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Journal of Clinical Research in Pediatric Endocrinology

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https://www.readbyqxmd.com/read/29280746/congenital-hyperinsulinism-diagnosis-and-treatment-update
#1
Hüseyin Demirbilek, Khalid Hussain
Pancreatic β-cells are finely tuned to secrete insulin so that plasma glucose levels are maintained within a narrow physiological range (3.5-5.5 mmol/L). Hyperinsulinaemic hypoglycaemia (HH) is the inappropriate seretion of insulin in the presence of low plasma glucose levels and leads to severe and persistent hypoglycaemia in neonates and children. Mutations in 12 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, PGM1 and PMM2) that are involved in the regulation of insulin secretion from pancreatic β-cells have been described to be responsible for the underlying molecular mechanisms leading to congenital HH...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29280745/sex-assignment-in-conditions-affecting-sex-development
#2
Renata Markosyan, S Faisal Ahmed
The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of sex development (DSD), the natural history of conditions, as well as the short and long-term complications of these conditions themselves, together with the clinical interventions that are associated with these conditions. With this information, the DSD expert can be more confident when discussing options with the parents of the newborn infant...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29280744/update-on-the-genetics-of-idiopathic-hypogonadotropic-hypogonadism
#3
A Kemal Topaloğlu
Traditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating variants in more than 50 genes have been reported to cause IHH. These mutations are estimated to account for up to 50% of all apparently hereditary cases. Identification of further causative gene mutations is expected to be more feasible with the increasing use of whole exome/genome sequencing. Presence of more than one IHH-associated mutant gene in a given patient/pedigree (oligogenic inheritance) is seen in 10-20% of all IHH cases...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29280743/current-nomenclature-of-pseudohypoparathyroidism-inactivating-parathyroid-hormone-parathyroid-hormone-related-protein-signaling-disorder
#4
Serap Turan
Disorders related to parathyroid hormone (PTH) resistance and PTH signaling pathway impairment are historically classified under the term of pseudohypoparathyroidism (PHP). The disease was first described and named by Fuller Albright and colleagues in 1942. Albright hereditary osteodystrophy (AHO) is described as an associated clinical entity with PHP, characterized by brachydactyly, subcutaneous ossifications, round face, short stature and a stocky build. The classification of PHP is further divided into PHP-Ia, pseudo-PHP (pPHP), PHP-Ib, PHP-Ic and PHP-II according to the presence or absence of AHO, together with an in vivo response to exogenous PTH and the measurement of Gsα protein activity in peripheral erythrocyte membranes in vitro...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29280742/the-rationale-for-growth-hormone-therapy-in-children-with-short-stature
#5
Annalisa Deodati, Stefano Cianfarani
Growth hormone (GH) was first isolated from cadaver pituitary glands, requiring laborious and expensive collection of glands, followed by extraction and purification of the hormone. This limited supply restricted its use to children with severe GH deficiency who were treated with low dosages and suboptimal schedules. The development of recombinant DNA-derived GH, allowed the production of virtually unlimited amounts of GH, leading to the approval for therapy for a large number of childhood conditions characterized by non-GH deficient short stature...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29280740/latest-insights-on-the-etiology-and-management-of-primary-adrenal-insufficiency-in-children
#6
Tülay Güran
Primary adrenal insufficiency (PAI) is a heterogeneous group of clinical and genetic disorders characterized by an impaired production of cortisol and other steroid hormones by the adrenal cortex. Most of the causes of PAI in childhood are inherited and monogenic in origin and are associated with significant morbidity and mortality whenever the diagnosis and treatment is delayed. Therefore, early and accurate diagnosis would allow appropriate management for the patients and more accurate genetic counseling for the family...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29280737/a-critical-appraisal-of-the-effect-of-gonadotropin-releasing-hormon-analog-treatment-on-adult-height-of-girls-with-central-precocious-puberty
#7
Abdullah Bereket
Central precocious puberty (CPP) is a diagnosis that pediatric endocrinologists worldwide increasingly make in girls of age 6-8 years and is mostly idiopathic. Part of the reason for increasing referral and diagnosis is the perception among the doctors as well as the patients that treatment of CPP with long-acting gonadotropin-releasing hormon analogues (GnRHa) promote height of the child. Although, the timing and the tempo of puberty does influence statural growth and achieved adult height, the extent of this effect is variable depending on several factors and is modest in most cases...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29217500/peripheral-neuropathy-as-a-complication-of-diabetic-ketoacidosis-in-a-child-with-newly-diagnosed-diabetes-type-1-case-report
#8
Marta Baszyńska-Wilk, Marta Wysocka-Mincewicz, Anna Świercz, Jolanta Świderska, Magdalena Marszał, Mieczysław Szalecki
BACKGROUND: Neurological complications of diabetic ketoacidosis are considered to be very serious clinical problem. The most common complication is cerebral edema. However this group includes also less common syndromes such as ischemic or hemorrhagic stroke, cerebral venous and sinus thrombosis or very rare peripheral neuropathy. CASE REPORT: We present a case of 9-year old girl with new onset type 1 diabetes, diabetic ketoacidosis, cerebral edema, multifocal vasogenic brain lesions and lower limbs peripheral paresis...
