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https://www.readbyqxmd.com/read/29696040/adrenal-ganglioneuroblastoma-in-an-adult-a-rare-case-report
#1
Zahra Heidari, Mahmoud Ali Kaykhaei, Mahdi Jahantigh, Vahid Sheikhi
Ganglioneuroblastoma is a primary malignant tumor of the sympathetic nervous system. It usually occurs in children and is extremely rare in adults. Here, we report a case of an adrenal ganglioneuroblastoma in a 38-year-old man. The adrenal incidentaloma was surgically removed and pathologically diagnosed as a ganglioneuroblastoma. The characteristics were described, because it is an unusual tumor based on the published reports in adults. To the best of our knowledge, fewer than 50 cases of ganglioneuroblastoma and 19 cases of adrenal ganglioneuroblastoma, including this case, are reported in the literature...
January 2018: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29662268/a-pediatric-case-of-pheochromocytoma-without-apparent-hypertension-associated-with-von-hippel-lindau-disease
#2
Junko Igaki, Akira Nishi, Takeshi Sato, Tomonobu Hasegawa
Pheochromocytomas are catecholamine-secreting tumors. These tumors are rare in children, and they may be associated with hereditary syndromes such as von Hippel-Lindau (VHL) disease. Most pediatric patients with pheochromocytoma present with sustained hypertension, while 10% to 69% of adult patients are asymptomatic. Herein, we present the case of a 12-yr-old Japanese girl with pheochromocytoma due to a germline mutation in the VHL (Arg161Gln). The only complaint was loss of weight. Pyrexia, anemia, and increases in C-reactive protein (CRP) and ferritin were observed...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29606119/invasive-meningococcal-disease-due-to-a-non-capsulated-neisseria-meningitidis-strain-in-a-patient-with-igg4-related-disease
#3
Shun Kurose, Kyoko Onozawa, Hiroshi Yoshikawa, Kenichiro Yaita, Hideyuki Takahashi, Nobuyuki Shimono, Yoji Nagasaki
BACKGROUND: Invasive Meningococcal Disease (IMD) is a rare and critical disease in Japan. Most of these cases are caused by capsulated Neisseria meningitidis strains. Non-capsulated (non-typable) strains are considered relatively low-pathogenic and can colonize in the nasopharynx of healthy children and young adults. As far as could be ascertained, only twelve IMD cases due to non-capsulated strains have been reported in the literature. No clear risk factors could be identified in a literature review (unknown or immunocompetent, seven cases; C6 deficiency, three cases)...
April 2, 2018: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29551244/surgical-outcomes-of-patients-with-beckwith-wiedemann-syndrome
#4
Candace C Style, Stephanie M Cruz, Patricio E Lau, Timothy C Lee, David E Wesson, Oluyinka O Olutoye
PURPOSE: The purpose of this study was to evaluate treatment and surgical outcomes of patients of Beckwith-Wiedemann Syndrome (BWS) treated at a tertiary children's hospital. METHODS: A retrospective review of infants evaluated at Texas Children's Hospital for BWS from August 2000 to December 2016 was performed. Data collected included demographic information, clinical presentation, genetic evaluation, fetal imaging, operative treatment, and outcomes. RESULTS: Forty-seven children with a diagnosis of BWS were identified...
February 12, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29531157/testicular-adrenal-rest-tumors-in-boys-with-21-hydroxylase-deficiency-timely-diagnosis-and-follow-up
#5
Mirjana Kocova, Vesna Janevska, Violeta Anastasovska
BACKGROUND: Testicular adrenal rest tumors (TARTs) are found in 30-94% of adult males with congenital adrenal hyperplasia (CAH). We sought to explore TART appearance through yearly ultrasound examination of testes in young boys with CAH, and its association with metabolic control and genetic mutations. METHODS: Twenty-five boys with 21-hydroxylase deficiency in the age group 4-18 years diagnosed during the period 2001-2016 were included in the study. ACTH, 17-hydroxyprogesterone, androstenedione and testosterone were measured at 4-month intervals...
