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Infantile malignancies

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https://www.readbyqxmd.com/read/29768355/infantile-medulloepithelioma-in-the-lateral-ventricle-and-cerebellopontine-angle-two-case-reports
#1
Qiang Li, Ni Chen, Yan Ju
RATIONALE: Intracranial medulloepitheliomas are extremely rare and highly malignant. Intraventricular medulloepitheliomas are even rarely reported, and little is known about the clinical features. PATIENT CONCERNS: In this article, we report two cases of intracranial medulloepitheliomas. In the first patient, a one-month old boy, the tumor was located in in right lateral ventricle, which was the first report of such location of this disease; in the second patient, an eleven-month old girl, the tumor was in right cerebellopontine angle...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29730165/impact-of-hematopoietic-stem-cell-transplant-on-vep-and-abr-values-of-the-patients-with-malignant-infantile-osteopetrosis
#2
Reza Shervin Badv, S Sharareh Dehghani, Maryam Behfar, Batoul Ahadi, Abdolreza Tabasi, Amir Ali Hamidieh
OBJECTIVES: Malignant Infantile Osteopetrosis (MIOP) is a rare inherited disorder with neurological complications, notably visual impairment and decrease of hearing level. Although Hematopoietic Stem Cell Transplantation (HSCT) has been approved as the only curative treatment for these patients, the exact impact of it on visual and hearing level is still unclear. STUDY DESIGN: We analyzed the P2 latency and amplitude from Visual Evoked Potentials (VEP) of 10 patients (20 eyes) and the threshold of wave V from Auditory Brainstem Response (ABR) of 15 patients (30 ears) with MIOP before, 6 and 12 months after HSCT...
April 18, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29723947/-identification-of-new-mutations-in-tcirg1-as-a-cause-of-infantile-malignant-osteopetrosis-in-two-mexican-patients
#3
Claudia Hernández-Martínez, Mara Noemí Guzmán-Martínez, Selma Scheffler-Mendoza, Sara Elva Espinosa-Padilla, Cristina Sobacchi, Lizbeth Blancas-Galicia
BACKGROUND: Osteopetrosis is a heterogeneous group of diseases that are characterized by increased bone density due to abnormalities in osteoclast differentiation or function, which result in a lack of bone resorption. CASE REPORTS: Two patients with osteopetrosis onset since the first months of life, with facial dysmorphia, blindness, deafness, hepatosplenomegaly, hypotonia, neurodevelopmental retardation and bicytopenia. Bone radiographs showed osteosclerosis...
January 2018: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/29652875/evaluation-of-recurrence-of-musculoskeletal-tumors-with-thallium-201-scintigraphy-plus-spect-ct-in-pediatric-population
#4
Sevastián S Medina-Ornelas, Herlinda Vera-Hermosillo, Rafael Delgado-Espín, Francisco O García-Pérez
Background: Imaging studies, particularly simple and contrast-enhanced tomography, constitute the first diagnostic approach to detect recurrence of musculoskeletal tumors. The aim of the present retrospective study was to demonstrate the usefulness of scintigraphy plus SPECT/CT (single photon emission computed tomography) with thallium-201 (201 Tl) in the evaluation of malignant musculoskeletal tumors with suspicion of recurrence or metastatic disease. Methods: Eight weeks after the last therapy, 72 scintigraphy and SPECT/CT studies were performed to assess regional recurrence and metastatic disease in 42 patients with different types of malignant musculoskeletal tumors, such as osteosarcoma, Ewing's sarcoma, rhabdomyosarcoma, retinoblastoma, synovial sarcoma, and Wilms tumor at the Hospital Infantil de México Federico Gómez...
2018: Boletín Médico del Hospital Infantil de México
https://www.readbyqxmd.com/read/29615178/unusual-presentation-of-fibrosarcoma-in-a-child
#5
Afshan Fayyaz, Chaudhry Aqeel Safdar
Malignant soft tissue tumours are rare in infants. Specific radiologic features help differentiate benign from malignant musculoskeletal entities. We report a case of malignant soft tissue tumour with initial radiologic evaluation suggesting a benign entity, thus delaying diagnosis. The case was treated as a case of cystic hygroma, suggested by ultrasound and MRI with good initial response to bleomycin injection. Later, symptoms recurred with poor response to repeat therapy which led to review the diagnosis...
