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Thyroid children

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https://www.readbyqxmd.com/read/28526761/a-retrospective-chart-review-of-the-features-of-pten-hamartoma-tumour-syndrome-in-children
#1
Emily Hansen-Kiss, Sarah Beinkampen, Brent Adler, Thomas Frazier, Thomas Prior, Steven Erdman, Charis Eng, Gail Herman
OBJECTIVE: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the PTEN tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic PTEN mutation are unclear and have not been well documented. STUDY OBJECTIVES: We undertook a retrospective chart review of children (< 18  years) with pathogenic PTEN mutations to ascertain clinical findings, clinical course and possible outcomes...
May 19, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28526555/modeling-psychomotor-retardation-using-ipscs-from-mct8-deficient-patients-indicates-a-prominent-role-for-the-blood-brain-barrier
#2
Gad D Vatine, Abraham Al-Ahmad, Bianca K Barriga, Soshana Svendsen, Ariel Salim, Leslie Garcia, Veronica J Garcia, Ritchie Ho, Nur Yucer, Tongcheng Qian, Ryan G Lim, Jie Wu, Leslie M Thompson, Weston R Spivia, Zhaohui Chen, Jennifer Van Eyk, Sean P Palecek, Samuel Refetoff, Eric V Shusta, Clive N Svendsen
Inactivating mutations in the thyroid hormone (TH) transporter Monocarboxylate transporter 8 (MCT8) cause severe psychomotor retardation in children. Animal models do not reflect the biology of the human disease. Using patient-specific induced pluripotent stem cells (iPSCs), we generated MCT8-deficient neural cells that showed normal TH-dependent neuronal properties and maturation. However, the blood-brain barrier (BBB) controls TH entry into the brain, and reduced TH availability to neural cells could instead underlie the diseased phenotype...
May 8, 2017: Cell Stem Cell
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
#3
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 18, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28523891/neonatal-endocrinologic-problems-in-collodion-babies
#4
Ahmet Ozdemir, Sabriye Korkut, Selim Kurtoglu, Nihal Hatipoglu, Tamer Gunes, Mehmet Adnan Ozturk
OBJECTIVES: To identify endocrinologic problems, particularly those concerning growth, in collodion babies (CBs). METHODS: Clinically identified newborn CBs were included in the study group (group 1). Because CBs are generally born premature, small for gestational age (SGA), or both, a control group matched to the study group in terms of gestational age and birthweight (group 2) was also established. Blood specimens were collected from both groups for thyroid function tests and to measure serum growth hormone (GH), insulinlike growth factor 1 (IGF-1) and IGF binding protein-3 (IGFBP-3) levels...
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28521635/pathologic-characteristics-natural-history-and-prognostic-implications-of-braf-v600e-mutation-in-pediatric-papillary-thyroid-carcinoma
#5
Steven Hardee, Manju L Prasad, Pei Hui, Catherine A Dinauer, Raffaella A Morotti
The BRAF(V600E) mutation is the most common genetic aberration in papillary thyroid cancer (PTC), found in up to 68% of PTC in adults where it is associated with aggressive features. The incidence of this mutation in pediatric PTC is less frequent, reported as 0%-20% in the past and up to 63% in one recent series. Data suggest the mutation is not associated with an aggressive course in children; however, there are limited numbers of reported case series, so the prognostic implications remain poorly understood...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28521312/the-influence-of-the-manner-of-performing-the-thyroid-ultrasound-examination-on-the-reliability-of-the-assessment-of-the-thyroid-size-in-school-aged-children
#6
Arkadiusz Zygmunt, Zbigniew Adamczewski, Agnieszka Zygmunt, Malgorzata Karbownik-Lewinska, Andrzej Lewinski
BACKGROUND/AIMS: Goitre incidence in school-aged children evaluated using ultrasonography is one of the essential indicators of iodine intake in a given area. The aim of the study was to examine what the difference is between the volume of the thyroid gland measured in the supine and sitting position and to determine the intra-observer, inter-observer, and inter-position variations. METHODS: The survey was conducted among 87 children (56 girls and 31 boys aged 7-13 years, mean age 10...
