-phosphate dehydrogenase (G6PD) deficiency is thought to be a result of selection by malaria, but epidemiological studies have yielded confusing results. We investigated the relationships between G6PD deficiency and both malaria and non-malarial illnesses among children in Kenya. Methods We did this study in Kilifi County, Kenya, where the G6PD c.202T allele is the only significant cause of G6PD deficiency. We tested the associations between G6PD deficiency and severe and complicated Plasmodium falciparum malaria through a case-control study of 2220 case and 3940 control children. Cases were children aged younger than 14 years, who visited the high dependency ward of Kilifi County Hospital with severe malaria between March 1, 1998, and Feb 28, 2010. Controls were children aged between 3–12 months who were born within the same study area between August 2006, and September 2010. We assessed the association between G6PD deficiency and both uncomplicated malaria and other common diseases of childhood in a cohort study of 752 children aged younger than 10 years. Participants of this study were recruited from a representative sample of households within the Ngerenya and Chonyi areas of Kilifi County between Aug 1, 1998, and July 31, 2001. The primary outcome measure for the case-control study was the odds ratio for hospital admission with severe malaria (computed by logistic regression) while for the cohort study it was the incidence rate ratio for uncomplicated malaria and non-malaria illnesses (computed by Poisson regression), by G6PD deficiency category. Findings 2863 (73%) children in the control group versus 1643 (74%) in the case group had the G6PD normal genotype, 639 (16%) versus 306 (14%) were girls heterozygous for G6PD c.202T, and 438 (11%) versus 271 (12%) children were either homozygous girls or hemizygous boys. Compared with boys and girls without G6PD deficiency, we found significant

  9. Growth and growth hormone: An overview.

    PubMed

    Teran, Enrique; Chesner, Jaclyn; Rapaport, Robert

    2016-06-01

    Growth is a good indicator of a child's health. Growth disturbances, including short stature or growth failure, could be indications of illnesses such as chronic disease, nutritional deficits, celiac disease or hormonal abnormalities. Therefore, a careful assessment of the various requirements for normal growth needs to be done by history, physical examination, and screening laboratory tests. More details will be reviewed about the GH-IGF axis, its abnormalities with special emphasis on GH deficiency, its diagnosis and treatment. GH treatment indications in the US will be reviewed and a few only will be highlighted. They will include GH deficiency, as well as the treatment of children born SGA, including the results of a US study using FDA approved dose of 0.48mg/kg/week. GH deficiency in adults will also be briefly reviewed. Treatment of patients with SHOX deficiency will also be discussed. Possible side effects of GH treatment and the importance of monitoring safety will be highlighted. PMID:26936284

  10. Behavior in children with Prader-Willi syndrome before and during growth hormone treatment: a randomized controlled trial and 8-year longitudinal study.

    PubMed

    Lo, Sin T; Siemensma, Elbrich P C; Festen, Dederieke A M; Collin, Philippe J L; Hokken-Koelega, Anita C S

    2015-09-01

    Information on behavior of children with Prader-Willi syndrome (PWS) and the effect of growth hormone (GH) treatment is scarce. Parents report less problem behavior during GH treatment. Forty-two pre-pubertal children, aged 3.5-14 years were studied in a randomized controlled GH trial (RCT) during 2 years, followed by a longitudinal study during 8 years of GH treatment. Behavior was measured annually by the Developmental Behavior Checklist for children with intellectual disability (DBC) and a Dutch questionnaire to evaluate social behavioral problems in children, the Children's Social Behavior Questionnaire (CSBQ). Problem behavior measured by the DBC in children with PWS was similar compared to peers with comparable intellectual disability. Scores on 'Social disabilities' subscale were however significantly higher compared to the DBC total score (p < 0.01). A lower IQ was associated with more self-absorbed behavior, more communication problems and more problem behavior in general. Problem behavior measured by the CSBQ was similar compared to peers with a comparable intellectual disability, but children with PWS scored significantly higher on the 'Not tuned', 'Understanding', and 'Stereotyped' subscales than the CSBQ total score (p < 0.05 for all subscales and p = 0.001 for the 'Not tuned'-subscale). There were no significant effects of GH treatment during the RCT and 8 years of GH treatment. Children with PWS showed similar problem behavior as a reference population with a comparable intellectual disability. Social problems were the most pronounced within-problem behavior in PWS. In contrast to our expectations and parents reports, our study shows no improvement but also no deterioration of behavioral problems in children with PWS during long-term GH treatment. PMID:25522840

  11. Mutations in Prokineticin 2 and Prokineticin receptor 2genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum

    PubMed Central

    Cole, Lindsay W.; Sidis, Yisrael; Zhang, ChengKang; Quinton, Richard; Plummer, Lacey; Pignatelli, Duarte; Hughes, Virginia A.; Dwyer, Andrew A.; Raivio, Taneli; Hayes, Frances J.; Seminara, Stephanie B.; Huot, Celine; Alos, Nathalie; Speiser, Phyllis; Takeshita, Akira; VanVliet, Guy; Pearce, Simon; Crowley, William F.; Zhou, Qun-Yong; Pitteloud, Nelly

    2008-01-01

    Context: Mice deficient in prokineticin 2(PROK2) and prokineticin receptor2 (PROKR2) exhibit variable olfactory bulb dysgenesis and GnRH neuronal migration defects reminiscent of human GnRH deficiency. Objectives: We aimed to screen a large cohort of patients with Kallmann syndrome (KS) and normosmic idiopathic hypogonadotropic hypogonadism (IHH) for mutations in PROK2/PROKR2, evaluate their prevalence, define the genotype/phenotype relationship, and assess the functionality of these mutant alleles in vitro. Design: Sequencing of the PROK2 and PROKR2 genes was performed in 170 KS patients and 154 nIHH. Mutations were examined using early growth response 1-luciferase assays in HEK 293 cells and aequorin assays in Chinese hamster ovary cells. Results: Four heterozygous and one homozygous PROK2 mutation (p.A24P, p.C34Y, p.I50M, p.R73C, and p.I55fsX1) were identified in five probands. Four probands had KS and one nIHH, and all had absent puberty. Each mutant peptide impaired receptor signaling in vitro except the I50M. There were 11 patients who carried a heterozygous PROKR2 mutation (p.R85C, p.Y113H, p.V115M, p.R164Q, p.L173R, p.W178S, p.S188L, p.R248Q, p.V331M, and p.R357W). Among them, six had KS, four nIHH, and one KS proband carried both a PROKR2 (p.V115M) and PROK2 (p.A24P) mutation. Reproductive phenotypes ranged from absent to partial puberty to complete reversal of GnRH deficiency after discontinuation of therapy. All mutant alleles appear to decrease intracellular calcium mobilization; seven exhibited decreased MAPK signaling, and six displayed decreased receptor expression. Nonreproductive phenotypes included fibrous dysplasia, sleep disorder, synkinesia, and epilepsy. Finally, considerable variability was evident in family members with the same mutation, including asymptomatic carriers. Conclusion: Loss-of-function mutations in PROK2 and PROKR2 underlie both KS and nIHH. PMID:18559922

  12. Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

    PubMed Central

    SARRAFZADEH, Shokouh Azam; MAHLOOJIRAD, Maryam; NOURIZADEH, Maryam; CASANOVA, Jean-Laurent; POURPAK, Zahra; BUSTAMANTE, Jacinta; MOIN, Mostafa

    2016-01-01

    Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in children following BCG vaccination at birth. Regarding the vaccination program in Iran, it may consider as a public health problem. The pathogenesis of MSMD is dependent on either insufficient production of IFN-gamma (γ) or inadequate response to it. Here, we want to introduce three cases including two siblings and one girl from two unrelated families with severe mycobacterial infections referred to Immunology, Asthma and Allergy Research Institute (IAARI), from 2013 to 2015; their MSMD was confirmed by both cytokine assessment and genetic analysis. Regarding the clinical features of the patients, cell proliferation against a mitogen and BCG antigen was ordered in a lymphocyte transformation test (LTT) setting. ELISA was performed for the measurement of IL-12p70 and IFN-γ in whole blood samples activated by BCG + recombinant human IFN-γ and BCG + recombinant human IL-12, respectively. In contrast to mitogen, the antigen-dependent proliferation activity of the patients’ leukocytes was significantly lower than that in normal range. We identified a homozygous mutation in IL12RB1 gene for two kindred who had a homozygous mutation affecting an essential splice site. For the third patient, a novel frameshift deletion in IL12RB1 gene was found. The genetic study results confirmed the impaired function of stimulated lymphocytes to release IFN-γ following stimulation with BCG+IL-12 while the response to rhIFN-γ for IL-12p70 production was relatively intact. Our findings show that cellular and molecular assessments are needed for precise identification of immunodeficiency disorders especially those without clear-cut diagnostic criteria. PMID:27141500

  13. Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

    PubMed Central

    SARRAFZADEH, Shokouh azam; MAHLOOJIRAD, Maryam; NOURIZADEH, Maryam; CASANOVA, Jean-Laurent; POURPAK, Zahra; BUSTAMANTE, Jacinta; MOIN, Mostafa

    2016-01-01

    Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in children following BCG vaccination at birth. Regarding the vaccination program in Iran, it may consider as a public health problem. The pathogenesis of MSMD is dependent on either insufficient production of IFN-gamma (γ) or inadequate response to it. Here, we want to introduce three cases including two siblings and one girl from two unrelated families with severe mycobacterial infections referred to Immunology, Asthma and Allergy Research Institute (IAARI), from 2013 to 2015; their MSMD was confirmed by both cytokine assessment and genetic analysis. Regarding the clinical features of the patients, cell proliferation against a mitogen and BCG antigen was ordered in a lymphocyte transformation test (LTT) setting. ELISA was performed for the measurement of IL-12p70 and IFN- γ in whole blood samples activated by BCG + recombinant human IFN-γ and BCG + recombinant human IL-12, respectively. In contrast to mitogen, the antigen-dependent proliferation activity of the patients’ leukocytes was significantly lower than that in normal range. We identified a homozygous mutation in IL12RB1 gene for two kindred who had a homozygous mutation affecting an essential splice site. For the third patient, a novel frameshift deletion in IL12RB1 gene was found. The genetic study results confirmed the impaired function of stimulated lymphocytes to release IFN-γ following stimulation with BCG+IL-12 while the response to rhIFN-γ for IL-12p70 production was relatively intact. Our findings show that cellular and molecular assessments are needed for precise identification of immunodeficiency disorders especially those without clear-cut diagnostic criteria. PMID:27114990

  14. Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children.

    PubMed

    Sarrafzadeh, Shokouh Azam; Mahloojirad, Maryam; Nourizadeh, Maryam; Casanova, Jean-Laurent; Pourpak, Zahra; Bustamante, Jacinta; Moin, Mostafa

    2016-03-01

    Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare inheritance syndrome, characterized by a disseminated infection with mycobacterium in children following BCG vaccination at birth. Regarding the vaccination program in Iran, it may consider as a public health problem. The pathogenesis of MSMD is dependent on either insufficient production of IFN-gamma (γ) or inadequate response to it. Here, we want to introduce three cases including two siblings and one girl from two unrelated families with severe mycobacterial infections referred to Immunology, Asthma and Allergy Research Institute (IAARI), from 2013 to 2015; their MSMD was confirmed by both cytokine assessment and genetic analysis. Regarding the clinical features of the patients, cell proliferation against a mitogen and BCG antigen was ordered in a lymphocyte transformation test (LTT) setting. ELISA was performed for the measurement of IL-12p70 and IFN-γ in whole blood samples activated by BCG + recombinant human IFN-γ and BCG + recombinant human IL-12, respectively. In contrast to mitogen, the antigen-dependent proliferation activity of the patients' leukocytes was significantly lower than that in normal range. We identified a homozygous mutation in IL12RB1 gene for two kindred who had a homozygous mutation affecting an essential splice site. For the third patient, a novel frameshift deletion in IL12RB1 gene was found. The genetic study results confirmed the impaired function of stimulated lymphocytes to release IFN-γ following stimulation with BCG+IL-12 while the response to rhIFN-γ for IL-12p70 production was relatively intact. Our findings show that cellular and molecular assessments are needed for precise identification of immunodeficiency disorders especially those without clear-cut diagnostic criteria. PMID:27141500

  15. Alterations of platelet functions in children and adolescents with iron-deficiency anemia and response to therapy.

    PubMed

    Mokhtar, Galila M; Ibrahim, Wafaa E; Kassim, Nevine A; Ragab, Iman A; Saad, Abeer A; Abdel Raheem, Heba G

    2015-01-01

    Several changes in platelets have been reported in patients with iron-deficiency anemia (IDA), so a relationship between iron metabolism and thrombopoiesis should be considered. We aimed to study the alterations of platelet functions in patients with IDA by assessment of platelet aggregation with epinephrine, adenosine diphosphate (ADP) and ristocetin and by measuring platelet function analyzer-100 (PFA-100) closure time together with the effect of iron therapy on the same tests. A follow-up study was conducted in Ain Shams University Children's hospital in the period from June 2011 to June 2012 including 20 patients with confirmed IDA and 20 healthy age- and sex-matched control. Bleeding manifestations were reported. Laboratory analysis included complete blood count, assessment of iron status by measuring serum iron, TIBC and ferritin, assessment of platelet functions by PFA-100 closure time and platelet aggregation with collagen, ADP and ristocetin. Patients with IDA were treated by oral iron therapy 6 mg/kg/day of ferrous sulfate and post-therapeutic re-assessment was done. Mean age of IDA patients was 5.7 ± 4.2 years. Bleeding manifestations were more common in patients group. Mean PFA-100 closure times (with epinephrine) were significantly longer in patients (179.1 ± 86.4 seconds) compared to control group (115 ± 28.5 seconds) (p < 0.05). Platelet aggregation by ADP (38.1 ± 22.2%), epinephrine (19.7 ± 14.2%) and ristocetin (58.8 ± 21.4%) were significantly reduced in patients compared to control (62.7 ± 6.2, 63.3 ± 6.9, 73.8 ± 8.3, respectively; p < 0.001). After treatment platelet aggregation tests induced by ADP (64.78 ± 18.25%), and epinephrine (55.47 ± 24%) were significantly increased in patients with IDA compared to before treatment (39.44 ± 21.85%, 20.33 ± 14.58%; p < 0.001). PFA-100 closure time as well showed significant decreased after treatment (118.4 ± 27.242) compared to before treatment (186.2 ± 90.35; p < 0.05). A negative

  16. Correcting for Inflammation Changes Estimates of Iron Deficiency among Rural Kenyan Preschool Children123

    PubMed Central

    Suchdev, Parminder S.; Flores-Ayala, Rafael; Cole, Conrad R.; Ramakrishnan, Usha; Ruth, Laird J.; Martorell, Reynaldo

