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Journal of Pediatric Endocrinology & Metabolism: JPEM

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https://www.readbyqxmd.com/read/28586305/a-combined-approach-to-generate-laboratory-reference-intervals-using-unbalanced-longitudinal-data
#1
Mandy Vogel, Toralf Kirsten, Jürgen Kratzsch, Christoph Engel, Wieland Kiess
BACKGROUND: The interpretation of individual laboratory test results requires the availability of population-based reference intervals. In children, reference interval estimation has to consider frequently the strong age-dependency. Generally, for the construction of reference intervals, a sufficiently large number of independent measurement values is required. Data selections from hospitals or cohort studies often comprise dependencies violating the independence assumption. METHODS: In this article, we propose a combination of LMS-like (mean, M; coefficient of variation, S; skewness, λ or L) and resampling methods to overcome this drawback...
June 6, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28593914/improved-metabolic-control-in-tetrahydrobiopterin-bh4-responsive-phenylketonuria-with-sapropterin-administered-in-two-divided-doses-vs-a-single-daily-dose
#2
Deniz Kör, Berna Şeker Yılmaz, Fatma Derya Bulut, Serdar Ceylaner, Neslihan Önenli Mungan
BACKGROUND: Phenylketonuria (PKU) often requires a lifelong phenylalanine (Phe)-restricted diet. Introduction of 6R-tetrahydrobiopterin (BH4) has made a huge difference in the diets of patients with PKU. BH4 is the co-factor of the enzyme phenylalanine hydroxylase (PAH) and improves PAH activity and, thus, Phe tolerance in the diet. A limited number of published studies suggest a pharmacodynamic profile of BH4 more suitable to be administered in divided daily doses. METHODS: After a 72-h BH4 loading test, sapropterin was initiated in 50 responsive patients...
June 5, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28593913/excessive-weight-gain-in-exclusively-breast-fed-infants
#3
Carola Saure, Marisa Armeno, Consuelo Barcala, Vanesa Giudici, Carmen Silvia Mazza
BACKGROUND: Breastfeeding is recommended as the best source of nutrition in the first months of life and observational studies have associated exclusive breastfeeding with decreased weight gain and a protective effect against obesity in childhood. The objective of this study was to describe the characteristics of a cohort of exclusively breastfed obese infants to determine factors that may lead to this unusual weight gain. METHODS: Infants seen between 2003 and 2015 who were exclusively breastfed and showed excessive weight gain in the first year of life were followed with a focus on features of the mother, the child, feeding patterns and the presence of concomitant factors that influence nutritional status...
June 3, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28599390/fructose-1-6-bisphosphatase-deficiency-caused-by-a-novel-homozygous-alu-element-insertion-in-the-fbp1-gene-and-delayed-diagnosis
#4
Somashekara Hosaagrahara Ramakrishna, Siddaramappa Jagdish Patil, Anusha Aladakatte Jagadish, Anil Kumar Sapare, Hiremath Sagar, Subramanian Kannan
Fructose-1,6-bisphosphatase (FBPase) enzyme deficiency is one of the treatable autosomal recessive inherited metabolic disorders. If diagnosed early, FBPase deficiency has a favorable prognosis. We report the clinical and biochemical findings of a 9.5-year-old female child with FBPase deficiency. FBPase deficiency is caused by a homozygous Arthrobacter luteus (Alu) insertion in the FBP1 gene, reported for the first time.
May 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28599389/oral-administration-of-diluted-nasal-desmopressin-in-managing-neonatal-central-diabetes-insipidus
#5
Meenal Mavinkurve, Niamh McGrath, Niall Johnston, Sinead Moloney, Nuala P Murphy, Colin P Hawkes
BACKGROUND: Neonatal central diabetes insipidus (NCDI) remains a therapeutic challenge, as extremely low doses of enteral desmopressin cannot be titrated with current preparations. The aim of this study was to describe the use of orally administered dilute desmopressin in NCDI. METHODS: Nasal desmopressin (100 μg/mL) was diluted in 0.9% saline to 10 μg/mL. Infants were treated with 1-5 μg and doses were titrated to a twice-daily regimen. The feed volume was 150 mL/kg/day and titrated according to weight gain...
