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https://www.readbyqxmd.com/read/28730220/verner-morrison-syndrome-literature-review
#1
Oana Andreea Belei, Elena Rodica Heredea, Estera Boeriu, Tamara Marcela Marcovici, Simona Cerbu, Otilia Mărginean, Emil Radu Iacob, Daniela Iacob, Andrei Gheorghe Marius Motoc, Eugen Sorin Boia
Chronic diarrhea in infants is a common condition for addressability to pediatric gastroenterologists. The causes are multiple and the delay in reaching the final diagnosis can lead to complications in the general condition of the child. The purpose of this review is to present the bio-clinical and histogenetic particularities of a rare clinical entity, characterized by tumoral causes of chronic diarrhea. VIPomas are neuroendocrine tumors that autonomously secrete vasoactive intestinal peptide (VIP). Watery diarrhea, hypokalemia and achlorhydria (WDHA) syndrome caused by VIP-producing tumors only rarely occurs in adult patients with non-pancreatic disease...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28533356/loss-of-function-mutations-in-the-cables1-gene-are-a-novel-cause-of-cushing-s-disease
#2
Laura C Hernández-Ramírez, Ryhem Gam, Nuria Valdés, Maya B Lodish, Nathan Pankratz, Aurelio Balsalobre, Yves Gauthier, Fabio R Faucz, Giampaolo Trivellin, Prashant Chittiboina, John Lane, Denise M Kay, Aggeliki Dimopoulos, Stephan Gaillard, Mario Neou, Jérôme Bertherat, Guillaume Assié, Chiara Villa, James L Mills, Jacques Drouin, Constantine A Stratakis
The CABLES1 cell cycle regulator participates in the adrenal-pituitary negative feedback, and its expression is reduced in corticotropinomas, pituitary tumors with a largely unexplained genetic basis. We investigated the presence of CABLES1 mutations/copy number variations (CNVs) and their associated clinical, histopathological and molecular features in patients with Cushing's disease (CD). Samples from 146 pediatric (118 germline DNA only/28 germline and tumor DNA) and 35 adult (tumor DNA) CD patients were screened for CABLES1 mutations...
August 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28472487/11-oxygenated-androgens-are-biomarkers-of-adrenal-volume-and-testicular-adrenal-rest-tumors-in-21-hydroxylase-deficiency
#3
Adina F Turcu, Ashwini Mallappa, Meredith Elman, Nilo A Avila, Jamie Marko, Hamsini Rao, Alexander Tsodikov, Richard J Auchus, Deborah P Merke
Context: Patients with 21-hydroxylase deficiency (21OHD) suffer from long-term complications, which might result from poor disease control and/or glucocorticoid overtreatment. Lack of optimal biomarkers has made it challenging to tailor therapy and to predict long-term outcomes. Objective: To identify biomarkers of disease control and long-term complications in 21OHD. Setting and participants: Cross-sectional study of 114 patients (70 males), ages 2 to 67 (median, 15) years, seen in a tertiary referral center...
May 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28469338/pheochromocytoma-in-a-child-without-hypertension-a-contribution-to-the-rule-of-10s
#4
Prasanta Kumar Tripathy, Kaumudee Pattnaik, Manjushree Nayak, Hiranya Kishor Mohanty
Pheochromocytoma (PCC) is a neuroendocrine tumor originating from chromaffin tissue in adrenal medulla. Its diagnosis and treatment are well defined in adults, but experience in children is limited. Children constitute only 10% of reported cases, the average age at presentation being 11 years. The most common presentation is sustained hypertension, which is absent in only 10% of children. We managed a 14-month-old female child with PCC, but she was not hypertensive. We report two unusual features, in this case, an extremely young age at presentation and a childhood case of nonhypertensive PCC contributing for "rule of 10s...
