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https://www.readbyqxmd.com/read/29771759/finding-treatable-genetic-obesity-strategies-for-success
#1
Kristin Dayton, Jennifer Miller
PURPOSE OF REVIEW: Genetic obesity is responsible for up to 7% of severe childhood obesity. Although current Pediatric Endocrine Society guidelines recommend assessment of children with early-onset morbid obesity and hyperphagia for underlying genetic disorders, a vast majority of patients are not being appropriately screened for genetic obesity syndromes. RECENT FINDINGS: With advances in genetic testing, more genetic causes of obesity are being identified. Treatments are likely to be individualized, depending on the cause of the obesity, and must be targeted at addressing the underlying cause...
May 15, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29765955/pediatric-multiple-endocrine-neoplasia-type-2b-clinicopathological-correlation-of-perilimbal-mucosal-neuromas-and-treatment-of-secondary-open-angle-glaucoma
#2
Ta Chen Chang, Kingsley C Okafor, Kara M Cavuoto, Sander R Dubovy, Carol L Karp
Ocular findings of multiple endocrine neoplasia type 2B (MEN 2B) include prominent corneal nerves, mucosal neuromas of the conjunctiva, glaucoma, and dry eyes. A 15-year-old girl with MEN 2B presents with advanced secondary open-angle glaucoma and bilateral perilimbal masses. High-resolution optical coherence tomography (HR-OCT) of the perilimbal lesions showed normal epithelial thickness and subepithelial lobular areas of mixed reflectivity, which correlates well with histopathologic findings of benign mucosal neuromas...
April 2018: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/29750653/risk-of-hypoglycemia-in-youth-with-type-2-diabetes-on-insulin
#3
Madhia Shahid, Gabriel Q Shaibi, Hayley Baines, Pamela Garcia-Filion, Zoe Gonzalez-Garcia, Micah Olson
BACKGROUND: The objective of this study was to ascertain the risk of hypoglycemia among youth with type 2 diabetes (T2D) on insulin therapy. METHODS: Twenty-two youth with T2D on insulin therapy (M=12, F=10, age=14.4±4.0 years) were enrolled from a single pediatric endocrine practice. They were followed-up for 3 months with weekly phone calls and monthly in-person visits to review blood glucose logs and document any signs or symptoms of hypoglycemia (defined as finger stick glucose of ≤70 mg/dL)...
May 11, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29746344/nutritional-considerations-in-pediatric-pancreatitis-a-position-paper-from-the-naspghan-pancreas-committee-espghan-pancreas-working-group
#4
Maisam Abu-El-Haija, Aliye Uc, Steven L Werlin, A Jay Freeman, Miglena Georgieva, Danijela Jojkić - Pavkov, Daina Kalnins, Brigitte Kochavi, Bart G P Koot, Stephanie Van Biervliet, Jaroslaw Walkowiak, Michael Wilschanski, Veronique D Morinville
OBJECTIVES: Wide variations exist in how physicians manage the nutritional aspects of children affected by acute pancreatitis (AP), acute recurrent pancreatitis (ARP) and chronic (CP) pancreatitis. Better consensus for optimal management is needed. METHODS: This consensus statement on nutrition in pediatric pancreatic diseases was developed through a joint ESPGHAN-NASPGHAN working group that performed an evidence-based search of the literature on nutrition in AP, ARP, and CP with a focus on pediatrics...
May 8, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29692919/case-based-review-pediatric-medulloblastoma
#5
REVIEW
Cassie N Kline, Roger J Packer, Eugene I Hwang, David R Raleigh, Steve Braunstein, Corey Raffel, Pratiti Bandopadhayay, David A Solomon, Mariam Aboian, Soonmee Cha, Sabine Mueller
Medulloblastoma is the most common malignant brain tumor affecting children. These tumors are high grade with propensity to metastasize within the central nervous system and, less frequently, outside the neuraxis. Recent advancements in molecular subgrouping of medulloblastoma refine diagnosis and improve counseling in regards to overall prognosis. Both are predicated on the molecular drivers of each subgroup-WNT-activated, SHH-activated, group 3, and group 4. The traditional therapeutic mainstay for medulloblastoma includes a multimodal approach with surgery, radiation, and multiagent chemotherapy...
September 2017: Neuro-oncology Practice
https://www.readbyqxmd.com/read/29678289/pathophysiology-of-melanocortin-receptors-and-their-accessory-proteins
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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...
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
#17
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
#18
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
#19
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
#20
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...
May 2018: Journal of Neurosurgery. Pediatrics
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