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Pediatric endocrinology

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https://www.readbyqxmd.com/read/28940497/scrotal-hair-in-infancy-a-case-series
#1
Zeynep Uzan Tatlı, Ulku Gul, Nihal Hatipoglu, Selim Kurtoglu
Scrotal hair is a clinical condition that occurs rarely in infancy. Its prevalence is not known. We present a retrospective analysis of six patients referred to our pediatric endocrinology clinic. Except for scrotal hair development, all physical examinations were normal. Underlying pathologic hyperandrogenism was excluded in each case. Clinical regression was observed in all four infants with documented follow-up visits. Scrotal hair in infancy is not well known to most pediatricians and dermatologists and can cause parental anxiety...
September 21, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28940011/guidelines-for-the-diagnosis-and-management-of-critical-illness-related-corticosteroid-insufficiency-circi-in-critically-ill-patients-part-i-society-of-critical-care-medicine-sccm-and-european-society-of-intensive-care-medicine-esicm-2017
#2
Djillali Annane, Stephen M Pastores, Bram Rochwerg, Wiebke Arlt, Robert A Balk, Albertus Beishuizen, Josef Briegel, Joseph Carcillo, Mirjam Christ-Crain, Mark S Cooper, Paul E Marik, Gianfranco Umberto Meduri, Keith M Olsen, Sophia Rodgers, James A Russell, Greet Van den Berghe
OBJECTIVE: To update the 2008 consensus statements for the diagnosis and management of critical illness-related corticosteroid insufficiency (CIRCI) in adult and pediatric patients. PARTICIPANTS: A multispecialty task force of 16 international experts in Critical Care Medicine, endocrinology, and guideline methods, all of them members of the Society of Critical Care Medicine and/or the European Society of Intensive Care Medicine. DESIGN/METHODS: The recommendations were based on the summarized evidence from the 2008 document in addition to more recent findings from an updated systematic review of relevant studies from 2008 to 2017 and were formulated using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology...
September 21, 2017: Intensive Care Medicine
https://www.readbyqxmd.com/read/28938253/guidelines-for-the-diagnosis-and-management-of-critical-illness-related-corticosteroid-insufficiency-circi-in-critically-ill-patients-part-i-society-of-critical-care-medicine-sccm-and-european-society-of-intensive-care-medicine-esicm-2017
#3
Djillali Annane, Stephen M Pastores, Bram Rochwerg, Wiebke Arlt, Robert A Balk, Albertus Beishuizen, Josef Briegel, Joseph Carcillo, Mirjam Christ-Crain, Mark S Cooper, Paul E Marik, Gianfranco Umberto Meduri, Keith M Olsen, Sophia C Rodgers, James A Russell, Greet Van den Berghe
OBJECTIVE: To update the 2008 consensus statements for the diagnosis and management of critical illness-related corticosteroid insufficiency (CIRCI) in adult and pediatric patients. PARTICIPANTS: A multispecialty task force of 16 international experts in critical care medicine, endocrinology, and guideline methods, all of them members of the Society of Critical Care Medicine and/or the European Society of Intensive Care Medicine. DESIGN/METHODS: The recommendations were based on the summarized evidence from the 2008 document in addition to more recent findings from an updated systematic review of relevant studies from 2008 to 2017 and were formulated using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology...
September 21, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28917084/evaluation-of-neurodevelopment-of-children-with-congenital-hypothyroidism-by-the-denver-developmental-screening-test
#4
Ayşe Derya Buluş, Esra Tiftik
BACKGROUND: Thyroid hormones are essential for growth and brain development in childhood. Although congenital hypothyroidism (CH) is the most common reason for mental retardation, normal neurological development can be achieved through early and effective treatment. The aim of the present study was to evaluate the neurological development of CH patients aged 24-56 months. METHODS: The study included a total of 116 healthy control subjects and 112 patients aged 24-56 months who were diagnosed with CH during the neonatal period and were being followed up at the Pediatric Endocrinology Department, Keçiören Training and Research Hospital, between 2012 and 2015...
September 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28915908/advances-in-paediatrics-in-2016-current-practices-and-challenges-in-allergy-autoimmune-diseases-cardiology-endocrinology-gastroenterology-infectious-diseases-neonatology-nephrology-neurology-nutrition-pulmonology
#5
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Silvia Montella, Sergio Bernasconi
This review reports main progresses in various pediatric issues published in Italian Journal of Pediatrics and in international journals in 2016. New insights in clinical features or complications of several disorders may be useful for our better understanding. They comprise severe asthma, changing features of lupus erythematosus from birth to adolescence, celiac disease, functional gastrointestinal disorders, Moebius syndrome, recurrent pneumonia. Risk factors for congenital heart defects, Kawasaki disease have been widely investigated...
September 16, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28898878/development-of-laboratory-investigations-in-disorders-of-sex-development
#6
Laura Audí, Núria Camats, Mónica Fernández-Cancio, María L Granada
Scientific knowledge to understand the biological basis of sex development was prompted by the observation of variants different from the 2 most frequent body types, and this became one of the fields first studied by modern pediatric endocrinology. The clinical observation was supported by professionals working in different areas of laboratory sciences which led to the description of adrenal and gonadal steroidogenesis, the enzymes involved, and the different deficiencies. Steroid hormone measurements evolved from colorimetry to radioimmunoassay (RIA) and automated immunoassays, although gas and liquid chromatography coupled to mass spectrometry are now the gold standard techniques for steroid measurements...