December 8, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29217499/severe-early-onset-obesity-due-to-a-novel-missense-mutation-in-exon-3-of-leptin-gene-in-an-infant-from-northwest-india
#9
Devi Dayal, Keerthivasan Seetharaman, Inusha Panigrahi, Muthuvel Balasubramaniyan, Ashish Agarwal
Monogenic obesity caused by mutations in one of the several genes involved in the control of hunger and satiety is a rare cause of early-onset obesity (EOO). The most common of the single gene alterations affect the LEP gene resulting in congenital leptin deficiency that manifests as intense hyperphagia, EOO and severe obesity associated hormonal and metabolic alterations. Only eight mutations of LEP gene associated with congenital leptin deficiency in humans have been described. In this study, we report a novel homozygous missense mutation in exon 3 of the LEP gene (chr7:127894610;c...
December 8, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29217498/sirolimus-induced-hepatitis-in-two-cases-with-hyperinsulinemic-hypoglycemia
#10
Belma Haliloğlu, Heybet Tüzün, Sarah E Flanagan, Muhittin Çelik, Avni Kaya, Sian Ellard, Mehmet Nuri Özbek
BACKGROUND: Sirolimus has been described for the treatment of the diffuse form of congenital hyperinsulinism (CHI) unresponsive to diazoxide and octreotide without severe side effect. CASE REPORT: Two newborns with CHI due to homozygous ABCC8 gene mutations were started sirolimus due to unresponsive to medical treatment on day 21 and 17, and good response was observed. At follow-up, liver enzyme levels increased at 10 and 2 month of therapy in case 1 and 2, respectively (serum sirolimus level 1...
December 8, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29175807/obesity-is-a-strong-risk-factor-for-the-development-of-restless-legs-syndrome-and-poor-sleep-quality-in-children-and-adolescents
#11
Rıza Taner Baran, Müge Atar, Özgür Pirgon, Serkan Filiz, Meral Filiz
OBJECTIVE: Adult epidemiological studies have suggested that the rate of restless legs syndrome (RLS) in the general population may range from 5% to 15%. The aim of this study was to investigate the frequency of RLS in a community sample of obese adolescents aged 10-16 years and its association with sleep quality and health-related glucose metabolism markers. METHODS: The study group comprised 144 obese and overweight children aged 10-16 years [mean body mass index (BMI): 30...
November 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29175806/the-distribution-of-different-types-of-diabetes-in-childhood-a-single-center-experience
#12
Belma Haliloğlu, Saygın Abali, Fuat Buğrul, Enes Çelik, Serpil Baş, Zeynep Atay, Tülay Güran, Serap Turan, Abdullah Bereket
OBJECTIVE: Type 1 diabetes (T1D) is the most common cause of diabetes in childhood but type 2 diabetes (T2D) and maturity onset diabetes of the young (MODY) are emerging and noteworthy causes of diabetes in youths. The aim of the study is to determine the distribution, trends and clinical features of the different types of diabetes in childhood in a tertiary single-center. METHODS: Children and adolescents aged 0-18 years who were diagnosed "diabetes/persistent hyperglycemia" between January 1999 and December 2016, were reviewed...
November 24, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29280741/insulin-resistance-prediabetes-metabolic-syndrome-what-should-every-pediatrician-know
#13
Ahmad Ighbariya, Ram Weiss
The Metabolic syndrome describes a clustering of typical cardiovascular risk factors. The syndrome is also known as "Insulin Resistance syndrome" as a substantial part of the pathophysiology is driven by resistance to the metabolic effects of insulin. The major cause of insulin resistance in childhood is a typical lipid partitioning pattern characterized by increased deposition of lipids within insulin responsive tissues, such as the liver and skeletal muscle and within the viscera. This lipid deposition pattern is also associated with infiltration of intra-abdominal tissues with cells of the immune system, inducing systemic, low-grade inflammation typically observed in insulin resistant obese children and adolescents...
December 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29280739/novel-modulators-of-the-growth-hormone-insulin-like-growth-factor-axis-pregnancy-associated-plasma-protein-a2-and-stanniocalcin-2
#14
Masanobu Fujimoto, Vivian Hwa, Andrew Dauber
Growth hormone (GH) and its mediator, insulin-like growth factor-1 (IGF-1), play a critical role in human growth. In circulation, IGF-1 is found in a ternary complex with IGF binding proteins (IGFBPs) and acid labile subunit (ALS) but little attention has been paid to the regulation of IGF-1 bioavailability. Recently, pregnancy-associated plasma protein-A2 (PAPP-A2) and stanniocalcin-2 (STC2) were identified as novel modulators of IGF-I bioavailability. PAPP-A2 is a protease which cleaves IGFBP-3 and -5, while STC2 inhibits PAPP-A and PAPP-A2 activity...