    2015-01-01

    The assessment of iron status where infections are common is complicated by the effects of inflammation on iron indicators and in this study we compared approaches that adjust for this influence. Blood was collected in 680 children (aged 6–35 mo) and indicators of iron status [(hemoglobin (Hb), zinc protoporphyrin (ZP), ferritin, transferrin receptor (TfR), and TfR/ferritin index)] and subclinical inflammation [(the acute phase proteins (APP) C-reactive protein (CRP), and α-1-acid glycoprotein (AGP)] were determined. Malaria parasitemia was assessed. Subclinical inflammation was defined as CRP >5 mg/L and/or AGP>1 g/L). Four groups were defined based on APP levels: reference (normal CRP and AGP), incubation (raised CRP and normal AGP), early convalescence (raised CRP and AGP), and late convalescence (normal CRP and raised AGP). Correction factors (CF) were estimated as the ratios of geometric means of iron indicators to the reference group of those for each inflammation group. Corrected values of iron indicators within inflammation groups were obtained by multiplying values by their respective group CF. CRP correlated with AGP (r = 0.65; P < 0.001), ferritin (r = 0.38; P < 0.001), Hb (r = −0.27; P < 0.001), and ZP (r = 0.16; P < 0.001); AGP was correlated with ferritin (r = 0.39; P < 0.001), Hb (r = −0.29; P < 0.001), and ZP (r = 0.24; P < 0.001). Use of CF to adjust for inflammation increased the prevalence of ID based on ferritin < 12 µg/L by 34% (from 27 to 41%). Applying the CF strengthened the expected relationship between Hb and ferritin (r = 0.10; P = 0.013 vs. r = 0.20; P < 0.001, before and after adjustment, respectively). Although the use of CF to adjust for inflammation appears indicated, further work is needed to confirm that this approach improves the accuracy of assessment of ID. PMID:22157541

  17. Seven years of follow up of trabecular bone score, bone mineral density, body composition and quality of life in adults with growth hormone deficiency treated with rhGH replacement in a single center

    PubMed Central

    Allo Miguel, Gonzalo; Serraclara Plá, Alicia; Partida Muñoz, Myriam Lorena; Martínez Díaz-Guerra, Guillermo; Hawkins, Federico

    2016-01-01

    Background: Adult growth hormone deficiency (AGHD) is characterized by impaired physical activity, diminished quality of life (QoL), weight and fat mass gain, decreased muscle mass and decreased bone mineral density (BMD). The aim of this study was to evaluate the effects of long-term treatment (7 years) with recombinant human growth hormone (rhGH) on metabolic parameters, body composition (BC), BMD, bone microarchitecture and QoL. Patients and Methods: In this prospective study, BMD and BC were assessed by dual-energy X-ray absorptiometry (DXA). Bone microarchitecture was assessed with the trabecular bone score (TBS). The QoL-AGHDA test was used to assess QoL. Results: A total of 18 AGHD patients (mean age, 37.39 ± 12.42) were included. Body weight and body mass index (BMI) showed a significant increase after 7 years (p = 0.03 and p = 0.001, respectively). There was a significant tendency of body fat mass (BFM) (p = 0.028) and lean body mass (LBM) (p = 0.005) to increase during the 7 years of rhGH treatment. There was a significant increase in lumbar spine (LS) BMD (p = 0.01). TBS showed a nonsignificant decrease after 7 years of treatment, with a change of -0.86% ± 1.95. QoL showed a large and significant improvement (p = 0.02). Conclusion: Long-term rhGH treatment in AGHD patients induces a large and sustained improvement in QoL. Metabolic effects are variable with an increase in LBM as well as in BMI and BFM. There is a positive effect on BMD based on the increase in LS BMD, which stabilizes during long-term therapy and is not associated with a similar increase in bone microarchitecture. PMID:27293538

  18. [Hormonal dysnatremia].

    PubMed

    Karaca, P; Desailloud, R

    2013-10-01

    Because of antidiuretic hormone (ADH) disorder on production or function we can observe dysnatremia. In the absence of production by posterior pituitary, central diabetes insipidus (DI) occurs with hypernatremia. There are hereditary autosomal dominant, autosomal recessive or X- linked forms. When ADH is secreted but there is an alteration on his receptor AVPR2, it is a nephrogenic diabetes insipidus in acquired or hereditary form. We can make difference on AVP levels and/or on desmopressine response which is negative in nephrogenic forms. Hyponatremia occurs when there is an excess of ADH production: it is a euvolemic hypoosmolar hyponatremia. The most frequent etiology is SIADH (syndrome of inappropriate secretion of ADH), a diagnostic of exclusion which is made after eliminating corticotropin deficiency and hypothyroidism. In case of brain injury the differential diagnosis of cerebral salt wasting (CSW) syndrome has to be discussed, because its treatment is perfusion of isotonic saline whereas in SIADH, the treatment consists in administration of hypertonic saline if hyponatremia is acute and/or severe. If not, fluid restriction demeclocycline or vaptans (antagonists of V2 receptors) can be used in some European countries. Four types of SIADH exist; 10 % of cases represent not SIADH but SIAD (syndrome of inappropriate antidiuresis) due to a constitutive activation of vasopressin receptor that produces water excess. c 2013 Published by Elsevier Masson SAS. PMID:24356291

  19. Duplication deficiency of an X-chromosome with and without 45,X mosaicism in three girls. Cytogenetic, clinical, and hormonal findings.

    PubMed

    Schwanitz, G; Tietze, H U; Pfeiffer, R A; Grosse, K P; Becker, H; Egger, H

    1977-01-01

    In three girls, aged 14, 15 and 16 years, the chromosome analysis revealed a morphologically abnormal, enlarged X-chromosome resembling in size and centromere position the chromosome no. 2. The translocation points were different in all three cases. The Barr-bodies were enlarged. In two girls a 45,X mosaicism (25% and 10%) was found in lymphocyte cultures. The length at birth was 43, 47 and 48 cm, and none of the girls was born before term. The main clinical abnormalities in all three cases were a marked growth retardation, slight morphological dysplasias, lack of sexual development and social immaturity. GH and cortisol secretion during an insulin tolerance test were normal. LH and FSH were elevated and showed an exaggerated reaction on LH-RH. Oestrogens were low normal and androgens within the normal range. At laparatomy the gonads were found to be streak gonads. For two girls cell cultures of gonadal tissue were set up, the chromosome findings of which corresponded to those of the lymphocyte cultures. The abnormality of the gonosomes reported here seems to represent a special form of gonadal dysgenesis. Although the translocation points were different in the three patients and one had no mosaic, while the other two showed 45,X/46,XX mosaicism, the clinical and hormonal findings were nearly the same for all three girls. PMID:613693

  20. Clinical significance of complement deficiencies.

    PubMed

    Pettigrew, H David; Teuber, Suzanne S; Gershwin, M Eric

    2009-09-01

    The complement system is composed of more than 30 serum and membrane-bound proteins, all of which are needed for normal function of complement in innate and adaptive immunity. Historically, deficiencies within the complement system have been suspected when young children have had recurrent and difficult-to-control infections. As our understanding of the complement system has increased, many other diseases have been attributed to deficiencies within the complement system. Generally, complement deficiencies within the classical pathway lead to increased susceptibility to encapsulated bacterial infections as well as a syndrome resembling systemic lupus erythematosus. Complement deficiencies within the mannose-binding lectin pathway generally lead to increased bacterial infections, and deficiencies within the alternative pathway usually lead to an increased frequency of Neisseria infections. However, factor H deficiency can lead to membranoproliferative glomerulonephritis and hemolytic uremic syndrome. Finally, deficiencies within the terminal complement pathway lead to an increased incidence of Neisseria infections. Two other notable complement-associated deficiencies are complement receptor 3 and 4 deficiency, which result from a deficiency of CD18, a disease known as leukocyte adhesion deficiency type 1, and CD59 deficiency, which causes paroxysmal nocturnal hemoglobinuria. Most inherited deficiencies of the complement system are autosomal recessive, but properidin deficiency is X-linked recessive, deficiency of C1 inhibitor is autosomal dominant, and mannose-binding lectin and factor I deficiencies are autosomal co-dominant. The diversity of clinical manifestations of complement deficiencies reflects the complexity of the complement system. PMID:19758139

  1. Feeding practices and factors contributing to wasting, stunting, and iron-deficiency anaemia among 3-23-month old children in Kilosa district, rural Tanzania.

    PubMed

    Mamiro, Peter S; Kolsteren, Patrick; Roberfroid, Dominique; Tatala, Simon; Opsomer, Ann S; Van Camp, John H

    2005-09-01

    Infants in Tanzania are particularly vulnerable to under-nutrition during transition from breastmilk (as the only source of nourishment) to solid foods. A cross-sectional study was undertaken in Kilosa district in Tanzania to determine the feeding practices and the extent of wasting, stunting, and iron-deficiency anaemia. The study was done in two stages: in the first stage, a 24-hour dietary assessment was conducted to identify the type of complementary foods given and the eating habits according to age for 378 children aged 3-23 months. In the second stage, a progressive recruitment of 309 infants aged six months was made to measure weight, length, haemoglobin (Hb) concentration, zinc protoporphyrin concentration, and malaria parasitaemia. Birth-weight, the potential contributing factor to under-nutrition and iron-deficiency anaemia, was obtained from the children's clinic cards. The 24-hour dietary assessment revealed that children consumed mainly a thin porridge prepared from maize flour as complementary food. Carbohydrates contributed most energy (on average 69%), followed by fats (18.6%) and protein (on average 12.1%). The complementary food co-vered only 15%, 20%, and 27% of the recommended iron intake for children aged 6-8, 9-11 and 12-23 months respectively. The mean Hb concentration was 9.3 +/- 1.9 g/dL, 68% of the infants were moderately anaemic (7 < or =11 g/dL), and about 11% were severely anaemic with Hb below 7 g/dL, while 21% were non-anaemic Hb (> or =11 g/dL). Equally, the mean zinc protoporphyrin concentration was 10.0 +/- 6.2 microg/g Hb, and 76% of the infants were iron-deficient (>5 microg/g Hb). The prevalence of stunting was 35%, while wasting was only 1.3%. Low birth-weight and low body mass index of mothers were the strong predictors of stunting, whereas low birth-weight and iron-deficiency were the strong predictors of anaemia. The prevalence of malaria parasitaemia was high, affecting 50% of the infants. Having malaria was the only

  2. Favism, the commonest form of severe hemolytic anemia in Palestinian children, varies in severity with three different variants of G6PD deficiency within the same community.

    PubMed

    Reading, N Scott; Sirdah, Mahmoud M; Shubair, Mohammad E; Nelson, Benjamin E; Al-Kahlout, Mustafa S; Al-Tayeb, Jamal M; Aboud, Lina N; Shaban, Maysaa Abu; Luzzatto, Lucio; Prchal, Josef T

    2016-09-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common genetic abnormality known to predispose to acute hemolytic anemia (AHA), which can be triggered by certain drugs or infection. However, the commonest trigger is fava beans (Vicia faba) ingestion, causing AHA (favism), which may be life-threatening especially in children. G6PD deficiency is genetically highly heterogeneous, as nearly 200 different mutations have been observed. We have investigated the hematological features of acute favism in the Palestinian Gaza community that is characterized by the polymorphic coexistence of three different G6PD deficiency genes (G6PD A-, G6PD Cairo, G6PD Med). We have found by comparison to the general population (485 adults and 466 newborns) that children with favism, in terms of relative frequency, G6PD A- was under-represented, whereas G6PD Med was over-represented. We also found that the severity of anemia was significantly greater with G6PD Med and G6PD Cairo than with G6PD A-; and with G6PD Cairo, compared to the other two variants, there was greater hyperbilirubinemia, as well as persistence of mild anemia and reticulocytosis for as long as 4months after recovery from favism. This is the first report determining a differential impact of different G6PD mutations on the clinical features of favism in the same population and the same environment. PMID:27519946

  3. Sex Differences in Somatotrope Dependency on Leptin Receptors in Young Mice: Ablation of LEPR Causes Severe Growth Hormone Deficiency and Abdominal Obesity in Males.

    PubMed

    Allensworth-James, Melody L; Odle, Angela; Haney, Anessa; Childs, Gwen

    2015-09-01

    Leptin receptor (LEPR) signaling controls appetite and energy expenditure. Somatotrope-specific deletion of the LEPRb signaling isoform causes GH deficiency and obesity. The present study selectively ablated Lepr exon 1 in somatotropes, which removes the signal peptide, causing the loss of all isoforms of LEPR. Excision of Lepr exon 1 was restricted to the pituitary, and mutant somatotropes failed to respond to leptin. Young (2-3 mo) males showed a severe 84% reduction in serum GH levels and more than 60% reduction in immunolabeled GH cells compared with 41%-42% reductions in GH and GH cells in mutant females. Mutant males (35 d) and females (45 d) weighed less than controls and males had lower lean body mass. Image analysis of adipose tissue by magnetic resonance imaging showed that young males had a 2-fold increase in abdominal fat mass and increased adipose tissue density. Young females had only an overall increase in adipose tissue. Both males and females showed lower energy expenditure and higher respiratory quotient, indicating preferential carbohydrate burning. Young mutant males slept less and were more restless during the dark phase, whereas the opposite was true of females. The effects of a Cre-bearing sire on his non-Cre-recombinase bearing progeny are seen by increased respiratory quotient and reduced litter sizes. These studies elucidate clear sex differences in the extent to which somatotropes are dependent on all isoforms of LEPR. These results, which were not seen with the ablation of Lepr exon 17, highlight the severe consequences of ablation of LEPR in male somatotropes. PMID:26168341

  4. Evolution of Growth Hormone Devices: Matching Devices with Patients.

    PubMed

    Raimer-Hall, Dawn; Shea, Heidi Chamberlain

    2015-01-01

    Self-injection of growth hormone (GH) by children with GH deficiency can be problematic. They may have difficulty manipulating injection devices or preparing medication, and injections can be painful and create anxiety. Adherence to daily GH injections optimizes treatment benefit. Studies indicate that injection pens or needle-free devices enable easy self-injection by children, minimize medication reconstitution and storage requirements, and reduce injection pain. Newer GH delivery devices potentially encourage improved patient adherence. Reviewing features of GH devices will help nurses decide which GH device best fits the needs and abilities of pediatric patients. We searched recent medical literature about GH device development, about device-associated patient preferences and treatment adherence, and comparisons among GH devices. We concluded that improved awareness of the strengths and limitations of GH devices will enable nurses to guide families in selecting and using GH devices, improving adherence and outcomes, and helping children reach full growth potential. PMID:26292454

  5. α-Thalassemia frequency and mutations in children with hypochromic microcytic anemias and relation with β-thalassemia, iron deficiency anemia.

