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Infantile malignancies

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https://www.readbyqxmd.com/read/27889818/somatosensory-reflex-seizures-in-a-child-with-epilepsy-related-to-novel-scn1a-mutation
#1
Pinar Arican, Nihal Olgac Dundar, Dilek Cavusoglu, Taha Resid Ozdemır, Pinar Gencpinar
INTRODUCTION: Mutations in SCN1A have been reported in patients with different types of epilepsy, including generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy in infancy, malignant migrating partial seizures in infancy, and other infantile epileptic encephalopathies. CASE REPORT: We report a case of a 10-month-old girl presented with reflex epileptic seizures provoked by somatosensory stimuli with a novel de novo mutation of SCN1A gene. She was observed to have seizures with eye deviation, unresponsiveness provoked by somatosensory stimuli of the face...
November 26, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27775311/-infantile-hypertrofic-pyloric-stenosis-or-gastric-adenomyoma-differential-diagnosis-of-gastric-outlet-obstruction-in-children
#2
M Oviedo Gutiérrez, S Amat Valero, A Gómez Farpón, C Montalvo Ávalos, L Fernández García, D C Lara Cárdenas, S Barnes Marañón, C Granell Suárez, N Vega Mata, A J López López, M González Guerrero, V Álvarez Muñoz
PURPOSE: Gastrointestinal adenomyoma is a rare benign tumor most frequently located in the stomach. The differential diagnosis is wide because of its large clinical spectrum and unspecific radiological findings. Surgical excision is both diagnostic and therapeutic. CASE REPORT: A 49-days old girl presented with nonbilious vomiting of 48 hours of evolution. Infantile hypertrofic pyloric stenosis was suspected. Ultrasound showed a nonobstructive nodular lesion in the anterior pyloric wall...
July 20, 2015: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/27668845/desmoplastic-infantile-astrocytoma-and-ganglioglioma-case-report-and-review-of-the-literature
#3
Alaa Samkari, Faris Alzahrani, Abeer Almehdar, Hussein Algahtani
Desmoplastic infantile astrocytoma (DIA) is a rare, supratentorial, dural-based, large cystic tumor that usually arises in the first 24 months of life. However, non-infantile cases were also reported in the literature. Desmoplastic infantile astrocytoma and desmoplastic infantile ganglioglioma (DIG) are both classified as grade I astrocytoma by the World Health Organization (WHO). Grossly, DIA/DIG are large tumors composed of solid and cystic portions. Although large in nature, they are slow-growing tumors, with good prognosis after complete surgical removal, and rarely require a chemotherapy or radiotherapy...
September 26, 2016: Clinical Neuropathology
https://www.readbyqxmd.com/read/27659826/supratentorial-tumors-typical-of-the-infantile-age-desmoplastic-infantile-ganglioglioma-dig-and-astrocytoma-dia-a-review
#4
F Bianchi, G Tamburrini, L Massimi, M Caldarelli
OBJECT: Desmoplastic infantile gangliogliomas (DIGs) and desmoplastic infantile astrocytomas (DIAs) are tumors typical of the infantile age. A large size, with a mixed solid and cystic component, clinical presentation with progressing signs of increased intracranial pressure, a prominent benign desmoplastic structure at histological examination, and a favorable clinical course in the majority of cases are the prominent features of these tumors. The objective of the present paper was to review the pertinent literature on the topic together with our personal experience, with the aim of an updated review of the subject...
October 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27610342/history-of-the-infantile-hepatic-hemangioma-from-imaging-to-generating-a-differential-diagnosis
#5
REVIEW
Maria Gnarra, Gerald Behr, Alison Kitajewski, June K Wu, Sudha A Anupindi, Carrie J Shawber, Nick Zavras, Dimitrios Schizas, Chris Salakos, Konstantinos P Economopoulos
We aim to provide an up-to-date summary of infantile hepatic hemangioma (IHH) and its misnomers and to dialectically present the differential diagnosis of these rare entities of the liver. Eligible peer-reviewed articles on hepatic infantile hemangiomas, published between 2000 and 2015, were reviewed for this study. IHH is the most common hepatic vascular tumor in children. Once a liver mass is identified in an infant, the differential diagnosis ranges from vascular malformations to benign and malignant tumors including mesenchymal hamartoma, hepatoblastoma, metastatic neuroblastoma, so careful physical examination, imaging studies, and, if indicated, tumor markers and biopsy, are of pivotal importance to ascertain the correct diagnosis...