May 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28599388/assessment-of-stress-levels-in-girls-with-central-precocious-puberty-before-and-during-long-acting-gonadotropin-releasing-hormone-agonist-treatment-a-pilot-study
#6
Tais A S Menk, Marlene Inácio, Delanie B Macedo, Danielle S Bessa, Ana C Latronico, Berenice B Mendonca, Vinicius Nahime Brito
BACKGROUND: The objective of the study was to determine the stress levels of girls with central precocious puberty (CPP) before and during treatment with a long-acting gonadotropin-releasing hormone agonist (GnRHa). METHODS: The Child Stress Scale (CSS) was used for 10 unrelated girls with CPP before and after the first year of GnRHa treatment. The CSS is divided into four subscales (physical, psychological, psychological with depressive component and psychophysiological reactions)...
May 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28432848/trends-in-the-prevalence-of-extreme-obesity-among-korean-children-and-adolescents-from-2001-to-2014
#7
Hyo-Kyoung Nam, Hye Ryun Kim, Young-Jun Rhie, Kee-Hyoung Lee
BACKGROUND: We assessed nationwide trends in extreme obesity prevalence and its impact on metabolic syndrome in Korean youth. METHODS: Data from 19,593 youth (10,271 boys) aged 2-19 were obtained from the Korean National Health and Nutrition Examination Surveys (2001-2014). The prevalence of extreme obesity and the odds ratio of metabolic syndrome were calculated. Questionnaires on body weight perceptions and weight control behaviors were administered. RESULTS: The prevalence of extreme obesity increased significantly among boys (p<0...
April 22, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28432847/genotype-phenotype-correlation-in-paediatric-pheochromocytoma-and-paraganglioma-a-single-centre-experience-from-india
#8
Kranti Khadilkar, Vijaya Sarathi, Rajeev Kasaliwal, Reshma Pandit, Manjunath Goroshi, Vyankatesh Shivane, Anurag Lila, Tushar Bandgar, Nalini S Shah
BACKGROUND: Data on genotype-phenotype correlation in children is limited. Hence, we studied the prevalence of germline mutations and genotype-phenotype correlation in children with pheochromocytoma (PCC)/paraganglioma (PGL) and compared it with adult PCC/PGL cohort. METHODS: A total of 121 consecutive, unrelated, index PCC/PGL patients underwent genetic testing for five PCC/PGL susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) and were evaluated for clinical diagnosis of neurofibromatosis type1 (NF1)...
April 22, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28422705/plasma-kisspeptin-and-ghrelin-levels-in-puberty-variant-cases
#9
Erdal Kurnaz, Yaşar Şen, Süleyman Aydın
BACKGROUND: The aim of this study was to determine the serum levels of kisspeptin and ghrelin (GAH), as well as the relationship of these two peptides with each other in premature thelarche (PT) and premature adrenarche (PA) cases and to investigate the possibility of using these peptides as markers in the differentiation of puberty disorders. METHODS: A PT group aged 1-8 years (n = 40), a PA group aged 1-9 years (n = 23, female/male = 20/3) and control groups consistent with each of the previous groups in terms of age and gender were created for the study...
April 19, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28391254/primary-pigmented-nodular-adrenocortical-disease-literature-review-and-case-report-of-a-6-year-old-boy
#10
Dragan Katanić, Dejan Kafka, Mirjana Živojinov, Jovan Vlaški, Zorana Budakov, Marija Knežević Pogančev, Ivana Vorgučin, Tomislav Ćuk
Cushing's syndrome is rare in childhood and is usually caused by a pituitary adenoma. Primary hyperfunction of adrenal glands is less frequent, particularly primary pigmented nodular adrenocortical disease (PPNAD). It occurs usually in children and adolescents, with female preponderance, while Cushing's disease has increased frequency in prepubertal males. A case of a 6-year-old boy is presented with isolated non-familiar PPNAD. The clinical pattern involved Cushingoid appearance, hypertension, virilization and depressive mood...
