keyword
MENU ▼
Read by QxMD icon Read
search

Pediatric endocrine

keyword
https://www.readbyqxmd.com/read/29678289/pathophysiology-of-melanocortin-receptors-and-their-accessory-proteins
#1
REVIEW
T V Novoselova, L F Chan, A J L Clark
The melanocortin receptors (MCRs) and their accessory proteins (MRAPs) are involved in regulation of a diverse range of endocrine pathways. Genetic variants of these components result in phenotypic variation and disease. The MC1R is expressed in skin and variants in the MC1R gene are associated with ginger hair color. The MC2R mediates the action of ACTH in the adrenal gland to stimulate glucocorticoid production and MC2R mutations result in familial glucocorticoid deficiency (FGD). MC3R and MC4R are involved in metabolic regulation and their gene variants are associated with severe pediatric obesity, whereas the function of MC5R remains to be fully elucidated...
April 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29675073/digeorge-syndrome-with-sacral-myelomeningocele-and-epilepsy
#2
Gülsüm Alkan, Melike Keser Emiroglu, Ayse Kartal
DiGeorge syndrome (DGS) is the most common microdeletion syndrome. The phenotype of DGS is highly variable involving facial, velopharyngeal, cardiac, immunologic, endocrinal, and neuropsychiatric abnormalities. Although neural tube defects (NTDs) have not been described as components of DGS in standard pediatric textbooks, there have been a few case reports of DGS with NTDs. Furthermore, in patients with DGS, seizures can occur due to hypocalcemia or cortical dysgenesis. Few cases of epilepsy have been reported with NTDs without a cortical defect...
October 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29669934/divergent-responses-to-kisspeptin-in-children-with-delayed-puberty
#3
Yee-Ming Chan, Margaret F Lippincott, Temitope O Kusa, Stephanie B Seminara
BACKGROUND: The neuropeptide kisspeptin stimulates luteinizing hormone (LH) secretion in healthy adults but not in adults with idiopathic hypogonadotropic hypogonadism. We hypothesized that, in children presenting with delayed or stalled puberty, kisspeptin would elicit LH secretion in those children found on detailed nighttime neuroendocrine profiling to have evidence of emerging reproductive endocrine function. METHODS: Eleven boys and four girls were admitted overnight to assess LH secretion at baseline, after a single intravenous bolus of kisspeptin, and after a single intravenous bolus of gonadotropin-releasing hormone (GnRH)...
April 19, 2018: JCI Insight
https://www.readbyqxmd.com/read/29666169/impact-of-transitional-care-on-endocrine-and-anthropometric-parameters-in-prader-willi-syndrome
#4
Anne-Cécile Paepegaey, Muriel Coupaye, Asma Jaziri, Florence Menesguen, Béatrice Dubern, Michel Polak, Jean-Michel Oppert, Maithe Tauber, Graziella Pinto, Christine Poitou
CONTEXT: The transition of patients with Prader-Willi syndrome (PWS) to adult life for medical care is challenging because of multiple comorbidities, including hormone deficiencies, obesity, and cognitive and behavioral disabilities. OBJECTIVE: To assess endocrine management, and metabolic and anthropometric parameters of PWS adults who received (n=31) or not (n=64) transitional care, defined as specialized pediatric care followed by a structured care pathway to a multidisciplinary adult team...
April 17, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29664655/short-term-assessment-of-hsct-effects-on-the-hypothalamus-pituitary-axis-in-pediatric-thalassemic-patients
#5
Amir Ali Hamidieh, Fariba Mohseni, Maryam Behfar, Zohreh Hamidi, Kamran Alimoghaddam, Mohamad Pajouhi, Bagher Larijani, Mohammad-Reza Mohajeri-Tehrani, Ardeshir Ghavamzadeh
BACKGROUND: Beta thalassemia major (BTM) and its treatment by hematopoietic stem cell transplantation (HSCT) may have deleterious effects on the endocrine systems. We assessed endocrine complications of HSCT in pediatric patients for 3 months. METHODS: In 20 (6 female) pediatric major thalassemic patients (mean age of 10.8 ± 3.9 years old), prolactin, luteinizing hormone (LH), follicle-stimulating hormone (FSH), T4, T3, thyroid-stimulating hormone (TSH), IGF-1, testosterone (in males) or estradiol (in females) were measured as a batch at the Endocrinology and Metabolism Research Center (EMRC) of Tehran University of Medical Sciences (TUMS) laboratories before HSCT and 1 and 3 months afterwards...