September 13, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28885935/automated-bone-age-analysis-with-lossy-image-files
#7
Jordan E Pinsker, Michael S L Ching, Daniel P Chiles, Michael Lustik, C Becket Mahnke, Veronica J Rooks
BACKGROUND: In our U.S. Department of Defense hospital system, pediatric endocrinology and radiology resources to evaluate bone age radiographs are limited. Our tertiary care center provides expert specialty support to remotely stationed beneficiaries at more than 30 Department of Defense medical facilities using a well-established, asynchronous, Health Insurance Portability and Accountability Act compliant system that allows for physician-to-physician teleconsultation. Up to 14% of these teleconsultations are for endocrinology assessment, many of which include bone age analysis...
September 2017: Military Medicine
https://www.readbyqxmd.com/read/28873390/gastrointestinal-hormones-induced-the-birth-of-endocrinology
#8
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/28871805/acoustic-radiation-force-impulse-elastography-in-determining-the-effects-of-type-1-diabetes-on-pancreas-and-kidney-elasticity-in-children
#9
Dilek Sağlam, Meltem Ceyhan Bilgici, Cengiz Kara, Gülay Can Yılmaz, İlkay Çamlıdağ
OBJECTIVE: The aim of this study is to determine the effects of type 1 diabetes on pancreas and kidney elasticity in children, using acoustic radiation force impulse ultrasound elastography. SUBJECTS AND METHODS: Sixty autoantibody-positive patients with type 1 diabetes (45% girls; mean [± SD] age, 11.7 ± 4.4 years; range, 1.9-19.3 years) admitted to the pediatric endocrinology outpatient clinic and 32 healthy children (50% girls; mean age, 10.2 ± 3.8 years; range, 2...
September 5, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28861858/k-sarafoglou-g-f-hoffmann-k-s-roth-eds-pediatric-endocrinology-and-inborn-errors-of-metabolism-second-edition-mcgraw-hill-education-2017-isbn-978-0-07-177-314-0
#10
Manuel Schiff
No abstract text is available yet for this article.
August 31, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28854581/unexplained-recurrent-miscarriages-are-associated-with-an-aberrant-sperm-protamine-mrna-content
#11
Nina Rogenhofer, Johannes Ott, Adrian Pilatz, Julia Wolf, Christian J Thaler, Lisa Windischbauer, Undraga Schagdarsurengin, Klaus Steger, Viktoria von Schönfeldt
STUDY QUESTION: Are unexplained recurrent miscarriages associated with abnormal protamine-1 and protamine-2 mRNA levels in spermatozoa? SUMMARY ANSWER: Both protamine-1 and protamine-2 mRNA levels as well as the protamine-1 to protamine-2 mRNA ratio in spermatozoa from men whose female partners experienced two or more consecutive miscarriages were significantly different compared to those from both healthy control men and subfertile couples undergoing IVF/ICSI. WHAT IS KNOWN ALREADY: Aberrant sperm protamine ratios are known to be associated with male-factor infertility...
August 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28804205/clinical-practice-guidelines-for-congenital-hyperinsulinism
#12
Tohru Yorifuji, Reiko Horikawa, Tomonobu Hasegawa, Masanori Adachi, Shun Soneda, Masanori Minagawa, Shinobu Ida, Takeo Yonekura, Yoshiaki Kinoshita, Yutaka Kanamori, Hiroaki Kitagawa, Masato Shinkai, Hideyuki Sasaki, Masaki Nio
Congenital hyperinsulinism is a rare condition, and following recent advances in diagnosis and treatment, it was considered necessary to formulate evidence-based clinical practice guidelines reflecting the most recent progress, to guide the practice of neonatologists, pediatric endocrinologists, general pediatricians, and pediatric surgeons. These guidelines cover a range of aspects, including general features of congenital hyperinsulinism, diagnostic criteria and tools for diagnosis, first- and second-line medical treatment, criteria for and details of surgical treatment, and future perspectives...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28794910/first-report-of-two-rare-entities-in-a-family-49-xxxxy-and-45-x
#13
Yavuz Şahin, Aysegül Özcan
49,XXXXY and 45,X syndromes are sex chromosome aneuploidies in which the affected individuals present with hypergonadotropic hypogonadism, short or long stature, and skeletal malformations. Psychological, endocrinological, and orthopaedic disorders constitute the major problems in the clinical follow-up. We report a family with two rare entities: 49,XXXXY and 45, X. Sex chromosome abnormalities should especially be in mind in the evaluation of patients with micropenis, mental retardation, and hypergonadotropic hypogonadism...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28758509/polycystic-ovary-syndrome-among-obese-adolescents
#14
Marina Ybarra, Ruth Rocha Franco, Louise Cominato, Raissa Beltrão Sampaio, Silvia Maria Sucena da Rocha, Durval Damiani
BACKGROUND AND AIMS: In adolescence and obesity, the pathophysiology of polycystic ovary syndrome (PCOS) is very difficult to distinguish. We aimed to assess the diagnosis of PCOS in the population of obese adolescent. METHODS: Cross-sectional study. SETTING: Pediatric Endocrinology Weight and Management Clinic from Children's Institute, São Paulo, Brazil. PARTICIPANTS: Forty-nine post-menarcheal obese adolescents with mean age of 14...
