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Infantile malignancies

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https://www.readbyqxmd.com/read/28612835/coexisting-variants-in-ostm1-and-maneal-cause-a-complex-neurodegenerative-disorder-with-nbia-like-brain-abnormalities
#1
Diran Herebian, Bader Alhaddad, Annette Seibt, Thomas Schwarzmayr, Katharina Danhauser, Dirk Klee, Stefani Harmsen, Thomas Meitinger, Tim M Strom, Ansgar Schulz, Ertan Mayatepek, Tobias B Haack, Felix Distelmaier
Coexistence of different hereditary diseases is a known phenomenon in populations with a high consanguinity rate. The resulting clinical phenotypes are extremely challenging for physicians involved in the care of these patients. Here we describe a 6-year-old boy with co-occurrence of a homozygous splice defect in OSTM1, causing infantile malignant osteopetrosis, and a loss-of-function variant in MANEAL, which has not been associated with human disease so far. The child suffered from severe infantile-onset neurodegeneration that could not be stopped by bone marrow transplantation...
June 14, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28604959/-analysis-of-tcirg1-gene-mutation-in-a-chinese-family-affected-with-infantile-malignant-osteopetrosis
#2
Min Wang, Tianping Chen, Ling Jin, Lijun Qu, Jian Wang, Yan Li, Jie Cheng, Zhe Xu, Chengjun Wang, Shan Gao
OBJECTIVE: To detect potential mutation of the TCIRG1 gene in a boy with infantile malignant osteopetrosis. METHODS: Target sequence capture and next-generation sequencing were applied for the proband and his parents to identify the causative mutation, and Sanger sequencing was used to verify the suspected mutation. RESULTS: The proband manifested at 4 months of age with symptoms including anemia, thrombocytopenia, hepatosplenomegaly, and cephalus quadratus...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28546721/a-rare-presentation-of-infantile-virilization-secondary-to-malignant-etiology
#3
V Dasarwar Nagesh, D Ramkrishnan Santosh, N Datla Sravya
Adrenocortical tumor is a rare malignancy (1-2/million) in children with a heterogenous presentation and generally poor prognosis. We report two cases of adrenocortical carcinoma who presented primarily with virilization along with cushingoid features and hypertension. Both children were managed with surgical resection of tumor, steroid replacement, and antihypertensives.
June 2017: Indian Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28524223/-infantile-epileptic-encephalopathies-what-matters-is-genetics
#4
J J Garcia-Penas, M Jimenez-Legido
INTRODUCTION: Epileptic encephalopathies in infancy are defined as conditions where the sustained epileptic activity itself may contribute to the severe neurological and cognitive impairment. These epileptic encephalopathies include Ohtahara syndrome, early myoclonic epileptic encephalopathy, West syndrome, Dravet syndrome, and malignant migrating epilepsy in infancy. These syndromes result from identifiable primary causes, such as structural, neurodegenerative, metabolic, or genetic defects...
May 17, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28521077/clinical-case-series-of-pediatric-hepatic-angiosarcoma
#5
Kalee L Grassia, Caitlin M Peterman, Ionela Iacobas, Judith F Margolin, Ewa Bien, Bhavna Padhye, Rebecka L Meyers, Denise M Adams
Hepatic angiosarcoma is a rare, aggressive, malignant neoplasm with fewer than 50 cases reported in children. Prognosis is poor, with a minority surviving beyond 2 years after diagnosis. We report eight cases of pediatric hepatic angiosarcoma, diagnosed at a mean age of 3 years. Seven were initially diagnosed with an infantile hepatic hemangioendothelioma (IHHE) or hemangioma and the eighth with a "vascular tumor." Two patients, who received liver transplant, survived. We suggest hepatic hemangiomas can rarely transform into angiosarcomas and a subset of IHHEs (Type II) are actually a low-grade form of angiosarcoma rather than a benign lesion...