April 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29606586/larotrectinib-for-paediatric-solid-tumours-harbouring-ntrk-gene-fusions-phase-1-results-from-a-multicentre-open-label-phase-1-2-study
#6
Theodore W Laetsch, Steven G DuBois, Leo Mascarenhas, Brian Turpin, Noah Federman, Catherine M Albert, Ramamoorthy Nagasubramanian, Jessica L Davis, Erin Rudzinski, Angela M Feraco, Brian B Tuch, Kevin T Ebata, Mark Reynolds, Steven Smith, Scott Cruickshank, Michael C Cox, Alberto S Pappo, Douglas S Hawkins
BACKGROUND: Gene fusions involving NTRK1, NTRK2, or NTRK3 (TRK fusions) are found in a broad range of paediatric and adult malignancies. Larotrectinib, a highly selective small-molecule inhibitor of the TRK kinases, had shown activity in preclinical models and in adults with tumours harbouring TRK fusions. This study aimed to assess the safety of larotrectinib in paediatric patients. METHODS: This multicentre, open-label, phase 1/2 study was done at eight sites in the USA and enrolled infants, children, and adolescents aged 1 month to 21 years with locally advanced or metastatic solid tumours or CNS tumours that had relapsed, progressed, or were non-responsive to available therapies regardless of TRK fusion status; had a Karnofsky (≥16 years of age) or Lansky (<16 years of age) performance status score of 50 or more, adequate organ function, and full recovery from the acute toxic effects of all previous anticancer therapy...
March 29, 2018: Lancet Oncology
https://www.readbyqxmd.com/read/29574530/cutaneous-metastases-of-infantile-choriocarcinoma-can-mimic-infantile-hemangioma-both-clinically-and-radiographically
#7
Logan R Dance, Apurvi R Patel, Mittun C Patel, Patricia Cornejo, Cory M Pfeifer
Infantile metastatic choriocarcinoma is a rare tumor of placental origin that can be observed with or without maternal metastases. A single cutaneous mass may be the only clinically observed sign. Reports of imaging findings are scarce given the extreme rarity of the tumor, and the disease can be rapidly fatal in the absence of prompt diagnosis. In order to promote timely consideration for this malignancy as a differential consideration in the approach to skin lesions in infancy, we present the findings of this neoplasm in an infant...
March 24, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29546798/metastatic-choriocarcinoma-masquerading-as-a-congenital-glabellar-hemangioma
#8
Steve Taylor, Kimberly Eisenstein, Vanessa Gildenstern, Harper Price, Pooja Hingorani, Apurvi Patel, Nathan Page, Smita Bailey, David Carpentieri
Infantile choriocarcinoma (ICC) is a rare, highly malignant form of gestational trophoblastic neoplasia. Rapid diagnosis and initiation of treatment are paramount in reaching a successful outcome. Patients with these tumors typically present with a triad of anemia, hepatomegaly, and precocious puberty. Cutaneous manifestations of ICC are extraordinarily rare with few documented cases. Here, we describe a male neonate who presented to our Dermatology clinic with a rapidly growing, markedly vascular glabellar mass associated with abnormal laboratory values suggestive of Kasabach-Merritt phenomenon...
January 1, 2018: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29469225/successful-hematopoietic-stem-cell-transplantation-for-osteopetrosis-using-reduced-intensity-conditioning
#9
Bella Shadur, Irina Zaidman, Adeeb NaserEddin, Elana Lokshin, Fatma Hussein, Hodaya Cohen Oron, Batia Avni, Sigal Grisariu, Polina Stepensky
BACKGROUND: Infantile malignant osteopetrosis (IMO) is an autosomal recessive condition characterized by defective osteoclast activity, with hematopoietic bone marrow transplant being the only available cure. Over the past several years, new conditioning regimes and donor options have emerged, thus extending the possibility of cure to a greater number of patients and improving the outcomes of bone marrow transplant. Here we detail the outcomes of bone marrow transplant in a cohort of 31 patients treated with a combination of fludarabine, treosulphan, thiotepa, and antithymocyte globulin...
June 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29342031/adenocarcinoma-of-pigmented-ciliary-epithelium-in-a-child-with-aicardi-syndrome-and-congenital-microphthalmia-with-cyst
#10
Jennifer Lira, Duncan E Berry, Christopher L Weller, Alan D Proia, Ilya M Leyngold
A 5-year-old girl with Aicardi syndrome and microphthalmia with cyst of the OD presented with progressive enlargement of the cyst causing pain. Microophthalmia with inferior cyst (35 × 25 × 12 mm) was noted at birth, and Aicardi syndrome was diagnosed at 10 months by the presence of the classic triad of callosal agenesis, infantile spasms, and chorioretinal lacunae. She underwent enucleation with cyst resection, and subsequent reconstruction with a dermis fat graft. Histopathologic study revealed adenocarcinoma of the pigmented ciliary epithelium...