July 29, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28739653/the-metabolic-syndrome-in-children-and-adolescents-shifting-the-focus-to-cardiometabolic-risk-factor-clustering
#15
Sheela N Magge, Elizabeth Goodman, Sarah C Armstrong
Metabolic syndrome (MetS) was developed by the National Cholesterol Education Program Adult Treatment Panel III, identifying adults with at least 3 of 5 cardiometabolic risk factors (hyperglycemia, increased central adiposity, elevated triglycerides, decreased high-density lipoprotein cholesterol, and elevated blood pressure) who are at increased risk of diabetes and cardiovascular disease. The constellation of MetS component risk factors has a shared pathophysiology and many common treatment approaches grounded in lifestyle modification...
July 24, 2017: Pediatrics
https://www.readbyqxmd.com/read/28737859/association-between-dietary-glycemic-load-and-metabolic-syndrome-in-obese-children-and-adolescents
#16
Angela Cornejo-Monthedoro, Isel Negreiros-Sánchez, Carlos Del Águila, Marlit Ysla-Marquillo, Percy Mayta-Tristán
OBJETIVE: To study the association between the metabolic syndrome (MS) and the glycemic load (GL) of food intake among obese children and adolescents seen in consultation by the endocrinology team in a pediatric referral hospital in Lima, Peru. POPULATION AND METHOD: Cross-sectional study among obese children and adolescents (body mass index ≥ 95 percentile), 10-15 years old. The MS was classified according to criteria of the International Diabetes Federation...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28728265/-mass-spectrometry-combined-with-gene-analysis-for-prenatal-diagnosis-of-glutaric-acidemia-type-%C3%A2
#17
F Han, L S Han, W J Ji, T Chen, F Xu, Y Wang, J Ye, W J Qiu, H W Zhang, Y Z Jiang, C Hou, X F Gu
Objective: To investigate the value of amniotic fluid metabolite detection by mass spectrometry combined with gene mutation analysis in the prenatal diagnosis of glutaric acidemia type Ⅰ (GA-Ⅰ). Method: From January 2009 to December 2016, Department of Pediatric Endocrinology and Genetic, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine carried out prenatal diagnosis for 24 cases of pregnant women with GA-Ⅰproband. 24 pregnant women without organic acidemia proband for conventional prenatal diagnosis at the same period were used as the control group...
July 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28721140/serum-adipokines-and-vitamin-d-levels-in-patients-with-type-1-diabetes-mellitus
#18
Mohamed M Ismail, Tamer A Abdel Hamid, Alshaymaa A Ibrahim, Huda Marzouk
INTRODUCTION: Adiponectin, leptin and resistin are adipokines that play important roles in the regulation of lipid and carbohydrate metabolism in type 2 diabetes (T2DM). However, their influence in type 1 diabetes mellitus is still unknown. The aim of this study was to measure serum adiponectin, leptin and resistin levels and to investigate their relationships with vitamin D and other clinical and laboratory parameters in patients with type 1 diabetes. MATERIAL AND METHODS: Fifty subjects with type 1 diabetes and 50 healthy age- and sex-matched subjects were selected from the Endocrinology Outpatient Clinic of Cairo University Pediatrics Hospital...
June 2017: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/28719905/childhood-onset-adult-growth-hormone-deficiency-clinical-hormonal-and-radiological-assessment-in-a-single-center-in-china
#19
Hongbo Yang, Huijuan Zhu, Kemin Yan, Hui Pan
BACKGROUND: Although growth hormone deficiency (GHD) is an important issue in pediatric patients, adult GHD (AGHD) is a neglected field of endocrinology in China. The aim of this study is to characterize the clinical, hormonal, and radiological features in childhood-onset AGHD (CO AGHD) in a single center in China and to compare them with counterparts from Japan. METHODS: The medical records of 78 Chinese patients with CO AGHD were reviewed and compared with data from the HypoCCS database study from Japan (N = 69)...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28715814/the-impact-of-adolescent-obesity-on-adult-height
#20
Avivit Brener, Rachel Bello, Yael Lebenthal, Michal Jacobowitz-Gavan, Moshe Phillip, Shlomit Shalitin
BACKGROUND: Childhood obesity is a major health concern. Excess adiposity during childhood affects growth and puberty. Our aim was to assess whether genetic adult height is compromised in adolescents with obesity. METHODS: In a retrospective study of 190 obese patients followed at our Pediatric Endocrinology Institute, adult height and delta height (the difference between adult height and mid-parental height) were compared to those of 150 healthy age-matched normal-weight controls...
July 14, 2017: Hormone Research in Pædiatrics
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