January 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/28465480/clinical-and-biological-features-of-neuroblastic-tumors-a-comparison-of-neuroblastoma-and-ganglioneuroblastoma
#5
Wen-Guang He, Yu Yan, Wen Tang, Rong Cai, Gang Ren
Neuroblastoma (NB), ganglioneuroblastoma intermixed (GNBi) and ganglioneuroblastoma nodular (GNBn) are neuroblastic tumors that present with a wide range of symptoms and variable prognoses. We retrospectively reviewed the pretreatment clinical (age, sex and tumor stage) and biological (MYCN amplification; and levels of lactate dehydrogenase, ferritin and neuron-specific enolase) characteristics of 279 patients who were diagnosed with pathologically confirmed NB and GNB from January 2005 to December 2015. The median age at diagnosis increased with grade of differentiation (NB: 28...
June 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28450075/congenital-adrenal-hyperplasia
#6
REVIEW
Selma Feldman Witchel
The congenital adrenal hyperplasias (CAH) comprise a family of autosomal recessive disorders that disrupt adrenal steroidogenesis. The most common form is due to21-hydroxylase deficiency associated with mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features associated with each disorder of adrenal steroidogenesis represent a clinical spectrum reflecting the consequences of the specific mutations. Treatment goals include normal linear growth velocity and "on-time" puberty in affected children...
April 24, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28445278/analysis-of-treatment-of-large-abdominal-malignancies-in-children-complicated-with-abdominal-compartment-syndrome-report-of-six-cases
#7
Zeng Le-Xiang, Wu Yao-Hao, Li Na, Qiu Rong-Lin, Zhou Jia-Jia, Jiang Wen-Li, Zhang Jie, Deng Xiao-Geng
To explore effective treatment of large abdominal malignancies in children complicated with abdominal compartment syndrome (ACS).Six children with large abdominal malignancies complicated with ACS were admitted to our department from January 2013 to January 2016, and the changes in their breathing, heart rate, oxygen saturation, abdominal circumference, bladder pressure, and urine output, as well as the treatment measures and outcomes, were retrospectively analyzed.The 6 children included 1 child with bilateral nephroblastoma, 1 child with abdominal alveolar rhabdomyosarcoma, 1 child with right ovarian malignant teratoma complicated with abdominal glioma, 1 child with abdominal malignant teratoma, 1 child with right nephroblastoma, and 1 child with left adrenal gland neuroblastoma...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28433999/circadian-plasma-cortisol-measurements-reflect-severity-of-hypercortisolemia-in-children-with-different-etiologies-of-endogenous-cushing-syndrome
#8
Amit Tirosh, Maya B Lodish, Charalampos Lyssikatos, Elena Belyavskaya, Georgios Z Papadakis, Constantine A Stratakis
BACKGROUND: The utility of circadian cortisol variation in estimating the degree of hypercortisolemia in different forms of endogenous Cushing syndrome (CS) has not been evaluated in children yet. METHODS: A retrospective cohort study, including children who underwent surgery due to CS (n = 115), was divided into children with a pituitary adenoma (Cushing disease) (n = 88), primary adrenal CS (n = 21), or ectopic adrenocorticotropin- or corticotropin-releasing hormone (ACTH-/CRH)-secreting tumors (n = 6)...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28383813/mibg-avidity-correlates-with-clinical-features-tumor-biology-and-outcomes-in-neuroblastoma-a-report-from-the-children-s-oncology-group
#9
Steven G DuBois, Rajen Mody, Arlene Naranjo, Collin Van Ryn, Douglas Russ, Derek Oldridge, Susan Kreissman, David L Baker, Marguerite Parisi, Barry L Shulkin, Harrison Bai, Sharon J Diskin, Vandana Batra, John M Maris, Julie R Park, Katherine K Matthay, Gregory Yanik
BACKGROUND: Prior studies suggest that neuroblastomas that do not accumulate metaiodobenzylguanidine (MIBG) on diagnostic imaging (MIBG non-avid) may have more favorable features compared with MIBG avid tumors. We compared clinical features, biologic features, and clinical outcomes between patients with MIBG nonavid and MIBG avid neuroblastoma. PROCEDURE: Patients had metastatic high- or intermediate-risk neuroblastoma and were treated on Children's Oncology Group protocols A3973 or A3961...