April 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29525066/-diffuse-hypertrichosis-revealing-non-classical-congenital-adrenal-hyperplasia
#6
C Berthin, P Sibilia, J Martins-Hericher, A Donzeau, L Martin
BACKGROUND: Non-classical congenital adrenal hyperplasia (NC-CAH) is a recessive autosomal disease caused by a deficiency of adrenal steroidogenesis enzymes. It must be distinguished from classical CAH, either simple virilising or salt-wasting, diagnosed during the neonatal period and responsible for potentially lethal disorders of sexual differentiation. NC-CAH presents a simpler and less specific clinical picture. Herein, we present two cases comprising twin girls consulting for diffuse hypertrichosis...
April 2018: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29390274/a-highly-malignant-case-of-neuroblastoma-with-substantial-increase-of-single-nucleotide-variants-and-normal-mismatch-repair-system-a-case-report
#7
Lin-Qing Yuan, Jin-Hu Wang, Kun Zhu, Min Yang, Wei-Zhong Gu, Can Lai, Hao-Min Li, Qiang Shu, Xi Chen
RATIONALE: Neuroblastoma is a common abdominal malignancy in children. The chemoresistant and relapsed cases have poor prognosis. The genetic background and the mechanism of resistance remain unelucidated. Next-generation sequence (NGS) is becoming a popular tool to unravel the genetic background and to guide precision medicine in oncology studies as well as in clinical practice. PATIENT CONCERNS: Here we report a neuroblastoma case of a boy aged 2 years and 8 months when first diagnosed, with multiple metastatic sites found in both lungs...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29339528/gonadal-function-in-adult-male-patients-with-congenital-adrenal-hyperplasia
#8
M Engels, K Gehrmann, H Falhammar, E A Webb, A Nordenström, F C Sweep, P N Span, A E van Herwaarden, J Rohayem, A Richter-Unruh, C Bouvattier, B Köhler, B B Kortmann, W Arlt, N Roeleveld, N Reisch, N M M L Stikkelbroeck, H L Claahsen-van der Grinten
CONTEXT: Current knowledge on gonadal function in congenital adrenal hyperplasia (CAH) is mostly limited to single-center/country studies enrolling small patient numbers. Overall data indicate that gonadal function can be compromised in men with CAH. OBJECTIVE: To determine gonadal function in men with CAH within the European 'dsd-LIFE' cohort. DESIGN: Cross-sectional clinical outcome study, including retrospective data from medical records...
March 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29288372/robotic-assisted-laparoscopic-surgery-for-pediatric-tumors-a-bicenter-experience
#9
P Meignan, Q Ballouhey, J Lejeune, K Braik, B Longis, A R Cook, H Lardy, L Fourcade, Aurélien Binet
Mini-invasive surgery is more and more integrated in pediatric surgery. The robotic-assisted surgery brought new advantages from which the patient and the surgeon could benefit compared to laparoscopy. Its use in oncological surgery is still controversial. 12 robotic-assisted tumor resections with the da Vinci Surgical Robot (Intuitive Surgical, Sunnyvale, CA) were attempted in 11 children (mean age 7.65 years; age range 0.75-16.75 years; mean weight 30.3 kg; weight range 8.6-62 kg) in two centers. Mean total operative time was 145 min (range 72-263 min)...
December 29, 2017: Journal of Robotic Surgery
https://www.readbyqxmd.com/read/29200669/adrenal-mass-unusual-presentation-and-outcome
#10
Raghu Sampally Ramareddy, Anand Alladi
Aim: Adrenal mass may be functioning or nonfunctioning with varied clinical presentations. This study aimed to report the nature and management of uncommon adrenal mass and to review literature. Materials and Methods: This was an retrospective observational analysis of children with uncommon adrenal mass admitted during 2009-2015. Clinical features, investigations, and management of patients were analyzed. Results: Among six, two each were adolescent and neonate, and one each was young infant and prenatal...
July 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/29164568/cystic-hygroma-of-the-neck-single-center-experience-and-literature-review
#11
C Damaskos, N Garmpis, M Manousi, A Garmpi, G-A Margonis, E Spartalis, C Doula, C Michail-Strantzia, N Patelis, D Schizas, P-T Arkoumanis, N Andreatos, G Tsourouflis, N Zavras, K Markatos, K Kontzoglou, E A Antoniou
OBJECTIVE: Malformations of the lymphatic system are recognized as benign congenital tumors that affect infant and children in the perinatal era. In children, these abnormalities usually found in the neck and the axillary region, but they can present in other parts of the body such as mediastinum, pelvis, retroperitoneum as well as in solid organs (e.g., adrenal glands, pancreas, stomach). Our aim is to report our experience on cystic hygromas via two cases and review the literature. MATERIALS AND METHODS: Herein we present two cases of cystic hygroma, the first of female children and the second of a female adult patient respectively...
