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Journal of Pediatric Endocrinology & Metabolism: JPEM

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https://www.readbyqxmd.com/read/29127769/relation-between-circulating-oxidized-ldl-and-metabolic-syndrome-in-children-with-obesity-the-role-of-hypertriglyceridemic-waist-phenotype
#1
Valeria Calcaterra, Rachele De Giuseppe, Ginevra Biino, Melissa Mantelli, Sonia Marchini, Giulia Bendotti, Alexandra Madè, Maria Antonietta Avanzini, Chiara Montalbano, Gianguido Cossellu, Daniela Larizza, Hellas Cena
BACKGROUND: The association between oxidative stress (OS) and metabolic syndrome (MetS) has been reported in adults. We analyzed the relation between circulating oxidized low-density lipoproteins (Ox-LDL) and MetS in pediatric ages in order to define whether plasma Ox-LDL levels are correlated to obesity and whether oxidative damage, using serum Ox-LDL levels as a proxy, are associated with MetS. METHODS: We enrolled 178 children (11.8±2.6 years). On the basis of a body mass index (BMI) threshold, the subjects were classified as: normal weight BMI <75th percentile; overweight BMI 75-97th percentile; obese BMI >97th percentile...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29127768/diabetic-ketoacidosis-hyperuricemia-and-encephalopathy-intractable-to-regular-dose-insulin
#2
Jillian Gregory, Sonali Basu
BACKGROUND: Diabetic ketoacidosis (DKA) in children less than 1 year of age is a rare occurrence. Typical presentation includes a prodrome of weight loss and polyuria with subsequent presentation to medical care when acidosis becomes symptomatic. CASE PRESENTATION: We describe an unusual case of a previously healthy infant with a 3 days' history of constipation, presenting acutely with abdominal pain, lethargy, and dehydration. On initial evaluation, our patient had profound encephalopathy, with marked tachypnea and work of breathing...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29127767/marine-lenhart-syndrome-in-two-adolescents-including-one-with-thyroid-cancer-a-case-series-and-review-of-the-literature
#3
REVIEW
Animesh Sharma
BACKGROUND: The coexistence of functional thyroid nodules and Graves' disease (GD) is a rare condition known as Marine-Lenhart syndrome. Thyroid cancer has been described in several adults, but never in children, with Marine-Lenhart syndrome. This paper discusses the challenges in diagnosis and the unique management of this condition in children, in the context of extant literature. CONTENT: In this case report, two adolescent female patients with Marine-Lenhart syndrome, aged 15 and 16 years, exhibited biochemical evidence of hyperthyroidism, and were found to have unilateral hyperfunctioning thyroid nodules via thyroid scintigraphy...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29127766/etiologies-of-short-stature-in-a-pediatric-endocrine-clinic-in-southern-thailand
#4
Tansit Saengkaew, Edward McNeil, Somchit Jaruratanasirikul
BACKGROUND: Short stature is one of the common disorders referred for investigation of an endocrine disorder. The etiologies of short stature vary and are commonly grouped into pathological and non-pathological disorders. The objective of the study was to determine the etiologies and describe the characteristics of short stature patients who attended the Pediatric Endocrinology Clinic and to compare factors between normal variant short stature (NVSS) and growth hormone deficiency (GHD)...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29127765/high-aldosterone-and-cortisol-levels-in-salt-wasting-congenital-adrenal-hyperplasia-a-clinical-conundrum
#5
Sirisha Kusuma Boddu, Sheeja Madhavan