    PubMed

    Gulen, Huseyin; Hanimeli, Ozlem; Karaca, Ozlem; Taneli, Fatma

    2012-04-01

    The majority of the anemias during childhood are hypochromic and microcytic. The aim of the present study was to determine the status of α-thalassemia mutations and its association with other etiologies, such as iron deficiency anemia (IDA) and β-thalassemia trait, that are frequently seen hypochromic microcytic anemias in children. Children with hypochromic microcytic anemias were included in the study. Serum iron (SI), total iron-binding capacity (TIBC), ferritin levels, and hemoglobin electrophoresis with high-performance liquid chromatography (HPLC) method were analyzed. Reverse hybridization of biotinylated polymerase chain reaction (PCR) product method was used for detection of α-globin gene mutations. Of the 46 patients involved in the study, 54.3% (n = 25) were boys, and 45.7% (n = 21) were girls. Iron deficiency anemia and β-thalassemia trait were diagnosed in 67.4% (n = 31) and 19.5% (n = 9), respectively. In 17.4% there were α-thalassemia mutations (in 10.9% 3.7 single-gene heterozygote mutation, in 4.3% 20.5-kb double-gene deletion mutation, and in 2.2% α-2 poly-A-1 heterozygote mutation was detected). In 2 patients (4.3%) no etiology was determined. In 2 patients (4.3%) association between iron deficiency anemia and α-thalassemia, in 1 patient (2.2%) association between β and α-thalassemia was detected. In conclusion, α-thalassemia carrier status and its association with other etiologies are frequently seen in Manisa. So, α-thalassemia should be considered in the differential diagnosis of hypochromic microcytic anemias, especially in cases without iron deficiency (ID) and β-thalassemia carrier state. PMID:22475300

  6. Profile of mecasermin for the long-term treatment of growth failure in children and adolescents with severe primary IGF-1 deficiency

    PubMed Central

    Fintini, Danilo; Brufani, Claudia; Cappa, Marco

    2009-01-01

    Growth hormone insensitivity syndrome (GHI) or insulin-like growth factor-1 (IGF-1) deficiency (IGFD) is characterized by deficit of IGF-1 production due to alteration of response of growth hormone (GH) receptor to GH. This syndrome is due to mutation of GH receptor or IGF-1 gene and patients affected showed no response to GH therapy. The only treatment is recombinant IGF-1 (mecasermin), which has been available since 1986, but approved in the United States by the US Food and Drug Administration only in 2005 and in Europe by the European Medicines Agency in 2007. To date, few studies are available on long-term treatment with mecasermin in IGFD patients and some of them have a very small number of subjects. In this review we discuss briefly clinical features of severe primary IGFD, laboratory findings, and indications for treatment. Results of long-term therapy with rhIGF1 (mecasermin) in patients affected by severe primary IGFD and possible side effects are explained. PMID:19707272

  7. Seasonal variations in calcidiol and parathyroid hormone levels in healthy children and adolescents in Navarre, Spain: a cross-sectional study

    PubMed Central

    Gallinas-Victoriano, Fidel

    2016-01-01

    Objective To analyze the seasonal variations in calcidiol and parathyroid hormone serum levels along a natural year in a paediatric population living in a region of the north of Spain considering a normal nutrition status. Design A cross-sectional study. Setting Navarra Hospital Complex, Pamplona, Spain. Participants A total of 413 Caucasian individuals (aged 3.1 to 15.4 years): 227 school children (96 males and 131 females) and 186 adolescents (94 males and 92 females), with normal nutritional status. Main outcome measures Clinical examination (sex, age, weight, height and body mass index) and blood testing (calcium, phosphate, alkaline phosphatase, calcidiol and parathyroid hormone) during the year 2014. Results Calcidiol levels were lower during spring (25.96 ± 6.64 ng/mL) and reached its maximum level in summer (35.33 ± 7.51 ng/mL); parathyroid hormone levels were lower in summer (27.13 ± 7.89 pg/mL) and reached maximum level in autumn (34.73 ± 15.38 pg/mL). Hypovitaminosis D prevalence was 14.3% in summer and 75.3% in spring. Parathyroid hormone levels were compatible with secondary hyperparathyroidism in eight individuals (1.9%). There is a correlation (p < 0.01) between calcidiol and parathyroid hormone (r = −0.336). Logistic regression showed significant increased risk of hypovitaminosis in females (OR:1.63) and adolescents (OR:1.77), and when blood samples taken in autumn (OR:12.22), winter (OR:8.54) and spring (OR:19.72). Conclusions There is a high prevalence of hypovitaminosis D in the paediatric population with a healthy nutrition situation in Navarre, mainly during the months of autumn and winter, and, especially, in spring time. Given the difficulties in maintaining a sufficient amount of body vitamin D content along the year, it should be considered to give vitamin supplements and/or increase the intake of its natural dietary sources or vitamin D fortified foods. PMID:27066262

  8. [Dietary iodine intake in children and clinical and biochemical features of iodine deficiency in chosen districts of south-east Poland].

    PubMed

    Tylek, D; Rybakowa, M; Sołtysik-Wilk, E; Ratajczak, R; Dłuzniewska, K; Zygmunt, A; Szczepaniak, B

    1992-01-01

    The study on the effects of Czarnobyl accident on thyroid gland function in children (MZ XVII program) revealed a high incidence of goiter in the population of children in district Kraków and Nowy Sacz. Other study on Tarnobrzeg population showed that the frequency of goiter in school children was 67%. The goiter prevalence, urine iodine excretion and iodine food consumption in the same populations were compared. The detailed investigation of iodine intake in children by feeding questionnaire shows a low consumption of iodine. The urine iodine excretion in the population of Kraków-district was low, but higher than in Nowy Sacz-district and nearly normal in Tarnobrzeg. High frequency of goiter in children and of IDD in newborns screened for CH, as well as low urine iodine excretion, together with low iodine intake with food are the markers of iodine deficiency in Kraków and Nowy Sacz districts. The improvement of feeding as well as iodine salt supplementation is necessary. The situation in Tarnobrzeg district looks differently and needs additional study. PMID:1345589

  9. Investigation of hemorheological parameters at the diagnosis and the follow-up of nutritional vitamin B12 deficient children.

    PubMed

    Tancer-Elci, Hazal; Isik-Balci, Yasemin; Bor-Kucukatay, Melek; Kilic-Toprak, Emine; Kilic-Erkek, Ozgen; Senol, Hande; Aybek, Hülya

    2015-01-01

    We aimed to investigate the effects of vitamin B12 deficiency on hemorheological parameters, and the changes in these parameters following vitamin B12 treatment. 33 patients (mean-age:7 ± 5.7 years) diagnosed as nutritional vitamin B12 deficiency, and 31 age and sex matched controls (mean-age:7.1 ± 5.2 years) were enrolled. Erythrocyte deformability and aggregation were determined by an ectacytometer, plasma and whole blood viscosities by a cone-plate rotational viscometer. The differences between patients and controls were compared. Hemorheological parameters were repeated in the patient group following vitamin B12 treatment, and the results were compared with the initial results. In vitamin B12 deficiency, erythrocyte deformability and whole blood viscosity were found to be significantly decreased, eythrocyte aggregation was found to be significantly increased compared with the controls. Plasma viscosity was found to be decreased in deficiency but this decrease was not statistically significant. In patient group, erythrocyte deformability, whole blood and plasma viscosities were found to be significantly increased and erythrocyte aggregation was significantly decreased, after treatment. This study indicates that vitamin B12 deficiency has important effects on hemorheological parameters and adequate treatment of deficiency not only corrects the hematological parameters, but also by helping to normalize the hemorheological parameters, may contribute to the regulation of microvascular perfusion. PMID:23719423

  10. Long-term effects of cranial irradiation on endocrine function in children with brain tumors. A prospective study

    SciTech Connect

    Duffner, P.K.; Cohen, M.E.; Voorhess, M.L.; MacGillivray, M.H.; Brecher, M.L.; Panahon, A.; Gilani, B.B.

    1985-11-01

    This study prospectively evaluated the endocrine function of 11 children treated with cranial irradiation (CRT) for brain tumors. All tumors were remote from the hypothalamic-pituitary axis. Children were studied before treatment and at 3, 6, and 12 months after the completion of CRT. T4, thyroid-stimulating hormone, prolactin, plasma cortisol, and urinary follicle-stimulating hormone and luteinizing hormone values were normal before and after treatment in all patients. Growth hormone (GH) deficiency was identified in 0 of 7 patients before treatment, in 2 of 7 patients 3 months post-CRT, in 9 of 11 patients 6 months post-CRT, and in 7 of 8 patients 12 months post-CRT. Growth deceleration was identified in five of seven prepubertal patients. GH deficiency is an extremely common sequelae of CRT, beginning as early as 3 months after the completion of CRT. The deficit is progressive over time.

  11. Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation

    PubMed Central

    Bar, Céline; Zadro, Charline; Diene, Gwenaelle; Oliver, Isabelle; Pienkowski, Catherine; Jouret, Béatrice; Cartault, Audrey; Ajaltouni, Zeina; Salles, Jean-Pierre; Sevely, Annick; Tauber, Maithé; Edouard, Thomas

    2015-01-01

    Background Patients with pituitary stalk interruption syndrome (PSIS) are initially referred for hypoglycemia during the neonatal period or growth retardation during childhood. PSIS is either isolated (nonsyndromic) or associated with extra-pituitary malformations (syndromic). Objective To compare baseline characteristics and long-term evolution in patients with PSIS according to the initial presentation. Study Design Sixty-seven patients with PSIS were included. Data from subgroups were compared: neonates (n = 10) versus growth retardation patients (n = 47), and syndromic (n = 32) versus nonsyndromic patients (n = 35). Results Neonates displayed a more severe hormonal and radiological phenotype than children referred for growth retardation, with a higher incidence of multiple hormonal deficiencies (100% versus 34%; P = 0.0005) and a nonvisible anterior pituitary lobe (33% versus 2%; P = 0.0017). Regular follow-up of growth might have allowed earlier diagnosis in the children with growth retardation, as decreased growth velocity and growth retardation were present respectively 3 and 2 years before referral. We documented a progressive worsening of endocrine impairment throughout childhood in these patients. Presence of extra-pituitary malformations (found in 48%) was not associated with more severe hormonal and radiological characteristics. Growth under GH treatment was similar in the patient groups and did not vary according to the pituitary MRI findings. Conclusions PSIS diagnosed in the neonatal period has a particularly severe hormonal and radiological phenotype. The progressive worsening of endocrine impairment throughout childhood justifies periodic follow-up to check for additional hormonal deficiencies. PMID:26562670

  12. Relationship between nocturnal growth hormone concentrations, serum IGF-I/IGFBP-3 levels, insulin sensitivity and GH receptor allelic variant in small for gestational age children.

    PubMed

    Mericq, Verónica; Román, Rossana; Iñiguez, Germán; Angel, Bárbara; Salazar, Teresa; Avila, Alejandra; Perez-Bravo, Francisco; Cassorla, Fernando

    2007-01-01

    Growth hormone may help to increase final height in patients with short stature, but its efficacy is variable. It has been recently reported that the isoform of the GH receptor (GHR) that lacks exon 3 (d3-GHR) is associated with a greater growth response to GH therapy. We hypothesized that nocturnal growth hormone concentrations, basal IGF-I and IGFBP-3 levels, and insulin sensitivity might show variations among individuals depending on their GHR allelic variant. To test this hypothesis, we studied 38 prepubertal LBW children with nocturnal GH concentrations, IGF-I and IGFBP-3 levels and insulin sensitivity during OGTT and Insulin test. The GHR allelic variant was analyzed through multiplex PCR analysis in DNA from peripheral leukocytes. Characteristics of the overnight GH secretion [(mean GH: 6.8 +/- 0.6 vs. 6.2 +/- 0.5 ng/ml), (AUC: 3,227 +/- 280 vs. 2,908 +/- 212 ng/ml.min), (peak number: 4.4 +/- 0.3 vs. 4.4 +/- 0.2), (amplitude: 12 +/- 1.1 vs. 10.8 +/- 1.1 ng/ml)] did not differ between groups (f1/f1 vs. f1/d3 plus d3/d3). In addition, we did not observe any significant differences in serum IGF-I SDS (-0.49 +/- 0.26 vs. -0.40 +/- 0.35) or IGFBP-3 SDS (-1.21 +/- 0.24 vs. -0.89 +/- 0.21) nor in insulin sensitivity (WIBSI: 12 +/- 1.2 vs. 10.8 +/- 1.1) in LBW children with full length GHR compared to children carrying at least one GHRd3 allele. The distribution of the f1/f1 allelic variant and fi/d3 or d3/d3 was similar in the LBW children with or without catch-up growth. These results suggest that the GHR allelic variant does not play a significant role in the regulation of GH-IGF-I/BP3 axis or in insulin sensitivity in prepubertal LBW children. PMID:17347571

  13. Prognostic factors for health-related quality of life in adults and children with primary antibody deficiencies receiving SCIG home therapy.

    PubMed

    Gardulf, A; Borte, M; Ochs, H D; Nicolay, U

    2008-01-01

    The aims of the present study were to evaluate the health-related quality of life (HRQL) and treatment satisfaction (TS) of adults and children with primary antibody deficiencies (PAD) before and after the introduction of subcutaneous immunoglobulin G (SCIG) self-infusions at home and to identify prognostic factors (demographic/social, medical, patient/parent reported) for HRQL. 85 adults and 21 parents of children with PAD answered the SF-36 (adults), CHQ-PF50 (parents), and the LQI (adults and parents) at baseline and following 10 months of weekly self-administered SCIG infusions at home. The SCIG home therapy was associated with significant improvements in HRQL and TS, particularly in patients who had previously received IVIG therapy in hospital settings. Background factors that were found to be associated with HRQL changes in adults were age, serum IgG levels at month 10, concomitant joint/muscle/skeletal disorders, clinical study location and smoking status. PMID:17964220

  14. Motor Activity and Intra-Individual Variability According to Sleep-wake States in Preschool-aged Children with Iron-Deficiency Anemia in Infancy

    PubMed Central

    Angulo-Barroso, R.M.; Peirano, P.; Algarin, C.; Kaciroti, N.; Lozoff, B.