May 18, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28516817/decreased-but-still-sufficient-iodine-intake-of-children-and-adults-in-the-netherlands
#7
Janneke Verkaik-Kloosterman, Elly J M Buurma-Rethans, Arnold L M Dekkers, Caroline T M van Rossum
Sufficient I intake is important for the synthesis of thyroid hormones, which play an important role in normal growth and development. Our aim was to estimate habitual I intake for the Dutch population and the risk of inadequate or excessive intakes. Further, we aimed to provide an insight into the dietary sources of I and the association with socio-demographic factors. Data from the Dutch National Food Consumption Survey 2007-2010 (n 3819; 7-69 years), and from the Dutch food and supplement composition tables were used to estimate habitual I intake with a calculation model...
May 18, 2017: British Journal of Nutrition
https://www.readbyqxmd.com/read/28514259/does-type-1-diabetes-mellitus-affect-the-shear-wave-velocity-of-the-thyroid-gland-of-children-without-autoimmune-thyroiditis
#8
Dilek Sağlam, Meltem Ceyhan Bilgici, Cengiz Kara, Gülay Can Yilmaz, Asli Tanrivermiş Sayit
OBJECTIVE: The aim of this study is to evaluate the shear wave velocity (SWV) of the thyroid gland with acoustic radiation force impulse elastography in children with type 1 diabetes mellitus (T1D). MATERIALS AND METHODS: Between November 2015 and April 2016, 35 T1D patients who were referred to our hospital's endocrinology outpatient clinic (mean age, 11.88 ± 4.1 years) and 30 children (mean age, 11.3 ± 3.08 years) in the control group were enrolled in the study...
May 16, 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/28514192/diagnostic-and-treatment-patterns-among-children-adolescents-and-young-adults-with-thyroid-cancer-in-ontario-1992-2010
#9
Jason D Pole, Aleksandra M Zuk, Jonathan Daniel Wasserman
BACKGROUND: Thyroid carcinoma (TC) is rare in young children, with a sharp increase in incidence among adolescents and young adults (AYA), between 15 and 29 years of age. The incidence of TC is increasing worldwide. Limited prospective population-based data are available to describe diagnostic and treatment practices in this age group. This study undertook a population-based review of TC among 0 to 29-year-old individuals in Ontario, Canada, utilizing linked administrative data to describe the demographic and care patterns over nearly two decades...
May 17, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28511580/deleterious-effects-from-occupational-exposure-to-ethylene-thiourea-in-pregnant-women
#10
Abby D Mutic, Brenda J Baker, Linda A McCauley
Human exposure to endocrine disrupting chemicals (EDCs) has become common as a result of widespread application of these chemicals to the food supply, environmental contamination, and occupational exposures (Caserta et al., 2011). However, relatively little is known about the effects of EDCs such as ethylene thiourea (ETU) in developing fetuses and the lasting implications of this disruption on human development from birth through adulthood. Of highest concern are chronic, low-dose exposures among industrial and agricultural workers...
May 1, 2017: Workplace Health & Safety
https://www.readbyqxmd.com/read/28508616/ultrasound-elastography-in-pediatric-congenital-hypothyroid-patients
#11
Mehmet Akif Sarıca, Tahir Dalkıran, Mehmet Sait Menzilcioğlu, Mahmut Duymuş, Nursel Yurttutan
OBJECTIVES: Congenital hypothyroidism (CH) is most frequently encountered in newborns as an endocrine disorder characterized by thyroid hormone deficiency, and is one of the most common reasons for preventable mental retardation. This prospective study was designed to detect the pediatric occurrences of CH followed as euthyroid, with no anomalies detected via US on the gray scale, in comparison with a pediatric group with normal levels. METHODS: A total of 42 apparently healthy children with no thyroid disorder (Group 1) and 54 euthyroid CH (Group 2) using thyroid hormone were included in this study...
