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Journal of Pediatric Endocrinology & Metabolism: JPEM

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https://www.readbyqxmd.com/read/28231063/bone-age-in-unilateral-spastic-cerebral-palsy-is-there-a-correlation-with-hand-function-and-limb-length
#1
Je-Sang Lee, Im Jeong Choi, Myung Jun Shin, Jin-A Yoon, Sung Hwa Ko, Yong Beom Shin
BACKGROUND: The purpose of this study was to analyze the bone age and the upper extremity segmental lengths between the affected and the unaffected side and to reveal the correlation between the difference of bone age and the upper limb length discrepancy in the unilateral spastic cerebral palsy (CP). We also evaluated the relationship between difference of bone age and hand function. METHODS: Seventy-eight patients participated in this study. The bone ages of hand-wrists of the patients were determined by the Greulich and Pyle atlas...
February 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28222036/vascular-risk-factors-are-associated-with-retinal-arteriolar-narrowing-and-venular-widening-in-children-and-adolescents-with-type-1-diabetes
#2
Stuart Keel, Catherine Itsiopoulos, Konstandina Koklanis, Meri Vukicevic, Fergus Cameron, Laima Brazionis
BACKGROUND: The aim of the study was to describe the relationship of retinal arteriolar and venular calibre with vascular risk factors in children and adolescents with type 1 diabetes. METHODS: In this hospital-based cross-sectional study, the medical files of 483 children and adolescents with type 1 diabetes were audited to collect retinal images and relevant clinical data. Retinal vascular calibre was measured using standardised protocols. RESULTS: After multivariable adjustments, a vascular risk profile that included: older age, higher serum creatinine, higher systolic blood pressure (SBP), higher body mass index (BMI), abnormal estimated glomerular filtration rate (eGFR), lower high-density lipoproteins (HDL) cholesterol, longer duration of diabetes and higher serum sodium was associated with narrower central retinal artery equivalent (CRAE) (95% CI=-4...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28222035/nutritional-status-and-metabolic-profile-in-neurologically-impaired-pediatric-surgical-patients
#3
Gloria Pelizzo, Valeria Calcaterra, Veronica Carlini, Mario Fusillo, Matteo Manuelli, Catherine Klersy, Noemi Pasqua, Elona Luka, Riccardo Albertini, Mara De Amici, Hellas Cena
BACKGROUND: Malnutrition is reported in pediatric neuromotor disability and impacts the child's health. We described the nutritional and metabolic status in neurologically impaired (NI) children undergoing surgery. METHODS: Anthropometry, body composition, hormonal and nutritional evaluations were performed in 44 NI subjects (13.7±8.0 years). Energy needs were calculated by Krick's formula. Metabolic syndrome (MS) was defined applying the following criteria (≥3 defined MS): fasting blood glucose >100 mg/dL and/or homeostasis model assessment for insulin resistance (HOMA-IR) >97...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28222034/three-cases-of-gordon-syndrome-with-dominant-klhl3-mutations
#4
Ji Soo Park, Eujin Park, Hye Sun Hyun, Yo Han Ahn, Hee Gyung Kang, Il-Soo Ha, Hae Il Cheong
BACKGROUND: Gordon syndrome (GS) is a rare form of monogenic hypertension characterized by low renin hypertension, hyperkalemia, hyperchloremic metabolic acidosis, and normal glomerular filtration rate. To date, four genes causing GS have been identified as: WNK1, WNK4, CUL3, and KLHL3. CASE REPORT: We report three cases of GS in two families. All patients presented with typical clinical features of GS and had a known dominant KLHL3 mutation. Oral thiazide treatment with low salt diet resulted in normalization of blood pressure and serum electrolytes in all three cases...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28222033/non-hdl-cholesterol-and-c-reactive-protein-in-children-and-adolescents-with-type-1-diabetes
