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neonatal endocrinology

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https://www.readbyqxmd.com/read/28523891/neonatal-endocrinologic-problems-in-collodion-babies
#1
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/28514932/case-report-of-severe-maternal-hyponatremia-complicating-preeclampsia
#2
Larry Hinkson, Robert Armbrust, Annika Möller, Wolfgang Henrich
The incidence of preeclampsia associated maternal and neonatal hyponatremia is reportedly rare and can be life threatening in severe cases. The timely diagnosis and careful management requires a multidisciplinary approach between obstetric, neonatal, endocrinology and intensive care teams. We report firstly, on a case of severe hyponatremia associated with preeclampsia, secondary to inappropriate Anti Diuretic Hormone secretion, followed by a review of cases over a one year period at our institution.
May 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28497491/male-child-with-somatic-mosaic-osteopathia-striata-with-cranial-sclerosis-caused-by-a-novel-pathogenic-amer1-frameshift-mutation
#3
Jennifer Hague, Isabelle Delon, Kim Brugger, Howard Martin, Leanne Sparnon, Ingrid Simonic, Stephen Abbs, Soo-Mi Park
Osteopathia striata with cranial sclerosis (OSCS; OMIM #300373) is a rare X-linked dominant condition caused by mutations in the AMER1 gene (also known as WTX or FAM123B). It is a condition which usually affects females in whom the clinical phenotype can be extremely variable. Conversely affected males typically die in utero or during the neonatal period [Perdu et al. (); Clinical Genetics 80: 383-388; Vasiljevic et al. (); Prenatal Diagnosis 35: 302-304]. There have been a small number of reported cases of surviving males, including three patients who are somatic mosaic for the condition [Chénier, Noor, Dupuis, Stavropoulos, & Mendoza-Londono, (); American Journal of Medical Genetics Part A 158A: 2946-2952; Holman et al...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28428227/mechanisms-in-endocrinology-the-multiple-facets-of-gh-lessons-from-lifetime-untreated-isolated-gh-deficiency-due-to-ghrh-receptor-mutation
#4
Manuel Aguiar-Oliveira, Anita Ho Souza, Carla R Oliveira, Viviane C Campos, Luiz A Oliveira-Neto, Roberto Salvatori
Twenty years ago, we described a kindred of 105 individuals with isolated GH deficiency (IGHD) in Itabaianinha County, in Brazilian northeast, due to a homozygous mutation in the GH-releasing hormone receptor gene. These subjects exhibit markedly reduced GH responsiveness to stimulatory tests, and anterior pituitary hypoplasia. Serum concentrations of IGF-I, IGF binding protein type 3, and the acid-labile subunit are markedly reduced, with a lesser reduction of IGF-II. The most striking physical findings of these IGHD individuals are the proportionate short stature, doll facies, high-pitched voice, and visceral obesity with reduced fat free mass...
April 20, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28323911/monogenic-diabetes-accounts-for-6-3-of-cases-referred-to-15-italian-pediatric-diabetes-centers-during-2007-2012
#5
Maurizio Delvecchio, Enza Mozzillo, Giuseppina Salzano, Dario Iafusco, Giulio Frontino, Patrizia I Patera, Ivana Rabbone, Valentino Cherubini, Valeria Grasso, Nadia Tinto, Sabrina Giglio, Giovanna Contreas, Rosa Di Paola, Alessandro Salina, Vittoria Cauvin, Stefano Tumini, Giuseppe d'Annunzio, Lorenzo Iughetti, Vilma Mantovani, Giulio Maltoni, Sonia Toni, Marco Marigliano, Fabrizio Barbetti
Context: Etiologic diagnosis of diabetes may impact on therapeutic strategy, and prognosis of chronic complications. Objective: The aim of the study was to establish the relative percentage of different diabetes subtypes in patients attending Italian pediatric diabetes centers, and the influence of etiologic diagnosis on therapy. Design, Setting and Patients: This was a retrospective study. Clinical records of 3781 consecutive patients (age: 0-18 years) referred to fifteen pediatric diabetes clinics and diagnosed with diabetes or IFG between Jan/1/2007 and Dec/31/2012 were examined...
February 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28229106/neonatal-corticosterone-administration-in-rodents-as-a-tool-to-investigate-the-maternal-programming-of-emotional-and-immune-domains
#6
Simone Macrì
Neonatal experiences exert persistent influences on individual development. These influences encompass numerous domains including emotion, cognition, reactivity to external stressors and immunity. The comprehensive nature of the neonatal programming of individual phenotype is reverberated in the large amount of experimental data collected by many authors in several scientific fields: biomedicine, evolutionary and molecular biology. These data support the view that variations in precocious environmental conditions may calibrate the individual phenotype at many different levels...
