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Hormone Research in Pædiatrics

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https://www.readbyqxmd.com/read/28196370/in-memoriam-solomon-a-kaplan-1924-2017-%C3%A2
#1
Stephen H LaFranchi
No abstract text is available yet for this article.
February 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28196362/practical-application-of-linear-growth-measurements-in-clinical-research-in-low-and-middle-income-countries%C3%A2
#2
Jan M Wit, John H Himes, Stef van Buuren, Donna M Denno, Parminder S Suchdev
BACKGROUND/AIMS: Childhood stunting is a prevalent problem in low- and middle-income countries and is associated with long-term adverse neurodevelopment and health outcomes. In this review, we define indicators of growth, discuss key challenges in their analysis and application, and offer suggestions for indicator selection in clinical research contexts. METHODS: Critical review of the literature. RESULTS: Linear growth is commonly expressed as length-for-age or height-for-age z-score (HAZ) in comparison to normative growth standards...
February 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28183093/putative-effects-of-obesity-on-linear-growth-and-puberty%C3%A2
#3
Shlomit Shalitin, Wieland Kiess
Childhood obesity is a major public health problem that has grown to epidemic proportions throughout the world. Obesity is influenced by genetic and environmental factors. The nutritional status plays an important role in growth and body weight regulation. Excess adiposity during childhood can affect the process of growth and puberty. Obese children are frequently tall for their age, with accelerated epiphyseal growth plate maturation despite low growth hormone levels. Several regulatory hormones may affect the process of linear growth in the constellation of obesity, as high levels of insulin and leptin are observed in obese children...
February 9, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28166531/challenges-in-the-cross-sectional-assessment-of-cardiovascular-risk-in-children-with-premature-adrenarche-due-to-the-multifaceted-nature-of-atherosclerosis%C3%A2
#4
Ahmet Uçar
No abstract text is available yet for this article.
February 6, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28152538/two-cases-of-mistaken-polyuria-and-nephrocalcinosis-in-infants-with-glucose-galactose-malabsorption-a-possible-role-of-1-25-oh-2d3%C3%A2
#5
Melissa Fiscaletti, Marie-Jeanne Lebel, Nathalie Alos, Geneviève Benoit, Prévost Jantchou
BACKGROUND/AIMS: Glucose-galactose malabsorption (GGM) is a rare and potentially fatal disorder. The autosomal recessive mutation of the SGLT1 gene interferes with the active glucose transport in the gut resulting in osmotic diarrhea and failure to thrive (FTT). Two nonrelated infants with GGM are presented as well as a novel mutation in SGLT1. CASE PRESENTATION: The first case consulted for FTT and presented with hypercalcemia and hypercalciuria. His mother had self-medicated with high doses of vitamin D...
February 2, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28114141/lung-function-in-women-with-idiopathic-central-precocious-puberty-a-pilot-study%C3%A2
#6
Virginia Murri, Franco Antoniazzi, Michele Piazza, Paolo Cavarzere, Claudia Banzato, Attilio Boner, Rossella Gaudino
BACKGROUND: Studies have reported that women with early menarche (≤10 years) have lower lung function. AIM: To investigate lung function in women with a history of idio pathic central precocious puberty (ICPP) treated during childhood with gonadotropin-releasing hormone agonist (GnRHa). METHODS: ICPP women (n = 23) were compared with healthy age-matched controls (n = 23). Subjects were clinically evaluated by means of a questionnaire, baseline and post-β<Sub>2</Sub> agonist spirometry, impulse oscillometry (a measure of airway resistance), and measurement of fractional exhaled nitric oxide (FeNO)...
January 23, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28114130/identifying-cardiovascular-risk-in-survivors-of-childhood-leukaemia-treated-with-haematopoietic-stem-cell-transplantation-and-total-body-irradiation%C3%A2
#7
Christina Wei, Linda Hunt, Rachel Cox, Karin Bradley, Ruth Elson, Julian Shield, Michael Stevens, Elizabeth Crowne
BACKGROUND: Survivors of childhood with haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) have an increased cardiometabolic risk without overt obesity. AIM: To describe cardiometabolic risk in HSCT/TBI survivors and identify anthropometric measurements of adiposity representative of cardiometabolic risks in HSCT/TBI survivors. METHOD: Childhood leukaemia survivors treated with HSCT/TBI (n = 21, 11 males) were compared with chemotherapy-only (n = 31) and obese non-leukaemic controls (n = 30)...