BACKGROUND: Salt wasting syndrome (hyponatremia, hyperkalemia, dehydration, metabolic acidosis) in early infancy could be caused by either mineralocorticoid deficiency as in congenital adrenal hyperplasia (CAH) and adrenal insufficiency or mineralocorticoid resistance as in pseudohypoaldosteronism (PHA). In salt wasting CAH, serum aldosterone and cortisol levels are expected to be low. Cross reactivity between high levels of adrenal steroid precursors and aldosterone has recently been reported resulting in elevated aldosterone levels in CAH, leading to difficulty in differentiating between CAH and PHA...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29127764/could-a-combination-of-heterozygous-abcc8-and-kcnj11-mutations-cause-congenital-hyperinsulinism
#6
Klara Rozenkova, Azizun Nessa, Barbora Obermannova, Lenka Elblova, Petra Dusatkova, Zdenek Sumnik, Jan Lebl, Khalid Hussain, Stepanka Pruhova
BACKGROUND: Congenital hyperinsulinism (CHI) is frequently caused by mutations in one of the KATP channel subunits encoded by the genes ABCC8 and KCNJ11. The effect of simultaneous mutations in both of these genes on the pancreatic β-cell function is not known and patients with CHI carrying both ABCC8 and KCNJ11 mutations have not yet been reported. We questioned if a combination of heterozygous mutations in the ABCC8 and KCNJ11 genes could also lead to β-cell dysfunction presenting as CHI...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29127763/thyroid-evaluation-of-children-and-adolescents-with-williams-syndrome-in-zhejiang-province
#7
Wei-Jun Chen, Chai Ji, Dan Yao, Zheng-Yan Zhao
BACKGROUND: The objective of the study was to describe the prevalence of abnormal thyroid function and volume in children and adolescents with Williams syndrome (WS) in Zhejiang Province, China. METHODS: Thyroid function, including thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), free thyroxine (fT4), and thyroid antibodies (thyroid peroxidase and thyroglobulin) were measured in 83 patients with WS, aged 0.2-16.5 years. Twenty-three patients were followed for an average of 1...
November 11, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29087957/a-novel-dax-1-nr0b1-mutation-in-a-boy-with-x-linked-adrenal-hypoplasia-congenita
#8
Karine Gerster, Claudia Katschnig, Sascha Wyss, Anne Kolly, Patrick Sproll, Anna Biason-Lauber, Daniel Konrad
BACKGROUND: X-linked adrenal hypoplasia congenita (AHC) is caused by mutations in DAX-1 (NR0B1) playing a key role in adrenal and reproductive development. CASE PRESENTATION: Herein we report a 2.5-year-old boy who presented with acute adrenal failure. Family history revealed unexplained death in three brothers of the patient's mother during infancy. Molecular analysis of the DAX-1 gene revealed the presence of a novel hemizygous mutation, c.870C>A in exon 1, leading to the formation of a premature stop codon...
October 31, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29087958/high-attainment-of-optimal-nutritional-and-growth-status-observed-among-greek-pediatric-cystic-fibrosis-patients-results-from-the-greecf-study
#9
Dimitrios Poulimeneas, Argiri Petrocheilou, Maria G Grammatikopoulou, Athanasios G Kaditis, Ioanna Loukou, Stavros E Doudounakis, Dimitrios Laggas, Tonia Vassilakou
BACKGROUND: Pediatric cystic fibrosis (CF) patients suffer high rates of undernutrition, subject to several parameters. We aimed to assess growth and nutritional status of Greek children and adolescents with CF. METHODS: Eighty-four patients (35 boys) formed the sample. Anthropometrics and FEV1 were measured, growth and weight status were assessed. Body mass index (BMI), arm circumference (MUAC), fat (MUAFA) and muscle (MUAMA) were calculated. RESULTS: In the total sample, 6...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29040069/effects-of-1-year-growth-hormone-replacement-therapy-on-thyroid-volume-and-function-of-the-children-and-adolescents-with-idiopathic-growth-hormone-deficiency
#10
Meliksah Keskin, Elvan Bayramoglu, Zehra Aycan
BACKGROUND: There are different opinions about the effects of growth hormone replacement therapy (GHRT) on thyroid function and volume. This study aimed to assess the effects of GHRT on thyroid volume and function in the children and adolescents with growth hormone (GH) deficiency. METHODS: A total of 29 patients diagnosed with GH deficiency were enrolled in the study. The control group consisted of 29 cases matched for age, gender and pubertal period with the patients...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29040068/secular-trends-in-height-weight-and-body-mass-index-of-primary-school-children-in-turkey-between-1993-and-2016
