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Hormone Research in Pædiatrics

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https://www.readbyqxmd.com/read/28793284/growth-hormone-therapy-in-children-with-kabuki-syndrome-1-year-treatment-results
#1
Dina A Schott, Willem J M Gerver, Constance T R M Stumpel
BACKGROUND/AIMS: Kabuki syndrome (KS) is a rare genetic malformation syndrome, resulting in characteristic features such as short stature. We investigate whether growth hormone (GH) treatment increases linear height and influences body proportions in KS children. METHODS: In this prospective study, 18 genetically confirmed prepubertal KS children (9 females and 9 males) aged from 3.8 to 10.1 years (mean 6.8 ± 2.1 years) were treated with recombinant human GH (rhGH) for 1 year...
August 9, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28772271/remission-phase-in-paediatric-type-1-diabetes-new-understanding-and-emerging-biomarkers
#2
Mireia Fonolleda, Marta Murillo, Federico Vázquez, Joan Bel, Marta Vives-Pi
Type 1 diabetes (T1D) is a metabolic disease of unknown aetiology that results from the autoimmune destruction of the β-cells. Clinical onset with classic hyperglycaemic symptoms occurs much more frequently in children and young adults, when less than 30% of β-cells remain. Exogenous insulin administration is the only treatment for patients. However, due to glucose dysregulation, severe complications develop gradually. Recently, an increase in T1D incidence has been reported worldwide, especially in children...
August 3, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28768282/increased-non-high-density-lipoprotein-cholesterol-in-children-and-young-adults-with-turner-syndrome-is-not-explained-by-bmi-alone
#3
Jennifer C Kelley, Iris Gutmark-Little, Philippe Backeljauw, Vaneeta Bamba
BACKGROUND: Turner syndrome (TS) is associated with an increased risk of cardiovascular disease. Non-high-density lipoprotein cholesterol (non-HDL-C) is a convenient measure of atherogenicity (normal concentration <120 mg/dL) but has not been investigated in TS. We aim to evaluate non-HDL-C patterns in a cohort of pediatric and young adult females with TS. METHODS: A retrospective chart review was used to obtain demographics, body composition, genetic reports, and lipid profiles in females with TS...
August 2, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28746941/occurrence-of-cranial-neoplasms-in-pediatric-patients-with-noonan-syndrome-receiving-growth-hormone-is-screening-with-brain-mri-prior-to-initiation-of-growth-hormone-indicated
#4
Kanthi Bangalore Krishna, Pedro Pagan, Oscar Escobar, Jadranka Popovic
Noonan syndrome (NS) is associated with short stature. Growth hormone treatment has been FDA approved for use in these patients. Children with NS are at a higher risk of developing benign and malignant proliferative disorders, primary brain tumors being one of them. Since growth hormone therapy can worsen the tumor burden, screening with a brain MRI prior to growth hormone initiation in NS patients is strongly recommended. Here we present two NS patients who developed different primary brain tumors while being on growth hormone therapy...
July 26, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28743110/clinical-endocrine-and-molecular-genetic-analysis-of-a-large-cohort-of-saudi-arabian-patients-with-laron-syndrome
#5
Abdullah A Al-Ashwal, Afaf Al-Sagheir, Khushnooda Ramzan, Mohammed Al-Owain, Rabab Allam, Alya Qari, Nouf S Al-Numair, Faiqa Imtiaz
BACKGROUND/AIMS: Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort. SUBJECTS AND METHODS: A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene...
July 25, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28719905/childhood-onset-adult-growth-hormone-deficiency-clinical-hormonal-and-radiological-assessment-in-a-single-center-in-china
#6
Hongbo Yang, Huijuan Zhu, Xuemin Yan, Hui Pan
BACKGROUND: Although growth hormone deficiency (GHD) is an important issue in pediatric patients, adult GHD (AGHD) is a neglected field of endocrinology in China. The aim of this study is to characterize the clinical, hormonal, and radiological features in childhood-onset AGHD (CO AGHD) in a single center in China and to compare them with counterparts from Japan. METHODS: The medical records of 78 Chinese patients with CO AGHD were reviewed and compared with data from the HypoCCS database study from Japan (N = 69)...