January 23, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28081535/efficacy-and-safety-of-continuous-subcutaneous-infusion-of-recombinant-human-gonadotropins-for-congenital-micropenis-during-early-infancy%C3%A2
#8
Athanasia Stoupa, Dinane Samara-Boustani, Isabelle Flechtner, Graziella Pinto, Isabelle Jourdon, Laura González-Briceño, Maud Bidet, Kathleen Laborde, Didier Chevenne, Anne-Elodie Millischer, Henri Lottmann, Thomas Blanc, Yves Aigrain, Michel Polak, Jacques Beltrand
BACKGROUND: Early postnatal administration of gonadotropins to infants with congenital hypogonadotropic hypogonadism (CHH) can mimic minipuberty, thereby increasing penile growth. We assessed the effects of gonadotropin infusion on stretched penile length (SPL) and hormone levels in infants with congenital micropenis. METHODS: Single-center study including 6 males with micropenis in case of isolated CHH (n = 4), panhypopituitarism (n = 1), and partial androgen insensitivity syndrome (PAIS; n = 1)...
January 12, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28073108/salivary-testosterone-during-the-minipuberty-of-infancy%C3%A2
#9
Maria Contreras, Manish Raisingani, Donald Walt Chandler, William D Curtin, Julia Barillas, Preneet Cheema Brar, Kris Prasad, Bina Shah, Raphael David
BACKGROUND: The hypothalamic-pituitary-gonadal axis is transiently activated during the postnatal months in boys, a phenomenon termed "minipuberty" of infancy, when serum testosterone (T) increases to pubertal levels. Despite high circulating T there are no signs of virilization. We hypothesize that free T as measured in saliva is low, which would explain the absence of virilization. METHODS: We measured serum total T and free T in saliva using liquid chromatography-tandem mass spectrometry (LC-MS/MS) in 30 infant boys, aged 1-6 months, and in 12 adolescents, aged 11-17 years...
January 10, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28068655/carotid-intima-media-thickness-in-children-treated-with-growth-hormone-a-follow-up-study-over-three-years
#10
Juliane Rothermel, Caroline Knop, Nina Lass, Christina Toschke, Rainer Wunsch, Thomas Reinehr
BACKGROUND: There is an ongoing discussion whether high doses of growth hormone (GH) may lead to cardiovascular diseases. Therefore, we studied the longitudinal relationships between GH treatment and carotid intima-media thickness (cIMT), which is predictive of the development of atherosclerosis. METHODS: We measured blood pressure, lipids, hemoglobin HbA1c, IGF-1, IGFBP-3, and cIMT in 28 children treated with supraphysiological doses of GH (mean age 9.8 ± 2.2 years, 39% males) and 36 children suffering from GH deficiency (GHD) and treated with physiological doses of GH (mean age 9...
January 10, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27992861/how-much-nutrition-for-how-much-growth-%C3%A2
#11
Michael Hermanussen, Jan M Wit
BACKGROUND/AIMS: Increasing agreement exists about the use of length-for-age as the indicator of choice in monitoring the long-term impact of chronic nutritional deficiency. Yet, already shortly after World War I, a causal link between nutrition and growth was questioned. Also, modern meta-analyses of controlled nutrition intervention studies show that the net effect of nutrition on body height is small. Broad evidence obtained from historic observations on human starvation made since the 19th century questions an obligatory association between nutrition and growth...
December 19, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27978531/steroidogenic-factor-1-sf-1-nr5a1-and%C3%A2-46-xx-ovotesticular-disorders-of-sex-development-%C3%A2-one-factor-many-phenotypes%C3%A2
#12
Kenneth McElreavey, John C Achermann
No abstract text is available yet for this article.
December 15, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27951541/pubertal-development-in%C3%A2-17beta-hydroxysteroid-dehydrogenase-type-3-deficiency%C3%A2
#13
Olaf Hiort, Louise Marshall, Wiebke Birnbaum, Lutz Wünsch, Paul-Martin Holterhus, Ulla Döhnert, Ralf Werner
BACKGROUND: 17β-hydroxysteroid dehydrogenase (17β-HSD) type 3 deficiency is an autosomal recessive disorder with diminished testosterone synthesis and consequently underandrogenisation. 46,XY patients with 17β-HSD type 3 deficiency are often assigned a female sex at birth but have a high virilisation potential at the time of puberty. METHODS: We studied four 46,XY patients with 17β-HSD type 3 deficiency at puberty with regard to the underlying mutations, the hormone values, and the clinical findings...
December 12, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27931036/clinical-exome-sequencing-reveals-mkrn3-pathogenic-variants-in-familial-and-nonfamilial-idiopathic-central-precocious-puberty
#14
Nelmar Valentina Ortiz-Cabrera, Rosa Riveiro-Álvarez, Miguel Ángel López-Martínez, Pilar Pérez-Segura, Isabel Aragón-Gómez, María José Trujillo-Tiebas, Leandro Soriano-Guillén
BACKGROUND/AIMS: Idiopathic central precocious puberty (ICPP) is the premature activation of the hypothalamic-pituitary-gonadal axis in the absence of organic disease. Up to now, just gain-of-function mutations of KISS1/KISS1R and loss-of-function mutations of the maternally imprinted gene MKRN3 are the known genetic causes of ICPP. Our intention is to evaluate variants present in genes related to the pubertal onset pathway that could act as disease-causing or predisposing variants. METHODS: We studied the clinical exome of 20 patients diagnosed with ICPP using the Illumina platform...