February 1, 2018: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/29605260/pediatric-phyllodes-tumors-a-review-of-the-national-cancer-data-base-and-adherence-to-nccn-guidelines-for-phyllodes-tumor-treatment
#6
Harold J Leraas, Laura H Rosenberger, Yi Ren, Brian Ezekian, Uttara P Nag, Christopher R Reed, Samantha M Thomas, Eun-Sil Shelley Hwang, Elisabeth T Tracy
BACKGROUND: Phyllodes tumors are fibroepithelial breast lesions that are uncommon in women and rare among children. Due to scarcity, few large pediatric phyllodes tumor series exist. Current guidelines do not differentiate treatment recommendations between children and adults. We examined national guideline adherence for children and adults. METHODS: We queried the NCDB (2004-2014) for female patients with phyllodes tumor histology, excluding patients with missing age or survival data...
March 7, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29599748/polyostotic-fibrous-dysplasia-with-and-without-mccune-albright-syndrome-clinical-features-in-a-nordic-pediatric-cohort
#7
Pauliina Utriainen, Helena Valta, Sigridur Björnsdottir, Outi Mäkitie, Eva Horemuzova
Objective: Fibrous dysplasia (FD) presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic GNAS mutation. McCune-Albright syndrome (MAS) refers to FD combined with skin (café-au-lait) and endocrine manifestations. This study describes the clinical childhood manifestations of polyostotic FD and MAS in a Nordic cohort. Patients and design: We retrospectively reviewed a cohort of pediatric patients ( n  = 16) with polyostotic FD with or without MAS diagnosed and followed in two Nordic Pediatric tertiary clinics between 1996 and 2017...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29594260/endocrine-disorders-in-primary-mitochondrial-disease
#8
Iman S Al-Gadi, Richard H Haas, Marni J Falk, Amy Goldstein, Shana E McCormack
Context: Endocrine disorders are common in individuals with mitochondrial disease. To develop evidence-based screening practices in this high-risk population, updated age-stratified estimates of the prevalence of endocrine conditions are needed. Objective: To measure the point prevalence of selected endocrine disorders in individuals with mitochondrial disease. Design Setting and Patients: The North American Mitochondrial Disease Consortium Patient Registry is a large, prospective, physician-curated cohort study of individuals with mitochondrial disease...
April 1, 2018: Journal of the Endocrine Society
https://www.readbyqxmd.com/read/29582520/pediatric-endocrine-society-survey-of-diabetes-practices-in-the-united-states-what-is-the-current-state
#9
Ines Guttmann-Bauman, Paul Thornton, Soumya Adhikari, Kent Reifschneider, Michael A Wood, Tyler Hamby, Karen Rubin
The Practice Management Committee (PMC) of the Pediatric Endocrine Society (PES) conducted a survey of its membership in February/March 2016 to assess the current state of pediatric diabetes care delivery across multiple practice types in the United States. RESEARCH DESIGN AND METHODS: The PES distributed an anonymous electronic survey (Survey Monkey) via email to its membership and requested that only one survey be completed for each practice. RESULTS: Ninety-three unique entries from the US were entered into analysis...
March 26, 2018: Pediatric Diabetes
https://www.readbyqxmd.com/read/29563068/pediatric-endocrine-and-metabolic-diseases-and-proteomics
#10
Ioanna Kosteria, Christina Kanaka-Gantenbein, Athanasios K Anagnostopoulos, George P Chrousos, George Th Tsangaris
The principles of Predictive, Preventive and Personalized Medicine (PPPM) dictate the need to recognize individual susceptibility to disease in a timely fashion and to offer targeted preventive interventions and treatments. Proteomics is a state-of-the art technology- driven science aiming at expanding our understanding of the pathophysiologic mechanisms that underlie disease, but also at identifying accurate predictive, diagnostic and therapeutic biomarkers, that will eventually promote the implementation of PPPM...
