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https://www.readbyqxmd.com/read/28935367/from-symptom-to-diagnosis-the-prediagnostic-symptomatic-interval-of-pediatric-central-nervous-system-tumors-in-austria
#1
Amedeo A Azizi, Kirsten Heßler, Ulrike Leiss, Chryssa Grylli, Monika Chocholous, Andreas Peyrl, Johannes Gojo, Irene Slavc
BACKGROUND: Children with central nervous system (CNS) tumours may present with a multitude of symptoms, ranging from elevated intracranial pressure to focal neurological deficit. In everyday practice, some signs may be misleading, thereby causing prolonged prediagnostic symptomatic intervals. Prediagnostic symptomatic intervals are longer for pediatric brain tumors than for other childhood malignancies. This study evaluated prediagnostic symptomatic intervals and parental and diagnostic intervals for pediatric patients with CNS tumours in Austria...
August 18, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#2
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
September 15, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28911724/radioactive-iodine-rai-therapy-for-metastatic-differentiated-thyroid-cancer
#3
REVIEW
Frederik A Verburg, Heribert Hänscheid, Markus Luster
Differentiated thyroid cancer (DTC) is the most common endocrine malignancy. It usually has a comparatively benign course. If properly executed, radioiodine therapy can provide an effective treatment of even advanced, metastatic DTC. A major problem in determining the right RAI for a patient with metastatic disease is a comparative lack of evidence. There are no reports on randomized controlled trials in this patient group which can aid us in determining which way to treat which patient. Few non-randomized prospective observational studies have been performed...
June 2017: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28888814/primary-and-secondary-enuresis-pathophysiology-diagnosis-and-treatment
#4
REVIEW
Bernhard Haid, Serdar Tekgül
CONTEXT: Enuresis is a common and possibly underestimated condition. While 5-10% of school-aged children suffer from the condition, a lack of background knowledge may impede timely child-adapted and successful therapy. OBJECTIVE: To provide a comprehensive overview of the pathophysiology, diagnosis, and treatment of enuresis. EVIDENCE ACQUISITION: Guideline and position papers from the European Society of Pediatric Urology, the European Association of Urology, and the International Children's Continence Society were acquired...
September 6, 2017: European Urology Focus
https://www.readbyqxmd.com/read/28888223/assessment-of-transition-readiness-in-adolescents-and-young-adults-with-chronic-health-conditions
#5
Paul T Jensen, Gabrielle V Paul, Stephanie LaCount, Juan Peng, Charles H Spencer, Gloria C Higgins, Brendan Boyle, Manmohan Kamboj, Christopher Smallwood, Stacy P Ardoin
BACKGROUND: Transition from pediatric to adult health care is a vulnerable period for adolescents and young adults. Challenges include paucity of validated measures to assess patients' transition readiness. We evaluated the Transition Readiness Assessment Questionnaire (TRAQ) in adolescents and young adults with rheumatic, gastrointestinal, and endocrine disorders. We examined whether baseline TRAQ scores and other demographic variables predicted transition to adult care over a three year follow up period...
September 9, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28873390/gastrointestinal-hormones-induced-the-birth-of-endocrinology
#6
Martin Wabitsch
The physiological studies by British physiologists William Maddock Bayliss and Ernest Henry Starling, at the beginning of the last century, demonstrated the existence of specific messenger molecules (hormones) circulating in the blood that regulate the organ function and physiological mechanisms. These findings led to the concept of endocrinology. The first 2 hormones were secretin, discovered in 1902, and gastrin, discovered in 1905. Both hormones that have been described are produced in the gut. This chapter summarizes the history around the discovery of these 2 hormones, which is perceived as the birth of endocrinology...
2017: Endocrine Development
https://www.readbyqxmd.com/read/28853514/-effect-of-maternal-health-and-prenatal-environmental-exposure-factors-on-tooth-development
#7
Wan Mian, Zhou Xuedong, Zheng Liwei
Odontogenesis is a consequence of a complex series of reciprocal signal interactions between odontogenic epithelium and neural crest-derived odontotgenic mesenchyme. These interactions result from a complex interplay of genetic and environmental factors. Given that a fetus develops in the mother, maternal health and environmental exposures have a great influence on tooth development. In this review, we focused on the key issues in the developmental defects of teeth induced by various types of maternal environmental factors, including environmental endocrine disruptors, joint action of two or more chemical exposures, and maternal health status...