#11
Seda Topçu, Filiz Şimşek Orhon, Betül Ulukol, Sevgi Başkan
BACKGROUND: The aim of the study was to analyze the secular trends in height, weight and body mass index (BMI) of children in a Turkish primary school in a 23-year time interval. METHODS: The height, weight and BMI of 1099 children between 7 and 15 years old were measured. Data were compared to those of children of the same ages from previous measurements carried out in 1993 (867 children) and in 2003 (1214 children) in the same school. The changes in weight, height and BMI were determined and analyzed statistically...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29040067/early-onset-severe-obesity-due-to-complete-deletion-of-the-leptin-gene-in-a-boy
#12
Elif Ozsu, Serdar Ceylaner, Huseyin Onay
BACKGROUND: Monogenic obesity results from single gene mutations. Extreme obesity starting at an early age, especially in infancy, which is associated with endocrinopathy and metabolic disturbances is key to the diagnosis of monogenic obesity. CASE PRESENTATION: A 6-month-old boy was admitted to our clinic with severe obesity and food craving. He was born with a birth weight of 3400 g to first-cousin parents. He started to gain weight at an abnormal rate at the age of 2 months...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29032371/reassessing-the-significance-of-the-pah-c-158g-a-p-arg53his-variant-in-patients-with-hyperphenylalaninemia
#13
Rihwa Choi, Jeongho Lee, Hyung-Doo Park, Jong Eun Park, Yong Hyuk Kim, Chang-Seok Ki, Soo-Youn Lee, Junghan Song, Jong-Won Kim, Dong Hwan Lee
BACKGROUND: The accurate interpretation of sequence variation is critical for successful molecular diagnoses. It is also fundamental to the accurate diagnosis and treatment of phenylketonuria (PKU). This study aims to evaluate the significance of the c.158G>A (p.Arg53His) variant in the PAH gene, which was previously reported to be a pathogenic mutation that results in decreased phenylalanine hydroxylase enzyme activity in hyperphenylalaninemia (HPA) patients. METHODS: Seven unrelated Korean patients with HPA genotyped with the c...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29016355/genetic-analysis-of-fructose-1-6-bisphosphatase-fbpase-deficiency-in-nine-consanguineous-pakistani-families
#14
Sadaqat Ijaz, Muhammad Yasir Zahoor, Muhammad Imran, Khushnooda Ramzan, Munir Ahmad Bhinder, Hussain Shakeel, Muhammad Iqbal, Asim Aslam, Wasim Shehzad, Huma Arshad Cheema, Habib Rehman
BACKGROUND: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited metabolic disorder characterized by recurrent episodes of hypoglycemia, ketosis and lactic acidosis. FBPase is encoded by FBP1 gene and catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose-6-phosphate in the last step of gluconeogenesis. We report here FBP1 mutations in nine consanguineous Pakistani families affected with FBPase deficiency. METHODS: Nine families having one or two individuals affected with FBPase deficiency were enrolled over a period of 3 years...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29016354/congenital-cataract-with-lss-gene-mutations-a-new-case-report
#15
Xiaodan Chen, Li Liu
BACKGROUND: Congenital cataract is one of the major causes of blindness and amblyopia in children. About one-third of the cases are inherited. CASE PRESENTATION: We applied whole exome sequencing for a pediatric patient with congenital cataract, small penis, baldness and absence of eyebrows and detected a compound heterozygous mutation in the lanosterol synthase (LSS) gene. These two mutations were inherited from the patient's parents. Both mutations altered the amino acid coding, at highly conserved amino acid residues...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29016353/markers-influencing-the-presence-of-partial-clinical-remission-in-patients-with-newly-diagnosed-type-1-diabetes