July 18, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28715822/long-term-cortisol-concentration-in-scalp-hair-of-asthmatic-children-using-inhaled-corticosteroids-a-case-control-study
#7
Maaike P Smit, Ed H G van Leer, Gerard Noppe, Yolanda B de Rijke, Dieneke Kramer van Driel, Erica L T van den Akker
INTRODUCTION: Inhaled corticosteroids (ICS) can interfere with the hypothalamic-pituitary-adrenal (HPA) axis and may lead to adrenal insufficiency, resulting in a decrease of cortisol production. Cortisol levels measured in scalp hair provide a marker for long-term cortisol exposure. Data regarding hair cortisol concentration (HCC) in asthmatic children with ICS therapy are scarce. The aim of this study is to compare HCC in asthmatic children under ICS treatment with a healthy control group...
July 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28715821/a-history-of-cow-s-milk-allergy-is-associated-with-lower-vitamin-d-status-in-schoolchildren
#8
Jenni Rosendahl, Mikael Fogelholm, Anna Pelkonen, Mika J Mäkelä, Outi Mäkitie, Maijaliisa Erkkola
BACKGROUND/AIMS: Vitamin D insufficiency is common in children. We aimed to evaluate the main determinants of vitamin D status in Finnish school-aged children, including the history of allergic diseases. METHODS: We conducted a cross-sectional study on 171 ten-year-olds where serum 25-hydroxyvitamin D (25[OH]D) levels were measured, and data on food consumption and use of vitamin D supplements were collected. The history of allergic diseases was evaluated with a validated questionnaire...
July 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28715814/the-impact-of-adolescent-obesity-on-adult-height
#9
Avivit Brener, Rachel Bello, Yael Lebenthal, Michal Jacobowitz-Gavan, Moshe Phillip, Shlomit Shalitin
BACKGROUND: Childhood obesity is a major health concern. Excess adiposity during childhood affects growth and puberty. Our aim was to assess whether genetic adult height is compromised in adolescents with obesity. METHODS: In a retrospective study of 190 obese patients followed at our Pediatric Endocrinology Institute, adult height and delta height (the difference between adult height and mid-parental height) were compared to those of 150 healthy age-matched normal-weight controls...
July 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28715810/population-pharmacokinetics-of-diazoxide-in-children-with-hyperinsulinemic-hypoglycemia
#10
Rika Kizu, Kazuko Nishimura, Reiko Sato, Kenjiro Kosaki, Toshiaki Tanaka, Yusuke Tanigawara, Tomonobu Hasegawa
BACKGROUND: Diazoxide is the first-line treatment for pediatric hyperinsulinemic hypoglycemia (HI). This study aimed to elucidate the pharmacokinetics of diazoxide in children with HI. METHODS: We obtained 81 blood samples from 22 children with HI. Measured serum diazoxide concentrations were used for population pharmacokinetic analysis. Patient factors influencing pharmacokinetics were estimated using nonlinear mixed-effects model analysis. Relationships between drug exposure and adverse drug reactions were also investigated...
July 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28697501/born-small-for-gestational-age-and-poor-school-performance-how-small-is-too-small
#11
Linda Lindström, Anna-Karin Wikström, Eva Bergman, Maria Lundgren
AIM: To assess the relationship between severity of small for gestational age (SGA) and the risk of poor school performance, and to investigate whether adult stature modifies this risk. METHODS: 1,088,980 Swedish children born at term between 1973 and 1988 were categorized into severe SGA (less than -3 standard deviations (SD) of expected birth weight), moderate SGA (-2.01 to -3 SD), mild SGA (-1.01 to -2 SD), and appropriate for gestational age (-1 to 0.99 SD)...