August 1, 2017: Hua Xi Kou Qiang Yi Xue za Zhi, Huaxi Kouqiang Yixue Zazhi, West China Journal of Stomatology
https://www.readbyqxmd.com/read/28838874/youtcomes-following-endoscopic-endonasal-resection-of-craniopharyngiomas-in-the-pediatric-population
#8
Vishal S Patel, Andrew Thamboo, Jennifer Quon, Jayakar V Nayak, Peter H Hwang, Michael Edwards, Zara M Patel
BACKGROUND: Craniopharyngiomas have traditionally been treated via open, transcranial approaches. More recently, endoscopic, transsphenoidal approaches have been increasingly utilized; however very few case-series exist in the pediatric population. METHODS: A retrospective review of patients (<18 years) undergoing endoscopic transsphenoidal resection of craniopharyngiomas between 1995 and 2016 was performed. Preoperative data included presenting symptoms, tumor size, location, and components...
August 21, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28820733/pubertal-assessment-targeted-educational-intervention-for-pediatric-trainees
#9
Aditi Khokhar, Sairaman Nagarajan, Yagnaram Ravichandran, Sheila Perez-Colon
Background Timely and periodic pubertal assessment in children is vital to identify puberty related disorders. Pediatricians need to have working knowledge of puberty time and tempo. Pediatric residency is an important platform to acquire physical examination skills including pubertal assessment. Objective An educational intervention for teaching pubertal assessment was piloted on pediatric residents at our institution. Methods The intervention comprised of interactive lecture series, ID badge size Tanner stage cards and Tanner posters placed in residents' continuity clinics...
August 18, 2017: International Journal of Adolescent Medicine and Health
https://www.readbyqxmd.com/read/28757413/restoration-of-mir-30a-expression-inhibits-growth-tumorigenicity-of-medulloblastoma-cells-accompanied-by-autophagy-inhibition
#10
Satishkumar Vishram Singh, Aditi Nigam Dakhole, Akash Deogharkar, Sadaf Kazi, Rohan Kshirsagar, Atul Goel, Aliasgar Moiyadi, Rakesh Jalali, Epari Sridhar, Tejpal Gupta, Prakash Shetty, Nikhil Gadewal, Neelam Vishwanath Shirsat
Medulloblastoma is a highly malignant pediatric brain tumor. About 30% patients have metastasis at diagnosis and respond poorly to treatment. Those that survive, suffer long term neurocognitive, endocrine and developmental defects due to the cytotoxic treatment to developing child brain. It is therefore necessary to develop targeted treatment strategies based on underlying biology for effective treatment of medulloblastoma with minimal side effects. Medulloblastomas are believed to be the result of deregulated nervous system development as evident from the role of WNT and SHH developmental signaling pathways in pathogenesis of medulloblastomas...
July 27, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28755589/children-s-environmental-health-based-on-birth-cohort-studies-of-asia
#11
Meng-Shan Tsai, Mei-Huei Chen, Ching-Chun Lin, Sharon Ng, Chia-Jung Hsieh, Chen-Yu Liu, Wu-Shiun Hsieh, Pau-Chung Chen
Numerous studies have explored the associations between environmental pollutants and pediatric health. Recent studies have investigated the issue in Asia, but no systematic review has been published to date. This study aims to elucidate the issue by summarizing relevant epidemiologic evidence for cohorts in Asia, using information from the Birth Cohort Consortium of Asia (BiCCA). Environmental pollutants include mercury, environmental tobacco smoke (ETS), polychlorinated biphenyls (PCB), perfluoroalkyl substances (PFAS) and phthalates...
December 31, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28752085/review-of-pediatric-pheochromocytoma-and-paraganglioma
#12
REVIEW
Reshma Bholah, Timothy Edward Bunchman
Pheochromocytoma (PCC) and paraganglioma (PGL) are rare chromaffin cell tumors which secrete catecholamines and form part of the family of neuroendocrine tumors. Although a rare cause of secondary hypertension in pediatrics, the presentation of hypertension in these patients is characteristic, and treatment is definitive. The gold standard for diagnosis is via measurement of plasma free metanephrines, with imaging studies performed for localization, identification of metastatic lesions and for surgical resection...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28729012/evidence-that-children-born-at-early-term-37-38-6-7-weeks-are-at-increased-risk-for-diabetes-and-obesity-related-disorders
#13
Dorit Paz Levy, Eyal Sheiner, Tamar Wainstock, Ruslan Sergienko, Daniella Landau, Asnat Walfisch
BACKGROUND: Prematurity is known to be associated with high rates of endocrine and metabolic complications in the offspring. Offspring born early term (37-38 6/7 weeks' gestation) were also shown to exhibit long-term morbidity resembling that of late preterm, in several health categories. OBJECTIVE: We aimed to determine whether early term delivery impacts on the long-term endocrine and metabolic health of the offspring. STUDY DESIGN: A population-based cohort analysis was performed, including all term singleton deliveries occurring from 1991 through 2013 at a single regional tertiary medical center...