February 2017: Neurobiology of Stress
https://www.readbyqxmd.com/read/27986330/making-the-quick-diagnosis-a-case-of-neonatal-shock
#7
Mike Gardiner, Timothy K Ruttan, Andrew J Kienstra, Matthew Wilkinson
BACKGROUND: The work-up and initial management of a critically ill neonate is challenging and anxiety provoking for the Emergency Physician. While sepsis and critical congenital heart disease represent a large proportion of neonates presenting to the Emergency Department (ED) in shock, there are several additional etiologies to consider. Underlying metabolic, endocrinologic, gastrointestinal, neurologic, and traumatic disorders must be considered in a critically ill infant. Several potential etiologies will present with nonspecific and overlapping signs and symptoms, and the diagnosis often is not evident at the time of ED assessment...
April 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/27906195/congenital-hypothyroidism-with-delayed-thyroid-stimulating-hormone-elevation-in-premature-infants-born-at-less-than-30-weeks-gestation
#8
D C Kaluarachchi, T T Colaizy, L M Pesce, M Tansey, J M Klein
OBJECTIVE: Congenital hypothyroidism (CH) with delayed thyroid-stimulating hormone (TSH) elevation is a common form of thyroid dysfunction among premature infants. Routine newborn screening (NBS) may miss infants with CH with delayed TSH elevation. The objective of the study is to determine the prevalence of CH with delayed TSH elevation in premature infants and to identify associated risk factors. STUDY DESIGN: Retrospective analysis of serum thyroid function screening (TFS) at day of life 30 in premature infants <30 weeks gestation, admitted to University of Iowa Neonatal Intensive Care Unit between 1 July 2012 to 30 June 2015...
March 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27749014/society-for-endocrinology-uk-guidance-on-the-evaluation-of-suspected-disorders-of-sexual-development-emphasizing-the-opportunity-to-predict-adolescent-pubertal-failure-through-a-neonatal-diagnosis-of-absent-minipuberty
#9
LETTER
Richard Quinton, Yaasir Mamoojee, Channa N Jayasena, Jacques Young, Sasha Howard, Leo Dunkel, Tim Cheetham, Neil Smith, Andrew A Dwyer
No abstract text is available yet for this article.
February 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/27687532/management-of-undescended-testes-european-association-of-urology-european-society-for-paediatric-urology-guidelines
#10
REVIEW
Christian Radmayr, Hasan S Dogan, Piet Hoebeke, Radim Kocvara, Rien Nijman, Raimund Stein, Shabnam Undre, Serdar Tekgul
CONTEXT: Undescended testis is the most common endocrinological disease in the male newborn period. Incidence varies between 1.0% and 4.6% in full-term neonates, with rates as high as 45% in preterm neonates. Failure or delay of treatment can result in reduced fertility and/or increased testicular cancer risk in adulthood. OBJECTIVE: To provide recommendations for the diagnosis and treatment of boys with undescended testes which reduce the risk of impaired fertility and testicular cancer in adulthood...
December 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27596083/-analysis-of-phenotypes-and-genotypes-in-66-patients-with-21-hydroxylase-deficiency-identified-by-neonatal-screening
#11
R F Wang, X F Gu, J Ye, L S Han, W J Qiu, H W Zhang, Y G Yu, Z W Gong
OBJECTIVE: To analyze the phenotype-genotype correlation of 21-hydroxylase deficiency (21-OHD) patients found by neonatal screening, and to investigate the characteristics of gene frequency of these patients. METHOD: Clinical and biochemical data of 66 21-OHD patients diagnosed by neonatal screening in department of pediatric endocrinology and genetics and neonatal screening center of Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine from 2009 to 2014 were retrospectively analyzed...
September 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27485500/congenital-primary-adrenal-insufficiency-and-selective-aldosterone-defects-presenting-as-salt-wasting-in-infancy-a-single-center-10-year-experience
#12
Carla Bizzarri, Nicole Olivini, Stefania Pedicelli, Romana Marini, Germana Giannone, Paola Cambiaso, Marco Cappa
BACKGROUND: Salt-wasting represents a relatively common cause of emergency admission in infants and may result in life-threatening complications. Neonatal kidneys show low glomerular filtration rate and immaturity of the distal nephron leading to reduced ability to concentrate urine. METHODS: A retrospective chart review was conducted for infants hospitalized in a single Institution from 1(st) January 2006 to 31(st) December 2015. The selection criterion was represented by the referral to the Endocrinology Unit for hyponatremia (serum sodium <130 mEq/L) of suspected endocrine origin at admission...
August 2, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27285676/physiology-and-endocrinology-symposium-roles-for-insulin-supported-skeletal-muscle-growth
#13
R P Rhoads, L H Baumgard, S W El-Kadi, L D Zhao
Basic principles governing skeletal muscle growth and development, from a cellular point of view, have been realized for several decades. Skeletal muscle is marked by the capacity for rapid hypertrophy and increases in protein content. Ultimately, skeletal muscle growth is controlled by 2 basic means: 1) myonuclear accumulation stemming from satellite cell (myoblast) proliferation and 2) the balance of protein synthesis and degradation. Each process underlies the rapid changes in lean tissue accretion evident during fetal and neonatal growth and is particularly sensitive to nutritional manipulation...
May 2016: Journal of Animal Science
https://www.readbyqxmd.com/read/27256224/-consensus-statement-on-neonatal-screening-for-congenital-adrenal-hyperplasia
#14
(no author information available yet)
No abstract text is available yet for this article.