#16
Aleksandra Pyziak, Agnieszka Zmyslowska, Katarzyna Bobeff, Beata Malachowska, Wojciech Fendler, Krystyna Wyka, Anna Baranowska-Jazwiecka, Malgorzata Szymanska, Agnieszka Szadkowska, Wojciech Mlynarski
BACKGROUND: The aim of the study was to compare the selected markers in children with and without partial clinical remission (CR) of newly diagnosed type 1 diabetes (T1D). METHODS: The study group consisted of 186 patients (F/M; 87/99) at onset of T1D and 24 months of follow-up. Partial CR was defined as insulin requirement <0.5 IU/kg and glycated hemoglobin (HbA1c) <7%. RESULTS: Partial CR was observed in 115/186 (61.83%) of patients...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28988228/the-relationship-between-non-alcoholic-fatty-liver-disease-and-small-intestinal-bacterial-overgrowth-among-overweight-and-obese-children-and-adolescents
#17
Oana Belei, Laura Olariu, Andreea Dobrescu, Tamara Marcovici, Otilia Marginean
BACKGROUND: The increasing rate of obesity and overweight among children has highlighted nonalcoholic fatty liver disease (NAFLD) as the most common cause of chronic pediatric liver diseases. There are many publications supporting the idea that gut microbiota is altered in NAFLD. The aim of this study was to evaluate the prevalence of NAFLD among overweight and obese children with and without small intestinal bacterial overgrowth (SIBO) compared to a control group and to assess if intestinal dysbiosis represents a risk factor for NAFLD...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28988227/thyroid-hormone-levels-in-late-preterm-early-term-and-term-infants-a-study-with-healthy-neonates-revealing-reference-values-and-factors-affecting-thyroid-hormones
#18
Ozge Nur Aktas, Tugba Gursoy, Elif Soysal, Ecem Esencan, Secil Ercin
BACKGROUND: Thyroid function tests in neonates have been challenging to interpret because their levels are affected by several neonatal and delivery-related factors. The aim of the study was to evaluate reference values of thyroxine (T4) and thyrotropin (TSH) levels in different gestational age groups and to demonstrate the affect of perinatal factors on thyroid hormones. METHODS: Medical records of 7616 neonates whose gestational age ranges between 34 and 42 weeks were analyzed retrospectively...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28988226/severe-complications-after-initial-management-of-hyperglycemic-hyperosmolar-syndrome-and-diabetic-ketoacidosis-with-a-standard-diabetic-ketoacidosis-protocol
#19
Bimota Nambam, Emily Menefee, Neslihan Gungor, Robert Mcvie
Hyperglycemic hyperosmolar syndrome (HHS) is a clinical entity not identical to diabetic ketoacidosis (DKA), and with a markedly higher mortality. Children with HHS can also present with concomitant DKA. Patients with HHS (with or without DKA) are profoundly dehydrated but often receive inadequate fluid resuscitation as well as intravenous insulin therapy based on traditional DKA protocols, and this can lead to devastating consequences. In this article, we briefly review HHS along with a report of an adolescent who presented with HHS and DKA and was initially managed as DKA...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28988225/persistent-de-quervain-tenosynovitis-induced-by-somatotropin-treatment
#20
Ozan Volkan Yurdakul, Lütfiye Aytüre, Ebru Yilmaz Yalçinkaya
BACKGROUND: Growth hormone deficiency is a well-known clinical entity that is usually treated with somatotropin (growth hormone). Growth hormone has some frequent side effects such as intracranial hypertension, lymphedema and diabetes mellitus. CASE PRESENTATION: We report the case of a 14-year-old girl with a history of wrist pain and clumsiness. Magnetic resonance imaging revealed de Quervain tenosynovitis. The patient had a history of using growth hormones for 12 months...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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