April 10, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28593868/pediatric-endocrinology-is-pediatrics-is-public-health
#11
Wieland Kiess, Melanie Penke, Jürgen Kratzsch, Mandy Vogel, Thomas Kapellen, Julia Hoppmann, Julia Gesing, Ruth Gausche, Sabine Klamt, Antje Körner, Roland Pfäffle
No abstract text is available yet for this article.
March 30, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28358714/effects-of-l-thyroxine-treatment-on-heart-functions-in-infants-with-congenital-hypothyroidism
#12
Alev Arslan, Veysel Nijat Baş, Salih Uytun, Hatice Gamze Poyrazoğlu
BACKGROUND: Impaired heart functions in newborns with hypothyroidism should be reversed by levothyroxine substitution therapy. The aim of the study was to investigate heart functions with congenital hypothroidism (CH) in newborns and changes after levothyroxine substitution therapy, measured with tissue Doppler echocardiography and conventional echocardiography. METHODS: The study included 30 neonates with CH and 34 healthy controls. Echocardiography were performed at baseline, 2nd week and 6th month of therapy...
March 30, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28350539/personalized-precision-medicine-in-extreme-preterm-infants-with-transient-neonatal-diabetes-mellitus
#13
Ranjit I Kylat, Rajan Senguttuvan, Mohammed Y Bader
Although hyperglycemia is common in neonates, especially preterm infants, a diagnosis of neonatal diabetes mellitus (NDM) is rarely made. NDM can be permanent (45%), transient (45%) or syndromic (10%). Of the 95% of identifiable mutations for NDM, methylation defects in 6q24, KCNJ11, ABCC8, and INS account for the majority. Two cases of transient NDM in extremely preterm, 24 weeks' gestational age (GA) triplets, due to a missense mutation c.685G>A in the KCNJ11 gene are presented. Both patients were successfully transitioned from insulin to Glyburide (Glibenclamide) at 2 months of age...
March 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28350538/possible-effects-of-neonatal-vitamin-b12-status-on-tsh-screening-program-a-cross-sectional-study-from-turkey
#14
Zerrin Onal, Seda Balkaya, Atilla Ersen, Neval Mutlu, Hasan Onal, Erdal Adal
BACKGROUND: In this study we evaluated whether vitamin B12 deficiency affects neonatal screening (NS) for congenital hypothyroidism (CH). METHODS: A cross-sectional study conducted from 2010 to 2011. A total of 10,740 infants were born in our hospital in this period. Thyroid-stimulating hormone (TSH) was tested for NS and neonates with abnormal screening results (TSH>20 mIU/L) were re-examined. Two hundred and twenty-nine re-called subjects (re-call rate 2.3%) were compared to 77 randomly selected newborns with normal TSH screening among these term newborns in terms of serum TSH, free T4, vitamin B12 and homocysteine status...
March 28, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28599375/multiple-effects-of-probiotics-on-different-types-of-diabetes-a-systematic-review-and-meta-analysis-of-randomized-placebo-controlled-trials
#15
REVIEW
Xia Wang, Qi-Fang Juan, Yu-Wei He, Li Zhuang, Yuan-Yuan Fang, Yong-Hong Wang
BACKGROUND: A systematic review and meta-analysis was designed to evaluate the effect of probiotics on diabetes and its associated risk factors. METHODS: We systematically searched the Cochrane Library, PubMed, EMBASE and Web of Science to June 2016. We also hand-searched the citation lists of included studies and previously identified systematic reviews to identify further relevant trials. Our primary outcome variables included glucose, glycated hemoglobin (HbA1c) and insulin...