March 18, 2018: Journal of Proteomics
https://www.readbyqxmd.com/read/29539631/urgent-optic-nerve-decompression-via-an-endoscopic-endonasal-transsphenoidal-approach-for-craniopharyngioma-in-a-12-month-old-infant-a-case-report
#11
Teishiki Shibata, Motoki Tanikawa, Tomohiro Sakata, Mitsuhito Mase
Craniopharyngiomas are benign tumors and account for approximately 5.6-13% of all intracranial tumors in children. Diagnosis of pediatric craniopharyngioma is often delayed until the tumor becomes relatively large and manifests severe visual and/or endocrine disturbance. Endoscopic endonasal approaches have recently been introduced to surgery for craniopharyngioma. These techniques, however, have rarely been utilized in patients affected with craniopharyngioma as young as 1 year old. This report documents a 12-month-old male infant with sellar craniopharyngioma who presented with acute total vision loss...
March 14, 2018: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29535946/application-of-chromosomal-microarray-for-evaluation-of-idiopathic-short-stature-in-asian-indian-children-a-pilot-study
#12
Hema Singh, Pradeep Tiwari, Vijay Bhavi, Praveen Singh Chaudhary, Prashanth Suravajhala, M Krishna Mohan, Sandeep Kumar Mathur
Background: Human height is a classic polygenic trait and currently available data explains only 10% of the phenotypic variation in height. Almost 60%-80% of the children coming to pediatric and endocrinology outpatient department for the evaluation of short stature are still labeled as idiopathic. Objectives: The aim of this study is to identify various chromosomal alterations causing idiopathic short stature (ISS) and short stature with dysmorphic features not pertaining to known genetic syndromes...
January 2018: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29535944/lipid-profile-in-relation-to-glycemic-control-in-type-1-diabetes-children-and-adolescents-in-bangladesh
#13
Bedowra Zabeen, Ana Margarida Balsa, Nasreen Islam, Mukta Parveen, Jebun Nahar, Kishwar Azad
Introduction: Dyslipidemia and hyperglycemia are metabolic abnormalities commonly found in young patients with Type 1 diabetes mellitus (T1DM) and both increase the risk of cardiovascular disease. Methods: This cross-sectional study was aimed to evaluate the pattern of dyslipidemia and its relationship with other risk factors in children and adolescents with T1DM. A total of 576 T1DM patients aged 10-18 years who attended Changing Diabetes in Children, a pediatric diabetes clinic in Bangladesh Institute of Research and Rehabilitation for Diabetes, Endocrine and Metabolic Disorders over 1 year period from July 2015 to June 2016 were included in this study...
January 2018: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29531723/virginal-breast-hypertrophy-in-a-patient-with-beckwith-wiedemann-syndrome
#14
Edyta Szymańska, Elżbieta Moszczyńska, Dariusz Polnik, Sylwia Szymańska, Elżbieta Jurkiewicz, Michał Pyzlak, Michał Armata, Małgorzata Walewska-Wolf, Piotr Kaliciński, Dariusz Rokicki, Mieczysław Szalecki
Virginal breast hypertrophy is a multidisciplinary condition including surgical, pediatric, and endocrine/gynecological disciplines, and its successful diagnosis and management requires complex, team approach.
March 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29498601/edema-of-the-optic-tract-in-patients-with-tumors-of-the-sellar-region-clinical-and-visual-implications-in-the-pediatric-population
#15
Aurore Bussat, Maia Proisy, Bertrand Bruneau, Guillaume Bouzillé, Céline Chappé, Laurent Riffaud
OBJECTIVE Tumor-related edema of the optic tract (EOT) corresponds to a preferential posterior distribution of peritumoral edema along the white matter tract of the visual system. To date, the consequences of EOT have never been evaluated specifically in the pediatric population. In this study, the authors attempted to identify clinical and radiological features associated with the development of EOT and the specific influence of this edema on visual function. METHODS A retrospective review was performed of data collected from patients younger than 18 years who underwent surgery for a tumor in the sellar region at the authors' institution between January 2005 and January 2016...