August 8, 2016: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/27607326/vascular-anomalies-differential-diagnosis-and-mimickers
#6
Maria C Garzon, Nicole Weitz, Julie Powell
Vascular anomalies are very common in children and encompass a wide spectrum of diseases. Many vascular anomalies can be mistaken for infantile hemangioma (IH). In addition, there is a variety of rare disorders including benign and malignant tumors that may mimic IH and other types of vascular anomalies. Understanding the clinical features, natural history, and typical clinical course of different types of vascular anomalies is essential in order to make the correct diagnosis and guide management. Radiologic imaging plays an important role in establishing the diagnosis; and when the diagnosis remains in doubt, a biopsy performed by a surgical specialist with expertise may prove to be lifesaving...
September 2016: Seminars in Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/27541021/regulation-and-function-of-lentiviral-vector-mediated-tcirg1-expression-in-osteoclasts-from-patients-with-infantile-malignant-osteopetrosis-implications-for-gene-therapy
#7
Christian Schneider Thudium, Ilana Moscatelli, Henrik Löfvall, Zsuzsanna Kertész, Carmen Montano, Carmen Flores Bjurström, Morten Asser Karsdal, Ansgar Schulz, Johan Richter, Kim Henriksen
Infantile malignant osteopetrosis (IMO) is a rare, recessive disorder characterized by increased bone mass caused by dysfunctional osteoclasts. The disease is most often caused by mutations in the TCIRG1 gene encoding a subunit of the V-ATPase involved in the osteoclasts capacity to resorb bone. We previously showed that osteoclast function can be restored by lentiviral vector-mediated expression of TCIRG1, but the exact threshold for restoration of resorption as well as the cellular response to vector-mediated TCIRG1 expression is unknown...
August 19, 2016: Calcified Tissue International
https://www.readbyqxmd.com/read/27450977/successful-use-of-dose-dense-neoadjuvant-chemotherapy-and-sodium-valproate-with-minimal-toxicity-in-an-infant-with-medulloblastoma-in-extremely-poor-general-condition
#8
Ajay Gupta, Amit Kumar, Andaleeb Abrari, Rana Patir, Sandeep Vaishya
BACKGROUND: Medulloblastoma is the most common malignant brain tumor in children. Infants are in the high-risk category. Complete surgical resection is the single most important determinant of prognosis and survival in nonmetastatic disease. Infants with large primaries after incomplete resection/biopsy and poor general condition have bad prognosis. They are considered poor candidates for intensive chemotherapy involving high dose methotrexate/autologous stem cell transplantation as they are often unable to tolerate these aggressive regimens...
September 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27399243/pediatric-fibroblastic-and-myofibroblastic-tumors-a-pictorial-review
#9
Kiran M Sargar, Elizabeth F Sheybani, Archana Shenoy, John Aranake-Chrisinger, Geetika Khanna
Pediatric fibroblastic and myofibroblastic tumors are a relatively common group of soft-tissue proliferations that are associated with a wide spectrum of clinical behavior. These tumors have been divided into the following categories on the basis of their biologic behavior: benign (eg, myositis ossificans, myofibroma, fibromatosis colli), intermediate-locally aggressive (eg, lipofibromatosis, desmoid fibroma), intermediate-rarely metastasizing (eg, inflammatory myofibroblastic tumors, infantile fibrosarcoma, low-grade myofibroblastic sarcoma), and malignant (eg, fibromyxoid sarcoma, adult fibrosarcoma)...
