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Journal of Pediatric Endocrinology & Metabolism: JPEM

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https://www.readbyqxmd.com/read/30001213/molecular-genetics-of-tetrahydrobiopterin-deficiency-in-chinese-patients
#1
Nana Li, Ping Yu, Bin Rao, Ying Deng, Yixiong Guo, Yushan Huang, Lijie Ding, Jun Zhu, Huanming Yang, Jian Wang, Jian Guo, Fang Chen, Zhen Liu
Background The overall incidence of hyperphenylalaninemia (HPA) in China is 1:11,763, with tetrahydrobiopterin (BH4) deficiency accounting for 8.55% of patients with HPA in the mainland. Much progress has been made in the diagnosis and treatment of BH4 deficiency with the introduction of neonatal screening in China. However, the screening rate is still low and screening is not universally available. Methods A total of 44 BH4-deficient patients were enrolled in this study, of which 39 were diagnosed with BH4 deficiency, while the remaining five showed typical characteristics of BH4 deficiency at a later period...
July 12, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29995633/single-center-experience-of-biotinidase-deficiency-259-patients-and-six-novel-mutations
#2
Ebru Canda, Havva Yazici, Esra Er, Melis Kose, Gunes Basol, Huseyin Onay, Sema Kalkan Ucar, Sara Habif, Ferda Ozkinay, Mahmut Coker
Background Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling. It is classified into two levels based on the biotinidase enzyme activity: partial deficiency (10%-30% enzyme activity) and profound deficiency (0%-10% enzyme activity). The aims of this study were to evaluate our patients with BD, identify the spectrum of biotinidase (BTD) gene mutations in Turkish patients and to determine the clinical and laboratory findings of our patients and their follow-up period...
July 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29995632/sequential-measurements-of-igf-i-serum-concentrations-in-adolescents-with-laron-syndrome-treated-with-recombinant-human-igf-i-rhigf-i
#3
Thomas Breil, Carolin Kneppo, Markus Bettendorf, Hermann L Müller, Klaus Kapelari, Dirk Schnabel, Joachim Woelfle
Background Recombinant human insulin-like growth factor 1 (rhIGF-I) has been approved as an orphan drug for the treatment of growth failure in children and adolescents with severe primary IGF-I deficiency (SPIGFD) with little pharmacokinetic data available. Therefore, sequential measurements of serum IGF-I, glucose, potassium, insulin and cortisol were performed in patients treated with rhIGF-I to evaluate their significance in safety and efficacy. Methods Repetitive blood samples were taken after meals before and 30, 60, 120, 180 and 360 min after rhIGF-I injections in two male patients with Laron syndrome at times of dose adjustments...
July 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29982239/symptomatic-rathke-cleft-cyst-in-paediatric-patients-clinical-presentations-surgical-treatment-and-postoperative-outcomes-an-analysis-of-38-cases
#4
Monika Prokop-Piotrkowska, Elżbieta Moszczyńska, Paweł Daszkiewicz, Marcin Roszkowski, Mieczysław Szalecki
BACKGROUND: Rathke cleft cysts (RCC) are benign, epithelium-lined intrasellar and/or suprasellar cysts believed to originate from the remnants of the Rathke pouch. The aim of this study was to analyse the symptoms and surgical outcome of patients with the diagnosis of RCC verified in a histopathological examination of the postoperative material. METHODS: The study is a retrospective analysis of 38 cases of children who underwent a neurosurgical treatment due to RCC at the Children's Memorial Health Institute in Warsaw, Poland, between 1994 and 2015...
July 9, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29982238/three-new-brazilian-cases-of-17%C3%AE-hydroxylase-deficiency-clinical-molecular-hormonal-and-treatment-features
#5
Ikaro Soares Santos Breder, Heraldo Mendes Garmes, Tais Nitsch Mazzola, Andrea Trevas Maciel-Guerra, Maricilda Palandi de Mello, Gil Guerra-Júnior
BACKGROUND: Deficiency of 17α-hydroxylase (17OHD) is a rare form of adrenal hyperplasia. Diagnosis is generally delayed, impairing appropriate treatment. CASE PRESENTATION: Here, we report the clinical, molecular, hormonal, and treatment data of three unrelated 17OHD patients, aged 14-16 years with hypergonadotrophic hypogonadism; uncontrolled hypertension; primary adrenal insufficiency; and high progesterone, low to normal potassium, and low dehydroepiandrosterone, androstenedione, and testosterone levels...