March 2, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29488552/-safety-of-fluoroquinolones-risks-usually-forgotten-for-the-clinician
#16
Claudio González M, Ruth Rosales C, Daniela Pavez, Luz M Fuenzalida, Andrés Soto, Regina Pérez, Jorge Pérez, Rafael Araos, M Eugenia Pinto
Quinolones are a group of widely used antimicrobials. Although they are considered safe for patients, knowledge of the safety profile is necessary so that professionals become aware of what is necessary to monitor. At the musculoskeletal level, quinolones have the potential to damage cartilage, causing even tendon rupture in infrequent cases. Hypoglycemia / hyperglycemia has been observed at the endocrine level, thus, careful monitoring of glycemia in patients with quinolone is recommended in diabetic patients...
December 2017: Revista Chilena de Infectología: órgano Oficial de la Sociedad Chilena de Infectología
https://www.readbyqxmd.com/read/29487768/suprasellar-germinoma-presenting-with-slipped-capital-femoral-epiphysis-case-report
#17
Keerthana Sankar, Wade Kyono, Corey Raffel, Theodore Nicolaides
Slipped capital femoral epiphysis (SCFE) is a fracture that results from displacement of the proximal femoral epiphysis from the femoral neck. SCFE can be caused by various endocrinopathies that lead to bone weakening in both adult and pediatric patients. We report a rare case of suprasellar germinoma presenting with SCFE in an 11-year-old female patient. The findings of this case further support the need to consider pituitary lesions as the underlying cause of endocrine deficiences leading to SCFE.
December 16, 2017: Curēus
https://www.readbyqxmd.com/read/29479339/the-natural-history-of-metabolic-comorbidities-in-turner-syndrome-from-childhood-to-early-adulthood-comparison-between-45-x-monosomy-and-other-karyotypes
#18
Yael Lebenthal, Sigal Levy, Efrat Sofrin-Drucker, Nessia Nagelberg, Naomi Weintrob, Shlomit Shalitin, Liat de Vries, Ariel Tenenbaum, Moshe Phillip, Liora Lazar
Objective: Patients with Turner syndrome (TS) are at increased risk for metabolic disorders. We aimed to delineate the occurrence and evolution of metabolic comorbidities in TS patients and to determine whether these differ in 45,X monosomy and other karyotypes. Methods: A longitudinal and cross-sectional retrospective cohort study was conducted in a tertiary pediatric endocrine unit during 1980-2016. Ninety-eight TS patients, 30 with 45,X monosomy were followed from childhood to early adulthood...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29476665/employing-a-results-based-algorithm-to-reduce-laboratory-utilization-in-acth-stimulation-testing
#19
Ryan J McDonough, Patria Alba, Kavitha Dileepan, Joseph T Cernich
BACKGROUND: The High Dose Adrenocorticotropic Hormone (ACTH) Stimulation Test is the gold standard to diagnose adrenal insufficiency. Normal adrenal function is defined as a peak cortisol response to pharmacologic stimulation with cosyntropin of ≥18 μg/dL. Our practice was to obtain cortisol levels at 0, 30 and 60 min after cosyntropin administration. Once a value of ≥18 μg/dL has been obtained, adrenal insufficiency is ruled out and there is little diagnostic utility in subsequent stimulated levels...
February 24, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29464978/the-association-between-birth-weight-at-term-and-long-term-endocrine-morbidity-of-the-offspring
#20
E Spiegel, I Shoham-Vardi, R Sergienko, D Landau, E Sheiner
OBJECTIVE: To investigate whether small-for-gestational-age (SGA) and large-for-gestational-age (LGA) birth weight at-term poses an increased risk for long-term pediatric endocrine morbidity. STUDY DESIGN: A retrospective population-based cohort study compared the incidence of long-term pediatric hospitalizations due to endocrine morbidity of singleton children born SGA, appropriate-for-gestational-age (AGA) and LGA at-term. A multivariate generalized estimating equation (GEE) logistic regression model analysis was used to control for confounders...
February 21, 2018: Journal of Maternal-fetal & Neonatal Medicine
keyword
keyword
117736
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"