December 9, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27898418/rapid-molecular-genetic-diagnosis-with-next-generation-sequencing-in-46-xy-disorders-of-sex-development-cases-efficiency-and-cost-assessment
#15
Samim Özen, Hüseyin Onay, Tahir Atik, Aslı Ece Solmaz, Ferda Özkınay, Damla Gökşen, Şükran Darcan
BACKGROUND/AIM: The aim of this study was to use targeted next-generation sequencing (TNGS) including all known genes associated with 46,XY disorders of sex development (DSD) for a fast molecular genetic diagnosis. METHODS: Twenty pediatric patients were recruited, and 56 genes related to 46,XY DSD were sequenced using TNGS. The time elapsed between initial appointment and final diagnosis as well as the mean expenditure was determined. RESULTS: A total of 9 (45%) mutations in 4 different genes were identified...
November 30, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28013309/clinical-and-genetic-characterization-of-tunisian-children-with-hereditary-1-25-dihydroxyvitamin-d-resistant-rickets
#16
Salma Ben Ameur, Caroline Silve, Imene Chabchoub, Fatma Damak, Fatma Kamoun, Aurélie Toussaint, Sana Kmiha, Lamia Sfaihi, Ines Maaloul, Thouraya Kamoun, Hajer Aloulou, Mongia Hachicha
BACKGROUND: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by the early onset of rickets and is caused by mutations in the vitamin D receptor (VDR) gene. Some HVDRR patients also have alopecia. PATIENTS AND METHODS: We retrospectively studied the clinical features, laboratory findings, genetic defects, as well as responses to treatment in a series of children with HVDRR. RESULTS: Eight patients from 7 families met the inclusion criteria...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28002818/safety-outcomes-and-near-adult-height-gain-of-growth-hormone-treated-children-with-shox-deficiency-data-from-an-observational-study-and-a-clinical-trial
#17
Imane Benabbad, Myriam Rosilio, Christopher J Child, Jean-Claude Carel, Judith L Ross, Cheri L Deal, Stenvert L S Drop, Alan G Zimmermann, Nan Jia, Charmian A Quigley, Werner F Blum
BACKGROUND/AIMS: To assess auxological and safety data for growth hormone (GH)-treated children with SHOX deficiency. METHODS: Data were examined for GH-treated SHOX-deficient children (n = 521) from the observational Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS). For patients with near-adult height information, GeNeSIS results (n = 90) were compared with a clinical trial (n = 28) of SHOX-deficient patients. Near-adult height was expressed as standard deviation score (SDS) for chronological age, potentially increasing the observed effect of treatment...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27978517/management-of-fetal-and-neonatal-graves-disease
#18
Juliane Léger
Fetal and neonatal autoimmune hyperthyroidism is a rare, serious but transient disorder. Early diagnosis and treatment are key objectives for an optimal prognosis and the well-being of the child. This review focuses on the management of these patients during the fetal and neonatal periods. We propose a diagnostic algorithm for high-risk pregnancies in mothers with current or past hyperthyroidism related to Graves' disease, involving repeated fetal thyroid gland assessments from 20 weeks of gestation onwards and maternal serum thyroid-stimulating hormone receptor antibody (TRAb) determination, with close monitoring if TRAb levels exceed 2 to 3 times the upper limit of the normal range...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27974716/early-bmi-gain-and-later-height-growth-predicts-higher-dheas-concentrations-in-7-year-old-chilean-children
#19
Verónica Mericq, Ana Pereira, Ricardo Uauy, Camila Corvalán
BACKGROUND: Accelerated weight and height gain in infancy have been associated with premature adrenarche. However, the exact tempo of these events remains undefined. Thus, our goal was to assess the relationship between early BMI and height growth in different periods before 7 years of age and plasma DHEAS levels at 7 years of age. METHODS: This is a longitudinal follow-up of participants of the Growth and Obesity Chilean Cohort Study (GOCS) that represents Chilean children from low- to middle-income families...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27951529/predictor-variables-of-developing-anterior-pituitary-deficiencies-in-a-group-of-paediatric-patients-with-central-diabetes-insipidus-and-langerhans-cell-histiocytosis
#20
Elisa Vaiani, Carmen Malossetti, Lina Margarita Vega, Pedro Zubizarreta, Jorge Braier, Alicia Belgorosky
BACKGROUND: Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder of unknown etiopathogenesis. Central diabetes insipidus (CDI) is the most frequent endocrine manifestation and is a known risk factor for the development of further anterior pituitary hormone deficiencies (APD). However, not all CDI patients develop APD, as observed during prolonged periods of follow-up. AIM: To find predictors of developing APD in LCH children with CDI followed in our institution...
2017: Hormone Research in Pædiatrics
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