    2013-01-01

    Background A chronic or acute insult may affect the regulatory processes that guide motor and behavioral performance, leading to increased intra-individual variability (IIV). Increased variability is often interpreted as an indication of regulatory dysfunction. Iron plays an important role in the regulatory processes of the nervous system and affects motor activity. To our knowledge, no study has examined the long-lasting patterns and IIV of motor activity following iron-deficiency anemia in human infants. Aims This study compared 48-hour motor activity and variability in preschool-aged children with or without iron-deficiency anemia (IDA) in infancy. Methods Motor activity was recorded through actigraphs during two week-days in 47 4-year-old Chilean children (23 former IDA and 24 non-anemic in infancy). All were given oral iron as infants. Sleep-wake states were identified by means of automated software. The frequency of movement units per minute was determined for each waking/sleep state during the individual day and night periods; data were examined in blocks of 15 minutes. Analyses of mean frequency and duration and intra-individual variability were conducted using multivariate mixed models. Results For daytime sleep, former IDA children were more active without a difference in the total duration. They also spent less time awake throughout the individual day period. Motor activity intra-individual variability was higher in former IDA children. Conclusions The findings suggest that IDA in infancy sets the stage for long lasting dysfunction in the neural processes regulating sleep-wake states and spontaneous motor activity patterns. PMID:24041817

  15. Whole cowpea meal fortified with NaFeEDTA reduces iron deficiency among Ghanaian school children in a malaria endemic area.

    PubMed

    Abizari, Abdul-Razak; Moretti, Diego; Zimmermann, Michael B; Armar-Klemesu, Margaret; Brouwer, Inge D

    2012-10-01

    Cowpeas, like other legumes, contain high amounts of native iron but are rich in phytic acid (PA) and polyphenols (PP) that inhibit iron absorption. NaFeEDTA may overcome the combined inhibitory effect of PA and PP. Our objective was to test the efficacy of NaFeEDTA-fortified cowpea meal in improving iron status of school children in a malaria endemic area. We conducted a double-blind, controlled trial with 5- to 12-y-old school children from 2 rural communities in northern Ghana (n = 241). Eligible children were randomly assigned to 2 treatment groups to receive either cowpea meal fortified with 10 mg Fe/meal as NaFeEDTA, or an identical but nonfortified cowpea meal. Meals were provided 3 d/wk for a period of ~7 mo under strict supervision. Mass deworming and malaria antigenemia screening and treatment were carried out at baseline and 3.5 mo into the trial. Consumption of cowpea flour fortified with NaFeEDTA resulted in improvement of hemoglobin (P < 0.05), serum ferritin (P < 0.001), and body iron stores (P < 0.001) and reduction of transferrin receptor (P < 0.001) compared with nonfortified flour. Fortification resulted in a 30 and 47% reduction in the prevalence of iron deficiency (ID) and iron deficiency anemia (IDA) (P < 0.05), respectively. The results indicate that fortification of cowpea flour with NaFeEDTA overcomes the combined inhibitory effect of PA and PP and, when used for targeted school-based fortification of cowpea flour, is effective in reducing the prevalence of ID and IDA among school children in malaria endemic rural northern Ghana. PMID:22915294

  16. Congenital limb deficiency disorders.

    PubMed

    Wilcox, William R; Coulter, Colleen P; Schmitz, Michael L

    2015-06-01

    Congenital limb deficiency disorders (LDDs) are birth defects characterized by the aplasia or hypoplasia of bones of the limbs. Limb deficiencies are classified as transverse, those due to intrauterine disruptions of previously normal limbs, or longitudinal, those that are isolated or associated with certain syndromes as well as chromosomal anomalies. Consultation with a medical geneticist is advisable. Long-term care should occur in a specialized limb deficiency center with expertise in orthopedics, prosthetics, and occupational and physical therapy and provide emotional support and contact with other families. With appropriate care, most children with LDDs can lead productive lives. PMID:26042905

  17. Prevalence of anemia and deficiency of iron, folic acid, and zinc in children younger than 2 years of age who use the health services provided by the Mexican Social Security Institute

    PubMed Central

    Duque, Ximena; Flores-Hernández, Sergio; Flores-Huerta, Samuel; Méndez-Ramírez, Ignacio; Muñoz, Sergio; Turnbull, Bernardo; Martínez-Andrade, Gloria; Ramos, Rosa I; González-Unzaga, Marco; Mendoza, María E; Martínez, Homero

    2007-01-01

    Background In Mexico, as in other developing countries, micronutrient deficiencies are common in infants between 6 and 24 months of age and are an important public health problem. The objective of this study was to determine the prevalence of anemia and of iron, folic acid, and zinc deficiencies in Mexican children under 2 years of age who use the health care services provided by the Mexican Institute for Social Security (IMSS). Methods A nationwide survey was conducted with a representative sample of children younger than 2 years of age, beneficiaries, and users of health care services provided by IMSS through its regular regimen (located in urban populations) and its Oportunidades program (services offered in rural areas). A subsample of 4,955 clinically healthy children was studied to determine their micronutrient status. A venous blood sample was drawn to determine hemoglobin, serum ferritin, percent of transferrin saturation, zinc, and folic acid. Descriptive statistics include point estimates and 95% confidence intervals for the sample and projections for the larger population from which the sample was drawn. Results Twenty percent of children younger than 2 years of age had anemia, and 27.8% (rural) to 32.6% (urban) had iron deficiency; more than 50% of anemia was not associated with low ferritin concentrations. Iron stores were more depleted as age increased. Low serum zinc and folic acid deficiencies were 28% and 10%, respectively, in the urban areas, and 13% and 8%, respectively, in rural areas. The prevalence of simultaneous iron and zinc deficiencies was 9.2% and 2.7% in urban and rural areas. Children with anemia have higher percentages of folic acid deficiency than children with normal iron status. Conclusion Iron and zinc deficiencies constitute the principal micronutrient deficiencies in Mexican children younger than 2 years old who use the health care services provided by IMSS. Anemia not associated with low ferritin values was more prevalent than

  18. Krüppel-Like Factor 13 Deficiency in Uterine Endometrial Cells Contributes to Defective Steroid Hormone Receptor Signaling but Not Lesion Establishment in a Mouse Model of Endometriosis.

    PubMed

    Heard, Melissa E; Velarde, Michael C; Giudice, Linda C; Simmen, Frank A; Simmen, Rosalia C M

    2015-06-01

    Krüppel-like Factor (KLF) 13 and the closely related KLF9 are members of the Sp/KLF family of transcription factors that have collectively emerged as essential regulators of tissue development, differentiation, proliferation, and programmed cell death. Steroid hormone-responsive tissues express multiple KLFs that are linked to progesterone receptor (PGR) and estrogen receptor (ESR) actions either as integrators or as coregulators. Endometriosis is a chronic disease characterized by progesterone resistance and dysregulated estradiol signaling; nevertheless, distinct KLF members' contributions to endometriosis remain largely undefined. We previously demonstrated promotion of ectopic lesion establishment by Klf9 null endometrium in a mouse model of endometriosis. Here we evaluated whether KLF13 loss of expression in endometrial cells may equally contribute to lesion formation. KLF13 transcript levels were lower in the eutopic endometria of women with versus women without endometriosis at menstrual midsecretory phase. In wild-type (WT) mouse recipients intraperitoneally administered WT or Klf13 null endometrial fragments, lesion incidence did not differ with donor genotype. No differences were noted for lesion volume, number, proliferation status, and apoptotic index as well. Klf13 null lesions displayed reduced total PGR and ESR1 (RNA and immunoreactive protein) and altered expression of several PGR and ESR1 target genes, relative to WT lesions. Unlike for Klf9 null lesions, changes in transcript levels for PGR-A, ESR1, and Notch/Hedgehog-associated pathway components were not observed for Klf13 null lesions. Results demonstrate lack of a causative relationship between endometrial KLF13 deficiency and lesion establishment in mice, and they support the broader participation of multiple signaling pathways, besides those mediated by steroid receptors, in the pathology of endometriosis. PMID:25904015

  19. Prevalence and Predictors of Iron Deficiency Anemia in Children under Five Years of Age in Pakistan, A Secondary Analysis of National Nutrition Survey Data 2011–2012

    PubMed Central

    Habib, Muhammad Atif; Black, Kirsten; Soofi, Sajid Bashir; Hussain, Imtiaz; Bhatti, Zaid; Bhutta, Zulfiqar A.; Raynes-Greenow, Camille

    2016-01-01

    Background Iron deficiency Anemia (IDA) in children is a recognized public health problem that impacts adversely on child morbidity, mortality and impairs cognitive development. In Pakistan information on the true prevalence and predictors of IDA is limited. This study sought to investigate IDA in children under five years of age using data from a nationally representative stratified cross-sectional survey. Methods Secondary analysis was performed on the National Nutrition Survey in Pakistan 2011–2012. We used a pre-structured instrument to collect socio demographic and nutritional data on mothers and children. We also collected Anthropometric measurements and blood samples for micronutrient deficiencies. IDA was defined as having both haemoglobin levels of <110 g/L and ferritin levels of < 12 μg/L. Data analysis was performed by applying univariate and multivariate techniques using logistic regression through SPSS. Findings A total of 7138 children aged between 6–59 months were included in the analysis. The prevalence of IDA was 33.2%. In multivariate regression analysis adjusted odds ratios (AOR) were calculated. Age < 24 months (AOR 1.40, 95% CI 1.18–1.55 p <0.05), stunting (AOR 1.42 CI 1.23–1.63 p<0.05), presence of clinical anemia (AOR 5.69 CI 4.93–6.56 p<0.05), having a mother with IDA (AOR 1.72 CI 1.47–2.01 p<0.05) and household food insecurity (AOR 1.20 CI 1.10–1.40 P<0.05) were associated with IDA. Living in a rural area (AOR 0.77 CI 0.65–0.90 p<0.05) and being a female child (AOR 0.87 CI 0.76–0.98 p<0.05) were associated with reduced odds of IDA. Conclusion The prevalence of IDA amongst Pakistani children represents a moderate burden that disproportionately affects the youngest, growth retarded children, affected children are more likely to have mothers with IDA and live in areas where food security is lacking. National efforts to alleviate the burden of IDA should involve both short term vertical programs such as iron supplementation

  20. Efficacy of single serum cortisol reading obtained between 9 AM and 10 AM as an index of adrenal function in children treated with glucocorticoids or synthetic adrenocorticotropic hormone.

    PubMed

    Goto, Masahiro; Shibata, Nao; Hasegawa, Yukihiro

    2016-07-01

    To find a simple method to screen for iatrogenic childhood adrenal insufficiency, we retrospectively examined the results of CRH stimulation tests performed 212 times on 111 subjects (68 males; age at commencement of initial treatment ranged 0.0-19.8 yr; median age, 5.8 yr). Before the commencement of this study, 97 subjects had been treated with glucocorticoids and 14 subjects with West syndrome had been treated with synthetic adrenocorticotropic hormone. Duration of the primary treatment ranged from 15 to 2150 days. CRH stimulation tests were conducted between 09:00 AM and 10:00 AM and peak cortisol values less than 15 µg/dL were considered indicative of adrenal insufficiency. The receiver operating characteristic curve showed that the optimal basal serum cortisol cut-off values when screening for adrenal suppression ranged from 5.35 to 5.80 µg/dL depending on the primary disease. All subjects having a serum cortisol value of less than 2.3 µg/dL had insufficient adrenal function while all subjects having greater than 11 µg/dL had intact adrenal function. We concluded that single serum cortisol values obtained between 09:00 AM and 10:00 AM had the potential to serve as an index of adrenal function in children treated with glucocorticoids or synthetic adrenocorticotropic hormone. PMID:27507908

  1. Efficacy of single serum cortisol reading obtained between 9 AM and 10 AM as an index of adrenal function in children treated with glucocorticoids or synthetic adrenocorticotropic hormone

    PubMed Central

    Goto, Masahiro; Shibata, Nao; Hasegawa, Yukihiro

    2016-01-01

    Abstract. To find a simple method to screen for iatrogenic childhood adrenal insufficiency, we retrospectively examined the results of CRH stimulation tests performed 212 times on 111 subjects (68 males; age at commencement of initial treatment ranged 0.0–19.8 yr; median age, 5.8 yr). Before the commencement of this study, 97 subjects had been treated with glucocorticoids and 14 subjects with West syndrome had been treated with synthetic adrenocorticotropic hormone. Duration of the primary treatment ranged from 15 to 2150 days. CRH stimulation tests were conducted between 09:00 AM and 10:00 AM and peak cortisol values less than 15 µg/dL were considered indicative of adrenal insufficiency. The receiver operating characteristic curve showed that the optimal basal serum cortisol cut-off values when screening for adrenal suppression ranged from 5.35 to 5.80 µg/dL depending on the primary disease. All subjects having a serum cortisol value of less than 2.3 µg/dL had insufficient adrenal function while all subjects having greater than 11 µg/dL had intact adrenal function. We concluded that single serum cortisol values obtained between 09:00 AM and 10:00 AM had the potential to serve as an index of adrenal function in children treated with glucocorticoids or synthetic adrenocorticotropic hormone. PMID:27507908

  2. Genetics Home Reference: GM3 synthase deficiency

    MedlinePlus

    ... GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first ... diagnosis or management of GM3 synthase deficiency: American Epilepsy Society: Find a Doctor Clinic for Special Children ( ...