#5
María Mercedes Prado, Teresita Carrizo, Adela Victoria Abregú, Tomás Meroño
BACKGROUND: To what extent high sensitivity C-reactive protein (hsCRP) is associated with known cardiovascular risk factors in children with type 1 diabetes (T1D) has not been fully explored. METHODS: Forty-two T1D children (age: 12+/-1 years) without hypertension, retinopathy, hypothyroidism, albuminuria or other endocrine diseases and 20 controls were studied. Out of the 42 T1D patients studied 57% were prepubertal or early pubertal (Tanner I/II), 38% were pubertal (Tanner III/IV) and 5% post-pubertal (Tanner V)...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28222032/unexplained-cyanosis-caused-by-hepatopulmonary-syndrome-in-a-girl-with-apeced-syndrome
#6
Fatih Celmeli, Abdullah Kocabas, Ishak A Isik, Mesut Parlak, Kai Kisand, Serdar Ceylaner, Doga Turkkahraman
Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare but devastating primary immunodeficiency disease caused by loss-of-function mutations in autoimmune regulator (AIRE) gene on chromosome 21q22.3. The clinical spectrum of the disease is characterized by a wide heterogeneity because of autoimmune reactions toward different endocrine and non-endocrine organs. Here, we report a 17-year-old Turkish girl diagnosed with APECED at 9 years in whom a novel homozygote mutation in AIRE gene p...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28222031/a-retrospective-analysis-of-longitudinal-changes-in-bone-mineral-content-in-cystic-fibrosis
#7
Adela Chirita-Emandi, Sheila Shepherd, Andreas Kyriakou, Jane D McNeilly, Carol Dryden, Donna Corrigan, Anne Devenny, Syed Faisal Ahmed
BACKGROUND: We aimed to describe the longitudinal changes in bone mineral content and influencing factors, in children with cystic fibrosis (CF). METHODS: One hundred children (50 females) had dual X-ray absorptiometry (DXA) performed. Of these, 48 and 24 children had two to three scans, respectively over 10 years of follow-up. DXA data were expressed as lumbar spine bone mineral content standard deviation score (LSBMCSDS) adjusted for age, gender, ethnicity and bone area...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28207417/adrenarche-unmasks-compound-heterozygous-3%C3%AE-hydroxysteroid-dehydrogenase-deficiency-c-244g-a-p-ala82thr-and-the-novel-931c-t-p-gln311-variant-in-a-non-salt-wasting-severely-undervirilised-46xy
#8
Stephanie Louise Teasdale, Adam Morton
3β-Hydroxysteroid dehydrogenase type II deficiency (3βHSD2) congenital adrenal hyperplasia is a rare cause of ambiguous genitalia, resulting in abnormal virilisation in both 46XY and 46XX. We describe a case of 46XY ambiguous genitalia that was misdiagnosed as androgen insensitivity syndrome. The correct diagnosis was made after adrenarche. Genotyping demonstrated compound heterozygosity in two alleles, the previously described c.244G>A (p.Ala82Thr), and a novel 931C>T(p.Gln311*) variant. We suggest that adrenarche unmasked the condition by driving cortisol production to rates that caused the mutant 3bHSD2 enzyme to become rate limiting for cortisol production...
February 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28207416/are-aromatase-inhibitors-in-boys-with-predicted-short-stature-and-or-rapidly-advancing-bone-age-effective-and-safe
#9
Jessica A Ferris, Mitchell E Geffner
BACKGROUND: The aim of this study was to assess aromatase inhibitor (AI) efficacy in increasing predicted adult height (PAH) and to describe clinical and biochemical safety profiles of AI-treated boys. METHODS: A retrospective chart review was conducted at an academic children's hospital endocrinology clinic. Twenty-one boys with predicted short stature and/or rapidly advancing bone age, divided as Tanner stage (TS) I-III Group 1 (G1, n=9) and TS IV-V Group 2 (G2, n=12), were treated with AIs, either letrozole or anastrozole (mean duration, G1: 2...