July 9, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29975667/urinary-bisphenol-a-levels-in-children-with-type-1-diabetes-mellitus
#6
Tolga İnce, Aylin Balcı, Siddika Songül Yalçın, Gizem Özkemahlı, Pinar Erkekoglu, Belma Kocer-Gumusel, Kadriye Yurdakök
BACKGROUND: Bisphenol-A (BPA) is one of the most abundantly produced chemicals globally. Concerns have been raised about BPA's possible role in the pathogenesis of type 1 diabetes mellitus (T1DM). The main aim of the current study was to evaluate the possible association between BPA exposure and T1DM. The second aim was to investigate children's possible BPA exposure routes in Turkey. METHODS: A total of 100 children aged between 5 and 18 years including 50 children with T1DM and 50 healthy children were included...
July 5, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29975666/the-relationship-between-metabolic-syndrome-cytokines-and-physical-activity-in-obese-youth-with-and-without-prader-willi-syndrome
#7
Kelsey L McAlister, Koren L Fisher, Marilyn C Dumont-Driscoll, Daniela A Rubin
BACKGROUND: The objective of this study was to examine the associations between adiposity, metabolic syndrome (MetS), cytokines and moderate-to-vigorous physical activity (MVPA) in youth with Prader-Willi syndrome (PWS) and non-syndromic obesity (OB). METHODS: Twenty-one youth with PWS and 34 with OB aged 8-15 years participated. Measurements included body composition, blood pressure, fasting blood markers for glucose control, lipids and inflammation and MVPA. Group differences for adiposity, MetS, blood parameters and MVPA were determined using independent t-tests and chi-square (χ2) analyses...
July 5, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29958183/diazoxide-toxicity-in-a-child-with-persistent-hyperinsulinemic-hypoglycemia-of-infancy-mixed-hyperglycemic-hyperosmolar-coma-and-ketoacidosis
#8
Pragya Mangla, Khalid Hussain, Sian Ellard, Sarah E Flanagan, Vijayalakshmi Bhatia
BACKGROUND: Persistent hyperinsulinemic hypoglycemia of infancy (PHHI), also known as congenital hyperinsulinism, has been known to go into spontaneous remission, with patients developing diabetes in later life. A temporary phase of hyperglycemia is, however, rarely reported. CASE PRESENTATION: We describe a 16-month-old child, a known case of diazoxide responsive PHHI, presenting with mixed hyperglycemic hyperosmolar coma and ketoacidosis with rhabdomyolysis while on diazoxide treatment...
June 29, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29953412/self-assessment-of-pubertal-development-in-a-puberty-cohort
#9
Andreas Ernst, Lea Lykke B Lauridsen, Nis Brix, Camilla Kjersgaard, Jørn Olsen, Erik T Parner, Niels Clausen, Lars Henning Olsen, Cecilia H Ramlau-Hansen
BACKGROUND: We evaluated the inter-rater agreement between self-assessed Tanner staging and clinical examination and the intra-individual agreement of self-assessed information on various puberty markers in late adolescents from the longitudinal nationwide Puberty Cohort, a sub-cohort of the Danish National Birth Cohort (DNBC). METHODS: We invited 715 children from the ongoing Puberty Cohort between June 2016 and January 2017. In total, 366 children (51%) returned an add-on questionnaire identical to the questionnaire used to collect information on puberty markers, including Tanner staging, in the Puberty Cohort...
June 28, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29953410/detection-of-distant-metastasis-at-the-time-of-ablation-in-children-with-differentiated-thyroid-cancer-the-value-of-pre-ablation-stimulated-thyroglobulin
#10
Lina Liu, Fang Huang, Bin Liu, Rui Huang
BACKGROUND: The present study was designed to determine the value of pre-ablation stimulated thyroglobulin (s-Tg) in predicting distant metastasis (DM) at the time of ablation in children with differentiated thyroid cancer. METHODS: From August 2009 to December 2016, consecutive children with differentiated thyroid cancer undergoing remnant ablation were retrospectively analyzed. Serum s-Tg was measured with the high-sensitive electrochemiluminescence immunoassay during hypothyroidism at ablation just before the ablative radioactive iodine (131I) administration...