May 18, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28509377/h3-1-k36m-mutation-in-a-congenital-onset-soft-tissue-neoplasm
#6
Kristin D Kernohan, David Grynspan, Raveena Ramphal, Eric Bareke, You Chang Wang, Elizabeth Nizalik, Jiannis Ragoussis, Nada Jabado, Kym M Boycott, Jacek Majewski, Sarah L Sawyer
We describe a patient who presented with a congenital soft tissue lesion initially diagnosed as infantile fibromatosis at 15 days of age. Unusually, the mass demonstrated malignant progression leading to death at 20 months of age. Biological progression to malignancy is not known to occur in fibromatosis, and fibrosarcoma is not known to progress from a benign lesion. Whole-exome sequencing of the tumor identified a driver mutation in histone H3.1 at lysine (K)36. Our findings support the link between oncohistones and infantile soft tissue tumors and provide additional evidence for the oncogenic effects of p...
May 16, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28481064/-diagnosis-and-treatment-of-the-tumors-of-the-parotid-region-in-pediatrics-cohort
#7
R Oesterreich, J Udaquiola, P Lobos, J Moldes, D Liberto
INTRODUCTION: Parotid tumors are rare in children and usually have multiple differential diagnoses that require different diagnostic and treatment methods. MATERIAL AND METHODS: Retrospective cohort study of all consecutive pediatric patients with parotid tumors that were treated in Pediatric Surgery Service of Hospital Italiano de Buenos Aires. RESULTS: Twenty-two patients with parotid tumors were included and 72% (n=16) were female patients...
October 10, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/28451777/infantile-cranial-fasciitis-case-based-review-and-operative-technique
#8
Oliver E Flouty, Anthony J Piscopo, Marshall T Holland, Kingsley Abode-Iyamah, Leslie Bruch, Arnold H Menezes, Brian J Dlouhy
BACKGROUND: Cranial fasciitis (CF) is an uncommon benign primary lesion of the skull that typically affects the pediatric age group. Due to the rarity of CF, no prospective studies exist. Earliest description of this condition dates to 1980. The limited scientific and clinical literature regarding CF is dominated by case reports. For these reasons, questions pertaining to the true incidence, genetic risk factors, prognosis, and long-term outcome remain unanswered. DISCUSSION: Clinically, CF presents as a firm, painless, growing scalp mass that is typically not considered in the differential diagnosis...
April 27, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28443817/childhood-sustained-hypercalcemia-a-diagnostic-challenge
#9
Nisa Eda Çullas İlarslan, Zeynep Şıklar, Merih Berberoğlu
OBJECTIVE: This study aimed to call attention to hypercalcemia, a rare finding in children, which carries the potential of leading serious complications without proper intervention. METHODS: Diagnosis, treatment and clinical course of children with sustained hypercalcemia between 2006-2016 were reviewed. Group 1 (PTH-dependent) consisted of patients with high/unsupressed PTH level and Group 2 (PTH-independent) included cases with normal/supressed PTH level. RESULTS: Twenty patients (11 male, 9 female) with a median age of 6,25 (0,03-17,88) years were evaluated...
April 26, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28371408/two-cases-of-humoral-hypercalcemia-of-malignancy-complicating-infantile-fibrosarcoma
#10
Ryan Hirschfeld, Jennifer J G Welch, Douglas J Harrison, Robin Kremsdorf, Anjulika Chawla
We report two infants with infantile fibrosarcoma (IFS) complicated by severe hypercalcemia. Assessment demonstrated suppressed parathyroid hormone and 1,25-dihydroxyvitamin D levels with elevated circulating levels of parathyroid hormone related protein, indicating the diagnosis of humoral hypercalcemia of malignancy (HHM). HHM is a paraneoplastic syndrome rarely associated with pediatric malignancies. Hypercalcemia manifested clinically with neurologic symptoms and soft tissue calcium deposition and required aggressive management with intravenous fluids, diuretics, and supplemental electrolytes...
March 29, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28318056/cutaneous-and-systemic-findings-in-mosaic-neurofibromatosis-type-1
#11
Igor Vázquez-Osorio, Anna Duat-Rodríguez, Francisco Javier García-Martínez, Antonio Torrelo, Lucero Noguera-Morel, Angela Hernández-Martín
BACKGROUND/OBJECTIVES: Mosaic neurofibromatosis type 1 (MNF1) is a variant of neurofibromatosis type 1 (NF1) in which clinical manifestations are limited to one or several body segments. The objective was to characterize the cutaneous features and associated systemic findings in a cohort of children with MNF1. METHODS: We performed a retrospective study of 40 children diagnosed with MNF1 at the Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain, from January 1, 1986, to October 31, 2015...