February 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28195550/novel-germline-mutation-leu512met-in-the-thyrotropin-receptor-gene-tshr-leading-to-sporadic-non-autoimmune-hyperthyroidism
#10
Stephanie A Roberts, Jennifer E Moon, Andrew Dauber, Jessica R Smith
BACKGROUND: Primary nonautoimmune hyperthyroidism is a rare cause of neonatal hyperthyroidism. This results from an activating mutation in the thyrotropin-receptor (TSHR). It can be inherited in an autosomal dominant manner or occur sporadically as a de novo mutation. Affected individuals display a wide phenotype from severe neonatal to mild subclinical hyperthyroidism. We describe a 6-month-old boy with a de novo mutation in the TSHR gene who presented with accelerated growth, enlarging head circumference, tremor and thyrotoxicosis...
February 14, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28186955/cross-sectional-analysis-of-universal-vitamin-d-supplementation-in-former-east-germany-during-the-first-year-of-life
#11
Aris Siafarikas, Alfons Deichl, Gerhard Jahreis, Angela Pieplow, Hartmut Vogel, Eberhard Kauf, Anna-Elisabeth Kapuhs, Elke Badeke, Günter Berger, Hans Kändler, Volker Hesse
BACKGROUND: Universal vitamin D supplementation is controversial. Preventative examinations and public health initiatives in former East Germany that included vitamin D prophylaxis for children were regulated by official recommendations and guidelines. The aim of this study is to analyse the impact of a standardised nationwide guideline for universal supplementation with 400 International Units (IU) vitamin D3/day during the first year of life on clinical and biochemical parameters and the influence of surrounding factors...
February 10, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28170340/adrenocortical-neoplasms-in-adulthood-and-childhood-distinct-presentation-review-of-the-clinical-pathological-and-imaging-characteristics
#12
Andréa Farias de Melo-Leite, Paula Condé Lamparelli Elias, Sara Reis Teixeira, Silvio Tucci, Gyl Eanes Barros, Sonir R Antonini, Valdair Francisco Muglia, Jorge Elias
Adrenocortical tumors (ACT) in adulthood and childhood vary in clinical, histopathological, molecular, prognostic, and imaging aspects. ACT are relatively common in adults, as adenomas are often found incidentally on imaging. ACT are rare in children, though they have a significantly higher prevalence in the south and southeast regions of Brazil. In clinical manifestation, adults with ACT present more frequently with glucocorticoid overproduction (Cushing syndrome), mineralocorticoid syndromes (Conn syndrome), or the excess of androgens in women...
February 7, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28085676/growth-hormone-deficiency-in-mitochondrial-disorders
#13
Josef Finsterer, Marlies Frank
No abstract text is available yet for this article.
January 13, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28085673/total-body-fat-abdominal-fat-body-fat-distribution-and-surrogate-markers-for-health-related-to-adipocyte-fatty-acid-binding-protein-fabp4-in-children
#14
Magnus Dencker, Anton Danielson, Magnus K Karlsson, Per Wollmer, Lars B Andersen, Ola Thorsson
BACKGROUND: The aim of the study was to assess possible relationships between adipocyte fatty acid-binding protein (FABP4) and total body fat (TBF), abdominal fat, body fat distribution, aerobic fitness, blood pressure, cardiac dimensions and the increase in body fat over 2 years in a community sample of children. METHODS: A cross-sectional study was used in a community sample of 170 (92 boys and 78 girls) children aged 8-11 years. TBF and abdominal fat (AFM) were measured by dual-energy X-ray absorptiometry (DXA)...
January 13, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28076316/changes-of-thyroid-hormonal-status-in-patients-receiving-ketogenic-diet-due-to-intractable-epilepsy
#15
Engin Kose, Orkide Guzel, Korcan Demir, Nur Arslan
BACKGROUND: Ketogenic diet (KD), which is high in fat and low in carbohydrates, mimics the metabolic state of starvation and is used therapeutically for pharmacoresistant epilepsy. It is known that generation of triiodothyronine (T3) from thyroxine (T4) decreases during fasting periods. The aim of this study was to evaluate the thyroid function of children receiving KD for at least 1 year due to drug-resistant epilepsy. METHODS: A total of 120 patients [63 males, 52...