  3. Determinants of Iron Deficiency Anemia in a Cohort of Children Aged 6-71 Months Living in the Northeast of Minas Gerais, Brazil

    PubMed Central

    Zanin, Francisca Helena Calheiros; da Silva, Camilo Adalton Mariano; Bonomo, Élido; Teixeira, Romero Alves; Pereira, Cíntia Aparecida de Jesus; dos Santos, Karina Benatti; Fausto, Maria Arlene; Negrão-Correa, Deborah Aparecida; Lamounier, Joel Alves; Carneiro, Mariângela

    2015-01-01

    Iron deficiency anemia is one of the most common nutritional disorders worldwide. The aim was to identify the prevalence and incidence of anemia in children and to identify predictors of this condition, including intestinal parasites, social, nutritional and environmental factors, and comorbidities. A population-based cohort study was conducted in a sample of 414 children aged 6–71 months living in Novo Cruzeiro in the Minas Gerais State. Data were collected in 2008 and 2009 by interview and included socio-economic and demographic information about the children and their families. Blood samples were collected for testing of hemoglobin, ferritin and C-reactive protein. Anthropometric measurements and parasitological analyses of fecal samples were performed. To identify risk factors associated with anemia multivariate analyses were performed using the generalized estimating equations (GEE). In 2008 and 2009, respectively, the prevalence rates of anemia were 35.9% (95%CI 31.2–40.8) and 9.8% (95%CI 7.2–12.9), the prevalence rates of iron deficiency were 18.4% (95%CI 14.7–22.6) and 21.8% (95%CI 17.8–26.2), and the incidence rates of anemia and iron deficiency were 3.2% and 21.8%. The following risk factors associated with anemia were: iron deficiency (OR = 3.2; 95%CI 2.0-.5.3), parasitic infections (OR = 1.9; 95%CI 1.2–2.8), being of risk of or being a low length/height-for-age (OR = 2.1; 95%CI 1.4–3.2), and lower retinol intake (OR = 1.7; 95%CI 1.1–2.7), adjusted over time. Nutritional factors, parasitic infections and chronic malnutrition were identified as risk factors for anemia. These factors can be verified in a chronic process and have been classically described as risk factors for these conditions. PMID:26445270

  4. Nutritional Iron Deficiency Anemia: Magnitude and Its Predictors among School Age Children, Southwest Ethiopia: A Community Based Cross-Sectional Study

    PubMed Central

    Desalegn, Amare; Mossie, Andualem; Gedefaw, Lealem

    2014-01-01

    Background Iron deficiency anemia (IDA) is a global public health problem among school age children, which retards psychomotor development and impairs cognitive performance. There is limited data on prevalence and risk factors for IDA. Objective The aim of this study was to determine the prevalence, severity, and predictors of nutritional IDA in school age children in Southwest Ethiopia. Methodology A community based cross-sectional study was conducted in Jimma Town, Southwest Ethiopia from April to July 2013. A total of 616 school children aged 6 to 12 years were included in the study using multistage sampling technique. A structured questionnaire was used to collect sociodemographic data. Five milliliter venous blood was collected from each child for hematological examinations. Anemia was defined as a hemoglobin level lower than 11.5 g/dl and 12 g/dl for age group of 5–11 years and 12–15 years, respectively. Iron deficiency anemia was defined when serum iron and ferritin levels are below 10 µmol/l and 15 µg/dl, respectively. Moreover, fresh stool specimen was collected for diagnosis of intestinal parasitic infection. Stained thick and thin blood films were examined for detection of Plasmodium infection and study of red blood cell morphology. Dietary patterns of the study subjects were assessed using food frequency questionnaire and anthropometric measurements were done. Data were analyzed using SPSS V-20.0 for windows. Result Overall, prevalence of anemia was 43.7%, and that of IDA was 37.4%. Not-consuming protein source foods [AOR = 2.30, 95%CI(1.04,5.14)], not-consuming dairy products [AOR = 1.83, 95%CI(1.14,5.14)], not-consuming discretionary calories [AOR = 2.77, 95%CI(1.42,5.40)], low family income [AOR = 6.14, 95%CI(2.90,12.9)] and intestinal parasitic infections [AOR = 1.45, 95%CI(1.23, 5. 27)] were predictors of IDA. Conclusion Iron deficiency anemia is a moderate public health problem in the study site. Dietary deficiencies and

  5. Burden of micronutrient deficiencies by socio-economic strata in children aged 6 months to 5 years in the Philippines

    PubMed Central

    2013-01-01

    Background Micronutrient deficiencies (MNDs) are a chronic lack of vitamins and minerals and constitute a huge public health problem. MNDs have severe health consequences and are particularly harmful during early childhood due to their impact on the physical and cognitive development. We estimate the costs of illness due to iron deficiency (IDA), vitamin A deficiency (VAD) and zinc deficiency (ZnD) in 2 age groups (6–23 and 24–59 months) of Filipino children by socio-economic strata in 2008. Methods We build a health economic model simulating the consequences of MNDs in childhood over the entire lifetime. The model is based on a health survey and a nutrition survey carried out in 2008. The sample populations are first structured into 10 socio-economic strata (SES) and 2 age groups. Health consequences of MNDs are modelled based on information extracted from literature. Direct medical costs, production losses and intangible costs are computed and long term costs are discounted to present value. Results Total lifetime costs of IDA, VAD and ZnD amounted to direct medical costs of 30 million dollars, production losses of 618 million dollars and intangible costs of 122,138 disability adjusted life years (DALYs). These costs can be interpreted as the lifetime costs of a 1-year cohort affected by MNDs between the age of 6–59 months. Direct medical costs are dominated by costs due to ZnD (89% of total), production losses by losses in future lifetime (90% of total) and intangible costs by premature death (47% of total DALY losses) and losses in future lifetime (43%). Costs of MNDs differ considerably between SES as costs in the poorest third of the households are 5 times higher than in the wealthiest third. Conclusions MNDs lead to substantial costs in 6-59-month-old children in the Philippines. Costs are highly concentrated in the lower SES and in children 6–23 months old. These results may have important implications for the design, evaluation and choice of the

  6. G6PD deficiency and absence of α-thalassemia increase the risk for cerebral vasculopathy in children with sickle cell anemia.

    PubMed

    Joly, Philippe; Garnier, Nathalie; Kebaili, Kamila; Renoux, Céline; Dony, Arthur; Cheikh, Nathalie; Renard, Cécile; Ceraulo, Antony; Cuzzubbo, Daniela; Pondarré, Corinne; Martin, Cyril; Pialoux, Vincent; Francina, Alain; Bertrand, Yves; Connes, Philippe

    2016-04-01

    The aim of this study was to test the association between hematological/genetic factors and cerebral vasculopathy in children with sickle cell anemia (SCA). A group with cerebral vasculopathy (VASC) was composed of children who had stroke (n = 6), silent infarct (n = 11), or an abnormal transcranial Doppler (n = 5). Eighty-four patients had neither positive history of stroke or silent infarct, nor abnormal transcranial Doppler (NORM group). An intermediate group (COND; n = 15) was composed of SCA children with a conditional transcranial Doppler. Biological analyses were performed on samples obtained at steady state and before the beginning of any chronic treatment. The comparisons of the three groups demonstrated a protective effect of α-thalassemia against cerebral vasculopathy through its effects on hemoglobin and reticulocyte levels. Moreover, we observed higher frequency of G6PD deficiency in the VASC group compared with the other groups. Our study confirms the key role of α-thalassemia and G6PD status in the pathophysiology of cerebral vasculopathy in SCA children. PMID:26072930

  7. Dental Considerations in Children with Glucose-6-phosphate Dehydrogenase Deficiency (Favism): A Review of the Literature and Case Report.

    PubMed

    Hernández-Pérez, Daniela; Butrón-Téllez Girón, Claudia; Ruiz-Rodríguez, Socorro; Garrocho-Rangel, Arturo; Pozos-Guillén, Amaury

    2015-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an uncommon inherited enzyme deficiency characterized by hemolytic anemia, caused by the inability of erythrocytes to detoxify oxidizing agents such as drugs, infectious diseases, or fava bean ingestion. In this later case, the disorder is known as favism. The aim of the present report was to present a review of the literature in this disease, to describe a case report concerning an affected 9-year-old male, and to review the main implications and precautions in pediatric dental management. PMID:26435857

  8. Dental Considerations in Children with Glucose-6-phosphate Dehydrogenase Deficiency (Favism): A Review of the Literature and Case Report

    PubMed Central

    Hernández-Pérez, Daniela; Butrón-Téllez Girón, Claudia; Ruiz-Rodríguez, Socorro; Garrocho-Rangel, Arturo; Pozos-Guillén, Amaury

    2015-01-01

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an uncommon inherited enzyme deficiency characterized by hemolytic anemia, caused by the inability of erythrocytes to detoxify oxidizing agents such as drugs, infectious diseases, or fava bean ingestion. In this later case, the disorder is known as favism. The aim of the present report was to present a review of the literature in this disease, to describe a case report concerning an affected 9-year-old male, and to review the main implications and precautions in pediatric dental management. PMID:26435857

  9. Efficacy of a low-dose ferric-EDTA in reducing iron deficiency anaemia among underfive children living in malaria-holoendemic district of Mvomero, Tanzania.

    PubMed

    Mosha, Theobald C E; Laswai, Henry H; Assey, John; Bennink, Maurice R

    2014-04-01

    Iron deficiency anaemia is a public health problem in Tanzania especially among children under the age of five years. In malaria holoendemic areas, control of anaemia by supplementation with iron has been reported to increase serious adverse events. The World Health Organization recommends that, programs to control anaemia in such areas should go concurrently with malaria control programmes. The objectives of the study were to: (i) to determine if a supplement providing 2.5 mg of iron as ferric EDTA and 2.5 mg of iron as ferrous lactate (low dose) is as effective in correcting anaemia as a supplement providing the standard 10 mg of iron as ferrous lactate (high dose); and ii) determine if iron supplementation increased the risk of malaria. This study was carried out in Mvomero District of east-central Tanzania. Two groups (69 and 70 subjects per treatment) of moderately anaemic children (7.0-9.1 g of Hb/dl), received one of the two micronutrient supplements differing only in iron content for a period of 60 days. Results showed that, the average haemoglobin (Hb) concentration improved from 8.30 ± 0.60 g/dl to 11.08 ± 1.25 g/dl. The average weight-for-age for all children increased from 16.0 to 20.6% while their weight-for-height increased from 4.0 to 13.3%. The incidence of asymptomatic and symptomatic malaria ranged from 10.0 to 10.4% at all time points with no apparent increase in malaria severity due to iron supplementation. Overall, there was a significant reduction in anaemia during the 60 day supplementation period. This study demonstrated that, micronutrient supplements containing low-dose ferric-EDTA is just as effective as the high dose iron in reducing anaemia and can be safely utilized in malaria holoendemic areas to control iron deficiency anaemia. It is recommended that, a large study should be conducted to affirm the effectiveness of the low-dose ferric-EDTA in controlling iron deficiency anaemia among underfive children. PMID:26875300

  10. Effects of barefoot habituation in winter on thermal and hormonal responses in young children--a preliminary study.

    PubMed

    Park, Shin-Jung; Kikufuji, Nori; Hyun, Ki-Ja; Tokura, Hiromi

    2004-12-01

    This study investigated how socks-wearing habit or habitual barefoot in the cold winter affected skin temperatures of distal lower extremities, the urinary excretion of adrenaline, noradrenaline and cortsisol in young children. In Experiment I for preschool children, the measurements of foot and leg skin temperatures were conducted for 30 min in the classroom controlled at 23+/-2 degres C and 50+/-5%RH, and the excretion of urinary catecholamines and cortisol during nocturnal sleep were analyzed. In Experiment II for elementary school children, nocturnal secretion of urinary catecholamines and cortisol was analyzed. While leg skin temperature tended to be lower in barefoot group than in socks group during Experiment I, foot skin temperature was not significantly different between the two groups. Fall of leg skin temperature during 30 min measurement tended to be smaller in barefoot group than in socks group. Urine volume and urinary excretion of cortisol tended to be greater in barefoot group than in socks group for preschool children. Urinary noradrenaline was significantly greater and cortisol tended to be greater in barefoot group than in socks group for elementary school children. Considering that most of the findings shown above were in the proximity of the established level of statistical significance, it was provisionally concluded that young children with barefoot habituation might show more effective cold adaptation of metabolic type than those without the habituation do, by keeping their skin temperatures higher even in the cold and enhancing the metabolic rate. PMID:17402509

  11. Carbohydrate digestion in congenital sucrase isomaltase deficient and recurrent abdominal pain children assesed by 13C- starch breath test

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Starches contribute about half of the food energy needs to the weaned child's diet. Malabsorption of sucrose is associated with abdominal pain, bloating and diarrhea. A genetic disorder called Congenital Sucrase-Isomaltase Deficiency (CSID) is suspected when these symptoms follow sugar ingestion and...

  12. Pituitary Morphology and Function in 43 Children with Central Diabetes Insipidus

    PubMed Central

    Liu, Wendong; Wang, Limin; Liu, Minghua; Li, Guimei

    2016-01-01

    Objective. In pediatric central diabetes insipidus (CDI), etiology diagnosis and pituitary function monitoring are usually delayed. This study aimed to illustrate the importance of regular follow-up and pituitary function monitoring in pediatric CDI. Methods. The clinical, hormonal, and neuroradiological characteristics of children with CDI at diagnosis and during 1.5–2-year follow-up were collected and analyzed. Results. The study included 43 CDI patients. The mean interval between initial manifestation and diagnosis was 22.29 ± 3.67 months (range: 2–108 months). The most common complaint was polyuria/polydipsia. Causes included Langerhans cell histiocytosis, germinoma, and craniopharyngioma in 2, 5, and 4 patients; the remaining were idiopathic. No significant changes were found during the 1.5–2 years after CDI diagnosis. Twenty-three of the 43 cases (53.5%) had ≥1 anterior pituitary hormone deficiency. Isolated growth hormone deficiency was the most frequent abnormality (37.5%) and was not associated with pituitary stalk diameter. Multiple pituitary hormone deficiencies were found in 8 cases with pituitary stalk diameter > 4.5 mm. Conclusion. Diagnosis of CDI is usually delayed. CDI with a pituitary stalk diameter > 4.5 mm carries a higher risk of multiple pituitary hormone deficiencies. Long-term MRI and pituitary function follow-ups are necessary for children with idiopathic CDI. PMID:27118970

  13. Gastrointestinal hormones regulating appetite.

    PubMed

    Chaudhri, Owais; Small, Caroline; Bloom, Steve

    2006-07-29

    The role of gastrointestinal hormones in the regulation of appetite is reviewed. The gastrointestinal tract is the largest endocrine organ in the body. Gut hormones function to optimize the process of digestion and absorption of nutrients by the gut. In this capacity, their local effects on gastrointestinal motility and secretion have been well characterized. By altering the rate at which nutrients are delivered to compartments of the alimentary canal, the control of food intake arguably constitutes another point at which intervention may promote efficient digestion and nutrient uptake. In recent decades, gut hormones have come to occupy a central place in the complex neuroendocrine interactions that underlie the regulation of energy balance. Many gut peptides have been shown to influence energy intake. The most well studied in this regard are cholecystokinin (CCK), pancreatic polypeptide, peptide YY, glucagon-like peptide-1 (GLP-1), oxyntomodulin and ghrelin. With the exception of ghrelin, these hormones act to increase satiety and decrease food intake. The mechanisms by which gut hormones modify feeding are the subject of ongoing investigation. Local effects such as the inhibition of gastric emptying might contribute to the decrease in energy intake. Activation of mechanoreceptors as a result of gastric distension may inhibit further food intake via neural reflex arcs. Circulating gut hormones have also been shown to act directly on neurons in hypothalamic and brainstem centres of appetite control. The median eminence and area postrema are characterized by a deficiency of the blood-brain barrier. Some investigators argue that this renders neighbouring structures, such as the arcuate nucleus of the hypothalamus and the nucleus of the tractus solitarius in the brainstem, susceptible to influence by circulating factors. Extensive reciprocal connections exist between these areas and the hypothalamic paraventricular nucleus and other energy-regulating centres of the

  14. Low immune cell ARA and high plasma 12-HETE and 17-HDHA in iron-deficient South African school children with allergy.