December 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29280738/genetic-causes-of-rickets
#15
Sezer Acar, Korcan Demir, Yufei Shi
Rickets is a metabolic bone disease that develops as a result of inadequate mineralization of growing bone due to disruption of calcium, phosphorus and/or vitamin D metabolism. Nutritional rickets remains a significant child health problem in developing countries. In addition, several rare genetic causes of rickets have also been described, which can be divided into two groups. The first group consists of genetic disorders of vitamin D biosynthesis and action, such as vitamin D-dependent rickets type 1A (VDDR1A), vitamin D-dependent rickets type 1B (VDDR1B), vitamin D-dependent rickets type 2A (VDDR2A), and vitamin D-dependent rickets type 2B (VDDR2B)...
December 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28720552/autoimmune-limbic-encephalitis-associated-with-type-1-diabetes-mellitus
#16
Onur Akın, Aylin Kılınç Uğurlu, Emine Demet Akbaş, Esra Döğer, Yılmaz Akbaş, Aysun Bideci, Özge Yüce, Kıvılcım Gücüyener, Mahmut Orhun Çamurdan, Neşe Karabacak, Peyami Cinaz
No abstract text is available yet for this article.
December 15, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29082896/optimal-cut-off-points-of-fasting-and-post-glucose-stimulus-surrogates-of-insulin-resistance-as-predictors-of-metabolic-syndrome-in-adolescents-according-to-several-definitions
#17
Mónica Ivette Piña-Agüero, Aranza Zaldivar-Delgado, Alejandra Salas-Fernández, Azucena Martínez-Basila, Mariela Bernabe-García, Jorge Maldonado-Hernández
OBJECTIVE: The aim of this study was to determine optimal cut-off points of fasting and post-glucose stimulus surrogates of insulin resistance to predict metabolic syndrome in adolescents according to several definitions. METHODS: 155 adolescents living in Mexico City were enrolled during 2011 and 2012. Waist circumference and blood pressure were recorded. Subjects received an oral glucose load of 1.75g per kg up to a maximum dose of 75g. Blood samples were drawn at baseline and 120 minutes...
October 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29082895/time-trends-regional-variability-and-seasonality-regarding-the-incidence-of-type-1-diabetes-mellitus-in-romanian-children-aged-0-14-years-between-1996-and-2015
#18
Adrian Vlad, Viorel Serban, Anders Green, Soren Moller, Mihaela Vlad, Bogdan Timar, Alexandra Sima
OBJECTIVE: The incidence of type 1 diabetes mellitus in children is highly variable in the world. The aim of our study was to analyze the evolution of the incidence of childhood type 1 diabetes in Romania between 1996 and 2015, and to search for differences amongst age groups, gender, geographic regions and month of diagnosis. METHODS: All new cases of type 1 diabetes, aged <15 years, diagnosed by two independent sources, were included in the study. The statistical methods included modeling of the incidence rates, adjusting for age groups, sex, calendar year, geographic region and seasonality...
October 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29082894/a-study-of-the-relationship-between-cystatin-c-and-metabolic-bone-disease-in-preterm-infants
#19
Sabriye Korkut, Şeyma Memur, Hülya Halis, Osman Bastuğ, Levent Korkmaz, Ahmet Özdemir, Tamer Güneş, Mehmet Adnan Öztürk, Selim Kurtoğlu
OBJECTIVE: Cystatin C (CysC) is commonly used as a marker of renal failure. The aim of this study was to investigate serum CysC levels in osteopenia of prematurity (OP) and determine whether CysC could be safely used as a marker of renal insufficiency in infants with OP. METHODS: The study included 50 preterm infants (≤ 32 gestational weeks). Calcium (Ca), phosphorous (P), and alkaline phosphatase (ALP) serum levels were measured in postnatal week 9, and bone density was measured concurrently by quantitative ultrasonography...
October 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29082893/one-novel-2-43kb-deletion-and-one-single-nucleotide-mutation-of-the-insr-gene-in-a-chinese-neonate-with-rabson-mendenhall-syndrome
#20
Xiang Chen, Huijun Wang, Bingbing Wu, Xinran Dong, Bo Liu, Hongbo Chen, Yulan Lu, Wenhao Zhou, Lin Yang
Mutations in insulin receptor gene (INSR) are responsible for Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). These two diseases are both characterized as insulin resistance. A Chinese neonate suffering from glucose homeostasis, hyperinsulinemia, dry skin, heavy hair, elevated testosterone and growth retardation was recruited. To search for candidate point mutations, small insertions or deletions and copy number variants, 2742 inherited disease-gene panel sequencing was performed. One pathogenic mutation (c...
October 30, 2017: Journal of Clinical Research in Pediatric Endocrinology
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