July 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27373934/intracranial-infantile-myofibromatosis-mimicking-malignant-brain-tumor-a-case-report-and-literature-review
#10
Mizuho Inoue, Shota Tanaka, Hirofumi Nakatomi, Shunsaku Takayanagi, Miwako Takahashi, Mariko Tanaka, Toshimitsu Momose, Akitake Mukasa, Nobuhito Saito
BACKGROUND: Myofibroma is a fibrous tumor of infancy that sometimes affects a single patient in a multiple fashion (infantile myofibromatosis). Its intracranial involvement is extremely rare, and its clinical picture has been poorly characterized. Here we report an interesting case of myofibromatosis with an intracranial lesion that behaved like an aggressive tumor and yet demonstrated very benign pathology. CASE DESCRIPTION: A 36-year-old man had never been diagnosed with infantile myofibromatosis despite his lifelong history of multiple tumors of various diagnoses...
September 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27343960/diseases-of-the-tongue
#11
Aaron R Mangold, Rochelle R Torgerson, Roy S Rogers
The tongue is a complex organ involved in speech and expression as well as in gustation, mastication, and deglutition. The oral cavity, along with the tongue, are sites of neoplasms, reactive processes, and infections, and may be a harbinger of systemic diseases. This review includes both common and rare diseases that occur on the tongue, including: vascular and lymphatic lesions (infantile hemangiomas and oral varices), reactive and inflammatory processes (hairy tongue, pigmented fungiform papillae of the tongue, benign migratory glossitis, and fissured tongue), infections (oral hairy leukoplakia, herpes simplex and varicella-zoster virus infections, human papillomavirus, and candidiasis), premalignant lesions (leukoplakia and erythroplakia), malignant lesions (squamous cell carcinoma, Kaposi sarcoma, and lymphoproliferative diseases), and signs of systemic disease (nutritional deficiency and systemic amyloidosis)...
July 2016: Clinics in Dermatology
https://www.readbyqxmd.com/read/27311781/beyond-infections-tumors-and-malformations-of-the-diaper-area
#12
REVIEW
Alfons Krol
BACKGROUND: While most common diaper-related conditions are easily resolved, the diaper region may be the site of a variety of tumors (either benign or malignant) and other abnormalities that may require completely unique treatment approaches. OBJECTIVES: This review sought to catalogue the various conditions and complications that may arise in the diaper area during the first few years of life. METHODS: To identify studies included in this review, computerized searches were undertaken in the PubMed and Medline databases using the term tumors of the diaper region with the following terms: tumors, malformations, diaper region, and infant...
July 2016: International Journal of Dermatology
https://www.readbyqxmd.com/read/27300205/genotype-phenotype-analysis-of-pediatric-patients-with-wt1-glomerulopathy
#13
Yo Han Ahn, Eu Jin Park, Hee Gyung Kang, Seong Heon Kim, Hee Yeon Cho, Jae Il Shin, Joo Hoon Lee, Young Seo Park, Kyo Sun Kim, Il-Soo Ha, Hae Il Cheong
BACKGROUND: WT1 is one of the genes commonly reported as mutated in children with steroid-resistant nephrotic syndrome (SRNS). We analyzed genotype-phenotype correlations in pediatric SRNS patients with WT1 mutations. METHODS: From 2001 to 2015, WT1 mutations were detected in 21 out of 354 children with SRNS by genetic screening (5.9 %). The patients were grouped into missense (n = 11) and KTS splicing (n = 10) mutation groups. RESULTS: Nine (82 %) patients with missense mutations presented with congenital/infantile nephrotic syndrome, while 8 (80 %) with KTS splicing mutations presented with childhood-onset SRNS...
June 14, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/27187610/the-use-of-whole-exome-sequencing-for-the-diagnosis-of-autosomal-recessive-malignant-infantile-osteopetrosis
#14
Oded Shamriz, Avraham Shaag, Barak Yaacov, Adeeb Naser Eddin, Michael Weintraub, Orly Elpeleg, Polina Stepensky
No abstract text is available yet for this article.