April 6, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28367616/management-of-neuroblastoma-icmr-consensus-document
#10
REVIEW
Deepak Bansal, Sidharth Totadri, Girish Chinnaswamy, Sandeep Agarwala, Tushar Vora, Brijesh Arora, Maya Prasad, Gauri Kapoor, Venkatraman Radhakrishnan, Siddharth Laskar, Tanvir Kaur, G K Rath, Sameer Bakhshi
Neuroblastoma (NBL) is the most common extra-cranial solid tumor in childhood. High-risk NBL is considered challenging and has one of the least favourable outcomes amongst pediatric cancers. Primary tumor can arise anywhere along the sympathetic chain. Advanced disease at presentation is common. Diagnosis is established by tumor biopsy and elevated urinary catecholamines. Staging is performed using bone marrow and mIBG scan (FDG-PET/bone scan if mIBG unavailable or non-avid). Age, stage, histopathological grading, MYCN amplification and 11q aberration are important prognostic factors utilized in risk stratification...
June 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28347316/trends-of-testis-sparing-surgery-for-pediatric-testicular-tumors-in-south-china
#11
Yun-Lin Ye, Qiu-Ming He, Fu-Fug Zheng, Sheng-Jie Guo, Fang-Jian Zhou, Zi-Ke Qin
BACKGROUND: Testis-sparing surgery is not popular in South China. This study aimed to investigate this procedure for pediatric testicular tumors. METHODS: Children with testicular benign tumors were retrospectively analyzed from January 2001 to June 2015 in the Sun Yat-sen University Cancer Center (SYSUCC) and the First Affiliated Hospital (SYSU-1st). Follow-up was performed until June 2016, and the proportions of TSS in the two hospitals during the different periods were compared...
March 27, 2017: BMC Surgery
https://www.readbyqxmd.com/read/28326217/a-rare-adrenal-mass-in-a-3-month-old-a-case-report-and-literature-review
#12
Ashish Garg, Elza Pollak-Christian, Navneetha Unnikrishnan
A three-month-old female infant presented with abdominal distention for 2 months. A large palpable mass in right upper quadrant was noted on physical exam. Abdominal ultrasound revealed a large heterogeneous mass with multiple cystic components. Mass was surgically excised and pathology was consistent with mature adrenal teratoma. Teratoma is a germ cell tumor mainly found in gonadal tissues. Occurrence of adrenal gland teratoma in children is very rare with less than 10 pediatric case reports in English literature...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28324046/characteristics-of-pediatric-vs-adult-pheochromocytomas-and-paragangliomas
#13
MULTICENTER STUDY
Christina Pamporaki, Barbora Hamplova, Mirko Peitzsch, Aleksander Prejbisz, Felix Beuschlein, Henri J L M Timmers, Martin Fassnacht, Barbara Klink, Maya Lodish, Constantine A Stratakis, Angela Huebner, Stephanie Fliedner, Mercedes Robledo, Richard O Sinnott, Andrzej Januszewicz, Karel Pacak, Graeme Eisenhofer
Context: Pheochromocytomas and paragangliomas (PPGLs) in children are often hereditary and may present with different characteristics compared with adults. Hereditary PPGLs can be separated into cluster 1 and cluster 2 tumors due to mutations impacting hypoxia and kinase receptor signaling pathways, respectively. Objective: To identify differences in presentation of PPGLs between children and adults. Design: A retrospective cross-sectional clinical study...
April 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28289431/management-issues-of-congenital-adrenal-hyperplasia-during-the-transition-from-pediatric-to-adult-care
#14
REVIEW
Jin-Ho Choi, Han-Wook Yoo
Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into adulthood. Adolescents and adults with CAH experience a number of complications, including short stature, obesity, infertility, tumor, osteoporosis, and reduced quality of life. Transition from pediatric to adult care and management of long-term complications are challenging for both patients and health-care providers...
February 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28246490/cystic-adrenal-lesions-focus-on-pediatric-population-a-review
#15
REVIEW
Mara Carsote, Adina Ghemigian, Dana Terzea, Ancuta Augustina Gheorghisan-Galateanu, Ana Valea
BACKGROUND AND AIM: The cysts may potentially affect any organ; adrenals cysts are rare. This is a review of the literature regarding adrenal cysts, focusing on children and young adults. GENERAL DATA: Three major types have been described: pure cysts (endothelial, epithelial, and hemorrhagic or pseudocyst), parasitic (as hydatid) cysts and cystic part of a tumour (most frequent are neuroblastoma, ganglioneuroma, pheocromocytoma, and teratoma). The complications are: bleeding, local pressure effects; infection; rupture (including post-traumatic); arterial hypertension due to renal vessels compression...