    PubMed

    Malan, L; Baumgartner, J; Calder, P C; Smuts, C M

    2016-07-01

    Allergy has been associated with altered fatty acid and inflammatory status. In this cross-sectional study of 321 rural iron deficient (ID) South African children (aged 6-11 years), a subsample (n=111) of children with parent-reported allergy data were divided into an allergic (n=30) and non-allergic (n=81) group and compared. PBMC arachidonic acid (ARA; P=0.010) and the PBMC ARA to dihomo-gamma-linolenic acid (DGLA) ratio (P=0.035) were lower in the allergic children. Plasma 12-hydroxyeicosatetraenoic acid and 17-hydroxydocosahexaenoic acid (17-HDHA) were higher (P=0.040 and 0.020, respectively) in the allergic group. Thus, a fatty acid composition and lipid mediator levels indicative of increased release of ARA from PBMC membranes, increased inflammation as well as the resolving thereof, were associated with parent-reported allergy symptoms. This study used baseline data of an intervention study which was registered at clinicaltrials.gov as NCT01092377. PMID:27255641

  15. Type-2 Iodothyronine 5′Deiodinase (D2) in Skeletal Muscle of C57Bl/6 Mice. II. Evidence for a Role of D2 in the Hypermetabolism of Thyroid Hormone Receptor α-Deficient Mice

    PubMed Central

    Ramadan, W.; Marsili, A.; Larsen, P. R.; Zavacki, A. M.

    2011-01-01

    Mice with ablation of the Thra gene have cold intolerance due to an as yet undefined defect in the activation of brown adipose tissue (BAT) uncoupling protein (UCP). They develop an alternate form of facultative thermogenesis, activated at temperatures below thermoneutrality and associated with hypermetabolism and reduced sensitivity to diet-induced obesity. A consistent finding in Thra-0/0 mice is increased type-2 iodothyronine deiodinase (D2) mRNA in skeletal muscle and other tissues. With an improved assay to measure D2 activity, we show here that this enzyme activity is increased in proportion to the mRNA and as a function of the ambient cold. The activation is mediated by the sympathetic nervous system in Thra-0/0, as it is in wild-type genotype mice, but the sympathetic nervous system effect is greater in Thra-0/0 mice. Using D2-ablated mice (Dio2−/−), we reported elsewhere and show here that, in spite of sharing a severe deficiency in BAT thermogenesis with Thra-0/0 and UCP1-knockout mice, they do not have an increase in oxygen consumption, and they gain more weight than wild-type controls when fed a high-fat diet. UCP3 mRNA is highly responsive to thyroid hormone, and it is increased in Thra-0/0 mice, particularly when fed high-fat diets. We show here that muscle UCP3 mRNA in hypothyroid Thra-0/0 mice is responsive to small dose-short regimens of T4, indicating a role for locally, D2-generated T3. Lastly, we show that bile acids stimulate not only BAT but also muscle D2 activity, and this is associated with stimulation of muscle UCP3 mRNA expression provided T4 is present. These observations strongly support the concept that enhanced D2 activity in Thra-0/0 plays a critical role in their alternate form of facultative thermogenesis, stimulating increased fat oxidation by increasing local T3 generation in skeletal muscle. PMID:21652727

  16. Determinants of Growth Hormone Resistance in Malnutrition

    PubMed Central

    Fazeli, Pouneh K.; Klibanski, Anne

    2014-01-01

    States of under-nutrition are characterized by growth hormone resistance. Decreased total energy intake, as well as isolated protein-calorie malnutrition and isolated nutrient deficiencies result in elevated growth hormone levels and low levels of IGF-I. We review various states of malnutrition and a disease state characterized by chronic under-nutrition -- anorexia nervosa -- and discuss possible mechanisms contributing to the state of growth hormone resistance, including FGF-21 and SIRT1. We conclude by examining the hypothesis that growth hormone resistance is an adaptive response to states of under-nutrition, in order to maintain euglycemia and preserve energy. PMID:24363451

  17. Children with Developmental Coordination Disorder are deficient in a visuo-manual tracking task requiring predictive control.

    PubMed

    Ferguson, G D; Duysens, J; Smits-Engelsman, B C M

    2015-02-12

    The aim of this study was to examine how feedback, or its absence, affects children with Developmental Coordination Disorder (DCD) during a visuo-manual tracking task. This cross-sectional study included 40 children with DCD and 40 typically developing (TD) children between 6 and 10 years old. Participants were required to track a target moving along a circular path presented on a monitor by moving an electronic pen on a digitizing tablet. The task was performed under two visibility conditions (target visible throughout the trajectory and target intermittently occluded) and at two different target velocities (30° and 60° per second). Variables reflecting tracking success and tracking behavior within the target were compared between groups. Results showed that children with DCD were less proficient in tracking a moving target than TD children. Their performance deteriorated even more when the target was occluded and when the target speed increased. The mean tracking speed of the DCD group exceeded the speed at which the target rotated which was attributed to accelerations and decelerations made during tracking. This suggests that children with DCD have significant difficulties in visuo-manual tracking especially when visual feedback is reduced. It appears that their impaired ability to predict together with impairments in fine-tuning arm movements may be responsible for poor performance in the intermittently occluded visuo-manual tracking task. PMID:25457130

  18. Immunological characterization and transcription profiling of peripheral blood (PB) monocytes in children with autism spectrum disorders (ASD) and specific polysaccharide antibody deficiency (SPAD): case study

    PubMed Central

    2012-01-01

    Introduction There exists a small subset of children with autism spectrum disorders (ASD) characterized by fluctuating behavioral symptoms and cognitive skills following immune insults. Some of these children also exhibit specific polysaccharide antibody deficiency (SPAD), resulting in frequent infection caused by encapsulated organisms, and they often require supplemental intravenous immunoglobulin (IVIG) (ASD/SPAD). This study assessed whether these ASD/SPAD children have distinct immunological findings in comparison with ASD/non-SPAD or non-ASD/SPAD children. Case description We describe 8 ASD/SPAD children with worsening behavioral symptoms/cognitive skills that are triggered by immune insults. These ASD/SPAD children exhibited delayed type food allergy (5/8), treatment-resistant seizure disorders (4/8), and chronic gastrointestinal (GI) symptoms (5/8) at high frequencies. Control subjects included ASD children without SPAD (N = 39), normal controls (N = 37), and non-ASD children with SPAD (N = 12). Discussion and Evaluation We assessed their innate and adaptive immune responses, by measuring the production of pro-inflammatory and counter-regulatory cytokines by peripheral blood mononuclear cells (PBMCs) in responses to agonists of toll like receptors (TLR), stimuli of innate immunity, and T cell stimulants. Transcription profiling of PB monocytes was also assessed. ASD/SPAD PBMCs produced less proinflammatory cytokines with agonists of TLR7/8 (IL-6, IL-23), TLR2/6 (IL-6), TLR4 (IL-12p40), and without stimuli (IL-1ß, IL-6, and TNF-α) than normal controls. In addition, cytokine production of ASD/SPAD PBMCs in response to T cell mitogens (IFN-γ, IL-17, and IL-12p40) and candida antigen (Ag) (IL-10, IL-12p40) were less than normal controls. ASD/non-SPAD PBMDs revealed similar results as normal controls, while non-ASD/SPAD PBMCs revealed lower production of IL-6, IL-10 and IL-23 with a TLR4 agonist. Only common features observed between ASD/SPAD and non

  19. Growth Hormone

    MedlinePlus

    ... the dose of glucose. Growth hormone stimulates the production of insulin-like growth factor-1 (IGF-1) . ... regular intervals for years afterward to monitor GH production and to detect tumor recurrence. Other blood tests ...

  20. Hormone Therapy

    MedlinePlus

    ... based lubricants include petroleum jelly, baby oil, or mineral oil. Oil-based types should not be used ... caused by low levels of these hormones. Hysterectomy: Removal of the uterus. Menopause: The time in a ...

  1. A comprehensive assessment of urinary iodine concentration and thyroid hormones in New Zealand schoolchildren: a cross-sectional study

    PubMed Central

    2012-01-01

    Background Insufficient iodine in children’s diets is of concern because thyroid hormones are needed for normal growth and development, particularly of the brain. This study aimed to carry out a comprehensive assessment of the iodine status of New Zealand schoolchildren using a range of biochemical indices suitable for populations (i.e. urinary iodine concentration) and individuals (i.e. thyroid hormones). Methods The New Zealand National Children’s Nutrition Survey was a cross­‒sectional survey of a representative sample of schoolchildren aged 5­‒14 years. Children were asked to provide a casual urine sample for the determination of urinary iodine concentration (UIC) and a blood sample for the determination of thyroglobulin (Tg), Thyroid Stimulating Hormone (TSH), free thyroxine (fT4) and free triiodothyronine (fT3). Results The median UIC was 68 μg/L (n = 1153), which falls between 50­‒99 μg/L indicative of mild iodine deficiency. Furthermore, 29% of children had an UIC <50 μg/L and 82% had an UIC <100 μg/L. The median Tg concentration was 12.9 μg/L, which also falls between 10.0­‒19.9 μg/L indicative of mild iodine deficiency. The Tg concentration of children with an UIC <100 μg/L was 13.9 μg/L, higher than the 10.3 μg/L in children with an UIC >100 μg/L (P = 0.001). The mean TSH (1.7 mU/L), fT4 (14.9 pmol/L), and fT3 (6.0 pmol/L) concentrations for these mildly iodine deficient New Zealand children fell within normal reference ranges. Conclusions The UIC and Tg concentration indicate that New Zealand schoolchildren were mildly iodine deficient according to WHO/UNICEF/ICCIDD, and both are suitable indices to assess iodine status in populations or groups. The normal concentrations of TSH, fT4 and fT3 of these children suggest that these thyroid hormones are not useful indices of mild iodine deficiency. PMID:22569210

  2. Inherited CARD9 deficiency in otherwise healthy children and adults with meningo-encephalitis and/or colitis caused by Candida

    PubMed Central

    Lanternier, Fanny; Mahdaviani, Seyed Alireza; Barbati, Elisa; Chaussade, Hélène; Koumar, Yatrika; Levy, Romain; Denis, Blandine; Brunel, Anne-Sophie; Martin, Sophie; Loop, Michèle; Peeters, Julie; de Selys, Ariel; Vanclaire, Jean; Vermylen, Christiane; Nassogne, Marie-Cécile; Chatzis, Olga; Liu, Luyan; Migaud, Mélanie; Pedergnana, Vincent; Desoubeaux, Guillaume; Jouvion, Gregory; Chretien, Fabrice; Darazam, Ilad Alavi; Schäffer, Alejandro A.; Netea, Mihai G.; De Bruycker, Jean-Jacques; Bernard, Louis; Reynes, Jacques; Amazrine, Noureddine; Abel, Laurent; Van der Linden, Dimitri; Harrison, Tom; Picard, Capucine; Lortholary, Olivier; Mansouri, Davood; Casanova, Jean-Laurent; Puel, Anne

    2016-01-01

    Invasive infections of the central nervous system or digestive tract caused by commensal fungi of the genus Candida are rare and life-threatening. The known risk factors include acquired and inherited immunodeficiencies, with patients often displaying a history of multiple infections. Cases of meningo-encephalitis and/or colitis caused by Candida remain unexplained. We studied five previously healthy children and adults with unexplained invasive disease of the central nervous system, or the digestive tract, or both, caused by Candida spp. The patients were aged 39, 7, 17 37, and 26 years at the time of infection and were unrelated but each born to consanguineous parents of Turkish (two patients), Iranian, Moroccan or Pakistani origin. Meningo-encephalitis was isolated in three patients, associated with colitis in a fourth patient, and the fifth patient suffered from isolated colitis. Inherited CARD9 deficiency was recently reported in otherwise healthy patients with other forms of severe disease caused by Candida, Trichophyton, Phialophora, and Exophiala, including meningo-encephalitis, but not colitis, caused by Candida and Exophiala. We therefore sequenced CARD9 in the five patients. All were found to be homozygous for rare and deleterious mutant CARD9 alleles: R70W and Q289* for the three patients with isolated C. albicans meningo-encephalitis, R35Q for the patient with meningo-encephalitis and colitis caused by C. glabrata, and Q295* for the patient with C. albicans colitis. Regardless of their levels of mutant CARD9 protein, the patients’ monocyte-derived dendritic cells responded poorly to CARD9-dependent fungal agonists (curdlan, heat-killed C. albicans, Saccharomyces cerevisiae and Exophiala dermatitidis). Invasive infections of the CNS or digestive tract caused by Candida in previously healthy children and even adults may be caused by inherited CARD9 deficiency. PMID:25702837

  3. Multicenter study on adult growth hormone level in postoperative pituitary tumor patients.

    PubMed

    Cheng, Jing-min; Gu, Jian-wen; Kuang, Yong-qin; Ma, Yuan; Xia, Xun; Yang, Tao; Lu, Min; He, Wei-qi; Sun, Zhi-yong; Zhang, Yan-chao

    2015-03-01

    The objective of this study is to observe the adult growth hormone level in postoperative pituitary tumor patients of multi-centers, and explore the change of hypophyseal hormones in postoperative pituitary tumor patients. Sixty patients with pituitary tumor admitted during March, 2011-March, 2012 were selected. Postoperative hypophyseal hormone deficiency and the change of preoperative, intraoperative, and postoperative growth hormone levels were recorded. Growth hormone hypofunction was the most common hormonal hypofunction, which took up to 85.0 %. Adrenocortical hormone hypofunction was next to it and accounted for 58.33 %. GH + ACTH + TSH + Gn deficiency was the most common in postoperative hormone deficiency, which took up to 40.00 %, and GH + ACTH + TSH + Gn + AVP and GH deficiencies were next to it and accounted for 23.33 and 16.67 %, respectively. The hormone levels in patients after total pituitary tumor resection were significantly lower than those after partial pituitary tumor resection, and the difference was statistically significant; growth hormone and serum prolactin levels after surgery in two groups were decreased, and the difference was statistically significant. The incidence rate of growth hormone deficiency in postoperative pituitary tumor patients is high, which is usually complicated with deficiency of various hypophyseal hormones. In clinical, we should pay attention to the levels of the hypopnyseal hormones, and take timely measures to avoid postoperative complications. PMID:25403160

  4. Iodine Deficiency and Hypothyroidism From Voluntary Diet Restrictions in the US: Case Reports.

    PubMed

    Booms, Stephanie; Hill, Elizabeth; Kulhanek, Leah; Vredeveld, Jennifer; Gregg, Brigid

    2016-06-01

    Iodine deficiency is rare in the United States today, and this is largely due to the effectiveness of iodization in the general food supply. Recent trends among specific populations of children in the United States include adopting food restrictions, such casein-free and gluten-free diets. Although the effect of these types of diets on overall nutrition status and certain micronutrients has been studied in children with autism spectrum disorder, the effect of these limitations on iodine levels in children has not been assessed. We present here 2 cases of iodine deficiency resulting from severe food restriction and associated primary hypothyroidism. In 1 case a classic presentation with a goiter was seen. These children were able to discontinue thyroid hormone treatment once iodine levels were normalized. There were no adverse events or unanticipated outcomes. The occurrence of these cases of iodine deficiency in the United States points to the need for thyroid function testing in children with severe food restrictions, especially those who have limited exposure to dairy, baked goods, and table salt. PMID:27244854

  5. Physiologic growth hormone replacement improves fasting lipid kinetics in patients with HIV lipodystrophy syndrome

    Technology Transfer Automated Retrieval System (TEKTRAN)

    HIV lipodystrophy syndrome (HLS) is characterized by accelerated lipolysis, inadequate fat oxidation, increased hepatic reesterification, and a high frequency of growth hormone deficiency (GHD). The effect of growth hormone (GH) replacement on these lipid kinetic abnormalities is unknown. We aimed ...