January 16, 2018: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29237407/identification-and-in-silico-characterization-of-a-novel-p-p208pfsx1-mutation-in-v-atpase-a3-subunit-associated-with-autosomal-recessive-osteopetrosis-in-a-pakistani-family
#11
Muhammad Ajmal, Asif Mir, Sughra Wahid, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi, Mehran Kauser, Salman Akbar Malik, Muhammad Nasir
BACKGROUND: Osteopetrosis is a rare inherited bone disorder mainly described as an increased bone density caused by defective osteoclastic bone resorption. To date, genetic variants of eleven genes have been reported so far to be associated with different types of osteopetrosis. However, malignant infantile osteopetrosis, a lethal form of the disease, is mostly (50%) caused by mutation(s) in TCIRG1 gene. In this study, we investigated a consanguineous Pakistani family clinically and genetically to elucidate underlying molecular basis of the infantile osteopetrosis...
December 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29159525/hepatic-tumors-of-vascular-origin-imaging-appearances
#12
Eric C Ehman, Michael S Torbenson, Michael L Wells, Brian T Welch, Scott M Thompson, Ishan Garg, Sudhakar K Venkatesh
A number of benign and malignant neoplasms may arise from the vascular elements within the liver parenchyma. Lesions discussed in this article include angiosarcoma, epithelioid hemangioendothelioma, solitary fibrous tumor (hemangiopericytoma), infantile, and cavernous hemangiomas. Despite a common theme of vascular origin, the pathologic and imaging appearance of these entities can be heterogeneous. Angiosarcomas are bizarrely enhancing, highly aggressive tumors, which often present with metastatic disease...
November 20, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/29136501/pontine-infantile-glioma-simplified
#13
Vijay Ramaswamy, Michael D Taylor
In this issue of Cancer Cell, Pathania et al. report sporadic childhood histone K27M mutant malignant glioma mouse models that faithfully recapitulate the human tumor phenotypes. Beyond emphasizing the importance of correct timing in mouse modeling of cancer, these models will facilitate research to effectively treat this lethal childhood cancer.
November 13, 2017: Cancer Cell
https://www.readbyqxmd.com/read/29090071/a-novel-mutation-in-snx10-gene-causes-malignant-infantile-osteopetrosis
#14
Akbar Amirfiroozy, Amir A Hamidieh, Zahra Golchehre, Azim Rezamand, Mahin Yahyaei, Fatemeh Beiranvandi, Soheyla Amirfiroozy, Mohammad Keramatipour
BACKGROUND: Osteopetrosis is a group of genetically heterogonous diseases and the main feature of that is increased bone density due to osteoclast's abnormality. It has three clinical forms based on inheritance pattern, severity and age of onset: the dominant benign form (ADO), the intermediate form (IRO) and the recessive severe form (ARO). One of the recently discovered genes for ARO form is SNX10 that accounts for 4% of affected persons by this type. METHODS: In this paper, a 15 years old girl affected by osteopetrosis has been analyzed for detecting causal mutation in known osteopetrosis genes...
October 2017: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/29019747/masses-of-the-nose-nasal-cavity-and-nasopharynx-in-children
#15
REVIEW
Diana P Rodriguez, Emily S Orscheln, Bernadette L Koch
A wide range of masses develop in the nose, nasal cavity, and nasopharynx in children. These lesions may arise from the nasal ala or other structures of the nose, including the mucosa covering any surface of the nasal cavity, the cartilaginous or osseous portion of the nasal septum, the nasal turbinates, and the nasal bones. Lesions may also arise from the nasopharynx or adjacent structures and involve the nose by way of direct extension. The causes of nasal masses in children include congenital and developmental disorders such as congenital nasolacrimal duct mucocele, dermoid cyst, cephalocele, and nasal neuroglial heterotopia; inflammatory and infectious processes such as mucocele, polyp, and pyogenic granuloma; benign neoplasms such as infantile hemangioma and juvenile nasopharyngeal angiofibroma; malignant lesions such as rhabdomyosarcoma and nasopharyngeal carcinoma; and masses related to prior trauma such as septal hematoma...