July 11, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28693012/stress-measured-by-allostatic-load-in-neurologically-impaired-children-the-importance-of-nutritional-status
#12
Valeria Calcaterra, Hellas Cena, Annalisa de Silvestri, Riccardo Albertini, Mara De Amici, Mario Valenza, Gloria Pelizzo
BACKGROUND: Allostatic load (AL) is the cumulative physiological wear and tear that results from repeated efforts to adapt to stressors over time. The life stress response is modified by nutritional status. AIM: We estimated AL scores among neurologically impaired (NI) children; the association with malnutrition was also evaluated. METHODS: Forty-one patients with severe disabilities were included. Data based on 15 biomarkers were used to create the AL score...
July 10, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28689203/global-application-of-the-assessment-of-communication-skills-of-paediatric-endocrinology-fellows-in-the-management-of-differences-in-sex-development-using-the-espe-e-learning-org-portal
#13
Laura J C Kranenburg, Sam T H Reerds, Martine Cools, Julie Alderson, Miriam Muscarella, Ellie Magrite, Martijn Kuiper, Shereen Abdelgaffar, Antonio Balsamo, Raja Brauner, Jean Pierre Chanoine, Asma Deeb, Patricia Fechner, Alina German, Paul Martin Holterhus, Anders Juul, Berenice B Mendonca, Kristen Neville, Anna Nordenstrom, Wilma Oostdijk, Rodolfo A Rey, Meilan M Rutter, Nalini Shah, Xiaoping Luo, Kalinka Grijpink, Stenvert L S Drop
BACKGROUND: Information sharing in chronic conditions such as disorders of/differences in sex development (DSD) is essential for a comprehensive understanding by parents and patients. We report on a qualitative analysis of communication skills of fellows undergoing training in paediatric endocrinology. Guidelines are created for the assessment of communication between health professionals and individuals with DSD and their parents. METHODS: Paediatric endocrinology fellows worldwide were invited to study two interactive online cases (www...
July 7, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28675902/the-diagnostic-value-of-igf-2-and-the-igf-igfbp-3-system-in-silver-russell-syndrome
#14
Gerhard Binder, Thomas Eggermann, Karin Weber, Nawfel Ferrand, Roland Schweizer
BACKGROUND/AIMS: Recently, we have described a family of 4 members presenting with intrauterine and postnatal growth failure, low IGF-2 levels, and signs of Silver-Russell syndrome (SRS) who carried a genomic IGF2 mutation. Here, we assess the value of IGF-2 in relation to SRS. METHODS: We collected data from 48 SRS children and 48 short children born small for gestational age (SGA) seen at our center. The SRS children were 4.6 ± 2.0 years of age, and the SGA children were 4...
July 4, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28675896/two-siblings-with-a-mutation-in-ccdc8-presenting-with-mild-short-stature-a-case-of-3-m-syndrome
#15
Lihong Liao, Hoong-Wei Gan, Vivian Hwa, Mehul Dattani, Andrew Dauber
BACKGROUND: Short stature can be caused by mutations in a multitude of different genes. 3-M syndrome is a rare growth disorder marked by severe pre- and postnatal growth retardation along with subtle dysmorphic features. There have only been 2 prior reports of mutations in CCDC8 causing 3-M syndrome. METHODS: Two patients presenting with mild short stature underwent whole exome sequencing. The mutation was confirmed via Sanger sequencing. We compare the clinical characteristics of our 2 patients to patients previously reported with mutations in the same gene...
July 4, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28672280/molecular-screening-of-mkrn3-dlk1-and-kcnk9-genes-in-girls-with-idiopathic-central-precocious-puberty
#16
Anna Grandone, Carlo Capristo, Grazia Cirillo, Marcella Sasso, Giuseppina Rosaria Umano, Michela Mariani, Emanuele Miraglia Del Giudice, Laura Perrone
BACKGROUND: Mutations in the imprinted gene MKRN3 have been described as a common genetic cause of idiopathic central precocious puberty (CPP), in particular in familial cases. However, the exact prevalence of mutations is unknown. Single nucleotide polymorphisms in 2 other imprinted genes, DLK1 and KCNK9, have been associated with age at menarche. We investigated the prevalence of mutations in MKRN3, DLK1, and KCNK9 genes in a cohort of girls with idiopathic CPP. METHODS: MKRN3, DLK1, and KCNK9 coding regions were sequenced in 60 girls with idiopathic CPP (familial in 23 cases)...