July 18, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28723610/pediatric-reference-intervals-for-29-ortho-vitros-5600-immunoassays-using-the-caliper-cohort-of-healthy-children-and-adolescents
#14
Victoria Higgins, Angela W S Fung, Man Khun Chan, Joseph Macri, Khosrow Adeli
BACKGROUND: Accurate reference intervals (RIs) based on a healthy pediatric population are essential for pediatric test result interpretation. The CALIPER project has recruited a large healthy cohort and completed a series of a priori studies to address gaps in pediatric RIs. As immunoassays from different manufacturers for endocrine and special chemistry markers are not standardized and show marked intermethod differences, direct RI studies are needed for each major analytical platform...
July 19, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28720594/impact-of-transition-on-quality-of-life-in-patients-with-congenital-adrenal-hyperplasia-diagnosed-during-childhood
#15
Anne Bachelot, Magaly Vialon, Amandine Baptiste, Isabelle Tejedor, Caroline Elie, Michel Polak, Philippe Touraine
BACKGROUND: Health-related quality of life (QoL) in adult patients with congenital adrenal hyperplasia (CAH) has been variously reported. However, there is no study evaluating the impact of transition on quality of life. METHODS: Adult patients with classic or non-classic CAH diagnosed during childhood CAH, born between 1970 and 1990, were recruited from the registers of Pediatric departments belonging to the French reference center for endocrine rare disease. Primary end point was the quality of life (WHOQoL -BREF)...
July 18, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28719390/total-pancreatectomy-with-islet-autotransplantation-recent-updates-and-outcomes
#16
Yoshitaro Shindo, Mazhar A Kanak
PURPOSE OF REVIEW: Total pancreatectomy with islet autotransplantation (TPIAT) is a reliable therapy to retain endocrine function, to alleviate pain and improve quality of life in adult and pediatric patients suffering from refractory chronic pancreatitis and recurrent acute pancreatitis. Recently, an expansion of indications to include benign and malignant pancreatic disease has been suggested. Improved methods for evaluating the functional quality of islets and predicting transplant outcome have been discussed...
October 2017: Current Opinion in Organ Transplantation
https://www.readbyqxmd.com/read/28705803/clinical-practice-guidelines-for-the-care-of-girls-and-women-with-turner-syndrome-proceedings-from-the-2016-cincinnati-international-turner-syndrome-meeting
#17
REVIEW
Claus H Gravholt, Niels H Andersen, Gerard S Conway, Olaf M Dekkers, Mitchell E Geffner, Karen O Klein, Angela E Lin, Nelly Mauras, Charmian A Quigley, Karen Rubin, David E Sandberg, Theo C J Sas, Michael Silberbach, Viveca Söderström-Anttila, Kirstine Stochholm, Janielle A van Alfen-van derVelden, Joachim Woelfle, Philippe F Backeljauw
Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016...
September 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28693116/long-term-follow-up-of-a-child-with-klinefelter-syndrome-and-achondroplasia-from-infancy-to-16-years
#18
Jessica D Arditi, Loretta Thomaidis, Helen Frysira, Artemis Doulgeraki, George P Chrousos, Christina Kanaka-Gantenbein
BACKGROUND: Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international literature. However, none of these cases has been longitudinally followed during the entire childhood...
June 23, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28690986/next-generation-sequencing-and-array-based-comparative-genomic-hybridization-for-molecular-diagnosis-of-pediatric-endocrine-disorders
#19
REVIEW
Maki Fukami, Mami Miyado
Next-generation sequencing (NGS) and array-based comparative genomic hybridization (array CGH) have enabled us to perform high-throughput mutation screening and genome-wide copy number analysis, respectively. These methods can be used for molecular diagnosis of pediatric endocrine disorders. NGS has determined the frequency and phenotypic variation of mutations in several disease-associated genes. Furthermore, whole exome analysis using NGS has successfully identified several novel causative genes for endocrine disorders...
June 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28674121/multiple-endocrine-neoplasia-and-hyperparathyroid-jaw-tumor-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#20
REVIEW
Jonathan D Wasserman, Gail E Tomlinson, Harriet Druker, Junne Kamihara, Wendy K Kohlmann, Christian P Kratz, Katherine L Nathanson, Kristian W Pajtler, Andreu Parareda, Surya P Rednam, Lisa J States, Anita Villani, Michael F Walsh, Kristin Zelley, Joshua D Schiffman
Children and adolescents who present with neuroendocrine tumors are at extremely high likelihood of having an underlying germline predisposition for the multiple endocrine neoplasia (MEN) syndromes, including MEN1, MEN2A and MEN2B, MEN4, and hyperparathyroid-jaw tumor (HPT-JT) syndromes. Each of these autosomal dominant syndromes results from a specific germline mutation in unique genes: MEN1 is due to pathogenic MEN1 variants (11q13), MEN2A and MEN2B are due to pathogenic RET variants (10q11.21), MEN4 is due to pathogenic CDKN1B variants (12p13...
July 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
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