  6. Neurodevelopmental Consequences of Low-Level Thyroid Hormone Disruption Induced by Environmental Contaminants

    EPA Science Inventory

    Inadequate levels of thyroid hormone during critical developmental periods lead to stunted growth, mental retardation, and neurological 'cretinism'. Animal models of developmental thyroid hormone deficiency mirror well the impact of severe insults to the thyroid system. However, ...

  7. The impact of maternal iron deficiency and iron deficiency anemia on child’s health

    PubMed Central

    Abu-Ouf, Noran M.; Jan, Mohammed M.

    2015-01-01

    Iron deficiency anemia is extremely common, particularly in the developing world, reaching a state of global epidemic. Iron deficiency during pregnancy is one of the leading causes of anemia in infants and young children. Many women go through the entire pregnancy without attaining the minimum required intake of iron. This review aims to determine the impact of maternal iron deficiency and iron deficiency anemia on infants and young children. Extensive literature review revealed that iron deficiency is a global nutritional problem affecting up to 52% of pregnant women. Many of these women are symptomatic. Lack of proper weight gain during pregnancy is an important predictor of iron deficiency. PMID:25719576

  8. The new emergence of iodine deficiency in the UK: consequences for child neurodevelopment.

    PubMed

    Rayman, Margaret P; Bath, Sarah C

    2015-11-01

    Adequate iodine intake is important during pregnancy as it is a component of the thyroid hormones that are crucial for fetal brain and neurological development. While randomized controlled trials in severe iodine deficiency have shown that iodine deficiency in pregnancy causes impaired offspring cognition, less is known of the effects in regions of mild/mild-to-moderate deficiency. The United Kingdom is now classified as mildly iodine deficient by the World Health Organization, based on a 2011 national study of 14-15-year-old schoolgirls. As pregnancy is the most critical time for brain development, we evaluated iodine status in pregnant women in Surrey (n = 100) and Oxford (n = 230). The median urinary iodine concentration was 85.3 μg/L in Surrey women, considerably lower than the WHO/United Nations Children's Fund/International Council for the Control of Iodine Deficiency Disorders cut-off of 150 μg/L. Oxford women had similarly low status. We investigated whether that level of iodine deficiency was associated with adverse child cognitive effects using stored samples and data from the Avon Longitudinal Study of Parents and Children cohort. In adjusted analyses, we found a significant association between low maternal iodine status in early pregnancy (urinary iodine-to-creatinine ratio <150 μg/g) such that children had an approximately 60% greater risk of being in the bottom quartile of scores for verbal intelligence quotient, reading accuracy and comprehension. UK women who might become pregnant should ensure they have adequate iodine status to avoid compromising their children's brain development. PMID:26240435

  9. Sex steroids and growth hormone interactions.

    PubMed

    Fernández-Pérez, Leandro; de Mirecki-Garrido, Mercedes; Guerra, Borja; Díaz, Mario; Díaz-Chico, Juan Carlos

    2016-04-01

    GH and sex hormones are critical regulators of body growth and composition, somatic development, intermediate metabolism, and sexual dimorphism. Deficiencies in GH- or sex hormone-dependent signaling and the influence of sex hormones on GH biology may have a dramatic impact on liver physiology during somatic development and in adulthood. Effects of sex hormones on the liver may be direct, through hepatic receptors, or indirect by modulating endocrine, metabolic, and gender-differentiated functions of GH. Sex hormones can modulate GH actions by acting centrally, regulating pituitary GH secretion, and peripherally, by modulating GH signaling pathways. The endocrine and/or metabolic consequences of long-term exposure to sex hormone-related compounds and their influence on the GH-liver axis are largely unknown. A better understanding of these interactions in physiological and pathological states will contribute to preserve health and to improve clinical management of patients with growth, developmental, and metabolic disorders. PMID:26775014

  10. Modelling protection behaviour towards micronutrient deficiencies: Case of iodine biofortified vegetable legumes as health intervention for school-going children

    PubMed Central

    De Steur, Hans; Gellynck, Xavier; Makokha, Anselimo

    2016-01-01

    BACKGROUND/OBJECTIVES Despite successes recorded in combating iodine deficiency, more than 2 billion people are still at risk of iodine deficiency disorders. Rural landlocked and mountainous areas of developing countries are the hardest hit, hence the need to explore and advance novel strategies such as biofortification. SUBJECTS/METHODS We evaluated adoption, purchase, and consumption of iodine biofortified vegetable legumes (IBVL) using the theory of protection motivations (PMT) integrated with an economic valuation technique. A total of 1,200 participants from three land-locked locations in East Africa were recruited via multi-stage cluster sampling, and data were collected using two, slightly distinct, questionnaires incorporating PMT constructs. The survey also elicited preferences for iodine biofortified foods when offered at a premium or discount. Determinants of protection motivations and preferences for iodine biofortified foods were assessed using path analysis modelling and two-limit Tobit regression, respectively. RESULTS Knowledge of iodine, iodine-health link, salt iodization, and biofortification was very low, albeit lower at the household level. Iodine and biofortification were not recognized as nutrient and novel approaches, respectively. On the other hand, severity, fear, occupation, knowledge, iodine status, household composition, and self-efficacy predicted the intention to consume biofortified foods at the household level; only vulnerability, self-efficacy, and location were the most crucial elements at the school level. In addition, results demonstrated a positive willingness-to-pay a premium or acceptance of a lesser discount for biofortification. Furthermore, preference towards iodine biofortified foods was a function of protection motivations, severity, vulnerability, fear, response efficacy, response cost, knowledge, iodine status, gender, age. and household head. CONCLUSIONS Results lend support for prevention of iodine deficiency in

  11. Clinical implications of thyroid hormones effects on nervous system development.

    PubMed

    Carreón-Rodríguez, Alfonso; Pérez-Martínez, Leonor

    2012-03-01

    Thyroid hormones have an important role throughout prenatal and postnatal nervous system development. They are involved in several processes such as neurogenesis, gliogenesis, myelination, synaptogenesis, etc., as shown in many cases of deficiency like congenital hypothyroidism or hypothyroxinemia. Those pathologies if untreated could lead to severe damages in cognitive, motor, neudoendocrine functions among other effects. Some could be reversed after adequate supplementation of thyroid hormones at birth, however there are other cellular processes highly sensitive to low levels of thyroid hormones and lasting a limited period of time during which if thyroid hormone action is lacking or deficient, the functional and structural damages would produce permanent defects. PMID:22523832

  12. A longitudinal study of growth and growth hormone secretion in children during treatment for acute lymphoblastic leukemia

    SciTech Connect

    Marky, I.; Mellander, L.; Lannering, B.; Albertsson-Wikland, K. )

    1991-01-01

    Diminished growth rate during treatment for acute lymphoblastic leukemia (ALL) is of the multifactorial etiology. Effects on GH secretion have been shown after discontinuation of treatment including prophylactic CNS irradiation. Seventeen children treated for ALL with three different CNS preventive schedules were followed longitudinally with repeated estimations of the spontaneous GH secretion during a 24-month period. No difference was found in GH secretion during this time between patients who had received no radiotherapy and those who had received 18 or 24 Gy as CNS prophylaxis. During dexamethasone treatment the GH secretion was completely suppressed, which can be a mediator for the diminished growth rate during the first 2 years of ALL treatment. We conclude that there is no clinical reason to perform GH analysis within the first 24 months of treatment for ALL.

  13. Prevalence of iodine deficiency disorders among school children in Saudi Arabia: results of a national iodine nutrition study.

    PubMed

    Al-Dakheel, M H; Haridi, H K; Al-Bashir, B M; Al-Shingiti, A; Al-Shehri, S; Gassem, M A; Hussein, I

    2016-05-01

    This study aimed at establishing updated data on iodine nutrition among schoolchildren in Saudi Arabia. A cross-sectional cluster survey among schoolchildren aged 8-10 years was conducted during February-April 2012. Children were clinically examined for goitre, urine and household salt samples were collected to estimate urinary iodine concenteration (UIC) and iodine content in salt. The overall goitre prevalence at the national level among 4 016 children was 4.2%. The prevalence was < 5% in all regions of the country except southern region with a prevalence of 12.7%. The median UIC of 2224 samples was 133 μg/L, with 74.3% of the surveyed children with UIC ≥ 100 μg/L. Analysis of salt samples (n = 4242) revealed that 69.8% of households were consuming adequately iodized salt. The findings suggest iodine sufficiency at the national level, however southern region still has a goitre prevalence of mild degree severity and the proportion of households consuming adequately iodized salt is still below recommendations. PMID:27553396

  14. Growth hormone, enhancement and the pharmaceuticalisation of short stature.

    PubMed

    Morrison, Michael

    2015-04-01

    This paper takes the biological drug human Growth Hormone (hGH) as a case study to investigate processes of pharmaceuticalisation and medicalisation in configuring childhood short stature as a site for pharmaceutical intervention. Human growth hormone is considered to have legitimate applications in treating childhood growth hormone deficiency and short stature associated with other recognised conditions. It is also regarded by bioethicists and others as a form of human biomedical enhancement when applied to children with idiopathic or 'normal' short stature. The purpose of this study is not to evaluate whether treatment of idiopathic short stature is enhancement or not, but to evaluate how some applications of hGH in treating short stature have come to be accepted and stabilised as legitimate 'therapies' while others remain contested as 'enhancements'. A comparative, historical approach is employed, drawing on approaches from medical sociology and Science and Technology Studies (STS) to set out a socio-technical history of hGH in the US and UK. Through this history the relative influence and interplay of drivers of pharmaceuticalisation, including industry marketing and networks of drug distribution, and processes of medicalisation will be employed to address this question and simultaneously query the value of enhancement as a sociological concept. PMID:25455477

  15. Hormone impostors

    SciTech Connect

    Colborn, T.; Dumanoski, D.; Myers, J.P.

    1997-01-01

    This article discusses the accumulating evidence that some synthetic chemicals disrupt hormones in one way or another. Some mimic estrogen and others interfere with other parts of the body`s control or endocrine system such as testosterone and thyroid metabolism. Included are PCBs, dioxins, furans, atrazine, DDT. Several short sidebars highlight areas where there are or have been particular problems.

  16. Using Soluble Transferrin Receptor and Taking Inflammation into Account When Defining Serum Ferritin Cutoffs Improved the Diagnosis of Iron Deficiency in a Group of Canadian Preschool Inuit Children from Nunavik

    PubMed Central

    Turgeon O'Brien, Huguette; Blanchet, Rosanne; Gagné, Doris; Vézina, Carole

    2016-01-01

    The prevalence of iron depletion, iron deficient erythropoiesis (IDE), and iron deficiency anemia (IDA) was assessed in preschool Inuit children using soluble transferrin receptor (sTfR) and traditional indicators of iron status while disregarding or taking inflammation into account when defining SF cutoffs. Iron depletion was defined as follows: (1) SF < 15 μg/L regardless of the C-reactive protein (CRP) level and (2) SF < 15 or <50 μg/L with CRP ≤ 5 or >5 mg/L, respectively. IDE corresponded to iron depletion combined with total iron binding capacity > 72 μmol/L and/or transferrin saturation < 16%. Iron depletion and IDE affected almost half of the children when accounting for inflammation, compared to one-third when the SF cutoff was defined regardless of CRP level (P < 0.0001). The prevalence of IDE adjusted for inflammation (45.1%) was very similar to the prevalence observed when sTfR was used as a sole marker of IDE (47.4%). The prevalence of anemia was 15%. The prevalence of IDA (IDE + hemoglobin < 110 g/L) was higher when accounting for than when disregarding inflammation (8.0% versus 6.2%, P = 0.083). Using sTfR and different SF cutoffs for children with versus without inflammation improved the diagnosis of iron depletion and IDE. Our results confirm that Inuit children are at particularly high risk for iron deficiency. PMID:27382488

  17. Using Soluble Transferrin Receptor and Taking Inflammation into Account When Defining Serum Ferritin Cutoffs Improved the Diagnosis of Iron Deficiency in a Group of Canadian Preschool Inuit Children from Nunavik.

    PubMed

    Turgeon O'Brien, Huguette; Blanchet, Rosanne; Gagné, Doris; Lauzière, Julie; Vézina, Carole

    2016-01-01

    The prevalence of iron depletion, iron deficient erythropoiesis (IDE), and iron deficiency anemia (IDA) was assessed in preschool Inuit children using soluble transferrin receptor (sTfR) and traditional indicators of iron status while disregarding or taking inflammation into account when defining SF cutoffs. Iron depletion was defined as follows: (1) SF < 15 μg/L regardless of the C-reactive protein (CRP) level and (2) SF < 15 or <50 μg/L with CRP ≤ 5 or >5 mg/L, respectively. IDE corresponded to iron depletion combined with total iron binding capacity > 72 μmol/L and/or transferrin saturation < 16%. Iron depletion and IDE affected almost half of the children when accounting for inflammation, compared to one-third when the SF cutoff was defined regardless of CRP level (P < 0.0001). The prevalence of IDE adjusted for inflammation (45.1%) was very similar to the prevalence observed when sTfR was used as a sole marker of IDE (47.4%). The prevalence of anemia was 15%. The prevalence of IDA (IDE + hemoglobin < 110 g/L) was higher when accounting for than when disregarding inflammation (8.0% versus 6.2%, P = 0.083). Using sTfR and different SF cutoffs for children with versus without inflammation improved the diagnosis of iron depletion and IDE. Our results confirm that Inuit children are at particularly high risk for iron deficiency. PMID:27382488

  18. Hormone Health Network

    MedlinePlus

    International Resource Center Online Store Pacientes y Cuidadores Hormones and Health Journey Through the Endocrine System Endocrine Disrupting Chemicals (EDCs) Endocrine Glands and Types of Hormones Brainy Hormones What Do Hormones Do? Healthy Living ...