September 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28508608/myopathy-in-pediatric-thyroid-states-a-review-of-the-literature
#12
Elena Dingle, Resmy Palliyil-Gopi, Maria Contreras, Brenda Kohn, Preneet Cheema Brar
This review highlights the presentations of myopathy in children in both hypothyroid and hyperthyroid states with an emphasis on the pathophysiology, diagnosis and treatment. Based on our review of the literature data, myopathy should be considered in all children presenting with muscular weakness or altered muscle enzymes in the context of thyroid disease.
December 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28503348/emerging-trends-in-the-epidemiological-pattern-of-head-and-neck-cancers-in-lagos-nigeria
#13
O A Erinoso, E Okoturo, O M Gbotolorun, O A Effiom, N A Awolola, S S Soyemi, R T Oluwakuyide
BACKGROUND: Unfortunately, despite an increase in medical knowledge, survival rates of head and neck cancers (HNCs) have not been observed to improve greatly. This is true, especially in tumors located in obscure primary sites or late presentation. AIM: The purpose of this study is to assess the epidemiologic pattern of HNCs and to evaluate its emerging trends and patterns in Lagos state. SUBJECTS AND METHODS: A retrospective study was conducted from 2003 to 2013 that analyzed histologically diagnosed cases of HNC at the Pathology Departments of the two tertiary teaching hospitals in Lagos...
September 2016: Annals of Medical and Health Sciences Research
https://www.readbyqxmd.com/read/28502134/thyroid-dysfunctions-in-a-sample-of-egyptian-children-and-adolescents-with-systemic-lupus-erythematosus-relation-to-disease-activity-and-duration
#14
Hend H Abd-Elnabi, Mohamed A El-Gamasy, Maher A Abd-Elhafez
Systemic lupus erythematosus (SLE) is a chronic, autoimmune, inflammatory disease affects any organ of the body, including the thyroid gland. Both hypothyroidism and hyperthyroidism have been found in SLE patients more frequently than general population. The aim of this study was to evaluate the frequency of autoimmune thyroid dysfunctions in juvenile SLE and its relation to disease activity and duration. A prospective case-control study was carried on 40 children with juvenile SLE and 30 healthy as controls, all were subjected to measurement of serum TSH, Free T3, Free T4 and anti-TG by ELISA...
June 2016: Egyptian Journal of Immunology
https://www.readbyqxmd.com/read/28499444/a-french-national-breast-and-thyroid-cancer-screening-programme-for-survivors-of-childhood-adolescent-and-young-adult-caya-cancers-denacapst-programme
#15
Charlotte Demoor-Goldschmidt, Delphine Drui, Isabelle Doutriaux, Gérard Michel, Pascal Auquier, Agnès Dumas, Claire Berger, Valérie Bernier, Sandrine Bohrer, Pierre-Yves Bondiau, Bruno Filhon, Brice Fresneau, Claire Freycon, Dinu Stefan, Sylvie Helfre, Angela Jackson, Christine Kerr, Anne Laprie, Julie Leseur, Marc-André Mahé, Caroline Oudot, Claire Pluchard, Stéphanie Proust, Hélène Sudour-Bonnange, Céline Vigneron, Nathalie Lassau, Martin Schlumberger, Cécile Faure Conter, Florent de Vathaire
BACKGROUND: Survival of childhood, adolescent and young adult (CAYA) cancers has increased with progress in the management of the treatments and has reached more than 80% at 5 years. Nevertheless, these survivors are at great risk of second cancers and non-malignant co-morbidities in later life. DeNaCaPST is a non-interventional study whose aim is to organize a national screening for thyroid cancer and breast cancer in survivors of CAYA cancers. It will study the compliance with international recommendations, with the aim, regarding a breast screening programme, of offering for every woman living in France, at equal risk, an equal screening...