July 3, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28647736/no-severe-hypercalcemia-with-daily-vitamin-d3-supplementation-of-up-to-30-%C3%A2%C2%B5g-during-the-first-year-of-life
#17
Saara Valkama, Elisa Holmlund-Suila, Maria Enlund-Cerullo, Jenni Rosendahl, Helena Hauta-Alus, Otto Helve, Timo Hytinantti, Heli Viljakainen, Sture Andersson, Outi Mäkitie
BACKGROUND: Vitamin D supplementation is widely recommended for infants, but the optimal dose remains unclear. High intake may result in hypercalcemia. METHODS: We evaluated the incidence of hypercalcemia during the first year of life in a cohort of 987 healthy children who received 10 or 30 μg of vitamin D3 supplementation daily. Ionized calcium (Ca-ion) was analyzed at 6 and 12 months, and serum 25-hydroxyvitamin D (25-OHD) and parathyroid hormone (PTH) concentration at 12 months...
June 23, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28618411/prevalence-and-physical-distribution-of-sry-in-the-gonads-of-a-woman-with-turner-syndrome-phenotypic-presentation-tubal-formation-and-malignancy-risk
#18
Tamar G Baer, Christopher E Freeman, Claudia Cujar, Mahesh Mansukhani, Bahadur Singh, Xiaowei Chen, Rosanna Abellar, Sharon E Oberfield, Brynn Levy
Although monosomy X is the most common karyotype in patients with Turner syndrome, the presence of Y chromosome material has been observed in about 10% of patients. Y chromosome material in patients with Turner syndrome poses an increased risk of gonadoblastoma and malignant transformation. We report a woman with a diagnosis of Turner syndrome at 12 years of age, without signs of virilization, and karyotype reported as 46,X,del(X)(q13). At 26 years, cytogenetic studies indicated the patient to be mosaic for monosomy X and a cell line that contained a du-plicated Yq chromosome...
June 15, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28614818/thyroid-stimulating-hormone-degree-of-obesity-and-metabolic-risk-markers-in-a-cohort-of-obese-swedish-children
#19
Veroniqa Lundbäck, Kerstin Ekbom, Emilia Hagman, Ingrid Dahlman, Claude Marcus
BACKGROUND/AIMS: Thyroid-stimulating hormone (TSH) is affected in obesity and might influence metabolic risk. It is unclear what mechanisms cause elevated TSH in obesity. We aimed to investigate TSH status within the normal range and the association of TSH with degree of obesity and metabolic parameters in children with obesity. METHODS: A total of 3,459 children, aged 3.0-17.9 years, were identified in the Swedish Childhood Obesity Treatment Registry, BORIS. Age, gender, TSH, free triiodothyronine (fT3), free thyroxine (fT4), body mass index standard deviation scores (BMI SDS), as well as variables of lipid and glucose metabolism were examined...
June 14, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28605746/pls3-mutations-in-x-linked-osteoporosis-clinical-and-bone-characteristics-of-two-novel-mutations
#20
Peter Kannu, Areej Mahjoub, Riyana Babul-Hirji, Melissa T Carter, Jennifer Harrington
BACKGROUND AND OBJECTIVES: Plastin 3 (PLS3) mutations are associated with an X-linked osteoporosis. Here we describe two new families with novel mutations, including one with a whole gene PLS3 deletion, and review the literature on 9 previously reported cases. RESULTS: Hemizygous male carriers presented with multiple peripheral bone fractures, low bone mineral density (BMD), and vertebral compression fractures. Heterozygous female carriers did not have a history of fragility fractures, although 1 individual presented with low BMD...
June 12, 2017: Hormone Research in Pædiatrics
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