2017: Clujul Medical (1957)
https://www.readbyqxmd.com/read/28091891/adrenal-teratoma-a-case-series-and-review-of-the-literature
#16
Eric J Kuo, Anthony E Sisk, Zhiming Yang, Jiaoti Huang, Michael W Yeh, Masha J Livhits
Adrenal teratomas are rare neoplasms and there is limited data on their surgical outcomes and long-term prognosis. We aimed to review our institutional experience and compare this to the existing literature on adrenal teratomas in adults and children. An institutional pathology database was searched for cases of adrenal teratoma (June 1956-July 2016). Clinical and imaging data were abstracted from the medical records and pathology slides were obtained for review. In addition, a PubMed search for "adrenal teratoma" from June 1952 to July 2016 was performed to identify reports of primary adrenal teratoma in patients of all ages...
June 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/27988912/clinical-characteristics-of-adrenal-tumors-in-children-a-retrospective-review-of-a-15-year-single-center-experience
#17
Xiaokun Lin, Dazhou Wu, Congde Chen, Na Zheng
OBJECTIVE: Adrenal tumors are rare in children. The aim of this study is to review and analyze clinical data on the diagnosis and management of adrenal tumors in children. METHODS: Between 2001 and 2015, 48 pediatric patients (<14 years old) admitted to our institute with adrenal tumors were reviewed. Clinical features, imaging studies, surgical approaches, as well as pathological diagnoses were recorded. RESULTS: The series comprised 28 males and 20 females...
March 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/27928434/adrenalectomy-for-cushing-s-syndrome-do-s-and-don-ts
#18
REVIEW
D N Paduraru, A Nica, M Carsote, A Valea
Aim. To present specific aspects of adrenalectomy for Cushing's syndrome (CS) by introducing well established aspects ("do's") and less known aspects ("don'ts"). Material and Method. This is a narrative review. Results. The "do's" for laparoscopic adrenalectomy (LA) are the following: it represents the "gold standard" for secretor and non-secretor adrenal tumors and the first line therapy for CS with an improvement of cardio-metabolic co-morbidities; the success rate depending on the adequate patients' selection and the surgeon's skills...
October 2016: Journal of Medicine and Life
https://www.readbyqxmd.com/read/27879325/cushing-syndrome-in-a-child-due-to-pro-opiomelanocortin-pomc-secretion-from-a-yolk-sac-tumor
#19
Evelien F Gevers, Suzanne Meredith, Pratik Shah, John Torpiano, Catherine Peters, Neil J Sebire, Olga Slater, Anne White, Mehul T Dattani
CONTEXT: Pituitary microadenomas and adrenal tumours are the most common causes for endogenous Cushing syndrome (CS) in children. CASE DESCRIPTION: We describe a two-year old girl with Cushing syndrome due to ectopic pro-opiomelanocortin (POMC) production from an abdominal yolk sac tumor. Cortisol concentrations were elevated but adrenocorticotropic hormone (ACTH) concentrations were equivocal. The use of antibodies specifically detecting ACTH precursors revealed that plasma ACTH precursors were elevated...
February 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27777905/etiology-and-therapeutic-outcomes-of-children-with-gonadotropin-independent-precocious-puberty
#20
Eungu Kang, Ja Hyang Cho, Jin-Ho Choi, Han-Wook Yoo
PURPOSE: This study was performed to investigate the etiology, clinical features, and outcomes of patients with gonadotropin-independent precocious puberty (GIPP). METHODS: The study included 16 patients (14 female and 2 male patients) who manifested secondary sexual characteristics, elevated sex hormones, or adrenal androgens with prepubertal luteinizing hormone levels after gonadotropin releasing hormone stimulation diagnosed between May 1994 and December 2015...
September 2016: Annals of Pediatric Endocrinology & Metabolism
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