June 28, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29953409/severe-consumptive-hypothyroidism-caused-by-multiple-infantile-hepatic-haemangiomas
#11
Enver Simsek, Meliha Demiral, Elif Gundoğdu
BACKGROUND: Infantile hepatic haemangiomas (IHHs) produce an excess of the thyroid hormone inactivating enzyme type-3 iodothyronine deiodinase (D3), leading to rapid degradation of thyroid hormones and consumptive hypothyroidism. The L-thyroxine replacement dose in patients with consumptive hypothyroidism is inappropriately higher than that in congenital hypothyroidism. CASE PRESENTATION: A 4-month-old boy presented with abdominal distention. Thyroid function tests (TFTs) revealed an elevated thyroid-stimulating hormone (TSH) level of 177 mU/L, normal free thyroxine (fT4) of 1...
June 28, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29953408/random-serum-free-cortisol-and-total-cortisol-measurements-in-pediatric-septic-shock
#12
Kusum Menon, Dayre McNally, Anand Acharya, Katharine O'Hearn, Karen Choong, Hector R Wong, Lauralyn McIntyre, Margaret Lawson
BACKGROUND: The aim of the study was to examine the relationship between serum total cortisol (TC) and free cortisol (FC) levels in children with septic shock and the relationship of these levels with baseline illness severity. METHODS: A sub-study of a randomized controlled trial (RCT) of hydrocortisone vs. placebo in pediatric septic shock conducted in seven academic pediatric intensive care units (PICUs) in Canada on children aged newborn to 17 years. Thirty children with septic shock had serum sent for TC and FC measurement within 6 h of meeting the study eligibility criteria...
June 28, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29953407/evaluation-of-mn-superoxide-dismutase-and-catalase-gene-expression-in-childhood-obesity-its-association-with-insulin-resistance
#13
Roohollah Mohseni, Zahra Arab Sadeghabadi, Mohammad Taghi Goodarzi, Maryam Teimouri, Mitra Nourbakhsh, Maryam Razzaghy Azar
BACKGROUND: Obesity is associated with oxidative stress. Superoxide dismutase (SOD) is the first line of defense against reactive oxygen species (ROS), eliminating the strong superoxide radical and producing H2O2, which can then be degraded by catalase (CAT). The main objective of this study was to evaluate the gene expression antioxidant enzymes (Mn-SOD and CAT) in peripheral blood mononuclear cells (PBMCs) of obese and normal-weight children, and its association with anthropometric and biochemical parameters...
June 28, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29949513/hereditary-1-25-dihydroxyvitamin-d-resistant-rickets-hvdrr-clinical-heterogeneity-and-long-term-efficacious-management-of-eight-patients-from-four-unrelated-arab-families-with-a-loss-of-function-vdr-mutation
#14
Muhammad Faiyaz-Ul-Haque, Waheeb AlDhalaan, Abdullah AlAshwal, Bassam S Bin-Abbas, Afaf AlSagheir, Maram Alotaiby, Zulqurnain Rafiq, Syed H E Zaidi
BACKGROUND: Vitamin D regulates the concentrations of calcium and phosphate in blood and promotes the growth and remodeling of bones. The circulating active form of vitamin D, 1,25-dihydroxyvitamin D, binds to the vitamin D receptor (VDR), which heterodimerizes with the retinoid X receptor to regulate the expression of target genes. Inactivating mutations in the VDR gene cause hereditary vitamin D-resistant rickets (HVDRR), a rare disorder characterized by an early onset of rickets, growth retardation, skeletal deformities, hypocalcemia, hypophosphatemia and secondary hyperparathyroidism, and in some cases alopecia...