March 20, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28238417/enhanced-expression-of-programmed-cell-death-1-pd-1-protein-in-benign-vascular-anomalies
#12
Clarissa N Amaya, Frank H Wians, Brad A Bryan, Alireza Torabi
Programmed cell death 1 (PD-1) and its ligands have been shown to play a significant role in evasion of malignant tumour cells from the immune system. Last year, the United States Food and Drug Administration (FDA) approved anti-PD-1 inhibitors for treatment of non-small cell lung carcinoma and recently has approved anti-PD-L1 blocker for treatment of metastatic urothelial cell carcinoma. However, the role that the immune system might have on benign tumours including vascular anomalies has received less attention...
April 2017: Pathology
https://www.readbyqxmd.com/read/28183292/case-report-rapid-and-durable-response-to-pdgfr-targeted-therapy-in-a-child-with-refractory-multiple-infantile-myofibromatosis-and-a-heterozygous-germline-mutation-of-the-pdgfrb-gene
#13
Peter Mudry, Ondrej Slaby, Jakub Neradil, Jana Soukalova, Kristyna Melicharkova, Ondrej Rohleder, Marta Jezova, Anna Seehofnerova, Elleni Michu, Renata Veselska, Jaroslav Sterba
BACKGROUND: Infantile myofibromatosis belongs to a family of soft tissue tumors. The majority of these tumors have benign behavior but resistant and malignant courses are known, namely in tumors with visceral involvement. The standard of care is surgical resection. Observations suggest that low dose chemotherapy is beneficial. The treatment of resistant or relapsed patients with multifocal disease remains challenging. Patients that harbor an actionable mutation in the kinase domain are potential subjects for targeted tyrosine kinase inhibitor therapy...
February 10, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28154351/natural-history-of-thyroid-cancer-review
#14
Toru Takano
Thyroid cancers have long been considered to arise in middle age and, after their repeated proliferation, resulting in further damage to the genome, they progress to more aggressive and lethal cancers. However, in 2014, some studies were reported that might lead to a marked change in our understanding of the natural history of thyroid cancer. A high prevalence of papillary carcinoma in the young suggested that the first initiation of thyroid cancer is likely to occur in the infantile period. Such a conclusion was also supported by a very slow growth rate of papillary microcarcinomas (PMCs) in an observation trial...
March 31, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28095295/hematopoietic-stem-cell-transplantation-corrects-osteopetrosis-in-a-child-carrying-a-novel-homozygous-mutation-in-the-fermt3-gene
#15
Eleonora Palagano, Mary A Slatter, Paolo Uva, Ciro Menale, Anna Villa, Mario Abinun, Cristina Sobacchi
Osteopetrosis (OPT) is a rare skeletal disorder with phenotypic and genotypic heterogeneity: a variety of clinical features besides the bony defect may be present, and at least ten different genes are known to be involved in the disease pathogenesis. In the framework of this heterogeneity, we report the clinical description of a neonate, first child of consanguineous parents, who had osteoclast-rich osteopetrosis and bone marrow failure in early life, but no other usual classical features of infantile malignant OPT, such as visual or hearing impairments...
January 14, 2017: Bone
https://www.readbyqxmd.com/read/28064266/infantile-intraosseous-maxillary-hemangioma
#16
Divya Gupta, Ishwar Singh, Kavita Goyal, Parul Sobti
BACKGROUND: Primary osseous hemangiomas of the facial skeleton mimic malignancy. Their location in maxillary sinus, especially in infants is extremely rare. CASE CHARACTERISTICS: 1- month-old full term boy with maxillary swelling. OBSERVATIONS: Biopsy from oral route revealed hemangioma showing vascular channels lined by endothelial cells. Patient improved on oral steroids. MESSAGE: Hemangiomas should be considered as one of the differential diagnosis of unilateral maxillary swelling in infants...
December 15, 2016: Indian Pediatrics
https://www.readbyqxmd.com/read/27889818/somatosensory-reflex-seizures-in-a-child-with-epilepsy-related-to-novel-scn1a-mutation
#17
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...
April 2017: 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
#18
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
#19
REVIEW
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...
January 2017: Clinical Neuropathology
https://www.readbyqxmd.com/read/27659826/supratentorial-tumors-typical-of-the-infantile-age-desmoplastic-infantile-ganglioglioma-dig-and-astrocytoma-dia-a-review
#20
REVIEW
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
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