November 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29067922/primary-adrenal-teratoma-an-unusual-tumor-challenges-in-diagnosis-and-surgical-management
#12
P Ramakant, C Rana, K R Singh, A Mishra
We report a rare case of a 25-year-old lady who presented with right hypochondriac pain associated with weakness for 3 months. Her hormonal evaluation was normal. Computed tomography scan revealed an adrenal mass for which a right open transperitoneal adrenalectomy was performed, and the lesion was diagnosed as mature teratoma on histopathological examination. Teratoma is an unusual neoplasm which arises from one or all the three germ layers. Extragonadal teratomas are rare in adults as compared to children and are mostly retroperitoneal in location, constituting only 4% of all primary teratomas...
October 23, 2017: Journal of Postgraduate Medicine
https://www.readbyqxmd.com/read/29062578/immune-thrombocytopenia-in-a-child-with-neuroblastoma
#13
Hasan Tarkan Ikizoglu, Inci Ayan, Fatma Tokat, Tulay Tecimer, Gonca Topuzlu Tekant
Thrombocytopenia is a frequent finding in patients with solid tumors. It is usually caused by bone marrow infiltration or by myelosuppression due to anticancer therapy; however immune thrombocytopenia (ITP) associated with solid tumors is rare. Neuroblastoma is the most common extracranial solid tumor in children. Here we report the case of a two-year-nine-month-old patient with adrenal neuroblastoma who presented with ITP. Paraneoplastic ITP was considered in the differential diagnosis. Bone marrow infiltration and other causes of thrombocytopenia were excluded and the patient was treated with intravenous immunoglobulin and tumor resection...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29058015/wnt-signaling-the-development-of-the-sympathoadrenal-paraganglionic-system-and-neuroblastoma
#14
REVIEW
Jürgen Becker, Jörg Wilting
Neuroblastoma (NB) is a tumor of the sympathoadrenal system arising in children under 15 years of age. In Germany, NB accounts for 7% of childhood cancer cases, but 11% of cancer deaths. It originates from highly migratory progenitor cells that leave the dorsal neural tube and contribute neurons and glial cells to sympathetic ganglia, and chromaffin and supportive cells to the adrenal medulla and paraganglia. Clinically, histologically and molecularly, NBs present as extremely heterogeneous, ranging from very good to very poor prognosis...
March 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28943972/small-non-coding-rna-abundance-in-adrenocortical-carcinoma-a-footprint-of-a-rare-cancer
#15
Srinivas V Koduru, Ashley N Leberfinger, Dino J Ravnic
BACKGROUND: Adrenocortical carcinoma (ACC) is a relatively rare, but aggressive type of cancer, which affects both children and adults. OBJECTIVE: Small non-coding RNAs (sncRNAs) play important roles and may serve as biomarkers for disease diagnosis, prognosis and treatment. METHODS: In our study, we sought to identify sncRNAs associated with malignant adrenal tumors. We obtained publicly available, small RNA sequencing data derived from 45 ACC and 30 benign tumors arising from the cortex of the adrenal gland, adrenocortical adenomas (ACA), and compared their sncRNA expression profiles...
2017: Journal of Genomics
https://www.readbyqxmd.com/read/28730220/verner-morrison-syndrome-literature-review
#16
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
#17
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
#18
Adina F Turcu, Ashwini Mallappa, Meredith S Elman, Nilo A Avila, Jamie Marko, Hamsini Rao, Alexander Tsodikov, Richard J Auchus, Deborah P Merke
Context: Patients with 21-hydroxylase deficiency (21OHD) have long-term complications, resulting from poor disease control and/or glucocorticoid overtreatment. Lack of optimal biomarkers has made it challenging to tailor therapy and 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 years (median, 15 years), seen in a tertiary referral center...
August 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
#19
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
#20
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
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