May 17, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27130463/liver-transplantation-for-hepatobiliary-malignancies-a-new-era-of-transplant-oncology-has-begun
#15
Taizo Hibi, Osamu Itano, Masahiro Shinoda, Yuko Kitagawa
The indications of liver transplantation for hepatobiliary malignancies have been carefully expanded in a stepwise fashion, despite the fundamental limitations in oncological, immunological, and technical aspects. A new era of "Transplant Oncology," the fusion of transplant surgery and surgical oncology, has begun, and we stand at the dawn of a paradigm shift in multidisciplinary cancer treatment. For hepatocellular carcinoma, new strategies have been undertaken to select recipients based on biological and dynamic markers instead of conventional morphological and static parameters, opening the doors for a more deliberate expansion of the Milan criteria and locoregional therapies before liver transplantation...
April 29, 2016: Surgery Today
https://www.readbyqxmd.com/read/27128515/hypercalcemia-of-malignancy-in-a-newborn-with-infantile-fibrosarcoma
#16
Sungeeta Agrawal, Lisa Swartz Topor
No abstract text is available yet for this article.
2016: Rhode Island Medical Journal
https://www.readbyqxmd.com/read/27110421/neonatal-abdominal-hemangiomatosis-propranolol-beyond-infantile-hemangioma
#17
Siu Ying Angel Nip, Kam Lun Hon, Wing Kwan Alex Leung, Alexander K C Leung, Paul C L Choi
Hemangioma is the most common vascular tumor of infancy; presentation is often as cutaneous infantile hemangioma (IH). Cutaneous hemangioma is a clinical diagnosis. Most IHs follow a benign course, with complete involution without treatment in the majority of cases. Visceral hemangioma often involves the liver and manifests as a life-threatening disorder. Hepatic hemangiomas may be associated with high output cardiac failure, coagulopathy, and hepatomegaly which generally develop between 1 and 16 weeks of age...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27029747/tailored-therapy-and-long-term-surveillance-of-malignant-germ-cell-tumors-in-the-female-genital-system-10-year-experience
#18
Qianying Zhao, Jiaxin Yang, Dongyan Cao, Jiangna Han, Kaifeng Xu, Yongjian Liu, Keng Shen
OBJECTIVE: To explore the appropriate treatment of malignant germ cell tumor (MGCT) in the female genital system, and to analyze the factors influencing both therapeutic response and survival outcome. METHODS: A cohort of 230-Chinese women diagnosed with MGCT of the genital system was retrospectively reviewed and prospectively followed. The demographic and pathological features, extent of disease and surgery, treatment efficiency, recurrence and survival were analyzed...
May 2016: Journal of Gynecologic Oncology
https://www.readbyqxmd.com/read/27020699/intraplacental-choriocarcinoma-systematic-review-and-management-guidance
#19
REVIEW
L Jiao, E Ghorani, N J Sebire, M J Seckl
BACKGROUND: Intraplacental choriocarcinoma (IC) is a rare form of malignant gestational trophoblastic disease (GTD). We present a review of 62 cases, including four previously unreported, and a suggested management algorithm. PATIENTS AND METHODS: IC cases and clinical data were identified within the Charing Cross Hospital (CXH) national GTD database (1986-2014) and by systematic literature search (1949-2014). RESULTS: 62 cases were identified including eight from CXH representing 0...
June 2016: Gynecologic Oncology
https://www.readbyqxmd.com/read/27017359/-malignant-infantile-osteopetrosis-revealed-by-choanal-atresia-a-case-report
#20
I D Ba, A Ba, A Thiongane, A Ly/Ba, M Ba, M Fattah, P M Faye, D F Cissé, F N Diouf
Malignant infantile osteopetrosis is a rare genetic disease characterized by increased bone density due to osteoclastic dysfunction. We report on the case of a 3-month-old girl who was referred to our hospital by the ENT department for severe anemia in the context of bilateral choanal atresia. Clinical examination showed failure to thrive, anemia, respiratory distress, bilateral choanal atresia, and chest deformation. The abdomen was soft with large hepatosplenomegaly. We noted a lack of eye tracking, no optical-visual reflexes, and left nerve facial paralysis...
May 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
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