October 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28987752/three-cases-of-kcnt1-mutations-malignant-migrating-partial-seizures-in-infancy-with-massive-systemic-to-pulmonary-collateral-arteries
#16
Yuki Kawasaki, Ichiro Kuki, Eiji Ehara, Yosuke Murakami, Shin Okazaki, Hisashi Kawawaki, Munetsugu Hara, Yoriko Watanabe, Shintaro Kishimoto, Kenji Suda, Hirotomo Saitsu, Naomichi Matsumoto
KCNT1 mutations are gain-of-function mutations in potassium channels resulting in severe infantile epilepsy. Herein we describe 3 infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries with life-threatening hemoptysis and heart failure.
December 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28928594/anesthesia-management-of-a-child-with-osteopetrosis
#17
Hashem Jarineshin, Fereydoon Fekrat, Mehdi Feiz Dowlat Abadi
Osteopetrosis is a rare genetic disorder of osteoclast dysfunction leading to anatomical and physiological disorders. We present the anesthesia management for the femur fracture of a 4-year-old girl with malignant infantile type of osteopetrosis. She had a ventriculoperitoneal shunt, impaired motion, visual disturbance, growth failure, facial deformity, heart murmur of moderate tricuspid regurgitation, and left ventricular heart failure, with splenomegaly and severe anemia.
July 2017: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/28921877/analysis-of-infantile-fibrosarcoma-reveals-extensive-t-cell-responses-within-tumors-implications-for-immunotherapy
#18
Hua Zhu, Song Gu, Minzhi Yin, Min Shi, Chao Xin, Jianmin Zhu, Jing Wang, Siqi Huang, Chenjie Xie, Jing Ma, Ci Pan, Jingyan Tang, Min Xu, Xue-Feng Bai
BACKGROUND: Infantile fibrosarcoma (IFS) is a rare pediatric malignancy with relatively good prognosis, but the risk of progression or recurrence after therapy exists. To understand the immune microenvironment of IFS and determine if immunotherapy is a potential treatment, we analyzed T-cell responses in IFS tumors. PROCEDURE: IFS tumors were analyzed by immunohistochemistry and multicolor flow cytometry to characterize immune cell infiltration and function. Tumor infiltrating lymphocytes (TILs) were expanded in vitro and evaluated for recognition of autologous tumor cells...
February 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28845553/survivin-a-novel-marker-and-potential-therapeutic-target-for-human-angiosarcoma
#19
Masayuki Tsuneki, Takao Kinjo, Taisuke Mori, Akihiko Yoshida, Kayo Kuyama, Aoi Ohira, Takuya Miyagi, Kenzo Takahashi, Akira Kawai, Hirokazu Chuman, Naoya Yamazaki, Mikio Masuzawa, Hirofumi Arakawa
Human angiosarcoma is a rare malignant vascular tumor associated with extremely poor clinical outcome and generally arising in skin of the head and neck region. However, little is known about the molecular pathogeneses and useful immunohistochemical markers of angiosarcoma. To investigate the mechanisms of angiosarcoma progression, we collected 85 cases of human angiosarcoma specimens with clinical records and analyzed ISO-HAS-B patient-derived angiosarcoma cells. As control subjects, 54 cases of hemangioma and 34 of pyogenic granuloma were collected...
November 2017: Cancer Science
https://www.readbyqxmd.com/read/28816234/novel-mutations-of-tcirg1-cause-a-malignant-and-mild-phenotype-of-autosomal-recessive-osteopetrosis-aro-in-four-chinese-families
#20
Xiao-Ya Zhang, Jin-Wei He, Wen-Zhen Fu, Chun Wang, Zhen-Lin Zhang
Human autosomal recessive osteopetrosis (ARO), also known as infantile malignant osteopetrosis, is a rare genetic bone disorder that often causes death. Mutations in T-cell immune regulator 1 (TCIRG1) are a frequent cause of human ARO. Six additional genes (TNFSF11, TNFRSF11A, CLCN7, OSTM1, SNX10, PLEKHM1) were also found to be associated with human ARO. In order to expand the mutation spectrum and clinical diversity for a better understanding of the ARO phenotype and to further investigate the clinical characteristics of benign subjects with ARO, we here report five individuals with ARO from four unrelated Chinese families...
November 2017: Acta Pharmacologica Sinica
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