May 24, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28593907/opioid-induced-hyponatremia-in-a-patient-with-central-diabetes-insipidus-independence-from-adh
#16
Nandini Bhat, Erjola Balliu, Jennifer Osipoff, Andrew Lane, Thomas Wilson
Hyponatremia can be a complication of opioid therapy, which has been postulated to occur secondary to inappropriate antidiuretic hormone secretion (syndrome of inappropriate antidiuretic hormone secretion [SIADH]). We report severe hyponatremia following wisdom teeth extraction with opioid analgesia in a 19-year-old female with diabetes insipidus (DI) and acquired panhypopituitarism that challenges this theory. As this patient has DI, we believe opioid treatment caused severe hyponatremia by the following mechanisms: (1) Opioids have a direct antidiuretic effect independent of changes in ADH, as demonstrated in Brattleboro rats with central DI...
May 24, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28525355/does-body-fat-percentage-predict-post-exercise-heart-rate-response-in-non-obese-children-and-adolescents
#17
Tatjana Jezdimirovic, Valdemar Stajer, Sasa Semeredi, Julio Calleja-Gonzalez, Sergej M Ostojic
BACKGROUND: A correlation between adiposity and post-exercise autonomic regulation has been established in overweight and obese children. However, little information exists about this link in non-obese youth. The main purpose of this cross-sectional study was to describe the relationship between body fat percentage (BFP) and heart rate recovery after exercise [post-exercise heart rate (PEHR)], a marker of autonomic regulation, in normal-weight children and adolescents. METHODS: We evaluated the body composition of 183 children and adolescents (age 15...
May 24, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28525354/the-relationship-between-insulin-resistance-and-endothelial-dysfunction-in-obese-adolescents
#18
Preneet Cheema Brar, Payal Patel, Stuart Katz
BACKGROUND: Insulin resistance and endothelial dysfunction share a reciprocal relationship that links the metabolic and cardiovascular sequelae of obesity. We characterized the brachial artery reactivity testing (BART) and carotid artery-intima media thickness (CIMT) in adolescents categorized as obese insulin resistant (OIR) and obese not insulin resistant (ONIR). Lipoprotein particle (p) analysis and inflammatory cytokines in OIR and ONIR groups were also analyzed. METHODS: Obese adolescents (n=40; mean body mass index [BMI] 35...
May 24, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28525353/molecular-genetics-of-growth-hormone-deficient-children-correlation-with-auxology-and-response-to-first-year-of-growth-hormone-therapy
#19
Vaman Khadilkar, Nikhil Phadke, Kavita Khatod, Veena Ekbote, Supriya Phanse Gupte, Ruchi Nadar, Anuradha Khadilkar
BACKGROUND: With the paucity of available literature correlating genetic mutation and response to treatment, we aimed to study the genetic makeup of children with growth hormone (GH) deficiency in Western India and correlate the mutation with auxology and response to GH treatment at end of 1 year. METHODS: Fifty-three (31 boys and 22 girls) children with severe short stature (height for age z-score <-3) and failed GH stimulation test were studied. Those having concomitant thyroid hormone or cortisol deficiencies were appropriately replaced prior to starting GH treatment...
May 24, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28525352/evaluation-of-endocrine-and-metabolic-dysfunctions-after-hematopoietic-stem-cell-transplantation-in-children-a-study-from-turkey
#20
Dilek Gurlek Gokcebay, Fatih Azik, Cengiz Bayram, Arzu Yazal Erdem, Ali Fettah, Pamir Isik, Nese Yarali, Fatma Demirel, Bahattin Tunc, Namik Ozbek
BACKGROUND: Endocrine organs are highly susceptible to effects of high-dose chemotherapy. The objective of the study was to evaluate endocrine and metabolic complications after hematopoietic stem cell transplantation (HSCT) in children. METHODS: The patients who underwent HSCT in our center from April 2010 to October 2014 with at least 1 year follow-up were analyzed retrospectively. RESULTS: One-hundred children (M/F:59/41; mean age 8.9±4...
May 24, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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