June 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/27200316/prenatal-diagnosis-of-fetal-adrenal-hemorrhage-and-endocrinologic-evaluation
#15
Se In Shin, Ji Geun Yoo, In Yang Park, Ju Young Cheon
We present a case of a fetal adrenal hemorrhage, a rare disease in fetal life, detected prenatally at 36 weeks' gestation by ultrasound. Routine ultrasound examination at 36 weeks' gestation by primary obstetrician showed a cyst on the fetal suprarenal area. Initially, the suspected diagnosis was a fetal adrenal hemorrhage, but we should diagnose differently from neuroblastoma. Subsequent ultrasound examination at 38 and 39 weeks' gestation showed increase of the cyst in size. A 3.34-kg-male neonate was born by spontaneous vaginal delivery at 39 weeks' gestation...
May 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/26931272/salt-losing-variety-of-congenital-adrenal-hyperplasia-a-case-report
#16
N Nahar, A C Dey, K A Khan, S K Dey, M A Mannan, M Shahidullah
Congenital adrenal hyperplasia is a genetic endocrinologic disorder. The severe classic form occurs in one in 15,000 births worldwide. Twenty-one-hydroxylase deficiency (21-OHD) is the most common cause in this autosomal recessive disease. It can cause virilization, ambiguous genitalia at birth and severe life threatening condition due to salt wasting. In this report we describe the clinical course of a male neonate presenting with lethargy, failure to thrive (FTT), genital pigmentation, electrolytes imbalance and high serum 17-hydroxy-progesterone (17-OHP) level and subsequently diagnosed as Congenital Adrenal Hyperplasia...
January 2016: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/26913801/-update-on-endocrinology-management-of-prolactinomas-during-pregnancy
#17
REVIEW
Laura A Cecenarro, Paula Estario, María E Estario, Carolina Fux-Otta
UNLABELLED: The prolactinomas are the most common functioning pituitary tumors. The hyperprolactinemia is associated with anovulation and infertility. OBJECTIVES: a) describe the relationship between hyperprolactinemia and fertility, b) review the results of the use of dopamine agonists during pregnancy and embryo-fetal development and c) review the therapeutic management in micro and macroprolactinomas during pregnancy. CONTENT: Medical therapy with dopamine agonists is the best treatment for prolactinomas of any size or invasiveness and restores ovulatory cycles in 80-90 % of patients...
2015: Revista de la Facultad de Ciencias Médicas
https://www.readbyqxmd.com/read/26693435/comparison-of-different-criteria-for-diagnosis-of-gestational-diabetes-mellitus
#18
Haritha Sagili, Sadishkumar Kamalanathan, Jayaprakash Sahoo, Subitha Lakshminarayanan, Reddi Rani, D Jayalakshmi, K T Hari Chandra Kumar
INTRODUCTION: The International Association of Diabetes in Pregnancy Study Group (IADPSG) criteria for gestational diabetes mellitus (GDM) has been adopted by most associations across the world including the American Diabetes Association and World Health Organization (WHO). We conducted a study comparing the IADPSG and previous WHO criteria and their effects on neonatal birth weight. METHODS: The study was carried out in Obstetrics and Gynaecology Department of a tertiary care institute in South India in collaboration with Endocrinology Department...
November 2015: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/26646938/genetics-in-endocrinology-gain-and-loss-of-function-mutations-of-the-calcium-sensing-receptor-and-associated-proteins-current-treatment-concepts
#19
REVIEW
Bernhard Mayr, Dirk Schnabel, Helmuth-Günther Dörr, Christof Schöfl
The calcium-sensing receptor (CASR) is the main calcium sensor in the maintenance of calcium metabolism. Mutations of the CASR, the G protein alpha 11 (GNA11) and the adaptor-related protein complex 2 sigma 1 subunit (AP2S1) genes can shift the set point for calcium sensing causing hyper- or hypo-calcemic disorders. Therapeutic concepts for these rare diseases range from general therapies of hyper- and hypo-calcemic conditions to more pathophysiology oriented approaches such as parathyroid hormone (PTH) substitution and allosteric CASR modulators...
May 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/26594092/guidelines-for-diagnosis-and-treatment-of-21-hydroxylase-deficiency-2014-revision
#20
Tomohiro Ishii, Makoto Anzo, Masanori Adachi, Kazumichi Onigata, Satoshi Kusuda, Keisuke Nagasaki, Shohei Harada, Reiko Horikawa, Masanori Minagawa, Kanshi Minamitani, Haruo Mizuno, Yuji Yamakami, Masaru Fukushi, Toshihiro Tajima
Purpose of developing the guidelines: The first guidelines for diagnosis and treatment of 21-hydroxylase deficiency (21-OHD) were published as a diagnostic handbook in Japan in 1989, with a focus on patients with severe disease. The "Guidelines for Treatment of Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) Found in Neonatal Mass Screening (1999 revision)" published in 1999 were revised to include 21-OHD patients with very mild or no clinical symptoms. Accumulation of cases and experience has subsequently improved diagnosis and treatment of the disease...
July 2015: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
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