January 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27997353/vitamin-d-status-in-egyptian-children-with-type-1-diabetes-and-the-role-of-vitamin-d-replacement-in-glycemic-control
#16
Mona Hafez, Mona Hassan, Noha Musa, Sahar Abdel Atty, Sally Abdel Azim
BACKGROUND: The association of low serum 25 hydroxy cholecalciferol (25OHD) levels with high glucose level and diminished insulin sensitivity suggests that vitamin D (VD) may modulate insulin metabolism. The aim of the study was to screen for vitamin D deficiency (VDD) in pediatric patients with type 1 diabetes (T1D) and study the effect of VD supplementation on their glycemic control and insulin requirements. METHODS: A prospective cohort study including 50 patients with T1D...
December 20, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27977406/vitamin-d-supplementation-the-metabolic-syndrome-and-oxidative-stress-in-obese-children
#17
Tal Grunwald, Shruti Fadia, Bruce Bernstein, Matthew Naliborski, Shufang Wu, Francesco De Luca
BACKGROUND: Previous studies suggest that vitamin D may play a role in cardiovascular and metabolic health. Oxidative stress has also been implicated in the development of cardiovascular disease. Evidence suggests that vitamin D deficiency may contribute to the occurrence of oxidative stress. This study aimed to determine whether treatment and correction of vitamin D deficiency in obese children led to changes in their metabolic profile, independent of changes in adiposity. In addition, we aimed to determine whether vitamin D deficiency and oxidative stress are causally related in obese children...
December 15, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28125404/bone-mineral-density-and-bone-metabolic-markers-status-in-children-with-neurofibromatosis-type-1
#18
Hatice Gamze Poyrazoğlu, Veysel Nijat Baş, Alev Arslan, Funda Bastug, Mehmet Canpolat, Hüseyin Per, Hakan Gümüs, Sefer Kumandas
BACKGROUND: Neurofibromatosis type 1 (NF1) is a multisystem disorder characterized by progressive manifestations, which is inherited in an autosomal dominant manner. The majority of patients with NF1 experience a diffuse, significant reduction in bone mass over time, with osteoporosis, osteopenia in the absence of severe scoliosis, or gross bone deformities. This study aimed to determine the bone mineral density (BMD) status, evaluate bone metabolism, and to determine the relevant factors in children with NF1...
February 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28099133/association-between-screen-time-and-snack-consumption-in-children-and-adolescents-the-caspian-iv-study
#19
Roya Kelishadi, Nafiseh Mozafarian, Mostafa Qorbani, Mohammad Reza Maracy, Mohammad Esmaeil Motlagh, Saeid Safiri, Gelayol Ardalan, Hamid Asayesh, Fatemeh Rezaei, Ramin Heshmat
BACKGROUND: The relationship between screen time (ST) and the frequency of snack consumption in a national sample of Iranian children and adolescents was assessed. The present nationwide survey was conducted on 14,880 school students living in urban and rural areas of 30 provinces in Iran. Trained healthcare providers conducted the physical examination and completed the questionnaire of the World Health Organization - Global School-Based Student Health Survey (WHO-GSHS). METHODS: The association between ST (total time spent watching TV and using a computer in leisure time) and the frequency of snack consumption was determined using ordinal logistic regression analysis...
February 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28099132/efficacy-of-long-term-growth-hormone-therapy-in-short-non-growth-hormone-deficient-children
#20
Lucia Schena, Cristina Meazza, Sara Pagani, Valeria Paganelli, Elena Bozzola, Carmine Tinelli, Fabio Buzi, Mauro Bozzola
BACKGROUND: In recent years, several studies have been published showing different responses to growth hormone (GH) treatment in idiopathic short stature children. The aim of the present study was to investigate whether non-growth-hormone-deficient (non-GHD) short children could benefit from long-term GH treatment as GHD patients. METHODS: We enrolled 22 prepubertal children and 22 age- and sex-matched GHD patients, with comparable height, body mass index (BMI), bone age, and insulin-like growth factor 1 (IGF-I) circulating levels...
February 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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