June 27, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29949512/screening-for-autoimmune-thyroiditis-and-celiac-disease-in-minority-children-with-type-1-diabetes
#15
Elna Kochummen, Albara Marwa, Vatcharapan Umpaichitra, Sheila Perez-Colon, Vivian L Chin
BACKGROUND: Hashimoto's thyroiditis (HT) and celiac disease (CD) are commonly associated with type 1 diabetes (T1DM). There is no consensus on screening, however, the American Diabetes Association (ADA) and the International Society for Pediatric and Adolescent Diabetes (ISPAD) recommend testing for thyroid function (TFT), thyroid antibodies and anti-tissue transglutaminase antibodies (TTG) IgA soon after diagnosis. TFT should be repeated every 1-2 years while TTG IgA should be tested for within 2 and 5 years...
June 27, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29935116/the-effect-of-obesity-and-insulin-resistance-on-macular-choroidal-thickness-in-a-pediatric-population-as-assessed-by-enhanced-depth-imaging-optical-coherence-tomography
#16
Pinar Topcu-Yilmaz, Nesibe Akyurek, Erkan Erdogan
BACKGROUND: The purpose of this study was to evaluate the macular choroidal thickness in obese children with and without insulin resistance (IR). METHODS: Thirty-six patients with obesity and 26 healthy volunteers were included in this cross-sectional study. The choroidal thickness was measured with enhanced depth imaging optical coherence tomography (EDI-OCT) at the fovea and at positions 500 μm, 1000 μm, 1500 μm nasal and temporal to the fovea. The choroidal thickness measurements of the groups were compared and the correlation between the homeostasis model assessment of insulin resistance (HOMA-IR) and choroidal thickness values was evaluated...
June 23, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29935115/thyroid-storm-after-choking
#17
Ana L Creo, Bryan C Cannon, Siobhan T Pittock
BACKGROUND: A thyroid storm (TS) is a rare, but life-threatening condition in hyperthyroid patients. Mortality in adult TS patients may be as high as 10%. Typically, a trigger precipitates the storm in hyperthyroid patients. CASE PRESENTATION: We report the case of an adolescent girl with untreated hyperthyroidism who developed fulminant TS after a significant choking episode. Initially, she was found to have neck swelling and tachycardia leading providers to suspect infection...
June 23, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29935114/long-term-thyroid-disorders-in-pediatric-survivors-of-hematopoietic-stem-cell-transplantation-after-chemotherapy-only-conditioning
#18
Luminita N Cima, Sorina C Martin, Ioana M Lambrescu, Lavinia Stejereanu, Cristina Zaharia, Anca Colita, Simona Fica
BACKGROUND: Thyroid dysfunction (TD) was usually described in hematopoietic stem cell transplantation (HSCT) recipients who were given total body irradiation (TBI) in the conditioning regimen. Because previous studies have reported discrepant results regarding the presence of long-term thyroid complications in HSCT survivors following chemotherapy-only conditioning, we investigated the frequency of thyroid abnormalities in a series of children treated with HSCT for different disorders without TBI as part of the conditioning protocol...
June 23, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29902156/hypertriglyceridemia-thalassemia-syndrome
#19
Mili Jain, Wahid Ali, Brijendra Bahadur Singh, Nishant Verma, Ashutosh Kumar
BACKGROUND: Hypertriglyceridemia thalassemia syndrome is a rare entity with an unknown pathogenetic link. CASE PRESENTATION: We report a case of an 8-month-old female with thalassemia major and increased triglyceride (TG) levels. The clinical features were as in classical thalassemia except for a white discoloration of the plasma. After exclusion of familial triglyceridemia and secondary causes (hypothyroidism, nephrotic syndrome, drugs etc.), a diagnosis of hypertriglyceridemia thalassemia syndrome was made...
June 14, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29902155/prevalence-of-cranial-mri-findings-in-girls-with-central-precocious-puberty-a-systematic-review-and-meta-analysis
#20
Sena Cantas-Orsdemir, Jane L Garb, Holley F Allen
CONTEXT: Some pediatric endocrinologists recommend that girls with central precocious puberty (CPP) have cranial magnetic resonance imaging (MRI) performed only if they are younger than 6 years of age. However, no practice guidelines exist. OBJECTIVE: To assess the frequency of intracranial lesions in girls with CPP. STUDY DESIGN: We searched six electronic databases (PubMed, Cochrane, Web of Science, SCOPUS, ProQuest, and Dissertation & Theses) from 1990 through December 2015...
June 14, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
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