May 12, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28499365/investigation-of-dna-repair-related-snps-underlying-susceptibility-to-papillary-thyroid-carcinoma-reveals-mgmt-as-a-novel-candidate-gene-in-belarusian-children-exposed-to-radiation
#16
Christine Lonjou, Francesca Damiola, Monika Moissonnier, Geoffroy Durand, Irina Malakhova, Vladimir Masyakin, Florence Le Calvez-Kelm, Elisabeth Cardis, Graham Byrnes, Ausrele Kesminiene, Fabienne Lesueur
BACKGROUND: Genetic factors may influence an individual's sensitivity to ionising radiation and therefore modify his/her risk of developing papillary thyroid carcinoma (PTC). Previously, we reported that common single nucleotide polymorphisms (SNPs) within the DNA damage recognition gene ATM contribute to PTC risk in Belarusian children exposed to fallout from the Chernobyl power plant accident. Here we explored in the same population the contribution of a panel of DNA repair-related SNPs in genes acting downstream of ATM...
May 12, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28493804/hereditary-renal-cystic-disorders-imaging-of-the-kidneys-and-beyond
#17
Jonathan R Dillman, Andrew T Trout, Ethan A Smith, Alexander J Towbin
The purpose of this article is to review the hereditary renal cystic diseases that can manifest in children and adults, with specific attention to pathogenesis and imaging features. Various common and uncommon hereditary renal cystic diseases are reviewed in terms of their underlying etiology, including the involved genetic mutations and the affected proteins and cellular structures. Focus is placed on the morphologic findings in each condition and the features that distinguish one disorder from another. The two most common categories of hereditary renal cystic disease are (a) the ciliopathic disorders, which are related to mutations affecting the primary cilia (called "ciliopathies"), and (b) the phakomatoses...
May 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28489557/reduced-bone-mineral-density-in-chinese-children-with-phenylketonuria
#18
Kundi Wang, Ming Shen, Honglei Li, Xiaowen Li, Chun He
BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive metabolic disorder. Dietary control of classic PKU needs restriction of natural proteins. The diet results in unbalanced nutrition, which might affect the physical development of the patients. Our aim was to evaluate bone mineral density (BMD) in children with PKU. METHODS: To investigate the BMD of children with PKU, 41 children with PKU and 64 healthy controls were recruited (all 3-4 years of age). Body weight and height, BMD, Phe blood levels, thyroid function, calcium, phosphorus, iron metabolism markers, and vitamin D3 were measured...
May 9, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28489513/thyroid-function-during-early-life-and-dental-development
#19
S Vucic, T I M Korevaar, B Dhamo, V W V Jaddoe, R P Peeters, E B Wolvius, E M Ongkosuwito
Children with low levels of thyroid hormones (hypothyroidism) have delayed tooth eruption, enamel hypoplasia, micrognathia, and anterior open bite, whereas children with hyperthyroidism may suffer from accelerated tooth eruption, maxillary, and mandibular osteoporosis. However, it is still unknown whether thyroid function variations within the normal or subclinical range also have an impact on hard dental tissues in healthy children. The objective of this study was, therefore, to investigate the association between thyroid function from the fetal period until early childhood and dental development at school age...
May 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28476228/molecular-genetics-of-thyroid-cancer-in-children-and-adolescents
#20
REVIEW
Andrew J Bauer
There has been a steady incorporation of powerful new molecular tools into the evaluation and management of thyroid nodules and thyroid cancer. With an increasing incidence of nodules and differentiated thyroid cancer (DTC) being diagnosed in children and adolescents, oncogene data are providing insight into the clinical differences between pediatric and adult patients with histologically similar DTC. However, additional investment and efforts are needed to define the genomic landscape for pediatric DTC with the goal of improving preoperative diagnostic accuracy as well as stratifying treatment in an effort to reduce complications of therapy...
June 2017: Endocrinology and Metabolism Clinics of North America
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