  19. Bacterial and fungal infection in children with fulminant hepatic failure: possible role of opsonisation and complement deficiency.

    PubMed Central

    Larcher, V F; Wyke, R J; Mowat, A P; Williams, R

    1982-01-01

    Serious bacterial infection, including eight episodes of bacteraemia, developed in seven of 15 (47%) children with fulminant hepatic failure. Those with infections had a slightly higher leucocyte response than those who did not. Serum immunoglobulin concentrations were normal or raised in all patients. Opsonisation of heat-killed baker's yeast, functionally measured total haemolytic complement, C4, C5, total alternative pathway activity, factor B and D activity, and C3 concentrations were all significantly (p less than 0.005) reduced at presentation but returned to normal in those who survived. The severity of defects in yeast opsonisation, C4, and factor B activity at presentation were significantly correlated with the subsequent development of infection. In five patients bacteraemia occurred at a time when opsonisation and complement components were defective. Plasma infusions in vivo improved opsonisation in vitro and only one bacterial isolate was obtained within four days of such an infusion. Those patients who developed infection had received significantly (p less than 0.05) fewer plasma infusions than those who did not. Our findings suggest that both alternative and classical pathways of complement are defective in children with severe liver disease and may contribute to the susceptibility of such patients to infections. Plasma infusions might be useful in reducing the incidence of bacterial infection in such conditions. PMID:6757064

  20. Long-term effects of treatment on endocrine function in children with brain tumors

    SciTech Connect

    Duffner, P.K.; Cohen, M.E.; Anderson, S.W.; Voorhess, M.L.; MacGillivray, M.H.; Panahon, A.; Brecher, M.L.

    1983-11-01

    Fourteen children with brain tumors received endocrine evaluations at least one year following completion of cranial irradiation. Treatment consisted of operation (13 patients), craniospinal irradiation (6), whole brain irradiation (5), posterior fossa irradiation (3), and chemotherapy (10). Endocrine evaluation included bone age roentgenography and measurement of growth hormone (using sequential arginine and insulin stimulation), thyroxine, thyroid-stimulating hormone, plasma cortisol, testosterone, prolactin, and urinary follicle-stimulating hormone and luteinizing hormone. Ten of 12 children (83%) had abnormal responses to both tests of growth hormone stimulation. All growth hormone-deficient patients treated prior to puberty and tested at least 2 years following completion of cranial irradiation had decelerated linear growth. Results of thyroid function tests were abnormal in 4 patients: 2 patients had evidence of primary hypothyroidism, and 2 showed secondary or tertiary hypothyroidism. Two patients had inadequate cortisol responses to insulin hypoglycemia. Urinary follicle-stimulating hormone and luteinizing hormone, serum prolactin, and serum testosterone levels were appropriate for age in all patients.

  1. [Phosphate metabolism and iron deficiency].

    PubMed

    Yokoyama, Keitaro

    2016-02-01

    Autosomal dominant hypophosphatemic rickets(ADHR)is caused by gain-of-function mutations in FGF23 that prevent its proteolytic cleavage. Fibroblast growth factor 23(FGF23)is a hormone that inhibits renal phosphate reabsorption and 1,25-dihydroxyvitamin D biosynthesis. Low iron status plays a role in the pathophysiology of ADHR. Iron deficiency is an environmental trigger that stimulates FGF23 expression and hypophosphatemia in ADHR. It was reported that FGF23 elevation in patients with CKD, who are often iron deficient. In patients with nondialysis-dependent CKD, treatment with ferric citrate hydrate resulted in significant reductions in serum phosphate and FGF23. PMID:26813504

  2. Clinical Evaluation of the Needle-free Injection System VISION(®) for Growth Hormone Therapy in Children.

    PubMed

    Igarashi, Yutaka

    2006-01-01

    The aim of this study was to compare the therapeutic effects of rhGH administered either by subcutaneous needle-injection (pens) or subcutaneous needle-free jet-injection (VISION(®)). Furthermore, a survey was carried out after using VISION(®) for 12 mo. A needle-free injection group consisting of 18 subjects (11 males and 7 females, mean age 5.87 ± 2.05 yr at the start of hGH therapy) who have not used pen injectors to date, were allowed to use VISION(®) in their third to fifth years of GH therapy. In addition, a group of 8 subjects who had been using pen injectors at our clinic (6 males and 2 females, mean age 6.54 ± 2.78 at the start of GH therapy) was monitored as a control. The results indicate that there are no significant differences between the mean growth rates, growth rate SD scores or height SD scores when comparing injection devices. Furthermore, the survey of VISION(®) revealed that 70% of the subjects found it slightly or not painful at or after injection, 70% found VISION(®) very easy or easy to use, and 80% found the weight of the device appropriate. All subjects expressed a desire to continue using VISION(®) in the future. Our results suggest that there are no problems with the effectiveness of hGH treatment with VISION(®), a needle-free jet-injection device and that VISION(®) is an effective device for children who have an aversion to needle injection. PMID:24790331

  3. Iron deficiency anaemia.

    PubMed

    Lopez, Anthony; Cacoub, Patrice; Macdougall, Iain C; Peyrin-Biroulet, Laurent

    2016-02-27

    Anaemia affects roughly a third of the world's population; half the cases are due to iron deficiency. It is a major and global public health problem that affects maternal and child mortality, physical performance, and referral to health-care professionals. Children aged 0-5 years, women of childbearing age, and pregnant women are particularly at risk. Several chronic diseases are frequently associated with iron deficiency anaemia--notably chronic kidney disease, chronic heart failure, cancer, and inflammatory bowel disease. Measurement of serum ferritin, transferrin saturation, serum soluble transferrin receptors, and the serum soluble transferrin receptors-ferritin index are more accurate than classic red cell indices in the diagnosis of iron deficiency anaemia. In addition to the search for and treatment of the cause of iron deficiency, treatment strategies encompass prevention, including food fortification and iron supplementation. Oral iron is usually recommended as first-line therapy, but the most recent intravenous iron formulations, which have been available for nearly a decade, seem to replenish iron stores safely and effectively. Hepcidin has a key role in iron homoeostasis and could be a future diagnostic and therapeutic target. In this Seminar, we discuss the clinical presentation, epidemiology, pathophysiology, diagnosis, and acute management of iron deficiency anaemia, and outstanding research questions for treatment. PMID:26314490

  4. Status of long-acting-growth hormone preparations--2015.

    PubMed

    Høybye, Charlotte; Cohen, Pinchas; Hoffman, Andrew R; Ross, Richard; Biller, Beverly M K; Christiansen, Jens Sandahl

    2015-10-01

    Growth hormone (GH) treatment has been an established therapy for GH deficiency (GHD) in children and adults for more than three decades. Numerous studies have shown that GH treatment improves height, body composition, bone density, cardiovascular risk factors, physical fitness and quality of life and that the treatment has few side effects. Initially GH was given as intramuscular injections three times per week, but daily subcutaneous injections were shown to be more effective and less inconvenient and the daily administration has been used since its introduction in the 1980s. However, despite ongoing improvements in injection device design, daily subcutaneous injections remain inconvenient, painful and distressing for many patients, leading to noncompliance, reduced efficacy and increased health care costs. To address these issues a variety of long-acting formulations of GH have been developed. In this review we present the current status of long-acting GH preparations and discuss the specific issues related to their development. PMID:26187188

  5. Iron deficiency in Europe.

    PubMed

    Hercberg, S; Preziosi, P; Galan, P

    2001-04-01

    In Europe, iron deficiency is considered to be one of the main nutritional deficiency disorders affecting large fractions of the population, particularly such physiological groups as children, menstruating women and pregnant women. Some factors such as type of contraception in women, blood donation or minor pathological blood loss (haemorrhoids, gynaecological bleeding...) considerably increase the difficulty of covering iron needs. Moreover, women, especially adolescents consuming low-energy diets, vegetarians and vegans are at high risk of iron deficiency. Although there is no evidence that an absence of iron stores has any adverse consequences, it does indicate that iron nutrition is borderline, since any further reduction in body iron is associated with a decrease in the level of functional compounds such as haemoglobin. The prevalence of iron-deficient anaemia has slightly decreased in infants and menstruating women. Some positive factors may have contributed to reducing the prevalence of iron-deficiency anaemia in some groups of population: the use of iron-fortified formulas and iron-fortified cereals; the use of oral contraceptives and increased enrichment of iron in several countries; and the use of iron supplements during pregnancy in some European countries. It is possible to prevent and control iron deficiency by counseling individuals and families about sound iron nutrition during infancy and beyond, and about iron supplementation during pregnancy, by screening persons on the basis of their risk for iron deficiency, and by treating and following up persons with presumptive iron deficiency. This may help to reduce manifestations of iron deficiency and thus improve public health. Evidence linking iron status with risk of cardiovascular disease or cancer is unconvincing and does not justify changes in food fortification or medical practice, particularly because the benefits of assuring adequate iron intake during growth and development are well established

  6. Absolute Reticulocyte Count and Reticulocyte Hemoglobin Content as Predictors of Early Response to Exclusive Oral Iron in Children with Iron Deficiency Anemia.

    PubMed

    Parodi, Emilia; Giraudo, Maria Teresa; Ricceri, Fulvio; Aurucci, Maria Luigia; Mazzone, Raffaela; Ramenghi, Ugo

    2016-01-01

    We report data regarding kinetic of response to oral iron in 34 iron deficiency anemia children. Twenty-four/34 patients (70.5%) reached reference value of hemoglobin (Hb) concentration for age and sex at day + 30 from the beginning of treatment (complete early responders (CERs)), and 4/34 (12%) reached an Hb concentration at least 50% higher than the original (partial early responders (PERs)). CHr at T1 (within 7 days from the beginning of treatment) was significantly different in the different groups (22.95 in CERs versus 18.41 in other patients; p = 0.001; 22.42 in early responders versus 18.07 in NERs; p = 0.001). Relative increase of CHr from T0 to T1 resulted significantly higher in CERs than in other patients (0.21 versus 0.11, p = 0.042) and in early responders than in NERs (0.22 versus 0.004, p = 0.006). Multivariate logistic models revealed a higher probability of being a complete early responder due to relative increase of ARC from T0 to T1 [OR (95% CI) = 44.95 (1.54-1311.98)] and to CHr at T1 [OR (95% CI) =3.18 (1.24-8.17)]. Our preliminary data confirm CHr as early and accurate predictor of hematological response to oral iron. PMID:27092272

  7. Absolute Reticulocyte Count and Reticulocyte Hemoglobin Content as Predictors of Early Response to Exclusive Oral Iron in Children with Iron Deficiency Anemia

    PubMed Central

    Parodi, Emilia; Giraudo, Maria Teresa; Ricceri, Fulvio; Aurucci, Maria Luigia; Mazzone, Raffaela; Ramenghi, Ugo

    2016-01-01

    We report data regarding kinetic of response to oral iron in 34 iron deficiency anemia children. Twenty-four/34 patients (70.5%) reached reference value of hemoglobin (Hb) concentration for age and sex at day + 30 from the beginning of treatment (complete early responders (CERs)), and 4/34 (12%) reached an Hb concentration at least 50% higher than the original (partial early responders (PERs)). CHr at T1 (within 7 days from the beginning of treatment) was significantly different in the different groups (22.95 in CERs versus 18.41 in other patients; p = 0.001; 22.42 in early responders versus 18.07 in NERs; p = 0.001). Relative increase of CHr from T0 to T1 resulted significantly higher in CERs than in other patients (0.21 versus 0.11, p = 0.042) and in early responders than in NERs (0.22 versus 0.004, p = 0.006). Multivariate logistic models revealed a higher probability of being a complete early responder due to relative increase of ARC from T0 to T1 [OR (95% CI) = 44.95 (1.54–1311.98)] and to CHr at T1 [OR (95% CI) =3.18 (1.24–8.17)]. Our preliminary data confirm CHr as early and accurate predictor of hematological response to oral iron. PMID:27092272

  8. Cost-Effectiveness of Price Subsidies on Fortified Packaged Infant Cereals in Reducing Iron Deficiency Anemia in 6-23-Month-Old-Children in Urban India

    PubMed Central

    Plessow, Rafael; Arora, Narendra Kumar; Brunner, Beatrice

    2016-01-01

    Introduction Iron deficiency anaemia (IDA) is a major public health problem in India and especially harmful in early childhood due to its impact on cognitive development and increased all-cause mortality. We estimate the cost-effectiveness of price subsidies on fortified packaged infant cereals (F-PICs) in reducing IDA in 6-23-monthold children in urban India. Materials and Methods Cost-effectiveness is estimated by comparing the net social cost of price subsidies with the disability-adjusted life-years (DALYs) averted with price subsidies. The net social costs correspond to the cost of the subsidy minus the monetary costs saved by reducing IDA. The estimation proceeds in three steps: 1) the current lifetime costs of IDA are assessed with a health economic model combining the prevalence of anemia, derived from a large population survey, with information on the health consequences of IDA and their costs in terms of mortality, morbidity, and DALYs. 2) The effects of price subsidies on the demand for F-PICs are assessed with a market survey among 4801 households in 12 large Indian cities. 3) The cost-effectiveness is calculated by combining the findings of the first two steps with the results of a systematic review on the effectiveness of F-PICs in reducing IDA. We compare the cost-effectiveness of interventions that differ in the level of the subsidy and in the socio-economic strata (SES) eligible for the subsidy. Results The lifetime social costs of IDA in 6-23-month-old children in large Indian cities amount to production losses of 3222 USD and to 726,000 DALYs. Poor households incur the highest costs, yet even wealthier households suffer substantial losses. The market survey reveals that few households currently buy F-PICs, with the share ranging from 14% to 36%. Wealthier households are generally more likely to buy FPICs. The costs of the subsidies per DALY averted range from 909 to 3649 USD. Interventions targeted at poorer households are most effective. Almost

  9. Genetics Home Reference: 3-beta-hydroxysteroid dehydrogenase deficiency

    MedlinePlus

    ... not by hormone test. Clin Endocrinol (Oxf). 2003 Mar;58(3):323-31. Citation on PubMed Pang S, ... dehydrogenase deficiency. Endocrinol Metab Clin North Am. 2001 Mar;30(1):81-99, vi-vii. Review. Citation ...

  10. How Can Alpha-1 Antitrypsin Deficiency Be Prevented?

    MedlinePlus

    ... Prevented? You can't prevent alpha-1 antitrypsin (AAT) deficiency because the condition is inherited (passed from ... children through genes). If you inherit two faulty AAT genes, you'll have AAT